ClinVar Miner

List of variants reported as likely pathogenic for Cardiovascular phenotype

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ClinVar version:
Total variants: 2166
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HGVS dbSNP gnomAD frequency
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00042
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_005502.4(ABCA1):c.5398A>C (p.Asn1800His) rs146292819 0.00038
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008 0.00032
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_016938.5(EFEMP2):c.409A>T (p.Ser137Cys) rs1306393544 0.00022
NM_000169.3(GLA):c.1088G>A (p.Arg363His) rs111422676 0.00013
NM_000218.3(KCNQ1):c.671C>T (p.Thr224Met) rs199472706 0.00011
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His) rs587778778 0.00011
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro) rs144601090 0.00011
NM_001267550.2(TTN):c.12587C>A (p.Ser4196Ter) rs370912401 0.00010
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu) rs201573863 0.00009
NM_000152.5(GAA):c.1552-3C>G rs375470378 0.00008
NM_001232.4(CASQ2):c.748C>T (p.Arg250Cys) rs151115064 0.00008
NM_022437.3(ABCG8):c.1715T>C (p.Leu572Pro) rs769576789 0.00008
NM_022437.3(ABCG8):c.1974C>G (p.Tyr658Ter) rs137852989 0.00008
NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val) rs199473625 0.00007
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val) rs146200173 0.00007
NM_005502.4(ABCA1):c.4037G>A (p.Gly1346Glu) rs762770081 0.00007
NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys) rs564427867 0.00007
NM_000237.3(LPL):c.292G>A (p.Ala98Thr) rs145657341 0.00006
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys) rs573916965 0.00006
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro) rs104894205 0.00006
NM_022437.3(ABCG8):c.788G>A (p.Arg263Gln) rs137852990 0.00006
NM_032588.4(TRIM63):c.224G>A (p.Cys75Tyr) rs200811483 0.00006
NM_000256.3(MYBPC3):c.1224-80G>A rs1025692267 0.00005
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln) rs727503195 0.00005
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555 0.00005
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His) rs375675796 0.00005
NM_000258.3(MYL3):c.466G>A (p.Val156Met) rs199474707 0.00005
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230 0.00005
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys) rs199473645 0.00004
NM_000237.3(LPL):c.662T>C (p.Ile221Thr) rs118204061 0.00004
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu) rs199473435 0.00004
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) rs397516000 0.00004
NM_000258.3(MYL3):c.460C>T (p.Arg154Cys) rs143852164 0.00004
NM_000335.5(SCN5A):c.4874G>A (p.Arg1625His) rs199473283 0.00004
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) rs368861241 0.00004
NM_000527.5(LDLR):c.1359-5C>G rs531005522 0.00004
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145 0.00004
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=) rs727504509 0.00004
NM_001035.3(RYR2):c.1249C>G (p.Arg417Gly) rs564822776 0.00004
NM_001367624.2(ZNF469):c.10324del (p.Arg3442fs) rs756543273 0.00004
NM_022773.4(LMF1):c.1323del (p.Phe441fs) rs760536168 0.00004
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His) rs371564200 0.00003
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln) rs2856655 0.00003
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys) rs148808089 0.00003
NM_000257.4(MYH7):c.2081G>A (p.Arg694His) rs886039030 0.00003
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) rs2754158 0.00003
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys) rs45611033 0.00003
NM_000257.4(MYH7):c.3134G>A (p.Arg1045His) rs397516178 0.00003
NM_000257.4(MYH7):c.611G>A (p.Arg204His) rs397516260 0.00003
NM_000335.5(SCN5A):c.1127G>A (p.Arg376His) rs199473101 0.00003
NM_000335.5(SCN5A):c.393-1C>T rs759235726 0.00003
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val) rs199473220 0.00003
NM_000527.5(LDLR):c.1061A>T (p.Asp354Val) rs755449669 0.00003
NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln) rs773658037 0.00003
NM_000527.5(LDLR):c.1474G>C (p.Asp492His) rs373646964 0.00003
NM_000527.5(LDLR):c.514G>A (p.Asp172Asn) rs879254554 0.00003
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000 0.00003
NM_001232.4(CASQ2):c.1097T>C (p.Leu366Pro) rs762153545 0.00003
NM_001232.4(CASQ2):c.923C>T (p.Pro308Leu) rs139228801 0.00003
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter) rs727504198 0.00003
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs) rs587780494 0.00003
NM_001267550.2(TTN):c.89197+1G>C rs1131691873 0.00003
NM_001267550.2(TTN):c.9610C>T (p.Arg3204Ter) rs757836789 0.00003
NM_001371904.1(APOA5):c.823C>T (p.Gln275Ter) rs149808404 0.00003
NM_001458.5(FLNC):c.4871C>T (p.Ser1624Leu) rs879255639 0.00003
NM_001943.5(DSG2):c.1592T>G (p.Phe531Cys) rs200484060 0.00003
NM_002834.5(PTPN11):c.1282G>A (p.Val428Met) rs397507536 0.00003
NM_002834.5(PTPN11):c.794G>T (p.Arg265Leu) rs376607329 0.00003
NM_004415.4(DSP):c.7123G>A (p.Gly2375Arg) rs376923069 0.00003
NM_022773.4(LMF1):c.895C>T (p.Gln299Ter) rs554054538 0.00003
NM_000089.4(COL1A2):c.2755G>A (p.Gly919Ser) rs749621872 0.00002
NM_000169.3(GLA):c.868A>C (p.Met290Leu) rs375538532 0.00002
NM_000229.2(LCAT):c.1267C>T (p.Arg423Cys) rs370803551 0.00002
NM_000238.4(KCNH2):c.1128G>A (p.Gln376=) rs770047651 0.00002
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361 0.00002
NM_000257.4(MYH7):c.1727A>G (p.His576Arg) rs727504238 0.00002
NM_000257.4(MYH7):c.2348G>A (p.Arg783His) rs397516142 0.00002
NM_000257.4(MYH7):c.5561C>T (p.Thr1854Met) rs372381770 0.00002
NM_000257.4(MYH7):c.958G>A (p.Val320Met) rs376897125 0.00002
NM_000335.5(SCN5A):c.612-2A>G rs370438420 0.00002
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys) rs185098634 0.00002
NM_000527.5(LDLR):c.409G>A (p.Gly137Ser) rs730882082 0.00002
NM_001035.3(RYR2):c.7375G>A (p.Gly2459Arg) rs1481363942 0.00002
NM_001037.5(SCN1B):c.254G>A (p.Arg85His) rs16969925 0.00002
NM_001134363.3(RBM20):c.1338-1G>T rs1265727354 0.00002
NM_001232.4(CASQ2):c.164A>G (p.Tyr55Cys) rs1436844070 0.00002
NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg) rs375159973 0.00002
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001 0.00002
NM_001267550.2(TTN):c.49346-1G>A rs869312070 0.00002
NM_001267550.2(TTN):c.56572C>T (p.Arg18858Ter) rs745376275 0.00002
NM_001267550.2(TTN):c.89265G>A (p.Trp29755Ter) rs1179247052 0.00002
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) rs397517776 0.00002
NM_001267550.2(TTN):c.99936G>A (p.Trp33312Ter) rs1294718974 0.00002
NM_001371904.1(APOA5):c.913C>T (p.Gln305Ter) rs1403296082 0.00002
NM_001458.5(FLNC):c.4636G>A (p.Gly1546Ser) rs774263134 0.00002
NM_004281.4(BAG3):c.1411G>A (p.Glu471Lys) rs778496291 0.00002
NM_005477.3(HCN4):c.1123C>T (p.Arg375Cys) rs755356387 0.00002
NM_014908.4(DOLK):c.1201_1202del (p.Ser401fs) rs919111760 0.00002
NM_020778.5(ALPK3):c.4130-1G>A rs762110595 0.00002
NM_022437.3(ABCG8):c.1213C>T (p.Arg405Cys) rs199553576 0.00002
NM_170707.4(LMNA):c.290A>C (p.Lys97Thr) rs1060502216 0.00002
NC_000011.10:g.47335872C>T rs398123280 0.00001
NM_000020.3(ACVRL1):c.236G>A (p.Gly79Glu) rs1283365095 0.00001
NM_000039.3(APOA1):c.296T>C (p.Leu99Pro) rs372520221 0.00001
NM_000041.4(APOE):c.127C>T (p.Arg43Cys) rs121918399 0.00001
NM_000089.4(COL1A2):c.298G>A (p.Gly100Ser) rs1410254723 0.00001
NM_000089.4(COL1A2):c.910G>A (p.Gly304Ser) rs1054264002 0.00001
NM_000218.3(KCNQ1):c.1664G>A (p.Arg555His) rs199472800 0.00001
NM_000218.3(KCNQ1):c.521G>A (p.Arg174His) rs199472697 0.00001
NM_000218.3(KCNQ1):c.643G>A (p.Val215Met) rs17215479 0.00001
NM_000218.3(KCNQ1):c.683+5G>A rs397508122 0.00001
NM_000218.3(KCNQ1):c.776G>A (p.Arg259His) rs199472720 0.00001
NM_000237.3(LPL):c.589C>T (p.Arg197Cys) rs768128481 0.00001
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428 0.00001
NM_000238.4(KCNH2):c.188C>A (p.Pro63His) rs766379103 0.00001
NM_000238.4(KCNH2):c.2255G>A (p.Arg752Gln) rs121912512 0.00001
NM_000238.4(KCNH2):c.2467C>T (p.Arg823Trp) rs199473538 0.00001
NM_000238.4(KCNH2):c.2660G>A (p.Arg887His) rs199473432 0.00001
NM_000256.3(MYBPC3):c.1227-13G>A rs397515893 0.00001
NM_000256.3(MYBPC3):c.1227-2A>G rs730880531 0.00001
NM_000256.3(MYBPC3):c.1A>T (p.Met1Leu) rs1461764618 0.00001
NM_000256.3(MYBPC3):c.3331-2A>C rs869025469 0.00001
NM_000256.3(MYBPC3):c.481C>A (p.Pro161Thr) rs397516053 0.00001
NM_000256.3(MYBPC3):c.655G>T (p.Val219Phe) rs397516068 0.00001
NM_000256.3(MYBPC3):c.851+2T>C rs1194615408 0.00001
NM_000256.3(MYBPC3):c.905G>A (p.Arg302Lys) rs1414396886 0.00001
NM_000257.4(MYH7):c.1129G>C (p.Gly377Arg) rs773599095 0.00001
NM_000257.4(MYH7):c.1231G>A (p.Val411Ile) rs730880868 0.00001
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr) rs397516103 0.00001
NM_000257.4(MYH7):c.1633G>A (p.Asp545Asn) rs564101364 0.00001
NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser) rs121913626 0.00001
NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys) rs727504240 0.00001
NM_000257.4(MYH7):c.2536G>C (p.Glu846Gln) rs730880748 0.00001
NM_000257.4(MYH7):c.2555T>C (p.Met852Thr) rs397516157 0.00001
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878 0.00001
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161 0.00001
NM_000257.4(MYH7):c.3169G>A (p.Gly1057Ser) rs397516179 0.00001
NM_000257.4(MYH7):c.343T>C (p.Tyr115His) rs397516183 0.00001
NM_000257.4(MYH7):c.3578G>A (p.Arg1193His) rs397516187 0.00001
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln) rs727504325 0.00001
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp) rs145213771 0.00001
NM_000257.4(MYH7):c.4259G>A (p.Arg1420Gln) rs397516207 0.00001
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp) rs727503278 0.00001
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209 0.00001
NM_000257.4(MYH7):c.550A>C (p.Lys184Gln) rs730880843 0.00001
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp) rs45516091 0.00001
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys) rs397516265 0.00001
NM_000258.3(MYL3):c.281G>A (p.Arg94His) rs199474703 0.00001
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) rs104893750 0.00001
NM_000258.3(MYL3):c.446T>C (p.Met149Thr) rs202141423 0.00001
NM_000335.5(SCN5A):c.1066G>A (p.Asp356Asn) rs199473565 0.00001
NM_000335.5(SCN5A):c.1890G>A (p.Thr630=) rs1204915217 0.00001
NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln) rs199473584 0.00001
NM_000335.5(SCN5A):c.2614G>A (p.Asp872Asn) rs763396298 0.00001
NM_000335.5(SCN5A):c.2677C>T (p.Arg893Cys) rs199473171 0.00001
NM_000335.5(SCN5A):c.2678G>A (p.Arg893His) rs199473172 0.00001
NM_000335.5(SCN5A):c.3659C>T (p.Ala1220Val) rs727503407 0.00001
NM_000335.5(SCN5A):c.3985G>A (p.Ala1329Thr) rs199473224 0.00001
NM_000335.5(SCN5A):c.4296+1G>A rs2061175467 0.00001
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His) rs199473286 0.00001
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604 0.00001
NM_000335.5(SCN5A):c.656G>A (p.Arg219His) rs878855296 0.00001
NM_000335.5(SCN5A):c.841G>A (p.Val281Met) rs776363986 0.00001
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) rs397516349 0.00001
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354 0.00001
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe) rs727504242 0.00001
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) rs104894727 0.00001
NM_000363.5(TNNI3):c.592C>G (p.Leu198Val) rs727504285 0.00001
NM_000371.4(TTR):c.239C>T (p.Thr80Ile) rs1254341785 0.00001
NM_000371.4(TTR):c.293A>T (p.Tyr98Phe) rs958191819 0.00001
NM_000371.4(TTR):c.301G>A (p.Ala101Thr) rs730881165 0.00001
NM_000483.5(APOC2):c.274C>T (p.Gln92Ter) rs199563828 0.00001
NM_000527.5(LDLR):c.-152C>T rs879254367 0.00001
NM_000527.5(LDLR):c.1060+2T>G rs774069731 0.00001
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro) rs730882098 0.00001
NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln) rs552422789 0.00001
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met) rs368562025 0.00001
NM_000527.5(LDLR):c.1241T>G (p.Leu414Arg) rs748554592 0.00001
NM_000527.5(LDLR):c.1307T>C (p.Val436Ala) rs779732323 0.00001
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102 0.00001
NM_000527.5(LDLR):c.1436T>C (p.Leu479Pro) rs879254900 0.00001
NM_000527.5(LDLR):c.1463T>C (p.Ile488Thr) rs879254913 0.00001
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val) rs755667663 0.00001
NM_000527.5(LDLR):c.1592T>A (p.Met531Lys) rs779913921 0.00001
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser) rs758194385 0.00001
NM_000527.5(LDLR):c.1822C>T (p.Pro608Ser) rs879255034 0.00001
NM_000527.5(LDLR):c.1898G>A (p.Arg633His) rs754536745 0.00001
NM_000527.5(LDLR):c.190+4A>T rs769446356 0.00001
NM_000527.5(LDLR):c.1906G>A (p.Gly636Ser) rs764550980 0.00001
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn) rs730882110 0.00001
NM_000527.5(LDLR):c.1966C>A (p.His656Asn) rs762815611 0.00001
NM_000527.5(LDLR):c.2023G>A (p.Gly675Ser) rs770744861 0.00001
NM_000527.5(LDLR):c.223T>A (p.Cys75Ser) rs879254439 0.00001
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys) rs730882078 0.00001
NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr) rs730882080 0.00001
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689 0.00001
NM_000527.5(LDLR):c.632A>T (p.His211Leu) rs879254603 0.00001
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn) rs875989906 0.00001
NM_000527.5(LDLR):c.664T>C (p.Cys222Arg) rs577934998 0.00001
NM_000527.5(LDLR):c.67+1G>A rs762417023 0.00001
NM_000527.5(LDLR):c.671A>G (p.Asp224Gly) rs879254630 0.00001
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe) rs121908040 0.00001
NM_000527.5(LDLR):c.788A>G (p.Asp263Gly) rs141681167 0.00001
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu) rs730882090 0.00001
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp) rs573951598 0.00001
NM_001005242.3(PKP2):c.1034+1G>A rs869025496 0.00001
NM_001005242.3(PKP2):c.1834A>T (p.Lys612Ter) rs1158333072 0.00001
NM_001005242.3(PKP2):c.2446-2A>C rs1060501188 0.00001
NM_001010874.5(TECRL):c.730+1G>A rs369606261 0.00001
NM_001018005.2(TPM1):c.250G>A (p.Asp84Asn) rs754664923 0.00001
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu) rs730881151 0.00001
NM_001018005.2(TPM1):c.64G>A (p.Ala22Thr) rs397516382 0.00001
NM_001035.3(RYR2):c.12334G>A (p.Asp4112Asn) rs1695348814 0.00001
NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys) rs764698152 0.00001
NM_001035.3(RYR2):c.365G>A (p.Arg122His) rs727503396 0.00001
NM_001035.3(RYR2):c.7550A>G (p.Asn2517Ser) rs1314129285 0.00001
NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys) rs786205830 0.00001
NM_001079802.2(FKTN):c.1129_1130del (p.Met377fs) rs1554761402 0.00001
NM_001079802.2(FKTN):c.1175dup (p.Tyr392Ter) rs1383324318 0.00001
NM_001079802.2(FKTN):c.1270G>A (p.Gly424Ser) rs752358445 0.00001
NM_001114753.3(ENG):c.-10C>T rs756994701 0.00001
NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln) rs267607001 0.00001
NM_001134363.3(RBM20):c.3452G>C (p.Gly1151Ala) rs1185476843 0.00001
NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser) rs869025431 0.00001
NM_001232.4(CASQ2):c.420+1G>A rs368728701 0.00001
NM_001232.4(CASQ2):c.532+1G>A rs1202663155 0.00001
NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter) rs1064793560 0.00001
NM_001267550.2(TTN):c.100886G>A (p.Trp33629Ter) rs1260821931 0.00001
NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter) rs766265889 0.00001
NM_001267550.2(TTN):c.101227C>T (p.Arg33743Ter) rs794729305 0.00001
NM_001267550.2(TTN):c.103771C>T (p.Arg34591Ter) rs967542291 0.00001
NM_001267550.2(TTN):c.104092C>T (p.Arg34698Ter) rs727504184 0.00001
NM_001267550.2(TTN):c.104399del (p.Arg34800fs) rs747662439 0.00001
NM_001267550.2(TTN):c.104653C>T (p.Arg34885Ter) rs1057518003 0.00001
NM_001267550.2(TTN):c.104827C>T (p.Arg34943Ter) rs1202115268 0.00001
NM_001267550.2(TTN):c.105754C>T (p.Arg35252Ter) rs886043924 0.00001
NM_001267550.2(TTN):c.105805del (p.Thr35269fs) rs752787097 0.00001
NM_001267550.2(TTN):c.106114_106115dup (p.Leu35372fs) rs1394131775 0.00001
NM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter) rs1009131948 0.00001
NM_001267550.2(TTN):c.325C>T (p.Arg109Ter) rs150954246 0.00001
NM_001267550.2(TTN):c.42214C>T (p.Arg14072Ter) rs794729258 0.00001
NM_001267550.2(TTN):c.43319G>A (p.Trp14440Ter) rs372663057 0.00001
NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter) rs397517580 0.00001
NM_001267550.2(TTN):c.45322C>T (p.Arg15108Ter) rs1060500405 0.00001
NM_001267550.2(TTN):c.48015_48016del (p.Asp16007fs) rs794729319 0.00001
NM_001267550.2(TTN):c.48760+1G>T rs1474000709 0.00001
NM_001267550.2(TTN):c.49171C>T (p.Arg16391Ter) rs570046043 0.00001
NM_001267550.2(TTN):c.49870C>T (p.Arg16624Ter) rs1471414348 0.00001
NM_001267550.2(TTN):c.51667C>T (p.Arg17223Ter) rs748956593 0.00001
NM_001267550.2(TTN):c.52009C>T (p.Arg17337Ter) rs1343120755 0.00001
NM_001267550.2(TTN):c.54166C>T (p.Arg18056Ter) rs768431507 0.00001
NM_001267550.2(TTN):c.54418C>T (p.Arg18140Ter) rs747236787 0.00001
NM_001267550.2(TTN):c.54652C>T (p.Arg18218Ter) rs775367836 0.00001
NM_001267550.2(TTN):c.55660C>T (p.Arg18554Ter) rs1483931960 0.00001
NM_001267550.2(TTN):c.56401C>T (p.Gln18801Ter) rs2052670569 0.00001
NM_001267550.2(TTN):c.57127del (p.Glu19042_Val19043insTer) rs2052216955 0.00001
NM_001267550.2(TTN):c.57262+1G>A rs1468372318 0.00001
NM_001267550.2(TTN):c.57849del (p.Val19284fs) rs776385412 0.00001
NM_001267550.2(TTN):c.58195C>T (p.Arg19399Ter) rs768073446 0.00001
NM_001267550.2(TTN):c.58732+2T>C rs869312054 0.00001
NM_001267550.2(TTN):c.59201_59202del (p.Pro19734fs) rs752948913 0.00001
NM_001267550.2(TTN):c.59460G>A (p.Trp19820Ter) rs1250461669 0.00001
NM_001267550.2(TTN):c.59693G>A (p.Trp19898Ter) rs974671846 0.00001
NM_001267550.2(TTN):c.60681dup (p.Lys20228Ter) rs797044692 0.00001
NM_001267550.2(TTN):c.6355G>T (p.Glu2119Ter) rs869312098 0.00001
NM_001267550.2(TTN):c.6508+1G>T rs1373416532 0.00001
NM_001267550.2(TTN):c.67348+1G>A rs758279518 0.00001
NM_001267550.2(TTN):c.68885_68888dup (p.Ile22964fs) rs757603460 0.00001
NM_001267550.2(TTN):c.7498C>T (p.Gln2500Ter) rs1561253718 0.00001
NM_001267550.2(TTN):c.76654C>T (p.Arg25552Ter) rs545954490 0.00001
NM_001267550.2(TTN):c.77145dup (p.Ser25716fs) rs1205409465 0.00001
NM_001267550.2(TTN):c.78178G>T (p.Glu26060Ter) rs794729289 0.00001
NM_001267550.2(TTN):c.78979C>T (p.Arg26327Ter) rs1419374180 0.00001
NM_001267550.2(TTN):c.81715C>T (p.Gln27239Ter) rs1408614204 0.00001
NM_001267550.2(TTN):c.82240C>T (p.Arg27414Ter) rs766840243 0.00001
NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter) rs1575649368 0.00001
NM_001267550.2(TTN):c.83064_83073del (p.Ala27689fs) rs794729351 0.00001
NM_001267550.2(TTN):c.83416C>T (p.Arg27806Ter) rs886055237 0.00001
NM_001267550.2(TTN):c.86335C>T (p.Arg28779Ter) rs1060500525 0.00001
NM_001267550.2(TTN):c.88837A>T (p.Lys29613Ter) rs794729300 0.00001
NM_001267550.2(TTN):c.89220_89221insT (p.Ile29741fs) rs1064794472 0.00001
NM_001267550.2(TTN):c.90697C>T (p.Arg30233Ter) rs1553539391 0.00001
NM_001267550.2(TTN):c.92317C>T (p.Arg30773Ter) rs794729301 0.00001
NM_001267550.2(TTN):c.93139C>T (p.Arg31047Ter) rs1416323929 0.00001
NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter) rs146572907 0.00001
NM_001267550.2(TTN):c.95008C>T (p.Arg31670Ter) rs1322596650 0.00001
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu) rs753334568 0.00001
NM_001267550.2(TTN):c.96697C>T (p.Arg32233Ter) rs781171206 0.00001
NM_001267550.2(TTN):c.97633C>T (p.Arg32545Ter) rs780653613 0.00001
NM_001267550.2(TTN):c.98506C>T (p.Arg32836Ter) rs869312085 0.00001
NM_001267550.2(TTN):c.98551C>T (p.Arg32851Ter) rs553821887 0.00001
NM_001276345.2(TNNT2):c.163G>T (p.Glu55Ter) rs730881120 0.00001
NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala) rs397516455 0.00001
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) rs397516463 0.00001
NM_001276345.2(TNNT2):c.544G>T (p.Ala182Ser) rs730881097 0.00001
NM_001276345.2(TNNT2):c.764C>T (p.Ala255Val) rs369181536 0.00001
NM_001276345.2(TNNT2):c.803A>T (p.Lys268Ile) rs397516482 0.00001
NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys) rs367785431 0.00001
NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter) rs727504247 0.00001
NM_001367624.2(ZNF469):c.6297_6298del (p.Gly2100_Asp2101insTer) rs764745826 0.00001
NM_001371904.1(APOA5):c.427del (p.Arg143fs) rs777046568 0.00001
NM_001371904.1(APOA5):c.775A>T (p.Arg259Ter) rs758216033 0.00001
NM_001371904.1(APOA5):c.888del (p.Ile296fs) rs1477198098 0.00001
NM_001378454.1(ALMS1):c.12299-2A>G rs759788656 0.00001
NM_001458.5(FLNC):c.5199+1G>T rs1465588989 0.00001
NM_001458.5(FLNC):c.6889G>A (p.Val2297Met) rs1420394583 0.00001
NM_001943.5(DSG2):c.391G>A (p.Ala131Thr) rs373542380 0.00001
NM_001943.5(DSG2):c.523+1G>C rs553299589 0.00001
NM_002230.4(JUP):c.902A>G (p.Glu301Gly) rs782058451 0.00001
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) rs267607125 0.00001
NM_003476.5(CSRP3):c.449G>A (p.Cys150Tyr) rs761507504 0.00001
NM_004100.5(EYA4):c.1739-1G>A rs797045088 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_005477.3(HCN4):c.1454C>T (p.Ala485Val) rs1454748709 0.00001
NM_005502.4(ABCA1):c.4175+1G>T rs375247413 0.00001
NM_005502.4(ABCA1):c.6238C>T (p.Arg2080Trp) rs780321144 0.00001
NM_006073.4(TRDN):c.22G>C (p.Gly8Arg) rs1350873943 0.00001
NM_006912.6(RIT1):c.251C>T (p.Ala84Val) rs869025196 0.00001
NM_014908.4(DOLK):c.857G>A (p.Trp286Ter) rs766645192 0.00001
NM_014908.4(DOLK):c.991C>T (p.Gln331Ter) rs761604406 0.00001
NM_015627.3(LDLRAP1):c.1A>G (p.Met1Val) rs1019504966 0.00001
NM_022773.4(LMF1):c.383T>A (p.Leu128Ter) rs2072617381 0.00001
NM_022773.4(LMF1):c.862del (p.Cys288fs) rs778522733 0.00001
NM_022773.4(LMF1):c.966del (p.Phe323fs) rs2544498725 0.00001
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu) rs104894681 0.00001
NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr) rs1301397800 0.00001
NM_024301.5(FKRP):c.544T>C (p.Tyr182His) rs753390261 0.00001
NM_024422.6(DSC2):c.631-2A>G rs397514042 0.00001
NM_130468.4(CHST14):c.958C>T (p.Arg320Ter) rs1555410784 0.00001
NM_170707.4(LMNA):c.1583C>T (p.Thr528Met) rs57629361 0.00001
NM_170707.4(LMNA):c.1608+5G>A rs267607539 0.00001
NM_170707.4(LMNA):c.1744C>T (p.Arg582Cys) rs918645468 0.00001
NM_170707.4(LMNA):c.1745G>A (p.Arg582His) rs57830985 0.00001
NM_170707.4(LMNA):c.274C>T (p.Leu92Phe) rs267607560 0.00001
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906 0.00001
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln) rs104894378 0.00001
NC_000002.12:g.178552644_178552645del rs773840992
NC_000011.10:g.47332705G>C rs730880592
NC_000011.10:g.47338688G>C rs773882783
NC_000011.10:g.47351310delinsAA rs1555123743
NC_000019.10:g.11089393C>T rs879254364
NM_000020.3(ACVRL1):c.1012G>T (p.Val338Phe) rs2540164872
NM_000020.3(ACVRL1):c.1023C>G (p.Asn341Lys) rs2540164910
NM_000020.3(ACVRL1):c.1027_1047del (p.Gln343_Leu349del) rs1592224385
NM_000020.3(ACVRL1):c.1030T>C (p.Cys344Arg) rs1592224412
NM_000020.3(ACVRL1):c.1048G>A (p.Gly350Ser) rs1565594547
NM_000020.3(ACVRL1):c.1049-1G>A rs1060503242
NM_000020.3(ACVRL1):c.1055C>A (p.Ala352Asp) rs1085307415
NM_000020.3(ACVRL1):c.1111G>A (p.Gly371Ser) rs2139076199
NM_000020.3(ACVRL1):c.1123T>C (p.Tyr375His) rs2139076336
NM_000020.3(ACVRL1):c.1130C>T (p.Ala377Val) rs2540166475
NM_000020.3(ACVRL1):c.1133C>T (p.Pro378Leu) rs1940833669
NM_000020.3(ACVRL1):c.1136A>C (p.Glu379Ala) rs2540166517
NM_000020.3(ACVRL1):c.1196G>C (p.Trp399Ser) rs121909289
NM_000020.3(ACVRL1):c.1199C>A (p.Ala400Asp) rs2139076990
NM_000020.3(ACVRL1):c.1208T>C (p.Leu403Pro) rs2540166760
NM_000020.3(ACVRL1):c.1246G>A (p.Gly416Ser) rs1592225112
NM_000020.3(ACVRL1):c.1273T>A (p.Phe425Ile) rs2540170652
NM_000020.3(ACVRL1):c.1275C>G (p.Phe425Leu) rs191763644
NM_000020.3(ACVRL1):c.1277A>G (p.Tyr426Cys) rs771606504
NM_000020.3(ACVRL1):c.1297C>T (p.Pro433Ser) rs2139084154
NM_000020.3(ACVRL1):c.1315AAG[1] (p.Lys440del) rs1940907616
NM_000020.3(ACVRL1):c.1346C>T (p.Pro449Leu) rs2139084385
NM_000020.3(ACVRL1):c.1378-78T>G rs1168929877
NM_000020.3(ACVRL1):c.137G>C (p.Cys46Ser) rs1555152454
NM_000020.3(ACVRL1):c.1398_1399del (p.Gln466fs) rs2540174463
NM_000020.3(ACVRL1):c.140G>C (p.Arg47Pro) rs774389618
NM_000020.3(ACVRL1):c.1427C>T (p.Pro476Leu) rs1940955941
NM_000020.3(ACVRL1):c.143G>A (p.Gly48Glu) rs267606632
NM_000020.3(ACVRL1):c.1451G>C (p.Arg484Pro) rs863223408
NM_000020.3(ACVRL1):c.1456A>G (p.Lys486Glu) rs113700354
NM_000020.3(ACVRL1):c.1466T>C (p.Leu489Pro) rs1057523573
NM_000020.3(ACVRL1):c.154A>C (p.Thr52Pro) rs1131691346
NM_000020.3(ACVRL1):c.229T>C (p.Cys77Arg) rs2540158883
NM_000020.3(ACVRL1):c.235G>A (p.Gly79Arg) rs2540158927
NM_000020.3(ACVRL1):c.265T>C (p.Cys89Arg) rs1555152520
NM_000020.3(ACVRL1):c.287A>G (p.Asn96Ser) rs2540159181
NM_000020.3(ACVRL1):c.313+2T>C rs2540159380
NM_000020.3(ACVRL1):c.313_313+1del rs2540159366
NM_000020.3(ACVRL1):c.526-1G>A rs1565593274
NM_000020.3(ACVRL1):c.526-1G>C rs1565593274
NM_000020.3(ACVRL1):c.526-6C>G rs1438077609
NM_000020.3(ACVRL1):c.526-7C>A rs772776468
NM_000020.3(ACVRL1):c.526-7C>G rs772776468
NM_000020.3(ACVRL1):c.62-36_66delinsTGAAG rs2540158011
NM_000020.3(ACVRL1):c.625+1G>A rs1940767034
NM_000020.3(ACVRL1):c.625G>A (p.Gly209Arg) rs1940766958
NM_000020.3(ACVRL1):c.625G>C (p.Gly209Arg) rs1940766958
NM_000020.3(ACVRL1):c.641G>T (p.Gly214Val) rs2540162521
NM_000020.3(ACVRL1):c.643G>A (p.Glu215Lys) rs754283265
NM_000020.3(ACVRL1):c.649T>G (p.Trp217Gly) rs2540162558
NM_000020.3(ACVRL1):c.706G>A (p.Glu236Lys) rs1592223490
NM_000020.3(ACVRL1):c.760_762del (p.Asp254del) rs387906393
NM_000020.3(ACVRL1):c.772G>A (p.Gly258Ser) rs1555152966
NM_000020.3(ACVRL1):c.794_799del (p.Thr265_Arg267delinsSer) rs2540164101
NM_000020.3(ACVRL1):c.824T>C (p.Leu275Pro) rs2540164174
NM_000020.3(ACVRL1):c.830C>A (p.Thr277Lys) rs750085854
NM_000020.3(ACVRL1):c.835_837dup (p.Tyr279_His280insTyr) rs2540164204
NM_000020.3(ACVRL1):c.839A>G (p.His280Arg) rs2540164236
NM_000020.3(ACVRL1):c.851C>T (p.Ser284Phe) rs768643771
NM_000020.3(ACVRL1):c.853C>T (p.Leu285Phe) rs1085307410
NM_000020.3(ACVRL1):c.854T>C (p.Leu285Pro) rs1085307411
NM_000020.3(ACVRL1):c.905T>C (p.Leu302Pro) rs1565594217
NM_000020.3(ACVRL1):c.914C>T (p.Ser305Phe) rs1555153126
NM_000020.3(ACVRL1):c.920C>A (p.Ala307Glu) rs863223411
NM_000020.3(ACVRL1):c.926G>T (p.Gly309Val) rs2540164531
NM_000020.3(ACVRL1):c.956G>A (p.Gly319Asp) rs2540164646
NM_000020.3(ACVRL1):c.967A>G (p.Lys323Glu) rs2540164690
NM_000020.3(ACVRL1):c.984C>G (p.His328Gln)
NM_000020.3(ACVRL1):c.988G>A (p.Asp330Asn) rs2540164775
NM_000020.3(ACVRL1):c.988_990delinsTGG (p.Asp330Trp) rs2540164781
NM_000039.3(APOA1):c.532_533del (p.Ala178fs) rs781350389
NM_000088.4(COL1A1):c.1299+5G>A rs193922139
NM_000088.4(COL1A1):c.3118G>C (p.Gly1040Arg)
NM_000088.4(COL1A1):c.3371G>A (p.Gly1124Asp) rs2509170044
NM_000088.4(COL1A1):c.3559G>T (p.Gly1187Cys) rs72656332
NM_000088.4(COL1A1):c.563G>A (p.Gly188Asp) rs1114167408
NM_000088.4(COL1A1):c.661G>A (p.Gly221Ser) rs72667037
NM_000088.4(COL1A1):c.859-17_859-16delinsGTAGATCAGAAT rs1555574417
NM_000089.4(COL1A2):c.326G>A (p.Gly109Asp) rs1114167416
NM_000089.4(COL1A2):c.3305G>C (p.Gly1102Ala) rs68063264
NM_000089.4(COL1A2):c.587G>A (p.Gly196Asp) rs2484702812
NM_000090.4(COL3A1):c.1347+1G>C
NM_000090.4(COL3A1):c.1871G>T (p.Gly624Val) rs1553508463
NM_000090.4(COL3A1):c.3103G>A (p.Gly1035Ser) rs587779704
NM_000090.4(COL3A1):c.3229G>A (p.Gly1077Ser) rs886038892
NM_000117.3(EMD):c.82G>A (p.Gly28Arg) rs1064797380
NM_000138.5(FBN1):c.1876G>A (p.Gly626Arg) rs794728177
NM_000138.5(FBN1):c.202T>A (p.Cys68Ser) rs113604459
NM_000138.5(FBN1):c.2201G>A (p.Cys734Tyr) rs794728187
NM_000138.5(FBN1):c.2241del (p.Lys747fs)
NM_000138.5(FBN1):c.2294-1G>T rs1064793914
NM_000138.5(FBN1):c.2728+2T>C rs886038898
NM_000138.5(FBN1):c.2740T>G (p.Cys914Gly) rs1555398994
NM_000138.5(FBN1):c.3457T>C (p.Cys1153Arg) rs886038877
NM_000138.5(FBN1):c.3777_3778delinsC (p.Glu1260fs)
NM_000138.5(FBN1):c.3963A>G (p.Thr1321=) rs140648
NM_000138.5(FBN1):c.4460-9_4468delinsA
NM_000138.5(FBN1):c.5372G>A (p.Cys1791Tyr) rs886038848
NM_000138.5(FBN1):c.5672-1G>C rs1555395849
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr) rs794728333
NM_000138.5(FBN1):c.6430A>C (p.Asn2144His) rs886038943
NM_000152.5(GAA):c.569G>A (p.Arg190His) rs528367092
NM_000169.3(GLA):c.1077_1086del (p.Gly360fs) rs2520852645
NM_000169.3(GLA):c.1085C>T (p.Pro362Leu) rs730880441
NM_000169.3(GLA):c.1117G>C (p.Gly373Arg)
NM_000169.3(GLA):c.167G>T (p.Cys56Phe) rs869312258
NM_000169.3(GLA):c.1A>G (p.Met1Val) rs869312265
NM_000169.3(GLA):c.254G>A (p.Gly85Asp) rs1569304898
NM_000169.3(GLA):c.335G>T (p.Arg112Leu) rs372966991
NM_000169.3(GLA):c.439G>A (p.Gly147Arg) rs1555985830
NM_000169.3(GLA):c.444T>G (p.Ser148Arg) rs1569304190
NM_000169.3(GLA):c.47T>C (p.Leu16Pro) rs869312310
NM_000169.3(GLA):c.512G>A (p.Gly171Asp) rs2520895216
NM_000169.3(GLA):c.540G>T (p.Leu180Phe) rs869312145
NM_000169.3(GLA):c.613C>A (p.Pro205Thr) rs397515870
NM_000169.3(GLA):c.667T>C (p.Cys223Arg) rs869312381
NM_000169.3(GLA):c.668G>A (p.Cys223Tyr) rs869312382
NM_000169.3(GLA):c.695T>C (p.Ile232Thr) rs797044749
NM_000169.3(GLA):c.704C>G (p.Ser235Cys) rs797044746
NM_000169.3(GLA):c.712A>T (p.Ser238Cys)
NM_000169.3(GLA):c.713G>A (p.Ser238Asn) rs730880450
NM_000169.3(GLA):c.802-2A>T rs797044499
NM_000169.3(GLA):c.811G>T (p.Gly271Cys)
NM_000169.3(GLA):c.812G>T (p.Gly271Val) rs869312429
NM_000169.3(GLA):c.828C>A (p.Ser276Arg) rs1555985010
NM_000169.3(GLA):c.962A>G (p.Gln321Arg) rs1928161905
NM_000214.3(JAG1):c.886+3A>G rs1555829065
NM_000218.3(KCNQ1):c.1024C>T (p.Leu342Phe) rs199472760
NM_000218.3(KCNQ1):c.1025T>A (p.Leu342His) rs794728522
NM_000218.3(KCNQ1):c.1027C>T (p.Pro343Ser) rs199472762
NM_000218.3(KCNQ1):c.1031C>A (p.Ala344Glu) rs199472763
NM_000218.3(KCNQ1):c.1039C>T (p.Leu347Phe)
NM_000218.3(KCNQ1):c.1046C>G (p.Ser349Trp) rs199472765
NM_000218.3(KCNQ1):c.1097G>T (p.Arg366Leu) rs199473410
NM_000218.3(KCNQ1):c.1111G>A (p.Ala371Thr) rs199473412
NM_000218.3(KCNQ1):c.1140G>T (p.Arg380Ser) rs199472771
NM_000218.3(KCNQ1):c.1214_1215del (p.Leu405fs) rs1848613169
NM_000218.3(KCNQ1):c.1394-2A>G rs2133855926
NM_000218.3(KCNQ1):c.1559T>G (p.Met520Arg) rs199473479
NM_000218.3(KCNQ1):c.1565A>C (p.Tyr522Ser) rs199472789
NM_000218.3(KCNQ1):c.1573G>A (p.Ala525Thr) rs120074188
NM_000218.3(KCNQ1):c.1602del (p.Lys534fs)
NM_000218.3(KCNQ1):c.1616G>A (p.Arg539Gln) rs199472794
NM_000218.3(KCNQ1):c.1685+1G>A rs794728531
NM_000218.3(KCNQ1):c.1686-2A>G rs878854350
NM_000218.3(KCNQ1):c.1686G>C (p.Arg562Ser) rs794728535
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe) rs199472804
NM_000218.3(KCNQ1):c.1703G>C (p.Gly568Ala) rs199472806
NM_000218.3(KCNQ1):c.1781G>C (p.Arg594Pro) rs199472815
NM_000218.3(KCNQ1):c.1794+2T>C rs2494146135
NM_000218.3(KCNQ1):c.1795-2A>G rs867564993
NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs) rs397508103
NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs) rs397508104
NM_000218.3(KCNQ1):c.341T>C (p.Leu114Pro) rs199473448
NM_000218.3(KCNQ1):c.344A>G (p.Glu115Gly) rs199472679
NM_000218.3(KCNQ1):c.478G>A (p.Glu160Lys) rs199473453
NM_000218.3(KCNQ1):c.521G>C (p.Arg174Pro) rs199472697
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000218.3(KCNQ1):c.551A>C (p.Tyr184Ser) rs199473397
NM_000218.3(KCNQ1):c.556G>T (p.Gly186Cys) rs199473398
NM_000218.3(KCNQ1):c.569G>T (p.Arg190Leu) rs120074178
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456
NM_000218.3(KCNQ1):c.677C>T (p.Ala226Val) rs199472707
NM_000218.3(KCNQ1):c.692G>T (p.Arg231Leu) rs199472709
NM_000218.3(KCNQ1):c.716T>C (p.Leu239Pro) rs199473458
NM_000218.3(KCNQ1):c.726C>A (p.Asp242Glu) rs1589957756
NM_000218.3(KCNQ1):c.760G>T (p.Val254Leu) rs120074179
NM_000218.3(KCNQ1):c.773A>G (p.His258Arg) rs199472718
NM_000218.3(KCNQ1):c.776G>T (p.Arg259Leu) rs199472720
NM_000218.3(KCNQ1):c.781G>A (p.Glu261Lys) rs199472722
NM_000218.3(KCNQ1):c.850G>A (p.Glu284Lys) rs199472734
NM_000218.3(KCNQ1):c.899C>A (p.Ala300Glu) rs1001293702
NM_000218.3(KCNQ1):c.902A>T (p.Asp301Val) rs1554893260
NM_000218.3(KCNQ1):c.905C>A (p.Ala302Glu) rs193922365
NM_000218.3(KCNQ1):c.921+1G>T rs397508130
NM_000218.3(KCNQ1):c.921G>A (p.Val307=) rs397508131
NM_000218.3(KCNQ1):c.935C>T (p.Thr312Ile) rs120074182
NM_000218.3(KCNQ1):c.958C>T (p.Pro320Ser) rs199472753
NM_000218.3(KCNQ1):c.964A>G (p.Thr322Ala) rs199472754
NM_000218.3(KCNQ1):c.965C>G (p.Thr322Arg) rs199472755
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) rs199473362
NM_000237.3(LPL):c.1139+1G>A rs767260655
NM_000237.3(LPL):c.1187A>T (p.Glu396Val) rs886037775
NM_000237.3(LPL):c.1322+1G>C rs2128839625
NM_000237.3(LPL):c.242G>A (p.Gly81Asp) rs762007406
NM_000237.3(LPL):c.989T>C (p.Leu330Pro)
NM_000238.3:c.(2692+1_2693-1)_(3330+1_3331-1)del
NM_000238.4(KCNH2):c.1128+1G>C rs1405113457
NM_000238.4(KCNH2):c.1236G>A (p.Trp412Ter)
NM_000238.4(KCNH2):c.1280A>C (p.Tyr427Ser) rs199472897
NM_000238.4(KCNH2):c.1342G>A (p.Ala448Thr) rs767723985
NM_000238.4(KCNH2):c.1421C>T (p.Thr474Ile) rs199472906
NM_000238.4(KCNH2):c.1468G>A (p.Ala490Thr) rs28928905
NM_000238.4(KCNH2):c.1496T>G (p.Leu499Arg) rs794728370
NM_000238.4(KCNH2):c.1501G>A (p.Asp501Asn) rs199472912
NM_000238.4(KCNH2):c.1520C>T (p.Pro507Leu) rs794728372
NM_000238.4(KCNH2):c.1557+1G>C rs886039043
NM_000238.4(KCNH2):c.157G>C (p.Gly53Arg) rs199472842
NM_000238.4(KCNH2):c.157G>T (p.Gly53Cys) rs199472842
NM_000238.4(KCNH2):c.1592G>A (p.Arg531Gln) rs199473515
NM_000238.4(KCNH2):c.160T>C (p.Tyr54His) rs199472843
NM_000238.4(KCNH2):c.164C>T (p.Ser55Leu) rs199472844
NM_000238.4(KCNH2):c.1684C>T (p.His562Tyr) rs794728481
NM_000238.4(KCNH2):c.1685A>G (p.His562Arg) rs199472922
NM_000238.4(KCNH2):c.1693G>C (p.Ala565Pro) rs199473518
NM_000238.4(KCNH2):c.1711A>G (p.Ile571Val) rs199472928
NM_000238.4(KCNH2):c.1764C>A (p.Asn588Lys) rs104894021
NM_000238.4(KCNH2):c.1764C>G (p.Asn588Lys) rs104894021
NM_000238.4(KCNH2):c.1874T>C (p.Val625Ala) rs199472951
NM_000238.4(KCNH2):c.1882G>C (p.Gly628Arg) rs121912507
NM_000238.4(KCNH2):c.1894C>G (p.Pro632Ala) rs199473527
NM_000238.4(KCNH2):c.1894C>T (p.Pro632Ser) rs199473527
NM_000238.4(KCNH2):c.1904A>T (p.Asn635Ile) rs199472964
NM_000238.4(KCNH2):c.1910AGA[1] (p.Lys638del) rs794728442
NM_000238.4(KCNH2):c.1911G>C (p.Glu637Asp) rs199472966
NM_000238.4(KCNH2):c.1945+1G>C rs794728487
NM_000238.4(KCNH2):c.2013_2145+77del rs2486029577
NM_000238.4(KCNH2):c.209A>G (p.His70Arg) rs199473419
NM_000238.4(KCNH2):c.212G>A (p.Gly71Glu) rs886039183
NM_000238.4(KCNH2):c.2145+1G>A rs886039385
NM_000238.4(KCNH2):c.2146-1G>C rs2116950992
NM_000238.4(KCNH2):c.215C>T (p.Pro72Leu) rs199473421
NM_000238.4(KCNH2):c.2312A>G (p.His771Arg) rs1060500659
NM_000238.4(KCNH2):c.2367C>G (p.Ile789Met)
NM_000238.4(KCNH2):c.2398+5G>T rs1554425149
NM_000238.4(KCNH2):c.2414T>G (p.Phe805Cys) rs199472999
NM_000238.4(KCNH2):c.2510A>G (p.Asp837Gly) rs199473004
NM_000238.4(KCNH2):c.2536C>T (p.Pro846Ser) rs199473006
NM_000238.4(KCNH2):c.2766del (p.Pro923fs) rs1554424403
NM_000238.4(KCNH2):c.2785G>T (p.Glu929Ter)
NM_000238.4(KCNH2):c.298C>T (p.Arg100Trp) rs121912515
NM_000238.4(KCNH2):c.3125T>C (p.Leu1042Pro) rs886039064
NM_000238.4(KCNH2):c.3453_3454del (p.His1151fs) rs1554423346
NM_000238.4(KCNH2):c.67G>A (p.Glu23Lys)
NM_000238.4(KCNH2):c.76+1dup rs2117072537
NM_000238.4(KCNH2):c.832_916+11del rs2486087544
NM_000238.4(KCNH2):c.87C>G (p.Phe29Leu) rs199472830
NM_000238.4(KCNH2):c.917-1G>T rs2486083513
NM_000238.4(KCNH2):c.94G>C (p.Ala32Pro)
NM_000256.3(MYBPC3):c.107del (p.Ala36fs) rs2495786486
NM_000256.3(MYBPC3):c.1090G>A (p.Ala364Thr) rs794727046
NM_000256.3(MYBPC3):c.111del (p.Gly37_Val38insTer)
NM_000256.3(MYBPC3):c.112_115del (p.Val38fs) rs2142869736
NM_000256.3(MYBPC3):c.1224-2A>G rs397515891
NM_000256.3(MYBPC3):c.1227-39_1263del rs2495764295
NM_000256.3(MYBPC3):c.133G>T (p.Gly45Ter)
NM_000256.3(MYBPC3):c.1351+2T>C rs397515897
NM_000256.3(MYBPC3):c.1352-2A>G
NM_000256.3(MYBPC3):c.1457+2T>G rs112999777
NM_000256.3(MYBPC3):c.1457+2del
NM_000256.3(MYBPC3):c.1457+5G>T rs727503202
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp) rs397515905
NM_000256.3(MYBPC3):c.1504C>G (p.Arg502Gly) rs375882485
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del) rs727504287
NM_000256.3(MYBPC3):c.1536del (p.Ile513fs)
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg) rs397515912
NM_000256.3(MYBPC3):c.1624+1G>T rs1252584025
NM_000256.3(MYBPC3):c.1790+1G>A rs1555122053
NM_000256.3(MYBPC3):c.1897+1G>A rs397515935
NM_000256.3(MYBPC3):c.2060_2063delinsGA (p.Ile687fs)
NM_000256.3(MYBPC3):c.2148+1G>T rs1060499604
NM_000256.3(MYBPC3):c.2163dup (p.Glu722fs)
NM_000256.3(MYBPC3):c.2291_2308+3del rs2095884867
NM_000256.3(MYBPC3):c.2413+1G>A rs1595843828
NM_000256.3(MYBPC3):c.2413+2T>A rs2495750255
NM_000256.3(MYBPC3):c.2429G>T (p.Arg810Leu) rs375675796
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp) rs775404728
NM_000256.3(MYBPC3):c.2528_2536del (p.Glu843_Arg845del) rs397515972
NM_000256.3(MYBPC3):c.252_262del (p.Ser85fs) rs2095900581
NM_000256.3(MYBPC3):c.2602+2T>G rs1555121145
NM_000256.3(MYBPC3):c.2737+2_2737+3del rs1265248322
NM_000256.3(MYBPC3):c.2738-2A>G rs1595842632
NM_000256.3(MYBPC3):c.2825del (p.Phe942fs) rs1265547595
NM_000256.3(MYBPC3):c.2993A>C (p.Gln998Pro) rs727503177
NM_000256.3(MYBPC3):c.2994+1del rs2095879886
NM_000256.3(MYBPC3):c.3083C>T (p.Thr1028Ile) rs397516002
NM_000256.3(MYBPC3):c.3190+5G>C rs587782958
NM_000256.3(MYBPC3):c.3227_3233del (p.Asp1076fs) rs2495740224
NM_000256.3(MYBPC3):c.3330+1G>T rs1298025872
NM_000256.3(MYBPC3):c.3330+5G>T rs373746463
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.3482_3490+3delinsTCATTCTT
NM_000256.3(MYBPC3):c.3491-2A>C rs397516022
NM_000256.3(MYBPC3):c.3593_3627+20del rs2495737667
NM_000256.3(MYBPC3):c.3713T>C (p.Leu1238Pro) rs730880702
NM_000256.3(MYBPC3):c.3764CCA[1] (p.Thr1256del) rs397516040
NM_000256.3(MYBPC3):c.3774dup (p.Gln1259fs)
NM_000256.3(MYBPC3):c.3782_3792delinsCCTG (p.Glu1261fs) rs1085307897
NM_000256.3(MYBPC3):c.3787del (p.Arg1263fs) rs2495736043
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000256.3(MYBPC3):c.505+5G>T
NM_000256.3(MYBPC3):c.565del (p.Val189fs) rs2142867765
NM_000256.3(MYBPC3):c.654+5G>A rs397516066
NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His) rs730880624
NM_000256.3(MYBPC3):c.710A>G (p.Tyr237Cys) rs397516070
NM_000256.3(MYBPC3):c.821+2dup rs2495775259
NM_000256.3(MYBPC3):c.821+3G>T rs727503213
NM_000256.3(MYBPC3):c.927-10C>A rs201078659
NM_000256.3:c.(1927+1_1928-1)_(2602+1_2603-1)del
NM_000257.4(MYH7):c.1012G>A (p.Val338Met) rs727503271
NM_000257.4(MYH7):c.1051A>G (p.Lys351Glu) rs730880864
NM_000257.4(MYH7):c.1132A>C (p.Thr378Pro) rs397516090
NM_000257.4(MYH7):c.1219G>T (p.Gly407Cys) rs1566535368
NM_000257.4(MYH7):c.1220G>T (p.Gly407Val) rs397516095
NM_000257.4(MYH7):c.1283C>T (p.Ala428Val) rs727503266
NM_000257.4(MYH7):c.1318G>A (p.Val440Met) rs397516098
NM_000257.4(MYH7):c.1319T>C (p.Val440Ala) rs1244840759
NM_000257.4(MYH7):c.1358G>T (p.Arg453Leu) rs397516101
NM_000257.4(MYH7):c.1436A>G (p.Asn479Ser) rs727504236
NM_000257.4(MYH7):c.1477A>G (p.Met493Val) rs730880875
NM_000257.4(MYH7):c.1549C>A (p.Leu517Met) rs727504237
NM_000257.4(MYH7):c.1618T>C (p.Phe540Leu) rs1060501443
NM_000257.4(MYH7):c.1748C>T (p.Ala583Val) rs2138672244
NM_000257.4(MYH7):c.1750G>T (p.Gly584Cys) rs121913626
NM_000257.4(MYH7):c.1751G>A (p.Gly584Asp) rs1595085409
NM_000257.4(MYH7):c.1805A>G (p.Asn602Ser) rs730880880
NM_000257.4(MYH7):c.1826A>G (p.Tyr609Cys) rs727504925
NM_000257.4(MYH7):c.1871A>G (p.Tyr624Cys) rs727504291
NM_000257.4(MYH7):c.1970A>C (p.Lys657Thr)
NM_000257.4(MYH7):c.1977G>A (p.Met659Ile) rs1241603111
NM_000257.4(MYH7):c.1987C>A (p.Arg663Ser) rs397516127
NM_000257.4(MYH7):c.2012G>A (p.Arg671His) rs730880883
NM_000257.4(MYH7):c.2104A>G (p.Ile702Val) rs863225101
NM_000257.4(MYH7):c.2129C>A (p.Pro710His) rs727504272
NM_000257.4(MYH7):c.2345G>A (p.Ser782Asn) rs886039185
NM_000257.4(MYH7):c.2386C>T (p.Leu796Phe) rs1222361739
NM_000257.4(MYH7):c.2419C>T (p.Arg807Cys) rs2138666871
NM_000257.4(MYH7):c.2459C>A (p.Ala820Asp) rs730880741
NM_000257.4(MYH7):c.2464A>G (p.Met822Val) rs730880742
NM_000257.4(MYH7):c.2536G>A (p.Glu846Lys) rs730880748
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) rs397516155
NM_000257.4(MYH7):c.2543A>G (p.Glu848Gly) rs727504311
NM_000257.4(MYH7):c.2546T>C (p.Met849Thr) rs397516156
NM_000257.4(MYH7):c.2573G>C (p.Arg858Pro) rs2856897
NM_000257.4(MYH7):c.2593A>G (p.Lys865Glu) rs730880749
NM_000257.4(MYH7):c.2602G>C (p.Ala868Pro) rs727504356
NM_000257.4(MYH7):c.2618T>C (p.Leu873Pro) rs1555337701
NM_000257.4(MYH7):c.2631G>A (p.Met877Ile) rs1060505018
NM_000257.4(MYH7):c.2631G>C (p.Met877Ile) rs1060505018
NM_000257.4(MYH7):c.2631G>T (p.Met877Ile) rs1060505018
NM_000257.4(MYH7):c.2649GAA[1] (p.Lys884del) rs193922387
NM_000257.4(MYH7):c.2699A>T (p.Asp900Val) rs397516163
NM_000257.4(MYH7):c.2707G>A (p.Glu903Lys) rs730880756
NM_000257.4(MYH7):c.2711G>C (p.Arg904Pro) rs397516165
NM_000257.4(MYH7):c.2738T>C (p.Ile913Thr) rs1360649783
NM_000257.4(MYH7):c.2738T>G (p.Ile913Ser) rs1360649783
NM_000257.4(MYH7):c.2761G>A (p.Glu921Lys) rs730880759
NM_000257.4(MYH7):c.2782G>A (p.Asp928Asn) rs727503252
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) rs397516171
NM_000257.4(MYH7):c.2863G>A (p.Asp955Asn) rs886039204
NM_000257.4(MYH7):c.2886del (p.Val964fs) rs886038901
NM_000257.4(MYH7):c.323G>A (p.Arg108His) rs730880832
NM_000257.4(MYH7):c.3346G>A (p.Glu1116Lys) rs727504274
NM_000257.4(MYH7):c.4144C>T (p.Arg1382Trp) rs730880910
NM_000257.4(MYH7):c.427C>G (p.Arg143Gly) rs727503278
NM_000257.4(MYH7):c.438G>C (p.Lys146Asn) rs397516212
NM_000257.4(MYH7):c.4402G>A (p.Glu1468Lys) rs876657884
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp) rs45544633
NM_000257.4(MYH7):c.4844AGA[2] (p.Lys1617del) rs121913648
NM_000257.4(MYH7):c.5134C>T (p.Arg1712Trp) rs121913650
NM_000257.4(MYH7):c.596C>A (p.Ala199Glu)
NM_000257.4(MYH7):c.596C>T (p.Ala199Val) rs727504283
NM_000257.4(MYH7):c.611G>T (p.Arg204Leu) rs397516260
NM_000257.4(MYH7):c.646C>G (p.Leu216Val) rs772488436
NM_000257.4(MYH7):c.652G>T (p.Asp218Tyr) rs1595089520
NM_000257.4(MYH7):c.676G>A (p.Ala226Thr) rs1057517773
NM_000257.4(MYH7):c.677C>T (p.Ala226Val) rs876657887
NM_000257.4(MYH7):c.728G>A (p.Arg243His) rs267606910
NM_000257.4(MYH7):c.732+1G>A rs730880850
NM_000257.4(MYH7):c.739T>C (p.Phe247Leu) rs727503276
NM_000257.4(MYH7):c.741C>A (p.Phe247Leu) rs1566537070
NM_000257.4(MYH7):c.746G>T (p.Arg249Leu) rs3218713
NM_000257.4(MYH7):c.815G>C (p.Arg272Thr) rs1555338578
NM_000257.4(MYH7):c.842G>C (p.Arg281Thr) rs730880856
NM_000257.4(MYH7):c.895+1G>A rs111547156
NM_000258.3(MYL3):c.445A>G (p.Met149Val) rs104893748
NM_000335.5(SCN5A):c.1046A>G (p.Asp349Gly)
NM_000335.5(SCN5A):c.1051_1058dup (p.Ser354fs) rs2471767329
NM_000335.5(SCN5A):c.2023+1G>A rs1553703211
NM_000335.5(SCN5A):c.2437-1G>C rs2471678625
NM_000335.5(SCN5A):c.2632C>T (p.Arg878Cys) rs199473168
NM_000335.5(SCN5A):c.2729C>T (p.Ser910Leu) rs199473175
NM_000335.5(SCN5A):c.2788-2del rs2471660795
NM_000335.5(SCN5A):c.2968C>T (p.Gln990Ter) rs1553699747
NM_000335.5(SCN5A):c.3509-1G>C rs1553698563
NM_000335.5(SCN5A):c.361C>T (p.Arg121Trp) rs199473556
NM_000335.5(SCN5A):c.362G>A (p.Arg121Gln) rs199473058
NM_000335.5(SCN5A):c.3670G>A (p.Glu1224Lys) rs199473204
NM_000335.5(SCN5A):c.3822C>A (p.Asp1274Glu)
NM_000335.5(SCN5A):c.3914G>T (p.Arg1305Leu) rs730880207
NM_000335.5(SCN5A):c.3960+1G>A rs483353016
NM_000335.5(SCN5A):c.3971A>G (p.Asn1324Ser) rs28937317
NM_000335.5(SCN5A):c.4027T>C (p.Phe1343Leu) rs199473228
NM_000335.5(SCN5A):c.4134CAA[1] (p.Asn1379del) rs794728922
NM_000335.5(SCN5A):c.4242+1G>T rs794728879
NM_000335.5(SCN5A):c.4243-2del rs794728943
NM_000335.5(SCN5A):c.4296+1G>T rs2061175467
NM_000335.5(SCN5A):c.4296+1del rs1450434935
NM_000335.5(SCN5A):c.4318G>C (p.Glu1440Gln) rs199473249
NM_000335.5(SCN5A):c.4490T>C (p.Met1497Thr) rs199473263
NM_000335.5(SCN5A):c.4504T>C (p.Ser1502Pro) rs199473342
NM_000335.5(SCN5A):c.4716C>T (p.Gly1572=) rs754221948
NM_000335.5(SCN5A):c.4717G>A (p.Glu1573Lys) rs199473620
NM_000335.5(SCN5A):c.482+1G>C rs2471848000
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000335.5(SCN5A):c.4892G>T (p.Arg1631Leu) rs199473286
NM_000335.5(SCN5A):c.4996G>A (p.Val1666Ile) rs199473293
NM_000335.5(SCN5A):c.5250del (p.Phe1751fs)
NM_000335.5(SCN5A):c.5263ATC[2] (p.Ile1757del) rs1575705549
NM_000335.5(SCN5A):c.5283C>G (p.Ile1761Met) rs375323548
NM_000335.5(SCN5A):c.5381_5382del (p.Phe1793_Tyr1794insTer) rs1559720870
NM_000335.5(SCN5A):c.5414_5417del (p.Thr1805fs) rs1060501127
NM_000335.5(SCN5A):c.5458_5459del (p.Leu1820fs) rs1553692660
NM_000335.5(SCN5A):c.5461_5464del (p.Glu1822fs) rs794728924
NM_000335.5(SCN5A):c.5466del (p.Glu1822fs)
NM_000335.5(SCN5A):c.94C>T (p.Gln32Ter) rs2062567690
NM_000335.5(SCN5A):c.998+1G>T rs1167495153
NM_000335.5(SCN5A):c.999-1G>A rs2125906068
NM_000363.5(TNNI3):c.204del (p.Arg69fs) rs727504872
NM_000363.5(TNNI3):c.407G>A (p.Arg136Gln) rs730881069
NM_000363.5(TNNI3):c.414G>C (p.Lys138Asn)
NM_000363.5(TNNI3):c.470C>T (p.Ala157Val) rs397516353
NM_000363.5(TNNI3):c.485G>C (p.Arg162Pro) rs397516354
NM_000363.5(TNNI3):c.509G>A (p.Arg170Gln) rs727503503
NM_000363.5(TNNI3):c.529AAG[1] (p.Lys178del) rs397516351
NM_000363.5(TNNI3):c.595A>T (p.Ser199Cys) rs2085696801
NM_000363.5(TNNI3):c.596G>A (p.Ser199Asn) rs730881091
NM_000371.4(TTR):c.116C>A (p.Ala39Asp) rs11541795
NM_000371.4(TTR):c.128G>A (p.Ser43Asn) rs1598844112
NM_000371.4(TTR):c.133G>T (p.Ala45Ser) rs104894664
NM_000371.4(TTR):c.155T>C (p.Val52Ala) rs2073493951
NM_000371.4(TTR):c.172G>C (p.Asp58His) rs2073494217
NM_000371.4(TTR):c.179C>A (p.Thr60Asn) rs113625622
NM_000371.4(TTR):c.191T>C (p.Phe64Ser) rs104894665
NM_000371.4(TTR):c.194C>T (p.Ala65Val) rs730881169
NM_000371.4(TTR):c.220G>C (p.Glu74Gln) rs1555631393
NM_000371.4(TTR):c.220_221delinsCT (p.Glu74Leu) rs730881168
NM_000371.4(TTR):c.220_221inv (p.Glu74Ser)
NM_000371.4(TTR):c.241G>A (p.Glu81Lys) rs121918086
NM_000371.4(TTR):c.242A>C (p.Glu81Ala) rs1567946170
NM_000371.4(TTR):c.242A>G (p.Glu81Gly) rs1567946170
NM_000371.4(TTR):c.244G>A (p.Glu82Lys) rs1555631402
NM_000371.4(TTR):c.265T>C (p.Tyr89His) rs121918100
NM_000371.4(TTR):c.302C>T (p.Ala101Val) rs1555631417
NM_000371.4(TTR):c.311T>C (p.Ile104Thr) rs121918072
NM_000371.4(TTR):c.326A>T (p.Glu109Val) rs2073511444
NM_000371.4(TTR):c.381T>G (p.Ile127Met) rs751430411
NM_000371.4(TTR):c.391C>A (p.Leu131Met) rs121918073
NM_000371.4(TTR):c.418G>T (p.Ala140Ser) rs876658108
NM_000384.3(APOB):c.149G>A (p.Arg50Gln) rs1465696669
NM_000384.3(APOB):c.237+1G>A
NM_000432.4(MYL2):c.119G>A (p.Arg40Lys) rs727503299
NM_000432.4(MYL2):c.497A>T (p.Asp166Val) rs199474815
NM_000432.4(MYL2):c.52T>C (p.Phe18Leu) rs104894370
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys) rs104894368
NM_000527.4:c.2462_2463insALU
NM_000527.5(LDLR):c.-135C>G rs879254375
NM_000527.5(LDLR):c.1004G>T (p.Gly335Val) rs869320650
NM_000527.5(LDLR):c.1016T>C (p.Leu339Pro) rs879254756
NM_000527.5(LDLR):c.1019_1020delinsTG (p.Cys340Leu) rs879254758
NM_000527.5(LDLR):c.1028G>A (p.Gly343Asp) rs879254760
NM_000527.5(LDLR):c.1054T>A (p.Cys352Ser) rs879254769
NM_000527.5(LDLR):c.1061A>C (p.Asp354Ala) rs755449669
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly) rs755449669
NM_000527.5(LDLR):c.1066G>T (p.Asp356Tyr) rs767767730
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys) rs879254781
NM_000527.5(LDLR):c.1072T>G (p.Cys358Gly) rs879254783
NM_000527.5(LDLR):c.1073G>A (p.Cys358Tyr) rs875989915
NM_000527.5(LDLR):c.1090T>G (p.Cys364Gly) rs879254787
NM_000527.5(LDLR):c.1091G>A (p.Cys364Tyr) rs879254788
NM_000527.5(LDLR):c.1108A>T (p.Asn370Tyr)
NM_000527.5(LDLR):c.1109A>C (p.Asn370Thr) rs879254792
NM_000527.5(LDLR):c.1145G>T (p.Gly382Val) rs752951310
NM_000527.5(LDLR):c.1174T>A (p.Cys392Ser) rs879254814
NM_000527.5(LDLR):c.1177A>G (p.Lys393Glu) rs1060499921
NM_000527.5(LDLR):c.1208T>C (p.Phe403Ser) rs2516003230
NM_000527.5(LDLR):c.1223A>T (p.Glu408Val) rs879254838
NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys) rs869320651
NM_000527.5(LDLR):c.1277T>G (p.Leu426Arg) rs879254851
NM_000527.5(LDLR):c.1284C>G (p.Asn428Lys) rs368708058
NM_000527.5(LDLR):c.1299_1304del (p.Asp433_Thr434del) rs2516004003
NM_000527.5(LDLR):c.1300A>C (p.Thr434Pro) rs1555805237
NM_000527.5(LDLR):c.1304_1307delinsTGGC (p.Glu435_Val436delinsValAla) rs2516004084
NM_000527.5(LDLR):c.1307T>A (p.Val436Glu) rs779732323
NM_000527.5(LDLR):c.1322T>G (p.Ile441Ser) rs879254862
NM_000527.5(LDLR):c.1324T>C (p.Tyr442His) rs879254863
NM_000527.5(LDLR):c.1325A>G (p.Tyr442Cys) rs879254864
NM_000527.5(LDLR):c.1359-31_1359-23delinsCGGCT rs879254876
NM_000527.5(LDLR):c.1432G>T (p.Gly478Trp) rs144614838
NM_000527.5(LDLR):c.1470G>C (p.Trp490Cys) rs879254915
NM_000527.5(LDLR):c.1502C>A (p.Ala501Glu) rs755667663
NM_000527.5(LDLR):c.1525A>G (p.Lys509Glu) rs879254931
NM_000527.5(LDLR):c.1567G>C (p.Val523Leu) rs28942080
NM_000527.5(LDLR):c.1577C>A (p.Pro526His) rs879254944
NM_000527.5(LDLR):c.1586+5G>A rs781362878
NM_000527.5(LDLR):c.1587-3C>G rs2512412601
NM_000527.5(LDLR):c.1693G>C (p.Gly565Arg) rs1344561983
NM_000527.5(LDLR):c.1694G>C (p.Gly565Ala) rs28942082
NM_000527.5(LDLR):c.1702C>G (p.Leu568Val) rs746959386
NM_000527.5(LDLR):c.1721G>A (p.Arg574His) rs777188764
NM_000527.5(LDLR):c.1724T>C (p.Leu575Pro) rs1249568272
NM_000527.5(LDLR):c.1739C>T (p.Ser580Phe) rs934496989
NM_000527.5(LDLR):c.1774G>A (p.Gly592Arg) rs763147599
NM_000527.5(LDLR):c.1775G>T (p.Gly592Val) rs137929307
NM_000527.5(LDLR):c.1796T>C (p.Leu599Ser) rs879255025
NM_000527.5(LDLR):c.1814T>C (p.Leu605Pro) rs875989932
NM_000527.5(LDLR):c.1823C>T (p.Pro608Leu) rs879255035
NM_000527.5(LDLR):c.1829C>T (p.Ser610Phe) rs879255038
NM_000527.5(LDLR):c.1833G>T (p.Leu611Phe) rs879255041
NM_000527.5(LDLR):c.1853T>G (p.Val618Gly) rs1057519677
NM_000527.5(LDLR):c.1855T>C (p.Phe619Leu) rs747134711
NM_000527.5(LDLR):c.1880C>T (p.Ala627Val) rs875989934
NM_000527.5(LDLR):c.188G>A (p.Cys63Tyr) rs879254427
NM_000527.5(LDLR):c.190+5G>A rs1131692190
NM_000527.5(LDLR):c.1916T>A (p.Val639Asp) rs794728584
NM_000527.5(LDLR):c.1955T>C (p.Met652Thr) rs875989936
NM_000527.5(LDLR):c.1987+2T>G rs1600742966
NM_000527.5(LDLR):c.1988-2A>G rs879255101
NM_000527.5(LDLR):c.2000G>T (p.Cys667Phe) rs28942083
NM_000527.5(LDLR):c.2026G>A (p.Gly676Ser) rs745753810
NM_000527.5(LDLR):c.2042G>A (p.Cys681Tyr) rs201637900
NM_000527.5(LDLR):c.2054C>G (p.Pro685Arg) rs28942084
NM_000527.5(LDLR):c.2086T>A (p.Cys696Ser) rs1555807435
NM_000527.5(LDLR):c.2086T>G (p.Cys696Gly) rs1555807435
NM_000527.5(LDLR):c.2087G>T (p.Cys696Phe) rs879255134
NM_000527.5(LDLR):c.2120A>T (p.Asp707Val) rs879255143
NM_000527.5(LDLR):c.224G>A (p.Cys75Tyr) rs875989890
NM_000527.5(LDLR):c.2312-2A>C rs2077660035
NM_000527.5(LDLR):c.2389+1G>A rs879255186
NM_000527.5(LDLR):c.2389G>C (p.Val797Leu) rs750518671
NM_000527.5(LDLR):c.2396T>G (p.Leu799Arg) rs879255196
NM_000527.5(LDLR):c.2412G>A (p.Leu804=) rs2077686564
NM_000527.5(LDLR):c.245G>A (p.Cys82Tyr) rs879254448
NM_000527.5(LDLR):c.246C>G (p.Cys82Trp) rs875989891
NM_000527.5(LDLR):c.2473_2475del (p.Asn825del) rs2512461322
NM_000527.5(LDLR):c.2476C>A (p.Pro826Thr) rs879255217
NM_000527.5(LDLR):c.257_265del (p.Phe86_Arg88del) rs879254451
NM_000527.5(LDLR):c.28T>C (p.Trp10Arg) rs879254386
NM_000527.5(LDLR):c.298G>A (p.Asp100Asn) rs879254459
NM_000527.5(LDLR):c.302A>C (p.Glu101Ala) rs2077233012
NM_000527.5(LDLR):c.302A>G (p.Glu101Gly) rs2077233012
NM_000527.5(LDLR):c.313+4_313+16del rs1555802822
NM_000527.5(LDLR):c.313+5G>A rs879254467
NM_000527.5(LDLR):c.313+6T>G rs879254468
NM_000527.5(LDLR):c.326G>A (p.Cys109Tyr) rs121908042
NM_000527.5(LDLR):c.361T>C (p.Cys121Arg) rs879254492
NM_000527.5(LDLR):c.362G>A (p.Cys121Tyr) rs193922571
NM_000527.5(LDLR):c.440C>T (p.Thr147Ile) rs879254524
NM_000527.5(LDLR):c.463T>C (p.Cys155Arg) rs879254535
NM_000527.5(LDLR):c.464G>T (p.Cys155Phe) rs879254536
NM_000527.5(LDLR):c.479G>C (p.Cys160Ser) rs879254541
NM_000527.5(LDLR):c.479G>T (p.Cys160Phe) rs879254541
NM_000527.5(LDLR):c.515A>C (p.Asp172Ala) rs879254555
NM_000527.5(LDLR):c.515A>G (p.Asp172Gly) rs879254555
NM_000527.5(LDLR):c.516C>G (p.Asp172Glu) rs879254557
NM_000527.5(LDLR):c.530C>G (p.Ser177Trp) rs121908026
NM_000527.5(LDLR):c.533A>G (p.Asp178Gly) rs875989902
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.5(LDLR):c.611G>T (p.Cys204Phe) rs879254592
NM_000527.5(LDLR):c.622G>A (p.Glu208Lys) rs879254597
NM_000527.5(LDLR):c.646T>C (p.Cys216Arg) rs879254610
NM_000527.5(LDLR):c.647G>A (p.Cys216Tyr) rs879254611
NM_000527.5(LDLR):c.665_679dup (p.Ser226_Asp227insGlyLysAspLysSer) rs2515968704
NM_000527.5(LDLR):c.670G>C (p.Asp224His) rs387906303
NM_000527.5(LDLR):c.677C>T (p.Ser226Phe) rs879254636
NM_000527.5(LDLR):c.683_694del (p.Glu228_Cys231del) rs1064792905
NM_000527.5(LDLR):c.781T>A (p.Cys261Ser) rs1372739823
NM_000527.5(LDLR):c.797A>G (p.Asp266Gly) rs879254678
NM_000527.5(LDLR):c.79T>C (p.Cys27Arg) rs1555802245
NM_000527.5(LDLR):c.827G>A (p.Cys276Tyr) rs730882089
NM_000527.5(LDLR):c.851G>A (p.Cys284Tyr) rs879254694
NM_000527.5(LDLR):c.851G>T (p.Cys284Phe) rs879254694
NM_000527.5(LDLR):c.865T>C (p.Cys289Arg) rs879254697
NM_000527.5(LDLR):c.887G>A (p.Cys296Tyr) rs879254707
NM_000527.5(LDLR):c.888C>G (p.Cys296Trp) rs879254708
NM_000527.5(LDLR):c.910G>C (p.Asp304His) rs121908030
NM_000527.5(LDLR):c.937T>G (p.Cys313Gly) rs879254728
NM_000527.5(LDLR):c.939C>G (p.Cys313Trp) rs13306512
NM_000527.5(LDLR):c.940+2T>A rs875989912
NM_000527.5(LDLR):c.941-12G>A rs879254734
NM_000527.5(LDLR):c.941-2A>C rs112366278
NM_000527.5(LDLR):c.953G>A (p.Cys318Tyr) rs879254739
NM_000527.5(LDLR):c.974G>C (p.Cys325Ser) rs879254746
NM_000527.5(LDLR):c.974G>T (p.Cys325Phe) rs879254746
NM_000719.7(CACNA1C):c.1609A>G (p.Asn537Asp) rs1467561684
NM_000719.7(CACNA1C):c.2317_2319del (p.Lys773del) rs786205771
NM_000719.7(CACNA1C):c.2567G>A (p.Gly856Asp)
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His) rs786205753
NM_000719.7(CACNA1C):c.2578C>G (p.Arg860Gly) rs758786846
NM_000719.7(CACNA1C):c.3631A>G (p.Lys1211Glu) rs786205759
NM_000719.7(CACNA1C):c.971G>A (p.Arg324Gln) rs2099740070
NM_000891.3(KCNJ2):c.155G>T (p.Gly52Val) rs1555603894
NM_000891.3(KCNJ2):c.224C>T (p.Thr75Met) rs104894585
NM_000891.3(KCNJ2):c.425C>T (p.Thr142Ile) rs2509921093
NM_000891.3(KCNJ2):c.919A>G (p.Met307Val) rs1555603994
NM_000891.3(KCNJ2):c.934C>T (p.Arg312Cys) rs199473389
NM_001005242.3(PKP2):c.1034+1G>C rs869025496
NM_001005242.3(PKP2):c.1746T>G (p.Tyr582Ter)
NM_001005242.3(PKP2):c.2167+1G>A rs794729116
NM_001005242.3(PKP2):c.2167+1G>T rs794729116
NM_001005242.3(PKP2):c.224-1639_274del
NM_001005242.3(PKP2):c.2287dup (p.Tyr763fs)
NM_001005242.3(PKP2):c.2385del (p.Ala796fs) rs2541184876
NM_001005242.3(PKP2):c.626del (p.Ser209fs)
NM_001010874.5(TECRL):c.435+1_435+97del
NM_001010874.5(TECRL):c.436-2A>G rs2476098889
NM_001010874.5(TECRL):c.658-2A>G
NM_001010874.5(TECRL):c.809TGT[1] (p.Leu271del) rs764174354
NM_001010874.5(TECRL):c.833-1G>C rs763631876
NM_001018005.2(TPM1):c.160G>A (p.Glu54Lys) rs104894505
NM_001018005.2(TPM1):c.184G>C (p.Glu62Gln) rs199476305
NM_001018005.2(TPM1):c.284T>C (p.Val95Ala) rs104894504
NM_001018005.2(TPM1):c.337C>G (p.Leu113Val) rs397516369
NM_001018005.2(TPM1):c.389T>C (p.Ile130Thr) rs727503517
NM_001018005.2(TPM1):c.460A>G (p.Ile154Val) rs1555408679
NM_001018005.2(TPM1):c.461T>C (p.Ile154Thr)
NM_001018005.2(TPM1):c.515T>C (p.Ile172Thr) rs199476312
NM_001018005.2(TPM1):c.533G>A (p.Arg178His) rs397516375
NM_001018005.2(TPM1):c.560A>T (p.Glu187Val) rs786204411
NM_001018005.2(TPM1):c.615G>T (p.Lys205Asn)
NM_001018005.2(TPM1):c.725C>T (p.Ala242Val) rs397516387
NM_001035.2:c.(1708+1_1709-1)_(14904_?)del
NM_001035.3(RYR2):c.1007A>G (p.Glu336Gly) rs1553453324
NM_001035.3(RYR2):c.1153G>A (p.Gly385Arg) rs1553453398
NM_001035.3(RYR2):c.11623G>A (p.Val3875Ile) rs1060500137
NM_001035.3(RYR2):c.1172C>A (p.Ala391Asp) rs374306538
NM_001035.3(RYR2):c.12301C>T (p.Leu4101Phe) rs794728785
NM_001035.3(RYR2):c.12325A>G (p.Met4109Val) rs730880196
NM_001035.3(RYR2):c.12344T>G (p.Leu4115Arg) rs2527781764
NM_001035.3(RYR2):c.12419G>C (p.Gly4140Ala) rs2527783445
NM_001035.3(RYR2):c.12446A>G (p.Tyr4149Cys) rs1234449785
NM_001035.3(RYR2):c.12533A>G (p.Asn4178Ser) rs794728787
NM_001035.3(RYR2):c.12544G>C (p.Glu4182Gln) rs397516508
NM_001035.3(RYR2):c.1372G>A (p.Asp458Asn) rs1553458124
NM_001035.3(RYR2):c.14147A>G (p.Asp4716Gly)
NM_001035.3(RYR2):c.14251A>C (p.Lys4751Gln) rs794728802
NM_001035.3(RYR2):c.14311G>T (p.Val4771Phe) rs794728804
NM_001035.3(RYR2):c.14528G>T (p.Arg4843Leu)
NM_001035.3(RYR2):c.14861C>G (p.Ala4954Gly) rs1663930286
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001035.3(RYR2):c.1641C>A (p.Asn547Lys) rs794728722
NM_001035.3(RYR2):c.230C>T (p.Ala77Val) rs1060500142
NM_001035.3(RYR2):c.505C>G (p.Arg169Gly) rs749930577
NM_001035.3(RYR2):c.506G>T (p.Arg169Leu) rs397516539
NM_001035.3(RYR2):c.5170G>A (p.Glu1724Lys) rs794728740
NM_001035.3(RYR2):c.527G>T (p.Arg176Leu) rs794728708
NM_001035.3(RYR2):c.6649C>T (p.His2217Tyr) rs1372052481
NM_001035.3(RYR2):c.7024G>A (p.Gly2342Arg) rs1553263907
NM_001035.3(RYR2):c.7159G>A (p.Ala2387Thr) rs794728753
NM_001035.3(RYR2):c.7160C>T (p.Ala2387Val) rs794728754
NM_001035.3(RYR2):c.7202G>A (p.Arg2401His) rs794728756
NM_001035.3(RYR2):c.7400C>T (p.Ala2467Val)
NM_001077653.2(TBX20):c.130C>T (p.Gln44Ter) rs2546997554
NM_001077653.2(TBX20):c.139G>T (p.Glu47Ter) rs2546997545
NM_001077653.2(TBX20):c.205G>T (p.Gly69Ter) rs1790276091
NM_001077653.2(TBX20):c.418dup (p.Val140fs) rs1562567739
NM_001077653.2(TBX20):c.697dup (p.Ile233fs) rs2128714664
NM_001079802.2(FKTN):c.1176C>A (p.Tyr392Ter) rs1203741361
NM_001079802.2(FKTN):c.1261_1286delinsACC (p.Ala421fs) rs1588315166
NM_001103.4(ACTN2):c.355G>A (p.Ala119Thr) rs727502886
NM_001103.4(ACTN2):c.683T>C (p.Met228Thr) rs786205144
NM_001110556.2(FLNA):c.4776del (p.Lys1593fs)
NM_001114753.3(ENG):c.1109T>C (p.Leu370Pro) rs1830547696
NM_001114753.3(ENG):c.1120A>G (p.Lys374Glu) rs2539070821
NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser) rs2131885751
NM_001114753.3(ENG):c.1134+1G>T rs112809381
NM_001114753.3(ENG):c.1145G>A (p.Cys382Tyr) rs1131691931
NM_001114753.3(ENG):c.1146C>G (p.Cys382Trp) rs2539064456
NM_001114753.3(ENG):c.1208T>C (p.Phe403Ser) rs1830433526
NM_001114753.3(ENG):c.1235G>A (p.Cys412Tyr) rs1554809513
NM_001114753.3(ENG):c.1268A>G (p.Asn423Ser) rs1830431553
NM_001114753.3(ENG):c.1310G>C (p.Arg437Pro) rs989537576
NM_001114753.3(ENG):c.1312-2A>G rs2539061224
NM_001114753.3(ENG):c.1319T>G (p.Val440Gly) rs1554809363
NM_001114753.3(ENG):c.1429-2del rs2539059977
NM_001114753.3(ENG):c.1469T>C (p.Leu490Ser) rs763475207
NM_001114753.3(ENG):c.1517T>C (p.Leu506Pro) rs778594104
NM_001114753.3(ENG):c.1559T>C (p.Leu520Pro) rs2131875808
NM_001114753.3(ENG):c.155G>A (p.Gly52Asp) rs1564462765
NM_001114753.3(ENG):c.157T>C (p.Cys53Arg) rs2539107399
NM_001114753.3(ENG):c.1686+1G>C rs1554809228
NM_001114753.3(ENG):c.1687-1G>A rs1554809106
NM_001114753.3(ENG):c.1733_1737del (p.Asp578fs) rs2539056673
NM_001114753.3(ENG):c.219+2T>C rs2131918332
NM_001114753.3(ENG):c.219G>A (p.Thr73=) rs755348996
NM_001114753.3(ENG):c.360+4A>G rs1564457752
NM_001114753.3(ENG):c.360+5G>A rs1060501417
NM_001114753.3(ENG):c.503TCC[2] (p.Leu170del) rs1830619692
NM_001114753.3(ENG):c.506T>C (p.Leu169Pro) rs2539077645
NM_001114753.3(ENG):c.512G>C (p.Arg171Pro) rs756980265
NM_001114753.3(ENG):c.523+1G>A rs113930974
NM_001114753.3(ENG):c.523+5G>C rs2539077593
NM_001114753.3(ENG):c.545G>A (p.Cys182Tyr) rs1370852588
NM_001114753.3(ENG):c.569T>A (p.Met190Lys) rs1830602163
NM_001114753.3(ENG):c.586T>C (p.Trp196Arg) rs2131889336
NM_001114753.3(ENG):c.614G>C (p.Arg205Pro) rs751778614
NM_001114753.3(ENG):c.619T>C (p.Cys207Arg) rs2131889169
NM_001114753.3(ENG):c.659T>C (p.Ile220Thr) rs1588582695
NM_001114753.3(ENG):c.662T>C (p.Leu221Pro) rs1554810378
NM_001114753.3(ENG):c.67+2T>C rs2131936480
NM_001114753.3(ENG):c.694_699del (p.Arg232_Thr233del) rs2131888057
NM_001114753.3(ENG):c.787_789del (p.Ile263del) rs1830579035
NM_001114753.3(ENG):c.816+5G>C rs2539073850
NM_001114753.3(ENG):c.832T>C (p.Ser278Pro) rs2539073270
NM_001114753.3(ENG):c.899T>C (p.Leu300Pro) rs1335718486
NM_001114753.3(ENG):c.917T>C (p.Leu306Pro) rs2539072930
NM_001114753.3(ENG):c.95T>A (p.Leu32His) rs2539107650
NM_001127464.2(ZNF469):c.7554del (p.Ser2519Alafs) rs886039575
NM_001134363.2:c.(1800+1_1801-1)_(3451+1_3452-1)del
NM_001134363.3(RBM20):c.1901G>T (p.Arg634Leu) rs267607001
NM_001134363.3(RBM20):c.1909A>G (p.Ser637Gly) rs267607005
NM_001134363.3(RBM20):c.39del (p.Ser14fs)
NM_001159699.2(FHL1):c.146_155del (p.Asp49fs)
NM_001232.4(CASQ2):c.235-2A>G rs1060502164
NM_001232.4(CASQ2):c.319+2T>G rs2526031776
NM_001232.4(CASQ2):c.381C>T (p.Gly127=) rs775663612
NM_001232.4(CASQ2):c.533-2A>G
NM_001232.4(CASQ2):c.606+1G>T
NM_001232.4(CASQ2):c.925del (p.Asp309fs) rs2464840483
NM_001232.4(CASQ2):c.939+5G>C rs746128346
NM_001267550.1(TTN):c.106531+2T>A rs878854373
NM_001267550.2(TTN):c.100433G>A (p.Trp33478Ter)
NM_001267550.2(TTN):c.100693_100696dup (p.Thr33566fs)
NM_001267550.2(TTN):c.100704C>A (p.Tyr33568Ter) rs1553501227
NM_001267550.2(TTN):c.100742dup (p.Thr33582fs) rs2468602856
NM_001267550.2(TTN):c.100825C>T (p.Arg33609Ter) rs1057518195
NM_001267550.2(TTN):c.101056_101060delinsATGA (p.Val33686fs)
NM_001267550.2(TTN):c.101098delinsCT (p.Asp33700fs) rs794729367
NM_001267550.2(TTN):c.101129G>A (p.Trp33710Ter) rs2468576682
NM_001267550.2(TTN):c.10131G>A (p.Trp3377Ter) rs2531939450
NM_001267550.2(TTN):c.101728G>T (p.Glu33910Ter) rs943777958
NM_001267550.2(TTN):c.101789del (p.Leu33930fs) rs1575285509
NM_001267550.2(TTN):c.101884C>T (p.Gln33962Ter)
NM_001267550.2(TTN):c.101953G>T (p.Glu33985Ter) rs534613934
NM_001267550.2(TTN):c.101992_101993del (p.Met33998fs) rs1690631284
NM_001267550.2(TTN):c.101997G>A (p.Trp33999Ter) rs764821435
NM_001267550.2(TTN):c.102057del (p.Asn34020fs) rs1690605753
NM_001267550.2(TTN):c.102096_102097del (p.Thr34033fs)
NM_001267550.2(TTN):c.10219del (p.Tyr3407fs) rs2531935860
NM_001267550.2(TTN):c.102234_102235del (p.Arg34079fs) rs2468533193
NM_001267550.2(TTN):c.102234_102237del (p.Arg34079fs) rs754731686
NM_001267550.2(TTN):c.102352C>T (p.Arg34118Ter) rs1212204584
NM_001267550.2(TTN):c.102523C>T (p.Arg34175Ter) rs752697861
NM_001267550.2(TTN):c.102585T>A (p.Tyr34195Ter) rs1690344942
NM_001267550.2(TTN):c.102766del (p.Arg34256fs) rs2468510942
NM_001267550.2(TTN):c.102842dup (p.Thr34282fs) rs2468507391
NM_001267550.2(TTN):c.102876_102877delinsAT (p.Tyr34292_Lys34293delinsTer) rs2468505868
NM_001267550.2(TTN):c.103117_103124del (p.Glu34373fs) rs2468495794
NM_001267550.2(TTN):c.103184_103185dup (p.Trp34396fs)
NM_001267550.2(TTN):c.103303del (p.Arg34435fs) rs2468488044
NM_001267550.2(TTN):c.103322_103323dup (p.Ala34442fs) rs2468486894
NM_001267550.2(TTN):c.103705A>T (p.Lys34569Ter) rs1553490574
NM_001267550.2(TTN):c.103730del (p.Gln34577fs) rs2468469410
NM_001267550.2(TTN):c.103758_103759del (p.Arg34586fs) rs1689777278
NM_001267550.2(TTN):c.103845C>G (p.Tyr34615Ter) rs2154134580
NM_001267550.2(TTN):c.103846_103849dup (p.Pro34617fs) rs2154134575
NM_001267550.2(TTN):c.104069del (p.Gly34690fs) rs2154134397
NM_001267550.2(TTN):c.104087del (p.Pro34696fs) rs1553489404
NM_001267550.2(TTN):c.104170_104174del (p.Lys34724fs) rs2154134297
NM_001267550.2(TTN):c.104197dup (p.Ile34733fs) rs2468451119
NM_001267550.2(TTN):c.104265C>G (p.Tyr34755Ter) rs756003817
NM_001267550.2(TTN):c.104393del (p.Lys34798fs) rs2468441688
NM_001267550.2(TTN):c.104418_104419del (p.Glu34808fs) rs1181631215
NM_001267550.2(TTN):c.104515C>T (p.Arg34839Ter) rs1553488049
NM_001267550.2(TTN):c.104573del (p.Ile34858fs) rs1689352168
NM_001267550.2(TTN):c.104753T>A (p.Leu34918Ter) rs2468426201
NM_001267550.2(TTN):c.104924G>A (p.Trp34975Ter) rs1181086213
NM_001267550.2(TTN):c.104941G>T (p.Glu34981Ter) rs2468418880
NM_001267550.2(TTN):c.105057_105059del (p.Tyr35019_Lys35020delinsTer)
NM_001267550.2(TTN):c.105161del (p.Pro35054fs) rs1689079381
NM_001267550.2(TTN):c.105190_105191del (p.Val35064fs) rs770878165
NM_001267550.2(TTN):c.105613_105614del (p.Asn35205fs) rs2154133153
NM_001267550.2(TTN):c.105747_105766del (p.Pro35250fs) rs1688812000
NM_001267550.2(TTN):c.105795del (p.Thr35267fs)
NM_001267550.2(TTN):c.106259_106271del (p.Pro35420fs) rs2468365185
NM_001267550.2(TTN):c.106368_106374+6delinsACAAA
NM_001267550.2(TTN):c.106531+1G>A rs760915007
NM_001267550.2(TTN):c.106836_106837del (p.Ser35613fs) rs2468304792
NM_001267550.2(TTN):c.107589del (p.Phe35863fs)
NM_001267550.2(TTN):c.1076_1080del (p.Met359fs) rs2534089825
NM_001267550.2(TTN):c.1118_1121del (p.Glu373fs) rs2534087552
NM_001267550.2(TTN):c.1129G>T (p.Glu377Ter) rs1012350596
NM_001267550.2(TTN):c.11311+1G>T rs1553963537
NM_001267550.2(TTN):c.11722A>T (p.Lys3908Ter) rs2530723915
NM_001267550.2(TTN):c.11831T>A (p.Leu3944Ter) rs2530718128
NM_001267550.2(TTN):c.12217del (p.Thr4073fs)
NM_001267550.2(TTN):c.12268C>T (p.Gln4090Ter) rs1574087037
NM_001267550.2(TTN):c.12316C>T (p.Gln4106Ter) rs1553940122
NM_001267550.2(TTN):c.12405del (p.Asn4135fs) rs727503658
NM_001267550.2(TTN):c.12643_12644del (p.Gln4215fs) rs869312038
NM_001267550.2(TTN):c.12742C>T (p.Gln4248Ter) rs794729308
NM_001267550.2(TTN):c.13102_13105del (p.Lys4368fs) rs1553937967
NM_001267550.2(TTN):c.13168G>T (p.Glu4390Ter)
NM_001267550.2(TTN):c.13174A>T (p.Arg4392Ter) rs2530637215
NM_001267550.2(TTN):c.13181_13182del (p.Asn4394fs) rs2530636896
NM_001267550.2(TTN):c.13192C>T (p.Gln4398Ter) rs868502763
NM_001267550.2(TTN):c.13340C>A (p.Ser4447Ter) rs777547090
NM_001267550.2(TTN):c.13380del (p.Asp4461fs) rs2530626511
NM_001267550.2(TTN):c.133_137delinsC (p.Val45fs)
NM_001267550.2(TTN):c.13525del (p.Ser4509fs) rs1553936898
NM_001267550.2(TTN):c.13697_13701del (p.Gln4566fs) rs2530609590
NM_001267550.2(TTN):c.13729G>T (p.Glu4577Ter) rs755338726
NM_001267550.2(TTN):c.13732G>T (p.Glu4578Ter) rs2530607571
NM_001267550.2(TTN):c.13880_13881del (p.Thr4627fs) rs2530600313
NM_001267550.2(TTN):c.13937C>G (p.Ser4646Ter) rs2530597033
NM_001267550.2(TTN):c.1393G>T (p.Glu465Ter) rs1313233245
NM_001267550.2(TTN):c.13943_13947dup (p.Phe4650fs) rs767038068
NM_001267550.2(TTN):c.14050G>T (p.Gly4684Ter)
NM_001267550.2(TTN):c.14245C>T (p.Arg4749Ter) rs1553934752
NM_001267550.2(TTN):c.14301C>A (p.Cys4767Ter) rs1217230000
NM_001267550.2(TTN):c.2089A>T (p.Lys697Ter) rs1554023044
NM_001267550.2(TTN):c.2137C>T (p.Arg713Ter) rs727505277
NM_001267550.2(TTN):c.229C>T (p.Arg77Ter) rs1347415564
NM_001267550.2(TTN):c.2393_2394del (p.Thr798fs) rs1060500528
NM_001267550.2(TTN):c.2663_2669delinsCTTCAC (p.Asp888fs) rs2093000714
NM_001267550.2(TTN):c.2670C>A (p.Tyr890Ter)
NM_001267550.2(TTN):c.27067C>T (p.Gln9023Ter)
NM_001267550.2(TTN):c.3007dup (p.Arg1003fs) rs1574771625
NM_001267550.2(TTN):c.3034C>T (p.Arg1012Ter) rs397517547
NM_001267550.2(TTN):c.3217C>T (p.Gln1073Ter) rs2092857726
NM_001267550.2(TTN):c.3351dup (p.Ser1118fs) rs2092847994
NM_001267550.2(TTN):c.35044G>T (p.Glu11682Ter)
NM_001267550.2(TTN):c.3850del (p.Ser1284fs)
NM_001267550.2(TTN):c.3939del (p.Met1314fs) rs2533093966
NM_001267550.2(TTN):c.3976A>T (p.Lys1326Ter)
NM_001267550.2(TTN):c.4008del (p.Arg1336fs) rs2533076634
NM_001267550.2(TTN):c.4027C>T (p.Gln1343Ter) rs727503697
NM_001267550.2(TTN):c.40508T>G (p.Leu13503Ter) rs974323028
NM_001267550.2(TTN):c.40516G>T (p.Glu13506Ter)
NM_001267550.2(TTN):c.40537del (p.Glu13513fs) rs1553756349
NM_001267550.2(TTN):c.40626dup (p.Pro13543fs) rs1553754743
NM_001267550.2(TTN):c.41120_41123del (p.Glu13707fs) rs2060470205
NM_001267550.2(TTN):c.41202del (p.Phe13734fs) rs2471632050
NM_001267550.2(TTN):c.41222_41223del (p.Arg13741fs) rs1436937190
NM_001267550.2(TTN):c.41367dup (p.Val13790fs) rs2471619850
NM_001267550.2(TTN):c.41432del (p.Val13811fs) rs2060408539
NM_001267550.2(TTN):c.41473C>T (p.Arg13825Ter) rs869312043
NM_001267550.2(TTN):c.41483del (p.Pro13828fs) rs876657664
NM_001267550.2(TTN):c.41578del (p.Leu13860fs)
NM_001267550.2(TTN):c.41581G>T (p.Glu13861Ter) rs2154230108
NM_001267550.2(TTN):c.41595C>A (p.Cys13865Ter) rs1336274191
NM_001267550.2(TTN):c.41793C>A (p.Tyr13931Ter) rs794729380
NM_001267550.2(TTN):c.41986C>T (p.Gln13996Ter)
NM_001267550.2(TTN):c.42154del (p.Ile14052fs) rs2471553789
NM_001267550.2(TTN):c.42463G>T (p.Glu14155Ter)
NM_001267550.2(TTN):c.42486_42489del (p.Cys14163fs) rs797046064
NM_001267550.2(TTN):c.42507_42508delinsT (p.Lys14169fs) rs2471527080
NM_001267550.2(TTN):c.4257dup (p.Ala1420fs) rs2532976979
NM_001267550.2(TTN):c.42598_42599insG (p.Met14200fs) rs1553742630
NM_001267550.2(TTN):c.42614_42635delinsCCTTCAGGGGCACAGCAAAGTCAAGG (p.Leu14205fs) rs2471523624
NM_001267550.2(TTN):c.42639dup (p.Gln14214fs) rs2060106818
NM_001267550.2(TTN):c.42728dup (p.Glu14244fs) rs2471515346
NM_001267550.2(TTN):c.42786del (p.Trp14262fs) rs2471513686
NM_001267550.2(TTN):c.42807_42819dup (p.Lys14274fs) rs2471512595
NM_001267550.2(TTN):c.42822del (p.Lys14274fs) rs2060064534
NM_001267550.2(TTN):c.43122del (p.Ile14374_Leu14375insTer) rs1203006457
NM_001267550.2(TTN):c.43141C>T (p.Gln14381Ter) rs754568652
NM_001267550.2(TTN):c.4330G>T (p.Glu1444Ter) rs2532971329
NM_001267550.2(TTN):c.43538del (p.Ser14513fs) rs2471459148
NM_001267550.2(TTN):c.43595del (p.Asn14532fs)
NM_001267550.2(TTN):c.43816C>T (p.Gln14606Ter) rs2471418730
NM_001267550.2(TTN):c.43960C>T (p.Gln14654Ter) rs1463883512
NM_001267550.2(TTN):c.44035C>T (p.Arg14679Ter) rs776970935
NM_001267550.2(TTN):c.44046_44047del (p.His14682fs) rs2471404660
NM_001267550.2(TTN):c.44067_44068del (p.Glu14690fs) rs2471403950
NM_001267550.2(TTN):c.44143del (p.Leu14715fs) rs2471401478
NM_001267550.2(TTN):c.44149del (p.Thr14717fs) rs2471401192
NM_001267550.2(TTN):c.44170_44173del (p.Glu14724fs) rs2471378577
NM_001267550.2(TTN):c.44204dup (p.Asn14735fs)
NM_001267550.2(TTN):c.44281+1G>A rs771562210
NM_001267550.2(TTN):c.44335dup (p.Glu14779fs) rs2059495906
NM_001267550.2(TTN):c.44378del (p.Pro14793fs) rs1064796121
NM_001267550.2(TTN):c.44548+2T>G
NM_001267550.2(TTN):c.44684del (p.Ser14895fs) rs930220089
NM_001267550.2(TTN):c.44831del (p.Phe14944fs) rs2471101614
NM_001267550.2(TTN):c.44840del (p.Pro14947fs) rs2471101226
NM_001267550.2(TTN):c.44878C>T (p.Arg14960Ter) rs2058478213
NM_001267550.2(TTN):c.45009T>A (p.Cys15003Ter) rs2058350211
NM_001267550.2(TTN):c.45100dup (p.Thr15034fs) rs2154212181
NM_001267550.2(TTN):c.45156T>A (p.Cys15052Ter) rs1060500487
NM_001267550.2(TTN):c.45283G>T (p.Glu15095Ter) rs2154212024
NM_001267550.2(TTN):c.45316_45320dup (p.Arg15108fs) rs794729390
NM_001267550.2(TTN):c.45407del (p.Lys15136fs)
NM_001267550.2(TTN):c.45433_45445delinsGG (p.Lys15145fs) rs2471039916
NM_001267550.2(TTN):c.45547_45551del (p.Leu15183fs) rs2471035397
NM_001267550.2(TTN):c.45616G>T (p.Glu15206Ter) rs796314079
NM_001267550.2(TTN):c.45617-1G>C rs2471025366
NM_001267550.2(TTN):c.45758_45764del (p.Tyr15253fs) rs1559873786
NM_001267550.2(TTN):c.45802_45803del (p.Asp15268fs) rs2471019114
NM_001267550.2(TTN):c.45823_45848del (p.Ala15275fs) rs2471017401
NM_001267550.2(TTN):c.4592_4596del (p.Val1531fs) rs1131691910
NM_001267550.2(TTN):c.46337_46338del (p.Arg15446fs) rs2470985498
NM_001267550.2(TTN):c.46344dup (p.Ile15449fs) rs2470985275
NM_001267550.2(TTN):c.46374_46375dup (p.Glu15459fs) rs2154210696
NM_001267550.2(TTN):c.46421_46422del (p.Phe15474fs) rs2470982805
NM_001267550.2(TTN):c.4642G>T (p.Glu1548Ter) rs765316175
NM_001267550.2(TTN):c.46514_46517dup (p.Asp15506fs) rs2470974058
NM_001267550.2(TTN):c.46603C>T (p.Arg15535Ter) rs764654357
NM_001267550.2(TTN):c.46668_46671del (p.Glu15557fs) rs2470968919
NM_001267550.2(TTN):c.47125_47126del (p.Asp15709fs) rs2470897479
NM_001267550.2(TTN):c.4714C>T (p.Arg1572Ter) rs1554008881
NM_001267550.2(TTN):c.47187_47188del (p.Phe15730fs)
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs) rs756433029
NM_001267550.2(TTN):c.47486_47498del (p.Glu15828_Tyr15829insTer) rs2470875483
NM_001267550.2(TTN):c.47487_47488del (p.Tyr15829_Ser15830delinsTer) rs1447249014
NM_001267550.2(TTN):c.47692C>T (p.Arg15898Ter) rs775186117
NM_001267550.2(TTN):c.47697C>A (p.Cys15899Ter) rs373040154
NM_001267550.2(TTN):c.47779G>T (p.Gly15927Ter) rs2057501802
NM_001267550.2(TTN):c.47797A>T (p.Arg15933Ter) rs2057499255
NM_001267550.2(TTN):c.47885dup (p.Met15963fs) rs2057454001
NM_001267550.2(TTN):c.48119del (p.Arg16040fs) rs2470818301
NM_001267550.2(TTN):c.48142del (p.Ile16048fs) rs2470817715
NM_001267550.2(TTN):c.48248_48251del (p.Gly16083fs) rs2470805048
NM_001267550.2(TTN):c.48264del (p.Gly16089fs) rs2154208052
NM_001267550.2(TTN):c.48286G>T (p.Glu16096Ter) rs2470803770
NM_001267550.2(TTN):c.48334del (p.Asp16111_Leu16112insTer) rs2470763679
NM_001267550.2(TTN):c.48499C>T (p.Arg16167Ter) rs1312425985
NM_001267550.2(TTN):c.48502del (p.Thr16168fs) rs2470739291
NM_001267550.2(TTN):c.48629del (p.Ala16210fs) rs2057135958
NM_001267550.2(TTN):c.48638+2T>G rs2470730854
NM_001267550.2(TTN):c.48760G>T (p.Glu16254Ter) rs2470693959
NM_001267550.2(TTN):c.48813del (p.Ala16272fs) rs2470682520
NM_001267550.2(TTN):c.48889_48893del (p.Met16297fs)
NM_001267550.2(TTN):c.49046T>G (p.Leu16349Ter)
NM_001267550.2(TTN):c.49338T>A (p.Tyr16446Ter) rs2470642551
NM_001267550.2(TTN):c.49378dup (p.Ser16460fs) rs2470629154
NM_001267550.2(TTN):c.49500C>A (p.Cys16500Ter) rs754776552
NM_001267550.2(TTN):c.49532+1G>T rs2470620124
NM_001267550.2(TTN):c.49560dup (p.Tyr16521fs) rs2470582888
NM_001267550.2(TTN):c.49586dup (p.Asn16529fs)
NM_001267550.2(TTN):c.49658G>A (p.Trp16553Ter) rs1576441321
NM_001267550.2(TTN):c.49793G>A (p.Trp16598Ter) rs2056613965
NM_001267550.2(TTN):c.49858G>T (p.Glu16620Ter) rs1553699454
NM_001267550.2(TTN):c.4995dup (p.Thr1666fs)
NM_001267550.2(TTN):c.50069del (p.Lys16690fs) rs1064796139
NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter) rs751502842
NM_001267550.2(TTN):c.50134_50137dup (p.Thr16713fs) rs794729321
NM_001267550.2(TTN):c.50162_50163del (p.Tyr16721fs) rs2470536986
NM_001267550.2(TTN):c.50315G>A (p.Trp16772Ter) rs2470522609
NM_001267550.2(TTN):c.50330del (p.Asn16777fs) rs2470522008
NM_001267550.2(TTN):c.50358T>A (p.Tyr16786Ter) rs72677249
NM_001267550.2(TTN):c.50375_50378del (p.Glu16792fs) rs2470513891
NM_001267550.2(TTN):c.50487_50490dup (p.Glu16831delinsLysTer) rs1553696967
NM_001267550.2(TTN):c.50657_50660dup (p.Tyr16887Ter) rs2056330918
NM_001267550.2(TTN):c.50661C>A (p.Tyr16887Ter) rs1553696233
NM_001267550.2(TTN):c.50767G>T (p.Glu16923Ter) rs2470493165
NM_001267550.2(TTN):c.50777_50778insTCTC (p.Arg16927fs)
NM_001267550.2(TTN):c.50859del (p.Asp16952_Cys16953insTer) rs2470483012
NM_001267550.2(TTN):c.50860A>T (p.Lys16954Ter) rs794729268
NM_001267550.2(TTN):c.51060dup (p.Asp17021fs) rs2154199483
NM_001267550.2(TTN):c.51127A>T (p.Lys17043Ter) rs794729269
NM_001267550.2(TTN):c.51129dup (p.Val17044fs) rs2470469852
NM_001267550.2(TTN):c.51203_51224dup (p.Thr17077_Pro17078insSerArgIleTerGlyThr) rs2154198963
NM_001267550.2(TTN):c.51424C>T (p.Gln17142Ter) rs2470424243
NM_001267550.2(TTN):c.51436C>T (p.Gln17146Ter) rs906494713
NM_001267550.2(TTN):c.51444del (p.Asp17149fs) rs1362409861
NM_001267550.2(TTN):c.51459_51462del (p.Asp17153fs) rs886043718
NM_001267550.2(TTN):c.51501_51502delinsCTCCTTTGTAATATGAGGTACCTTTGTAATA (p.Trp17168delinsSerPheValIleTer)
NM_001267550.2(TTN):c.51503G>A (p.Trp17168Ter) rs2470411842
NM_001267550.2(TTN):c.51528del (p.Ser17177fs) rs2470410679
NM_001267550.2(TTN):c.51581G>A (p.Trp17194Ter) rs1553692290
NM_001267550.2(TTN):c.51624_51654dup (p.Gln17219delinsSerLysArgThrTer) rs1553692107
NM_001267550.2(TTN):c.51916_51922del (p.Gly17306fs) rs1553691187
NM_001267550.2(TTN):c.51965dup (p.Leu17322fs) rs2470384677
NM_001267550.2(TTN):c.52041T>A (p.Tyr17347Ter) rs2154198344
NM_001267550.2(TTN):c.52404del (p.Phe17468fs) rs2470347864
NM_001267550.2(TTN):c.52518del (p.Glu17507fs) rs753584634
NM_001267550.2(TTN):c.52576_52603del (p.Asn17525_Ala17526insTer) rs1064792915
NM_001267550.2(TTN):c.52601T>A (p.Leu17534Ter) rs1559746821
NM_001267550.2(TTN):c.52643del (p.Asn17548fs)
NM_001267550.2(TTN):c.5268del (p.Glu1756fs) rs2532881744
NM_001267550.2(TTN):c.52731_52732del (p.Arg17577fs) rs878854315
NM_001267550.2(TTN):c.52847G>A (p.Trp17616Ter) rs2055319182
NM_001267550.2(TTN):c.52975C>T (p.Gln17659Ter) rs2154197188
NM_001267550.2(TTN):c.53026_53027del (p.Val17676fs) rs2470299695
NM_001267550.2(TTN):c.530del (p.Asn177fs)
NM_001267550.2(TTN):c.53288-1G>C rs1553685927
NM_001267550.2(TTN):c.53355G>A (p.Trp17785Ter) rs794729273
NM_001267550.2(TTN):c.53393del (p.Gly17798fs) rs794729324
NM_001267550.2(TTN):c.53412del (p.Asp17805fs) rs2470278474
NM_001267550.2(TTN):c.53535del (p.Cys17845fs) rs2470272884
NM_001267550.2(TTN):c.53543del (p.Pro17848fs) rs2470272284
NM_001267550.2(TTN):c.53599G>T (p.Glu17867Ter) rs1131691381
NM_001267550.2(TTN):c.53616del (p.Glu17873fs) rs2470202207
NM_001267550.2(TTN):c.53649G>A (p.Trp17883Ter) rs774663244
NM_001267550.2(TTN):c.5395dup (p.Ser1799fs) rs1064796474
NM_001267550.2(TTN):c.54023_54024insC (p.Glu18008fs) rs2470175213
NM_001267550.2(TTN):c.5404dup (p.Glu1802fs) rs2532874523
NM_001267550.2(TTN):c.54067C>T (p.Arg18023Ter) rs1553682168
NM_001267550.2(TTN):c.54190+1G>A rs756339648
NM_001267550.2(TTN):c.54259del (p.Asp18087fs) rs2470159760
NM_001267550.2(TTN):c.54320dup (p.Ser18108fs) rs2054384043
NM_001267550.2(TTN):c.54378T>A (p.Tyr18126Ter) rs769624146
NM_001267550.2(TTN):c.54392_54393dup (p.Ile18132fs) rs2054222422
NM_001267550.2(TTN):c.54427del (p.Ala18143fs) rs2470124525
NM_001267550.2(TTN):c.5460_5466delinsAGT (p.Arg1821fs) rs1554007128
NM_001267550.2(TTN):c.54638G>A (p.Trp18213Ter) rs727503602
NM_001267550.2(TTN):c.54811+1G>A rs1205836993
NM_001267550.2(TTN):c.54812-2A>T rs2470055476
NM_001267550.2(TTN):c.54976_54979del (p.Asp18326fs) rs2470049545
NM_001267550.2(TTN):c.54999dup (p.Cys18334fs) rs2470048518
NM_001267550.2(TTN):c.55129_55130insC (p.Glu18377fs) rs2154193431
NM_001267550.2(TTN):c.5513del (p.Lys1838fs) rs1554007001
NM_001267550.2(TTN):c.55269+1G>A rs2470031684
NM_001267550.2(TTN):c.5534T>A (p.Leu1845Ter) rs794729576
NM_001267550.2(TTN):c.55351C>T (p.Arg18451Ter) rs1440093502
NM_001267550.2(TTN):c.55403dup (p.Thr18469fs) rs2470013243
NM_001267550.2(TTN):c.55425dup (p.Val18476fs) rs2470012385
NM_001267550.2(TTN):c.55492del (p.Leu18498fs) rs2470004236
NM_001267550.2(TTN):c.55522G>T (p.Gly18508Ter)
NM_001267550.2(TTN):c.55884_55887del (p.Glu18629fs) rs2154192604
NM_001267550.2(TTN):c.55893G>A (p.Trp18631Ter) rs2154192598
NM_001267550.2(TTN):c.55972C>T (p.Arg18658Ter) rs764985774
NM_001267550.2(TTN):c.56089G>T (p.Glu18697Ter) rs1391010387
NM_001267550.2(TTN):c.56178del (p.Asp18727fs) rs2469906284
NM_001267550.2(TTN):c.56246T>A (p.Leu18749Ter)
NM_001267550.2(TTN):c.56287_56288dup (p.Ile18764fs) rs2469901335
NM_001267550.2(TTN):c.56440_56443del (p.Gly18814fs) rs2469888970
NM_001267550.2(TTN):c.56472_56473del (p.Glu18826fs)
NM_001267550.2(TTN):c.56473del (p.Arg18825fs) rs2469888162
NM_001267550.2(TTN):c.56495G>A (p.Trp18832Ter) rs1576247054
NM_001267550.2(TTN):c.56564_56576del (p.Tyr18855fs) rs1294679653
NM_001267550.2(TTN):c.56598del (p.Ile18867fs) rs1553664644
NM_001267550.2(TTN):c.56641del (p.Leu18881fs) rs2469881916
NM_001267550.2(TTN):c.56648-1G>C
NM_001267550.2(TTN):c.56720del (p.Glu18907fs) rs2469871880
NM_001267550.2(TTN):c.5674del (p.Asp1892fs) rs2154346038
NM_001267550.2(TTN):c.56792G>A (p.Trp18931Ter) rs1060500526
NM_001267550.2(TTN):c.56940_56957delinsT (p.Ala18981fs) rs2469861021
NM_001267550.2(TTN):c.56978dup (p.Phe18994fs) rs2469852440
NM_001267550.2(TTN):c.57057del (p.Lys19019_Val19020insTer) rs1553662326
NM_001267550.2(TTN):c.57277del (p.Gln19093fs) rs2469805839
NM_001267550.2(TTN):c.57300_57303dup (p.Ile19102Ter) rs1553659902
NM_001267550.2(TTN):c.57334del (p.Ile19112fs) rs2469802743
NM_001267550.2(TTN):c.57377G>A (p.Trp19126Ter) rs2469800384
NM_001267550.2(TTN):c.57518_57521del (p.Lys19173fs) rs760967554
NM_001267550.2(TTN):c.57558del (p.Val19187fs) rs1576186406
NM_001267550.2(TTN):c.57769C>T (p.Arg19257Ter) rs794729275
NM_001267550.2(TTN):c.57865G>T (p.Glu19289Ter)
NM_001267550.2(TTN):c.58157dup (p.Thr19387fs) rs1559622431
NM_001267550.2(TTN):c.58290dup (p.Asp19431Ter) rs2469615248
NM_001267550.2(TTN):c.58474_58480del (p.Val19492fs) rs2469599218
NM_001267550.2(TTN):c.58606A>T (p.Lys19536Ter) rs2469594241
NM_001267550.2(TTN):c.58788_58795dup (p.Thr19599delinsAsnTer) rs2469577137
NM_001267550.2(TTN):c.58838del (p.Tyr19613fs) rs1576141328
NM_001267550.2(TTN):c.58925del (p.Pro19642fs) rs2469572128
NM_001267550.2(TTN):c.59127del (p.Ser19710fs) rs2050559188
NM_001267550.2(TTN):c.59205del (p.Glu19735fs) rs397517643
NM_001267550.2(TTN):c.59277del (p.Val19760fs) rs2469551141
NM_001267550.2(TTN):c.59351_59352del (p.Pro19784fs) rs886039027
NM_001267550.2(TTN):c.59353G>T (p.Glu19785Ter) rs794729276
NM_001267550.2(TTN):c.59394del (p.Val19800fs) rs2469538973
NM_001267550.2(TTN):c.59602_59603del (p.Val19868fs) rs2469530748
NM_001267550.2(TTN):c.59605dup (p.Ser19869fs) rs2469530688
NM_001267550.2(TTN):c.59627-1G>C
NM_001267550.2(TTN):c.59763del (p.Ser19921fs) rs1559599859
NM_001267550.2(TTN):c.59767C>T (p.Gln19923Ter) rs2469513309
NM_001267550.2(TTN):c.59771G>A (p.Trp19924Ter)
NM_001267550.2(TTN):c.59836_59842del (p.Gln19946fs)
NM_001267550.2(TTN):c.59848C>T (p.Arg19950Ter) rs1559598775
NM_001267550.2(TTN):c.59926+1G>A rs553526525
NM_001267550.2(TTN):c.59977G>T (p.Glu19993Ter) rs1085307825
NM_001267550.2(TTN):c.60049C>T (p.Gln20017Ter) rs2469494483
NM_001267550.2(TTN):c.60138T>A (p.Tyr20046Ter)
NM_001267550.2(TTN):c.60153del (p.Ala20052fs)
NM_001267550.2(TTN):c.60307A>T (p.Arg20103Ter) rs1553644307
NM_001267550.2(TTN):c.60455_60456del (p.Thr20152fs) rs2154184873
NM_001267550.2(TTN):c.60579G>A (p.Trp20193Ter) rs2050116026
NM_001267550.2(TTN):c.6061C>T (p.Arg2021Ter) rs2092153679
NM_001267550.2(TTN):c.60716del (p.Gly20239fs) rs2469460047
NM_001267550.2(TTN):c.60837_60840delinsAA (p.Val20280fs) rs2469454918
NM_001267550.2(TTN):c.60902del (p.Ser20301fs) rs1553643140
NM_001267550.2(TTN):c.60931C>T (p.Arg20311Ter) rs869312055
NM_001267550.2(TTN):c.61175G>A (p.Trp20392Ter)
NM_001267550.2(TTN):c.61197_61198insAT (p.Gly20400fs) rs2049985232
NM_001267550.2(TTN):c.61218T>G (p.Tyr20406Ter)
NM_001267550.2(TTN):c.61394_61395del (p.Val20465fs) rs2154184320
NM_001267550.2(TTN):c.61479_61483del (p.Ile20494fs) rs1131691981
NM_001267550.2(TTN):c.61555C>T (p.Arg20519Ter) rs794729278
NM_001267550.2(TTN):c.61612del (p.Glu20538fs) rs2469421735
NM_001267550.2(TTN):c.61637dup (p.Tyr20547fs) rs886039084
NM_001267550.2(TTN):c.61770G>A (p.Trp20590Ter) rs2469415251
NM_001267550.2(TTN):c.61830dup (p.Pro20611fs) rs2154184083
NM_001267550.2(TTN):c.61855del (p.Val20619fs) rs2469411858
NM_001267550.2(TTN):c.61890del (p.Asn20631fs) rs2469410613
NM_001267550.2(TTN):c.62131_62135dup (p.Asp20713fs) rs2469400184
NM_001267550.2(TTN):c.62173G>T (p.Glu20725Ter)
NM_001267550.2(TTN):c.62197_62198insC (p.Cys20733fs) rs2469397711
NM_001267550.2(TTN):c.62272del (p.Glu20758fs)
NM_001267550.2(TTN):c.62299C>T (p.Gln20767Ter) rs1553640642
NM_001267550.2(TTN):c.62506C>T (p.Arg20836Ter) rs757231565
NM_001267550.2(TTN):c.62506_62510del (p.Lys20835_Arg20836insTer)
NM_001267550.2(TTN):c.62610dup (p.Leu20871fs)
NM_001267550.2(TTN):c.62627del (p.Val20876fs) rs1553640190
NM_001267550.2(TTN):c.62654G>A (p.Trp20885Ter) rs2469376762
NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter) rs543860009
NM_001267550.2(TTN):c.62909dup (p.Glu20971fs) rs876657666
NM_001267550.2(TTN):c.62935G>T (p.Glu20979Ter) rs1306891128
NM_001267550.2(TTN):c.62966del (p.Tyr20989fs) rs2469363669
NM_001267550.2(TTN):c.63025C>T (p.Arg21009Ter) rs368452607
NM_001267550.2(TTN):c.63142_63143del (p.Glu21048fs) rs2469355092
NM_001267550.2(TTN):c.63234del (p.Lys21078fs) rs2469329299
NM_001267550.2(TTN):c.63333del (p.Pro21112fs)
NM_001267550.2(TTN):c.63467del (p.Pro21156fs) rs2469318845
NM_001267550.2(TTN):c.63504del (p.Ile21168_Leu21169insTer) rs2154182600
NM_001267550.2(TTN):c.63526_63527del (p.Leu21176fs) rs2154182483
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter) rs764243269
NM_001267550.2(TTN):c.63615del (p.Val21206fs)
NM_001267550.2(TTN):c.63722delinsAA (p.Ser21241Ter) rs2049307995
NM_001267550.2(TTN):c.63792del (p.Asp21265fs) rs2469297748
NM_001267550.2(TTN):c.6381C>G (p.Tyr2127Ter) rs2092121151
NM_001267550.2(TTN):c.63898_63899del (p.His21300fs) rs2469283584
NM_001267550.2(TTN):c.64011C>A (p.Tyr21337Ter) rs1553636324
NM_001267550.2(TTN):c.64198_64202dup (p.Tyr21401Ter)
NM_001267550.2(TTN):c.64243del (p.Trp21415fs) rs2469245062
NM_001267550.2(TTN):c.64249_64253dup (p.Tyr21418Ter) rs794729329
NM_001267550.2(TTN):c.64287del (p.Gly21430fs) rs2049038862
NM_001267550.2(TTN):c.64397-1G>A rs876657668
NM_001267550.2(TTN):c.64397-2del rs2469181316
NM_001267550.2(TTN):c.64453C>T (p.Arg21485Ter) rs768345594
NM_001267550.2(TTN):c.64468del (p.Val21490fs) rs2469178279
NM_001267550.2(TTN):c.64495_64498dup (p.Trp21500Ter)
NM_001267550.2(TTN):c.64551dup (p.Ala21518fs)
NM_001267550.2(TTN):c.64586_64587del (p.Val21529fs) rs2469173765
NM_001267550.2(TTN):c.64688del (p.Pro21563fs) rs774395395
NM_001267550.2(TTN):c.64810C>T (p.Arg21604Ter) rs767011515
NM_001267550.2(TTN):c.64849del (p.Thr21617fs) rs2469155018
NM_001267550.2(TTN):c.64999C>T (p.Arg21667Ter) rs794729280
NM_001267550.2(TTN):c.6501del (p.Val2168fs)
NM_001267550.2(TTN):c.65040G>A (p.Trp21680Ter) rs2469142626
NM_001267550.2(TTN):c.65156_65157dup (p.Pro21720fs) rs2469137282
NM_001267550.2(TTN):c.65324dup (p.Leu21776fs) rs2469106192
NM_001267550.2(TTN):c.6532C>T (p.Gln2178Ter) rs1193046655
NM_001267550.2(TTN):c.65394del (p.Lys21798fs)
NM_001267550.2(TTN):c.65449del (p.Glu21817fs) rs2469101483
NM_001267550.2(TTN):c.65536del (p.Ser21846fs) rs2469098192
NM_001267550.2(TTN):c.65696_65706del (p.Lys21899fs) rs2469065314
NM_001267550.2(TTN):c.65704_65712delinsT (p.Gly21901_Thr21902insTer) rs2469065049
NM_001267550.2(TTN):c.65783_65805del (p.Arg21928fs)
NM_001267550.2(TTN):c.6583G>T (p.Glu2195Ter)
NM_001267550.2(TTN):c.658C>T (p.Arg220Ter) rs748313513
NM_001267550.2(TTN):c.66010del (p.Ala22004fs)
NM_001267550.2(TTN):c.66059_66060del (p.Leu22020fs) rs2469025786
NM_001267550.2(TTN):c.66159T>A (p.Tyr22053Ter) rs760885240
NM_001267550.2(TTN):c.66176dup (p.Cys22059fs) rs2469016068
NM_001267550.2(TTN):c.66222dup (p.Ser22075fs)
NM_001267550.2(TTN):c.66401dup (p.Asn22134fs)
NM_001267550.2(TTN):c.66464-2A>G rs1575921187
NM_001267550.2(TTN):c.66593del (p.Ala22198fs) rs2468991750
NM_001267550.2(TTN):c.66679C>T (p.Gln22227Ter) rs2468989119
NM_001267550.2(TTN):c.66816_66817del (p.Leu22273fs) rs2154176484
NM_001267550.2(TTN):c.66846T>G (p.Tyr22282Ter) rs779240170
NM_001267550.2(TTN):c.669+1G>T rs1574982376
NM_001267550.2(TTN):c.66968del (p.Asn22323fs) rs2154176360
NM_001267550.2(TTN):c.67028dup (p.Glu22344fs) rs2047417339
NM_001267550.2(TTN):c.67166_67167del (p.Tyr22389fs) rs1476017129
NM_001267550.2(TTN):c.67374del (p.Lys22459_Val22460insTer) rs2468900294
NM_001267550.2(TTN):c.67421del (p.Lys22474fs) rs794729332
NM_001267550.2(TTN):c.67609del (p.Ile22537fs) rs1553622205
NM_001267550.2(TTN):c.67637-1G>C rs886038831
NM_001267550.2(TTN):c.67823_67824del (p.Leu22608fs)
NM_001267550.2(TTN):c.67900_67901del (p.Gly22634fs) rs2468869425
NM_001267550.2(TTN):c.67932dup (p.Gly22645fs)
NM_001267550.2(TTN):c.67952_67955del (p.Ile22651fs) rs2047099006
NM_001267550.2(TTN):c.6820C>T (p.Gln2274Ter) rs145649088
NM_001267550.2(TTN):c.68242_68243dup (p.Pro22749fs) rs1085307600
NM_001267550.2(TTN):c.68308del (p.Thr22770fs) rs1064796112
NM_001267550.2(TTN):c.68350G>T (p.Glu22784Ter) rs1423648586
NM_001267550.2(TTN):c.68370G>A (p.Trp22790Ter) rs2468816812
NM_001267550.2(TTN):c.68427del (p.Glu22810fs) rs2468814033
NM_001267550.2(TTN):c.68442T>A (p.Tyr22814Ter) rs2468813508
NM_001267550.2(TTN):c.6857T>G (p.Leu2286Ter)
NM_001267550.2(TTN):c.68641C>T (p.Arg22881Ter) rs1213930919
NM_001267550.2(TTN):c.68746_68749dup (p.Arg22917delinsAsnTer) rs2468794483
NM_001267550.2(TTN):c.68862dup (p.Gly22955fs) rs2468781847
NM_001267550.2(TTN):c.68993C>A (p.Ser22998Ter) rs2468776213
NM_001267550.2(TTN):c.69078del (p.Phe23026fs) rs2468772442
NM_001267550.2(TTN):c.69131del (p.Pro23044fs) rs2154173603
NM_001267550.2(TTN):c.69131dup (p.Gly23045fs) rs2154173603
NM_001267550.2(TTN):c.69211_69214delinsTCT (p.Pro23071fs) rs886039741
NM_001267550.2(TTN):c.69244del (p.Thr23082fs) rs2468762969
NM_001267550.2(TTN):c.69291C>A (p.Cys23097Ter) rs2468761188
NM_001267550.2(TTN):c.69421_69422insAAAAG (p.Gly23141fs) rs1247353236
NM_001267550.2(TTN):c.69422_69423delinsAAAAGGA (p.Gly23141fs) rs2468749792
NM_001267550.2(TTN):c.69422_69426delinsAAAAGGACCC (p.Gly23141fs) rs2046539116
NM_001267550.2(TTN):c.69458_69461dup (p.Asn23154fs) rs397517679
NM_001267550.2(TTN):c.69536_69543dup (p.Lys23182fs) rs2468743550
NM_001267550.2(TTN):c.69553C>T (p.Arg23185Ter) rs878854328
NM_001267550.2(TTN):c.69571_69592dup (p.Arg23198fs) rs2046499843
NM_001267550.2(TTN):c.69860G>A (p.Trp23287Ter) rs869067204
NM_001267550.2(TTN):c.69999del (p.Glu23334fs) rs2468713552
NM_001267550.2(TTN):c.70000del (p.Glu23334fs) rs1131691811
NM_001267550.2(TTN):c.70131_70132dup (p.Trp23378fs)
NM_001267550.2(TTN):c.70137_70138delinsTTCAGGTTG (p.Lys23380delinsSerGlyTer) rs2468706609
NM_001267550.2(TTN):c.70210_70223delinsTTTACTCTTC (p.Glu23404fs) rs1553614347
NM_001267550.2(TTN):c.70378_70379del (p.Leu23460fs) rs2468696124
NM_001267550.2(TTN):c.70420A>T (p.Lys23474Ter) rs2154172475
NM_001267550.2(TTN):c.70571_70572dup (p.Glu23525fs) rs1709775754
NM_001267550.2(TTN):c.70699dup (p.Tyr23567fs) rs2468678417
NM_001267550.2(TTN):c.70794del (p.Glu23599fs) rs1553612904
NM_001267550.2(TTN):c.70810C>T (p.Gln23604Ter) rs747651345
NM_001267550.2(TTN):c.7082del (p.Gly2361fs)
NM_001267550.2(TTN):c.70890_70891del (p.Pro23631fs) rs2468666500
NM_001267550.2(TTN):c.70915delinsAGAAACTGACC (p.Tyr23639delinsArgAsnTer) rs2468665214
NM_001267550.2(TTN):c.71007del (p.Gly23670fs) rs2468661040
NM_001267550.2(TTN):c.71024_71027del (p.Lys23675fs) rs1709577304
NM_001267550.2(TTN):c.71083G>T (p.Glu23695Ter) rs1575796530
NM_001267550.2(TTN):c.71176dup (p.Ile23726fs) rs2468654445
NM_001267550.2(TTN):c.71242del (p.Trp23748fs) rs1060500514
NM_001267550.2(TTN):c.71421T>G (p.Tyr23807Ter) rs745999472
NM_001267550.2(TTN):c.71491_71492insT (p.Gly23831fs) rs1196000654
NM_001267550.2(TTN):c.71620C>T (p.Gln23874Ter)
NM_001267550.2(TTN):c.71634del (p.Ala23879fs) rs727503565
NM_001267550.2(TTN):c.71661del (p.Lys23887fs) rs2468631530
NM_001267550.2(TTN):c.71685_71686insAAATA (p.Ala23896delinsLysTer) rs1709360511
NM_001267550.2(TTN):c.71848_71855dup (p.Gly23953fs) rs1254650118
NM_001267550.2(TTN):c.71980_71986delinsTA (p.Ala23994_Glu23996delinsTer) rs794729338
NM_001267550.2(TTN):c.72088A>T (p.Lys24030Ter) rs1709195189
NM_001267550.2(TTN):c.72130_72133del (p.Gly24044fs) rs2154171220
NM_001267550.2(TTN):c.72267_72270del (p.Asn24089fs)
NM_001267550.2(TTN):c.72574G>T (p.Glu24192Ter) rs2154170941
NM_001267550.2(TTN):c.72611del (p.Gly24204fs)
NM_001267550.2(TTN):c.72630dup (p.Ser24211fs) rs2468588490
NM_001267550.2(TTN):c.72632C>G (p.Ser24211Ter) rs2468588268
NM_001267550.2(TTN):c.72645delinsCTGCAA (p.Ala24216fs) rs1553609137
NM_001267550.2(TTN):c.72828_72831dup (p.Thr24278fs) rs751319893
NM_001267550.2(TTN):c.72835_72838dup (p.Leu24280Ter) rs2468577902
NM_001267550.2(TTN):c.73114_73132del (p.Ile24372fs) rs2468564655
NM_001267550.2(TTN):c.73200T>A (p.Tyr24400Ter) rs1250752630
NM_001267550.2(TTN):c.73324_73331dup (p.Cys24444fs) rs2468554373
NM_001267550.2(TTN):c.73346_73347del (p.Phe24449fs) rs2154170352
NM_001267550.2(TTN):c.73385_73386delinsC (p.Trp24462fs) rs2468551534
NM_001267550.2(TTN):c.73469dup (p.Asn24490fs) rs2468547967
NM_001267550.2(TTN):c.73508del (p.Asn24503fs) rs886038839
NM_001267550.2(TTN):c.7365_7374del (p.Asn2455fs) rs794729397
NM_001267550.2(TTN):c.73673del (p.Lys24558fs)
NM_001267550.2(TTN):c.73734G>A (p.Trp24578Ter) rs753105114
NM_001267550.2(TTN):c.73767C>G (p.Tyr24589Ter)
NM_001267550.2(TTN):c.73939C>T (p.Arg24647Ter) rs2154169928
NM_001267550.2(TTN):c.73975_74029del (p.Gly24659fs) rs2468522858
NM_001267550.2(TTN):c.74246G>A (p.Trp24749Ter)
NM_001267550.2(TTN):c.74368_74372del (p.Lys24789_Leu24790insTer) rs2468507533
NM_001267550.2(TTN):c.74381_74382del (p.Ala24794fs) rs2468506986
NM_001267550.2(TTN):c.74608del (p.Ala24870fs) rs878854332
NM_001267550.2(TTN):c.74865G>A (p.Trp24955Ter) rs1708081683
NM_001267550.2(TTN):c.74901del (p.Lys24967fs) rs2468484409
NM_001267550.2(TTN):c.7495A>T (p.Lys2499Ter) rs2532675283
NM_001267550.2(TTN):c.75003T>G (p.Tyr25001Ter)
NM_001267550.2(TTN):c.7501C>T (p.Arg2501Ter) rs781459488
NM_001267550.2(TTN):c.75138_75141del (p.Lys25046fs) rs794729340
NM_001267550.2(TTN):c.75250C>T (p.Arg25084Ter) rs794729286
NM_001267550.2(TTN):c.75328C>T (p.Arg25110Ter) rs794729382
NM_001267550.2(TTN):c.75468_75469delinsCT (p.Arg25157Ter) rs2468459965
NM_001267550.2(TTN):c.75479_75482del (p.Ile25160fs) rs1553603364
NM_001267550.2(TTN):c.75507_75508del (p.Ser25170fs) rs2468458306
NM_001267550.2(TTN):c.75542_75554del (p.Asn25181fs) rs2468456267
NM_001267550.2(TTN):c.75568del (p.Ala25190fs) rs2468455749
NM_001267550.2(TTN):c.7557del (p.Gly2520fs) rs2532671828
NM_001267550.2(TTN):c.75633_75636dup (p.Val25213fs) rs1553603036
NM_001267550.2(TTN):c.75669_75670del (p.Leu25224fs) rs2468451818
NM_001267550.2(TTN):c.75741del (p.Ser25248fs) rs2468449263
NM_001267550.2(TTN):c.75778C>T (p.Gln25260Ter)
NM_001267550.2(TTN):c.76023dup (p.Glu25342Ter)
NM_001267550.2(TTN):c.76238_76239del (p.Lys25413fs) rs2468425787
NM_001267550.2(TTN):c.76240dup (p.Val25414fs) rs1707514832
NM_001267550.2(TTN):c.76293T>G (p.Tyr25431Ter) rs763605078
NM_001267550.2(TTN):c.76342_76345dup (p.Val25449fs) rs2154168044
NM_001267550.2(TTN):c.76383_76386del (p.Asn25462fs) rs869312078
NM_001267550.2(TTN):c.76401del (p.Glu25467_Val25468insTer) rs2468418251
NM_001267550.2(TTN):c.76403del (p.Val25468fs) rs2468417997
NM_001267550.2(TTN):c.76446_76447del (p.Ala25483fs) rs1707425522
NM_001267550.2(TTN):c.76507del (p.Glu25503fs) rs2154167928
NM_001267550.2(TTN):c.76634del (p.Gly25545fs) rs2468408553
NM_001267550.2(TTN):c.76717C>T (p.Arg25573Ter) rs767450912
NM_001267550.2(TTN):c.76770del (p.Lys25590fs)
NM_001267550.2(TTN):c.76779del (p.Phe25593fs) rs2468402452
NM_001267550.2(TTN):c.76940C>G (p.Ser25647Ter) rs2468395152
NM_001267550.2(TTN):c.76953del (p.Val25651_Val25652insTer) rs2468394423
NM_001267550.2(TTN):c.76990C>T (p.Gln25664Ter) rs1707186504
NM_001267550.2(TTN):c.77100dup (p.Pro25701fs) rs794729343
NM_001267550.2(TTN):c.77113del (p.Lys25704_Ile25705insTer) rs2468387098
NM_001267550.2(TTN):c.77120_77121del (p.Val25707fs) rs2468386814
NM_001267550.2(TTN):c.77147_77150del (p.Val25715_Ser25716insTer) rs1466647934
NM_001267550.2(TTN):c.77183del (p.Ser25728fs) rs2468384784
NM_001267550.2(TTN):c.77227G>T (p.Glu25743Ter) rs765997807
NM_001267550.2(TTN):c.77230A>T (p.Lys25744Ter) rs2468382923
NM_001267550.2(TTN):c.77237C>A (p.Ser25746Ter) rs2468382669
NM_001267550.2(TTN):c.77437C>T (p.Gln25813Ter) rs794729287
NM_001267550.2(TTN):c.77493G>A (p.Trp25831Ter) rs760625258
NM_001267550.2(TTN):c.77546C>A (p.Ser25849Ter) rs2468369853
NM_001267550.2(TTN):c.77646_77662delinsAGA (p.Ile25883fs) rs794729345
NM_001267550.2(TTN):c.7766del (p.Lys2588_Leu2589insTer) rs2532653345
NM_001267550.2(TTN):c.77884del (p.Gln25962fs) rs2468355094
NM_001267550.2(TTN):c.78197dup (p.Tyr26066Ter) rs1553596594
NM_001267550.2(TTN):c.78348dup (p.Gly26117fs) rs751230035
NM_001267550.2(TTN):c.78404G>A (p.Trp26135Ter) rs1064793668
NM_001267550.2(TTN):c.78425del (p.Asn26142fs) rs2468333440
NM_001267550.2(TTN):c.78489dup (p.Ile26164fs) rs2468331033
NM_001267550.2(TTN):c.78563_78566dup (p.Glu26189delinsAspTer) rs2468328310
NM_001267550.2(TTN):c.78572dup (p.Arg26192fs)
NM_001267550.2(TTN):c.78588_78624dup (p.Glu26209fs) rs1706342425
NM_001267550.2(TTN):c.78697del (p.Glu26233fs) rs2468323213
NM_001267550.2(TTN):c.78728_78731del (p.Lys26243fs) rs2468321548
NM_001267550.2(TTN):c.78749del (p.Leu26250fs) rs1064793285
NM_001267550.2(TTN):c.78961_78964del (p.His26321fs)
NM_001267550.2(TTN):c.78962_80999delinsTGCTTATT (p.His26321fs)
NM_001267550.2(TTN):c.79066G>T (p.Glu26356Ter)
NM_001267550.2(TTN):c.79275_79276del (p.Asp26427fs) rs2468301810
NM_001267550.2(TTN):c.79294C>T (p.Arg26432Ter) rs774411587
NM_001267550.2(TTN):c.79447dup (p.Asp26483fs) rs886039211
NM_001267550.2(TTN):c.79563del (p.Tyr26522fs)
NM_001267550.2(TTN):c.79603C>T (p.Gln26535Ter) rs1064793911
NM_001267550.2(TTN):c.79618C>T (p.Gln26540Ter)
NM_001267550.2(TTN):c.79712T>G (p.Leu26571Ter) rs2468284394
NM_001267550.2(TTN):c.79717G>T (p.Glu26573Ter) rs1705879851
NM_001267550.2(TTN):c.79750G>T (p.Glu26584Ter) rs2468282675
NM_001267550.2(TTN):c.79780del (p.Asp26595fs) rs2468281908
NM_001267550.2(TTN):c.79797_79822dup (p.Gly26608delinsGluLysGluLeuLeuTer) rs2154165475
NM_001267550.2(TTN):c.80125_80126dup (p.Asp26710fs) rs1705700724
NM_001267550.2(TTN):c.80174_80202dup (p.Ser26735delinsGlnProGluLysArgMetLeuMetTer) rs2154165199
NM_001267550.2(TTN):c.80328del (p.Ala26777fs) rs2468261203
NM_001267550.2(TTN):c.80365_80432del (p.Leu26789fs) rs1575674631
NM_001267550.2(TTN):c.80371dup (p.Asp26791fs) rs2468259366
NM_001267550.2(TTN):c.80380C>T (p.Gln26794Ter) rs2154165062
NM_001267550.2(TTN):c.80401dup (p.Trp26801fs) rs2468257785
NM_001267550.2(TTN):c.80584del (p.Ser26862fs) rs794729348
NM_001267550.2(TTN):c.80651T>A (p.Leu26884Ter) rs2468248886
NM_001267550.2(TTN):c.80738G>A (p.Trp26913Ter) rs1705368893
NM_001267550.2(TTN):c.80850C>G (p.Tyr26950Ter) rs794729291
NM_001267550.2(TTN):c.80855_80856dup (p.Thr26953Ter) rs2468240887
NM_001267550.2(TTN):c.80895_80896del (p.Ser26966fs)
NM_001267550.2(TTN):c.80950G>T (p.Glu26984Ter) rs1060500562
NM_001267550.2(TTN):c.80997_81012del (p.Ala26998_Tyr26999insTer) rs727503559
NM_001267550.2(TTN):c.81009C>A (p.Cys27003Ter)
NM_001267550.2(TTN):c.81126del (p.Glu27042fs) rs1553579429
NM_001267550.2(TTN):c.81159T>A (p.Tyr27053Ter) rs2468227378
NM_001267550.2(TTN):c.81202del (p.Tyr27068fs) rs794729394
NM_001267550.2(TTN):c.81243_81261del (p.Thr27082fs) rs749610641
NM_001267550.2(TTN):c.81340_81344del (p.Lys27114fs) rs886038928
NM_001267550.2(TTN):c.81357G>A (p.Trp27119Ter) rs1384101598
NM_001267550.2(TTN):c.81522_81529del (p.Pro27174_Gly27175insTer) rs2468212825
NM_001267550.2(TTN):c.81618_86068del (p.Val27207fs)
NM_001267550.2(TTN):c.81723T>A (p.Tyr27241Ter) rs769821404
NM_001267550.2(TTN):c.81746del (p.Asn27249fs) rs2468204803
NM_001267550.2(TTN):c.81747del (p.Asn27249fs) rs2468204757
NM_001267550.2(TTN):c.81758del (p.Asn27253fs) rs2154162603
NM_001267550.2(TTN):c.81926G>A (p.Trp27309Ter)
NM_001267550.2(TTN):c.82173G>A (p.Trp27391Ter)
NM_001267550.2(TTN):c.82184T>A (p.Leu27395Ter) rs2468186675
NM_001267550.2(TTN):c.82186dup (p.Gln27396fs) rs2468186571
NM_001267550.2(TTN):c.82273C>T (p.Gln27425Ter) rs371332011
NM_001267550.2(TTN):c.82310_82311del (p.Gly27437fs) rs2468182036
NM_001267550.2(TTN):c.82401T>G (p.Tyr27467Ter) rs771006818
NM_001267550.2(TTN):c.82470G>A (p.Trp27490Ter) rs2468175075
NM_001267550.2(TTN):c.82594dup (p.Thr27532fs) rs1064795407
NM_001267550.2(TTN):c.82639G>T (p.Glu27547Ter) rs779874042
NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter) rs869178171
NM_001267550.2(TTN):c.82659del (p.Glu27554fs) rs2468165346
NM_001267550.2(TTN):c.82888C>T (p.Gln27630Ter) rs2468154852
NM_001267550.2(TTN):c.82909A>T (p.Lys27637Ter) rs2468154010
NM_001267550.2(TTN):c.8307_8308del (p.Ala2770fs) rs869312037
NM_001267550.2(TTN):c.83104C>T (p.Arg27702Ter) rs1559314812
NM_001267550.2(TTN):c.83284A>T (p.Arg27762Ter) rs781734969
NM_001267550.2(TTN):c.83360G>A (p.Trp27787Ter) rs2468134625
NM_001267550.2(TTN):c.83747_83751del (p.Val27916fs) rs2469725831
NM_001267550.2(TTN):c.83830_83836delinsTCACT (p.Arg27944fs) rs1575633082
NM_001267550.2(TTN):c.83935C>T (p.Gln27979Ter) rs2469717681
NM_001267550.2(TTN):c.84109_84110del (p.Val28037fs) rs2154160413
NM_001267550.2(TTN):c.84286_84289del (p.Glu28096fs)
NM_001267550.2(TTN):c.84296_84297del (p.Ser28099fs) rs1553565463
NM_001267550.2(TTN):c.84376C>T (p.Gln28126Ter) rs869312119
NM_001267550.2(TTN):c.8442del (p.Phe2814fs) rs2532489689
NM_001267550.2(TTN):c.84476del (p.Gly28159fs) rs1553564694
NM_001267550.2(TTN):c.84553C>T (p.Arg28185Ter) rs397517729
NM_001267550.2(TTN):c.84557dup (p.Ile28187fs) rs1553564589
NM_001267550.2(TTN):c.84583G>T (p.Glu28195Ter) rs2469696390
NM_001267550.2(TTN):c.84586_84589del (p.Arg28196fs) rs1703664543
NM_001267550.2(TTN):c.84643A>T (p.Lys28215Ter) rs2154159715
NM_001267550.2(TTN):c.84676_84679del (p.Glu28226fs)
NM_001267550.2(TTN):c.84819del (p.Trp28273fs) rs2154159514
NM_001267550.2(TTN):c.84933C>G (p.Tyr28311Ter) rs757013679
NM_001267550.2(TTN):c.84979del (p.Val28327fs)
NM_001267550.2(TTN):c.85150C>T (p.Arg28384Ter) rs1703437679
NM_001267550.2(TTN):c.85173G>A (p.Trp28391Ter) rs1553563519
NM_001267550.2(TTN):c.85267C>T (p.Arg28423Ter) rs769664554
NM_001267550.2(TTN):c.85295del (p.Leu28432fs) rs1575616801
NM_001267550.2(TTN):c.85374dup (p.Glu28459Ter)
NM_001267550.2(TTN):c.85408_85409del (p.Leu28470fs) rs2154159007
NM_001267550.2(TTN):c.85494G>A (p.Trp28498Ter) rs1703274205
NM_001267550.2(TTN):c.85640_85652del (p.Pro28547fs) rs762286447
NM_001267550.2(TTN):c.85707_85708del (p.Cys28570fs) rs1219440385
NM_001267550.2(TTN):c.86015G>A (p.Trp28672Ter) rs1559284497
NM_001267550.2(TTN):c.86105_86108del (p.Ile28702fs) rs2469642822
NM_001267550.2(TTN):c.86267_86268del (p.Ile28756fs) rs2469637523
NM_001267550.2(TTN):c.86387_86391del (p.Arg28796fs) rs794729354
NM_001267550.2(TTN):c.86413_86417delinsATGG (p.Asp28805fs) rs2469629904
NM_001267550.2(TTN):c.86426C>G (p.Ser28809Ter) rs1553560951
NM_001267550.2(TTN):c.86441del (p.Asn28814fs) rs2469628413
NM_001267550.2(TTN):c.86620G>T (p.Gly28874Ter) rs765852996
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer) rs727504856
NM_001267550.2(TTN):c.86992del (p.Thr28998fs) rs2469572245
NM_001267550.2(TTN):c.87143dup (p.Asn29048fs)
NM_001267550.2(TTN):c.87238del (p.Arg29080fs) rs757007819
NM_001267550.2(TTN):c.87256A>T (p.Lys29086Ter)
NM_001267550.2(TTN):c.87295_87296insT (p.Asn29099fs) rs2469555480
NM_001267550.2(TTN):c.87296dup (p.Asn29099fs) rs2469555432
NM_001267550.2(TTN):c.87381_87424dup (p.Thr29142delinsLysLeuSerLeuThrLeuLeuCysTer) rs2469550341
NM_001267550.2(TTN):c.87451del (p.Thr29151fs) rs2154156000
NM_001267550.2(TTN):c.87515dup (p.Asn29172fs) rs2469547329
NM_001267550.2(TTN):c.87572dup (p.Val29192fs) rs2469544518
NM_001267550.2(TTN):c.87716del (p.Gly29239fs) rs869312028
NM_001267550.2(TTN):c.87733dup (p.Trp29245fs) rs1553553671
NM_001267550.2(TTN):c.87734G>A (p.Trp29245Ter) rs1701973330
NM_001267550.2(TTN):c.87834_87837del (p.Asp29278fs) rs756035074
NM_001267550.2(TTN):c.87835del (p.Arg29279fs) rs2154155616
NM_001267550.2(TTN):c.87841_87842del (p.Ser29281fs) rs2469527656
NM_001267550.2(TTN):c.87939T>G (p.Tyr29313Ter) rs200314496
NM_001267550.2(TTN):c.88000del (p.Asp29334fs) rs2469521534
NM_001267550.2(TTN):c.88091_88094del (p.Gly29364fs) rs2154155280
NM_001267550.2(TTN):c.88121_88122del (p.Arg29374fs)
NM_001267550.2(TTN):c.88184del (p.Phe29395fs) rs1553551651
NM_001267550.2(TTN):c.88311del (p.Pro29438fs) rs2469412099
NM_001267550.2(TTN):c.88422G>A (p.Trp29474Ter) rs1553547657
NM_001267550.2(TTN):c.88636_88637del (p.Val29546fs) rs2469391309
NM_001267550.2(TTN):c.88696del (p.Ile29566fs) rs1064796323
NM_001267550.2(TTN):c.88703_88704del (p.His29568fs) rs794729360
NM_001267550.2(TTN):c.88825C>T (p.Arg29609Ter) rs766450773
NM_001267550.2(TTN):c.8884_8898delinsTAAATG (p.Ala2962_Val2966delinsTer) rs2532456803
NM_001267550.2(TTN):c.88852_88855del (p.Glu29618fs) rs2154152955
NM_001267550.2(TTN):c.89017C>T (p.Arg29673Ter) rs886038916
NM_001267550.2(TTN):c.89040G>A (p.Trp29680Ter) rs2469353500
NM_001267550.2(TTN):c.89077C>T (p.Gln29693Ter) rs2469351716
NM_001267550.2(TTN):c.89127T>A (p.Cys29709Ter)
NM_001267550.2(TTN):c.89150del (p.Gly29717fs) rs2154152449
NM_001267550.2(TTN):c.89178C>G (p.Tyr29726Ter) rs762411631
NM_001267550.2(TTN):c.89222_89226del (p.Ile29741fs) rs1575534947
NM_001267550.2(TTN):c.89275_89278del (p.Val29759fs) rs2469338226
NM_001267550.2(TTN):c.89288del (p.Gly29763fs) rs1575534208
NM_001267550.2(TTN):c.89314G>T (p.Glu29772Ter) rs200503016
NM_001267550.2(TTN):c.89563del (p.Glu29855fs)
NM_001267550.2(TTN):c.89839C>T (p.Arg29947Ter) rs727505224
NM_001267550.2(TTN):c.89985dup (p.Asp29996fs) rs2469307457
NM_001267550.2(TTN):c.90286_90292del (p.Gln30096fs) rs2469296980
NM_001267550.2(TTN):c.9047del (p.Met3016fs) rs2532400378
NM_001267550.2(TTN):c.90628del (p.Val30210fs) rs2154151163
NM_001267550.2(TTN):c.90657del (p.Ile30220fs) rs2469283054
NM_001267550.2(TTN):c.90721dup (p.Ser30241fs) rs2469280642
NM_001267550.2(TTN):c.90760G>T (p.Gly30254Ter) rs1060500495
NM_001267550.2(TTN):c.90762del (p.Gly30255fs)
NM_001267550.2(TTN):c.90825del (p.Cys30276fs)
NM_001267550.2(TTN):c.90827dup (p.Cys30276fs) rs2469276710
NM_001267550.2(TTN):c.90900_90901del (p.Arg30300fs) rs2469274169
NM_001267550.2(TTN):c.90935del (p.Val30312fs) rs2469272983
NM_001267550.2(TTN):c.91113G>A (p.Trp30371Ter) rs1553538469
NM_001267550.2(TTN):c.91192del (p.Arg30398fs) rs2469262451
NM_001267550.2(TTN):c.91341_91343delinsTAAGTGGGTGTGA (p.Leu30447_Arg30448delinsPheLysTrpValTer) rs727505076
NM_001267550.2(TTN):c.91352dup (p.Ser30452fs) rs2469239373
NM_001267550.2(TTN):c.91445_91446del (p.Thr30482fs) rs1699247877
NM_001267550.2(TTN):c.91476T>G (p.Tyr30492Ter) rs727504646
NM_001267550.2(TTN):c.91544_91554del (p.Ile30515fs) rs1559192617
NM_001267550.2(TTN):c.91550_91559del (p.Thr30517fs)
NM_001267550.2(TTN):c.91565-1G>A rs775248181
NM_001267550.2(TTN):c.91669C>T (p.Arg30557Ter) rs1553536305
NM_001267550.2(TTN):c.91715dup (p.Asn30572fs) rs779129892
NM_001267550.2(TTN):c.91784_91790delinsAC (p.Gly30595fs) rs2469186967
NM_001267550.2(TTN):c.91791del (p.Val30596_Tyr30597insTer)
NM_001267550.2(TTN):c.91859del (p.Pro30620fs) rs2469178597
NM_001267550.2(TTN):c.91875del (p.Pro30626fs) rs757451467
NM_001267550.2(TTN):c.91911_91913delinsAGTCATCT (p.Met30637fs) rs2469176505
NM_001267550.2(TTN):c.91920G>A (p.Trp30640Ter) rs1698600051
NM_001267550.2(TTN):c.92017A>T (p.Lys30673Ter) rs2154148429
NM_001267550.2(TTN):c.92284_92288dup (p.Ser30763fs) rs756367933
NM_001267550.2(TTN):c.92298G>A (p.Trp30766Ter) rs2469158014
NM_001267550.2(TTN):c.92404G>T (p.Gly30802Ter) rs2469154798
NM_001267550.2(TTN):c.92493del (p.Asp30832fs) rs2469152579
NM_001267550.2(TTN):c.92568T>A (p.Tyr30856Ter) rs1296831661
NM_001267550.2(TTN):c.92620G>T (p.Glu30874Ter) rs2469149367
NM_001267550.2(TTN):c.92631dup (p.Lys30878fs) rs886039145
NM_001267550.2(TTN):c.92652_92659del (p.Asp30885fs) rs1559175090
NM_001267550.2(TTN):c.92659C>T (p.Gln30887Ter) rs1305222903
NM_001267550.2(TTN):c.92661del (p.Ala30888fs) rs2469148059
NM_001267550.2(TTN):c.92683C>T (p.Arg30895Ter) rs869312065
NM_001267550.2(TTN):c.92722del (p.Cys30908fs)
NM_001267550.2(TTN):c.92797C>T (p.Gln30933Ter) rs1553532356
NM_001267550.2(TTN):c.93034A>T (p.Lys31012Ter) rs2154147529
NM_001267550.2(TTN):c.9319A>T (p.Lys3107Ter)
NM_001267550.2(TTN):c.93288T>A (p.Tyr31096Ter) rs1280272876
NM_001267550.2(TTN):c.93337C>T (p.Gln31113Ter) rs1454572839
NM_001267550.2(TTN):c.93396_93400del (p.Ala31133_Trp31134insTer) rs886044536
NM_001267550.2(TTN):c.93553del (p.Arg31185fs)
NM_001267550.2(TTN):c.93641del (p.Thr31214fs) rs2469112296
NM_001267550.2(TTN):c.93735del (p.Lys31246_Val31247insTer) rs2469109067
NM_001267550.2(TTN):c.93781C>T (p.Arg31261Ter) rs1553528016
NM_001267550.2(TTN):c.93796del (p.Thr31266fs)
NM_001267550.2(TTN):c.93803_93804del (p.Lys31268fs)
NM_001267550.2(TTN):c.93853A>T (p.Arg31285Ter) rs2469105624
NM_001267550.2(TTN):c.93875_93877delinsTT (p.Asn31292fs)
NM_001267550.2(TTN):c.9395del (p.Gly3132fs) rs2532340410
NM_001267550.2(TTN):c.94167del (p.Phe31389fs) rs747837187
NM_001267550.2(TTN):c.94180delinsTCTAGCAG (p.Pro31394fs) rs727503547
NM_001267550.2(TTN):c.94190C>A (p.Ser31397Ter) rs2469095187
NM_001267550.2(TTN):c.94291G>T (p.Glu31431Ter) rs1697595705
NM_001267550.2(TTN):c.94298del (p.Tyr31433fs) rs2469083896
NM_001267550.2(TTN):c.94405A>T (p.Lys31469Ter) rs1553524697
NM_001267550.2(TTN):c.94452T>G (p.Tyr31484Ter) rs763668385
NM_001267550.2(TTN):c.94562C>G (p.Ser31521Ter) rs2469069452
NM_001267550.2(TTN):c.94816C>T (p.Arg31606Ter) rs1060500435
NM_001267550.2(TTN):c.94866del (p.Asp31623fs)
NM_001267550.2(TTN):c.94889del (p.Gly31630fs)
NM_001267550.2(TTN):c.94963G>T (p.Glu31655Ter)
NM_001267550.2(TTN):c.94991T>A (p.Leu31664Ter) rs2154145831
NM_001267550.2(TTN):c.95023_95024del (p.Ile31675fs) rs1697105934
NM_001267550.2(TTN):c.95266del (p.Trp31755_Val31756insTer) rs2154145523
NM_001267550.2(TTN):c.95343del (p.Arg31781_Val31782insTer) rs2469025705
NM_001267550.2(TTN):c.95443del (p.Glu31815fs)
NM_001267550.2(TTN):c.95452_95453delinsATATGCCAT (p.Gly31818fs) rs2469015635
NM_001267550.2(TTN):c.95526C>G (p.Tyr31842Ter)
NM_001267550.2(TTN):c.9565C>T (p.Gln3189Ter) rs768694953
NM_001267550.2(TTN):c.95723-2A>C rs2154144335
NM_001267550.2(TTN):c.9577C>T (p.Arg3193Ter) rs746115846
NM_001267550.2(TTN):c.95829_95830insG (p.Tyr31944fs) rs2468967933
NM_001267550.2(TTN):c.95872C>T (p.Arg31958Ter) rs2154144218
NM_001267550.2(TTN):c.95944del (p.Ser31982fs) rs2468964807
NM_001267550.2(TTN):c.96233_96236delinsCCT (p.Tyr32078fs) rs1553518529
NM_001267550.2(TTN):c.96260_96279dup (p.Lys32094fs) rs2154143867
NM_001267550.2(TTN):c.96477C>A (p.Cys32159Ter) rs2468932834
NM_001267550.2(TTN):c.96669G>A (p.Trp32223Ter) rs2154143423
NM_001267550.2(TTN):c.96680_96684del (p.Leu32227fs) rs2468927529
NM_001267550.2(TTN):c.96682dup (p.Tyr32228fs) rs2154143418
NM_001267550.2(TTN):c.96824_96831del (p.Leu32274_Phe32275insTer) rs2154143307
NM_001267550.2(TTN):c.96853del (p.Val32285fs)
NM_001267550.2(TTN):c.97114dup (p.Arg32372fs) rs1064793419
NM_001267550.2(TTN):c.97129_97130dup (p.Leu32379fs) rs748382770
NM_001267550.2(TTN):c.97212dup (p.Gly32405fs) rs2468893752
NM_001267550.2(TTN):c.9727C>T (p.Gln3243Ter) rs869312093
NM_001267550.2(TTN):c.97315C>T (p.Gln32439Ter) rs767837705
NM_001267550.2(TTN):c.97405_97408del (p.Glu32469fs) rs2468887529
NM_001267550.2(TTN):c.97405_97410delinsAC (p.Glu32469fs) rs1553515430
NM_001267550.2(TTN):c.97492+1G>C rs727505319
NM_001267550.2(TTN):c.9751C>T (p.Gln3251Ter)
NM_001267550.2(TTN):c.97555_97558dup (p.Trp32520fs) rs1575386270
NM_001267550.2(TTN):c.97647_97663dup (p.Thr32555delinsLysIleLysTyrLeuTer) rs2154141588
NM_001267550.2(TTN):c.97653del (p.Val32552fs) rs2468846150
NM_001267550.2(TTN):c.97813C>T (p.Gln32605Ter) rs1301441435
NM_001267550.2(TTN):c.97972C>T (p.Arg32658Ter) rs879097896
NM_001267550.2(TTN):c.98072del (p.Gly32691fs) rs2468791370
NM_001267550.2(TTN):c.98074del (p.Thr32692fs) rs2468791271
NM_001267550.2(TTN):c.98134G>T (p.Glu32712Ter) rs727504679
NM_001267550.2(TTN):c.98171_98174dup (p.Ile32726fs) rs1275153634
NM_001267550.2(TTN):c.98245del (p.Ala32749fs) rs2468778141
NM_001267550.2(TTN):c.9829C>T (p.Gln3277Ter) rs2532188334
NM_001267550.2(TTN):c.98628del (p.Phe32876fs) rs2468765145
NM_001267550.2(TTN):c.98923C>T (p.Gln32975Ter) rs2468746262
NM_001267550.2(TTN):c.98989+1G>A rs112240298
NM_001267550.2(TTN):c.99023_99026del (p.Leu33008fs) rs2468737336
NM_001267550.2(TTN):c.99034A>T (p.Lys33012Ter) rs771511344
NM_001267550.2(TTN):c.99041del (p.Ser33014fs) rs2154139357
NM_001267550.2(TTN):c.99081dup (p.Lys33028Ter) rs2468735181
NM_001267550.2(TTN):c.99425_99428del (p.Ile33142fs) rs2468684173
NM_001267550.2(TTN):c.99496G>T (p.Glu33166Ter) rs886038825
NM_001267550.2(TTN):c.9951del (p.Asp3316_Tyr3317insTer) rs2532184386
NM_001267550.2(TTN):c.99571C>T (p.Gln33191Ter) rs2468679007
NM_001267550.2(TTN):c.99613A>T (p.Lys33205Ter) rs2468677363
NM_001267550.2(TTN):c.99719C>G (p.Ser33240Ter) rs794727539
NM_001267550.2(TTN):c.9979_9980del (p.Val3328fs) rs2532183675
NM_001267550.2(TTN):c.99859dup (p.Ile33287fs) rs2468668527
NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp) rs74315380
NM_001276345.2(TNNT2):c.445C>T (p.Arg149Cys) rs397516465
NM_001276345.2(TNNT2):c.446G>A (p.Arg149His) rs397516466
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) rs74315379
NM_001276345.2(TNNT2):c.456T>G (p.Asn152Lys) rs1659262013
NM_001276345.2(TNNT2):c.493G>T (p.Glu165Ter) rs1558225837
NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe) rs727504246
NM_001276345.2(TNNT2):c.837C>A (p.Asn279Lys) rs376923877
NM_001276345.2(TNNT2):c.851+1G>A rs111377893
NM_001276345.2(TNNT2):c.851+1G>C rs111377893
NM_001276345.2(TNNT2):c.863G>C (p.Arg288Pro) rs397516484
NM_001281740.3(FHOD3):c.1646+1G>C
NM_001281740.3(FHOD3):c.1646G>A (p.Ser549Asn)
NM_001367624.2(ZNF469):c.9915del (p.Arg3306fs)
NM_001371904.1(APOA5):c.154G>T (p.Glu52Ter) rs755144803
NM_001371904.1(APOA5):c.466G>T (p.Glu156Ter) rs761704440
NM_001371904.1(APOA5):c.494dup (p.Val166fs) rs764366547
NM_001371904.1(APOA5):c.795del (p.Thr266fs) rs1341621315
NM_001371904.1(APOA5):c.990_993del (p.Asp332fs) rs774150500
NM_001378454.1(ALMS1):c.10214-2A>G rs2104063527
NM_001378454.1(ALMS1):c.11547+1G>T rs1553418638
NM_001378454.1(ALMS1):c.12114+1G>A rs376719320
NM_001378454.1(ALMS1):c.1432+1G>T rs1553401634
NM_001378454.1(ALMS1):c.1432+2_1432+15del rs1203193062
NM_001378454.1(ALMS1):c.31G>T (p.Glu11Ter) rs2465969801
NM_001378454.1(ALMS1):c.451-2A>G rs2466035962
NM_001378969.1(KCND3):c.1150G>A (p.Gly384Ser) rs1664632655
NM_001458.5(FLNC):c.1210+1G>A
NM_001458.5(FLNC):c.1549+2T>G rs111806457
NM_001458.5(FLNC):c.1677-1G>C rs2536627048
NM_001458.5(FLNC):c.2160del (p.Asn721fs) rs2536630380
NM_001458.5(FLNC):c.2293G>T (p.Glu765Ter)
NM_001458.5(FLNC):c.2550+1G>C rs1474115309
NM_001458.5(FLNC):c.2550+2T>C rs113972676
NM_001458.5(FLNC):c.2811+1G>A rs2128936028
NM_001458.5(FLNC):c.2830del (p.Thr943_Val944insTer)
NM_001458.5(FLNC):c.2930-1G>A rs2536635253
NM_001458.5(FLNC):c.4457-1G>T rs1404524040
NM_001458.5(FLNC):c.4952-2A>T rs774945928
NM_001458.5(FLNC):c.5685del (p.Val1896fs) rs1808809268
NM_001458.5(FLNC):c.6931G>T (p.Glu2311Ter)
NM_001458.5(FLNC):c.6958G>A (p.Gly2320Arg) rs867808948
NM_001458.5(FLNC):c.7385-2A>G
NM_001458.5(FLNC):c.8034del (p.Cys2679fs)
NM_001613.4(ACTA2):c.130-2del
NM_001927.4(DES):c.1202A>G (p.Glu401Gly) rs1954444202
NM_001927.4(DES):c.1203G>C (p.Glu401Asp) rs2125168897
NM_001927.4(DES):c.1353C>G (p.Ile451Met) rs121913002
NM_001943.5(DSG2):c.2001+1G>T rs2510920042
NM_001943.5(DSG2):c.216+1G>T rs1316380114
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys) rs121913010
NM_001943.5(DSG2):c.2551del (p.Ile851fs) rs763907170
NM_001943.5(DSG2):c.2617C>T (p.Gln873Ter) rs765347389
NM_001943.5(DSG2):c.2620del (p.Thr874fs) rs755243947
NM_001943.5(DSG2):c.2955del (p.Val986fs) rs1064794709
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs) rs397516706
NM_001943.5(DSG2):c.523+1G>A rs553299589
NM_002294.3(LAMP2):c.183+1G>A rs727503120
NM_002294.3(LAMP2):c.741+1G>A rs1251075016
NM_002317.7(LOX):c.139C>T (p.Gln47Ter) rs2532918093
NM_002317.7(LOX):c.295_299dup (p.Ala101fs) rs2532917277
NM_002317.7(LOX):c.604G>T (p.Gly202Ter) rs1473260982
NM_002317.7(LOX):c.625del (p.Gln209fs) rs756849358
NM_002524.5(NRAS):c.38G>T (p.Gly13Val) rs121434596
NM_002709.3(PPP1CB):c.755A>G (p.Asp252Gly) rs2465753864
NM_002834.5(PTPN11):c.1507G>T (p.Gly503Trp)
NM_002834.5(PTPN11):c.178G>T (p.Gly60Cys) rs397507507
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) rs397507527
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met) rs397507530
NM_002880.4(RAF1):c.1279A>G (p.Ser427Gly) rs730881002
NM_002880.4(RAF1):c.1472C>T (p.Thr491Ile) rs80338799
NM_002880.4(RAF1):c.524A>G (p.His175Arg) rs397516822
NM_002880.4(RAF1):c.779C>T (p.Thr260Ile) rs869025501
NM_002880.4(RAF1):c.782C>A (p.Pro261His) rs397516828
NM_002880.4(RAF1):c.788T>C (p.Val263Ala) rs397516830
NM_002890.3(RASA1):c.1454-11_1454-7del rs60835976
NM_002890.3(RASA1):c.2011+1G>C rs2531342144
NM_002890.3(RASA1):c.2925+1dup rs1762098966
NM_003242.6(TGFBR2):c.1061_1063delinsCCC (p.Leu354_Ala355delinsProPro)
NM_003242.6(TGFBR2):c.1446_1447del (p.Val484fs) rs1559472349
NM_003319.4(TTN):c.12525dup (p.Asn4176Ter) rs876657673
NM_003319.4(TTN):c.22101_22120del (p.Val7368fs) rs727504825
NM_003319.4(TTN):c.45637dup (p.Thr15213fs) rs876657669
NM_003319.4(TTN):c.69998_70007del10 rs2468894140
NM_003319.4(TTN):c.80003_80028+4del rs1553479603
NM_003319.4:c.42742_42743insALU
NM_003319.4:c.42743_42744insALU
NM_003319.4:c.58067_58068insALU
NM_003476.5(CSRP3):c.414+1G>T rs935867046
NM_003673.4(TCAP):c.110_110+1dup rs786205076
NM_004006.2:c.(357+1_358-1)_(2949+1_2950-1)del
NM_004006.2:c.(6438+1_6439-1)_(7542+1_7543-1)del
NM_004006.3(DMD):c.1483-1534_1565del
NM_004006.3(DMD):c.31+36947G>A rs886042106
NM_004006.3(DMD):c.3432+2036A>G rs182575709
NM_004006.3(DMD):c.5586+1G>T
NM_004006.3(DMD):c.6136C>T (p.Gln2046Ter) rs2148457829
NM_004006.3(DMD):c.9974+1G>A
NM_004100.5(EYA4):c.1839+1G>A rs768710868
NM_004281.4(BAG3):c.108G>A (p.Trp36Ter) rs1846844070
NM_004281.4(BAG3):c.1240G>T (p.Glu414Ter) rs117749531
NM_004281.4(BAG3):c.1306G>T (p.Glu436Ter) rs2494023702
NM_004281.4(BAG3):c.1326del (p.Phe442fs)
NM_004281.4(BAG3):c.1417C>T (p.Arg473Ter) rs199682693
NM_004281.4(BAG3):c.1440_1450del (p.Arg480fs) rs2494024121
NM_004281.4(BAG3):c.568_577del (p.Ser190fs) rs1847161579
NM_004281.4(BAG3):c.77G>A (p.Trp26Ter) rs1554875409
NM_004281.4(BAG3):c.910C>T (p.Gln304Ter) rs2134068635
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004333.6(BRAF):c.785A>G (p.Gln262Arg) rs397516904
NM_004387.4(NKX2-5):c.167_186dup (p.Ala63fs) rs2113906336
NM_004387.4(NKX2-5):c.646del (p.Arg216fs) rs2480072423
NM_004387.4(NKX2-5):c.668_690del (p.Leu223fs)
NM_004415.2:c.3564_3565insALU
NM_004415.4(DSP):c.123C>G (p.Tyr41Ter) rs1057523045
NM_004415.4(DSP):c.170+1G>A rs1309931610
NM_004415.4(DSP):c.1802_1851dup (p.His618fs)
NM_004415.4(DSP):c.1891C>T (p.Gln631Ter)
NM_004415.4(DSP):c.1903+5G>T
NM_004415.4(DSP):c.2437-1G>C rs1057517903
NM_004415.4(DSP):c.250_273+1del rs2533842462
NM_004415.4(DSP):c.2630+1del rs1554107651
NM_004415.4(DSP):c.3466C>T (p.Gln1156Ter) rs1581815654
NM_004415.4(DSP):c.6954_6955del (p.Gly2319fs) rs1554108929
NM_004415.4(DSP):c.7103dup (p.Leu2368fs)
NM_004415.4(DSP):c.7123G>C (p.Gly2375Arg) rs376923069
NM_004415.4(DSP):c.7212dup (p.Leu2405fs)
NM_004415.4(DSP):c.7346del (p.Lys2449fs) rs2533945316
NM_004415.4(DSP):c.7418_7425dup (p.Glu2476fs) rs2533945755
NM_004415.4(DSP):c.7503_7508del (p.Cys2501_Glu2502del) rs1473818298
NM_004415.4(DSP):c.778-2A>G rs113726158
NM_004415.4(DSP):c.7780dup (p.Ser2594fs) rs397514045
NM_004415.4(DSP):c.8170C>T (p.Gln2724Ter) rs879254353
NM_004415.4(DSP):c.8188del (p.Gln2730fs) rs886038929
NM_004415.4(DSP):c.868G>A (p.Glu290Lys) rs397516974
NM_004415.4(DSP):c.877G>A (p.Glu293Lys) rs876657799
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu) rs111854391
NM_004612.4(TGFBR1):c.958A>T (p.Ile320Phe) rs760419678
NM_004985.5(KRAS):c.350A>C (p.Lys117Thr) rs2141506236
NM_005159.5(ACTC1):c.148G>A (p.Gly50Ser) rs1555418921
NM_005159.5(ACTC1):c.664G>A (p.Ala222Thr) rs1555418793
NM_005188.4(CBL):c.1109_1111dup (p.Leu370_Tyr371insLeu) rs2496939296
NM_005502.4(ABCA1):c.6007G>A (p.Gly2003Arg)
NM_005502.4(ABCA1):c.6242G>A (p.Arg2081Gln)
NM_005633.4(SOS1):c.1310T>A (p.Ile437Asn) rs397517150
NM_005633.4(SOS1):c.1649T>C (p.Leu550Pro) rs397517153
NM_005901.6(SMAD2):c.520+1G>A
NM_005902.4(SMAD3):c.1154G>C (p.Arg385Thr) rs886038770
NM_005902.4(SMAD3):c.747del (p.His249fs)
NM_006073.4(TRDN):c.580G>T (p.Glu194Ter)
NM_006888.6(CALM1):c.293A>G (p.Asn98Ser) rs267607277
NM_006912.6(RIT1):c.230C>G (p.Ala77Gly) rs1673399238
NM_006912.6(RIT1):c.259G>A (p.Asp87Asn) rs886041414
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln) rs869312687
NM_006939.4(SOS2):c.1648C>G (p.Arg550Gly) rs1344304906
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile) rs730881020
NM_014000.2:c.2298_(3258+1_3259-1)dup
NM_014908.4(DOLK):c.1275del (p.Cys426fs) rs1401485925
NM_014908.4(DOLK):c.132G>A (p.Trp44Ter)
NM_015627.3(LDLRAP1):c.748-608G>A rs2524136302
NM_016194.4(GNB5):c.154G>T (p.Glu52Ter) rs1332666675
NM_016203.4(PRKAG2):c.1149C>G (p.His383Gln)
NM_016203.4(PRKAG2):c.905G>C (p.Arg302Pro) rs121908987
NM_016938.5(EFEMP2):c.1171-2_1195del rs1859863045
NM_017636.4(TRPM4):c.1127T>C (p.Ile376Thr) rs2122839457
NM_017946.4(FKBP14):c.467_468del (p.Leu155_Ser156insTer) rs753775062
NM_018699.4(PRDM5):c.1666C>T (p.Gln556Ter) rs2529843313
NM_018699.4(PRDM5):c.243del (p.Trp81fs) rs771708843
NM_020297.4(ABCC9):c.3346C>T (p.Arg1116Cys) rs387907228
NM_020297.4(ABCC9):c.632T>G (p.Leu211Arg) rs2541736804
NM_020745.4(AARS2):c.104del (p.Pro35fs) rs758814921
NM_020745.4(AARS2):c.2230_2239delinsTCCCAC (p.Thr744fs)
NM_020778.4:c.(788+1_789-1)_(910+1_911-1)del
NM_020778.4:c.1178_1179insALU
NM_020778.5(ALPK3):c.-25dup rs2505689036
NM_020778.5(ALPK3):c.1009C>T (p.Gln337Ter) rs1567089714
NM_020778.5(ALPK3):c.1417dup (p.Gln473fs) rs769139957
NM_020778.5(ALPK3):c.143+1G>A rs2505689457
NM_020778.5(ALPK3):c.1438del (p.Arg480fs) rs1963653131
NM_020778.5(ALPK3):c.2464C>T (p.Gln822Ter) rs1173256548
NM_020778.5(ALPK3):c.2920G>T (p.Glu974Ter) rs2505720978
NM_020778.5(ALPK3):c.3313del (p.Ala1105fs) rs2505721718
NM_020778.5(ALPK3):c.3649_3662dup (p.Ser1222fs) rs2505722576
NM_020778.5(ALPK3):c.3818-1G>C rs2505723818
NM_020778.5(ALPK3):c.3818-1del rs2505723820
NM_020778.5(ALPK3):c.3947_3954dup (p.Val1319fs) rs2505724060
NM_020778.5(ALPK3):c.423-18_444del rs2505704683
NM_020778.5(ALPK3):c.4499+1G>A rs2505728562
NM_020778.5(ALPK3):c.4582G>T (p.Glu1528Ter) rs1380478280
NM_020778.5(ALPK3):c.4641dup (p.Glu1548Ter) rs2505729802
NM_020778.5(ALPK3):c.571_581dup (p.Glu195fs) rs2141556264
NM_020778.5(ALPK3):c.678_685dup (p.Gly229delinsAspTer) rs1963639299
NM_020778.5(ALPK3):c.680T>A (p.Leu227Ter) rs2141556463
NM_020778.5(ALPK3):c.690_697del (p.Gln231fs) rs750622312
NM_020778.5(ALPK3):c.751C>T (p.Gln251Ter) rs1963641493
NM_020778.5(ALPK3):c.801_810delinsACCTGA (p.Asn267fs) rs2505705477
NM_020778.5:c.(304+1_305-1)_(422+1_423-1)del
NM_022436.3(ABCG5):c.1325-1G>T rs768019354
NM_022436.3(ABCG5):c.774+2T>G
NM_022437.3(ABCG8):c.923G>T (p.Gly308Val)
NM_022773.4(LMF1):c.1024C>T (p.Arg342Ter) rs776584760
NM_024301.5(FKRP):c.1016G>A (p.Arg339His) rs1450841129
NM_024301.5(FKRP):c.109dup (p.Arg37fs)
NM_024301.5(FKRP):c.1378C>T (p.Gln460Ter) rs2513999711
NM_024301.5(FKRP):c.1415del (p.Lys472fs) rs1555739280
NM_024301.5(FKRP):c.686del (p.Arg229fs) rs1555738686
NM_024422.6(DSC2):c.1521-1G>A rs886039128
NM_024422.6(DSC2):c.2084G>A (p.Trp695Ter) rs963715928
NM_024422.6(DSC2):c.2250+1G>T
NM_024422.6(DSC2):c.354+2T>A rs2510955933
NM_024422.6(DSC2):c.96del (p.Ala31_Cys32insTer) rs397517408
NM_032588.4(TRIM63):c.713del (p.Lys238fs)
NM_152594.3(SPRED1):c.1075_1076insAGTA (p.Ile359fs) rs2542743815
NM_152594.3(SPRED1):c.71G>A (p.Arg24Gln) rs1057518150
NM_170707.3:c.(?_-1)_(513+1_514-1)del
NM_170707.4(LMNA):c.1004_1005inv (p.Arg335Pro)
NM_170707.4(LMNA):c.1142_1157+1del rs1553265755
NM_170707.4(LMNA):c.1381-1G>A rs2528006468
NM_170707.4(LMNA):c.1411C>G (p.Arg471Gly) rs28928902
NM_170707.4(LMNA):c.1489-1G>A rs1231097123
NM_170707.4(LMNA):c.1489-2A>G rs879254081
NM_170707.4(LMNA):c.1569del (p.Asn524fs)
NM_170707.4(LMNA):c.1608+2T>G rs2102896324
NM_170707.4(LMNA):c.1609-3C>G rs267607581
NM_170707.4(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_170707.4(LMNA):c.1622G>T (p.Arg541Leu)
NM_170707.4(LMNA):c.1698+1G>C rs1553266337
NM_170707.4(LMNA):c.215G>A (p.Arg72His) rs727504340
NM_170707.4(LMNA):c.266G>T (p.Arg89Leu) rs59040894
NM_170707.4(LMNA):c.449C>T (p.Thr150Ile) rs869069617
NM_170707.4(LMNA):c.455T>C (p.Leu152Pro) rs2527936976
NM_170707.4(LMNA):c.497G>C (p.Arg166Pro) rs267607570
NM_170707.4(LMNA):c.513+2T>G rs1553264668
NM_170707.4(LMNA):c.514-2A>G
NM_170707.4(LMNA):c.604G>T (p.Glu202Ter) rs2527968047
NM_170707.4(LMNA):c.629T>G (p.Ile210Ser) rs267607572
NM_170707.4(LMNA):c.639+1G>T rs869125101
NM_170707.4(LMNA):c.640-10A>G rs80356807
NM_170707.4(LMNA):c.644T>C (p.Leu215Pro) rs61295588
NM_170707.4(LMNA):c.73C>T (p.Arg25Cys) rs58327533
NM_170707.4(LMNA):c.778AAG[1] (p.Lys261del) rs58978449
NM_170707.4(LMNA):c.799T>C (p.Tyr267His) rs267607593
NM_170707.4(LMNA):c.811-1G>A rs1365042239
NM_170707.4(LMNA):c.937-1G>A rs1553265606
NM_170707.4(LMNA):c.937-2A>G rs2527988932
NM_174936.4(PCSK9):c.1120G>C (p.Asp374His) rs137852912
NM_174936.4(PCSK9):c.644G>A (p.Arg215His) rs794728683
NM_176869.3(PPA2):c.611T>A (p.Leu204Ter) rs371147281
NM_181486.4(TBX5):c.1202G>A (p.Trp401Ter) rs2540425164
NM_181486.4(TBX5):c.1485del (p.Thr496fs) rs2540424549
NM_181486.4(TBX5):c.362+2T>C rs1593881162
NM_181486.4(TBX5):c.982+2T>G rs2136373205
NM_198060.4(NRAP):c.3099G>A (p.Trp1033Ter) rs199673219
NM_198060.4(NRAP):c.4197G>A (p.Trp1399Ter) rs777578966

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