ClinVar Miner

List of variants reported as likely pathogenic for Cardiovascular phenotype

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1414
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HGVS dbSNP gnomAD frequency
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008 0.00031
NM_005502.4(ABCA1):c.5398A>C (p.Asn1800His) rs146292819 0.00029
NM_016938.5(EFEMP2):c.409A>T (p.Ser137Cys) rs1306393544 0.00022
NM_001267550.2(TTN):c.12587C>A (p.Ser4196Ter) rs370912401 0.00010
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 0.00009
NM_022436.3(ABCG5):c.1166G>A (p.Arg389His) rs119480069 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_000237.3(LPL):c.292G>A (p.Ala98Thr) rs145657341 0.00006
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_000237.3(LPL):c.589C>T (p.Arg197Cys) rs768128481 0.00004
NM_000237.3(LPL):c.662T>C (p.Ile221Thr) rs118204061 0.00004
NM_000238.4(KCNH2):c.2860C>T (p.Arg954Cys) rs141401803 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.1444G>A (p.Asp482Asn) rs139624145 0.00004
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000 0.00004
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=) rs727504509 0.00004
NM_001367624.2(ZNF469):c.10324del (p.Arg3442fs) rs756543273 0.00004
NM_001371904.1(APOA5):c.823C>T (p.Gln275Ter) rs149808404 0.00004
NM_022773.4(LMF1):c.1323del (p.Phe441fs) rs760536168 0.00004
NM_022773.4(LMF1):c.895C>T (p.Gln299Ter) rs554054538 0.00004
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.427C>T (p.Arg143Trp) rs727503278 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.1474G>C (p.Asp492His) rs373646964 0.00003
NM_000527.5(LDLR):c.514G>A (p.Asp172Asn) rs879254554 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_004415.4(DSP):c.7123G>A (p.Gly2375Arg) rs376923069 0.00003
NM_000089.4(COL1A2):c.2755G>A (p.Gly919Ser) rs749621872 0.00002
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361 0.00002
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln) rs2856655 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.958G>A (p.Val320Met) rs376897125 0.00002
NM_000335.5(SCN5A):c.612-2A>G rs370438420 0.00002
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) rs397516349 0.00002
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys) rs185098634 0.00002
NM_000527.5(LDLR):c.1774G>A (p.Gly592Arg) rs763147599 0.00002
NM_000527.5(LDLR):c.409G>A (p.Gly137Ser) rs730882082 0.00002
NM_001037.5(SCN1B):c.254G>A (p.Arg85His) rs16969925 0.00002
NM_001232.4(CASQ2):c.164A>G (p.Tyr55Cys) rs1436844070 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_001371904.1(APOA5):c.913C>T (p.Gln305Ter) rs1403296082 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_000020.3(ACVRL1):c.236G>A (p.Gly79Glu) rs1283365095 0.00001
NM_000039.3(APOA1):c.296T>C (p.Leu99Pro) rs372520221 0.00001
NM_000169.3(GLA):c.868A>C (p.Met290Leu) rs375538532 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.674C>T (p.Ser225Leu) rs199473456 0.00001
NM_000218.3(KCNQ1):c.683+5G>A rs397508122 0.00001
NM_000218.3(KCNQ1):c.728G>A (p.Arg243His) rs120074196 0.00001
NM_000218.3(KCNQ1):c.776G>A (p.Arg259His) rs199472720 0.00001
NM_000218.3(KCNQ1):c.905C>T (p.Ala302Val) rs193922365 0.00001
NM_000237.3(LPL):c.1139+1G>A rs767260655 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.2467C>T (p.Arg823Trp) rs199473538 0.00001
NM_000238.4(KCNH2):c.2660G>A (p.Arg887His) rs199473432 0.00001
NM_000256.3(MYBPC3):c.1227-2A>G rs730880531 0.00001
NM_000256.3(MYBPC3):c.2737+5G>A rs398123280 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_000257.4(MYH7):c.1231G>A (p.Val411Ile) rs730880868 0.00001
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys) rs148808089 0.00001
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr) rs397516103 0.00001
NM_000257.4(MYH7):c.1447G>A (p.Glu483Lys) rs121913651 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.3169G>A (p.Gly1057Ser) rs397516179 0.00001
NM_000257.4(MYH7):c.343T>C (p.Tyr115His) rs397516183 0.00001
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln) rs727504325 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_000257.4(MYH7):c.728G>A (p.Arg243His) rs267606910 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_000335.5(SCN5A):c.1066G>A (p.Asp356Asn) rs199473565 0.00001
NM_000335.5(SCN5A):c.1099C>T (p.Arg367Cys) rs199473097 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.2677C>T (p.Arg893Cys) rs199473171 0.00001
NM_000335.5(SCN5A):c.2678G>A (p.Arg893His) rs199473172 0.00001
NM_000335.5(SCN5A):c.4716C>T (p.Gly1572=) rs754221948 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_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_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.1307T>C (p.Val436Ala) rs779732323 0.00001
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102 0.00001
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val) rs755667663 0.00001
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser) rs758194385 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.1966C>A (p.His656Asn) rs762815611 0.00001
NM_000527.5(LDLR):c.223T>A (p.Cys75Ser) rs879254439 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.664T>C (p.Cys222Arg) rs577934998 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_001005242.3(PKP2):c.1034+1G>A rs869025496 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_001079802.2(FKTN):c.1129_1130del (p.Met377fs) rs1554761402 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_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.101227C>T (p.Arg33743Ter) rs794729305 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.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.42214C>T (p.Arg14072Ter) rs794729258 0.00001
NM_001267550.2(TTN):c.43600C>T (p.Gln14534Ter) rs727504499 0.00001
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001 0.00001
NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter) rs397517580 0.00001
NM_001267550.2(TTN):c.48015_48016del (p.Asp16007fs) rs794729319 0.00001
NM_001267550.2(TTN):c.49870C>T (p.Arg16624Ter) rs1471414348 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.55660C>T (p.Arg18554Ter) rs1483931960 0.00001
NM_001267550.2(TTN):c.57127del (p.Glu19042_Val19043insTer) rs2052216955 0.00001
NM_001267550.2(TTN):c.57769C>T (p.Arg19257Ter) rs794729275 0.00001
NM_001267550.2(TTN):c.58732+2T>C rs869312054 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.67348+1G>A rs758279518 0.00001
NM_001267550.2(TTN):c.68885_68888dup (p.Ile22964fs) rs757603460 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.82240C>T (p.Arg27414Ter) rs766840243 0.00001
NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter) rs1575649368 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.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.95195C>T (p.Pro31732Leu) rs753334568 0.00001
NM_001267550.2(TTN):c.98506C>T (p.Arg32836Ter) rs869312085 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.890G>A (p.Trp297Ter) rs727504247 0.00001
NM_001371904.1(APOA5):c.427del (p.Arg143fs) rs777046568 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_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_004415.4(DSP):c.7641C>G (p.Tyr2547Ter) rs1464253797 0.00001
NM_005477.3(HCN4):c.1454C>T (p.Ala485Val) rs1454748709 0.00001
NM_006912.6(RIT1):c.251C>T (p.Ala84Val) rs869025196 0.00001
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu) rs104894681 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.1608+5G>A rs267607539 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.640-10A>G rs80356807 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
NM_000020.3(ACVRL1):c.1012G>T (p.Val338Phe)
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)
NM_000020.3(ACVRL1):c.1049-1G>A rs1060503242
NM_000020.3(ACVRL1):c.1055C>A (p.Ala352Asp) rs1085307415
NM_000020.3(ACVRL1):c.1123T>C (p.Tyr375His)
NM_000020.3(ACVRL1):c.1136A>C (p.Glu379Ala)
NM_000020.3(ACVRL1):c.1195T>G (p.Trp399Gly) rs1085307418
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)
NM_000020.3(ACVRL1):c.1246G>A (p.Gly416Ser) rs1592225112
NM_000020.3(ACVRL1):c.1273T>A (p.Phe425Ile)
NM_000020.3(ACVRL1):c.1275C>G (p.Phe425Leu)
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
NM_000020.3(ACVRL1):c.137G>C (p.Cys46Ser) rs1555152454
NM_000020.3(ACVRL1):c.1398_1399del (p.Gln466fs)
NM_000020.3(ACVRL1):c.140G>C (p.Arg47Pro) rs774389618
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)
NM_000020.3(ACVRL1):c.1466T>C (p.Leu489Pro) rs1057523573
NM_000020.3(ACVRL1):c.154A>C (p.Thr52Pro)
NM_000020.3(ACVRL1):c.229T>C (p.Cys77Arg)
NM_000020.3(ACVRL1):c.235G>A (p.Gly79Arg)
NM_000020.3(ACVRL1):c.265T>C (p.Cys89Arg) rs1555152520
NM_000020.3(ACVRL1):c.287A>G (p.Asn96Ser)
NM_000020.3(ACVRL1):c.313+2T>C
NM_000020.3(ACVRL1):c.313_313+1del
NM_000020.3(ACVRL1):c.526-1G>A rs1565593274
NM_000020.3(ACVRL1):c.526-1G>C
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
NM_000020.3(ACVRL1):c.62-36_66delinsTGAAG
NM_000020.3(ACVRL1):c.625+1G>A
NM_000020.3(ACVRL1):c.625G>A (p.Gly209Arg) rs1940766958
NM_000020.3(ACVRL1):c.625G>C (p.Gly209Arg)
NM_000020.3(ACVRL1):c.641G>T (p.Gly214Val)
NM_000020.3(ACVRL1):c.643G>A (p.Glu215Lys) rs754283265
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)
NM_000020.3(ACVRL1):c.824T>C (p.Leu275Pro)
NM_000020.3(ACVRL1):c.830C>A (p.Thr277Lys) rs750085854
NM_000020.3(ACVRL1):c.835_837dup (p.Tyr279_His280insTyr)
NM_000020.3(ACVRL1):c.839A>G (p.His280Arg)
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)
NM_000020.3(ACVRL1):c.956G>A (p.Gly319Asp)
NM_000020.3(ACVRL1):c.988G>A (p.Asp330Asn)
NM_000020.3(ACVRL1):c.988_990delinsTGG (p.Asp330Trp)
NM_000088.4(COL1A1):c.1299+5G>A rs193922139
NM_000088.4(COL1A1):c.3559G>T (p.Gly1187Cys)
NM_000088.4(COL1A1):c.563G>A (p.Gly188Asp) rs1114167408
NM_000088.4(COL1A1):c.661G>A (p.Gly221Ser) rs72667037
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.910G>A (p.Gly304Ser) rs1054264002
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.202T>A (p.Cys68Ser) rs113604459
NM_000138.5(FBN1):c.2201G>A (p.Cys734Tyr) rs794728187
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.3963A>G (p.Thr1321=) rs140648
NM_000138.5(FBN1):c.5372G>A (p.Cys1791Tyr) rs886038848
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr) rs794728333
NM_000138.5(FBN1):c.6430A>C (p.Asn2144His) rs886038943
NM_000169.3(GLA):c.1077_1086del (p.Gly360fs)
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.444T>G (p.Ser148Arg) rs1569304190
NM_000169.3(GLA):c.47T>C (p.Leu16Pro)
NM_000169.3(GLA):c.512G>A (p.Gly171Asp)
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.713G>A (p.Ser238Asn) rs730880450
NM_000169.3(GLA):c.812G>T (p.Gly271Val) rs869312429
NM_000169.3(GLA):c.962A>G (p.Gln321Arg) rs1928161905
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.1046C>G (p.Ser349Trp) rs199472765
NM_000218.3(KCNQ1):c.1097G>T (p.Arg366Leu) rs199473410
NM_000218.3(KCNQ1):c.1140G>T (p.Arg380Ser) rs199472771
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.1616G>A (p.Arg539Gln) rs199472794
NM_000218.3(KCNQ1):c.1669A>G (p.Lys557Glu) rs199472801
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)
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
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.568C>T (p.Arg190Trp) rs199473662
NM_000218.3(KCNQ1):c.569G>T (p.Arg190Leu) rs120074178
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.776G>T (p.Arg259Leu) rs199472720
NM_000218.3(KCNQ1):c.850G>A (p.Glu284Lys) rs199472734
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.199C>T (p.Arg67Cys) rs199473645
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) rs199473362
NM_000229.2(LCAT):c.1267C>T (p.Arg423Cys)
NM_000237.3(LPL):c.242G>A (p.Gly81Asp) rs762007406
NM_000238.4(KCNH2):c.1128+1G>C
NM_000238.4(KCNH2):c.1128G>A (p.Gln376=) rs770047651
NM_000238.4(KCNH2):c.1280A>C (p.Tyr427Ser) rs199472897
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.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.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
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
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.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.2766del (p.Pro923fs) rs1554424403
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.832_916+11del
NM_000238.4(KCNH2):c.87C>G (p.Phe29Leu)
NM_000238.4(KCNH2):c.917-1G>T
NM_000256.3(MYBPC3):c.107del (p.Ala36fs)
NM_000256.3(MYBPC3):c.1090G>A (p.Ala364Thr) rs794727046
NM_000256.3(MYBPC3):c.1227-39_1263del
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.1790+1G>A rs1555122053
NM_000256.3(MYBPC3):c.1A>T (p.Met1Leu) rs1461764618
NM_000256.3(MYBPC3):c.2148+1G>T rs1060499604
NM_000256.3(MYBPC3):c.2291_2308+3del
NM_000256.3(MYBPC3):c.2413+2T>A
NM_000256.3(MYBPC3):c.2429G>T (p.Arg810Leu) rs375675796
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp) rs775404728
NM_000256.3(MYBPC3):c.2738-2A>G
NM_000256.3(MYBPC3):c.3190+5G>C
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.3491-2A>C rs397516022
NM_000256.3(MYBPC3):c.3491-3C>G rs730880592
NM_000256.3(MYBPC3):c.3593_3627+20del
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.3782_3792delinsCCTG (p.Glu1261fs) rs1085307897
NM_000256.3(MYBPC3):c.3787del (p.Arg1263fs)
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His) rs730880624
NM_000256.3(MYBPC3):c.710A>G (p.Tyr237Cys)
NM_000256.3(MYBPC3):c.821+2dup
NM_000256.3(MYBPC3):c.821+3G>T rs727503213
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.1219G>T (p.Gly407Cys)
NM_000257.4(MYH7):c.1220G>T (p.Gly407Val) rs397516095
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.1618T>C (p.Phe540Leu) rs1060501443
NM_000257.4(MYH7):c.1751G>A (p.Gly584Asp)
NM_000257.4(MYH7):c.1826A>G (p.Tyr609Cys) rs727504925
NM_000257.4(MYH7):c.1987C>A (p.Arg663Ser) rs397516127
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.2539_2541del (p.Lys847del) rs397516155
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.2602G>C (p.Ala868Pro) rs727504356
NM_000257.4(MYH7):c.2605C>T (p.Arg869Cys) rs730880750
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_000257.4(MYH7):c.2631G>A (p.Met877Ile) rs1060505018
NM_000257.4(MYH7):c.2711G>C (p.Arg904Pro) rs397516165
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.2863G>A (p.Asp955Asn) rs886039204
NM_000257.4(MYH7):c.2886del (p.Val964fs) rs886038901
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu) rs397516178
NM_000257.4(MYH7):c.4144C>T (p.Arg1382Trp) rs730880910
NM_000257.4(MYH7):c.4259G>A (p.Arg1420Gln) rs397516207
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.5134C>T (p.Arg1712Trp) rs121913650
NM_000257.4(MYH7):c.596C>T (p.Ala199Val) rs727504283
NM_000257.4(MYH7):c.602T>C (p.Ile201Thr) rs397516258
NM_000257.4(MYH7):c.611G>T (p.Arg204Leu) rs397516260
NM_000257.4(MYH7):c.676G>A (p.Ala226Thr) rs1057517773
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_000335.5(SCN5A):c.2023+1G>A rs1553703211
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
NM_000335.5(SCN5A):c.3509-1G>C rs1553698563
NM_000335.5(SCN5A):c.361C>T (p.Arg121Trp) rs199473556
NM_000335.5(SCN5A):c.3960+1G>A rs483353016
NM_000335.5(SCN5A):c.3971A>G (p.Asn1324Ser) rs28937317
NM_000335.5(SCN5A):c.3985G>A (p.Ala1329Thr) rs199473224
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>A
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.4717G>A (p.Glu1573Lys) rs199473620
NM_000335.5(SCN5A):c.482+1G>C
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000335.5(SCN5A):c.4892G>T (p.Arg1631Leu)
NM_000335.5(SCN5A):c.4996G>A (p.Val1666Ile) rs199473293
NM_000335.5(SCN5A):c.5414_5417del (p.Thr1805fs) rs1060501127
NM_000335.5(SCN5A):c.5461_5464del (p.Glu1822fs) rs794728924
NM_000335.5(SCN5A):c.94C>T (p.Gln32Ter)
NM_000335.5(SCN5A):c.998+1G>T
NM_000363.5(TNNI3):c.407G>A (p.Arg136Gln) rs730881069
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.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)
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)
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)
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.401A>G (p.Tyr134Cys) rs121918075
NM_000371.4(TTR):c.418G>T (p.Ala140Ser) rs876658108
NM_000384.3(APOB):c.3491G>C (p.Arg1164Thr)
NM_000432.4(MYL2):c.52T>C (p.Phe18Leu) rs104894370
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys) rs104894368
NM_000527.4(LDLR):c.-135C>G
NM_000527.4(LDLR):c.-152C>T
NM_000527.4(LDLR):c.-156C>T rs879254364
NM_000527.5(LDLR):c.1004G>T (p.Gly335Val) rs869320650
NM_000527.5(LDLR):c.1028G>A (p.Gly343Asp) rs879254760
NM_000527.5(LDLR):c.1049G>C (p.Arg350Pro) rs875989914
NM_000527.5(LDLR):c.1054T>A (p.Cys352Ser) rs879254769
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)
NM_000527.5(LDLR):c.1073G>A (p.Cys358Tyr) rs875989915
NM_000527.5(LDLR):c.1145G>T (p.Gly382Val) rs752951310
NM_000527.5(LDLR):c.1174T>A (p.Cys392Ser)
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
NM_000527.5(LDLR):c.1208T>C (p.Phe403Ser)
NM_000527.5(LDLR):c.1223A>T (p.Glu408Val) rs879254838
NM_000527.5(LDLR):c.1277T>G (p.Leu426Arg) rs879254851
NM_000527.5(LDLR):c.1300A>C (p.Thr434Pro) rs1555805237
NM_000527.5(LDLR):c.1304_1307delinsTGGC (p.Glu435_Val436delinsValAla)
NM_000527.5(LDLR):c.1307T>A (p.Val436Glu) rs779732323
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>A (p.Gly478Arg)
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.1586+5G>A rs781362878
NM_000527.5(LDLR):c.1693G>C (p.Gly565Arg)
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.1724T>C (p.Leu575Pro) rs1249568272
NM_000527.5(LDLR):c.1739C>T (p.Ser580Phe) rs934496989
NM_000527.5(LDLR):c.1775G>T (p.Gly592Val)
NM_000527.5(LDLR):c.1796T>C (p.Leu599Ser) rs879255025
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.188G>A (p.Cys63Tyr) rs879254427
NM_000527.5(LDLR):c.1916T>A (p.Val639Asp) rs794728584
NM_000527.5(LDLR):c.1987+2T>G rs1600742966
NM_000527.5(LDLR):c.1988-2A>G rs879255101
NM_000527.5(LDLR):c.2023G>A (p.Gly675Ser) rs770744861
NM_000527.5(LDLR):c.2042G>A (p.Cys681Tyr) rs201637900
NM_000527.5(LDLR):c.2086T>A (p.Cys696Ser)
NM_000527.5(LDLR):c.2086T>G (p.Cys696Gly)
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
NM_000527.5(LDLR):c.224G>A (p.Cys75Tyr) rs875989890
NM_000527.5(LDLR):c.2312-2A>C
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.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.245G>A (p.Cys82Tyr) rs879254448
NM_000527.5(LDLR):c.246C>G (p.Cys82Trp)
NM_000527.5(LDLR):c.2473_2475del (p.Asn825del)
NM_000527.5(LDLR):c.2476C>A (p.Pro826Thr) rs879255217
NM_000527.5(LDLR):c.2483A>G (p.Tyr828Cys)
NM_000527.5(LDLR):c.257_265del (p.Phe86_Arg88del) rs879254451
NM_000527.5(LDLR):c.28T>C (p.Trp10Arg)
NM_000527.5(LDLR):c.298G>A (p.Asp100Asn) rs879254459
NM_000527.5(LDLR):c.302A>C (p.Glu101Ala)
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
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>T (p.Cys160Phe) rs879254541
NM_000527.5(LDLR):c.515A>C (p.Asp172Ala)
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)
NM_000527.5(LDLR):c.533A>G (p.Asp178Gly) rs875989902
NM_000527.5(LDLR):c.534T>G (p.Asp178Glu) rs879254566
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.661G>A (p.Asp221Asn) rs875989906
NM_000527.5(LDLR):c.665_679dup (p.Ser226_Asp227insGlyLysAspLysSer)
NM_000527.5(LDLR):c.670G>C (p.Asp224His)
NM_000527.5(LDLR):c.677C>T (p.Ser226Phe)
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.827G>A (p.Cys276Tyr) rs730882089
NM_000527.5(LDLR):c.851G>A (p.Cys284Tyr)
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)
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.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.2573G>A (p.Arg858His) rs786205753
NM_000719.7(CACNA1C):c.3631A>G (p.Lys1211Glu) rs786205759
NM_000891.3(KCNJ2):c.245G>A (p.Arg82Gln) rs199473653
NM_000891.3(KCNJ2):c.425C>T (p.Thr142Ile)
NM_000891.3(KCNJ2):c.919A>G (p.Met307Val) rs1555603994
NM_001005242.3(PKP2):c.1034+1G>C rs869025496
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.2385del (p.Ala796fs)
NM_001010874.5(TECRL):c.809TGT[1] (p.Leu271del)
NM_001018005.2(TPM1):c.250G>A (p.Asp84Asn) rs754664923
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.533G>A (p.Arg178His) rs397516375
NM_001018005.2(TPM1):c.560A>T (p.Glu187Val) rs786204411
NM_001018005.2(TPM1):c.725C>T (p.Ala242Val) rs397516387
NM_001035.3(RYR2):c.1172C>A (p.Ala391Asp) rs374306538
NM_001035.3(RYR2):c.12325A>G (p.Met4109Val) rs730880196
NM_001035.3(RYR2):c.12419G>C (p.Gly4140Ala)
NM_001035.3(RYR2):c.12533A>G (p.Asn4178Ser) rs794728787
NM_001035.3(RYR2):c.14251A>C (p.Lys4751Gln) rs794728802
NM_001035.3(RYR2):c.14861C>G (p.Ala4954Gly)
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001035.3(RYR2):c.230C>T (p.Ala77Val) rs1060500142
NM_001035.3(RYR2):c.505C>G (p.Arg169Gly)
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_001037.5(SCN1B):c.253C>T (p.Arg85Cys) rs786205830
NM_001077653.2(TBX20):c.130C>T (p.Gln44Ter)
NM_001077653.2(TBX20):c.139G>T (p.Glu47Ter)
NM_001077653.2(TBX20):c.205G>T (p.Gly69Ter)
NM_001077653.2(TBX20):c.418dup (p.Val140fs) rs1562567739
NM_001077653.2(TBX20):c.697dup (p.Ile233fs) rs2128714664
NM_001079802.2(FKTN):c.1175dup (p.Tyr392Ter)
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.683T>C (p.Met228Thr) rs786205144
NM_001114753.3(ENG):c.1109T>C (p.Leu370Pro)
NM_001114753.3(ENG):c.1120A>G (p.Lys374Glu)
NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser) rs2131885751
NM_001114753.3(ENG):c.1134+1G>T
NM_001114753.3(ENG):c.1146C>G (p.Cys382Trp)
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.1310G>C (p.Arg437Pro)
NM_001114753.3(ENG):c.1312-2A>G
NM_001114753.3(ENG):c.1319T>G (p.Val440Gly) rs1554809363
NM_001114753.3(ENG):c.1429-2del
NM_001114753.3(ENG):c.1469T>C (p.Leu490Ser) rs763475207
NM_001114753.3(ENG):c.1517T>C (p.Leu506Pro)
NM_001114753.3(ENG):c.155G>A (p.Gly52Asp) rs1564462765
NM_001114753.3(ENG):c.157T>C (p.Cys53Arg)
NM_001114753.3(ENG):c.1686+1G>C
NM_001114753.3(ENG):c.1687-1G>A rs1554809106
NM_001114753.3(ENG):c.1733_1737del (p.Asp578fs)
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+5G>A rs1060501417
NM_001114753.3(ENG):c.503TCC[2] (p.Leu170del)
NM_001114753.3(ENG):c.506T>C (p.Leu169Pro)
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
NM_001114753.3(ENG):c.545G>A (p.Cys182Tyr)
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)
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
NM_001114753.3(ENG):c.832T>C (p.Ser278Pro)
NM_001114753.3(ENG):c.899T>C (p.Leu300Pro) rs1335718486
NM_001114753.3(ENG):c.917T>C (p.Leu306Pro)
NM_001114753.3(ENG):c.95T>A (p.Leu32His)
NM_001134363.3(RBM20):c.1901G>T (p.Arg634Leu) rs267607001
NM_001134363.3(RBM20):c.1909A>G (p.Ser637Gly) rs267607005
NM_001232.4(CASQ2):c.199C>T (p.Gln67Ter)
NM_001232.4(CASQ2):c.235-2A>G rs1060502164
NM_001232.4(CASQ2):c.319+2T>G
NM_001232.4(CASQ2):c.381C>T (p.Gly127=) rs775663612
NM_001232.4(CASQ2):c.532+1G>A
NM_001232.4(CASQ2):c.925del (p.Asp309fs)
NM_001232.4(CASQ2):c.939+5G>C rs746128346
NM_001267550.2(TTN):c.100704C>A (p.Tyr33568Ter) rs1553501227
NM_001267550.2(TTN):c.100742dup (p.Thr33582fs)
NM_001267550.2(TTN):c.100825C>T (p.Arg33609Ter) rs1057518195
NM_001267550.2(TTN):c.101098delinsCT (p.Asp33700fs) rs794729367
NM_001267550.2(TTN):c.101728G>T (p.Glu33910Ter) rs943777958
NM_001267550.2(TTN):c.101789del (p.Leu33930fs) rs1575285509
NM_001267550.2(TTN):c.101992_101993del (p.Met33998fs)
NM_001267550.2(TTN):c.101997G>A (p.Trp33999Ter)
NM_001267550.2(TTN):c.102057del (p.Asn34020fs) rs1690605753
NM_001267550.2(TTN):c.10219del (p.Tyr3407fs)
NM_001267550.2(TTN):c.102234_102235del (p.Arg34079fs)
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)
NM_001267550.2(TTN):c.10285_10288dup (p.Asn3430fs) rs2088191243
NM_001267550.2(TTN):c.102876_102877delinsAT (p.Tyr34292_Lys34293delinsTer)
NM_001267550.2(TTN):c.103117_103124del (p.Glu34373fs)
NM_001267550.2(TTN):c.103303del (p.Arg34435fs)
NM_001267550.2(TTN):c.103322_103323dup (p.Ala34442fs)
NM_001267550.2(TTN):c.103705A>T (p.Lys34569Ter) rs1553490574
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.104170_104174del (p.Lys34724fs) rs2154134297
NM_001267550.2(TTN):c.104197dup (p.Ile34733fs)
NM_001267550.2(TTN):c.104265C>G (p.Tyr34755Ter)
NM_001267550.2(TTN):c.104393del (p.Lys34798fs)
NM_001267550.2(TTN):c.104515C>T (p.Arg34839Ter) rs1553488049
NM_001267550.2(TTN):c.104573del (p.Ile34858fs)
NM_001267550.2(TTN):c.104653C>T (p.Arg34885Ter) rs1057518003
NM_001267550.2(TTN):c.104753T>A (p.Leu34918Ter)
NM_001267550.2(TTN):c.104924G>A (p.Trp34975Ter)
NM_001267550.2(TTN):c.104941G>T (p.Glu34981Ter)
NM_001267550.2(TTN):c.105161del (p.Pro35054fs)
NM_001267550.2(TTN):c.105190_105191del (p.Val35064fs) rs770878165
NM_001267550.2(TTN):c.105613_105614del (p.Asn35205fs)
NM_001267550.2(TTN):c.106259_106271del (p.Pro35420fs)
NM_001267550.2(TTN):c.106836_106837del (p.Ser35613fs)
NM_001267550.2(TTN):c.11311+1G>T rs1553963537
NM_001267550.2(TTN):c.11722A>T (p.Lys3908Ter)
NM_001267550.2(TTN):c.12268C>T (p.Gln4090Ter) rs1574087037
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.12870dup (p.Val4291fs) rs869025556
NM_001267550.2(TTN):c.13117C>T (p.Gln4373Ter) rs1064793411
NM_001267550.2(TTN):c.13174A>T (p.Arg4392Ter)
NM_001267550.2(TTN):c.13181_13182del (p.Asn4394fs)
NM_001267550.2(TTN):c.13192C>T (p.Gln4398Ter)
NM_001267550.2(TTN):c.13697_13701del (p.Gln4566fs)
NM_001267550.2(TTN):c.13729G>T (p.Glu4577Ter)
NM_001267550.2(TTN):c.13937C>G (p.Ser4646Ter)
NM_001267550.2(TTN):c.14301C>A (p.Cys4767Ter)
NM_001267550.2(TTN):c.2089A>T (p.Lys697Ter) rs1554023044
NM_001267550.2(TTN):c.40508T>G (p.Leu13503Ter) rs974323028
NM_001267550.2(TTN):c.40537del (p.Glu13513fs) rs1553756349
NM_001267550.2(TTN):c.41120_41123del (p.Glu13707fs)
NM_001267550.2(TTN):c.41202del (p.Phe13734fs)
NM_001267550.2(TTN):c.41222_41223del (p.Arg13741fs) rs1436937190
NM_001267550.2(TTN):c.41367dup (p.Val13790fs)
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.41581G>T (p.Glu13861Ter) rs2154230108
NM_001267550.2(TTN):c.42154del (p.Ile14052fs)
NM_001267550.2(TTN):c.42486_42489del (p.Cys14163fs) rs797046064
NM_001267550.2(TTN):c.42507_42508delinsT (p.Lys14169fs)
NM_001267550.2(TTN):c.42598_42599insG (p.Met14200fs) rs1553742630
NM_001267550.2(TTN):c.42614_42635delinsCCTTCAGGGGCACAGCAAAGTCAAGG (p.Leu14205fs)
NM_001267550.2(TTN):c.42639dup (p.Gln14214fs) rs2060106818
NM_001267550.2(TTN):c.42786del (p.Trp14262fs)
NM_001267550.2(TTN):c.42807_42819dup (p.Lys14274fs)
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.43538del (p.Ser14513fs)
NM_001267550.2(TTN):c.43816C>T (p.Gln14606Ter)
NM_001267550.2(TTN):c.44035C>T (p.Arg14679Ter) rs776970935
NM_001267550.2(TTN):c.44046_44047del (p.His14682fs)
NM_001267550.2(TTN):c.44067_44068del (p.Glu14690fs)
NM_001267550.2(TTN):c.44143del (p.Leu14715fs)
NM_001267550.2(TTN):c.44149del (p.Thr14717fs)
NM_001267550.2(TTN):c.44170_44173del (p.Glu14724fs)
NM_001267550.2(TTN):c.44281+1G>A rs771562210
NM_001267550.2(TTN):c.44831del (p.Phe14944fs)
NM_001267550.2(TTN):c.44840del (p.Pro14947fs)
NM_001267550.2(TTN):c.44878C>T (p.Arg14960Ter) rs2058478213
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)
NM_001267550.2(TTN):c.45316_45320dup (p.Arg15108fs) rs794729390
NM_001267550.2(TTN):c.45433_45445delinsGG (p.Lys15145fs)
NM_001267550.2(TTN):c.45616G>T (p.Glu15206Ter) rs796314079
NM_001267550.2(TTN):c.45617-1G>C
NM_001267550.2(TTN):c.45823_45848del (p.Ala15275fs)
NM_001267550.2(TTN):c.46337_46338del (p.Arg15446fs)
NM_001267550.2(TTN):c.46344dup (p.Ile15449fs)
NM_001267550.2(TTN):c.46374_46375dup (p.Glu15459fs) rs2154210696
NM_001267550.2(TTN):c.46421_46422del (p.Phe15474fs)
NM_001267550.2(TTN):c.46603C>T (p.Arg15535Ter) rs764654357
NM_001267550.2(TTN):c.46668_46671del (p.Glu15557fs)
NM_001267550.2(TTN):c.47137_47138del (p.Ser15713fs) rs886039125
NM_001267550.2(TTN):c.47487_47488del (p.Tyr15829_Ser15830delinsTer) rs1447249014
NM_001267550.2(TTN):c.47779G>T (p.Gly15927Ter)
NM_001267550.2(TTN):c.47797A>T (p.Arg15933Ter) rs2057499255
NM_001267550.2(TTN):c.48119del (p.Arg16040fs)
NM_001267550.2(TTN):c.48248_48251del (p.Gly16083fs)
NM_001267550.2(TTN):c.48264del (p.Gly16089fs) rs2154208052
NM_001267550.2(TTN):c.48286G>T (p.Glu16096Ter)
NM_001267550.2(TTN):c.48502del (p.Thr16168fs)
NM_001267550.2(TTN):c.48638+2T>G
NM_001267550.2(TTN):c.48760+1G>T
NM_001267550.2(TTN):c.48760G>T (p.Glu16254Ter)
NM_001267550.2(TTN):c.49171C>T (p.Arg16391Ter) rs570046043
NM_001267550.2(TTN):c.49338T>A (p.Tyr16446Ter)
NM_001267550.2(TTN):c.49346-1G>A rs869312070
NM_001267550.2(TTN):c.49378dup (p.Ser16460fs)
NM_001267550.2(TTN):c.49500C>A (p.Cys16500Ter)
NM_001267550.2(TTN):c.49560dup (p.Tyr16521fs)
NM_001267550.2(TTN):c.49658G>A (p.Trp16553Ter)
NM_001267550.2(TTN):c.49793G>A (p.Trp16598Ter)
NM_001267550.2(TTN):c.49858G>T (p.Glu16620Ter) rs1553699454
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)
NM_001267550.2(TTN):c.50296C>T (p.Arg16766Ter) rs754866489
NM_001267550.2(TTN):c.50315G>A (p.Trp16772Ter)
NM_001267550.2(TTN):c.50330del (p.Asn16777fs)
NM_001267550.2(TTN):c.50358T>A (p.Tyr16786Ter) rs72677249
NM_001267550.2(TTN):c.50375_50378del (p.Glu16792fs)
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)
NM_001267550.2(TTN):c.50859del (p.Asp16952_Cys16953insTer)
NM_001267550.2(TTN):c.51127A>T (p.Lys17043Ter) rs794729269
NM_001267550.2(TTN):c.51129dup (p.Val17044fs)
NM_001267550.2(TTN):c.51203_51224dup (p.Thr17077_Pro17078insSerArgIleTerGlyThr) rs2154198963
NM_001267550.2(TTN):c.51424C>T (p.Gln17142Ter)
NM_001267550.2(TTN):c.51436C>T (p.Gln17146Ter) rs906494713
NM_001267550.2(TTN):c.51444del (p.Asp17149fs) rs1362409861
NM_001267550.2(TTN):c.51503G>A (p.Trp17168Ter)
NM_001267550.2(TTN):c.51528del (p.Ser17177fs)
NM_001267550.2(TTN):c.51624_51654dup (p.Gln17219delinsSerLysArgThrTer) rs1553692107
NM_001267550.2(TTN):c.51667C>T (p.Arg17223Ter) rs748956593
NM_001267550.2(TTN):c.51965dup (p.Leu17322fs)
NM_001267550.2(TTN):c.52041T>A (p.Tyr17347Ter)
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.52975C>T (p.Gln17659Ter) rs2154197188
NM_001267550.2(TTN):c.53026_53027del (p.Val17676fs)
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)
NM_001267550.2(TTN):c.53535del (p.Cys17845fs)
NM_001267550.2(TTN):c.53543del (p.Pro17848fs)
NM_001267550.2(TTN):c.53599G>T (p.Glu17867Ter) rs1131691381
NM_001267550.2(TTN):c.53616del (p.Glu17873fs)
NM_001267550.2(TTN):c.53649G>A (p.Trp17883Ter)
NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter) rs727503607
NM_001267550.2(TTN):c.54023_54024insC (p.Glu18008fs)
NM_001267550.2(TTN):c.54067C>T (p.Arg18023Ter) rs1553682168
NM_001267550.2(TTN):c.54259del (p.Asp18087fs)
NM_001267550.2(TTN):c.54320dup (p.Ser18108fs) rs2054384043
NM_001267550.2(TTN):c.54392_54393dup (p.Ile18132fs)
NM_001267550.2(TTN):c.54427del (p.Ala18143fs)
NM_001267550.2(TTN):c.54638G>A (p.Trp18213Ter) rs727503602
NM_001267550.2(TTN):c.54652C>T (p.Arg18218Ter)
NM_001267550.2(TTN):c.54811+1G>A rs1205836993
NM_001267550.2(TTN):c.54812-2A>T
NM_001267550.2(TTN):c.54976_54979del (p.Asp18326fs)
NM_001267550.2(TTN):c.55129_55130insC (p.Glu18377fs) rs2154193431
NM_001267550.2(TTN):c.55269+1G>A
NM_001267550.2(TTN):c.55403dup (p.Thr18469fs)
NM_001267550.2(TTN):c.55492del (p.Leu18498fs)
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)
NM_001267550.2(TTN):c.56287_56288dup (p.Ile18764fs)
NM_001267550.2(TTN):c.56440_56443del (p.Gly18814fs)
NM_001267550.2(TTN):c.56473del (p.Arg18825fs)
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.56641del (p.Leu18881fs)
NM_001267550.2(TTN):c.56720del (p.Glu18907fs)
NM_001267550.2(TTN):c.56792G>A (p.Trp18931Ter) rs1060500526
NM_001267550.2(TTN):c.56940_56957delinsT (p.Ala18981fs)
NM_001267550.2(TTN):c.56978dup (p.Phe18994fs)
NM_001267550.2(TTN):c.57057del (p.Lys19019_Val19020insTer) rs1553662326
NM_001267550.2(TTN):c.57262+1G>A
NM_001267550.2(TTN):c.57277del (p.Gln19093fs)
NM_001267550.2(TTN):c.57334del (p.Ile19112fs)
NM_001267550.2(TTN):c.57377G>A (p.Trp19126Ter)
NM_001267550.2(TTN):c.57518_57521del (p.Lys19173fs)
NM_001267550.2(TTN):c.58157dup (p.Thr19387fs)
NM_001267550.2(TTN):c.58290dup (p.Asp19431Ter)
NM_001267550.2(TTN):c.58474_58480del (p.Val19492fs)
NM_001267550.2(TTN):c.58606A>T (p.Lys19536Ter)
NM_001267550.2(TTN):c.58788_58795dup (p.Thr19599delinsAsnTer)
NM_001267550.2(TTN):c.58838del (p.Tyr19613fs) rs1576141328
NM_001267550.2(TTN):c.58925del (p.Pro19642fs)
NM_001267550.2(TTN):c.59127del (p.Ser19710fs) rs2050559188
NM_001267550.2(TTN):c.59201_59202del (p.Pro19734fs) rs752948913
NM_001267550.2(TTN):c.59205del (p.Glu19735fs) rs397517643
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)
NM_001267550.2(TTN):c.59602_59603del (p.Val19868fs)
NM_001267550.2(TTN):c.59605dup (p.Ser19869fs)
NM_001267550.2(TTN):c.59763del (p.Ser19921fs) rs1559599859
NM_001267550.2(TTN):c.59767C>T (p.Gln19923Ter)
NM_001267550.2(TTN):c.59848C>T (p.Arg19950Ter) rs1559598775
NM_001267550.2(TTN):c.59977G>T (p.Glu19993Ter) rs1085307825
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.60716del (p.Gly20239fs)
NM_001267550.2(TTN):c.60837_60840delinsAA (p.Val20280fs)
NM_001267550.2(TTN):c.60902del (p.Ser20301fs) rs1553643140
NM_001267550.2(TTN):c.60931C>T (p.Arg20311Ter) rs869312055
NM_001267550.2(TTN):c.61394_61395del (p.Val20465fs) rs2154184320
NM_001267550.2(TTN):c.61555C>T (p.Arg20519Ter) rs794729278
NM_001267550.2(TTN):c.61612del (p.Glu20538fs)
NM_001267550.2(TTN):c.61637dup (p.Tyr20547fs) rs886039084
NM_001267550.2(TTN):c.61770G>A (p.Trp20590Ter)
NM_001267550.2(TTN):c.61855del (p.Val20619fs)
NM_001267550.2(TTN):c.61890del (p.Asn20631fs)
NM_001267550.2(TTN):c.62131_62135dup (p.Asp20713fs)
NM_001267550.2(TTN):c.62197_62198insC (p.Cys20733fs)
NM_001267550.2(TTN):c.62506C>T (p.Arg20836Ter) rs757231565
NM_001267550.2(TTN):c.62627del (p.Val20876fs) rs1553640190
NM_001267550.2(TTN):c.62654G>A (p.Trp20885Ter)
NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter) rs543860009
NM_001267550.2(TTN):c.62935G>T (p.Glu20979Ter) rs1306891128
NM_001267550.2(TTN):c.63142_63143del (p.Glu21048fs)
NM_001267550.2(TTN):c.63467del (p.Pro21156fs)
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter) rs764243269
NM_001267550.2(TTN):c.63722delinsAA (p.Ser21241Ter) rs2049307995
NM_001267550.2(TTN):c.63898_63899del (p.His21300fs)
NM_001267550.2(TTN):c.64011C>A (p.Tyr21337Ter) rs1553636324
NM_001267550.2(TTN):c.64243del (p.Trp21415fs)
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
NM_001267550.2(TTN):c.64453C>T (p.Arg21485Ter) rs768345594
NM_001267550.2(TTN):c.64468del (p.Val21490fs)
NM_001267550.2(TTN):c.64586_64587del (p.Val21529fs)
NM_001267550.2(TTN):c.64688del (p.Pro21563fs) rs774395395
NM_001267550.2(TTN):c.64810C>T (p.Arg21604Ter)
NM_001267550.2(TTN):c.64849del (p.Thr21617fs)
NM_001267550.2(TTN):c.64999C>T (p.Arg21667Ter) rs794729280
NM_001267550.2(TTN):c.65040G>A (p.Trp21680Ter)
NM_001267550.2(TTN):c.65324dup (p.Leu21776fs)
NM_001267550.2(TTN):c.6532C>T (p.Gln2178Ter) rs1193046655
NM_001267550.2(TTN):c.65449del (p.Glu21817fs)
NM_001267550.2(TTN):c.65536del (p.Ser21846fs)
NM_001267550.2(TTN):c.65704_65712delinsT (p.Gly21901_Thr21902insTer)
NM_001267550.2(TTN):c.66059_66060del (p.Leu22020fs)
NM_001267550.2(TTN):c.66159T>A (p.Tyr22053Ter)
NM_001267550.2(TTN):c.66176dup (p.Cys22059fs)
NM_001267550.2(TTN):c.66464-2A>G rs1575921187
NM_001267550.2(TTN):c.66679C>T (p.Gln22227Ter)
NM_001267550.2(TTN):c.66846T>G (p.Tyr22282Ter)
NM_001267550.2(TTN):c.66968del (p.Asn22323fs) rs2154176360
NM_001267550.2(TTN):c.67028dup (p.Glu22344fs)
NM_001267550.2(TTN):c.67609del (p.Ile22537fs) rs1553622205
NM_001267550.2(TTN):c.67637-1G>C rs886038831
NM_001267550.2(TTN):c.6820C>T (p.Gln2274Ter) rs145649088
NM_001267550.2(TTN):c.68308del (p.Thr22770fs) rs1064796112
NM_001267550.2(TTN):c.68350G>T (p.Glu22784Ter)
NM_001267550.2(TTN):c.68370G>A (p.Trp22790Ter)
NM_001267550.2(TTN):c.68641C>T (p.Arg22881Ter) rs1213930919
NM_001267550.2(TTN):c.68746_68749dup (p.Arg22917delinsAsnTer)
NM_001267550.2(TTN):c.68862dup (p.Gly22955fs)
NM_001267550.2(TTN):c.68993C>A (p.Ser22998Ter)
NM_001267550.2(TTN):c.69078del (p.Phe23026fs)
NM_001267550.2(TTN):c.69131del (p.Pro23044fs) rs2154173603
NM_001267550.2(TTN):c.69131dup (p.Gly23045fs)
NM_001267550.2(TTN):c.69244del (p.Thr23082fs)
NM_001267550.2(TTN):c.69422_69423delinsAAAAGGA (p.Gly23141fs)
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)
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.69999del (p.Glu23334fs)
NM_001267550.2(TTN):c.70000del (p.Glu23334fs) rs1131691811
NM_001267550.2(TTN):c.70137_70138delinsTTCAGGTTG (p.Lys23380delinsSerGlyTer)
NM_001267550.2(TTN):c.70162C>T (p.Arg23388Ter) rs781540455
NM_001267550.2(TTN):c.70210_70223delinsTTTACTCTTC (p.Glu23404fs) rs1553614347
NM_001267550.2(TTN):c.70378_70379del (p.Leu23460fs)
NM_001267550.2(TTN):c.70699dup (p.Tyr23567fs)
NM_001267550.2(TTN):c.70794del (p.Glu23599fs) rs1553612904
NM_001267550.2(TTN):c.70890_70891del (p.Pro23631fs)
NM_001267550.2(TTN):c.70915delinsAGAAACTGACC (p.Tyr23639delinsArgAsnTer)
NM_001267550.2(TTN):c.71007del (p.Gly23670fs)
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.71242del (p.Trp23748fs) rs1060500514
NM_001267550.2(TTN):c.71421T>G (p.Tyr23807Ter)
NM_001267550.2(TTN):c.71491_71492insT (p.Gly23831fs)
NM_001267550.2(TTN):c.71634del (p.Ala23879fs) rs727503565
NM_001267550.2(TTN):c.71661del (p.Lys23887fs)
NM_001267550.2(TTN):c.71685_71686insAAATA (p.Ala23896delinsLysTer) rs1709360511
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.72613del (p.Val24205fs) rs1708996209
NM_001267550.2(TTN):c.72632C>G (p.Ser24211Ter)
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)
NM_001267550.2(TTN):c.73200T>A (p.Tyr24400Ter)
NM_001267550.2(TTN):c.73324_73331dup (p.Cys24444fs)
NM_001267550.2(TTN):c.73385_73386delinsC (p.Trp24462fs)
NM_001267550.2(TTN):c.73469dup (p.Asn24490fs)
NM_001267550.2(TTN):c.73508del (p.Asn24503fs) rs886038839
NM_001267550.2(TTN):c.7365_7374del (p.Asn2455fs) rs794729397
NM_001267550.2(TTN):c.73939C>T (p.Arg24647Ter) rs2154169928
NM_001267550.2(TTN):c.74338C>T (p.Arg24780Ter) rs794729285
NM_001267550.2(TTN):c.74368_74372del (p.Lys24789_Leu24790insTer)
NM_001267550.2(TTN):c.74381_74382del (p.Ala24794fs)
NM_001267550.2(TTN):c.74608del (p.Ala24870fs) rs878854332
NM_001267550.2(TTN):c.74865G>A (p.Trp24955Ter)
NM_001267550.2(TTN):c.74901del (p.Lys24967fs)
NM_001267550.2(TTN):c.7498C>T (p.Gln2500Ter) rs1561253718
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)
NM_001267550.2(TTN):c.75479_75482del (p.Ile25160fs) rs1553603364
NM_001267550.2(TTN):c.75507_75508del (p.Ser25170fs)
NM_001267550.2(TTN):c.75542_75554del (p.Asn25181fs)
NM_001267550.2(TTN):c.75568del (p.Ala25190fs)
NM_001267550.2(TTN):c.7557del (p.Gly2520fs)
NM_001267550.2(TTN):c.75633_75636dup (p.Val25213fs) rs1553603036
NM_001267550.2(TTN):c.75663del (p.Lys25221fs) rs1131691542
NM_001267550.2(TTN):c.75974G>A (p.Trp25325Ter) rs1553602546
NM_001267550.2(TTN):c.76238_76239del (p.Lys25413fs)
NM_001267550.2(TTN):c.76240dup (p.Val25414fs) rs1707514832
NM_001267550.2(TTN):c.76293T>G (p.Tyr25431Ter)
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)
NM_001267550.2(TTN):c.76403del (p.Val25468fs)
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)
NM_001267550.2(TTN):c.76717C>T (p.Arg25573Ter) rs767450912
NM_001267550.2(TTN):c.76779del (p.Phe25593fs)
NM_001267550.2(TTN):c.76940C>G (p.Ser25647Ter)
NM_001267550.2(TTN):c.76953del (p.Val25651_Val25652insTer)
NM_001267550.2(TTN):c.76990C>T (p.Gln25664Ter)
NM_001267550.2(TTN):c.77100dup (p.Pro25701fs) rs794729343
NM_001267550.2(TTN):c.77120_77121del (p.Val25707fs)
NM_001267550.2(TTN):c.77183del (p.Ser25728fs)
NM_001267550.2(TTN):c.77227G>T (p.Glu25743Ter) rs765997807
NM_001267550.2(TTN):c.77230A>T (p.Lys25744Ter)
NM_001267550.2(TTN):c.77237C>A (p.Ser25746Ter)
NM_001267550.2(TTN):c.77437C>T (p.Gln25813Ter) rs794729287
NM_001267550.2(TTN):c.77493G>A (p.Trp25831Ter)
NM_001267550.2(TTN):c.77546C>A (p.Ser25849Ter)
NM_001267550.2(TTN):c.77646_77662delinsAGA (p.Ile25883fs) rs794729345
NM_001267550.2(TTN):c.7766del (p.Lys2588_Leu2589insTer)
NM_001267550.2(TTN):c.77884del (p.Gln25962fs)
NM_001267550.2(TTN):c.77933_77951del (p.Glu25978fs) rs1553597801
NM_001267550.2(TTN):c.78197dup (p.Tyr26066Ter) rs1553596594
NM_001267550.2(TTN):c.78348dup (p.Gly26117fs)
NM_001267550.2(TTN):c.78404G>A (p.Trp26135Ter) rs1064793668
NM_001267550.2(TTN):c.78425del (p.Asn26142fs)
NM_001267550.2(TTN):c.78489dup (p.Ile26164fs)
NM_001267550.2(TTN):c.78563_78566dup (p.Glu26189delinsAspTer)
NM_001267550.2(TTN):c.78588_78624dup (p.Glu26209fs) rs1706342425
NM_001267550.2(TTN):c.78749del (p.Leu26250fs) rs1064793285
NM_001267550.2(TTN):c.79275_79276del (p.Asp26427fs)
NM_001267550.2(TTN):c.79294C>T (p.Arg26432Ter) rs774411587
NM_001267550.2(TTN):c.79447dup (p.Asp26483fs) rs886039211
NM_001267550.2(TTN):c.79603C>T (p.Gln26535Ter) rs1064793911
NM_001267550.2(TTN):c.79712T>G (p.Leu26571Ter)
NM_001267550.2(TTN):c.79717G>T (p.Glu26573Ter) rs1705879851
NM_001267550.2(TTN):c.79780del (p.Asp26595fs)
NM_001267550.2(TTN):c.79797_79822dup (p.Gly26608delinsGluLysGluLeuLeuTer) rs2154165475
NM_001267550.2(TTN):c.80174_80202dup (p.Ser26735delinsGlnProGluLysArgMetLeuMetTer) rs2154165199
NM_001267550.2(TTN):c.80328del (p.Ala26777fs)
NM_001267550.2(TTN):c.80365_80432del (p.Leu26789fs) rs1575674631
NM_001267550.2(TTN):c.80371dup (p.Asp26791fs)
NM_001267550.2(TTN):c.80380C>T (p.Gln26794Ter) rs2154165062
NM_001267550.2(TTN):c.80584del (p.Ser26862fs) rs794729348
NM_001267550.2(TTN):c.80651T>A (p.Leu26884Ter)
NM_001267550.2(TTN):c.80850C>G (p.Tyr26950Ter) rs794729291
NM_001267550.2(TTN):c.80855_80856dup (p.Thr26953Ter)
NM_001267550.2(TTN):c.80950G>T (p.Glu26984Ter) rs1060500562
NM_001267550.2(TTN):c.81126del (p.Glu27042fs) rs1553579429
NM_001267550.2(TTN):c.81159T>A (p.Tyr27053Ter)
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.81522_81529del (p.Pro27174_Gly27175insTer)
NM_001267550.2(TTN):c.81618_86068del (p.Val27207fs)
NM_001267550.2(TTN):c.81758del (p.Asn27253fs) rs2154162603
NM_001267550.2(TTN):c.82184T>A (p.Leu27395Ter)
NM_001267550.2(TTN):c.82186dup (p.Gln27396fs)
NM_001267550.2(TTN):c.82273C>T (p.Gln27425Ter) rs371332011
NM_001267550.2(TTN):c.82310_82311del (p.Gly27437fs)
NM_001267550.2(TTN):c.82401T>G (p.Tyr27467Ter)
NM_001267550.2(TTN):c.82470G>A (p.Trp27490Ter)
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)
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)
NM_001267550.2(TTN):c.83747_83751del (p.Val27916fs)
NM_001267550.2(TTN):c.83830_83836delinsTCACT (p.Arg27944fs) rs1575633082
NM_001267550.2(TTN):c.83935C>T (p.Gln27979Ter)
NM_001267550.2(TTN):c.84109_84110del (p.Val28037fs) rs2154160413
NM_001267550.2(TTN):c.84296_84297del (p.Ser28099fs) rs1553565463
NM_001267550.2(TTN):c.8442del (p.Phe2814fs)
NM_001267550.2(TTN):c.84476del (p.Gly28159fs) rs1553564694
NM_001267550.2(TTN):c.84557dup (p.Ile28187fs) rs1553564589
NM_001267550.2(TTN):c.84583G>T (p.Glu28195Ter)
NM_001267550.2(TTN):c.84643A>T (p.Lys28215Ter) rs2154159715
NM_001267550.2(TTN):c.84819del (p.Trp28273fs) rs2154159514
NM_001267550.2(TTN):c.85150C>T (p.Arg28384Ter) rs1703437679
NM_001267550.2(TTN):c.85408_85409del (p.Leu28470fs) rs2154159007
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.86105_86108del (p.Ile28702fs)
NM_001267550.2(TTN):c.86267_86268del (p.Ile28756fs)
NM_001267550.2(TTN):c.86413_86417delinsATGG (p.Asp28805fs)
NM_001267550.2(TTN):c.86426C>G (p.Ser28809Ter) rs1553560951
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)
NM_001267550.2(TTN):c.87295_87296insT (p.Asn29099fs)
NM_001267550.2(TTN):c.87296dup (p.Asn29099fs)
NM_001267550.2(TTN):c.87381_87424dup (p.Thr29142delinsLysLeuSerLeuThrLeuLeuCysTer)
NM_001267550.2(TTN):c.87515dup (p.Asn29172fs)
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)
NM_001267550.2(TTN):c.87835del (p.Arg29279fs) rs2154155616
NM_001267550.2(TTN):c.87841_87842del (p.Ser29281fs)
NM_001267550.2(TTN):c.87939T>G (p.Tyr29313Ter) rs200314496
NM_001267550.2(TTN):c.88000del (p.Asp29334fs)
NM_001267550.2(TTN):c.88091_88094del (p.Gly29364fs) rs2154155280
NM_001267550.2(TTN):c.88184del (p.Phe29395fs) rs1553551651
NM_001267550.2(TTN):c.88422G>A (p.Trp29474Ter) rs1553547657
NM_001267550.2(TTN):c.88636_88637del (p.Val29546fs)
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)
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.89178C>G (p.Tyr29726Ter)
NM_001267550.2(TTN):c.89222_89226del (p.Ile29741fs) rs1575534947
NM_001267550.2(TTN):c.89288del (p.Gly29763fs) rs1575534208
NM_001267550.2(TTN):c.89839C>T (p.Arg29947Ter) rs727505224
NM_001267550.2(TTN):c.90286_90292del (p.Gln30096fs)
NM_001267550.2(TTN):c.9047del (p.Met3016fs)
NM_001267550.2(TTN):c.90628del (p.Val30210fs) rs2154151163
NM_001267550.2(TTN):c.90721dup (p.Ser30241fs)
NM_001267550.2(TTN):c.90760G>T (p.Gly30254Ter) rs1060500495
NM_001267550.2(TTN):c.90827dup (p.Cys30276fs)
NM_001267550.2(TTN):c.90900_90901del (p.Arg30300fs)
NM_001267550.2(TTN):c.90935del (p.Val30312fs)
NM_001267550.2(TTN):c.91113G>A (p.Trp30371Ter) rs1553538469
NM_001267550.2(TTN):c.91192del (p.Arg30398fs)
NM_001267550.2(TTN):c.91352dup (p.Ser30452fs)
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.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)
NM_001267550.2(TTN):c.91859del (p.Pro30620fs)
NM_001267550.2(TTN):c.91875del (p.Pro30626fs) rs757451467
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)
NM_001267550.2(TTN):c.92404G>T (p.Gly30802Ter)
NM_001267550.2(TTN):c.92568T>A (p.Tyr30856Ter)
NM_001267550.2(TTN):c.92620G>T (p.Glu30874Ter)
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.92797C>T (p.Gln30933Ter) rs1553532356
NM_001267550.2(TTN):c.93034A>T (p.Lys31012Ter) rs2154147529
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.93735del (p.Lys31246_Val31247insTer)
NM_001267550.2(TTN):c.9395del (p.Gly3132fs)
NM_001267550.2(TTN):c.94167del (p.Phe31389fs)
NM_001267550.2(TTN):c.94180delinsTCTAGCAG (p.Pro31394fs) rs727503547
NM_001267550.2(TTN):c.94190C>A (p.Ser31397Ter)
NM_001267550.2(TTN):c.94291G>T (p.Glu31431Ter) rs1697595705
NM_001267550.2(TTN):c.94298del (p.Tyr31433fs)
NM_001267550.2(TTN):c.94405A>T (p.Lys31469Ter) rs1553524697
NM_001267550.2(TTN):c.94452T>G (p.Tyr31484Ter)
NM_001267550.2(TTN):c.94562C>G (p.Ser31521Ter)
NM_001267550.2(TTN):c.94816C>T (p.Arg31606Ter) rs1060500435
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)
NM_001267550.2(TTN):c.95452_95453delinsATATGCCAT (p.Gly31818fs)
NM_001267550.2(TTN):c.9565C>T (p.Gln3189Ter)
NM_001267550.2(TTN):c.95829_95830insG (p.Tyr31944fs)
NM_001267550.2(TTN):c.95944del (p.Ser31982fs)
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)
NM_001267550.2(TTN):c.96669G>A (p.Trp32223Ter) rs2154143423
NM_001267550.2(TTN):c.96680_96684del (p.Leu32227fs)
NM_001267550.2(TTN):c.96682dup (p.Tyr32228fs) rs2154143418
NM_001267550.2(TTN):c.96697C>T (p.Arg32233Ter) rs781171206
NM_001267550.2(TTN):c.97129_97130dup (p.Leu32379fs) rs748382770
NM_001267550.2(TTN):c.97212dup (p.Gly32405fs)
NM_001267550.2(TTN):c.97315C>T (p.Gln32439Ter) rs767837705
NM_001267550.2(TTN):c.97405_97408del (p.Glu32469fs)
NM_001267550.2(TTN):c.97405_97410delinsAC (p.Glu32469fs) rs1553515430
NM_001267550.2(TTN):c.97492+1G>C rs727505319
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)
NM_001267550.2(TTN):c.97813C>T (p.Gln32605Ter) rs1301441435
NM_001267550.2(TTN):c.97972C>T (p.Arg32658Ter)
NM_001267550.2(TTN):c.98072del (p.Gly32691fs)
NM_001267550.2(TTN):c.98074del (p.Thr32692fs)
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.9829C>T (p.Gln3277Ter)
NM_001267550.2(TTN):c.98551C>T (p.Arg32851Ter) rs553821887
NM_001267550.2(TTN):c.98628del (p.Phe32876fs)
NM_001267550.2(TTN):c.98923C>T (p.Gln32975Ter)
NM_001267550.2(TTN):c.98989+1G>A rs112240298
NM_001267550.2(TTN):c.99023_99026del (p.Leu33008fs)
NM_001267550.2(TTN):c.99081dup (p.Lys33028Ter)
NM_001267550.2(TTN):c.99425_99428del (p.Ile33142fs)
NM_001267550.2(TTN):c.99496G>T (p.Glu33166Ter) rs886038825
NM_001267550.2(TTN):c.99571C>T (p.Gln33191Ter)
NM_001267550.2(TTN):c.99719C>G (p.Ser33240Ter) rs794727539
NM_001267550.2(TTN):c.9979_9980del (p.Val3328fs)
NM_001267550.2(TTN):c.99859dup (p.Ile33287fs)
NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp) rs74315380
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_001367624.2(ZNF469):c.6297_6298del (p.Gly2100_Asp2101insTer)
NM_001371904.1(APOA5):c.154G>T (p.Glu52Ter)
NM_001371904.1(APOA5):c.466G>T (p.Glu156Ter)
NM_001371904.1(APOA5):c.494dup (p.Val166fs)
NM_001371904.1(APOA5):c.775A>T (p.Arg259Ter)
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
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)
NM_001378454.1(ALMS1):c.451-2A>G
NM_001458.5(FLNC):c.1549+2T>G rs111806457
NM_001458.5(FLNC):c.1677-1G>C
NM_001458.5(FLNC):c.2550+2T>C rs113972676
NM_001458.5(FLNC):c.2811+1G>A
NM_001458.5(FLNC):c.2930-1G>A
NM_001458.5(FLNC):c.4457-1G>T
NM_001458.5(FLNC):c.4952-2A>T rs774945928
NM_001943.5(DSG2):c.2001+1G>T
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys) rs121913010
NM_001943.5(DSG2):c.2617C>T (p.Gln873Ter)
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_001943.5(DSG2):c.523+1G>C 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)
NM_002317.7(LOX):c.210_226dup (p.Val76fs)
NM_002317.7(LOX):c.295_299dup (p.Ala101fs)
NM_002317.7(LOX):c.604G>T (p.Gly202Ter) rs1473260982
NM_002317.7(LOX):c.625del (p.Gln209fs) rs756849358
NM_002317.7(LOX):c.841del (p.Arg281fs)
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.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)
NM_002880.4(RAF1):c.788T>C (p.Val263Ala) rs397516830
NM_002890.3(RASA1):c.2011+1G>C
NM_002890.3(RASA1):c.2925+1dup
NM_003319.4(TTN):c.45637dup (p.Thr15213fs) rs876657669
NM_003319.4(TTN):c.53802_53817del (p.Ala17933_Tyr17934insTer) rs727503559
NM_003319.4(TTN):c.69998_70007del10
NM_003319.4:c.42742_42743insALU
NM_003319.4:c.42743_42744insALU
NM_003319.4:c.58067_58068insALU
NM_003673.4(TCAP):c.110_110+1dup
NM_004006.3(DMD):c.31+36947G>A rs886042106
NM_004006.3(DMD):c.3432+2036A>G rs182575709
NM_004281.4(BAG3):c.108G>A (p.Trp36Ter) rs1846844070
NM_004281.4(BAG3):c.1306G>T (p.Glu436Ter)
NM_004281.4(BAG3):c.77G>A (p.Trp26Ter) rs1554875409
NM_004387.4(NKX2-5):c.167_186dup (p.Ala63fs) rs2113906336
NM_004415.2:c.3564_3565insALU
NM_004415.4(DSP):c.123C>G (p.Tyr41Ter) rs1057523045
NM_004415.4(DSP):c.2437-1G>C rs1057517903
NM_004415.4(DSP):c.250_273+1del
NM_004415.4(DSP):c.6954_6955del (p.Gly2319fs) rs1554108929
NM_004415.4(DSP):c.7123G>C (p.Gly2375Arg) rs376923069
NM_004415.4(DSP):c.7346del (p.Lys2449fs)
NM_004415.4(DSP):c.7418_7425dup (p.Glu2476fs)
NM_004415.4(DSP):c.778-2A>G rs113726158
NM_004415.4(DSP):c.7780dup (p.Ser2594fs)
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_004612.4(TGFBR1):c.722C>T (p.Ser241Leu) rs111854391
NM_005188.4(CBL):c.1109_1111dup (p.Leu370_Tyr371insLeu)
NM_005633.4(SOS1):c.1310T>A (p.Ile437Asn) rs397517150
NM_005902.4(SMAD3):c.1154G>C (p.Arg385Thr) rs886038770
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.67A>C (p.Lys23Gln) rs869312687
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile) rs730881020
NM_014908.4(DOLK):c.1275del (p.Cys426fs) rs1401485925
NM_014908.4(DOLK):c.991C>T (p.Gln331Ter)
NM_015627.3(LDLRAP1):c.748-608G>A
NM_016203.4(PRKAG2):c.905G>C (p.Arg302Pro) rs121908987
NM_016938.5(EFEMP2):c.1171-2_1195del
NM_017636.4(TRPM4):c.1127T>C (p.Ile376Thr) rs2122839457
NM_018699.4(PRDM5):c.1666C>T (p.Gln556Ter)
NM_018699.4(PRDM5):c.243del (p.Trp81fs)
NM_020297.4(ABCC9):c.3346C>T (p.Arg1116Cys) rs387907228
NM_020778.4:c.1178_1179insALU
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
NM_020778.5(ALPK3):c.1438del (p.Arg480fs) rs1963653131
NM_020778.5(ALPK3):c.2464C>T (p.Gln822Ter)
NM_020778.5(ALPK3):c.2920G>T (p.Glu974Ter)
NM_020778.5(ALPK3):c.3231_3232del (p.Asp1077fs) rs2141568790
NM_020778.5(ALPK3):c.3313del (p.Ala1105fs)
NM_020778.5(ALPK3):c.3649_3662dup (p.Ser1222fs)
NM_020778.5(ALPK3):c.3818-1G>C
NM_020778.5(ALPK3):c.3818-1del
NM_020778.5(ALPK3):c.3884G>A (p.Trp1295Ter) rs2141570234
NM_020778.5(ALPK3):c.3947_3954dup (p.Val1319fs)
NM_020778.5(ALPK3):c.4564_4565insT (p.Asp1522fs) rs2141574028
NM_020778.5(ALPK3):c.4582G>T (p.Glu1528Ter)
NM_020778.5(ALPK3):c.4641dup (p.Glu1548Ter)
NM_020778.5(ALPK3):c.571_581dup (p.Glu195fs) rs2141556264
NM_020778.5(ALPK3):c.678_685dup (p.Gly229delinsAspTer)
NM_020778.5(ALPK3):c.680T>A (p.Leu227Ter) rs2141556463
NM_020778.5(ALPK3):c.690_697del (p.Gln231fs)
NM_020778.5(ALPK3):c.801_810delinsACCTGA (p.Asn267fs)
NM_022436.3(ABCG5):c.1325-1G>T rs768019354
NM_022773.4(LMF1):c.1024C>T (p.Arg342Ter)
NM_022773.4(LMF1):c.966del (p.Phe323fs)
NM_024301.5(FKRP):c.1016G>A (p.Arg339His) rs1450841129
NM_024301.5(FKRP):c.1378C>T (p.Gln460Ter)
NM_024301.5(FKRP):c.1415del (p.Lys472fs) rs1555739280
NM_024422.6(DSC2):c.1521-1G>A rs886039128
NM_024422.6(DSC2):c.96del (p.Ala31_Cys32insTer) rs397517408
NM_133378.4(TTN):c.10361-1262dup rs876657673
NM_133378.4(TTN):c.41592_41611del (p.Val13865fs) rs727504825
NM_152594.3(SPRED1):c.1075_1076insAGTA (p.Ile359fs)
NM_152594.3(SPRED1):c.71G>A (p.Arg24Gln) rs1057518150
NM_170707.4(LMNA):c.1004_1005inv (p.Arg335Pro)
NM_170707.4(LMNA):c.1142_1157+1del rs1553265755
NM_170707.4(LMNA):c.1146C>T (p.Gly382=) rs57508089
NM_170707.4(LMNA):c.1381-1G>A
NM_170707.4(LMNA):c.1411C>G (p.Arg471Gly) rs28928902
NM_170707.4(LMNA):c.1489-2A>G rs879254081
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.1744C>T (p.Arg582Cys) rs918645468
NM_170707.4(LMNA):c.497G>C (p.Arg166Pro) rs267607570
NM_170707.4(LMNA):c.513+2T>G rs1553264668
NM_170707.4(LMNA):c.639+1G>T rs869125101
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.937-1G>A rs1553265606
NM_170707.4(LMNA):c.937-2A>G
NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys)
NM_181486.4(TBX5):c.1202G>A (p.Trp401Ter)

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