ClinVar Miner

List of variants reported as pathogenic for Cardiovascular phenotype by Ambry Genetics

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ClinVar version:
Total variants: 1847
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HGVS dbSNP gnomAD frequency
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter) rs137852987 0.00102
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232 0.00075
NM_000237.3(LPL):c.644G>A (p.Gly215Glu) rs118204057 0.00024
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg) rs137852988 0.00022
NM_022437.3(ABCG8):c.1234C>T (p.Arg412Ter) rs137852991 0.00013
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp) rs199473072 0.00009
NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln) rs587782962 0.00008
NM_000218.3(KCNQ1):c.1766G>A (p.Gly589Asp) rs120074190 0.00006
NM_000238.4(KCNH2):c.1655T>C (p.Leu552Ser) rs199472918 0.00006
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374 0.00006
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp) rs144467873 0.00006
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn) rs121908030 0.00006
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846 0.00006
NM_001371904.1(APOA5):c.289C>T (p.Gln97Ter) rs201079485 0.00006
NM_006073.4(TRDN):c.613C>T (p.Gln205Ter) rs397515458 0.00006
NM_000169.3(GLA):c.640-801G>A rs199473684 0.00005
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156 0.00005
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) rs121434420 0.00005
NM_001267550.2(TTN):c.86821+2T>A rs397517735 0.00005
NM_000218.3(KCNQ1):c.613G>A (p.Val205Met) rs151344631 0.00004
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000256.3(MYBPC3):c.3330+2T>G rs387906397 0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln) rs397516347 0.00004
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_000371.4(TTR):c.262A>T (p.Ile88Leu) rs121918085 0.00004
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr) rs376459828 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_001005242.3(PKP2):c.2357+1G>A rs111517471 0.00004
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186 0.00004
NM_001378454.1(ALMS1):c.10480C>T (p.Gln3494Ter) rs772624348 0.00004
NM_001378454.1(ALMS1):c.355C>T (p.Gln119Ter) rs751804613 0.00004
NM_004444.5(EPHB4):c.1054C>T (p.Arg352Ter) rs898898802 0.00004
NM_020778.5(ALPK3):c.3175C>T (p.Arg1059Ter) rs749465164 0.00004
NM_024301.5(FKRP):c.229C>T (p.Gln77Ter) rs1051900223 0.00004
NM_024301.5(FKRP):c.899T>C (p.Val300Ala) rs104894691 0.00004
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) rs59301204 0.00004
NM_000071.3(CBS):c.1058C>T (p.Thr353Met) rs121964972 0.00003
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500 0.00003
NM_000218.3(KCNQ1):c.692G>A (p.Arg231His) rs199472709 0.00003
NM_000238.4(KCNH2):c.2587C>T (p.Arg863Ter) rs773724817 0.00003
NM_000256.3(MYBPC3):c.1224-52G>A rs786204336 0.00003
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln) rs397515907 0.00003
NM_000256.3(MYBPC3):c.1624+4A>T rs397515916 0.00003
NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter) rs397516005 0.00003
NM_000256.3(MYBPC3):c.927-2A>G rs397516082 0.00003
NM_000257.4(MYH7):c.2221G>A (p.Gly741Arg) rs121913632 0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109 0.00003
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter) rs121908029 0.00003
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165 0.00003
NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr) rs761954844 0.00003
NM_001005242.3(PKP2):c.1557-1G>C rs78897684 0.00003
NM_001005242.3(PKP2):c.1819C>T (p.Arg607Ter) rs751288871 0.00003
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn) rs104894503 0.00003
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718 0.00003
NM_001114753.3(ENG):c.1134G>A (p.Ala378=) rs1329127701 0.00003
NM_001267550.2(TTN):c.49648+2del rs727504851 0.00003
NM_001378454.1(ALMS1):c.2326C>T (p.Gln776Ter) rs758195453 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter) rs201217593 0.00003
NM_006073.4(TRDN):c.22+29A>G rs774068079 0.00003
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) rs59885338 0.00003
NM_000071.3(CBS):c.325T>C (p.Cys109Arg) rs778220779 0.00002
NM_000169.3(GLA):c.335G>A (p.Arg112His) rs372966991 0.00002
NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln) rs120074178 0.00002
NM_000237.3(LPL):c.805G>A (p.Glu269Lys) rs761886494 0.00002
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723 0.00002
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs) rs397515963 0.00002
NM_000256.3(MYBPC3):c.26-2A>G rs376395543 0.00002
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter) rs387907267 0.00002
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958 0.00002
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000335.5(SCN5A):c.845G>A (p.Arg282His) rs199473083 0.00002
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn) rs749038326 0.00002
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter) rs193922672 0.00002
NM_001005242.3(PKP2):c.663C>A (p.Tyr221Ter) rs767987619 0.00002
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814 0.00002
NM_001267550.2(TTN):c.107377+1G>A rs112188483 0.00002
NM_001365276.2(TNXB):c.2461C>T (p.Arg821Ter) rs749890642 0.00002
NM_001365276.2(TNXB):c.6293dup (p.Glu2100fs) rs764867655 0.00002
NM_001378454.1(ALMS1):c.11667del (p.Gly3890fs) rs1553421496 0.00002
NM_002667.5(PLN):c.116T>G (p.Leu39Ter) rs111033560 0.00002
NM_024422.6(DSC2):c.943-1G>A rs796756333 0.00002
NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln) rs771028960 0.00002
NM_000020.3(ACVRL1):c.1121G>A (p.Arg374Gln) rs1060503248 0.00001
NM_000020.3(ACVRL1):c.1135G>A (p.Glu379Lys) rs1131691686 0.00001
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284 0.00001
NM_000020.3(ACVRL1):c.1436G>A (p.Arg479Gln) rs1085307426 0.00001
NM_000020.3(ACVRL1):c.1450C>T (p.Arg484Trp) rs121909288 0.00001
NM_000020.3(ACVRL1):c.199C>T (p.Arg67Trp) rs1085307405 0.00001
NM_000169.3(GLA):c.644A>G (p.Asn215Ser) rs28935197 0.00001
NM_000218.3(KCNQ1):c.1031C>T (p.Ala344Val) rs199472763 0.00001
NM_000218.3(KCNQ1):c.1032+1G>A rs397508070 0.00001
NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=) rs1800171 0.00001
NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter) rs397508097 0.00001
NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp) rs199472795 0.00001
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815 0.00001
NM_000218.3(KCNQ1):c.332A>G (p.Tyr111Cys) rs199472678 0.00001
NM_000218.3(KCNQ1):c.477+1G>A rs762814879 0.00001
NM_000218.3(KCNQ1):c.477+5G>A rs397508111 0.00001
NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg) rs179489 0.00001
NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys) rs199472696 0.00001
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser) rs199473394 0.00001
NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn) rs199472702 0.00001
NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys) rs199473457 0.00001
NM_000218.3(KCNQ1):c.727C>T (p.Arg243Cys) rs199472713 0.00001
NM_000218.3(KCNQ1):c.806G>A (p.Gly269Asp) rs120074194 0.00001
NM_000218.3(KCNQ1):c.815G>A (p.Gly272Asp) rs199472726 0.00001
NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu) rs199472730 0.00001
NM_000218.3(KCNQ1):c.914G>A (p.Trp305Ter) rs120074186 0.00001
NM_000237.3(LPL):c.590G>A (p.Arg197His) rs372668179 0.00001
NM_000237.3(LPL):c.701C>T (p.Pro234Leu) rs118204060 0.00001
NM_000237.3(LPL):c.808C>T (p.Arg270Cys) rs118204077 0.00001
NM_000237.3(LPL):c.809G>A (p.Arg270His) rs118204062 0.00001
NM_000237.3(LPL):c.829G>A (p.Asp277Asn) rs118204068 0.00001
NM_000238.4(KCNH2):c.1979C>T (p.Ser660Leu) rs199472979 0.00001
NM_000238.4(KCNH2):c.2254C>T (p.Arg752Trp) rs199472990 0.00001
NM_000256.3(MYBPC3):c.1188G>A (p.Trp396Ter) rs397515890 0.00001
NM_000256.3(MYBPC3):c.1227-13G>A rs397515893 0.00001
NM_000256.3(MYBPC3):c.2258dup (p.Lys754fs) rs774521272 0.00001
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) rs397515990 0.00001
NM_000256.3(MYBPC3):c.3190+1G>A rs111683277 0.00001
NM_000256.3(MYBPC3):c.3190+2T>G rs113358486 0.00001
NM_000256.3(MYBPC3):c.3226_3227insT (p.Asp1076fs) rs397516008 0.00001
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter) rs121909377 0.00001
NM_000256.3(MYBPC3):c.3408C>A (p.Tyr1136Ter) rs193922383 0.00001
NM_000256.3(MYBPC3):c.3490+1G>T rs397516020 0.00001
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter) rs368765949 0.00001
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037 0.00001
NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs) rs727503166 0.00001
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter) rs397516042 0.00001
NM_000256.3(MYBPC3):c.436dup (p.Thr146fs) rs397516049 0.00001
NM_000256.3(MYBPC3):c.821+1G>A rs397516073 0.00001
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) rs121913625 0.00001
NM_000257.4(MYH7):c.1358G>A (p.Arg453His) rs397516101 0.00001
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp) rs267606911 0.00001
NM_000257.4(MYH7):c.1816G>A (p.Val606Met) rs121913627 0.00001
NM_000257.4(MYH7):c.1954A>G (p.Arg652Gly) rs727504239 0.00001
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp) rs121913637 0.00001
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161 0.00001
NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly) rs267606908 0.00001
NM_000257.4(MYH7):c.2722C>G (p.Leu908Val) rs121913631 0.00001
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) rs727503246 0.00001
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201 0.00001
NM_000257.4(MYH7):c.4135G>A (p.Ala1379Thr) rs397516202 0.00001
NM_000257.4(MYH7):c.5655G>A (p.Ala1885=) rs753392652 0.00001
NM_000257.4(MYH7):c.767G>A (p.Gly256Glu) rs121913633 0.00001
NM_000335.5(SCN5A):c.1100G>A (p.Arg367His) rs28937318 0.00001
NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn) rs137854618 0.00001
NM_000335.5(SCN5A):c.4882C>T (p.Arg1628Ter) rs199473284 0.00001
NM_000335.5(SCN5A):c.4891C>T (p.Arg1631Cys) rs878855292 0.00001
NM_000335.5(SCN5A):c.4909C>T (p.Arg1637Ter) rs761505217 0.00001
NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His) rs28937316 0.00001
NM_000335.5(SCN5A):c.5224G>A (p.Gly1742Arg) rs199473305 0.00001
NM_000335.5(SCN5A):c.5299A>G (p.Ile1767Val) rs199473311 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NM_000335.5(SCN5A):c.656G>A (p.Arg219His) rs878855296 0.00001
NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln) rs397516357 0.00001
NM_000371.4(TTR):c.118G>A (p.Val40Ile) rs121918093 0.00001
NM_000371.4(TTR):c.130C>T (p.Pro44Ser) rs11541790 0.00001
NM_000371.4(TTR):c.238A>G (p.Thr80Ala) rs121918070 0.00001
NM_000371.4(TTR):c.349G>T (p.Ala117Ser) rs267607161 0.00001
NM_000384.3(APOB):c.1315C>T (p.Arg439Ter) rs142066904 0.00001
NM_000432.4(MYL2):c.173G>A (p.Arg58Gln) rs104894369 0.00001
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566 0.00001
NM_000527.5(LDLR):c.1061-1G>C rs879254774 0.00001
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) rs137943601 0.00001
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys) rs879254867 0.00001
NM_000527.5(LDLR):c.1359-1G>A rs139617694 0.00001
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser) rs730882106 0.00001
NM_000527.5(LDLR):c.1730G>C (p.Trp577Ser) rs138947766 0.00001
NM_000527.5(LDLR):c.1846-1G>A rs879255051 0.00001
NM_000527.5(LDLR):c.2029T>C (p.Cys677Arg) rs775092314 0.00001
NM_000527.5(LDLR):c.2061dup (p.Asn688fs) rs137853965 0.00001
NM_000527.5(LDLR):c.2113G>C (p.Ala705Pro) rs193922570 0.00001
NM_000527.5(LDLR):c.2140G>T (p.Glu714Ter) rs869320652 0.00001
NM_000527.5(LDLR):c.2167G>T (p.Glu723Ter) rs1057516127 0.00001
NM_000527.5(LDLR):c.2230C>T (p.Arg744Ter) rs200793488 0.00001
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025 0.00001
NM_000527.5(LDLR):c.299A>T (p.Asp100Val) rs879254460 0.00001
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724 0.00001
NM_000527.5(LDLR):c.313+2T>C rs793888517 0.00001
NM_000527.5(LDLR):c.314-2A>C rs879254470 0.00001
NM_000527.5(LDLR):c.325T>C (p.Cys109Arg) rs140807148 0.00001
NM_000527.5(LDLR):c.429C>A (p.Cys143Ter) rs199774121 0.00001
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn) rs121908033 0.00001
NM_000527.5(LDLR):c.581del (p.Ser194fs) rs2077276693 0.00001
NM_000527.5(LDLR):c.631C>T (p.His211Tyr) rs771917370 0.00001
NM_000527.5(LDLR):c.820del (p.Thr274fs) rs751122998 0.00001
NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His) rs1057517711 0.00001
NM_001005242.3(PKP2):c.1132C>T (p.Gln378Ter) rs397516986 0.00001
NM_001005242.3(PKP2):c.1171-2A>G rs794729133 0.00001
NM_001005242.3(PKP2):c.1379-2A>T rs1453983744 0.00001
NM_001005242.3(PKP2):c.533dup (p.His179fs) rs769220833 0.00001
NM_001005242.3(PKP2):c.837_838del (p.Val280fs) rs772220644 0.00001
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) rs199476316 0.00001
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr) rs199476321 0.00001
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp) rs190140598 0.00001
NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter) rs119463990 0.00001
NM_001114753.3(ENG):c.1306C>T (p.Gln436Ter) rs1554809450 0.00001
NM_001114753.3(ENG):c.1309C>T (p.Arg437Trp) rs1434169817 0.00001
NM_001114753.3(ENG):c.524-2A>G rs1060501414 0.00001
NM_001134363.3(RBM20):c.1906C>T (p.Arg636Cys) rs267607002 0.00001
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) rs267607004 0.00001
NM_001148.6(ANK2):c.11761C>T (p.Gln3921Ter) rs768327292 0.00001
NM_001232.4(CASQ2):c.939+1G>T rs905985075 0.00001
NM_001267550.2(TTN):c.44816-1G>A rs749705939 0.00001
NM_001267550.2(TTN):c.44899C>T (p.Arg14967Ter) rs727505350 0.00001
NM_001267550.2(TTN):c.47494C>T (p.Arg15832Ter) rs751746401 0.00001
NM_001267550.2(TTN):c.48283C>T (p.Arg16095Ter) rs374140736 0.00001
NM_001267550.2(TTN):c.53743C>T (p.Arg17915Ter) rs753333359 0.00001
NM_001267550.2(TTN):c.73846C>T (p.Arg24616Ter) rs794729284 0.00001
NM_001267550.2(TTN):c.80716C>T (p.Arg26906Ter) rs727505284 0.00001
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter) rs770038577 0.00001
NM_001267550.2(TTN):c.87040C>T (p.Arg29014Ter) rs776065839 0.00001
NM_001267550.2(TTN):c.94855C>T (p.Arg31619Ter) rs869312121 0.00001
NM_001267550.2(TTN):c.97050dup (p.Glu32351fs) rs794729365 0.00001
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp) rs397516456 0.00001
NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln) rs121964856 0.00001
NM_001365276.2(TNXB):c.7826-1G>C rs200357005 0.00001
NM_001378454.1(ALMS1):c.11446C>T (p.Gln3816Ter) rs940576720 0.00001
NM_001378454.1(ALMS1):c.11648_11649insGTTA (p.Asn3884fs) rs760264695 0.00001
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs) rs777476179 0.00001
NM_001378454.1(ALMS1):c.2819T>A (p.Leu940Ter) rs539612316 0.00001
NM_001378454.1(ALMS1):c.283C>T (p.Gln95Ter) rs750326619 0.00001
NM_001378454.1(ALMS1):c.4888C>T (p.Gln1630Ter) rs974309886 0.00001
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter) rs772136379 0.00001
NM_001378454.1(ALMS1):c.5380C>T (p.Gln1794Ter) rs759024519 0.00001
NM_001378454.1(ALMS1):c.5452C>T (p.Arg1818Ter) rs749339938 0.00001
NM_001378454.1(ALMS1):c.619A>T (p.Arg207Ter) rs771994237 0.00001
NM_001378454.1(ALMS1):c.7399G>T (p.Glu2467Ter) rs1198051503 0.00001
NM_001458.5(FLNC):c.3791-1G>C rs781135153 0.00001
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) rs121913008 0.00001
NM_001943.5(DSG2):c.355C>T (p.Arg119Ter) rs753052874 0.00001
NM_001943.5(DSG2):c.523+2T>C rs397516709 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) rs397507529 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_003673.4(TCAP):c.334C>T (p.Gln112Ter) rs794729175 0.00001
NM_003673.4(TCAP):c.66G>A (p.Trp22Ter) rs141019458 0.00001
NM_004006.3(DMD):c.5899C>T (p.Arg1967Ter) rs128626249 0.00001
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter) rs387906875 0.00001
NM_004415.4(DSP):c.268C>T (p.Gln90Ter) rs886039343 0.00001
NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter) rs767643821 0.00001
NM_004415.4(DSP):c.3865C>T (p.Gln1289Ter) rs778178956 0.00001
NM_004415.4(DSP):c.4305_4309del (p.Thr1436fs) rs1554108287 0.00001
NM_004415.4(DSP):c.4518del (p.Arg1506fs) rs1289037294 0.00001
NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter) rs397516940 0.00001
NM_004415.4(DSP):c.939+1G>A rs727504443 0.00001
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) rs193922680 0.00001
NM_006073.4(TRDN):c.541G>T (p.Glu181Ter) rs1198103383 0.00001
NM_014908.4(DOLK):c.374del (p.Ser125fs) rs1156844272 0.00001
NM_015627.3(LDLRAP1):c.406C>T (p.Gln136Ter) rs121908325 0.00001
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln) rs121908987 0.00001
NM_016938.5(EFEMP2):c.499G>T (p.Glu167Ter) rs763944898 0.00001
NM_020778.5(ALPK3):c.3340C>T (p.Arg1114Ter) rs751041696 0.00001
NM_020778.5(ALPK3):c.4234C>T (p.Arg1412Ter) rs1431206462 0.00001
NM_020778.5(ALPK3):c.835G>T (p.Glu279Ter) rs370072439 0.00001
NM_024301.5(FKRP):c.1269_1270insT (p.Asn424Ter) rs772950604 0.00001
NM_030777.4(SLC2A10):c.685C>T (p.Arg229Ter) rs756457861 0.00001
NM_130468.4(CHST14):c.878A>G (p.Tyr293Cys) rs121908258 0.00001
NM_152594.3(SPRED1):c.46C>T (p.Arg16Ter) rs1057517941 0.00001
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243 0.00001
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys) rs397517889 0.00001
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578 0.00001
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) rs57920071 0.00001
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937 0.00001
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp) rs59026483 0.00001
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) rs794728591 0.00001
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) rs60682848 0.00001
NM_170707.4(LMNA):c.768G>A (p.Val256=) rs794728593 0.00001
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490 0.00001
NM_000020.3(ACVRL1):c.100dup (p.Cys34fs) rs1555152440
NM_000020.3(ACVRL1):c.1010del (p.Leu337fs) rs2139074041
NM_000020.3(ACVRL1):c.101G>A (p.Cys34Tyr)
NM_000020.3(ACVRL1):c.1027C>T (p.Gln343Ter) rs1064796530
NM_000020.3(ACVRL1):c.102C>A (p.Cys34Ter) rs1226848374
NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr) rs28936688
NM_000020.3(ACVRL1):c.1031G>T (p.Cys344Phe) rs28936688
NM_000020.3(ACVRL1):c.1036_1040del (p.Ile346fs) rs1565594524
NM_000020.3(ACVRL1):c.1048+1G>A rs2139074368
NM_000020.3(ACVRL1):c.1048+1G>T
NM_000020.3(ACVRL1):c.1048G>C (p.Gly350Arg) rs1565594547
NM_000020.3(ACVRL1):c.1083C>A (p.Tyr361Ter)
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp) rs28936401
NM_000020.3(ACVRL1):c.1122del (p.Tyr375fs) rs863223418
NM_000020.3(ACVRL1):c.1125C>A (p.Tyr375Ter)
NM_000020.3(ACVRL1):c.1126A>G (p.Met376Val) rs1555153277
NM_000020.3(ACVRL1):c.1127T>G (p.Met376Arg) rs28936399
NM_000020.3(ACVRL1):c.1132C>T (p.Pro378Ser) rs959973779
NM_000020.3(ACVRL1):c.1153_1157dup (p.Thr387fs) rs1940834530
NM_000020.3(ACVRL1):c.115_116del (p.Pro39fs) rs2139064475
NM_000020.3(ACVRL1):c.1189G>A (p.Asp397Asn) rs1940836783
NM_000020.3(ACVRL1):c.1196G>A (p.Trp399Ter) rs121909289
NM_000020.3(ACVRL1):c.1218G>T (p.Trp406Cys) rs2139077046
NM_000020.3(ACVRL1):c.1219G>A (p.Glu407Lys) rs1057521203
NM_000020.3(ACVRL1):c.1221G>T (p.Glu407Asp) rs1565595129
NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp) rs121909287
NM_000020.3(ACVRL1):c.1246+1G>A rs1565595176
NM_000020.3(ACVRL1):c.1246+2T>C rs1555153382
NM_000020.3(ACVRL1):c.1250_1269del (p.Ile417fs) rs1555153796
NM_000020.3(ACVRL1):c.1271C>G (p.Pro424Arg) rs1940906429
NM_000020.3(ACVRL1):c.1271C>T (p.Pro424Leu)
NM_000020.3(ACVRL1):c.128_132del (p.Gly43fs)
NM_000020.3(ACVRL1):c.129dup (p.Pro44fs) rs1940731395
NM_000020.3(ACVRL1):c.130_143del (p.Pro44fs) rs2139064592
NM_000020.3(ACVRL1):c.130_146delinsTGCACAGTAGTG (p.Pro44fs)
NM_000020.3(ACVRL1):c.1329T>A (p.Cys443Ter)
NM_000020.3(ACVRL1):c.1331_1332dup (p.Asp445fs) rs1565596508
NM_000020.3(ACVRL1):c.133_148del (p.Thr45fs)
NM_000020.3(ACVRL1):c.1347del (p.Thr450fs) rs1940908396
NM_000020.3(ACVRL1):c.1365_1366delinsC (p.Ala456fs)
NM_000020.3(ACVRL1):c.1377+1G>A rs863223406
NM_000020.3(ACVRL1):c.1378-1G>A rs1060503237
NM_000020.3(ACVRL1):c.1385C>G (p.Ser462Ter) rs1085307422
NM_000020.3(ACVRL1):c.139_140insCG (p.Arg47fs) rs1555152455
NM_000020.3(ACVRL1):c.139dup (p.Arg47fs) rs1940731944
NM_000020.3(ACVRL1):c.1413C>A (p.Cys471Ter) rs1301762186
NM_000020.3(ACVRL1):c.1415G>A (p.Trp472Ter) rs1555154144
NM_000020.3(ACVRL1):c.1416G>A (p.Trp472Ter)
NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter) rs1057517944
NM_000020.3(ACVRL1):c.1451G>A (p.Arg484Gln) rs863223408
NM_000020.3(ACVRL1):c.145del (p.Ala49fs) rs863223415
NM_000020.3(ACVRL1):c.145dup (p.Ala49fs) rs863223415
NM_000020.3(ACVRL1):c.1468C>T (p.Gln490Ter) rs1085307429
NM_000020.3(ACVRL1):c.150G>T (p.Trp50Cys) rs121909285
NM_000020.3(ACVRL1):c.152G>A (p.Cys51Tyr) rs863223409
NM_000020.3(ACVRL1):c.177_180dup (p.Arg61fs)
NM_000020.3(ACVRL1):c.183del (p.Arg61fs) rs1060503246
NM_000020.3(ACVRL1):c.18dup (p.Arg7fs)
NM_000020.3(ACVRL1):c.193G>T (p.Glu65Ter) rs1427299751
NM_000020.3(ACVRL1):c.193del (p.Glu65fs) rs2139065161
NM_000020.3(ACVRL1):c.200G>A (p.Arg67Gln) rs863223414
NM_000020.3(ACVRL1):c.205T>C (p.Cys69Arg) rs2139065261
NM_000020.3(ACVRL1):c.207C>A (p.Cys69Ter) rs56080682
NM_000020.3(ACVRL1):c.210_213delinsAAA (p.Leu72fs)
NM_000020.3(ACVRL1):c.239_240insT (p.Thr82fs)
NM_000020.3(ACVRL1):c.269G>A (p.Cys90Tyr) rs863223410
NM_000020.3(ACVRL1):c.269G>T (p.Cys90Phe) rs863223410
NM_000020.3(ACVRL1):c.270C>A (p.Cys90Ter) rs556168617
NM_000020.3(ACVRL1):c.270C>G (p.Cys90Trp)
NM_000020.3(ACVRL1):c.310G>T (p.Glu104Ter)
NM_000020.3(ACVRL1):c.334C>T (p.Gln112Ter) rs1592222308
NM_000020.3(ACVRL1):c.353_360dup (p.Leu121fs)
NM_000020.3(ACVRL1):c.361del (p.Ala120_Leu121insTer)
NM_000020.3(ACVRL1):c.375del (p.Val126fs) rs1940751760
NM_000020.3(ACVRL1):c.400del (p.Ala134fs)
NM_000020.3(ACVRL1):c.406_409del (p.Gly136fs) rs863223416
NM_000020.3(ACVRL1):c.412_413del (p.Leu138fs) rs2139067412
NM_000020.3(ACVRL1):c.423G>A (p.Trp141Ter)
NM_000020.3(ACVRL1):c.430C>T (p.Arg144Ter) rs758683062
NM_000020.3(ACVRL1):c.433del (p.Arg145fs)
NM_000020.3(ACVRL1):c.474del (p.Glu159fs)
NM_000020.3(ACVRL1):c.501del (p.Glu168fs)
NM_000020.3(ACVRL1):c.525+1G>A rs1555152710
NM_000020.3(ACVRL1):c.525+2T>C rs2139067969
NM_000020.3(ACVRL1):c.540_541insA (p.Asp181fs) rs1555152774
NM_000020.3(ACVRL1):c.546C>A (p.Cys182Ter) rs2139068677
NM_000020.3(ACVRL1):c.601C>T (p.Gln201Ter) rs1318446539
NM_000020.3(ACVRL1):c.625+1G>T rs1940767034
NM_000020.3(ACVRL1):c.626-3C>G rs1555152899
NM_000020.3(ACVRL1):c.639T>A (p.Tyr213Ter)
NM_000020.3(ACVRL1):c.643G>T (p.Glu215Ter)
NM_000020.3(ACVRL1):c.651G>A (p.Trp217Ter) rs1592223399
NM_000020.3(ACVRL1):c.65del (p.Asp22fs)
NM_000020.3(ACVRL1):c.663G>A (p.Trp221Ter) rs2139070482
NM_000020.3(ACVRL1):c.693CTC[1] (p.Ser233del) rs387906391
NM_000020.3(ACVRL1):c.703del (p.Asp235fs)
NM_000020.3(ACVRL1):c.716G>A (p.Trp239Ter)
NM_000020.3(ACVRL1):c.717G>A (p.Trp239Ter)
NM_000020.3(ACVRL1):c.71_93del (p.Val24fs)
NM_000020.3(ACVRL1):c.726del (p.Thr243fs)
NM_000020.3(ACVRL1):c.73A>T (p.Lys25Ter)
NM_000020.3(ACVRL1):c.74_77delinsGCTGCTGAGCTCAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGG (p.Lys25_Pro26delinsSerCysTer)
NM_000020.3(ACVRL1):c.766del (p.Ile256fs)
NM_000020.3(ACVRL1):c.772+1G>C rs1940785759
NM_000020.3(ACVRL1):c.807_810del (p.Ser270fs) rs2139072772
NM_000020.3(ACVRL1):c.818T>C (p.Leu273Pro) rs1085307409
NM_000020.3(ACVRL1):c.822G>A (p.Trp274Ter) rs757645341
NM_000020.3(ACVRL1):c.858_859insA (p.Asp287fs)
NM_000020.3(ACVRL1):c.866T>C (p.Leu289Pro)
NM_000020.3(ACVRL1):c.871A>T (p.Arg291Ter) rs1057256890
NM_000020.3(ACVRL1):c.872_873del (p.Arg291fs) rs1592224087
NM_000020.3(ACVRL1):c.874C>T (p.Gln292Ter) rs1940805354
NM_000020.3(ACVRL1):c.889del (p.His297fs) rs1060503245
NM_000020.3(ACVRL1):c.900del (p.Arg301fs)
NM_000020.3(ACVRL1):c.913T>C (p.Ser305Pro) rs1565594238
NM_000020.3(ACVRL1):c.924C>A (p.Cys308Ter) rs1555153131
NM_000020.3(ACVRL1):c.926G>A (p.Gly309Asp)
NM_000020.3(ACVRL1):c.940C>T (p.His314Tyr) rs1565594311
NM_000020.3(ACVRL1):c.971_972insGCGACAAG (p.Ala325fs)
NM_000020.3(ACVRL1):c.982C>T (p.His328Tyr) rs1592224291
NM_000020.3(ACVRL1):c.986G>A (p.Arg329His) rs863223412
NM_000020.3(ACVRL1):c.988_994dup (p.Lys332fs)
NM_000020.3(ACVRL1):c.998G>T (p.Ser333Ile) rs863223413
NM_000041.4(APOE):c.497TCC[1] (p.Leu167del) rs515726148
NM_000088.4(COL1A1):c.1128del (p.Gly377fs) rs72645370
NM_000088.4(COL1A1):c.288del (p.Asp97fs) rs2144593759
NM_000089.4(COL1A2):c.3355G>A (p.Ala1119Thr)
NM_000090.4(COL3A1):c.2642del (p.Pro881fs) rs886038920
NM_000090.4(COL3A1):c.3500_3501delinsAA (p.Gly1167Glu) rs886038925
NM_000116.5(TAFAZZIN):c.145del (p.Val49fs) rs1557191074
NM_000116.5(TAFAZZIN):c.489dup (p.Phe164fs)
NM_000117.3(EMD):c.130C>T (p.Gln44Ter) rs132630262
NM_000117.3(EMD):c.153dup (p.Ser52fs) rs876661345
NM_000117.3(EMD):c.217dup (p.Met73fs)
NM_000118.3(ENG):c.1687delG rs1564452075
NM_000138.4(FBN1):c.2127_2130delACTCins11 (p.?)
NM_000138.4(FBN1):c.5067_5073delTATGAGA rs886038823
NM_000138.5(FBN1):c.1211dup (p.Pro405fs) rs112289537
NM_000138.5(FBN1):c.1571del (p.Thr524fs) rs886038817
NM_000138.5(FBN1):c.1807C>T (p.Gln603Ter) rs886038963
NM_000138.5(FBN1):c.2227del (p.Arg743fs) rs886038769
NM_000138.5(FBN1):c.2524A>T (p.Lys842Ter) rs886038941
NM_000138.5(FBN1):c.2725del (p.Glu909fs) rs886038804
NM_000138.5(FBN1):c.2906del (p.Leu969fs) rs886039154
NM_000138.5(FBN1):c.3269del (p.Pro1090fs) rs35656954
NM_000138.5(FBN1):c.3668G>A (p.Cys1223Tyr) rs137854469
NM_000138.5(FBN1):c.412A>T (p.Lys138Ter) rs886038937
NM_000138.5(FBN1):c.4412_4415del (p.Glu1471fs) rs886038846
NM_000138.5(FBN1):c.4721del (p.Cys1574fs) rs1555397148
NM_000138.5(FBN1):c.526C>T (p.Gln176Ter) rs886038766
NM_000138.5(FBN1):c.6169C>T (p.Arg2057Ter) rs763091520
NM_000138.5(FBN1):c.7C>T (p.Arg3Ter) rs886038797
NM_000138.5(FBN1):c.8149G>T (p.Glu2717Ter) rs187553035
NM_000138.5(FBN1):c.8488C>T (p.Gln2830Ter) rs886038795
NM_000169.3(GLA):c.1210dup (p.Arg404fs)
NM_000169.3(GLA):c.18del (p.Glu7fs) rs2147487830
NM_000169.3(GLA):c.202C>T (p.Leu68Phe) rs1928411447
NM_000169.3(GLA):c.295C>T (p.Gln99Ter) rs868937910
NM_000169.3(GLA):c.295dup (p.Gln99fs) rs886039136
NM_000169.3(GLA):c.334C>T (p.Arg112Cys) rs104894834
NM_000169.3(GLA):c.337T>C (p.Phe113Leu) rs869312142
NM_000169.3(GLA):c.402T>A (p.Tyr134Ter)
NM_000169.3(GLA):c.469C>T (p.Gln157Ter) rs797044702
NM_000169.3(GLA):c.547G>A (p.Gly183Ser) rs869312324
NM_000169.3(GLA):c.677G>A (p.Trp226Ter) rs398123219
NM_000169.3(GLA):c.80del (p.Pro27fs) rs730880454
NM_000169.3(GLA):c.901C>G (p.Arg301Gly) rs398123224
NM_000169.3(GLA):c.902G>A (p.Arg301Gln) rs104894828
NM_000214.3(JAG1):c.1057G>T (p.Glu353Ter) rs1600185499
NM_000214.3(JAG1):c.1369C>T (p.Gln457Ter) rs863223652
NM_000214.3(JAG1):c.1424dup (p.Cys475fs)
NM_000214.3(JAG1):c.1563_1564del (p.Cys522fs) rs2067324506
NM_000214.3(JAG1):c.165C>A (p.Cys55Ter)
NM_000214.3(JAG1):c.1984del (p.Ala662fs)
NM_000214.3(JAG1):c.3172C>T (p.Gln1058Ter)
NM_000218.3(KCNQ1):c.1014CTT[1] (p.Phe340del) rs397508068
NM_000218.3(KCNQ1):c.1016T>C (p.Phe339Ser) rs199472759
NM_000218.3(KCNQ1):c.1022C>A (p.Ala341Glu) rs12720459
NM_000218.3(KCNQ1):c.1022C>T (p.Ala341Val) rs12720459
NM_000218.3(KCNQ1):c.1033-1_1117dup
NM_000218.3(KCNQ1):c.1066C>T (p.Gln356Ter) rs397508072
NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter) rs397508075
NM_000218.3(KCNQ1):c.107dup (p.Ser37fs)
NM_000218.3(KCNQ1):c.1081C>T (p.Gln361Ter) rs794728571
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_000218.3(KCNQ1):c.1099C>T (p.Gln367Ter)
NM_000218.3(KCNQ1):c.1121T>A (p.Leu374His) rs199472767
NM_000218.3(KCNQ1):c.1124_1127del (p.Ile375fs) rs397508077
NM_000218.3(KCNQ1):c.1128+2T>A rs2133754863
NM_000218.3(KCNQ1):c.1201dup (p.Arg401fs) rs397508082
NM_000218.3(KCNQ1):c.1250dup (p.Val418fs) rs2133758591
NM_000218.3(KCNQ1):c.1265del (p.Lys422fs) rs397508083
NM_000218.3(KCNQ1):c.1265dup (p.Phe423fs) rs397508083
NM_000218.3(KCNQ1):c.1319_1337dup (p.Glu449fs)
NM_000218.3(KCNQ1):c.1343del (p.Pro448fs) rs397508087
NM_000218.3(KCNQ1):c.1356del (p.Leu453fs) rs1848632145
NM_000218.3(KCNQ1):c.1383T>A (p.Tyr461Ter) rs794728527
NM_000218.3(KCNQ1):c.1394-1G>T rs775537394
NM_000218.3(KCNQ1):c.1486_1487del (p.Leu496fs) rs397508090
NM_000218.3(KCNQ1):c.1513C>T (p.Gln505Ter) rs397508091
NM_000218.3(KCNQ1):c.1514+1G>A rs397508093
NM_000218.3(KCNQ1):c.153C>G (p.Tyr51Ter) rs397508096
NM_000218.3(KCNQ1):c.1637C>T (p.Ser546Leu) rs199473480
NM_000218.3(KCNQ1):c.1660del (p.Val554fs) rs794728561
NM_000218.3(KCNQ1):c.1663C>T (p.Arg555Cys) rs120074185
NM_000218.3(KCNQ1):c.1686del rs794728562
NM_000218.3(KCNQ1):c.1700T>C (p.Ile567Thr) rs199472805
NM_000218.3(KCNQ1):c.1702G>A (p.Gly568Arg) rs199472807
NM_000218.3(KCNQ1):c.1760C>T (p.Thr587Met) rs120074189
NM_000218.3(KCNQ1):c.1772G>A (p.Arg591His) rs199472814
NM_000218.3(KCNQ1):c.1780C>T (p.Arg594Ter) rs794728537
NM_000218.3(KCNQ1):c.1792_1793del (p.Lys598fs) rs2133992401
NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs) rs1435990592
NM_000218.3(KCNQ1):c.221dup (p.Val75fs)
NM_000218.3(KCNQ1):c.364dup (p.Cys122fs) rs397508109
NM_000218.3(KCNQ1):c.382_383dup (p.Val129fs) rs1554958132
NM_000218.3(KCNQ1):c.421G>A (p.Val141Met) rs199472687
NM_000218.3(KCNQ1):c.488del (p.Leu163fs) rs397508112
NM_000218.3(KCNQ1):c.502G>C (p.Gly168Arg) rs179489
NM_000218.3(KCNQ1):c.504del (p.Thr169fs) rs397508114
NM_000218.3(KCNQ1):c.510del (p.Glu170fs) rs1554892895
NM_000218.3(KCNQ1):c.513C>A (p.Tyr171Ter) rs139042529
NM_000218.3(KCNQ1):c.524_534del (p.Leu175fs) rs763462603
NM_000218.3(KCNQ1):c.564G>A (p.Trp188Ter) rs530612385
NM_000218.3(KCNQ1):c.567dup (p.Arg190fs) rs397508117
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) rs397508118
NM_000218.3(KCNQ1):c.585del (p.Lys196fs) rs397508120
NM_000218.3(KCNQ1):c.605-2A>G rs2133728692
NM_000218.3(KCNQ1):c.713_719del (p.Met238fs)
NM_000218.3(KCNQ1):c.724G>A (p.Asp242Asn) rs199472712
NM_000218.3(KCNQ1):c.730C>T (p.Gln244Ter) rs1554893091
NM_000218.3(KCNQ1):c.760G>A (p.Val254Met) rs120074179
NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys) rs199472719
NM_000218.3(KCNQ1):c.796del (p.Leu266fs) rs397508125
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro) rs199473460
NM_000218.3(KCNQ1):c.805G>A (p.Gly269Ser) rs120074193
NM_000218.3(KCNQ1):c.817C>T (p.Leu273Phe) rs120074180
NM_000218.3(KCNQ1):c.862_880del (p.Val288fs) rs397508129
NM_000218.3(KCNQ1):c.911G>A (p.Trp304Ter)
NM_000218.3(KCNQ1):c.914G>C (p.Trp305Ser) rs120074186
NM_000218.3(KCNQ1):c.919del (p.Val307fs) rs2133733071
NM_000218.3(KCNQ1):c.931del (p.Thr311fs)
NM_000218.3(KCNQ1):c.940G>A (p.Gly314Ser) rs120074184
NM_000218.3(KCNQ1):c.940G>C (p.Gly314Arg) rs120074184
NM_000218.3(KCNQ1):c.941G>A (p.Gly314Asp) rs199472748
NM_000218.3(KCNQ1):c.944A>C (p.Tyr315Ser) rs74462309
NM_000218.3(KCNQ1):c.944A>G (p.Tyr315Cys) rs74462309
NM_000218.3(KCNQ1):c.965C>T (p.Thr322Met) rs199472755
NM_000218.3(KCNQ1):c.973G>A (p.Gly325Arg) rs199472756
NM_000218.3(KCNQ1):c.998_999del (p.Ser333fs) rs397508134
NM_000219.6(KCNE1):c.12dup (p.Asn5Ter) rs1131691762
NM_000229.2(LCAT):c.101dup (p.His35fs)
NM_000237.3(LPL):c.1019-2A>T rs767366957
NM_000237.3(LPL):c.1019-3C>A rs2128839190
NM_000237.3(LPL):c.1322+2T>G
NM_000237.3(LPL):c.249+1G>A rs1563569634
NM_000237.3(LPL):c.264T>A (p.Tyr88Ter) rs118204065
NM_000237.3(LPL):c.566_567del (p.Asn188_Phe189insTer) rs1416098529
NM_000237.3(LPL):c.58_71delinsCCTC (p.Ala20fs)
NM_000238.4(KCNH2):c.100del (p.Ala34fs) rs794728506
NM_000238.4(KCNH2):c.1096C>T (p.Arg366Ter) rs794728364
NM_000238.4(KCNH2):c.1139del (p.Leu380fs) rs1563161538
NM_000238.4(KCNH2):c.1142del (p.Gly381fs) rs794728497
NM_000238.4(KCNH2):c.1291T>C (p.Phe431Leu) rs1554426244
NM_000238.4(KCNH2):c.1293C>A (p.Phe431Leu) rs199472900
NM_000238.4(KCNH2):c.1385dup (p.Met462fs)
NM_000238.4(KCNH2):c.146_147delinsAA (p.Cys49Ter) rs1584883377
NM_000238.4(KCNH2):c.1557+1G>A rs886039043
NM_000238.4(KCNH2):c.1600C>T (p.Arg534Cys) rs199472916
NM_000238.4(KCNH2):c.1620del (p.Arg541fs) rs1554425955
NM_000238.4(KCNH2):c.162C>G (p.Tyr54Ter) rs1554430962
NM_000238.4(KCNH2):c.1660_1661del (p.Met554fs)
NM_000238.4(KCNH2):c.1681G>A (p.Ala561Thr) rs199472921
NM_000238.4(KCNH2):c.1681G>C (p.Ala561Pro) rs199472921
NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val) rs121912504
NM_000238.4(KCNH2):c.1704G>A (p.Trp568Ter) rs199472926
NM_000238.4(KCNH2):c.1714G>A (p.Gly572Ser) rs9333649
NM_000238.4(KCNH2):c.1742del (p.Ser581fs)
NM_000238.4(KCNH2):c.1744C>T (p.Arg582Cys) rs121912508
NM_000238.4(KCNH2):c.1801G>A (p.Gly601Ser) rs199472936
NM_000238.4(KCNH2):c.1810G>A (p.Gly604Ser) rs199473522
NM_000238.4(KCNH2):c.1826A>G (p.Asp609Gly) rs199472940
NM_000238.4(KCNH2):c.1838C>T (p.Thr613Met) rs199473524
NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val) rs199472944
NM_000238.4(KCNH2):c.1853C>T (p.Thr618Ile) rs199472947
NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser) rs121912507
NM_000238.4(KCNH2):c.1888del (p.Val630fs) rs1554425724
NM_000238.4(KCNH2):c.1898A>G (p.Asn633Ser) rs199472961
NM_000238.4(KCNH2):c.1946-2A>C rs794728488
NM_000238.4(KCNH2):c.1955_1960delinsT (p.Tyr652fs)
NM_000238.4(KCNH2):c.205_271del (p.Leu69fs)
NM_000238.4(KCNH2):c.2083C>T (p.Gln695Ter) rs1064794793
NM_000238.4(KCNH2):c.215C>A (p.Pro72Gln) rs199473421
NM_000238.4(KCNH2):c.2230C>T (p.Arg744Ter) rs189014161
NM_000238.4(KCNH2):c.2236del (p.Ala746fs) rs1554425277
NM_000238.4(KCNH2):c.229_230delinsT (p.Arg77fs)
NM_000238.4(KCNH2):c.234_241del (p.Ala79fs) rs886039045
NM_000238.4(KCNH2):c.2376dup (p.Asp793fs)
NM_000238.4(KCNH2):c.2442_2451del (p.Arg814fs) rs1554424849
NM_000238.4(KCNH2):c.2453C>T (p.Ser818Leu) rs121912510
NM_000238.4(KCNH2):c.2464G>A (p.Val822Met) rs121912506
NM_000238.4(KCNH2):c.2494A>T (p.Lys832Ter) rs794728393
NM_000238.4(KCNH2):c.250C>T (p.Gln84Ter)
NM_000238.4(KCNH2):c.2567dup (p.Glu857fs)
NM_000238.4(KCNH2):c.2647del (p.Arg883fs)
NM_000238.4(KCNH2):c.2677_2680dup (p.Arg894fs) rs1385959174
NM_000238.4(KCNH2):c.2680_2686del (p.Arg894fs) rs1554424620
NM_000238.4(KCNH2):c.2701C>T (p.Gln901Ter) rs1800975855
NM_000238.4(KCNH2):c.2705del (p.Pro902fs) rs1563148264
NM_000238.4(KCNH2):c.2724_2728dup (p.Pro910fs) rs794728449
NM_000238.4(KCNH2):c.2729_2744del (p.Pro910fs)
NM_000238.4(KCNH2):c.2734_2738del (p.Arg912fs) rs794728502
NM_000238.4(KCNH2):c.2734_2738dup (p.Ala915fs) rs794728502
NM_000238.4(KCNH2):c.2734dup (p.Arg912fs)
NM_000238.4(KCNH2):c.2736_2751del (p.Ala913fs)
NM_000238.4(KCNH2):c.2762del (p.Gly921fs) rs1584845263
NM_000238.4(KCNH2):c.2762dup (p.Arg922fs)
NM_000238.4(KCNH2):c.2763_2772del (p.Arg922fs) rs1554424390
NM_000238.4(KCNH2):c.2766del (p.Pro923fs) rs1554424403
NM_000238.4(KCNH2):c.2774_2775delinsT (p.Gly925fs) rs2116933379
NM_000238.4(KCNH2):c.2775dup (p.Pro926fs) rs794728455
NM_000238.4(KCNH2):c.2785dup (p.Glu929fs) rs794728458
NM_000238.4(KCNH2):c.2892dup (p.Gly965fs) rs794728462
NM_000238.4(KCNH2):c.2894del (p.Gly965fs)
NM_000238.4(KCNH2):c.2900_2903dup (p.Gly969fs)
NM_000238.4(KCNH2):c.2918del (p.Leu973fs) rs1800958758
NM_000238.4(KCNH2):c.2927del (p.Asp976fs)
NM_000238.4(KCNH2):c.2959_2960del (p.Leu987fs) rs748706373
NM_000238.4(KCNH2):c.3002G>A (p.Trp1001Ter) rs794728401
NM_000238.4(KCNH2):c.307_307+1delinsTT rs1554430850
NM_000238.4(KCNH2):c.3090_3093dup (p.Arg1032fs) rs1554424091
NM_000238.4(KCNH2):c.3090_3102del (p.Arg1032fs) rs1554424070
NM_000238.4(KCNH2):c.3092_3096dup (p.Arg1033fs) rs1554424083
NM_000238.4(KCNH2):c.3092del (p.Gly1031fs) rs1800940404
NM_000238.4(KCNH2):c.3093_3094del (p.Arg1032fs)
NM_000238.4(KCNH2):c.3094del (p.Arg1032fs) rs864622309
NM_000238.4(KCNH2):c.3096_3099dup (p.Pro1034fs) rs794728467
NM_000238.4(KCNH2):c.3099_3109del (p.Pro1034fs) rs794728466
NM_000238.4(KCNH2):c.3100_3107delinsGGC (p.Pro1034fs) rs1800937691
NM_000238.4(KCNH2):c.3107del (p.Gly1036fs) rs794728469
NM_000238.4(KCNH2):c.3107dup (p.Asp1037fs) rs794728469
NM_000238.4(KCNH2):c.3108dup (p.Asp1037fs) rs1584843033
NM_000238.4(KCNH2):c.3136C>T (p.Gln1046Ter)
NM_000238.4(KCNH2):c.3193C>T (p.Gln1065Ter) rs1554423871
NM_000238.4(KCNH2):c.3225_3231del (p.Pro1076fs) rs1584841841
NM_000238.4(KCNH2):c.3330+1G>A rs1368439403
NM_000238.4(KCNH2):c.397del (p.Met133fs)
NM_000238.4(KCNH2):c.422dup (p.Ala142fs) rs2117011733
NM_000238.4(KCNH2):c.453del (p.Thr152fs) rs761863251
NM_000238.4(KCNH2):c.453dup (p.Thr152fs) rs761863251
NM_000238.4(KCNH2):c.462G>A (p.Trp154Ter)
NM_000238.4(KCNH2):c.464_467del (p.Leu155fs)
NM_000238.4(KCNH2):c.545C>A (p.Ser182Ter) rs1057517742
NM_000238.4(KCNH2):c.557dup (p.Gly187fs)
NM_000238.4(KCNH2):c.565_568del (p.Gly189fs) rs794728420
NM_000238.4(KCNH2):c.685G>T (p.Glu229Ter) rs730880116
NM_000238.4(KCNH2):c.735dup (p.Gly246fs)
NM_000238.4(KCNH2):c.749C>A (p.Ser250Ter) rs794728360
NM_000238.4(KCNH2):c.805_808delinsAGT (p.Arg269fs) rs1554427697
NM_000238.4(KCNH2):c.811_812insA (p.Arg271fs) rs1554427692
NM_000238.4(KCNH2):c.892_904del (p.Pro298fs)
NM_000238.4(KCNH2):c.906_910dup (p.Ser304fs) rs1554427596
NM_000256.3(MYBPC3):c.1015C>T (p.Gln339Ter) rs730880631
NM_000256.3(MYBPC3):c.1049del (p.Lys350fs)
NM_000256.3(MYBPC3):c.1090+1G>A rs727504269
NM_000256.3(MYBPC3):c.1091-2A>C
NM_000256.3(MYBPC3):c.1103_1107dup (p.Glu370fs) rs1555122462
NM_000256.3(MYBPC3):c.1120dup (p.Gln374fs) rs730880688
NM_000256.3(MYBPC3):c.1162dup (p.Ala388fs) rs730880724
NM_000256.3(MYBPC3):c.1235_1236del (p.Ile411_Phe412insTer) rs397515894
NM_000256.3(MYBPC3):c.1236dup (p.Glu413Ter) rs397515894
NM_000256.3(MYBPC3):c.1302C>A (p.Tyr434Ter) rs190228518
NM_000256.3(MYBPC3):c.1308C>A (p.Cys436Ter)
NM_000256.3(MYBPC3):c.1316del (p.Gly439fs) rs730880710
NM_000256.3(MYBPC3):c.1350del (p.Glu451fs)
NM_000256.3(MYBPC3):c.1351+1G>C rs727503204
NM_000256.3(MYBPC3):c.1351G>T (p.Glu451Ter) rs786204338
NM_000256.3(MYBPC3):c.1357_1358del (p.Pro453fs) rs727503203
NM_000256.3(MYBPC3):c.1387C>T (p.Gln463Ter) rs730880538
NM_000256.3(MYBPC3):c.1405C>T (p.Gln469Ter) rs730880539
NM_000256.3(MYBPC3):c.1447C>T (p.Gln483Ter) rs730880541
NM_000256.3(MYBPC3):c.1457G>A (p.Trp486Ter) rs730880542
NM_000256.3(MYBPC3):c.1458-1G>A rs397515903
NM_000256.3(MYBPC3):c.1458G>A (p.Trp486Ter) rs1057517920
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly) rs397515905
NM_000256.3(MYBPC3):c.1483del (p.Arg495fs) rs1555122196
NM_000256.3(MYBPC3):c.1531del (p.His511fs)
NM_000256.3(MYBPC3):c.1570_1594del (p.His524fs) rs1555122156
NM_000256.3(MYBPC3):c.1574_1580del (p.Tyr525fs) rs2142860924
NM_000256.3(MYBPC3):c.1575T>G (p.Tyr525Ter) rs397515910
NM_000256.3(MYBPC3):c.1595_1596delinsT (p.Gly532fs)
NM_000256.3(MYBPC3):c.1595del (p.Gly532fs) rs730880640
NM_000256.3(MYBPC3):c.1597C>T (p.Gln533Ter)
NM_000256.3(MYBPC3):c.1624+2T>C rs111437311
NM_000256.3(MYBPC3):c.1633_1640del (p.Leu545fs) rs878853831
NM_000256.3(MYBPC3):c.1641_1642del (p.Tyr548fs) rs398123279
NM_000256.3(MYBPC3):c.1729_1730del (p.Trp577fs) rs1565627536
NM_000256.3(MYBPC3):c.1731G>A (p.Trp577Ter) rs730880546
NM_000256.3(MYBPC3):c.1776_1777del (p.Ser593fs) rs730880713
NM_000256.3(MYBPC3):c.1777del (p.Ser593fs)
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs) rs397515925
NM_000256.3(MYBPC3):c.1800del (p.Lys600fs) rs397515926
NM_000256.3(MYBPC3):c.1812_1813dup (p.Asp605fs) rs764743402
NM_000256.3(MYBPC3):c.1827_1846delinsTACAGC (p.Asp610fs) rs1555121907
NM_000256.3(MYBPC3):c.1831G>T (p.Glu611Ter) rs730880555
NM_000256.3(MYBPC3):c.1890del (p.Phe631fs) rs1565627110
NM_000256.3(MYBPC3):c.1900del (p.Val634fs) rs2142859074
NM_000256.3(MYBPC3):c.1924C>T (p.Gln642Ter) rs727504293
NM_000256.3(MYBPC3):c.1927G>T (p.Glu643Ter) rs1555121871
NM_000256.3(MYBPC3):c.1928-2A>G rs397515937
NM_000256.3(MYBPC3):c.1950del (p.Cys651fs)
NM_000256.3(MYBPC3):c.1960_1971delinsT (p.Arg654fs)
NM_000256.3(MYBPC3):c.1999_2000delinsG (p.Leu667fs) rs727503192
NM_000256.3(MYBPC3):c.2015del (p.Pro672fs)
NM_000256.3(MYBPC3):c.2067+1G>A rs1444727212
NM_000256.3(MYBPC3):c.2079_2085del (p.Pro694fs)
NM_000256.3(MYBPC3):c.2082_2086del (p.Arg696fs)
NM_000256.3(MYBPC3):c.2096del (p.Pro699fs) rs397515947
NM_000256.3(MYBPC3):c.2113dup (p.Thr705fs) rs397515948
NM_000256.3(MYBPC3):c.2149-1G>A rs727504334
NM_000256.3(MYBPC3):c.2158G>T (p.Glu720Ter) rs886039028
NM_000256.3(MYBPC3):c.2221del (p.Ala741fs) rs730880650
NM_000256.3(MYBPC3):c.2281del (p.Gln761fs)
NM_000256.3(MYBPC3):c.2309-2A>G rs111729952
NM_000256.3(MYBPC3):c.230del (p.Gly77fs)
NM_000256.3(MYBPC3):c.2310del (p.Asp770fs) rs1555121331
NM_000256.3(MYBPC3):c.2311dup (p.Val771fs) rs397515960
NM_000256.3(MYBPC3):c.2334del (p.Lys779fs) rs1057518030
NM_000256.3(MYBPC3):c.2364C>A (p.Cys788Ter)
NM_000256.3(MYBPC3):c.236dup (p.Tyr79Ter) rs1057517939
NM_000256.3(MYBPC3):c.2371C>T (p.Gln791Ter) rs863225106
NM_000256.3(MYBPC3):c.2451del (p.Trp818fs) rs1555121247
NM_000256.3(MYBPC3):c.2455_2459del (p.Met819fs) rs730880652
NM_000256.3(MYBPC3):c.25+1G>A rs113709679
NM_000256.3(MYBPC3):c.2500_2501del (p.Arg834fs)
NM_000256.3(MYBPC3):c.2503del (p.Arg835fs)
NM_000256.3(MYBPC3):c.2526C>A (p.Tyr842Ter) rs373792537
NM_000256.3(MYBPC3):c.2556_2557delinsTCT (p.Gly853fs) rs397515975
NM_000256.3(MYBPC3):c.2584C>T (p.Gln862Ter)
NM_000256.3(MYBPC3):c.2603-2A>G rs1419155559
NM_000256.3(MYBPC3):c.2604_2605insA (p.Pro869fs) rs1555120956
NM_000256.3(MYBPC3):c.2639_2642dup (p.Ser882fs)
NM_000256.3(MYBPC3):c.2700_2703dup (p.Asp902fs) rs1555120927
NM_000256.3(MYBPC3):c.2709_2719del (p.Tyr904fs) rs730880657
NM_000256.3(MYBPC3):c.2727C>A (p.Cys909Ter) rs886038822
NM_000256.3(MYBPC3):c.2747G>A (p.Trp916Ter) rs727504349
NM_000256.3(MYBPC3):c.2766del (p.Gly922_Leu923insTer) rs1565624196
NM_000256.3(MYBPC3):c.2767del (p.Gly922_Leu923insTer) rs2142853009
NM_000256.3(MYBPC3):c.2780_2781del (p.Thr927fs) rs727504265
NM_000256.3(MYBPC3):c.2807del (p.Thr936fs)
NM_000256.3(MYBPC3):c.2842_2843del (p.Asn948fs) rs2142852888
NM_000256.3(MYBPC3):c.2875_2876del (p.Thr959fs) rs727503182
NM_000256.3(MYBPC3):c.2905+1G>A rs397515991
NM_000256.3(MYBPC3):c.2906-2A>G rs727504333
NM_000256.3(MYBPC3):c.2990del (p.Phe997fs)
NM_000256.3(MYBPC3):c.29C>A (p.Ser10Ter)
NM_000256.3(MYBPC3):c.3079G>AA rs730880666
NM_000256.3(MYBPC3):c.310del (p.Leu104fs) rs1565631428
NM_000256.3(MYBPC3):c.3124_3125insAA (p.Thr1042fs) rs1064793202
NM_000256.3(MYBPC3):c.3192dup (p.Lys1065fs) rs397516007
NM_000256.3(MYBPC3):c.3208C>T (p.Gln1070Ter)
NM_000256.3(MYBPC3):c.3228_3229insT (p.Ala1077fs) rs1555120529
NM_000256.3(MYBPC3):c.3233G>A (p.Trp1078Ter) rs397516006
NM_000256.3(MYBPC3):c.3240dup (p.Asn1081Ter)
NM_000256.3(MYBPC3):c.3242dup (p.Asn1081fs)
NM_000256.3(MYBPC3):c.3273_3280delinsACTCTGGGGGTACAC (p.Asp1091fs)
NM_000256.3(MYBPC3):c.3288del (p.Glu1096fs) rs727503172
NM_000256.3(MYBPC3):c.3294G>A (p.Trp1098Ter) rs767039057
NM_000256.3(MYBPC3):c.3302del (p.Thr1101fs) rs730880670
NM_000256.3(MYBPC3):c.3321dup (p.Lys1108fs) rs730880672
NM_000256.3(MYBPC3):c.3328del (p.Met1110fs) rs2142850736
NM_000256.3(MYBPC3):c.3330+2T>A rs387906397
NM_000256.3(MYBPC3):c.3330+5G>C rs373746463
NM_000256.3(MYBPC3):c.3331-1G>A rs727504305
NM_000256.3(MYBPC3):c.3331-1G>C rs727504305
NM_000256.3(MYBPC3):c.3369_3370insA (p.Cys1124fs)
NM_000256.3(MYBPC3):c.3372C>A (p.Cys1124Ter) rs727504289
NM_000256.3(MYBPC3):c.3467dup (p.Pro1157fs) rs730880720
NM_000256.3(MYBPC3):c.3490+1G>A rs397516020
NM_000256.3(MYBPC3):c.3491-1G>A
NM_000256.3(MYBPC3):c.350del (p.Pro117fs) rs397516023
NM_000256.3(MYBPC3):c.3553C>T (p.Gln1185Ter) rs730880699
NM_000256.3(MYBPC3):c.3607_3611dup (p.Arg1205fs)
NM_000256.3(MYBPC3):c.3627+1G>A rs397516031
NM_000256.3(MYBPC3):c.3627+2del rs1555120258
NM_000256.3(MYBPC3):c.362del (p.Pro121fs) rs397516032
NM_000256.3(MYBPC3):c.3702_3703del (p.Leu1236fs) rs2142849399
NM_000256.3(MYBPC3):c.3720dup (p.Arg1241Ter)
NM_000256.3(MYBPC3):c.373_374del (p.Ala124_Ala125insTer) rs1057517767
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup) rs193922384
NM_000256.3(MYBPC3):c.3773T>A (p.Leu1258Ter) rs730880604
NM_000256.3(MYBPC3):c.3773T>G (p.Leu1258Ter) rs730880604
NM_000256.3(MYBPC3):c.379dup (p.Leu127fs)
NM_000256.3(MYBPC3):c.405dup (p.Gly136fs) rs1555123597
NM_000256.3(MYBPC3):c.416C>G (p.Ser139Ter) rs730880704
NM_000256.3(MYBPC3):c.480del (p.Pro161fs) rs1555123496
NM_000256.3(MYBPC3):c.484C>T (p.Gln162Ter) rs730880618
NM_000256.3(MYBPC3):c.505_505+7del rs1555123473
NM_000256.3(MYBPC3):c.528_532del (p.Arg177fs)
NM_000256.3(MYBPC3):c.551dup (p.Lys185fs) rs397516059
NM_000256.3(MYBPC3):c.613C>T (p.Gln205Ter) rs397516061
NM_000256.3(MYBPC3):c.653delinsGCTGGTGACCC (p.Lys218delinsSerTrpTer)
NM_000256.3(MYBPC3):c.655-1G>A rs397516067
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) rs397516068
NM_000256.3(MYBPC3):c.660T>G (p.Tyr220Ter) rs1555123138
NM_000256.3(MYBPC3):c.710A>C (p.Tyr237Ser) rs397516070
NM_000256.3(MYBPC3):c.772+1G>A rs397516072
NM_000256.3(MYBPC3):c.775del (p.Ala259fs)
NM_000256.3(MYBPC3):c.787G>T (p.Gly263Ter) rs373730381
NM_000256.3(MYBPC3):c.821+1G>C rs397516073
NM_000256.3(MYBPC3):c.833del (p.Gly278fs) rs727503212
NM_000256.3(MYBPC3):c.862G>T (p.Glu288Ter)
NM_000256.3(MYBPC3):c.884del (p.Phe295fs) rs730880684
NM_000256.3(MYBPC3):c.901A>T (p.Lys301Ter) rs730880629
NM_000256.3(MYBPC3):c.906-36G>A rs864622197
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs) rs397516080
NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter) rs193922386
NM_000256.3(MYBPC3):c.965G>A (p.Trp322Ter) rs2142864321
NM_000256.3(MYBPC3):c.966G>A (p.Trp322Ter) rs727503211
NM_000256.3(MYBPC3):c.98_99del (p.Thr33fs) rs745811346
NM_000256.3(MYBPC3):c.999C>G (p.Tyr333Ter) rs367947846
NM_000257.3(MYH7):c.4522_4524del rs397516220
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) rs397516089
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) rs3218714
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln) rs121913624
NM_000257.4(MYH7):c.1208G>T (p.Arg403Leu) rs121913624
NM_000257.4(MYH7):c.1594T>C (p.Ser532Pro) rs121913642
NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg) rs121913626
NM_000257.4(MYH7):c.1955G>A (p.Arg652Lys)
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) rs397516127
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys) rs727503263
NM_000257.4(MYH7):c.2150A>C (p.Asp717Ala)
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr) rs727503261
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) rs121913632
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_000257.4(MYH7):c.2302G>A (p.Gly768Arg) rs727503260
NM_000257.4(MYH7):c.2302G>C (p.Gly768Arg) rs727503260
NM_000257.4(MYH7):c.2334C>A (p.Asp778Glu) rs2069544
NM_000257.4(MYH7):c.2334C>G (p.Asp778Glu) rs2069544
NM_000257.4(MYH7):c.2539A>G (p.Lys847Glu) rs727504310
NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys) rs727503253
NM_000257.4(MYH7):c.2711G>A (p.Arg904His) rs397516165
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000257.4(MYH7):c.2788G>A (p.Glu930Lys) rs397516171
NM_000257.4(MYH7):c.5177AGA[3] (p.Lys1729del) rs367543052
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000257.4(MYH7):c.740T>G (p.Phe247Cys) rs730880922
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) rs3218713
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) rs397516269
NM_000335.5(SCN5A):c.1230del (p.Val411fs)
NM_000335.5(SCN5A):c.1231G>A (p.Val411Met) rs72549410
NM_000335.5(SCN5A):c.1338+2T>A rs786204839
NM_000335.5(SCN5A):c.1460_1461dup (p.Glu488fs)
NM_000335.5(SCN5A):c.1603C>T (p.Arg535Ter) rs1417036453
NM_000335.5(SCN5A):c.1679C>G (p.Ser560Ter)
NM_000335.5(SCN5A):c.1894_1897del (p.Thr632fs)
NM_000335.5(SCN5A):c.1936del (p.Gln646fs) rs727505158
NM_000335.5(SCN5A):c.204T>A (p.Tyr68Ter) rs1553607561
NM_000335.5(SCN5A):c.2082C>A (p.Tyr694Ter)
NM_000335.5(SCN5A):c.2254G>A (p.Gly752Arg) rs199473153
NM_000335.5(SCN5A):c.2254G>C (p.Gly752Arg)
NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp) rs199473161
NM_000335.5(SCN5A):c.2520del (p.Asn841fs)
NM_000335.5(SCN5A):c.2533del (p.Val845fs) rs794728912
NM_000335.5(SCN5A):c.2533dup (p.Val845fs) rs794728912
NM_000335.5(SCN5A):c.2550_2551dup (p.Phe851fs) rs397514450
NM_000335.5(SCN5A):c.2575C>T (p.Gln859Ter) rs794728865
NM_000335.5(SCN5A):c.2582_2583del (p.Phe861fs) rs794728914
NM_000335.5(SCN5A):c.2799_2800del (p.Phe934fs)
NM_000335.5(SCN5A):c.2865_2866del (p.Glu955fs) rs756159737
NM_000335.5(SCN5A):c.2998C>T (p.Gln1000Ter)
NM_000335.5(SCN5A):c.310C>T (p.Arg104Trp) rs199473055
NM_000335.5(SCN5A):c.3142_3153delinsTCTGACTGTGT (p.Pro1048fs) rs794728917
NM_000335.5(SCN5A):c.3259del (p.Ala1087fs) rs1553699292
NM_000335.5(SCN5A):c.3281G>A (p.Trp1094Ter)
NM_000335.5(SCN5A):c.3342G>A (p.Trp1114Ter)
NM_000335.5(SCN5A):c.3458del (p.Ile1153fs)
NM_000335.5(SCN5A):c.3693del (p.Lys1232fs)
NM_000335.5(SCN5A):c.3762del (p.Leu1255fs) rs2125849694
NM_000335.5(SCN5A):c.3809G>A (p.Trp1270Ter) rs1553696647
NM_000335.5(SCN5A):c.3992C>T (p.Pro1331Leu) rs199473225
NM_000335.5(SCN5A):c.4085del (p.Cys1362fs) rs2125840793
NM_000335.5(SCN5A):c.40del (p.Arg14fs)
NM_000335.5(SCN5A):c.4144C>T (p.Gln1382Ter) rs1553695282
NM_000335.5(SCN5A):c.4179C>G (p.Tyr1393Ter) rs863224532
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) rs137854612
NM_000335.5(SCN5A):c.4381del (p.Thr1460_Leu1461insTer) rs1553694426
NM_000335.5(SCN5A):c.4420del (p.Gln1474fs) rs886039018
NM_000335.5(SCN5A):c.4516_4524del (p.Gln1506_Pro1508del) rs397514251
NM_000335.5(SCN5A):c.481G>A (p.Glu161Lys) rs199473062
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) rs137854613
NM_000335.5(SCN5A):c.5381A>G (p.Tyr1794Cys) rs137854614
NM_000335.5(SCN5A):c.576del (p.Trp193fs) rs2062303387
NM_000335.5(SCN5A):c.611+1G>A rs794728843
NM_000335.5(SCN5A):c.664C>T (p.Arg222Ter) rs794728849
NM_000335.5(SCN5A):c.904G>T (p.Glu302Ter) rs1060501136
NM_000363.5(TNNI3):c.433C>G (p.Arg145Gly) rs104894724
NM_000363.5(TNNI3):c.523C>T (p.Gln175Ter) rs876661394
NM_000363.5(TNNI3):c.575G>A (p.Arg192His) rs104894729
NM_000363.5(TNNI3):c.611G>A (p.Arg204His) rs727504275
NM_000363.5(TNNI3):c.61C>T (p.Arg21Cys) rs267607128
NM_000371.4(TTR):c.112G>A (p.Asp38Asn) rs1567945632
NM_000371.4(TTR):c.114T>A (p.Asp38Glu) rs779619795
NM_000371.4(TTR):c.148G>C (p.Val50Leu) rs28933979
NM_000371.4(TTR):c.157T>C (p.Phe53Leu) rs121918068
NM_000371.4(TTR):c.173A>C (p.Asp58Ala) rs1598844213
NM_000371.4(TTR):c.193G>A (p.Ala65Thr) rs121918078
NM_000371.4(TTR):c.200G>A (p.Gly67Glu) rs121918090
NM_000371.4(TTR):c.200G>C (p.Gly67Ala) rs121918090
NM_000371.4(TTR):c.200G>T (p.Gly67Val) rs121918090
NM_000371.4(TTR):c.210T>A (p.Ser70Arg) rs121918076
NM_000371.4(TTR):c.210T>G (p.Ser70Arg) rs121918076
NM_000371.4(TTR):c.214T>C (p.Ser72Pro) rs2144409444
NM_000371.4(TTR):c.220G>A (p.Glu74Lys) rs1555631393
NM_000371.4(TTR):c.221A>G (p.Glu74Gly) rs1598845097
NM_000371.4(TTR):c.233T>A (p.Leu78His) rs121918069
NM_000371.4(TTR):c.250T>C (p.Phe84Leu) rs121918091
NM_000371.4(TTR):c.290C>A (p.Ser97Tyr) rs121918071
NM_000371.4(TTR):c.290C>T (p.Ser97Phe)
NM_000371.4(TTR):c.311T>G (p.Ile104Ser) rs121918072
NM_000371.4(TTR):c.323A>G (p.His108Arg) rs2073511411
NM_000371.4(TTR):c.325G>A (p.Glu109Lys) rs121918082
NM_000371.4(TTR):c.325G>C (p.Glu109Gln) rs121918082
NM_000371.4(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000371.4(TTR):c.94C>G (p.Leu32Val) rs2144406525
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000384.3(APOB):c.11040T>G (p.Tyr3680Ter) rs1663118269
NM_000384.3(APOB):c.4006C>T (p.Gln1336Ter) rs1663384393
NM_000483.5(APOC2):c.196_197del (p.Ala66fs) rs751214954
NM_000527.4(LDLR):c.-136C>T rs879254374
NM_000527.4(LDLR):c.1706_1715delATCTCCTCAG
NM_000527.4(LDLR):c.313+1G>A
NM_000527.4(LDLR):c.694+2T>C rs200238879
NM_000527.5(LDLR):c.100T>G (p.Cys34Gly) rs879254405
NM_000527.5(LDLR):c.1012T>G (p.Cys338Gly) rs879254753
NM_000527.5(LDLR):c.1013G>A (p.Cys338Tyr)
NM_000527.5(LDLR):c.1019G>A (p.Cys340Tyr) rs755757866
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1033C>T (p.Gln345Ter)
NM_000527.5(LDLR):c.1046dup (p.Arg350fs) rs1555804545
NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)
NM_000527.5(LDLR):c.1056C>G (p.Cys352Trp) rs13306515
NM_000527.5(LDLR):c.1056_1060+3del rs879254770
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
NM_000527.5(LDLR):c.1102T>C (p.Cys368Arg) rs879254791
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
NM_000527.5(LDLR):c.1104C>A (p.Cys368Ter) rs113669610
NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp)
NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs) rs875989916
NM_000527.5(LDLR):c.1124A>G (p.Tyr375Cys) rs879254800
NM_000527.5(LDLR):c.1129T>C (p.Cys377Arg)
NM_000527.5(LDLR):c.1130G>A (p.Cys377Tyr) rs879254801
NM_000527.5(LDLR):c.1130G>C (p.Cys377Ser) rs879254801
NM_000527.5(LDLR):c.1130G>T (p.Cys377Phe) rs879254801
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)
NM_000527.5(LDLR):c.1164del (p.His388fs)
NM_000527.5(LDLR):c.1169del (p.Lys390fs)
NM_000527.5(LDLR):c.1186+1G>T rs730880131
NM_000527.5(LDLR):c.1187-10G>A
NM_000527.5(LDLR):c.1196C>A (p.Ala399Asp) rs875989918
NM_000527.5(LDLR):c.1199_1207del (p.Tyr400_Phe402del) rs879254826
NM_000527.5(LDLR):c.11G>A (p.Trp4Ter) rs201016593
NM_000527.5(LDLR):c.1202T>A (p.Leu401His) rs121908038
NM_000527.5(LDLR):c.1216C>A (p.Arg406=) rs121908043
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1244_1245del (p.Asp415fs)
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
NM_000527.5(LDLR):c.1255dup (p.Tyr419fs) rs2077408827
NM_000527.5(LDLR):c.1257C>G (p.Tyr419Ter) rs774439908
NM_000527.5(LDLR):c.1268T>C (p.Ile423Thr) rs879254849
NM_000527.5(LDLR):c.1277T>C (p.Leu426Pro) rs879254851
NM_000527.5(LDLR):c.1284del (p.Asn428fs) rs2077409930
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.1309_1310insTCGCTCTGGACACGTAGGTGG (p.Ala437delinsValAlaLeuAspThrTer) rs2077410686
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.5(LDLR):c.1322T>C (p.Ile441Thr) rs879254862
NM_000527.5(LDLR):c.1329G>A (p.Trp443Ter) rs879254867
NM_000527.5(LDLR):c.132G>A (p.Trp44Ter) rs1555802287
NM_000527.5(LDLR):c.1342C>T (p.Gln448Ter)
NM_000527.5(LDLR):c.1358+2T>A rs193922567
NM_000527.5(LDLR):c.1361_1364del (p.Thr454fs)
NM_000527.5(LDLR):c.136_142del (p.Cys46fs)
NM_000527.5(LDLR):c.1413_1414delinsGGACAT (p.Gln474fs) rs1555805360
NM_000527.5(LDLR):c.1428dup (p.Asp477fs) rs876657697
NM_000527.5(LDLR):c.1447T>C (p.Trp483Arg) rs879254905
NM_000527.5(LDLR):c.1468T>C (p.Trp490Arg) rs730880130
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs) rs869025453
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1586+1G>A
NM_000527.5(LDLR):c.1587-1G>A rs879254948
NM_000527.5(LDLR):c.1597T>A (p.Trp533Arg)
NM_000527.5(LDLR):c.1613_1622del (p.Thr538fs)
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1686G>A (p.Trp562Ter) rs879254985
NM_000527.5(LDLR):c.1694G>T (p.Gly565Val) rs28942082
NM_000527.5(LDLR):c.1705+1G>A rs875989926
NM_000527.5(LDLR):c.1706-1G>T rs879254996
NM_000527.5(LDLR):c.1729T>C (p.Trp577Arg) rs879255000
NM_000527.5(LDLR):c.1730G>A (p.Trp577Ter) rs138947766
NM_000527.5(LDLR):c.1735G>A (p.Asp579Asn) rs875989929
NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro) rs875989930
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.1784_1790del (p.Arg595fs) rs879255020
NM_000527.5(LDLR):c.1808dup (p.Arg604fs) rs1555806526
NM_000527.5(LDLR):c.1810_1811del (p.Arg604fs)
NM_000527.5(LDLR):c.1844A>T (p.Glu615Val) rs879255046
NM_000527.5(LDLR):c.1845+1G>A rs879255049
NM_000527.5(LDLR):c.1845+2T>C
NM_000527.5(LDLR):c.1860G>A (p.Trp620Ter) rs875989933
NM_000527.5(LDLR):c.1865A>G (p.Asp622Gly) rs879255060
NM_000527.5(LDLR):c.1867dup (p.Ile623fs) rs1555807206
NM_000527.5(LDLR):c.1868TCA[1] (p.Ile624del)
NM_000527.5(LDLR):c.1876G>T (p.Glu626Ter)
NM_000527.5(LDLR):c.1878del (p.Ala627fs) rs1057516134
NM_000527.5(LDLR):c.1886del (p.Phe629fs) rs879255068
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
NM_000527.5(LDLR):c.190+1G>A rs879254428
NM_000527.5(LDLR):c.191-1G>A rs879254433
NM_000527.5(LDLR):c.191-2A>G rs544203837
NM_000527.5(LDLR):c.1911del (p.Asp638fs) rs867272973
NM_000527.5(LDLR):c.1922T>A (p.Leu641Ter) rs2077524952
NM_000527.5(LDLR):c.193_202delinsGGACTTCA (p.Ser65fs)
NM_000527.5(LDLR):c.1955dup (p.Met652fs)
NM_000527.5(LDLR):c.195_196insAT (p.Val66fs) rs879254435
NM_000527.5(LDLR):c.1988-50_2007del
NM_000527.5(LDLR):c.1998G>A (p.Trp666Ter) rs752935814
NM_000527.5(LDLR):c.1A>G (p.Met1Val) rs879254382
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083
NM_000527.5(LDLR):c.2001T>A (p.Cys667Ter) rs879255109
NM_000527.5(LDLR):c.2027del (p.Gly676fs) rs875989937
NM_000527.5(LDLR):c.2037T>A (p.Tyr679Ter) rs760436036
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.2055_2068del (p.Gln686fs) rs2077532372
NM_000527.5(LDLR):c.2056C>T (p.Gln686Ter) rs879255126
NM_000527.5(LDLR):c.2068del (p.His690fs) rs879255130
NM_000527.5(LDLR):c.2072C>A (p.Ser691Ter) rs369943481
NM_000527.5(LDLR):c.2094C>G (p.Cys698Trp) rs879255137
NM_000527.5(LDLR):c.2099_2102dup (p.Met702fs)
NM_000527.5(LDLR):c.2140+1G>A rs145787161
NM_000527.5(LDLR):c.2140+1G>T rs145787161
NM_000527.5(LDLR):c.214del (p.Asp72fs) rs879254438
NM_000527.5(LDLR):c.2167del (p.Glu723fs) rs879255153
NM_000527.5(LDLR):c.2180_2184dup (p.Leu729fs) rs1555808044
NM_000527.5(LDLR):c.2187_2197del (p.Lys730fs) rs879255159
NM_000527.5(LDLR):c.2207dup (p.Arg737fs) rs879255164
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter) rs370018159
NM_000527.5(LDLR):c.2270del (p.Pro757fs) rs1131692223
NM_000527.5(LDLR):c.2271del (p.Leu759fs)
NM_000527.5(LDLR):c.2274del (p.Leu759fs) rs1555808139
NM_000527.5(LDLR):c.2292del (p.Ile764fs) rs875989941
NM_000527.5(LDLR):c.2311+1G>A rs879255175
NM_000527.5(LDLR):c.2311+1G>T
NM_000527.5(LDLR):c.2312-3C>A
NM_000527.5(LDLR):c.2340del (p.Asn780fs)
NM_000527.5(LDLR):c.2389+1G>T rs879255186
NM_000527.5(LDLR):c.2389+4A>G rs758493597
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
NM_000527.5(LDLR):c.2389G>T (p.Val797Leu) rs750518671
NM_000527.5(LDLR):c.2390-2A>G rs767790696
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
NM_000527.5(LDLR):c.2431A>T (p.Lys811Ter)
NM_000527.5(LDLR):c.2438G>A (p.Trp813Ter) rs879255212
NM_000527.5(LDLR):c.2475C>G (p.Asn825Lys) rs374045590
NM_000527.5(LDLR):c.2478del (p.Val827fs) rs747344293
NM_000527.5(LDLR):c.249delinsGG (p.Ile83fs) rs1600704961
NM_000527.5(LDLR):c.2502dup (p.Glu835Ter)
NM_000527.5(LDLR):c.2547+1G>T
NM_000527.5(LDLR):c.267C>G (p.Cys89Trp) rs777640882
NM_000527.5(LDLR):c.269A>C (p.Asp90Ala) rs771019366
NM_000527.5(LDLR):c.269A>G (p.Asp90Gly) rs771019366
NM_000527.5(LDLR):c.270T>A (p.Asp90Glu) rs372828849
NM_000527.5(LDLR):c.283T>C (p.Cys95Arg) rs879254456
NM_000527.5(LDLR):c.284G>T (p.Cys95Phe) rs879254457
NM_000527.5(LDLR):c.296C>G (p.Ser99Ter) rs377271627
NM_000527.5(LDLR):c.304C>T (p.Gln102Ter) rs563390335
NM_000527.5(LDLR):c.313+1G>C rs112029328
NM_000527.5(LDLR):c.313+2dup rs875989897
NM_000527.5(LDLR):c.314-1G>A rs879254471
NM_000527.5(LDLR):c.320del (p.Lys107fs)
NM_000527.5(LDLR):c.334_349dup (p.His117fs)
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)
NM_000527.5(LDLR):c.337dup (p.Glu113fs) rs752191968
NM_000527.5(LDLR):c.373C>T (p.Gln125Ter) rs875989899
NM_000527.5(LDLR):c.378del (p.Phe126fs) rs1555803213
NM_000527.5(LDLR):c.400T>A (p.Cys134Ser)
NM_000527.5(LDLR):c.400T>C (p.Cys134Arg) rs875989900
NM_000527.5(LDLR):c.401G>A (p.Cys134Tyr) rs879254514
NM_000527.5(LDLR):c.415_416del (p.Asp139fs)
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
NM_000527.5(LDLR):c.41dup (p.Leu14fs) rs879254388
NM_000527.5(LDLR):c.420G>C (p.Glu140Asp) rs879254520
NM_000527.5(LDLR):c.428G>A (p.Cys143Tyr) rs879254522
NM_000527.5(LDLR):c.443G>A (p.Cys148Tyr) rs879254526
NM_000527.5(LDLR):c.463T>G (p.Cys155Gly) rs879254535
NM_000527.5(LDLR):c.467del (p.Asn156fs) rs1057516135
NM_000527.5(LDLR):c.478T>C (p.Cys160Arg) rs879254540
NM_000527.5(LDLR):c.478T>G (p.Cys160Gly) rs879254540
NM_000527.5(LDLR):c.479G>A (p.Cys160Tyr)
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
NM_000527.5(LDLR):c.502G>C (p.Asp168His) rs200727689
NM_000527.5(LDLR):c.513del (p.Asp172fs) rs879254552
NM_000527.5(LDLR):c.513dup (p.Asp172fs) rs879254552
NM_000527.5(LDLR):c.518del (p.Cys173fs) rs879254559
NM_000527.5(LDLR):c.519C>G (p.Cys173Trp) rs769318035
NM_000527.5(LDLR):c.520G>T (p.Glu174Ter) rs777326720
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
NM_000527.5(LDLR):c.557del (p.Gly186fs) rs879254573
NM_000527.5(LDLR):c.564C>A (p.Tyr188Ter) rs121908034
NM_000527.5(LDLR):c.564C>G (p.Tyr188Ter) rs121908034
NM_000527.5(LDLR):c.589T>C (p.Cys197Arg) rs730882085
NM_000527.5(LDLR):c.589T>G (p.Cys197Gly) rs730882085
NM_000527.5(LDLR):c.590G>T (p.Cys197Phe) rs376459828
NM_000527.5(LDLR):c.591C>G (p.Cys197Trp) rs879254584
NM_000527.5(LDLR):c.610T>C (p.Cys204Arg) rs1057519655
NM_000527.5(LDLR):c.621C>T (p.Gly207=) rs121908044
NM_000527.5(LDLR):c.642G>A (p.Trp214Ter) rs879254606
NM_000527.5(LDLR):c.648_665del (p.Asp217_Cys222del)
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) rs121908027
NM_000527.5(LDLR):c.653del (p.Gly218fs) rs137853966
NM_000527.5(LDLR):c.660del (p.Asp221fs) rs875989905
NM_000527.5(LDLR):c.661delinsATCAC (p.Asp221fs) rs2077280444
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.663_683dup (p.Asp221_Asp227dup) rs879254620
NM_000527.5(LDLR):c.665G>A (p.Cys222Tyr) rs730882086
NM_000527.5(LDLR):c.670G>A (p.Asp224Asn) rs387906303
NM_000527.5(LDLR):c.671A>T (p.Asp224Val) rs879254630
NM_000527.5(LDLR):c.678del (p.Asp227fs)
NM_000527.5(LDLR):c.68-1G>C rs879254397
NM_000527.5(LDLR):c.68-2A>T rs879254396
NM_000527.5(LDLR):c.680_681del (p.Asp227fs) rs387906305
NM_000527.5(LDLR):c.680_682delinsCGGTATGGACTGCA (p.Asp227fs) rs879254637
NM_000527.5(LDLR):c.681C>A (p.Asp227Glu) rs121908028
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.682G>C (p.Glu228Gln)
NM_000527.5(LDLR):c.691T>C (p.Cys231Arg) rs746091400
NM_000527.5(LDLR):c.691T>G (p.Cys231Gly) rs746091400
NM_000527.5(LDLR):c.693C>A (p.Cys231Ter)
NM_000527.5(LDLR):c.693C>G (p.Cys231Trp) rs121908035
NM_000527.5(LDLR):c.694+1G>T rs879254646
NM_000527.5(LDLR):c.695-1G>A rs879254652
NM_000527.5(LDLR):c.695-1G>C
NM_000527.5(LDLR):c.6del (p.Trp4fs) rs875989888
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro) rs879254667
NM_000527.5(LDLR):c.779_782del (p.Asp260fs) rs1600713742
NM_000527.5(LDLR):c.796G>C (p.Asp266His)
NM_000527.5(LDLR):c.796G>T (p.Asp266Tyr) rs875989907
NM_000527.5(LDLR):c.818-1G>A rs879254688
NM_000527.5(LDLR):c.818-2A>G
NM_000527.5(LDLR):c.81C>A (p.Cys27Ter) rs2228671
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000527.5(LDLR):c.825_826del (p.Cys276fs) rs879254691
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.5(LDLR):c.881_882del (p.Lys294fs) rs879254704
NM_000527.5(LDLR):c.912C>G (p.Asp304Glu) rs875989909
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu) rs11547917
NM_000527.5(LDLR):c.91G>T (p.Glu31Ter) rs776421777
NM_000527.5(LDLR):c.938_939delinsAT (p.Cys313Tyr) rs875989910
NM_000527.5(LDLR):c.939C>A (p.Cys313Ter) rs13306512
NM_000527.5(LDLR):c.953G>T (p.Cys318Phe)
NM_000527.5(LDLR):c.966del (p.Asn322fs) rs2077361078
NM_000527.5(LDLR):c.974G>A (p.Cys325Tyr) rs879254746
NM_000527.5(LDLR):c.979del (p.His327fs) rs2077361581
NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)
NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg) rs79891110
NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys) rs786205748
NM_000719.7(CACNA1C):c.3524_3527del (p.Gln1175fs)
NM_000784.4(CYP27A1):c.398G>A (p.Trp133Ter) rs1559391480
NM_000890.5(KCNJ5):c.451G>A (p.Gly151Arg) rs386352319
NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp) rs104894580
NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp) rs199473373
NM_000891.3(KCNJ2):c.653G>A (p.Arg218Gln) rs199473384
NM_001005242.3(PKP2):c.1003G>T (p.Glu335Ter) rs1396519956
NM_001005242.3(PKP2):c.1138G>T (p.Glu380Ter) rs878898365
NM_001005242.3(PKP2):c.1170+2T>A rs397516987
NM_001005242.3(PKP2):c.1177C>T (p.Gln393Ter) rs786204393
NM_001005242.3(PKP2):c.1211dup (p.Val406fs) rs397516989
NM_001005242.3(PKP2):c.1219C>T (p.Gln407Ter) rs1555145520
NM_001005242.3(PKP2):c.1234C>T (p.Gln412Ter) rs1565590309
NM_001005242.3(PKP2):c.1368del (p.Lys456fs) rs1393661338
NM_001005242.3(PKP2):c.1378+1G>C rs397516994
NM_001005242.3(PKP2):c.1378+2T>A rs762103704
NM_001005242.3(PKP2):c.144_165del (p.Gln49fs) rs930283260
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs) rs397516997
NM_001005242.3(PKP2):c.1511del (p.Gly504fs) rs794729137
NM_001005242.3(PKP2):c.1532del (p.Phe511fs) rs794729127
NM_001005242.3(PKP2):c.1556+1G>A rs397517003
NM_001005242.3(PKP2):c.1627del (p.Val543fs) rs397517008
NM_001005242.3(PKP2):c.1667del (p.Asp556fs) rs794729128
NM_001005242.3(PKP2):c.1689dup (p.Val564fs) rs397517010
NM_001005242.3(PKP2):c.1769del (p.Asn590fs) rs1064793231
NM_001005242.3(PKP2):c.1771del (p.Arg591fs) rs1555142984
NM_001005242.3(PKP2):c.1788_1789del (p.Asp596fs)
NM_001005242.3(PKP2):c.1807_1829del (p.Cys603fs) rs1555142963
NM_001005242.3(PKP2):c.1820_1823dup (p.Ser608fs) rs397517013
NM_001005242.3(PKP2):c.1881del (p.Lys628fs) rs764817683
NM_001005242.3(PKP2):c.190dup (p.Leu64fs) rs762288961
NM_001005242.3(PKP2):c.1993del (p.Leu665fs)
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs) rs397517021
NM_001005242.3(PKP2):c.2071C>T (p.Arg691Ter) rs121434421
NM_001005242.3(PKP2):c.2180_2181del (p.Leu727fs) rs1064794350
NM_001005242.3(PKP2):c.218dup (p.Asn74fs) rs1257456477
NM_001005242.3(PKP2):c.2254T>C (p.Cys752Arg) rs794729098
NM_001005242.3(PKP2):c.2377del (p.Ser793fs) rs727504432
NM_001005242.3(PKP2):c.253G>T (p.Glu85Ter) rs2137953226
NM_001005242.3(PKP2):c.253_256del (p.Glu85fs) rs786204388
NM_001005242.3(PKP2):c.257dup (p.Tyr86Ter) rs1555148271
NM_001005242.3(PKP2):c.270_273delinsTGGTTGTAGATGATT (p.His91delinsGlyCysArgTer)
NM_001005242.3(PKP2):c.337-2A>T rs786204389
NM_001005242.3(PKP2):c.368G>A (p.Trp123Ter) rs760576804
NM_001005242.3(PKP2):c.369G>A (p.Trp123Ter) rs774663443
NM_001005242.3(PKP2):c.397C>T (p.Gln133Ter) rs794729132
NM_001005242.3(PKP2):c.451del (p.Ser151fs)
NM_001005242.3(PKP2):c.623del (p.Thr208fs) rs794729122
NM_001005242.3(PKP2):c.795_811dup (p.Val271fs) rs1555148090
NM_001005242.3(PKP2):c.963del (p.Gly322fs)
NM_001005242.3(PKP2):c.964_977del (p.Gly322fs)
NM_001005242.3(PKP2):c.971_972insT (p.Ala325fs)
NM_001010874.5(TECRL):c.137dup (p.Arg47fs)
NM_001010874.5(TECRL):c.202C>T (p.Gln68Ter)
NM_001010874.5(TECRL):c.206del (p.Thr69fs)
NM_001010874.5(TECRL):c.438del (p.Leu148fs)
NM_001010874.5(TECRL):c.586C>T (p.Arg196Ter)
NM_001010874.5(TECRL):c.616A>T (p.Lys206Ter)
NM_001010874.5(TECRL):c.675G>A (p.Trp225Ter)
NM_001010874.5(TECRL):c.736G>T (p.Gly246Ter)
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) rs199476315
NM_001035.3(RYR2):c.1069G>A (p.Gly357Ser) rs1401116572
NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln) rs794728721
NM_001035.3(RYR2):c.13489C>T (p.Arg4497Cys) rs121918600
NM_001035.3(RYR2):c.14311G>A (p.Val4771Ile) rs794728804
NM_001035.3(RYR2):c.506G>A (p.Arg169Gln) rs397516539
NM_001035.3(RYR2):c.527G>A (p.Arg176Gln) rs794728708
NM_001035.3(RYR2):c.6737C>T (p.Ser2246Leu) rs121918597
NM_001077653.2(TBX20):c.390dup (p.Pro131fs)
NM_001079802.2(FKTN):c.1106del (p.Phe369fs) rs750176716
NM_001079802.2(FKTN):c.1167del (p.Lys389fs) rs398123555
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs) rs398123555
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_001079802.2(FKTN):c.756T>A (p.Tyr252Ter) rs1564301594
NM_001079802.2(FKTN):c.786C>A (p.Tyr262Ter)
NM_001114753.3(ENG):c.-127C>T rs1060501408
NM_001114753.3(ENG):c.1002_1003delinsCT (p.Gln335Ter)
NM_001114753.3(ENG):c.1003C>T (p.Gln335Ter)
NM_001114753.3(ENG):c.1042_1054del (p.Asp348fs)
NM_001114753.3(ENG):c.1071_1080dup (p.Thr361fs)
NM_001114753.3(ENG):c.1080_1083del (p.Thr361fs) rs863223540
NM_001114753.3(ENG):c.1084_1085del (p.Lys362fs) rs1554810051
NM_001114753.3(ENG):c.1088G>A (p.Cys363Tyr)
NM_001114753.3(ENG):c.1088dup (p.Cys363fs)
NM_001114753.3(ENG):c.1099_1102del (p.Asp366_Ala367insTer)
NM_001114753.3(ENG):c.1104del (p.Met368fs)
NM_001114753.3(ENG):c.1121_1124del (p.Lys374fs) rs1064793734
NM_001114753.3(ENG):c.1122_1125del (p.Lys374fs)
NM_001114753.3(ENG):c.1139dup (p.Leu380fs)
NM_001114753.3(ENG):c.1146C>A (p.Cys382Ter)
NM_001114753.3(ENG):c.1166_1168del (p.Phe389del) rs1588577016
NM_001114753.3(ENG):c.1169G>A (p.Trp390Ter) rs1564453619
NM_001114753.3(ENG):c.1170G>A (p.Trp390Ter)
NM_001114753.3(ENG):c.1176del (p.Ser393fs)
NM_001114753.3(ENG):c.1181dup (p.Cys394fs)
NM_001114753.3(ENG):c.1195del (p.Arg399fs) rs1131691444
NM_001114753.3(ENG):c.1205_1208dup (p.Phe403fs)
NM_001114753.3(ENG):c.121G>T (p.Glu41Ter)
NM_001114753.3(ENG):c.1238del (p.Gly413fs) rs1830432717
NM_001114753.3(ENG):c.1243C>T (p.Gln415Ter) rs1343053876
NM_001114753.3(ENG):c.1268del (p.Asn423fs) rs1564453538
NM_001114753.3(ENG):c.1273-2A>G rs373842615
NM_001114753.3(ENG):c.1292C>A (p.Ser431Ter) rs761353511
NM_001114753.3(ENG):c.1297dup (p.Ser433fs)
NM_001114753.3(ENG):c.1301C>G (p.Ser434Ter)
NM_001114753.3(ENG):c.1311+1G>C
NM_001114753.3(ENG):c.1311+2T>A
NM_001114753.3(ENG):c.1311+2T>G
NM_001114753.3(ENG):c.1311G>A (p.Arg437=) rs1554809448
NM_001114753.3(ENG):c.1311G>C (p.Arg437=) rs1554809448
NM_001114753.3(ENG):c.1312-1G>C rs2131877148
NM_001114753.3(ENG):c.1312A>T (p.Lys438Ter) rs863223536
NM_001114753.3(ENG):c.1326C>A (p.Cys442Ter) rs1554809361
NM_001114753.3(ENG):c.1346_1347del (p.Ser449fs) rs1564453019
NM_001114753.3(ENG):c.1411C>T (p.Gln471Ter) rs1830395639
NM_001114753.3(ENG):c.1426C>T (p.Gln476Ter) rs965119099
NM_001114753.3(ENG):c.1428+1G>A rs863223542
NM_001114753.3(ENG):c.1428+2T>C rs863223543
NM_001114753.3(ENG):c.1434_1435del (p.Arg478fs) rs1564452747
NM_001114753.3(ENG):c.1440_1449del (p.Val483fs)
NM_001114753.3(ENG):c.145G>T (p.Val49Phe) rs1252348200
NM_001114753.3(ENG):c.1465C>T (p.Gln489Ter) rs1057521648
NM_001114753.3(ENG):c.1465_1466del (p.Gln489fs)
NM_001114753.3(ENG):c.1470dup (p.Asp491fs) rs1830385077
NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs) rs1830384910
NM_001114753.3(ENG):c.1488_1498delinsATTGGGCCTT (p.Asp496fs)
NM_001114753.3(ENG):c.1494del (p.Pro499fs)
NM_001114753.3(ENG):c.1509_1510insCCAC (p.Val504fs)
NM_001114753.3(ENG):c.1509del (p.Val504fs) rs1564452685
NM_001114753.3(ENG):c.1513G>T (p.Glu505Ter) rs1830383454
NM_001114753.3(ENG):c.1541del (p.Gly514fs) rs1554809268
NM_001114753.3(ENG):c.1554_1555del (p.Leu519fs) rs886041325
NM_001114753.3(ENG):c.1586G>A (p.Arg529His) rs863223538
NM_001114753.3(ENG):c.159C>A (p.Cys53Ter) rs148475405
NM_001114753.3(ENG):c.1613_1614del (p.Thr538fs)
NM_001114753.3(ENG):c.1626dup (p.Lys543fs) rs1830377451
NM_001114753.3(ENG):c.1639_1645dup (p.Cys549fs)
NM_001114753.3(ENG):c.1657del (p.Leu553fs) rs1064794218
NM_001114753.3(ENG):c.1682_1686+15del
NM_001114753.3(ENG):c.1684C>T (p.Gln562Ter) rs1588574749
NM_001114753.3(ENG):c.1686+1G>A rs1554809228
NM_001114753.3(ENG):c.1687G>T (p.Glu563Ter) rs2131873923
NM_001114753.3(ENG):c.1698del (p.Thr567fs) rs1830345215
NM_001114753.3(ENG):c.1715T>A (p.Leu572Ter) rs863223539
NM_001114753.3(ENG):c.1A>G (p.Met1Val) rs1060501418
NM_001114753.3(ENG):c.205del (p.Leu69fs)
NM_001114753.3(ENG):c.219+1G>A rs1554812253
NM_001114753.3(ENG):c.219+5G>A rs1554812252
NM_001114753.3(ENG):c.224del (p.Pro75fs) rs1554810932
NM_001114753.3(ENG):c.229C>T (p.Gln77Ter) rs1588585997
NM_001114753.3(ENG):c.235G>T (p.Glu79Ter) rs763992842
NM_001114753.3(ENG):c.239del (p.Leu80fs)
NM_001114753.3(ENG):c.23T>C (p.Leu8Pro) rs1564466414
NM_001114753.3(ENG):c.247C>T (p.Gln83Ter) rs863223532
NM_001114753.3(ENG):c.258del (p.Lys86fs)
NM_001114753.3(ENG):c.263del (p.Asn88fs)
NM_001114753.3(ENG):c.272G>A (p.Trp91Ter)
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter) rs886039506
NM_001114753.3(ENG):c.277dup (p.Arg93fs) rs1830717066
NM_001114753.3(ENG):c.2T>C (p.Met1Thr) rs267606783
NM_001114753.3(ENG):c.313_314del (p.Val105fs)
NM_001114753.3(ENG):c.360+1G>A rs886039505
NM_001114753.3(ENG):c.360+1G>C rs886039505
NM_001114753.3(ENG):c.360+1G>T rs886039505
NM_001114753.3(ENG):c.360+2dup
NM_001114753.3(ENG):c.360+5G>C rs1060501417
NM_001114753.3(ENG):c.361-2A>G
NM_001114753.3(ENG):c.361-2A>T
NM_001114753.3(ENG):c.391_392dup (p.Gly132fs)
NM_001114753.3(ENG):c.3G>T (p.Met1Ile)
NM_001114753.3(ENG):c.439_440insAAGC (p.Leu147fs)
NM_001114753.3(ENG):c.445dup (p.Trp149fs)
NM_001114753.3(ENG):c.446G>A (p.Trp149Ter) rs863223534
NM_001114753.3(ENG):c.447G>A (p.Trp149Ter)
NM_001114753.3(ENG):c.447G>C (p.Trp149Cys) rs878853657
NM_001114753.3(ENG):c.451_470delinsTCTGCTG (p.Ala151fs)
NM_001114753.3(ENG):c.457_458del (p.Arg153fs) rs2131890509
NM_001114753.3(ENG):c.457_458dup (p.Pro155fs)
NM_001114753.3(ENG):c.457dup (p.Arg153fs)
NM_001114753.3(ENG):c.496dup (p.Gln166fs) rs1830620247
NM_001114753.3(ENG):c.511C>T (p.Arg171Ter) rs1554810490
NM_001114753.3(ENG):c.523+1G>C rs113930974
NM_001114753.3(ENG):c.523G>A (p.Ala175Thr)
NM_001114753.3(ENG):c.523G>C (p.Ala175Pro)
NM_001114753.3(ENG):c.524-1G>T
NM_001114753.3(ENG):c.558del (p.Ser187fs) rs2131889490
NM_001114753.3(ENG):c.562C>T (p.Gln188Ter) rs863223537
NM_001114753.3(ENG):c.581T>C (p.Leu194Pro) rs2131889364
NM_001114753.3(ENG):c.581_582del (p.Leu194fs)
NM_001114753.3(ENG):c.582_583insCATG (p.Glu195fs)
NM_001114753.3(ENG):c.587G>A (p.Trp196Ter) rs1588582870
NM_001114753.3(ENG):c.595dup (p.Arg199fs)
NM_001114753.3(ENG):c.617del (p.Gly206fs) rs1830599423
NM_001114753.3(ENG):c.619del (p.Cys207fs)
NM_001114753.3(ENG):c.626T>A (p.Leu209Ter) rs1243079862
NM_001114753.3(ENG):c.635_654del (p.Val212fs)
NM_001114753.3(ENG):c.63del (p.Thr22fs)
NM_001114753.3(ENG):c.640_643del (p.Gly214fs) rs864622666
NM_001114753.3(ENG):c.647del (p.Lys216fs)
NM_001114753.3(ENG):c.67+1G>A rs1554813783
NM_001114753.3(ENG):c.674del (p.Pro225fs) rs1830596596
NM_001114753.3(ENG):c.674dup (p.His227fs)
NM_001114753.3(ENG):c.68-1G>A rs878853659
NM_001114753.3(ENG):c.689+1G>T
NM_001114753.3(ENG):c.690-1G>A rs1554810272
NM_001114753.3(ENG):c.700dup (p.Val234fs)
NM_001114753.3(ENG):c.701_705dup (p.Val236Ter)
NM_001114753.3(ENG):c.715dup (p.Glu239fs) rs1554810257
NM_001114753.3(ENG):c.721_725del (p.Ser241fs) rs1064794219
NM_001114753.3(ENG):c.740del (p.Leu247fs)
NM_001114753.3(ENG):c.743del (p.Asp248fs) rs1588581961
NM_001114753.3(ENG):c.766_767delinsA (p.Pro256fs)
NM_001114753.3(ENG):c.767_786del (p.Pro256fs) rs2131887701
NM_001114753.3(ENG):c.771del (p.Tyr258fs) rs1588581902
NM_001114753.3(ENG):c.771dup (p.Tyr258fs) rs1588581902
NM_001114753.3(ENG):c.772del (p.Tyr258fs) rs1830580093
NM_001114753.3(ENG):c.776del (p.Val259fs) rs1588581880
NM_001114753.3(ENG):c.815G>A (p.Trp272Ter) rs1588581785
NM_001114753.3(ENG):c.816G>A (p.Trp272Ter) rs886041326
NM_001114753.3(ENG):c.817-1G>C rs1564455715
NM_001114753.3(ENG):c.822del (p.Gly275fs)
NM_001114753.3(ENG):c.828del (p.Glu276fs)
NM_001114753.3(ENG):c.841del (p.Ile281fs)
NM_001114753.3(ENG):c.878del (p.Pro293fs)
NM_001114753.3(ENG):c.895del (p.Leu299fs) rs1064795636
NM_001114753.3(ENG):c.904dup (p.Glu302fs) rs1554810177
NM_001114753.3(ENG):c.910del (p.Arg304fs)
NM_001114753.3(ENG):c.916del (p.Leu306fs)
NM_001114753.3(ENG):c.917_918del (p.Leu306fs)
NM_001114753.3(ENG):c.919_920del (p.Asn307fs)
NM_001114753.3(ENG):c.923C>A (p.Ala308Asp) rs1482440395
NM_001114753.3(ENG):c.990C>A (p.Cys330Ter)
NM_001114753.3(ENG):c.991+1G>C
NM_001114753.3(ENG):c.991+4A>G rs2131886797
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410
NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp) rs796734066
NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser) rs267607002
NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu) rs267607003
NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys) rs397516607
NM_001148.6(ANK2):c.11760_11761delinsTT (p.Gln3921Ter)
NM_001148.6(ANK2):c.2944C>T (p.Arg982Ter) rs1588354762
NM_001148.6(ANK2):c.3281dup (p.Val1095fs)
NM_001159699.2(FHL1):c.288del (p.Phe96fs) rs2148373432
NM_001159699.2(FHL1):c.344_345del (p.Pro115fs)
NM_001159699.2(FHL1):c.516dup (p.Lys173fs)
NM_001232.4(CASQ2):c.1028G>A (p.Trp343Ter)
NM_001232.4(CASQ2):c.261dup (p.Ala88fs)
NM_001232.4(CASQ2):c.546del (p.Phe182fs) rs763955301
NM_001232.4(CASQ2):c.715G>T (p.Glu239Ter) rs1647617368
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.107889del (p.Lys35963fs) rs281864930
NM_001267550.2(TTN):c.13127dup (p.Asp4376fs) rs2082227467
NM_001267550.2(TTN):c.49648+1G>T
NM_001267550.2(TTN):c.51913_51916del (p.Lys17305fs) rs747513278
NM_001267550.2(TTN):c.52307_52310dup (p.Glu17437delinsAspTer) rs794729323
NM_001267550.2(TTN):c.52924_52930dup (p.Val17644fs) rs2055292474
NM_001267550.2(TTN):c.53206C>T (p.Arg17736Ter) rs571702144
NM_001267550.2(TTN):c.54112del (p.Glu18038fs) rs794729325
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter) rs72646831
NM_001267550.2(TTN):c.58117dup (p.Cys19373fs)
NM_001267550.2(TTN):c.58581G>A (p.Trp19527Ter) rs2154186640
NM_001267550.2(TTN):c.58870C>T (p.Arg19624Ter) rs1553649171
NM_001267550.2(TTN):c.59436del (p.Val19813fs)
NM_001267550.2(TTN):c.61495C>T (p.Arg20499Ter) rs869312112
NM_001267550.2(TTN):c.62217T>A (p.Tyr20739Ter) rs727503586
NM_001267550.2(TTN):c.66632dup (p.Asn22211fs)
NM_001267550.2(TTN):c.67348C>T (p.Gln22450Ter) rs1403485272
NM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter) rs371678190
NM_001267550.2(TTN):c.70978C>T (p.Arg23660Ter) rs1553612386
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.72826dup (p.Thr24276fs) rs971618751
NM_001267550.2(TTN):c.73845del (p.Glu24615fs) rs397517696
NM_001267550.2(TTN):c.78340_78349del (p.Tyr26114fs)
NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter) rs869025545
NM_001267550.2(TTN):c.81037C>T (p.Arg27013Ter) rs869038795
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter) rs557312035
NM_001267550.2(TTN):c.82164C>G (p.Tyr27388Ter)
NM_001267550.2(TTN):c.82598del (p.Gly27533fs)
NM_001267550.2(TTN):c.86076dup (p.Ser28693fs) rs1285329277
NM_001267550.2(TTN):c.86116C>T (p.Arg28706Ter) rs794729384
NM_001267550.2(TTN):c.87751C>T (p.Arg29251Ter) rs794729299
NM_001267550.2(TTN):c.89900_89903del (p.Asn29967fs) rs869312081
NM_001267550.2(TTN):c.90085del (p.Glu30029fs)
NM_001267550.2(TTN):c.90587del (p.Lys30196fs) rs397517749
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter) rs72648250
NM_001267550.2(TTN):c.93897del (p.Phe31299fs) rs397517758
NM_001267550.2(TTN):c.94103_94107del (p.Ile31368fs) rs769488730
NM_001267550.2(TTN):c.95341C>T (p.Arg31781Ter) rs780414947
NM_001267550.2(TTN):c.98319T>G (p.Tyr32773Ter)
NM_001267550.2(TTN):c.98994del (p.Lys32998fs) rs727504535
NM_001267550.2(TTN):c.99063del (p.Lys33021fs) rs1445687820
NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn) rs121964855
NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys) rs727503513
NM_001276345.2(TNNT2):c.311G>A (p.Arg104His) rs397516457
NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu) rs397516457
NM_001276345.2(TNNT2):c.508GAG[3] (p.Glu173del) rs397516470
NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp) rs727503512
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln) rs397516471
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del) rs45578238
NM_001365276.2(TNXB):c.10004dup (p.Asn3335fs) rs779059111
NM_001365276.2(TNXB):c.2929del (p.Leu977fs)
NM_001365276.2(TNXB):c.3288del (p.Gln1095_Tyr1096insTer) rs1779660599
NM_001365276.2(TNXB):c.3290_3291del (p.Lys1097fs) rs764070148
NM_001365276.2(TNXB):c.3942dup (p.Thr1315fs) rs2127254498
NM_001365276.2(TNXB):c.4778_4779del (p.Val1593fs)
NM_001365276.2(TNXB):c.8516_8517del (p.Pro2839fs)
NM_001367624.2(ZNF469):c.2193del (p.Thr732fs)
NM_001367624.2(ZNF469):c.4882_4883del (p.Thr1628fs)
NM_001367624.2(ZNF469):c.6444del (p.Gln2149fs) rs886044697
NM_001367624.2(ZNF469):c.6445C>T (p.Gln2149Ter)
NM_001368067.1(LDB3):c.494C>T (p.Ala165Val) rs121908334
NM_001371904.1(APOA5):c.42dup (p.Leu15fs)
NM_001378454.1(ALMS1):c.10558_10561del (p.Asp3520fs) rs2104104189
NM_001378454.1(ALMS1):c.10619_10622del (p.Thr3540fs) rs2104104427
NM_001378454.1(ALMS1):c.10787_10788del (p.Val3596fs) rs1218465638
NM_001378454.1(ALMS1):c.11104C>T (p.Arg3702Ter) rs747747269
NM_001378454.1(ALMS1):c.11310_11313del (p.Asp3770fs) rs780252175
NM_001378454.1(ALMS1):c.11615_11616del (p.Ser3872fs) rs1476205467
NM_001378454.1(ALMS1):c.11688del (p.Asn3896fs)
NM_001378454.1(ALMS1):c.12313C>T (p.Gln4105Ter)
NM_001378454.1(ALMS1):c.149del (p.Ala50fs) rs2104058704
NM_001378454.1(ALMS1):c.1557del (p.Gln519fs) rs1553403262
NM_001378454.1(ALMS1):c.2038C>T (p.Arg680Ter) rs115444326
NM_001378454.1(ALMS1):c.2221dup (p.Thr741fs) rs769291842
NM_001378454.1(ALMS1):c.2752dup (p.Ser918fs) rs1230351650
NM_001378454.1(ALMS1):c.2929_2930dup (p.Ser978fs)
NM_001378454.1(ALMS1):c.3525_3526del (p.Gly1176fs)
NM_001378454.1(ALMS1):c.4143C>A (p.Tyr1381Ter)
NM_001378454.1(ALMS1):c.5169dup (p.Gln1724fs) rs748709116
NM_001378454.1(ALMS1):c.5198_5199del (p.Gln1733fs)
NM_001378454.1(ALMS1):c.5280del (p.His1761fs) rs2103785835
NM_001378454.1(ALMS1):c.6165del (p.Asn2055fs)
NM_001378454.1(ALMS1):c.6302C>A (p.Ser2101Ter) rs28730854
NM_001378454.1(ALMS1):c.7373_7376del (p.Asp2458fs) rs1370417967
NM_001378454.1(ALMS1):c.8151_8152del (p.Ser2718fs)
NM_001378454.1(ALMS1):c.8374del (p.Arg2792fs)
NM_001378454.1(ALMS1):c.8391dup (p.Leu2798fs) rs1553409715
NM_001378454.1(ALMS1):c.8650del (p.Gln2884fs)
NM_001378454.1(ALMS1):c.8674_8678del (p.Lys2892fs)
NM_001458.5(FLNC):c.1069C>T (p.Gln357Ter) rs2128934390
NM_001458.5(FLNC):c.1274del (p.Glu425fs)
NM_001458.5(FLNC):c.1497del (p.Phe500fs)
NM_001458.5(FLNC):c.1749del (p.Gly584fs)
NM_001458.5(FLNC):c.1756del (p.Val586fs)
NM_001458.5(FLNC):c.1837C>T (p.Gln613Ter)
NM_001458.5(FLNC):c.1948C>T (p.Arg650Ter) rs770606675
NM_001458.5(FLNC):c.1994_1995delinsAA (p.Cys665Ter)
NM_001458.5(FLNC):c.2499C>A (p.Tyr833Ter) rs1389742580
NM_001458.5(FLNC):c.2809C>T (p.Gln937Ter)
NM_001458.5(FLNC):c.3014C>A (p.Ser1005Ter)
NM_001458.5(FLNC):c.302_306delinsTGT (p.Ser101fs)
NM_001458.5(FLNC):c.3123_3126del (p.Tyr1042fs)
NM_001458.5(FLNC):c.338del (p.Lys113fs)
NM_001458.5(FLNC):c.3695_3698del (p.Gly1232fs) rs2128936511
NM_001458.5(FLNC):c.3855del (p.Asn1286fs)
NM_001458.5(FLNC):c.3901_3904del (p.Asp1301fs)
NM_001458.5(FLNC):c.3934_3937dup (p.Arg1313fs) rs1554399513
NM_001458.5(FLNC):c.3937C>T (p.Arg1313Ter) rs766330686
NM_001458.5(FLNC):c.4021C>T (p.Arg1341Ter) rs1562998062
NM_001458.5(FLNC):c.4059_4060del (p.Arg1354fs)
NM_001458.5(FLNC):c.4060C>T (p.Arg1354Ter) rs138193236
NM_001458.5(FLNC):c.4108C>T (p.Arg1370Ter) rs1342121466
NM_001458.5(FLNC):c.4219_4220delinsA (p.Val1407fs)
NM_001458.5(FLNC):c.4621A>T (p.Lys1541Ter) rs1562999451
NM_001458.5(FLNC):c.488_491dup (p.Leu165fs)
NM_001458.5(FLNC):c.4926_4927insACGTCACA (p.Val1643fs) rs1402879259
NM_001458.5(FLNC):c.4946del (p.Gly1649fs) rs1282619643
NM_001458.5(FLNC):c.4969C>T (p.Arg1657Ter) rs1563000044
NM_001458.5(FLNC):c.531del (p.Ile178fs) rs2128933676
NM_001458.5(FLNC):c.5417C>A (p.Ser1806Ter)
NM_001458.5(FLNC):c.5559T>G (p.Tyr1853Ter)
NM_001458.5(FLNC):c.555G>A (p.Trp185Ter) rs2128933685
NM_001458.5(FLNC):c.5778C>G (p.Tyr1926Ter)
NM_001458.5(FLNC):c.5926C>T (p.Gln1976Ter)
NM_001458.5(FLNC):c.600dup (p.Gly201fs)
NM_001458.5(FLNC):c.6190dup (p.Val2064fs) rs1808888920
NM_001458.5(FLNC):c.6279del (p.Asp2093fs)
NM_001458.5(FLNC):c.6976C>T (p.Arg2326Ter) rs748416758
NM_001458.5(FLNC):c.711del (p.Glu238fs)
NM_001458.5(FLNC):c.7235_7236del (p.Thr2412fs)
NM_001458.5(FLNC):c.7327del (p.Arg2443fs)
NM_001458.5(FLNC):c.7371del (p.Glu2458fs) rs1554401780
NM_001458.5(FLNC):c.7374del (p.Glu2458fs)
NM_001458.5(FLNC):c.778del (p.Ala260fs)
NM_001458.5(FLNC):c.805C>T (p.Arg269Ter) rs755583250
NM_001458.5(FLNC):c.985_986dup (p.Asn329fs)
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_001927.4(DES):c.735+3A>G rs267607483
NM_001943.4(DSG2):c.1015del rs794728094
NM_001943.5(DSG2):c.136C>T (p.Arg46Trp) rs752522753
NM_001943.5(DSG2):c.1487dup (p.Cys496fs) rs730880347
NM_001943.5(DSG2):c.1826dup (p.Leu610fs) rs1039633976
NM_001943.5(DSG2):c.1970G>A (p.Trp657Ter)
NM_001943.5(DSG2):c.449_450del (p.Leu150fs)
NM_001943.5(DSG2):c.464_465insT (p.Glu156fs) rs794728091
NM_001943.5(DSG2):c.621_626del (p.Tyr207_Pro209delinsTer) rs1555671331
NM_001943.5(DSG2):c.630del (p.Phe211fs)
NM_002294.3(LAMP2):c.1075C>T (p.Gln359Ter) rs1057517940
NM_002294.3(LAMP2):c.109G>T (p.Glu37Ter)
NM_002294.3(LAMP2):c.371_375del (p.Thr124fs)
NM_002294.3(LAMP2):c.64+4delinsGT rs1556123906
NM_002294.3(LAMP2):c.696T>A (p.Cys232Ter) rs1556101523
NM_002294.3(LAMP2):c.864+3_864+6del rs397516751
NM_002294.3(LAMP2):c.911_914del (p.Tyr304fs)
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile) rs104894858
NM_002317.7(LOX):c.732_735del (p.Cys244fs) rs779512296
NM_002317.7(LOX):c.841C>T (p.Arg281Ter)
NM_002474.3(MYH11):c.3791T>C (p.Leu1264Pro) rs201831933
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del) rs397516784
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala) rs397507501
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.5(PTPN11):c.1402A>C (p.Thr468Pro) rs397507537
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His) rs397507540
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro) rs397507548
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.5(PTPN11):c.1530G>C (p.Gln510His) rs397507550
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala) rs397507509
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) rs397507510
NM_002834.5(PTPN11):c.181G>C (p.Asp61His) rs397507510
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.205G>C (p.Glu69Gln) rs397507511
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002834.5(PTPN11):c.228G>C (p.Glu76Asp) rs397507514
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg) rs397507523
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.854T>A (p.Phe285Tyr) rs121918463
NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr) rs121918455
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.4(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_002890.3(RASA1):c.1926dup (p.Val643fs) rs2112485022
NM_002890.3(RASA1):c.1963_1967del (p.Glu655fs)
NM_002890.3(RASA1):c.2131C>T (p.Arg711Ter) rs863223718
NM_002890.3(RASA1):c.2291dup (p.Leu765fs)
NM_002890.3(RASA1):c.2552dup (p.Leu852fs)
NM_003242.6(TGFBR2):c.1136A>T (p.Asp379Val) rs886038847
NM_003242.6(TGFBR2):c.1261A>G (p.Thr421Ala) rs886038787
NM_003242.6(TGFBR2):c.1378C>T (p.Arg460Cys) rs104893811
NM_003242.6(TGFBR2):c.831G>T (p.Lys277Asn) rs886038794
NM_003673.4(TCAP):c.110_110+1del rs786205076
NM_004006.3(DMD):c.2555G>A (p.Trp852Ter) rs1064793964
NM_004006.3(DMD):c.31+1G>C rs398123923
NM_004006.3(DMD):c.31+1G>T rs398123923
NM_004006.3(DMD):c.313A>T (p.Lys105Ter) rs2148850223
NM_004006.3(DMD):c.3220G>T (p.Glu1074Ter) rs1569563751
NM_004006.3(DMD):c.357+1G>T
NM_004006.3(DMD):c.4729C>T (p.Arg1577Ter) rs863224999
NM_004006.3(DMD):c.5758C>T (p.Gln1920Ter) rs1057520764
NM_004006.3(DMD):c.6306del (p.Val2103fs)
NM_004006.3(DMD):c.6544C>T (p.Gln2182Ter) rs1557038061
NM_004006.3(DMD):c.7159C>T (p.Gln2387Ter) rs1556930579
NM_004006.3(DMD):c.777del (p.Lys259_Val260insTer)
NM_004006.3(DMD):c.8416C>T (p.Gln2806Ter) rs2147076500
NM_004006.3(DMD):c.859G>T (p.Glu287Ter)
NM_004006.3(DMD):c.9100C>T (p.Arg3034Ter) rs1569530432
NM_004281.4(BAG3):c.1034_1038del (p.Glu345fs) rs1554877731
NM_004281.4(BAG3):c.1257del (p.Pro420fs)
NM_004281.4(BAG3):c.1267_1276del (p.Leu423fs) rs794728981
NM_004281.4(BAG3):c.1276del (p.Glu426fs)
NM_004281.4(BAG3):c.1292dup (p.Val432fs) rs886039182
NM_004281.4(BAG3):c.1363G>A (p.Glu455Lys) rs397516881
NM_004281.4(BAG3):c.138_159del (p.Thr47fs)
NM_004281.4(BAG3):c.223del (p.Arg75fs)
NM_004281.4(BAG3):c.262C>T (p.Gln88Ter) rs1554877001
NM_004281.4(BAG3):c.268C>T (p.Arg90Ter) rs1057517945
NM_004281.4(BAG3):c.29_35del (p.Met10fs)
NM_004281.4(BAG3):c.394C>T (p.Gln132Ter)
NM_004281.4(BAG3):c.403C>T (p.Gln135Ter) rs1847126002
NM_004281.4(BAG3):c.481C>T (p.Gln161Ter) rs886039044
NM_004281.4(BAG3):c.607dup (p.Arg203fs) rs1554877224
NM_004281.4(BAG3):c.626C>T (p.Pro209Leu) rs121918312
NM_004281.4(BAG3):c.699C>A (p.Tyr233Ter) rs876661342
NM_004281.4(BAG3):c.72dup (p.Gly25fs) rs727502897
NM_004281.4(BAG3):c.764G>A (p.Trp255Ter)
NM_004281.4(BAG3):c.765G>A (p.Trp255Ter) rs1564774668
NM_004281.4(BAG3):c.925C>T (p.Arg309Ter) rs869248137
NM_004387.4(NKX2-5):c.212del (p.Ala71fs) rs2113906234
NM_004387.4(NKX2-5):c.491C>A (p.Ser164Ter) rs1554093487
NM_004415.2(DSP):c.5671_*835+957del4738insAGAACAGTCTT
NM_004415.2:c.6060_6061insALU
NM_004415.4(DSP):c.1060_1061del (p.Leu354fs) rs1249913357
NM_004415.4(DSP):c.1087C>T (p.Gln363Ter) rs778856526
NM_004415.4(DSP):c.1162del (p.Thr388fs) rs1554106742
NM_004415.4(DSP):c.1228_1229insT (p.Pro410fs)
NM_004415.4(DSP):c.1232dup (p.Gln412fs)
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter) rs397516915
NM_004415.4(DSP):c.1282dup (p.Ile428fs) rs1561687796
NM_004415.4(DSP):c.1587del (p.Tyr530fs)
NM_004415.4(DSP):c.1751del (p.Glu584fs) rs727505077
NM_004415.4(DSP):c.1762C>T (p.Gln588Ter) rs1581805658
NM_004415.4(DSP):c.1857C>A (p.Tyr619Ter) rs1554107097
NM_004415.4(DSP):c.1873C>T (p.Gln625Ter) rs876657638
NM_004415.4(DSP):c.1938C>A (p.Cys646Ter)
NM_004415.4(DSP):c.2351T>A (p.Leu784Ter) rs2113684096
NM_004415.4(DSP):c.250C>T (p.Arg84Ter) rs768521444
NM_004415.4(DSP):c.2547T>A (p.Tyr849Ter) rs1554107624
NM_004415.4(DSP):c.2593_2594dup (p.Asp865fs)
NM_004415.4(DSP):c.2616dup (p.Gln873fs)
NM_004415.4(DSP):c.2637G>A (p.Trp879Ter) rs2113686447
NM_004415.4(DSP):c.2652_2653del (p.Gln884fs)
NM_004415.4(DSP):c.2706_2707del (p.Leu902_Tyr903insTer) rs1759240256
NM_004415.4(DSP):c.2709T>A (p.Tyr903Ter)
NM_004415.4(DSP):c.2780dup (p.Leu927fs)
NM_004415.4(DSP):c.2821C>T (p.Arg941Ter) rs730880082
NM_004415.4(DSP):c.2842del (p.Gln948fs)
NM_004415.4(DSP):c.2980dup (p.Gln994fs) rs1581813564
NM_004415.4(DSP):c.3126_3127delinsT (p.Arg1042fs) rs1561696970
NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter) rs1554108012
NM_004415.4(DSP):c.313C>T (p.Arg105Ter) rs1435125402
NM_004415.4(DSP):c.3195C>G (p.Tyr1065Ter) rs886039178
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter) rs746877365
NM_004415.4(DSP):c.3473T>G (p.Leu1158Ter)
NM_004415.4(DSP):c.3474dup (p.Glu1159fs) rs727503000
NM_004415.4(DSP):c.3517del (p.Arg1173fs)
NM_004415.4(DSP):c.3526del (p.Val1176fs) rs727505271
NM_004415.4(DSP):c.3535C>T (p.Gln1179Ter) rs1759357763
NM_004415.4(DSP):c.3612del (p.Ser1204fs)
NM_004415.4(DSP):c.3630T>A (p.Tyr1210Ter) rs727503001
NM_004415.4(DSP):c.3684del (p.Glu1229fs)
NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs) rs1554108152
NM_004415.4(DSP):c.3784C>T (p.Gln1262Ter) rs2113692628
NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter) rs121912997
NM_004415.4(DSP):c.3909_3921del (p.Glu1304fs)
NM_004415.4(DSP):c.3931C>T (p.Gln1311Ter)
NM_004415.4(DSP):c.4009del (p.Glu1337fs) rs794727381
NM_004415.4(DSP):c.4153_4156del (p.Glu1385fs) rs1759385935
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) rs770873593
NM_004415.4(DSP):c.423-1G>T rs1304410089
NM_004415.4(DSP):c.4235_4237delinsG (p.Leu1412fs) rs1554108280
NM_004415.4(DSP):c.4353_4357del (p.Arg1452fs) rs886039009
NM_004415.4(DSP):c.4372C>T (p.Arg1458Ter) rs28763965
NM_004415.4(DSP):c.4423del (p.Thr1475fs) rs1227662860
NM_004415.4(DSP):c.448C>T (p.Arg150Ter) rs2113659637
NM_004415.4(DSP):c.4578del (p.Asn1526fs)
NM_004415.4(DSP):c.4789G>T (p.Glu1597Ter) rs1259613160
NM_004415.4(DSP):c.478C>T (p.Arg160Ter) rs397516943
NM_004415.4(DSP):c.4822C>T (p.Gln1608Ter) rs1060500610
NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs) rs1554108410
NM_004415.4(DSP):c.5212C>T (p.Arg1738Ter) rs794728124
NM_004415.4(DSP):c.5327_5330del (p.Glu1776fs) rs1394836623
NM_004415.4(DSP):c.5329_5330del (p.Arg1777fs)
NM_004415.4(DSP):c.5402_5424delinsTGA (p.Ser1801fs)
NM_004415.4(DSP):c.5455del (p.Ile1819fs)
NM_004415.4(DSP):c.5488C>T (p.Gln1830Ter)
NM_004415.4(DSP):c.557_558del (p.His186fs)
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs) rs774763657
NM_004415.4(DSP):c.5745dup (p.Lys1916Ter) rs1060500607
NM_004415.4(DSP):c.5773_5774del (p.Gln1925fs) rs1561701401
NM_004415.4(DSP):c.5829_5832del (p.Arg1943fs)
NM_004415.4(DSP):c.5987del (p.Lys1996fs) rs1759510200
NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs) rs397514040
NM_004415.4(DSP):c.6170del (p.Gly2057fs)
NM_004415.4(DSP):c.6253C>T (p.Gln2085Ter)
NM_004415.4(DSP):c.6318del (p.Val2107fs) rs2113699991
NM_004415.4(DSP):c.6336del (p.Asn2114fs)
NM_004415.4(DSP):c.6466dup (p.Arg2156fs) rs1554108859
NM_004415.4(DSP):c.646dup (p.Gln216fs) rs2113665124
NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter) rs141026028
NM_004415.4(DSP):c.6504_6507del (p.Ser2168fs) rs1561702640
NM_004415.4(DSP):c.6516del (p.Phe2172fs)
NM_004415.4(DSP):c.6553C>T (p.Gln2185Ter)
NM_004415.4(DSP):c.6631C>T (p.Gln2211Ter)
NM_004415.4(DSP):c.699G>A (p.Trp233Ter) rs397516955
NM_004415.4(DSP):c.712dup (p.Ile238fs) rs397516956
NM_004415.4(DSP):c.7570_7573del (p.Thr2524fs) rs1561703922
NM_004415.4(DSP):c.928dup (p.Glu310fs) rs794728137
NM_004415.4(DSP):c.991C>T (p.Gln331Ter) rs121912991
NM_004444.5(EPHB4):c.1236_1237insGCCTCCTTAGCCACGGGGCA (p.Ser413fs)
NM_004444.5(EPHB4):c.2287C>T (p.Arg763Ter) rs1331371272
NM_004444.5(EPHB4):c.2397del (p.Ala800fs)
NM_004444.5(EPHB4):c.616C>T (p.Arg206Ter)
NM_004985.5(KRAS):c.108A>G (p.Ile36Met) rs727503109
NM_005159.5(ACTC1):c.740G>A (p.Gly247Asp) rs1566967399
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005477.3(HCN4):c.1438G>A (p.Gly480Ser) rs121908411
NM_005477.3(HCN4):c.1444G>A (p.Gly482Arg) rs794727637
NM_005633.4(SOS1):c.1132A>G (p.Thr378Ala) rs397517146
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg) rs397517148
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr) rs397517150
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_005633.4(SOS1):c.1655G>C (p.Arg552Thr) rs397517154
NM_005633.4(SOS1):c.1656G>T (p.Arg552Ser) rs267607079
NM_005633.4(SOS1):c.2536G>A (p.Glu846Lys) rs397517159
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu) rs397517172
NM_005633.4(SOS1):c.806T>C (p.Met269Thr) rs137852813
NM_005633.4(SOS1):c.806T>G (p.Met269Arg) rs137852813
NM_006073.4(TRDN):c.292delinsAA (p.Glu98fs)
NM_006073.4(TRDN):c.2T>C (p.Met1Thr)
NM_006073.4(TRDN):c.305G>A (p.Trp102Ter)
NM_006073.4(TRDN):c.532_533del (p.Glu178fs)
NM_006073.4(TRDN):c.53_56del (p.Asp18fs) rs768049331
NM_006073.4(TRDN):c.57_58insTTTT (p.Lys20delinsPheTer)
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) rs672601334
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006912.6(RIT1):c.246T>A (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_014908.4(DOLK):c.2T>C (p.Met1Thr) rs587777137
NM_015627.3(LDLRAP1):c.24dup (p.Arg9fs)
NM_015627.3(LDLRAP1):c.344+1G>A rs545662810
NM_015627.3(LDLRAP1):c.604delinsCC (p.Ser202fs)
NM_016203.4(PRKAG2):c.1589A>G (p.His530Arg) rs267606977
NM_016203.4(PRKAG2):c.1591C>G (p.Arg531Gly) rs121908990
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_020778.5(ALPK3):c.1055dup (p.Pro352_Asp353insTer)
NM_020778.5(ALPK3):c.1072C>T (p.Gln358Ter)
NM_020778.5(ALPK3):c.1417del (p.Gln473fs) rs769139957
NM_020778.5(ALPK3):c.1936C>T (p.Gln646Ter)
NM_020778.5(ALPK3):c.2043_2044delinsCT (p.Gln681_Glu682delinsHisTer) rs2141567430
NM_020778.5(ALPK3):c.2237del (p.Gly746fs) rs1596155145
NM_020778.5(ALPK3):c.2434C>T (p.Gln812Ter)
NM_020778.5(ALPK3):c.2455C>T (p.Arg819Ter)
NM_020778.5(ALPK3):c.3580dup (p.Arg1194fs) rs777315336
NM_020778.5(ALPK3):c.3720del (p.Ser1241fs)
NM_020778.5(ALPK3):c.3772C>T (p.Gln1258Ter)
NM_020778.5(ALPK3):c.412C>T (p.Gln138Ter) rs200889953
NM_020778.5(ALPK3):c.423del rs1555434555
NM_020778.5(ALPK3):c.4391del (p.Asn1464fs) rs1450218521
NM_020778.5(ALPK3):c.4688G>A (p.Trp1563Ter) rs1555436118
NM_020778.5(ALPK3):c.61_62delinsT (p.Gly21fs)
NM_020778.5(ALPK3):c.62del (p.Gly21fs) rs1250475254
NM_020778.5(ALPK3):c.634del (p.Thr212fs) rs2141556375
NM_022436.3(ABCG5):c.136del (p.Ser46fs)
NM_022436.3(ABCG5):c.547C>T (p.Arg183Ter)
NM_022436.3(ABCG5):c.575del (p.Gly192fs) rs762031825
NM_024301.5(FKRP):c.1154C>A (p.Ser385Ter) rs104894680
NM_024301.5(FKRP):c.1187dup (p.Ala397fs) rs772020161
NM_024301.5(FKRP):c.158_162dup (p.Glu55fs) rs1290836394
NM_024301.5(FKRP):c.928G>T (p.Glu310Ter) rs765885747
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu) rs63750743
NM_024422.6(DSC2):c.1777G>T (p.Glu593Ter)
NM_024422.6(DSC2):c.1858C>T (p.Gln620Ter) rs1986951516
NM_024422.6(DSC2):c.2186del (p.Pro729fs) rs1598572298
NM_024422.6(DSC2):c.2431G>T (p.Gly811Ter)
NM_024422.6(DSC2):c.2432del (p.Gly811fs)
NM_024422.6(DSC2):c.456_458delinsCG (p.Pro153fs)
NM_024422.6(DSC2):c.571_572dup (p.Asp191fs)
NM_024422.6(DSC2):c.587_597del (p.Tyr196fs)
NM_032578.4(MYPN):c.1105dup (p.Asp369fs)
NM_032578.4(MYPN):c.1273G>T (p.Gly425Ter) rs777033025
NM_032578.4(MYPN):c.1407T>A (p.Tyr469Ter)
NM_032578.4(MYPN):c.1511del (p.Glu504fs)
NM_032578.4(MYPN):c.2709C>G (p.Tyr903Ter)
NM_032578.4(MYPN):c.2986C>T (p.Arg996Ter)
NM_033337.3(CAV3):c.136G>A (p.Ala46Thr) rs116840789
NM_152594.3(SPRED1):c.1045_1046del (p.Arg349fs) rs1566876941
NM_152594.3(SPRED1):c.1149_1152del (p.Gly385fs) rs1595763925
NM_152594.3(SPRED1):c.349C>T (p.Arg117Ter) rs121434312
NM_152594.3(SPRED1):c.790delinsAA (p.Pro264fs)
NM_152594.3(SPRED1):c.973C>T (p.Arg325Ter) rs1057518683
NM_170707.4(LMNA):c.1003del (p.Arg335fs) rs1553265660
NM_170707.4(LMNA):c.1057C>T (p.Gln353Ter) rs267607623
NM_170707.4(LMNA):c.1130G>A (p.Arg377His) rs61672878
NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu) rs61672878
NM_170707.4(LMNA):c.1157+1G>A rs267607590
NM_170707.4(LMNA):c.1157G>C (p.Arg386Thr) rs267607545
NM_170707.4(LMNA):c.1184C>A (p.Ser395Ter) rs267607561
NM_170707.4(LMNA):c.1238del (p.Gly413fs) rs2102890051
NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter) rs267607618
NM_170707.4(LMNA):c.1380+1G>A rs267607552
NM_170707.4(LMNA):c.1409del (p.Lys470fs)
NM_170707.4(LMNA):c.1526dup (p.Thr510fs) rs58013325
NM_170707.4(LMNA):c.1560G>A (p.Trp520Ter) rs794728595
NM_170707.4(LMNA):c.1566C>A (p.Cys522Ter) rs149339264
NM_170707.4(LMNA):c.1576del (p.Leu526fs)
NM_170707.4(LMNA):c.1608+5G>C rs267607539
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys) rs56984562
NM_170707.4(LMNA):c.1961dup (p.Thr655fs) rs863225024
NM_170707.4(LMNA):c.244G>T (p.Glu82Ter)
NM_170707.4(LMNA):c.2T>A (p.Met1Lys)
NM_170707.4(LMNA):c.383dup (p.Ala129fs)
NM_170707.4(LMNA):c.4G>T (p.Glu2Ter) rs1558115754
NM_170707.4(LMNA):c.561dup (p.Leu188fs)
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln) rs267607571
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys) rs61195471
NM_170707.4(LMNA):c.618C>G (p.Phe206Leu) rs267607629
NM_170707.4(LMNA):c.633C>G (p.Tyr211Ter)
NM_170707.4(LMNA):c.679del (p.Val227fs)
NM_170707.4(LMNA):c.700C>T (p.Gln234Ter) rs267607573
NM_170707.4(LMNA):c.711_729delinsCC (p.Glu238fs) rs1572359848
NM_170707.4(LMNA):c.73C>G (p.Arg25Gly) rs58327533
NM_170707.4(LMNA):c.908_909del (p.Ser303fs) rs59684335
NM_170707.4(LMNA):c.913C>T (p.Gln305Ter)
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter) rs267607554
NM_170707.4(LMNA):c.986dup (p.Arg329_Glu330insTer)
NM_181486.4(TBX5):c.709C>T (p.Arg237Trp) rs104894382

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