ClinVar Miner

List of variants reported as pathogenic for cardiomyopathy by Invitae

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4214
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HGVS dbSNP gnomAD frequency
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) rs137852769 0.00182
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167 0.00116
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943 0.00063
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys) rs28933693 0.00046
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) rs146379816 0.00039
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546 0.00033
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235 0.00019
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 0.00019
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys) rs104894423 0.00016
NM_001458.5(FLNC):c.970-4A>G rs532143625 0.00015
NM_004453.4(ETFDH):c.1531G>A (p.Asp511Asn) rs780768015 0.00015
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln) rs398123084 0.00014
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg) rs200788251 0.00014
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys) rs138945081 0.00014
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) rs137852623 0.00013
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala) rs904631654 0.00011
NM_182961.4(SYNE1):c.17905C>T (p.Gln5969Ter) rs967105970 0.00011
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr) rs138834083 0.00009
NM_000018.4(ACADVL):c.520G>A (p.Val174Met) rs369560930 0.00009
NM_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224 0.00009
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 0.00009
NM_000126.4(ETFA):c.797C>T (p.Thr266Met) rs119458970 0.00008
NM_000152.5(GAA):c.1194+3G>C rs368539333 0.00008
NM_000152.5(GAA):c.1552-3C>G rs375470378 0.00008
NM_000152.5(GAA):c.533G>A (p.Arg178His) rs762267535 0.00008
NM_000152.5(GAA):c.853C>T (p.Pro285Ser) rs886042086 0.00008
NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln) rs587782962 0.00008
NM_000152.5(GAA):c.1048G>A (p.Val350Met) rs200412003 0.00007
NM_000232.5(SGCB):c.31C>T (p.Gln11Ter) rs752492870 0.00007
NM_004453.4(ETFDH):c.51dup (p.Ala18fs) rs796051964 0.00007
NM_000018.4(ACADVL):c.1434G>A (p.Met478Ile) rs775537775 0.00006
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln) rs147366714 0.00006
NM_000152.5(GAA):c.1124G>A (p.Arg375His) rs142752477 0.00006
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324 0.00006
NM_000152.5(GAA):c.655G>A (p.Gly219Arg) rs370950728 0.00006
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) rs577915581 0.00006
NM_000152.5(GAA):c.953T>C (p.Met318Thr) rs121907936 0.00006
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374 0.00006
NM_001267550.2(TTN):c.39974-11T>G rs758597536 0.00006
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846 0.00006
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro) rs104894205 0.00006
NM_004453.4(ETFDH):c.1367C>T (p.Pro456Leu) rs398124152 0.00006
NM_006073.4(TRDN):c.613C>T (p.Gln205Ter) rs397515458 0.00006
NM_000018.4(ACADVL):c.760G>A (p.Gly254Ser) rs765423779 0.00005
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met) rs113994168 0.00005
NM_000023.4(SGCA):c.614C>A (p.Pro205His) rs757481230 0.00005
NM_000182.5(HADHA):c.180+3A>G rs781222705 0.00005
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln) rs727503195 0.00005
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156 0.00005
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) rs121434420 0.00005
NM_001267550.2(TTN):c.86821+2T>A rs397517735 0.00005
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys) rs371493232 0.00005
NM_014908.4(DOLK):c.1558A>G (p.Thr520Ala) rs374860681 0.00005
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp) rs745832866 0.00004
NM_000018.4(ACADVL):c.1531C>T (p.Arg511Trp) rs771025937 0.00004
NM_000018.4(ACADVL):c.1820G>C (p.Cys607Ser) rs200117742 0.00004
NM_000126.4(ETFA):c.52C>T (p.Arg18Ter) rs754202690 0.00004
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter) rs769976586 0.00004
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) rs770610356 0.00004
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) rs148842275 0.00004
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) rs140826989 0.00004
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro) rs779556619 0.00004
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer) rs781088002 0.00004
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu) rs28940868 0.00004
NM_000152.5(GAA):c.784G>A (p.Glu262Lys) rs201896815 0.00004
NM_000231.3(SGCG):c.195+1G>C rs200502077 0.00004
NM_000232.5(SGCB):c.1_2del (p.Met1fs) rs886042503 0.00004
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000256.3(MYBPC3):c.3330+2T>G rs387906397 0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_000257.4(MYH7):c.4348G>A (p.Asp1450Asn) rs397516211 0.00004
NM_000363.5(TNNI3):c.292C>T (p.Arg98Ter) rs730881068 0.00004
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln) rs397516347 0.00004
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) rs368861241 0.00004
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_000371.4(TTR):c.262A>T (p.Ile88Leu) rs121918085 0.00004
NM_000432.4(MYL2):c.403-1G>C rs199474813 0.00004
NM_001005242.3(PKP2):c.2357+1G>A rs111517471 0.00004
NM_001267550.2(TTN):c.13696C>T (p.Gln4566Ter) rs775072385 0.00004
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186 0.00004
NM_002633.3(PGM1):c.787G>T (p.Asp263Tyr) rs587777404 0.00004
NM_002633.3(PGM1):c.988G>C (p.Gly330Arg) rs777164338 0.00004
NM_004453.4(ETFDH):c.1234G>T (p.Glu412Ter) rs398124151 0.00004
NM_004453.4(ETFDH):c.1351G>C (p.Val451Leu) rs558005496 0.00004
NM_004453.4(ETFDH):c.1414G>A (p.Gly472Arg) rs746598421 0.00004
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr) rs121964954 0.00004
NM_004453.4(ETFDH):c.770A>G (p.Tyr257Cys) rs780015493 0.00004
NM_144573.4(NEXN):c.1174C>T (p.Arg392Ter) rs750076188 0.00004
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163 0.00003
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His) rs112406105 0.00003
NM_000018.4(ACADVL):c.1182+1G>A rs113690956 0.00003
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met) rs113994169 0.00003
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154 0.00003
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp) rs118204014 0.00003
NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln) rs534647044 0.00003
NM_000023.4(SGCA):c.293G>A (p.Arg98His) rs137852621 0.00003
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr) rs768814872 0.00003
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro) rs143962150 0.00003
NM_000152.5(GAA):c.1316T>A (p.Met439Lys) rs747610090 0.00003
NM_000152.5(GAA):c.1326+1G>A rs1205507761 0.00003
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp) rs776948121 0.00003
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172 0.00003
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp) rs121907938 0.00003
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys) rs144016984 0.00003
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp) rs61736895 0.00003
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) rs780321415 0.00003
NM_000152.5(GAA):c.307T>G (p.Cys103Gly) rs398123174 0.00003
NM_000152.5(GAA):c.546G>A (p.Thr182=) rs143523371 0.00003
NM_000152.5(GAA):c.877G>A (p.Gly293Arg) rs121907945 0.00003
NM_000152.5(GAA):c.925G>A (p.Gly309Arg) rs543300039 0.00003
NM_000182.5(HADHA):c.1793_1794del (p.His598fs) rs769580842 0.00003
NM_000256.3(MYBPC3):c.1224-52G>A rs786204336 0.00003
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln) rs397515907 0.00003
NM_000256.3(MYBPC3):c.1624+4A>T rs397515916 0.00003
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His) rs371564200 0.00003
NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter) rs397516005 0.00003
NM_000256.3(MYBPC3):c.927-2A>G rs397516082 0.00003
NM_000257.4(MYH7):c.1325G>A (p.Arg442His) rs730880870 0.00003
NM_000257.4(MYH7):c.1625A>G (p.Lys542Arg) rs863224645 0.00003
NM_000257.4(MYH7):c.2081G>A (p.Arg694His) rs886039030 0.00003
NM_000257.4(MYH7):c.2221G>A (p.Gly741Arg) rs121913632 0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_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.427C>T (p.Arg143Trp) rs727503278 0.00003
NM_000257.4(MYH7):c.611G>A (p.Arg204His) rs397516260 0.00003
NM_001005242.3(PKP2):c.1557-1G>C rs78897684 0.00003
NM_001005242.3(PKP2):c.1819C>T (p.Arg607Ter) rs751288871 0.00003
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn) rs104894503 0.00003
NM_001232.4(CASQ2):c.923C>T (p.Pro308Leu) rs139228801 0.00003
NM_001267550.2(TTN):c.15922C>T (p.Arg5308Ter) rs886042995 0.00003
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter) rs727504198 0.00003
NM_001267550.2(TTN):c.49648+2del rs727504851 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_001289808.2(CRYAB):c.3G>A (p.Met1Ile) rs397516686 0.00003
NM_001458.5(FLNC):c.4871C>T (p.Ser1624Leu) rs879255639 0.00003
NM_001927.4(DES):c.226del (p.Thr76fs) rs1399282762 0.00003
NM_001943.5(DSG2):c.3039C>A (p.Tyr1013Ter) rs539821357 0.00003
NM_004415.4(DSP):c.4855del (p.Leu1619fs) rs1231490307 0.00003
NM_004415.4(DSP):c.6310del (p.Thr2104fs) rs730880092 0.00003
NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro) rs377686388 0.00003
NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser) rs751821289 0.00003
NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu) rs377656387 0.00003
NM_004453.4(ETFDH):c.1773_1774del (p.Thr591_Cys592insTer) rs767795266 0.00003
NM_004453.4(ETFDH):c.405+3A>T rs796051965 0.00003
NM_006073.4(TRDN):c.22+29A>G rs774068079 0.00003
NM_024422.6(DSC2):c.663T>A (p.Tyr221Ter) rs145476705 0.00003
NM_000018.4(ACADVL):c.1024T>C (p.Phe342Leu) rs1356652354 0.00002
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp) rs2309689 0.00002
NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln) rs138058572 0.00002
NM_000018.4(ACADVL):c.1366C>T (p.Arg456Cys) rs794727111 0.00002
NM_000018.4(ACADVL):c.1679-6G>A rs113994171 0.00002
NM_000018.4(ACADVL):c.790A>G (p.Lys264Glu) rs1231343685 0.00002
NM_000018.4(ACADVL):c.881_884dup (p.Pro296fs) rs766192888 0.00002
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys) rs758647756 0.00002
NM_000023.4(SGCA):c.197T>A (p.Leu66His) rs767928766 0.00002
NM_000126.4(ETFA):c.625C>T (p.Arg209Ter) rs199763682 0.00002
NM_000152.5(GAA):c.1076-22T>G rs762260678 0.00002
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg) rs772883420 0.00002
NM_000152.5(GAA):c.1634C>T (p.Pro545Leu) rs121907942 0.00002
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys) rs765362308 0.00002
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys) rs991082382 0.00002
NM_000152.5(GAA):c.1798C>T (p.Arg600Cys) rs764670084 0.00002
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp) rs757617999 0.00002
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg) rs28937909 0.00002
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln) rs778418246 0.00002
NM_000152.5(GAA):c.2407C>T (p.Gln803Ter) rs1344266804 0.00002
NM_000152.5(GAA):c.868A>G (p.Asn290Asp) rs552929702 0.00002
NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter) rs137852771 0.00002
NM_000182.5(HADHA):c.676+2T>C rs772683361 0.00002
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys) rs555514820 0.00002
NM_000232.5(SGCB):c.551A>G (p.Tyr184Cys) rs1365923535 0.00002
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723 0.00002
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs) rs397515963 0.00002
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361 0.00002
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln) rs2856655 0.00002
NM_000256.3(MYBPC3):c.26-2A>G rs376395543 0.00002
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter) rs387907267 0.00002
NM_000256.3(MYBPC3):c.3064C>T (p.Arg1022Cys) rs397515999 0.00002
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958 0.00002
NM_000256.3(MYBPC3):c.927-9G>A rs397516083 0.00002
NM_000257.4(MYH7):c.1727A>G (p.His576Arg) rs727504238 0.00002
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630 0.00002
NM_000257.4(MYH7):c.4076G>A (p.Arg1359His) rs750836033 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000257.4(MYH7):c.5342G>A (p.Arg1781His) rs397516246 0.00002
NM_000257.4(MYH7):c.925G>A (p.Asp309Asn) rs730880923 0.00002
NM_000257.4(MYH7):c.958G>A (p.Val320Met) rs376897125 0.00002
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) rs397516349 0.00002
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter) rs193922672 0.00002
NM_001005242.3(PKP2):c.663C>A (p.Tyr221Ter) rs767987619 0.00002
NM_001134363.3(RBM20):c.2062C>T (p.Arg688Ter) rs794729150 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.107377+1G>A rs112188483 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_001276345.2(TNNT2):c.341C>T (p.Ala114Val) rs727504245 0.00002
NM_001276345.2(TNNT2):c.544G>T (p.Ala182Ser) rs730881097 0.00002
NM_001289808.2(CRYAB):c.34C>T (p.Arg12Cys) rs375933774 0.00002
NM_001458.5(FLNC):c.4636G>A (p.Gly1546Ser) rs774263134 0.00002
NM_001927.4(DES):c.1048C>T (p.Arg350Trp) rs62636492 0.00002
NM_002667.5(PLN):c.116T>G (p.Leu39Ter) rs111033560 0.00002
NM_004453.4(ETFDH):c.1832G>A (p.Gly611Glu) rs761669036 0.00002
NM_004453.4(ETFDH):c.545G>A (p.Trp182Ter) rs767249944 0.00002
NM_182961.4(SYNE1):c.14644C>T (p.Arg4882Ter) rs375077588 0.00002
NM_182961.4(SYNE1):c.21463C>T (p.Arg7155Ter) rs778445117 0.00002
NM_182961.4(SYNE1):c.91C>T (p.Arg31Ter) rs199708211 0.00002
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg) rs398123079 0.00001
NM_000018.4(ACADVL):c.1064T>C (p.Ile355Thr) rs1351976589 0.00001
NM_000018.4(ACADVL):c.1077+1G>T rs140989450 0.00001
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser) rs758928307 0.00001
NM_000018.4(ACADVL):c.1146G>C (p.Lys382Asn) rs1057523504 0.00001
NM_000018.4(ACADVL):c.1268C>A (p.Ser423Ter) rs1451455641 0.00001
NM_000018.4(ACADVL):c.1316G>A (p.Gly439Asp) rs533055438 0.00001
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His) rs118204016 0.00001
NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter) rs794727113 0.00001
NM_000018.4(ACADVL):c.1368dup (p.Ile457fs) rs1175359422 0.00001
NM_000018.4(ACADVL):c.1372T>C (p.Phe458Leu) rs118204017 0.00001
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp) rs113994170 0.00001
NM_000018.4(ACADVL):c.1406G>A (p.Arg469Gln) rs398123083 0.00001
NM_000018.4(ACADVL):c.1468G>C (p.Ala490Pro) rs759775666 0.00001
NM_000018.4(ACADVL):c.1532G>A (p.Arg511Gln) rs200771970 0.00001
NM_000018.4(ACADVL):c.1540G>A (p.Gly514Arg) rs370282954 0.00001
NM_000018.4(ACADVL):c.1748C>T (p.Ser583Leu) rs1085307648 0.00001
NM_000018.4(ACADVL):c.1807dup (p.Cys603fs) rs1555529088 0.00001
NM_000018.4(ACADVL):c.1820G>A (p.Cys607Tyr) rs200117742 0.00001
NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu) rs750043368 0.00001
NM_000018.4(ACADVL):c.253dup (p.Asp85fs) rs1247360325 0.00001
NM_000018.4(ACADVL):c.343-1G>A rs1555527877 0.00001
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp) rs1057520088 0.00001
NM_000018.4(ACADVL):c.406C>T (p.Leu136Phe) rs1460246415 0.00001
NM_000018.4(ACADVL):c.497_498del (p.Ile166fs) rs1057516369 0.00001
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr) rs727503791 0.00001
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser) rs545215807 0.00001
NM_000018.4(ACADVL):c.603C>G (p.Tyr201Ter) rs371407903 0.00001
NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro) rs398123090 0.00001
NM_000018.4(ACADVL):c.652_682dup (p.Ile228fs) rs746860401 0.00001
NM_000018.4(ACADVL):c.655C>A (p.Pro219Thr) rs772898391 0.00001
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg) rs398123091 0.00001
NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter) rs786204536 0.00001
NM_000018.4(ACADVL):c.694G>A (p.Ala232Thr) rs746944448 0.00001
NM_000018.4(ACADVL):c.751A>G (p.Ser251Gly) rs749159573 0.00001
NM_000018.4(ACADVL):c.753-2A>C rs398123092 0.00001
NM_000018.4(ACADVL):c.770del (p.Asp257fs) rs2071264706 0.00001
NM_000018.4(ACADVL):c.853G>C (p.Glu285Gln) rs202216257 0.00001
NM_000018.4(ACADVL):c.878+1G>C rs757946752 0.00001
NM_000018.4(ACADVL):c.887_888del (p.Pro296fs) rs753108198 0.00001
NM_000018.4(ACADVL):c.896A>T (p.Lys299Met) rs771247610 0.00001
NM_000023.4(SGCA):c.101G>A (p.Arg34His) rs371675217 0.00001
NM_000023.4(SGCA):c.157+1G>A rs113109898 0.00001
NM_000023.4(SGCA):c.157G>A (p.Ala53Thr) rs60407644 0.00001
NM_000023.4(SGCA):c.220C>T (p.Arg74Trp) rs757888349 0.00001
NM_000023.4(SGCA):c.313-2A>G rs1057516650 0.00001
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys) rs372210292 0.00001
NM_000023.4(SGCA):c.489del (p.Leu164fs) rs753650776 0.00001
NM_000023.4(SGCA):c.574C>T (p.Arg192Ter) rs387907298 0.00001
NM_000126.4(ETFA):c.625del (p.Arg209fs) rs1209473816 0.00001
NM_000152.5(GAA):c.1064T>C (p.Leu355Pro) rs766074609 0.00001
NM_000152.5(GAA):c.1076-1G>C rs1555600050 0.00001
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu) rs755253527 0.00001
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys) rs372486238 0.00001
NM_000152.5(GAA):c.118C>T (p.Arg40Ter) rs767409395 0.00001
NM_000152.5(GAA):c.1210G>A (p.Asp404Asn) rs141533320 0.00001
NM_000152.5(GAA):c.1211A>G (p.Asp404Gly) rs886042961 0.00001
NM_000152.5(GAA):c.1222A>G (p.Met408Val) rs560575383 0.00001
NM_000152.5(GAA):c.1292_1295dup (p.Gln433fs) rs996798292 0.00001
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs) rs770276275 0.00001
NM_000152.5(GAA):c.1441del (p.Trp481fs) rs1403500889 0.00001
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg) rs770590394 0.00001
NM_000152.5(GAA):c.1537G>A (p.Asp513Asn) rs748047271 0.00001
NM_000152.5(GAA):c.1551+1G>T rs770780848 0.00001
NM_000152.5(GAA):c.1556T>C (p.Met519Thr) rs786204720 0.00001
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys) rs121907937 0.00001
NM_000152.5(GAA):c.1610del (p.Glu537fs) rs762060817 0.00001
NM_000152.5(GAA):c.1626C>G (p.Pro542=) rs947585663 0.00001
NM_000152.5(GAA):c.172C>T (p.Gln58Ter) rs201185475 0.00001
NM_000152.5(GAA):c.1754+1G>A rs886043399 0.00001
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr) rs753505203 0.00001
NM_000152.5(GAA):c.1799G>A (p.Arg600His) rs377544304 0.00001
NM_000152.5(GAA):c.1802C>T (p.Ser601Leu) rs374470794 0.00001
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp) rs1393386120 0.00001
NM_000152.5(GAA):c.1822C>T (p.Arg608Ter) rs749529161 0.00001
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter) rs786204727 0.00001
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg) rs549029029 0.00001
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn) rs753269119 0.00001
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser) rs536906561 0.00001
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn) rs763456921 0.00001
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp) rs757111744 0.00001
NM_000152.5(GAA):c.2040+1G>T rs1057516928 0.00001
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys) rs786204645 0.00001
NM_000152.5(GAA):c.2331+2T>A rs1057517148 0.00001
NM_000152.5(GAA):c.2512C>T (p.Gln838Ter) rs369532274 0.00001
NM_000152.5(GAA):c.2647-7G>A rs192679574 0.00001
NM_000152.5(GAA):c.2662G>T (p.Glu888Ter) rs765718882 0.00001
NM_000152.5(GAA):c.2706del (p.Lys903fs) rs1428358278 0.00001
NM_000152.5(GAA):c.2783A>G (p.Tyr928Cys) rs1403885484 0.00001
NM_000152.5(GAA):c.281_282del (p.Pro94fs) rs1057516503 0.00001
NM_000152.5(GAA):c.365del (p.Met122fs) rs786204661 0.00001
NM_000152.5(GAA):c.568C>T (p.Arg190Cys) rs771258854 0.00001
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) rs757700700 0.00001
NM_000152.5(GAA):c.671G>A (p.Arg224Gln) rs200210219 0.00001
NM_000152.5(GAA):c.692+5G>T rs763027848 0.00001
NM_000152.5(GAA):c.701C>T (p.Thr234Met) rs752054011 0.00001
NM_000152.5(GAA):c.871C>T (p.Leu291Phe) rs773417785 0.00001
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys) rs1057516600 0.00001
NM_000182.5(HADHA):c.1132C>T (p.Gln378Ter) rs137852770 0.00001
NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter) rs1243779049 0.00001
NM_000182.5(HADHA):c.1237A>T (p.Lys413Ter) rs1057516461 0.00001
NM_000182.5(HADHA):c.1916_1919dup (p.Glu641fs) rs796051971 0.00001
NM_000182.5(HADHA):c.2026C>T (p.Arg676Cys) rs771028541 0.00001
NM_000182.5(HADHA):c.2107G>A (p.Gly703Arg) rs200438844 0.00001
NM_000182.5(HADHA):c.2200A>T (p.Lys734Ter) rs1322871046 0.00001
NM_000182.5(HADHA):c.315-1G>A rs1458898996 0.00001
NM_000231.3(SGCG):c.342dup (p.Ala115fs) rs1262459682 0.00001
NM_000231.3(SGCG):c.559del (p.Asp187fs) rs1484553312 0.00001
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser) rs547818652 0.00001
NM_000231.3(SGCG):c.752del (p.Thr251fs) rs886042749 0.00001
NM_000231.3(SGCG):c.87dup (p.Gly30fs) rs762777463 0.00001
NM_000232.5(SGCB):c.1A>G (p.Met1Val) rs398123262 0.00001
NM_000232.5(SGCB):c.265G>A (p.Val89Met) rs762652676 0.00001
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg) rs28936383 0.00001
NM_000232.5(SGCB):c.499G>A (p.Gly167Ser) rs779516489 0.00001
NM_000232.5(SGCB):c.544A>C (p.Thr182Pro) rs751427686 0.00001
NM_000232.5(SGCB):c.601C>T (p.Gln201Ter) rs773554421 0.00001
NM_000232.5(SGCB):c.621+1G>T rs1264362642 0.00001
NM_000232.5(SGCB):c.622-2A>G rs780596734 0.00001
NM_000256.3(MYBPC3):c.1188G>A (p.Trp396Ter) rs397515890 0.00001
NM_000256.3(MYBPC3):c.1223+1G>A rs730880639 0.00001
NM_000256.3(MYBPC3):c.1227-13G>A rs397515893 0.00001
NM_000256.3(MYBPC3):c.2012_2013insGG (p.Pro672fs) rs2095886347 0.00001
NM_000256.3(MYBPC3):c.2258dup (p.Lys754fs) rs774521272 0.00001
NM_000256.3(MYBPC3):c.2273G>A (p.Gly758Asp) rs1163861044 0.00001
NM_000256.3(MYBPC3):c.2450G>A (p.Arg817Gln) rs397515964 0.00001
NM_000256.3(MYBPC3):c.2490dup (p.His831fs) rs397515966 0.00001
NM_000256.3(MYBPC3):c.2737+5G>A rs398123280 0.00001
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) rs397515990 0.00001
NM_000256.3(MYBPC3):c.2865del (p.Val956fs) rs2095880935 0.00001
NM_000256.3(MYBPC3):c.3190+1G>A rs111683277 0.00001
NM_000256.3(MYBPC3):c.3190+2T>G rs113358486 0.00001
NM_000256.3(MYBPC3):c.3226_3227insT (p.Asp1076fs) rs397516008 0.00001
NM_000256.3(MYBPC3):c.3253G>T (p.Glu1085Ter) rs397516010 0.00001
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter) rs121909377 0.00001
NM_000256.3(MYBPC3):c.3408C>A (p.Tyr1136Ter) rs193922383 0.00001
NM_000256.3(MYBPC3):c.3490+1G>T rs397516020 0.00001
NM_000256.3(MYBPC3):c.3491-2A>T rs397516022 0.00001
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter) rs368765949 0.00001
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037 0.00001
NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs) rs727503166 0.00001
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter) rs397516042 0.00001
NM_000256.3(MYBPC3):c.436dup (p.Thr146fs) rs397516049 0.00001
NM_000256.3(MYBPC3):c.747C>A (p.Cys249Ter) rs771929829 0.00001
NM_000256.3(MYBPC3):c.821+1G>A rs397516073 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.1357C>T (p.Arg453Cys) rs121913625 0.00001
NM_000257.4(MYH7):c.1358G>A (p.Arg453His) rs397516101 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.1491G>T (p.Glu497Asp) rs267606911 0.00001
NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser) rs121913626 0.00001
NM_000257.4(MYH7):c.1816G>A (p.Val606Met) rs121913627 0.00001
NM_000257.4(MYH7):c.1954A>G (p.Arg652Gly) rs727504239 0.00001
NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys) rs727504240 0.00001
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp) rs121913637 0.00001
NM_000257.4(MYH7):c.2333A>T (p.Asp778Val) rs121913634 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.2594A>G (p.Lys865Arg) rs758891557 0.00001
NM_000257.4(MYH7):c.2609G>A (p.Arg870His) rs36211715 0.00001
NM_000257.4(MYH7):c.2644C>G (p.Gln882Glu) rs397516160 0.00001
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161 0.00001
NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly) rs267606908 0.00001
NM_000257.4(MYH7):c.2722C>G (p.Leu908Val) rs121913631 0.00001
NM_000257.4(MYH7):c.3169G>A (p.Gly1057Ser) rs397516179 0.00001
NM_000257.4(MYH7):c.3578G>A (p.Arg1193His) rs397516187 0.00001
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) rs727503246 0.00001
NM_000257.4(MYH7):c.4075C>T (p.Arg1359Cys) rs45451303 0.00001
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201 0.00001
NM_000257.4(MYH7):c.4135G>A (p.Ala1379Thr) rs397516202 0.00001
NM_000257.4(MYH7):c.4186C>T (p.Arg1396Trp) rs730880793 0.00001
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp) rs145213771 0.00001
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209 0.00001
NM_000257.4(MYH7):c.4487A>C (p.Glu1496Ala) rs397516218 0.00001
NM_000257.4(MYH7):c.5029C>T (p.Arg1677Cys) rs377461670 0.00001
NM_000257.4(MYH7):c.5279C>T (p.Thr1760Met) rs727505294 0.00001
NM_000257.4(MYH7):c.5588G>A (p.Arg1863Gln) rs45520836 0.00001
NM_000257.4(MYH7):c.5655G>A (p.Ala1885=) rs753392652 0.00001
NM_000257.4(MYH7):c.5762G>A (p.Arg1921Gln) rs397516256 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_000257.4(MYH7):c.767G>A (p.Gly256Glu) rs121913633 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_000337.6(SGCD):c.10C>T (p.Gln4Ter) rs1768838504 0.00001
NM_000337.6(SGCD):c.493C>T (p.Arg165Ter) rs121909295 0.00001
NM_000363.5(TNNI3):c.146dup (p.Lys50fs) rs1162696593 0.00001
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp) rs104894724 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.557G>A (p.Arg186Gln) rs397516357 0.00001
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) rs104894727 0.00001
NM_000371.4(TTR):c.118G>A (p.Val40Ile) rs121918093 0.00001
NM_000371.4(TTR):c.130C>T (p.Pro44Ser) rs11541790 0.00001
NM_000371.4(TTR):c.238A>G (p.Thr80Ala) rs121918070 0.00001
NM_000371.4(TTR):c.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_000371.4(TTR):c.349G>T (p.Ala117Ser) rs267607161 0.00001
NM_000371.4(TTR):c.88T>C (p.Cys30Arg) rs121918083 0.00001
NM_000432.4(MYL2):c.173G>A (p.Arg58Gln) rs104894369 0.00001
NM_000432.4(MYL2):c.278C>A (p.Ala93Glu) rs774193307 0.00001
NM_001005242.3(PKP2):c.1063C>T (p.Arg355Ter) rs754912778 0.00001
NM_001005242.3(PKP2):c.1132C>T (p.Gln378Ter) rs397516986 0.00001
NM_001005242.3(PKP2):c.1162C>T (p.Arg388Trp) rs766209297 0.00001
NM_001005242.3(PKP2):c.1171-2A>G rs794729133 0.00001
NM_001005242.3(PKP2):c.1379-1998C>T rs151212477 0.00001
NM_001005242.3(PKP2):c.1671del (p.Asp557fs) rs794729129 0.00001
NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter) rs397517012 0.00001
NM_001005242.3(PKP2):c.1834A>T (p.Lys612Ter) rs1158333072 0.00001
NM_001005242.3(PKP2):c.1846C>T (p.Gln616Ter) rs762753884 0.00001
NM_001005242.3(PKP2):c.390C>G (p.Tyr130Ter) rs763303290 0.00001
NM_001005242.3(PKP2):c.533dup (p.His179fs) rs769220833 0.00001
NM_001005242.3(PKP2):c.837_838del (p.Val280fs) rs772220644 0.00001
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) rs199476316 0.00001
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr) rs199476321 0.00001
NM_001035.3(RYR2):c.12334G>A (p.Asp4112Asn) rs1695348814 0.00001
NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys) rs764698152 0.00001
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp) rs190140598 0.00001
NM_001035.3(RYR2):c.9352G>A (p.Gly3118Arg) rs730880194 0.00001
NM_001122630.2(CDKN1C):c.546del (p.Pro183fs) rs1848940003 0.00001
NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln) rs267607001 0.00001
NM_001134363.3(RBM20):c.1906C>T (p.Arg636Cys) rs267607002 0.00001
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) rs267607004 0.00001
NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser) rs869025431 0.00001
NM_001232.4(CASQ2):c.576C>A (p.Tyr192Ter) rs758748280 0.00001
NM_001232.4(CASQ2):c.783G>A (p.Trp261Ter) rs776874142 0.00001
NM_001232.4(CASQ2):c.98G>A (p.Arg33Gln) rs749547712 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.105805del (p.Thr35269fs) rs752787097 0.00001
NM_001267550.2(TTN):c.105935T>G (p.Leu35312Ter) rs779948923 0.00001
NM_001267550.2(TTN):c.106954C>T (p.Arg35652Ter) rs565675340 0.00001
NM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter) rs1009131948 0.00001
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) rs757082154 0.00001
NM_001267550.2(TTN):c.14093-1G>A rs869312099 0.00001
NM_001267550.2(TTN):c.16054G>A (p.Asp5352Asn) rs1190242728 0.00001
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter) rs878854299 0.00001
NM_001267550.2(TTN):c.35828dup (p.Glu11945Argfs) rs765879488 0.00001
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001 0.00001
NM_001267550.2(TTN):c.44816-1G>A rs749705939 0.00001
NM_001267550.2(TTN):c.44899C>T (p.Arg14967Ter) rs727505350 0.00001
NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter) rs397517580 0.00001
NM_001267550.2(TTN):c.47494C>T (p.Arg15832Ter) rs751746401 0.00001
NM_001267550.2(TTN):c.48283C>T (p.Arg16095Ter) rs374140736 0.00001
NM_001267550.2(TTN):c.50170C>T (p.Arg16724Ter) rs794729265 0.00001
NM_001267550.2(TTN):c.51436+1G>A rs761807131 0.00001
NM_001267550.2(TTN):c.52009C>T (p.Arg17337Ter) rs1343120755 0.00001
NM_001267550.2(TTN):c.56806C>T (p.Arg18936Ter) rs72646828 0.00001
NM_001267550.2(TTN):c.57769C>T (p.Arg19257Ter) rs794729275 0.00001
NM_001267550.2(TTN):c.60733C>T (p.Arg20245Ter) rs1057522256 0.00001
NM_001267550.2(TTN):c.61921C>T (p.Arg20641Ter) rs878854324 0.00001
NM_001267550.2(TTN):c.67349-2A>C rs753948675 0.00001
NM_001267550.2(TTN):c.72669del (p.Asp24224fs) rs727504531 0.00001
NM_001267550.2(TTN):c.76654C>T (p.Arg25552Ter) rs545954490 0.00001
NM_001267550.2(TTN):c.78178G>T (p.Glu26060Ter) rs794729289 0.00001
NM_001267550.2(TTN):c.80716C>T (p.Arg26906Ter) rs727505284 0.00001
NM_001267550.2(TTN):c.83416C>T (p.Arg27806Ter) rs886055237 0.00001
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter) rs770038577 0.00001
NM_001267550.2(TTN):c.87040C>T (p.Arg29014Ter) rs776065839 0.00001
NM_001267550.2(TTN):c.92317C>T (p.Arg30773Ter) rs794729301 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.97050dup (p.Glu32351fs) rs794729365 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.304C>T (p.Arg102Trp) rs397516456 0.00001
NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln) rs121964856 0.00001
NM_001276345.2(TNNT2):c.360T>G (p.Phe120Leu) rs727504331 0.00001
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) rs397516463 0.00001
NM_001276345.2(TNNT2):c.452G>A (p.Arg151Gln) rs730881101 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_001289808.2(CRYAB):c.2T>C (p.Met1Thr) rs577253222 0.00001
NM_001289808.2(CRYAB):c.343del (p.Ser115fs) rs281865142 0.00001
NM_001458.5(FLNC):c.3791-1G>C rs781135153 0.00001
NM_001458.5(FLNC):c.6889G>A (p.Val2297Met) rs1420394583 0.00001
NM_001927.4(DES):c.1237G>T (p.Glu413Ter) rs61726467 0.00001
NM_001927.4(DES):c.1285C>T (p.Arg429Ter) rs150974575 0.00001
NM_001927.4(DES):c.254_255insT (p.Gly86fs) rs1273708097 0.00001
NM_001927.4(DES):c.322G>T (p.Glu108Ter) rs62636490 0.00001
NM_001927.4(DES):c.369del (p.Ile123fs) rs747289875 0.00001
NM_001927.4(DES):c.600del (p.Lys201fs) rs727504448 0.00001
NM_001927.4(DES):c.634C>T (p.Arg212Ter) rs781590560 0.00001
NM_001927.4(DES):c.885G>A (p.Trp295Ter) rs146755676 0.00001
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) rs121913008 0.00001
NM_001943.5(DSG2):c.1750C>T (p.Gln584Ter) rs794728086 0.00001
NM_001943.5(DSG2):c.2375_2379dup (p.Asp794fs) rs773328409 0.00001
NM_001943.5(DSG2):c.355C>T (p.Arg119Ter) rs753052874 0.00001
NM_001943.5(DSG2):c.3G>A (p.Met1Ile) rs1021457619 0.00001
NM_001943.5(DSG2):c.523+2T>C rs397516709 0.00001
NM_001943.5(DSG2):c.690+1G>A rs750176752 0.00001
NM_001985.3(ETFB):c.490C>T (p.Arg164Trp) rs148045813 0.00001
NM_002230.4(JUP):c.343C>T (p.Arg115Ter) rs782203227 0.00001
NM_002633.3(PGM1):c.1495C>T (p.Arg499Ter) rs745993071 0.00001
NM_002633.3(PGM1):c.1507C>T (p.Arg503Ter) rs397515423 0.00001
NM_002633.3(PGM1):c.1544G>A (p.Arg515Gln) rs1453920894 0.00001
NM_002633.3(PGM1):c.649C>T (p.Arg217Ter) rs770066171 0.00001
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) rs267607125 0.00001
NM_003476.5(CSRP3):c.337A>T (p.Lys113Ter) rs863224716 0.00001
NM_003476.5(CSRP3):c.364C>T (p.Arg122Ter) rs902082118 0.00001
NM_003476.5(CSRP3):c.369T>A (p.Cys123Ter) rs1216811263 0.00001
NM_003476.5(CSRP3):c.449G>A (p.Cys150Tyr) rs761507504 0.00001
NM_003673.4(TCAP):c.157C>T (p.Gln53Ter) rs104894655 0.00001
NM_003673.4(TCAP):c.66G>A (p.Trp22Ter) rs141019458 0.00001
NM_003673.4(TCAP):c.75G>A (p.Trp25Ter) rs778851652 0.00001
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter) rs387906875 0.00001
NM_004415.4(DSP):c.1582C>T (p.Gln528Ter) rs1267435790 0.00001
NM_004415.4(DSP):c.268C>T (p.Gln90Ter) rs886039343 0.00001
NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter) rs767643821 0.00001
NM_004415.4(DSP):c.3865C>T (p.Gln1289Ter) rs778178956 0.00001
NM_004415.4(DSP):c.4305_4309del (p.Thr1436fs) rs1554108287 0.00001
NM_004415.4(DSP):c.4518del (p.Arg1506fs) rs1289037294 0.00001
NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter) rs397516940 0.00001
NM_004415.4(DSP):c.7000C>T (p.Arg2334Ter) rs369482721 0.00001
NM_004415.4(DSP):c.7066A>T (p.Lys2356Ter) rs1561703331 0.00001
NM_004415.4(DSP):c.7641C>G (p.Tyr2547Ter) rs1464253797 0.00001
NM_004415.4(DSP):c.939+1G>A rs727504443 0.00001
NM_004453.4(ETFDH):c.1211T>C (p.Met404Thr) rs779253471 0.00001
NM_004453.4(ETFDH):c.121C>T (p.Arg41Ter) rs773668457 0.00001
NM_004453.4(ETFDH):c.1285+1G>A rs767046886 0.00001
NM_004453.4(ETFDH):c.1333T>C (p.Trp445Arg) rs1156517377 0.00001
NM_004453.4(ETFDH):c.1399G>C (p.Gly467Arg) rs1174882036 0.00001
NM_004453.4(ETFDH):c.151C>T (p.Arg51Trp) rs187248590 0.00001
NM_004453.4(ETFDH):c.1601C>T (p.Pro534Leu) rs200920510 0.00001
NM_004453.4(ETFDH):c.1690+1G>T rs917285990 0.00001
NM_004453.4(ETFDH):c.34G>C (p.Ala12Pro) rs1172887273 0.00001
NM_004453.4(ETFDH):c.389A>T (p.Asp130Val) rs199899494 0.00001
NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg) rs779896449 0.00001
NM_004453.4(ETFDH):c.652G>A (p.Asp218Asn) rs748289922 0.00001
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser) rs537038850 0.00001
NM_004453.4(ETFDH):c.858G>A (p.Trp286Ter) rs1235904433 0.00001
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) rs193922680 0.00001
NM_006073.4(TRDN):c.176C>T (p.Thr59Met) rs397515459 0.00001
NM_006073.4(TRDN):c.529A>T (p.Lys177Ter) rs1468290898 0.00001
NM_006073.4(TRDN):c.541G>T (p.Glu181Ter) rs1198103383 0.00001
NM_006912.6(RIT1):c.104G>C (p.Ser35Thr) rs869025189 0.00001
NM_006912.6(RIT1):c.251C>T (p.Ala84Val) rs869025196 0.00001
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln) rs121908987 0.00001
NM_024422.6(DSC2):c.1123C>T (p.Arg375Ter) rs794728075 0.00001
NM_024422.6(DSC2):c.2084G>A (p.Trp695Ter) rs963715928 0.00001
NM_024422.6(DSC2):c.34_35del (p.Gly12fs) rs1395367133 0.00001
NM_024422.6(DSC2):c.631-2A>G rs397514042 0.00001
NM_032578.4(MYPN):c.2653C>T (p.Arg885Ter) rs199476412 0.00001
NM_144573.4(NEXN):c.1171C>T (p.Arg391Ter) rs200106758 0.00001
NM_144573.4(NEXN):c.1302del (p.Ile435fs) rs747902604 0.00001
NM_144573.4(NEXN):c.799G>T (p.Glu267Ter) rs771262904 0.00001
NM_144573.4(NEXN):c.991G>T (p.Glu331Ter) rs533331740 0.00001
NM_152594.3(SPRED1):c.304dup (p.Thr102fs) rs1555391053 0.00001
NM_152594.3(SPRED1):c.46C>T (p.Arg16Ter) rs1057517941 0.00001
NM_152594.3(SPRED1):c.70C>T (p.Arg24Ter) rs121434313 0.00001
NM_152594.3(SPRED1):c.751C>T (p.Arg251Ter) rs1172820756 0.00001
NM_182961.4(SYNE1):c.13258C>T (p.Arg4420Ter) rs752224921 0.00001
NM_182961.4(SYNE1):c.14500C>T (p.Arg4834Ter) rs766129413 0.00001
NM_182961.4(SYNE1):c.17648C>A (p.Ser5883Ter) rs1300885934 0.00001
NM_182961.4(SYNE1):c.19564C>T (p.Gln6522Ter) rs781655232 0.00001
NM_182961.4(SYNE1):c.20263C>T (p.Arg6755Ter) rs780451185 0.00001
NM_182961.4(SYNE1):c.22734G>A (p.Trp7578Ter) rs780634258 0.00001
NM_182961.4(SYNE1):c.24139C>T (p.Arg8047Ter) rs1174316105 0.00001
NM_182961.4(SYNE1):c.25009C>T (p.Gln8337Ter) rs797046025 0.00001
NM_182961.4(SYNE1):c.661C>T (p.Arg221Ter) rs750266004 0.00001
NC_000001.10:g.(?_116269603)_(116269753_?)del
NC_000002.11:g.(?_219135239)_(220290732_?)del
NC_000002.11:g.(?_220283185)_(220290712_?)del
NC_000002.11:g.(?_26414109)_(26415303_?)del
NC_000002.11:g.(?_26414109)_(26462021_?)del
NC_000002.11:g.(?_26414119)_(26462031_?)del
NC_000002.11:g.(?_26416426)_(26418121_?)del
NC_000002.11:g.(?_26416436)_(26418111_?)del
NC_000002.11:g.(?_26467378)_(26467464_?)del
NC_000002.12:g.(?_219418453)_(219426000_?)del
NC_000002.12:g.(?_26236845)_(26239153_?)del
NC_000002.12:g.26201318_26201321del
NC_000004.11:g.(?_159593534)_(159629689_?)del
NC_000004.11:g.(?_159606119)_(159616730_?)del
NC_000004.11:g.(?_159611480)_(159620302_?)del
NC_000004.11:g.(?_159616098)_(159618829_?)del
NC_000004.11:g.(?_52890123)_(52904425_?)del
NC_000004.11:g.(?_52894124)_(52896039_?)del
NC_000004.11:g.(?_52899577)_(52899826_?)del
NC_000004.12:g.(?_52023947)_(52038269_?)del
NC_000004.12:g.(?_52033421)_(52033650_?)del
NC_000004.12:g.(?_52038207)_(52038279_?)del
NC_000005.10:g.(?_156329567)_(156344687_?)del
NC_000005.10:g.(?_156757561)_(156759410_?)del
NC_000005.10:g.(?_177135084)_(177295479_?)del
NC_000005.10:g.(?_177135094)_(177295469_?)del
NC_000005.10:g.(?_177235801)_(177239885_?)del
NC_000005.10:g.(?_177280545)_(177283948_?)del
NC_000005.10:g.(?_177288799)_(177288945_?)del
NC_000005.9:g.(?_155338082)_(156186411_?)del
NC_000005.9:g.(?_155756587)_(156074566_?)del
NC_000005.9:g.(?_155756587)_(156184735_?)del
NC_000005.9:g.(?_155935601)_(156074556_?)del
NC_000005.9:g.(?_156074454)_(156074566_?)del
NC_000005.9:g.(?_156184572)_(156184735_?)del
NC_000006.11:g.(?_118880085)_(118880243_?)del
NC_000006.11:g.(?_123539746)_(123957920_?)del
NC_000006.11:g.(?_133782232)_(133783922_?)del
NC_000006.11:g.(?_152485278)_(152485480_?)del
NC_000006.11:g.(?_7542149)_(7542338_?)del
NC_000006.11:g.(?_7542149)_(7586111_?)del
NC_000006.11:g.(?_7565582)_(7569583_?)del
NC_000006.11:g.(?_7567563)_(7584301_?)del
NC_000006.11:g.(?_7582855)_(7586131_?)del
NC_000006.11:g.(?_7582865)_(7586121_?)del
NC_000006.11:g.(?_7583161)_(7587903_?)del
NC_000006.12:g.(?_118548061)_(118559090_?)del
NC_000006.12:g.(?_133525015)_(133528805_?)del
NC_000006.12:g.(?_152122416)_(153426916_?)del
NC_000006.12:g.(?_7541896)_(7585898_?)del
NC_000006.12:g.(?_7541906)_(7585888_?)del
NC_000006.12:g.(?_7570417)_(7585898_?)del
NC_000006.12:g.(?_7570427)_(7585888_?)del
NC_000006.12:g.123503896TCTGT[1]
NC_000007.13:g.(?_128469483)_(128500328_?)del
NC_000007.13:g.(?_128470682)_(128498587_?)del
NC_000007.13:g.(?_128470692)_(128498577_?)del
NC_000007.13:g.(?_128475360)_(128478877_?)del
NC_000007.13:g.(?_128480619)_(128486474_?)del
NC_000007.13:g.(?_128487731)_(128488142_?)del
NC_000007.14:g.(?_128830618)_(128858543_?)del
NC_000007.14:g.(?_128848551)_(128848992_?)del
NC_000007.14:g.128837160del
NC_000007.14:g.128854417_128854448del
NC_000009.12:g.(?_124481358)_(124505411_?)del
NC_000010.10:g.(?_121411178)_(121437012_?)del
NC_000010.10:g.(?_121411188)_(121411387_?)del
NC_000010.10:g.(?_121435956)_(121436794_?)del
NC_000010.10:g.(?_69918233)_(69926433_?)del
NC_000010.10:g.(?_69961566)_(69961771_?)del
NC_000010.11:g.(?_119676454)_(119677500_?)del
NC_000011.10:g.(?_2883979)_(2885755_?)del
NC_000011.10:g.(?_47331845)_(47336011_?)del
NC_000011.10:g.(?_47331851)_(47348561_?)del
NC_000011.10:g.(?_47331851)_(47352667_?)del
NC_000011.10:g.(?_47332546)_(47334030_?)del
NC_000011.10:g.(?_47335857)_(47338759_?)del
NC_000011.10:g.(?_47347406)_(47352667_?)del
NC_000011.10:g.(?_47348566)_(47351515_?)del
NC_000011.10:g.(?_47349774)_(47351505_?)del
NC_000011.10:g.47335210del rs2142853045
NC_000011.10:g.47336007_47336016del
NC_000011.10:g.47336012del
NC_000011.10:g.47350113del rs771005018
NC_000011.9:g.(?_111779478)_(111782458_?)del
NC_000011.9:g.(?_111779488)_(111780026_?)del
NC_000011.9:g.(?_111779488)_(111782448_?)del
NC_000011.9:g.(?_2905228)_(2906725_?)del
NC_000011.9:g.(?_46880514)_(47470726_?)del
NC_000011.9:g.(?_47353422)_(47356780_?)del
NC_000011.9:g.(?_47353958)_(47355505_?)del
NC_000011.9:g.(?_47353958)_47355505del
NC_000011.9:g.(?_47357408)_(47360250_?)del
NC_000011.9:g.(?_47357408)_(47374198_?)del
NC_000011.9:g.(?_47357416)_(47360310_?)del
NC_000011.9:g.(?_47360865)_(47369466_?)del
NC_000011.9:g.(?_47363401)_47367757del
NC_000011.9:g.(?_47364109)_(47374198_?)del
NC_000011.9:g.(?_47364119)_(47374208_?)del
NC_000011.9:g.(?_47371305)_(47374198_?)del
NC_000012.11:g.(?_32945338)_(32977116_?)del
NC_000012.11:g.(?_32945348)_(32949242_?)del
NC_000012.11:g.(?_32945358)_(32949252_?)del
NC_000012.11:g.(?_32949023)_(32955510_?)del
NC_000012.11:g.(?_32949033)_(32955500_?)del
NC_000012.11:g.(?_33003680)_(33003927_?)del
NC_000012.11:g.(?_33003694)_(33003913_?)del
NC_000012.11:g.(?_33021841)_(33022016_?)del
NC_000012.11:g.(?_33021841)_(33031986_?)del
NC_000012.11:g.(?_33021851)_(33031976_?)del
NC_000012.11:g.(?_33030760)_(33031986_?)del
NC_000012.11:g.(?_33030760)_(33049665_?)del
NC_000012.12:g.(?_110910819)_(110911175_?)del
NC_000012.12:g.(?_32792404)_(32896751_?)del
NC_000012.12:g.(?_32792414)_(32896741_?)del
NC_000012.12:g.(?_32802383)_(32802576_?)del
NC_000012.12:g.(?_32824025)_(32824182_?)del
NC_000012.12:g.(?_32824035)_(32824172_?)del
NC_000012.12:g.(?_32850756)_(32850983_?)del
NC_000012.12:g.(?_32868917)_(32869072_?)del
NC_000012.12:g.(?_32877836)_(32879042_?)del
NC_000012.12:g.(?_32877836)_(32896741_?)del
NC_000012.12:g.(?_32877846)_(32879032_?)del
NC_000013.10:g.(?_23755215)_(23853627_?)del
NC_000013.10:g.(?_23808730)_(23808871_?)del
NC_000013.10:g.(?_23824749)_(23853637_?)del
NC_000013.10:g.(?_23898487)_(24463459_?)del
NC_000013.10:g.(?_23898497)_(23898690_?)del
NC_000013.11:g.(?_23093196)_(23203899_?)del
NC_000013.11:g.(?_23093196)_(23411249_?)del
NC_000013.11:g.(?_23093196)_(23411259_?)del
NC_000013.11:g.(?_23203675)_(23279498_?)del
NC_000013.11:g.(?_23203685)_(23203899_?)del
NC_000013.11:g.(?_23320627)_(23320770_?)del
NC_000015.10:g.(?_38253166)_(39021201_?)del
NC_000015.10:g.(?_38253180)_(38351670_?)del
NC_000015.10:g.(?_38253186)_(38253227_?)del
NC_000015.10:g.(?_38299363)_(38324819_?)del
NC_000015.10:g.(?_38299373)_(38357249_?)del
NC_000015.10:g.(?_76311340)_(76311398_?)del
NC_000015.9:g.(?_38545367)_(38545438_?)del
NC_000015.9:g.(?_38545387)_(38545438_?)del
NC_000015.9:g.(?_38545387)_(38643865_?)del
NC_000015.9:g.(?_38591568)_(38643870_?)del
NC_000015.9:g.(?_38614422)_(38617030_?)del
NC_000015.9:g.(?_76508890)_(76603739_?)del
NC_000015.9:g.(?_76580177)_(76585051_?)del
NC_000017.10:g.(?_48243138)_(48245027_?)del
NC_000017.10:g.(?_48243138)_48245027del
NC_000017.10:g.(?_48243336)_(48246625_?)del
NC_000017.10:g.(?_48243336)_(48253303_?)del
NC_000017.10:g.(?_6589506)_(7128436_?)del
NC_000017.10:g.(?_7123304)_(8193254_?)del
NC_000017.10:g.(?_7124120)_(7128078_?)del
NC_000017.10:g.(?_7126433)_(7126544_?)del
NC_000017.10:g.(?_78082486)_(78087175_?)del
NC_000017.10:g.(?_78084516)_(78084834_?)del
NC_000017.10:g.(?_78085283)_(78092476_?)del
NC_000017.10:g.(?_78090757)_(78092614_?)del
NC_000017.10:g.(?_78091652)_78092189del
NC_000017.10:g.(?_78091972)_(78092176_?)del
NC_000017.11:g.(?_41771637)_(41771864_?)del
NC_000017.11:g.(?_80104542)_(80105914_?)del
NC_000017.11:g.(?_80108677)_(80113386_?)del
NC_000017.11:g.(?_80109935)_(80113376_?)del
NC_000017.11:g.(?_80118183)_(80118367_?)del
NC_000017.11:g.(?_80118193)_(80118357_?)del
NC_000018.10:g.(?_31070706)_(31070870_?)del
NC_000018.10:g.(?_31092081)_(31101991_?)del
NC_000018.9:g.(?_28654629)_(28673626_?)dup
NC_000018.9:g.(?_28673522)_(28673606_?)del
NC_000018.9:g.(?_28681846)_(28681934_?)del
NC_000018.9:g.(?_29115213)_(29126706_?)del
NC_000018.9:g.(?_29115223)_(29118951_?)del
NC_000019.9:g.(?_51727962)_(51890697_?)del
NC_000023.10:g.(?_135288556)_(135293528_?)del
NC_000023.10:g.(?_152014869)_(155171615_?)del
NC_000023.10:g.(?_152990712)_(153650075_?)del
NC_000023.10:g.(?_153607393)_(153608624_?)del
NC_000023.10:g.(?_153607825)_(153609577_?)del
NC_000023.10:g.(?_153607835)_(153609567_?)del
NC_000023.10:g.(?_153609093)_(153609182_?)del
NC_000023.10:g.(?_153639844)_(153642537_?)del
NC_000023.10:g.(?_153640161)_(153649363_?)del
NC_000023.10:g.(?_153647872)_(153650075_?)del
NC_000023.10:g.(?_28807461)_(33229429_?)dup
NC_000023.10:g.(?_30322696)_(30327480_?)del
NM_000018.3(ACADVL):c.1375dup rs796051916
NM_000018.3(ACADVL):c.625del rs2071251239
NM_000018.4(ACADVL):c.1007_1026del (p.Ile336fs) rs1567565643
NM_000018.4(ACADVL):c.100_104dup (p.Arg37fs) rs2142960989
NM_000018.4(ACADVL):c.1013_1016del (p.Asn338fs)
NM_000018.4(ACADVL):c.1039del (p.Ala347fs) rs2071295244
NM_000018.4(ACADVL):c.103_112del (p.Pro35fs) rs1329022268
NM_000018.4(ACADVL):c.103_112dup (p.Arg38fs)
NM_000018.4(ACADVL):c.1043_1065dup (p.Ile356delinsTrpGlnValProTer) rs1555528508
NM_000018.4(ACADVL):c.104del (p.Pro35fs) rs1443151475
NM_000018.4(ACADVL):c.1056_1058delinsA (p.Met352fs) rs2071296591
NM_000018.4(ACADVL):c.1059_1060del (p.Gly354fs) rs1402646371
NM_000018.4(ACADVL):c.105_109dup (p.Arg37fs) rs1555527532
NM_000018.4(ACADVL):c.1062CAT[1] (p.Ile356del) rs754325237
NM_000018.4(ACADVL):c.1077+1G>A rs140989450
NM_000018.4(ACADVL):c.1077+2T>C rs1057516370
NM_000018.4(ACADVL):c.1093_1094insT (p.Asn365fs) rs2142982040
NM_000018.4(ACADVL):c.1102_1103del (p.Gln368fs) rs1567566228
NM_000018.4(ACADVL):c.1113del (p.Ile373fs) rs1057517416
NM_000018.4(ACADVL):c.1138C>T (p.Gln380Ter) rs781467053
NM_000018.4(ACADVL):c.1138dup (p.Gln380fs) rs2142982293
NM_000018.4(ACADVL):c.1141_1143del (p.Glu381del) rs1057517281
NM_000018.4(ACADVL):c.1144A>C (p.Lys382Gln) rs118204015
NM_000018.4(ACADVL):c.1145del (p.Lys382fs) rs1281137823
NM_000018.4(ACADVL):c.1151_1154dup (p.Met386fs) rs2142982389
NM_000018.4(ACADVL):c.1155del (p.Met386fs)
NM_000018.4(ACADVL):c.1168C>T (p.Gln390Ter)
NM_000018.4(ACADVL):c.1173T>A (p.Tyr391Ter) rs2071316298
NM_000018.4(ACADVL):c.1182+1G>T
NM_000018.4(ACADVL):c.1186A>G (p.Met396Val) rs2071337130
NM_000018.4(ACADVL):c.1194C>A (p.Tyr398Ter) rs1597533847
NM_000018.4(ACADVL):c.1194C>G (p.Tyr398Ter)
NM_000018.4(ACADVL):c.1243GCC[1] (p.Ala416del)
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr) rs118204018
NM_000018.4(ACADVL):c.1251del (p.Ser418fs) rs2142984544
NM_000018.4(ACADVL):c.1253G>A (p.Ser418Asn) rs1555528737
NM_000018.4(ACADVL):c.1269+1G>A rs773401248
NM_000018.4(ACADVL):c.1269+1del rs2071340733
NM_000018.4(ACADVL):c.1280G>A (p.Trp427Ter) rs1057516519
NM_000018.4(ACADVL):c.1283del (p.Lys428fs) rs1555528745
NM_000018.4(ACADVL):c.128del (p.Gly43fs) rs2071123075
NM_000018.4(ACADVL):c.1290dup (p.Asp431fs)
NM_000018.4(ACADVL):c.1294G>T (p.Glu432Ter) rs1597534677
NM_000018.4(ACADVL):c.1310T>C (p.Met437Thr) rs2071345821
NM_000018.4(ACADVL):c.1316G>C (p.Gly439Ala) rs533055438
NM_000018.4(ACADVL):c.1316del (p.Gly439fs) rs748077880
NM_000018.4(ACADVL):c.1316dup (p.Met440fs) rs748077880
NM_000018.4(ACADVL):c.1317dup (p.Met440fs) rs1567567440
NM_000018.4(ACADVL):c.1318_1319dup (p.Met440fs)
NM_000018.4(ACADVL):c.1322G>C (p.Gly441Ala) rs2309689
NM_000018.4(ACADVL):c.1328T>C (p.Met443Thr) rs886043236
NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg) rs886043236
NM_000018.4(ACADVL):c.1332+2T>C
NM_000018.4(ACADVL):c.1367G>A (p.Arg456His) rs794727112
NM_000018.4(ACADVL):c.1377del (p.Ile460fs)
NM_000018.4(ACADVL):c.1389del (p.Thr464fs) rs398123082
NM_000018.4(ACADVL):c.1389dup (p.Thr464fs) rs398123082
NM_000018.4(ACADVL):c.1409del (p.Leu470fs) rs2071356603
NM_000018.4(ACADVL):c.1413T>G (p.Phe471Leu)
NM_000018.4(ACADVL):c.1455dup (p.Gly486fs)
NM_000018.4(ACADVL):c.145_146dup (p.Asp50fs) rs1567560601
NM_000018.4(ACADVL):c.1475dup (p.Asn493fs)
NM_000018.4(ACADVL):c.1490del (p.Asn497fs)
NM_000018.4(ACADVL):c.1497CCT[1] (p.Leu502del) rs762619071
NM_000018.4(ACADVL):c.1508del (p.Gly503fs) rs1214222702
NM_000018.4(ACADVL):c.1520A>T (p.Lys507Ile)
NM_000018.4(ACADVL):c.1522C>T (p.Gln508Ter)
NM_000018.4(ACADVL):c.1567G>T (p.Gly523Ter)
NM_000018.4(ACADVL):c.1587G>T (p.Leu529Phe) rs2142987900
NM_000018.4(ACADVL):c.1605+1G>A
NM_000018.4(ACADVL):c.1605+1G>C rs2142988018
NM_000018.4(ACADVL):c.1605+1G>T rs2142988018
NM_000018.4(ACADVL):c.1605+2T>C rs1597537351
NM_000018.4(ACADVL):c.1611_1627dup (p.Phe543fs)
NM_000018.4(ACADVL):c.1624C>T (p.Gln542Ter)
NM_000018.4(ACADVL):c.1630_1645del (p.Ala544fs) rs1131691553
NM_000018.4(ACADVL):c.1636del (p.Val546fs)
NM_000018.4(ACADVL):c.1640del (p.Val547fs)
NM_000018.4(ACADVL):c.1652_1653dup (p.Ile552Ter)
NM_000018.4(ACADVL):c.1659del (p.Lys553fs)
NM_000018.4(ACADVL):c.1682_1701del (p.Glu561fs)
NM_000018.4(ACADVL):c.1684_1685del (p.Gln562fs) rs2071393587
NM_000018.4(ACADVL):c.1736del (p.Val579fs)
NM_000018.4(ACADVL):c.1738del (p.Val580fs)
NM_000018.4(ACADVL):c.1739_1751del (p.Val580fs) rs2142990005
NM_000018.4(ACADVL):c.1757C>G (p.Ser586Ter)
NM_000018.4(ACADVL):c.175_182del (p.Ala59fs)
NM_000018.4(ACADVL):c.1770_1773del (p.Ser590fs) rs1555529048
NM_000018.4(ACADVL):c.1806_1807del (p.Leu602_Cys603insTer) rs796051917
NM_000018.4(ACADVL):c.1808del (p.Cys603fs) rs2142990894
NM_000018.4(ACADVL):c.1818G>A (p.Trp606Ter) rs2071404265
NM_000018.4(ACADVL):c.1838G>C (p.Arg613Pro)
NM_000018.4(ACADVL):c.1838_1839delinsAA (p.Arg613Gln)
NM_000018.4(ACADVL):c.1838_1841dup (p.Ile614fs)
NM_000018.4(ACADVL):c.1843C>T (p.Arg615Ter) rs1057520507
NM_000018.4(ACADVL):c.1857dup (p.Ala620fs)
NM_000018.4(ACADVL):c.1878G>A (p.Trp626Ter) rs1555529186
NM_000018.4(ACADVL):c.1882del (p.Gln628fs) rs1597541142
NM_000018.4(ACADVL):c.1908dup (p.Ile637fs) rs1555529204
NM_000018.4(ACADVL):c.1909_1912dup (p.Ser638fs) rs2071413180
NM_000018.4(ACADVL):c.190A>T (p.Lys64Ter) rs2142964399
NM_000018.4(ACADVL):c.192del (p.Lys64fs) rs771055189
NM_000018.4(ACADVL):c.192dup (p.Pro65fs) rs771055189
NM_000018.4(ACADVL):c.199A>T (p.Lys67Ter) rs765432568
NM_000018.4(ACADVL):c.266del (p.Pro89fs) rs771808680
NM_000018.4(ACADVL):c.277+2T>C rs1555527745
NM_000018.4(ACADVL):c.277+2T>G rs1555527745
NM_000018.4(ACADVL):c.294G>T (p.Gln98His) rs794727695
NM_000018.4(ACADVL):c.294_297del (p.Gln98fs) rs2071168842
NM_000018.4(ACADVL):c.298_299del (p.Gln100fs) rs786204713
NM_000018.4(ACADVL):c.303del (p.Glu104fs) rs2142967119
NM_000018.4(ACADVL):c.307_323dup (p.Val109fs) rs1597520263
NM_000018.4(ACADVL):c.308_309del (p.Lys103fs) rs1057516979
NM_000018.4(ACADVL):c.313_316del (p.Leu105fs)
NM_000018.4(ACADVL):c.320del (p.Glu107fs)
NM_000018.4(ACADVL):c.335del (p.Phe112fs) rs764028320
NM_000018.4(ACADVL):c.339C>A (p.Phe113Leu) rs750653177
NM_000018.4(ACADVL):c.342+1G>C rs780020193
NM_000018.4(ACADVL):c.343del rs387906249
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del) rs387906251
NM_000018.4(ACADVL):c.388del (p.Glu130fs) rs2142969054
NM_000018.4(ACADVL):c.401dup (p.Leu136fs)
NM_000018.4(ACADVL):c.410del (p.Lys137fs)
NM_000018.4(ACADVL):c.419G>A (p.Gly140Glu) rs2071185757
NM_000018.4(ACADVL):c.421dup (p.Ala141fs) rs2071185652
NM_000018.4(ACADVL):c.428_467del (p.Gly143fs) rs758144859
NM_000018.4(ACADVL):c.433C>T (p.Gln145Ter) rs786204738
NM_000018.4(ACADVL):c.436G>C (p.Val146Leu) rs398123089
NM_000018.4(ACADVL):c.437T>G (p.Val146Gly) rs2142969655
NM_000018.4(ACADVL):c.465_466dup (p.Cys156fs) rs2142969858
NM_000018.4(ACADVL):c.480C>G (p.Tyr160Ter) rs371910495
NM_000018.4(ACADVL):c.481G>A (p.Ala161Thr) rs375284481
NM_000018.4(ACADVL):c.483_484del (p.Arg162fs)
NM_000018.4(ACADVL):c.488dup (p.Leu163fs) rs2142974010
NM_000018.4(ACADVL):c.491T>G (p.Val164Gly) rs2071225938
NM_000018.4(ACADVL):c.4C>T (p.Gln2Ter)
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del) rs796051920
NM_000018.4(ACADVL):c.532del (p.Leu178fs)
NM_000018.4(ACADVL):c.544C>T (p.Gln182Ter)
NM_000018.4(ACADVL):c.545dup (p.Ser183fs)
NM_000018.4(ACADVL):c.552del (p.Ile184fs) rs1597525249
NM_000018.4(ACADVL):c.562G>A (p.Gly188Ser) rs2071231356
NM_000018.4(ACADVL):c.565_587del (p.Ile189fs) rs1258134795
NM_000018.4(ACADVL):c.58G>T (p.Gly20Ter)
NM_000018.4(ACADVL):c.595G>T (p.Glu199Ter)
NM_000018.4(ACADVL):c.601T>C (p.Tyr201His) rs2071233789
NM_000018.4(ACADVL):c.602A>G (p.Tyr201Cys) rs1597525536
NM_000018.4(ACADVL):c.604C>G (p.Leu202Val)
NM_000018.4(ACADVL):c.609del (p.Lys204fs)
NM_000018.4(ACADVL):c.619T>C (p.Ser207Pro) rs768975918
NM_000018.4(ACADVL):c.621_622+9del
NM_000018.4(ACADVL):c.626dup (p.Thr210fs) rs2142976531
NM_000018.4(ACADVL):c.632_633del (p.Val211fs) rs1489679976
NM_000018.4(ACADVL):c.635C>T (p.Ala212Val) rs2142976575
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr) rs140629318
NM_000018.4(ACADVL):c.640_643del (p.Phe214fs) rs2142976616
NM_000018.4(ACADVL):c.642_643del (p.Phe214fs) rs1186576451
NM_000018.4(ACADVL):c.644_647del (p.Phe214_Cys215insTer) rs1057516714
NM_000018.4(ACADVL):c.652G>A (p.Glu218Lys) rs1432183079
NM_000018.4(ACADVL):c.659_672del (p.Ser220fs)
NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter) rs727503788
NM_000018.4(ACADVL):c.664G>C (p.Gly222Arg) rs398123091
NM_000018.4(ACADVL):c.686_726del (p.Arg229fs)
NM_000018.4(ACADVL):c.688dup (p.Thr230fs) rs2071255080
NM_000018.4(ACADVL):c.708_709del (p.Cys237fs) rs1555528304
NM_000018.4(ACADVL):c.711_712del (p.Cys237fs) rs2071256607
NM_000018.4(ACADVL):c.716_717del (p.Lys239fs)
NM_000018.4(ACADVL):c.733G>T (p.Gly245Ter)
NM_000018.4(ACADVL):c.739A>T (p.Lys247Ter)
NM_000018.4(ACADVL):c.746G>A (p.Trp249Ter) rs2071258420
NM_000018.4(ACADVL):c.747G>A (p.Trp249Ter) rs141167669
NM_000018.4(ACADVL):c.753-1G>A
NM_000018.4(ACADVL):c.761G>A (p.Gly254Asp)
NM_000018.4(ACADVL):c.773T>C (p.Ile258Thr) rs1197133430
NM_000018.4(ACADVL):c.776_777insA (p.Phe259fs)
NM_000018.4(ACADVL):c.797_798del (p.Pro266fs) rs2071266269
NM_000018.4(ACADVL):c.800T>G (p.Val267Gly)
NM_000018.4(ACADVL):c.809del (p.Pro270fs) rs1567564499
NM_000018.4(ACADVL):c.826_849del (p.Lys276_Val283del) rs1555528367
NM_000018.4(ACADVL):c.829G>T (p.Glu277Ter)
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000018.4(ACADVL):c.830AGA[1] (p.Lys278del) rs769280599
NM_000018.4(ACADVL):c.856_857del (p.Arg286fs) rs2071269046
NM_000018.4(ACADVL):c.869del (p.Gly290fs) rs886044671
NM_000018.4(ACADVL):c.869dup (p.Ile291fs) rs886044671
NM_000018.4(ACADVL):c.877del (p.His293fs)
NM_000018.4(ACADVL):c.890AGA[2] (p.Lys299del) rs387906252
NM_000018.4(ACADVL):c.898A>G (p.Met300Val) rs1026112888
NM_000018.4(ACADVL):c.904del (p.Ile302fs)
NM_000018.4(ACADVL):c.907_908del (p.Lys303fs)
NM_000018.4(ACADVL):c.918C>A (p.Asn306Lys) rs2071288883
NM_000018.4(ACADVL):c.926_927del (p.Glu309fs) rs2071289046
NM_000018.4(ACADVL):c.932del (p.Phe311fs) rs764488310
NM_000018.4(ACADVL):c.946C>T (p.Arg316Trp)
NM_000018.4(ACADVL):c.953C>T (p.Pro318Leu) rs201676770
NM_000018.4(ACADVL):c.956C>A (p.Ser319Ter) rs149467828
NM_000018.4(ACADVL):c.959dup (p.Asn321fs)
NM_000018.4(ACADVL):c.965T>C (p.Val322Ala)
NM_000018.4(ACADVL):c.996del (p.Ala333fs) rs1057516843
NM_000018.4(ACADVL):c.996dup (p.Ala333fs) rs1057516843
NM_000023.4(SGCA):c.1025_1026del (p.Glu342fs)
NM_000023.4(SGCA):c.1039_1042dup (p.Ala348fs) rs1598277713
NM_000023.4(SGCA):c.1054G>T (p.Glu352Ter) rs763372958
NM_000023.4(SGCA):c.105del (p.Phe36fs) rs2144493323
NM_000023.4(SGCA):c.132_135dup (p.Leu46fs) rs2144493427
NM_000023.4(SGCA):c.168del (p.Ala57fs) rs1555568264
NM_000023.4(SGCA):c.186C>G (p.Tyr62Ter) rs766400853
NM_000023.4(SGCA):c.1A>G (p.Met1Val)
NM_000023.4(SGCA):c.203G>A (p.Gly68Glu) rs2144494148
NM_000023.4(SGCA):c.203del (p.Gly68fs) rs1567739228
NM_000023.4(SGCA):c.218C>G (p.Pro73Arg)
NM_000023.4(SGCA):c.225del (p.Trp75fs)
NM_000023.4(SGCA):c.226C>T (p.Leu76Phe) rs1555568335
NM_000023.4(SGCA):c.229dup (p.Arg77fs)
NM_000023.4(SGCA):c.233_234delinsGA (p.Tyr78Ter) rs1598265248
NM_000023.4(SGCA):c.236_237insA (p.Gln80fs) rs1567739339
NM_000023.4(SGCA):c.238C>T (p.Gln80Ter) rs2144494297
NM_000023.4(SGCA):c.241C>T (p.Arg81Cys) rs398123098
NM_000023.4(SGCA):c.250dup (p.His84fs)
NM_000023.4(SGCA):c.265C>T (p.Leu89Phe) rs773161308
NM_000023.4(SGCA):c.26dup (p.Leu10fs) rs1904771410
NM_000023.4(SGCA):c.292C>G (p.Arg98Gly) rs138945081
NM_000023.4(SGCA):c.293G>C (p.Arg98Pro) rs137852621
NM_000023.4(SGCA):c.29_33del (p.Leu10fs)
NM_000023.4(SGCA):c.308T>C (p.Ile103Thr) rs1161291343
NM_000023.4(SGCA):c.313_319del (p.Val105Profs)
NM_000023.4(SGCA):c.317_318del (p.Thr106fs) rs1567739735
NM_000023.4(SGCA):c.322_325dup (p.Asn109fs) rs1555568518
NM_000023.4(SGCA):c.348_352dup (p.Gln118fs) rs752640127
NM_000023.4(SGCA):c.364C>G (p.Leu122Val) rs1567739857
NM_000023.4(SGCA):c.377dup (p.Asp126fs) rs1905070544
NM_000023.4(SGCA):c.391del (p.Leu131fs) rs144356125
NM_000023.4(SGCA):c.402C>A (p.Tyr134Ter) rs780264754
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter) rs780264754
NM_000023.4(SGCA):c.408del (p.Glu137fs) rs1905103030
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln) rs372210292
NM_000023.4(SGCA):c.464del (p.Ser155fs) rs1555568775
NM_000023.4(SGCA):c.488del (p.Gly163fs)
NM_000023.4(SGCA):c.488dup (p.Leu164fs) rs763986788
NM_000023.4(SGCA):c.585-2A>C rs1555568965
NM_000023.4(SGCA):c.596del (p.Lys199fs)
NM_000023.4(SGCA):c.618_619del (p.Ser207fs)
NM_000023.4(SGCA):c.658_659del (p.Ala220fs) rs1905167458
NM_000023.4(SGCA):c.676C>T (p.Gln226Ter) rs1567741398
NM_000023.4(SGCA):c.70C>T (p.Gln24Ter) rs2144493135
NM_000023.4(SGCA):c.724G>T (p.Val242Phe) rs200166783
NM_000023.4(SGCA):c.770del (p.Pro257fs) rs886043962
NM_000023.4(SGCA):c.790_791dup (p.Gly265fs) rs1905254738
NM_000023.4(SGCA):c.801dup (p.Ile268fs) rs1905256830
NM_000023.4(SGCA):c.828C>A (p.Cys276Ter) rs2144500924
NM_000023.4(SGCA):c.862del (p.Val288fs) rs2144501024
NM_000023.4(SGCA):c.86dup (p.His29fs) rs1904986620
NM_000023.4(SGCA):c.904del (p.Leu302fs) rs2144501172
NM_000023.4(SGCA):c.905T>G (p.Leu302Arg) rs760989961
NM_000023.4(SGCA):c.929_930del (p.Tyr310fs) rs1555569329
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro) rs903823830
NM_000023.4(SGCA):c.95T>C (p.Val32Ala) rs1017592342
NM_000116.5(TAFAZZIN):c.109+5G>A rs2148185111
NM_000116.5(TAFAZZIN):c.110-2A>G rs1603376833
NM_000116.5(TAFAZZIN):c.129del (p.Val44fs) rs2148186224
NM_000116.5(TAFAZZIN):c.153C>A (p.Tyr51Ter)
NM_000116.5(TAFAZZIN):c.238+1del
NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg) rs1557191170
NM_000116.5(TAFAZZIN):c.280C>T (p.Arg94Cys) rs104894942
NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His) rs1060500044
NM_000116.5(TAFAZZIN):c.281G>T (p.Arg94Leu) rs1060500044
NM_000116.5(TAFAZZIN):c.293_294insTTAGGACCCC (p.Ala98_Ala99insTer) rs2148191858
NM_000116.5(TAFAZZIN):c.367C>T (p.Arg123Ter) rs1569552731
NM_000116.5(TAFAZZIN):c.370G>T (p.Gly124Ter) rs1603377945
NM_000116.5(TAFAZZIN):c.536del (p.Pro179fs)
NM_000116.5(TAFAZZIN):c.553A>G (p.Met185Val)
NM_000116.5(TAFAZZIN):c.562G>T (p.Glu188Ter)
NM_000116.5(TAFAZZIN):c.575del (p.Phe192fs)
NM_000116.5(TAFAZZIN):c.582G>A (p.Trp194Ter) rs794729167
NM_000116.5(TAFAZZIN):c.586del (p.Ile196fs)
NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg) rs132630277
NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg) rs1085307797
NM_000116.5(TAFAZZIN):c.697C>T (p.Gln233Ter) rs1603381860
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg) rs387907218
NM_000117.3(EMD):c.102C>G (p.Tyr34Ter) rs2148128122
NM_000117.3(EMD):c.123C>A (p.Tyr41Ter) rs1060502612
NM_000117.3(EMD):c.12C>G (p.Tyr4Ter) rs782011714
NM_000117.3(EMD):c.130C>T (p.Gln44Ter) rs132630262
NM_000117.3(EMD):c.135dup (p.Arg46fs) rs1557182301
NM_000117.3(EMD):c.143dup (p.Ser49fs)
NM_000117.3(EMD):c.153del (p.Ser52fs) rs876661345
NM_000117.3(EMD):c.153dup (p.Ser52fs) rs876661345
NM_000117.3(EMD):c.187+1G>A rs794729010
NM_000117.3(EMD):c.187+1G>T rs794729010
NM_000117.3(EMD):c.187+2T>G
NM_000117.3(EMD):c.1A>G (p.Met1Val) rs267606782
NM_000117.3(EMD):c.217_218dup (p.Met73fs) rs1557182364
NM_000117.3(EMD):c.251_255del (p.Leu84fs) rs782452523
NM_000117.3(EMD):c.256C>T (p.Gln86Ter)
NM_000117.3(EMD):c.262A>T (p.Lys88Ter)
NM_000117.3(EMD):c.282C>G (p.Tyr94Ter)
NM_000117.3(EMD):c.2T>G (p.Met1Arg) rs2148127941
NM_000117.3(EMD):c.391_397dup (p.Gln133fs)
NM_000117.3(EMD):c.397C>T (p.Gln133Ter)
NM_000117.3(EMD):c.399+1G>T rs2148128554
NM_000117.3(EMD):c.399+2T>C
NM_000117.3(EMD):c.3G>A (p.Met1Ile) rs886044771
NM_000117.3(EMD):c.430G>T (p.Glu144Ter) rs1557182560
NM_000117.3(EMD):c.450-2A>G rs398123158
NM_000117.3(EMD):c.475_476del (p.Ser159fs) rs2067883871
NM_000117.3(EMD):c.483C>G (p.Tyr161Ter) rs2148128811
NM_000117.3(EMD):c.484C>T (p.Gln162Ter) rs1557182611
NM_000117.3(EMD):c.512C>A (p.Ser171Ter) rs886044901
NM_000117.3(EMD):c.545_547del (p.Tyr182_Pro183delinsSer) rs794729019
NM_000117.3(EMD):c.546T>A (p.Tyr182Ter)
NM_000117.3(EMD):c.548C>A (p.Pro183His) rs104894805
NM_000117.3(EMD):c.561_567dup (p.Phe190fs) rs2148128862
NM_000117.3(EMD):c.570del (p.Phe190fs) rs2148128871
NM_000117.3(EMD):c.570dup (p.Met191fs) rs2148128871
NM_000117.3(EMD):c.581C>G (p.Ser194Ter)
NM_000117.3(EMD):c.581_582del (p.Ser194fs) rs1557182654
NM_000117.3(EMD):c.600G>A (p.Trp200Ter) rs1557182661
NM_000117.3(EMD):c.607del (p.Arg203fs) rs1569552106
NM_000117.3(EMD):c.60del (p.Asn20fs) rs886041854
NM_000117.3(EMD):c.619del (p.Arg207fs) rs2067885544
NM_000117.3(EMD):c.621del (p.Pro208fs) rs1557182670
NM_000117.3(EMD):c.640_644dup (p.Gln219fs) rs1557182676
NM_000117.3(EMD):c.643_653dup (p.Gln219fs) rs2148128961
NM_000117.3(EMD):c.643del (p.Ala215fs)
NM_000117.3(EMD):c.650_654del (p.Leu217fs) rs730880352
NM_000117.3(EMD):c.650_654dup (p.Gln219fs) rs730880352
NM_000117.3(EMD):c.651_655dup (p.Gln219fs)
NM_000117.3(EMD):c.674del (p.Leu225fs)
NM_000117.3(EMD):c.676_677del (p.Trp226fs)
NM_000117.3(EMD):c.77dup (p.Val27fs) rs2067873691
NM_000117.3(EMD):c.79del (p.Val26_Val27insTer)
NM_000117.3(EMD):c.83-2A>C rs727504901
NM_000126.4(ETFA):c.15_25dup (p.Gln9fs) rs1384386872
NM_000126.4(ETFA):c.177del (p.Lys59fs)
NM_000126.4(ETFA):c.203_204del (p.Leu67_Cys68insTer)
NM_000126.4(ETFA):c.284dup (p.Leu95fs)
NM_000126.4(ETFA):c.285del (p.Ile96fs) rs2039775781
NM_000126.4(ETFA):c.298_325del (p.Gln100fs)
NM_000126.4(ETFA):c.311_312del (p.Asn104fs)
NM_000126.4(ETFA):c.319_322del (p.His107fs) rs866218814
NM_000126.4(ETFA):c.321_322del (p.Ile108fs) rs866218814
NM_000126.4(ETFA):c.322_323del (p.Ile108fs)
NM_000126.4(ETFA):c.369dup (p.Ala124fs)
NM_000126.4(ETFA):c.37dup (p.Ala13fs)
NM_000126.4(ETFA):c.427dup (p.Thr143fs) rs2039717357
NM_000126.4(ETFA):c.44C>A (p.Ser15Ter) rs1047426224
NM_000126.4(ETFA):c.461dup (p.Cys155fs)
NM_000126.4(ETFA):c.478del (p.Asp160fs) rs2039705645
NM_000126.4(ETFA):c.495_496del (p.Ser167fs) rs1298299792
NM_000126.4(ETFA):c.556G>T (p.Glu186Ter)
NM_000126.4(ETFA):c.560del (p.Lys187fs)
NM_000126.4(ETFA):c.593_594del (p.Glu198fs)
NM_000126.4(ETFA):c.597G>A (p.Trp199Ter)
NM_000126.4(ETFA):c.624del (p.Arg209fs) rs1596218695
NM_000126.4(ETFA):c.693dup (p.Lys232Ter) rs754050501
NM_000126.4(ETFA):c.793C>T (p.Gln265Ter) rs757409121
NM_000126.4(ETFA):c.826_833dup (p.Gly279fs)
NM_000152.5(GAA):c.-32-385_143del
NM_000152.5(GAA):c.-32-3C>A rs1055945806
NM_000152.5(GAA):c.1001G>A (p.Gly334Asp) rs2039143109
NM_000152.5(GAA):c.1003G>A (p.Gly335Arg) rs202095215
NM_000152.5(GAA):c.1004G>A (p.Gly335Glu) rs730880022
NM_000152.5(GAA):c.1030_1031del (p.Gly344fs) rs1567829962
NM_000152.5(GAA):c.1051del (p.Val351fs) rs786204507
NM_000152.5(GAA):c.1054C>T (p.Gln352Ter)
NM_000152.5(GAA):c.1062C>A (p.Tyr354Ter) rs1064796703
NM_000152.5(GAA):c.1075G>A (p.Gly359Arg)
NM_000152.5(GAA):c.1075G>T (p.Gly359Ter) rs1064794288
NM_000152.5(GAA):c.1082dup (p.Phe362fs) rs2143854537
NM_000152.5(GAA):c.1091del (p.Pro364fs) rs2143854659
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg) rs1555600061
NM_000152.5(GAA):c.1100G>A (p.Trp367Ter) rs1478500490
NM_000152.5(GAA):c.1105dup (p.Leu369fs)
NM_000152.5(GAA):c.1115A>T (p.His372Leu) rs1057516520
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu) rs142752477
NM_000152.5(GAA):c.1128_1129delinsC (p.Trp376fs) rs786204646
NM_000152.5(GAA):c.1134C>A (p.Tyr378Ter) rs1567830317
NM_000152.5(GAA):c.1143del (p.Ala382fs) rs757458607
NM_000152.5(GAA):c.1165del (p.Glu389fs) rs1555600111
NM_000152.5(GAA):c.1192del (p.Leu398fs) rs1057516546
NM_000152.5(GAA):c.1193del (p.Leu398fs) rs1057517286
NM_000152.5(GAA):c.1198del (p.Val400fs)
NM_000152.5(GAA):c.1214T>C (p.Leu405Pro) rs2143857207
NM_000152.5(GAA):c.1219T>C (p.Tyr407His) rs727503939
NM_000152.5(GAA):c.1225dup (p.Asp409fs) rs2039157751
NM_000152.5(GAA):c.1241del (p.Phe414fs)
NM_000152.5(GAA):c.1274del (p.Pro425fs)
NM_000152.5(GAA):c.1285C>T (p.Gln429Ter)
NM_000152.5(GAA):c.1293_1312del (p.Gln433fs)
NM_000152.5(GAA):c.1298_1301delinsTCCTGCACCATGGC (p.Gln433fs) rs2143858151
NM_000152.5(GAA):c.1308del (p.Arg437fs) rs2143858305
NM_000152.5(GAA):c.1314C>A (p.Tyr438Ter)
NM_000152.5(GAA):c.1336dup (p.Ile446fs) rs2143865725
NM_000152.5(GAA):c.1347_1365dup (p.Arg456fs) rs2039190879
NM_000152.5(GAA):c.1356_1365del (p.Ser454fs)
NM_000152.5(GAA):c.1356del (p.Ser454fs) rs2039191420
NM_000152.5(GAA):c.1364A>G (p.Tyr455Cys)
NM_000152.5(GAA):c.1365del (p.Ser454_Tyr455insTer)
NM_000152.5(GAA):c.1370C>G (p.Pro457Arg)
NM_000152.5(GAA):c.1374_1375delinsTA (p.Asp459Asn) rs2143866239
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn) rs535644999
NM_000152.5(GAA):c.1375G>C (p.Asp459His) rs535644999
NM_000152.5(GAA):c.1376_1377del (p.Asp459fs) rs2143866321
NM_000152.5(GAA):c.1377dup (p.Glu460fs) rs2039192386
NM_000152.5(GAA):c.1388_1405del (p.Arg463_Thr469delinsPro) rs2039192921
NM_000152.5(GAA):c.1396del (p.Val466fs) rs1273392818
NM_000152.5(GAA):c.1396dup (p.Val466fs)
NM_000152.5(GAA):c.1417_1420del (p.Gly473fs)
NM_000152.5(GAA):c.1426_1429delinsGTTGG (p.Leu476fs) rs2039195145
NM_000152.5(GAA):c.1431del (p.Ile477fs) rs1598580364
NM_000152.5(GAA):c.1432G>A (p.Gly478Arg) rs778068209
NM_000152.5(GAA):c.1437+1G>A rs1555600575
NM_000152.5(GAA):c.1437+2T>C rs1598580407
NM_000152.5(GAA):c.1438-1G>C rs147804176
NM_000152.5(GAA):c.1438-1G>T rs147804176
NM_000152.5(GAA):c.1438-2A>G rs1555600730
NM_000152.5(GAA):c.1441T>A (p.Trp481Arg)
NM_000152.5(GAA):c.1443G>A (p.Trp481Ter) rs2143871845
NM_000152.5(GAA):c.1445C>G (p.Pro482Arg) rs2039212985
NM_000152.5(GAA):c.1445C>T (p.Pro482Leu) rs2039212985
NM_000152.5(GAA):c.1464dup (p.Asp489fs) rs2039213824
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn) rs398123169
NM_000152.5(GAA):c.148G>T (p.Glu50Ter) rs1555598609
NM_000152.5(GAA):c.1496G>A (p.Trp499Ter) rs766680292
NM_000152.5(GAA):c.1519dup (p.His507fs) rs2039216097
NM_000152.5(GAA):c.1551+1G>A rs770780848
NM_000152.5(GAA):c.1551+1G>C rs770780848
NM_000152.5(GAA):c.1552-2A>G rs1555600846
NM_000152.5(GAA):c.1555A>G (p.Met519Val) rs1598581919
NM_000152.5(GAA):c.1557G>A (p.Met519Ile) rs1447365901
NM_000152.5(GAA):c.1557_1561dup (p.Glu521fs) rs2143874124
NM_000152.5(GAA):c.1559del (p.Asn520fs) rs2143874154
NM_000152.5(GAA):c.1560del (p.Asn520fs)
NM_000152.5(GAA):c.1561G>C (p.Glu521Gln)
NM_000152.5(GAA):c.1561del (p.Glu521fs)
NM_000152.5(GAA):c.1562A>T (p.Glu521Val) rs1455277014
NM_000152.5(GAA):c.1564C>A (p.Pro522Thr) rs892129065
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala) rs892129065
NM_000152.5(GAA):c.156_157del (p.His53fs)
NM_000152.5(GAA):c.1575dup (p.Ile526fs) rs2143874398
NM_000152.5(GAA):c.1579_1580del (p.Arg527fs) rs1291214871
NM_000152.5(GAA):c.1579del (p.Arg527fs) rs2039222879
NM_000152.5(GAA):c.1585T>C (p.Ser529Pro) rs1598582021
NM_000152.5(GAA):c.1587del (p.Glu530fs)
NM_000152.5(GAA):c.1589del (p.Glu530fs)
NM_000152.5(GAA):c.1637-2A>G rs2143882034
NM_000152.5(GAA):c.1645G>A (p.Gly549Arg)
NM_000152.5(GAA):c.1650del (p.Thr551fs) rs766398206
NM_000152.5(GAA):c.1650dup (p.Thr551fs) rs766398206
NM_000152.5(GAA):c.1651_1656del (p.Thr551_Leu552del)
NM_000152.5(GAA):c.1654del (p.Leu552fs) rs2039246615
NM_000152.5(GAA):c.1657C>T (p.Gln553Ter) rs1221156663
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe) rs747150965
NM_000152.5(GAA):c.1674_1675del (p.Ala559fs) rs2143882664
NM_000152.5(GAA):c.1687C>T (p.Gln563Ter) rs1057516426
NM_000152.5(GAA):c.1692del (p.Leu565fs) rs1555601234
NM_000152.5(GAA):c.1694_1697del (p.Leu565fs)
NM_000152.5(GAA):c.169C>T (p.Gln57Ter) rs1057516251
NM_000152.5(GAA):c.1703A>T (p.His568Leu) rs2143882997
NM_000152.5(GAA):c.1704dup (p.Tyr569fs) rs2143883054
NM_000152.5(GAA):c.1716C>G (p.His572Gln) rs772962666
NM_000152.5(GAA):c.1748C>T (p.Ser583Phe) rs2143883845
NM_000152.5(GAA):c.1754+2T>A
NM_000152.5(GAA):c.1754+2T>C
NM_000152.5(GAA):c.1755-1G>A rs2039261208
NM_000152.5(GAA):c.1761_1765delinsT (p.Val588fs) rs2039261436
NM_000152.5(GAA):c.1781G>A (p.Arg594His) rs775450536
NM_000152.5(GAA):c.1802C>A (p.Ser601Ter) rs374470794
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp) rs374470794
NM_000152.5(GAA):c.1809del (p.Phe603fs) rs2143888280
NM_000152.5(GAA):c.1827C>A (p.Tyr609Ter)
NM_000152.5(GAA):c.1827C>G (p.Tyr609Ter)
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp) rs1057517105
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys) rs369531647
NM_000152.5(GAA):c.1841C>T (p.Thr614Met) rs369531647
NM_000152.5(GAA):c.1844G>A (p.Gly615Glu) rs1243515778
NM_000152.5(GAA):c.1844G>T (p.Gly615Val) rs1243515778
NM_000152.5(GAA):c.1846G>A (p.Asp616Asn) rs796161389
NM_000152.5(GAA):c.1846dup (p.Asp616fs) rs1249187013
NM_000152.5(GAA):c.1847dup (p.Asp616fs) rs1475559733
NM_000152.5(GAA):c.1853G>A (p.Trp618Ter)
NM_000152.5(GAA):c.1855A>C (p.Ser619Arg)
NM_000152.5(GAA):c.1857C>G (p.Ser619Arg) rs914396317
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe) rs1024137874
NM_000152.5(GAA):c.1905C>A (p.Asn635Lys) rs1414146587
NM_000152.5(GAA):c.1913G>T (p.Gly638Val) rs1294428728
NM_000152.5(GAA):c.1930_1936dup (p.Val646fs) rs748829376
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) rs368438393
NM_000152.5(GAA):c.1933G>C (p.Asp645His) rs368438393
NM_000152.5(GAA):c.1933G>T (p.Asp645Tyr) rs368438393
NM_000152.5(GAA):c.1937del (p.Val646fs)
NM_000152.5(GAA):c.1941C>A (p.Cys647Ter) rs776948121
NM_000152.5(GAA):c.1950_1952delinsT (p.Gly651fs)
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs) rs1567835781
NM_000152.5(GAA):c.1975_2000dup (p.Phe667fs)
NM_000152.5(GAA):c.1976_1977del (p.Val659fs) rs2143892473
NM_000152.5(GAA):c.1978C>T (p.Arg660Cys) rs759518659
NM_000152.5(GAA):c.1987C>T (p.Gln663Ter) rs2143892654
NM_000152.5(GAA):c.1987del (p.Gln663fs) rs2143892615
NM_000152.5(GAA):c.199del (p.Asp67fs) rs2143825870
NM_000152.5(GAA):c.1A>G (p.Met1Val) rs786204467
NM_000152.5(GAA):c.1A>T (p.Met1Leu) rs786204467
NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys) rs1555601633
NM_000152.5(GAA):c.2004C>A (p.Tyr668Ter)
NM_000152.5(GAA):c.2021ACA[1] (p.Asn675del) rs786204621
NM_000152.5(GAA):c.2040+1G>C rs1057516928
NM_000152.5(GAA):c.2040+2T>G
NM_000152.5(GAA):c.2066_2070dup (p.Ala691fs) rs398123171
NM_000152.5(GAA):c.2074C>T (p.Gln692Ter) rs2039287628
NM_000152.5(GAA):c.2082del (p.Ala694_Met695insTer) rs2039287852
NM_000152.5(GAA):c.2095dup (p.Leu699fs) rs2143895928
NM_000152.5(GAA):c.2096T>C (p.Leu699Pro)
NM_000152.5(GAA):c.2105G>T (p.Arg702Leu) rs398123172
NM_000152.5(GAA):c.2109C>A (p.Tyr703Ter) rs150728610
NM_000152.5(GAA):c.2109C>G (p.Tyr703Ter)
NM_000152.5(GAA):c.2136_2137del (p.Phe713fs) rs1555601780
NM_000152.5(GAA):c.2140del (p.His714fs) rs786204549
NM_000152.5(GAA):c.2143C>T (p.Gln715Ter) rs1275298143
NM_000152.5(GAA):c.2167G>A (p.Val723Met) rs767247397
NM_000152.5(GAA):c.2173del (p.Arg725fs) rs2039292320
NM_000152.5(GAA):c.2185del (p.Leu729fs) rs1057516581
NM_000152.5(GAA):c.2188G>T (p.Glu730Ter) rs1555601828
NM_000152.5(GAA):c.2213G>A (p.Trp738Ter) rs1057516327
NM_000152.5(GAA):c.2214G>A (p.Trp738Ter) rs1057516328
NM_000152.5(GAA):c.2219_2220del (p.Val740fs) rs2039364779
NM_000152.5(GAA):c.2227C>T (p.Gln743Ter) rs1057516277
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg) rs1479740763
NM_000152.5(GAA):c.2237G>A (p.Trp746Ter) rs752921215
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser) rs752921215
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter) rs1800312
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.2238G>T (p.Trp746Cys)
NM_000152.5(GAA):c.2242dup (p.Glu748fs) rs777275355
NM_000152.5(GAA):c.2269C>T (p.Gln757Ter) rs200483245
NM_000152.5(GAA):c.2281delinsAT (p.Ala761fs) rs1057516924
NM_000152.5(GAA):c.2284G>T (p.Glu762Ter) rs760063214
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser) rs144016984
NM_000152.5(GAA):c.2300del (p.Phe767fs) rs1555602692
NM_000152.5(GAA):c.2313_2322del (p.Trp772fs) rs2143920189
NM_000152.5(GAA):c.2314del (p.Trp772fs)
NM_000152.5(GAA):c.2320dup (p.Asp774fs)
NM_000152.5(GAA):c.2367dup (p.Pro790fs) rs1555602860
NM_000152.5(GAA):c.236_246del (p.Pro79fs) rs1057517165
NM_000152.5(GAA):c.2383G>T (p.Glu795Ter) rs886043882
NM_000152.5(GAA):c.2399G>T (p.Ser800Ile)
NM_000152.5(GAA):c.2408_2426del (p.Gln803fs) rs763048948
NM_000152.5(GAA):c.241C>T (p.Gln81Ter) rs1555598687
NM_000152.5(GAA):c.242del (p.Gln81fs)
NM_000152.5(GAA):c.2431dup (p.Leu811fs) rs2143925402
NM_000152.5(GAA):c.2432del (p.Leu811fs) rs766560578
NM_000152.5(GAA):c.246C>A (p.Cys82Ter) rs749584846
NM_000152.5(GAA):c.2470_2471del (p.Ile824fs) rs2143926009
NM_000152.5(GAA):c.2481+110_2646+39del rs1598592604
NM_000152.5(GAA):c.2495_2496del (p.Thr832fs) rs1057516704
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs) rs886043343
NM_000152.5(GAA):c.2502dup (p.Glu835fs)
NM_000152.5(GAA):c.2554G>T (p.Glu852Ter)
NM_000152.5(GAA):c.2577G>A (p.Trp859Ter)
NM_000152.5(GAA):c.258dup (p.Asn87fs) rs761317813
NM_000152.5(GAA):c.2619C>G (p.Tyr873Ter)
NM_000152.5(GAA):c.2623C>T (p.Gln875Ter) rs2143930800
NM_000152.5(GAA):c.2646+1G>A rs2143931061
NM_000152.5(GAA):c.2646+2T>A rs786204561
NM_000152.5(GAA):c.2646+2T>G
NM_000152.5(GAA):c.2675_2676dup (p.Thr893Ter)
NM_000152.5(GAA):c.2702dup (p.Gln902fs)
NM_000152.5(GAA):c.2704C>T (p.Gln902Ter) rs1057516341
NM_000152.5(GAA):c.2704_2716dup (p.Val906fs) rs1057516189
NM_000152.5(GAA):c.2707_2709del (p.Lys903del) rs121907939
NM_000152.5(GAA):c.2734del (p.Ala912fs)
NM_000152.5(GAA):c.2740C>T (p.Gln914Ter) rs1555603264
NM_000152.5(GAA):c.2741delinsCAG (p.Gln914fs)
NM_000152.5(GAA):c.2743C>T (p.Gln915Ter)
NM_000152.5(GAA):c.276C>A (p.Cys92Ter) rs1232001857
NM_000152.5(GAA):c.2815_2816del (p.Val939fs) rs763359208
NM_000152.5(GAA):c.282del (p.Asp95fs) rs2143826963
NM_000152.5(GAA):c.304C>T (p.Gln102Ter) rs1432841878
NM_000152.5(GAA):c.309C>A (p.Cys103Ter) rs373307393
NM_000152.5(GAA):c.309C>G (p.Cys103Trp) rs373307393
NM_000152.5(GAA):c.322T>A (p.Cys108Ser) rs2039038743
NM_000152.5(GAA):c.340_341insT (p.Lys114fs) rs2143827701
NM_000152.5(GAA):c.342del (p.Lys114fs) rs1555598796
NM_000152.5(GAA):c.355G>T (p.Gly119Ter) rs1555598802
NM_000152.5(GAA):c.361C>T (p.Gln121Ter) rs750668627
NM_000152.5(GAA):c.377G>A (p.Trp126Ter) rs1011631903
NM_000152.5(GAA):c.378G>A (p.Trp126Ter) rs2039041225
NM_000152.5(GAA):c.379_380del (p.Cys127fs) rs1207988953
NM_000152.5(GAA):c.3G>A (p.Met1Ile) rs1187796945
NM_000152.5(GAA):c.424_440del (p.Ser142fs)
NM_000152.5(GAA):c.437del (p.Met146fs) rs1555598869
NM_000152.5(GAA):c.444C>G (p.Tyr148Ter) rs886043112
NM_000152.5(GAA):c.456_457dup (p.Thr153fs) rs2143829023
NM_000152.5(GAA):c.471del (p.Thr158fs) rs1057517320
NM_000152.5(GAA):c.482_483del (p.Pro161fs) rs764750389
NM_000152.5(GAA):c.520_526del (p.Glu174fs)
NM_000152.5(GAA):c.525_526del (p.Asn177fs) rs767882689
NM_000152.5(GAA):c.528_529del (p.Asn177fs) rs2143829649
NM_000152.5(GAA):c.546+5G>T rs756024023
NM_000152.5(GAA):c.546G>C (p.Thr182=) rs143523371
NM_000152.5(GAA):c.546G>T (p.Thr182=) rs143523371
NM_000152.5(GAA):c.547-1G>C rs2143833579
NM_000152.5(GAA):c.569G>A (p.Arg190His) rs528367092
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter) rs376229714
NM_000152.5(GAA):c.584T>A (p.Leu195Ter)
NM_000152.5(GAA):c.587del (p.Glu196fs)
NM_000152.5(GAA):c.639del (p.Ser214fs) rs2143834462
NM_000152.5(GAA):c.643G>T (p.Glu215Ter) rs201286896
NM_000152.5(GAA):c.658dup (p.Val220fs) rs2143834640
NM_000152.5(GAA):c.683dup (p.Arg229fs) rs2143834983
NM_000152.5(GAA):c.692+1G>C rs773281453
NM_000152.5(GAA):c.692+1G>T
NM_000152.5(GAA):c.692+2T>C rs1555599171
NM_000152.5(GAA):c.711_712dup (p.Pro238fs) rs1555599586
NM_000152.5(GAA):c.716del (p.Leu239fs) rs1555599594
NM_000152.5(GAA):c.722_723del (p.Phe241fs) rs2039116471
NM_000152.5(GAA):c.727_728insCCACCAGGACA (p.Asp243fs)
NM_000152.5(GAA):c.736del (p.Leu246fs) rs886043920
NM_000152.5(GAA):c.739C>T (p.Gln247Ter)
NM_000152.5(GAA):c.759del (p.Ser254fs) rs2039117815
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs) rs786204532
NM_000152.5(GAA):c.768dup (p.Ile257fs) rs1555599644
NM_000152.5(GAA):c.796C>T (p.Pro266Ser) rs1555599667
NM_000152.5(GAA):c.799_803delinsA (p.Leu267fs) rs2039120342
NM_000152.5(GAA):c.806_830del (p.Leu269fs) rs1598575231
NM_000152.5(GAA):c.854C>G (p.Pro285Arg) rs764622267
NM_000152.5(GAA):c.856del (p.Thr286fs)
NM_000152.5(GAA):c.889_890insG (p.Phe297fs)
NM_000152.5(GAA):c.896T>C (p.Leu299Pro) rs121907940
NM_000152.5(GAA):c.896T>G (p.Leu299Arg) rs121907940
NM_000152.5(GAA):c.923A>C (p.His308Pro) rs2143849751
NM_000152.5(GAA):c.930del (p.Phe311fs)
NM_000152.5(GAA):c.955+1G>A rs1403691329
NM_000152.5(GAA):c.967C>T (p.Gln323Ter)
NM_000152.5(GAA):c.988_998del (p.Trp330fs)
NM_000152.5(GAA):c.989G>A (p.Trp330Ter) rs1555599960
NM_000182.5(HADHA):c.1002del (p.Glu335fs)
NM_000182.5(HADHA):c.1029C>A (p.Tyr343Ter)
NM_000182.5(HADHA):c.1070del (p.Pro357fs) rs1670051013
NM_000182.5(HADHA):c.1086-3_1092del rs1057516460
NM_000182.5(HADHA):c.1167dup (p.Lys390Ter) rs2147762308
NM_000182.5(HADHA):c.1183dup (p.Thr395fs)
NM_000182.5(HADHA):c.1204C>T (p.Gln402Ter) rs2147762267
NM_000182.5(HADHA):c.1209del (p.Val404fs)
NM_000182.5(HADHA):c.1231_1235del (p.Lys411fs)
NM_000182.5(HADHA):c.1249del (p.Ala416_Leu417insTer)
NM_000182.5(HADHA):c.1261G>T (p.Glu421Ter)
NM_000182.5(HADHA):c.129dup (p.Gly44fs) rs1298883200
NM_000182.5(HADHA):c.1319dup (p.Ala441fs) rs2147759662
NM_000182.5(HADHA):c.1336G>T (p.Glu446Ter)
NM_000182.5(HADHA):c.1361_1364dup (p.Lys455delinsAsnTer)
NM_000182.5(HADHA):c.1432del (p.Ala478fs)
NM_000182.5(HADHA):c.1491_1495dup (p.Tyr499fs) rs2147753741
NM_000182.5(HADHA):c.1523del (p.Leu508fs) rs754145990
NM_000182.5(HADHA):c.1528G>T (p.Glu510Ter) rs137852769
NM_000182.5(HADHA):c.1540del (p.Thr514fs) rs1478391725
NM_000182.5(HADHA):c.1549del (p.Thr517fs)
NM_000182.5(HADHA):c.1554del (p.Asp520fs) rs2147753630
NM_000182.5(HADHA):c.156_157del (p.Arg53fs)
NM_000182.5(HADHA):c.157C>T (p.Arg53Ter) rs147103714
NM_000182.5(HADHA):c.1590del (p.Lys531fs) rs1057516991
NM_000182.5(HADHA):c.160del (p.Ile54fs)
NM_000182.5(HADHA):c.1620+1del rs2147753555
NM_000182.5(HADHA):c.1620+2_1620+6del rs764557236
NM_000182.5(HADHA):c.1644del (p.Arg549fs) rs1267615713
NM_000182.5(HADHA):c.1654dup (p.Ala552fs) rs2147753069
NM_000182.5(HADHA):c.1689+2T>C
NM_000182.5(HADHA):c.1689+2T>G rs1574602991
NM_000182.5(HADHA):c.1690-17_1690-2del rs1669581856
NM_000182.5(HADHA):c.1720_1721del (p.Leu574fs) rs1278248464
NM_000182.5(HADHA):c.1759_1760del (p.Leu587fs)
NM_000182.5(HADHA):c.180+1G>A rs786205088
NM_000182.5(HADHA):c.1811del (p.Gly604fs) rs747985669
NM_000182.5(HADHA):c.1893del (p.Lys631fs)
NM_000182.5(HADHA):c.1915_1918del (p.Tyr639fs) rs1057517397
NM_000182.5(HADHA):c.1917T>A (p.Tyr639Ter)
NM_000182.5(HADHA):c.1921del (p.Glu641fs)
NM_000182.5(HADHA):c.1967del (p.Ile655_Leu656insTer) rs779113356
NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs) rs749848370
NM_000182.5(HADHA):c.1990_1993dup (p.Ser665Ter) rs757671025
NM_000182.5(HADHA):c.2000+1G>A
NM_000182.5(HADHA):c.2000+1G>C rs1167218743
NM_000182.5(HADHA):c.2010del (p.Asp670fs)
NM_000182.5(HADHA):c.2011del (p.Glu671fs)
NM_000182.5(HADHA):c.2020C>T (p.Gln674Ter) rs2147749450
NM_000182.5(HADHA):c.2020dup (p.Gln674fs)
NM_000182.5(HADHA):c.2027G>A (p.Arg676His) rs1204190984
NM_000182.5(HADHA):c.2039_2040dup (p.Phe681fs)
NM_000182.5(HADHA):c.2063_2087dup (p.Glu699fs)
NM_000182.5(HADHA):c.2132dup (p.Pro712fs) rs1574600309
NM_000182.5(HADHA):c.2146+1G>A rs794727219
NM_000182.5(HADHA):c.2167_2168dup (p.Tyr724fs)
NM_000182.5(HADHA):c.2208T>A (p.Tyr736Ter) rs774114061
NM_000182.5(HADHA):c.2225_2228dup (p.Phe744fs) rs868816467
NM_000182.5(HADHA):c.2231del (p.Phe744fs)
NM_000182.5(HADHA):c.238del (p.Trp80fs)
NM_000182.5(HADHA):c.274_278del (p.Ser92fs) rs781205883
NM_000182.5(HADHA):c.294del (p.Phe98fs) rs2147784383
NM_000182.5(HADHA):c.310dup (p.Ile104fs) rs1670773680
NM_000182.5(HADHA):c.315-2A>T
NM_000182.5(HADHA):c.340C>T (p.Gln114Ter) rs1670695733
NM_000182.5(HADHA):c.352_353del (p.Gln118fs) rs1670695370
NM_000182.5(HADHA):c.387_388del (p.Lys129fs) rs780350631
NM_000182.5(HADHA):c.469C>T (p.Gln157Ter)
NM_000182.5(HADHA):c.556C>T (p.Gln186Ter) rs2147781182
NM_000182.5(HADHA):c.612dup (p.Arg205Ter) rs1574623071
NM_000182.5(HADHA):c.637_638del (p.Lys213fs)
NM_000182.5(HADHA):c.676+1G>A rs1670587668
NM_000182.5(HADHA):c.690del (p.Lys230fs) rs2147769993
NM_000182.5(HADHA):c.6_24dup (p.Ile9fs) rs1456890163
NM_000182.5(HADHA):c.703C>T (p.Arg235Trp) rs786204607
NM_000182.5(HADHA):c.703_704dup (p.Thr236fs)
NM_000182.5(HADHA):c.70dup (p.Tyr24fs)
NM_000182.5(HADHA):c.72del (p.Gly23_Tyr24insTer) rs1553316176
NM_000182.5(HADHA):c.761_764del (p.Lys254fs)
NM_000182.5(HADHA):c.841C>T (p.Gln281Ter)
NM_000182.5(HADHA):c.844_845insA (p.Val282fs) rs774235292
NM_000182.5(HADHA):c.871C>T (p.Arg291Ter) rs137852775
NM_000182.5(HADHA):c.878dup (p.Thr294fs)
NM_000182.5(HADHA):c.893del (p.Tyr298fs)
NM_000182.5(HADHA):c.914T>A (p.Ile305Asn) rs137852774
NM_000182.5(HADHA):c.930_931del (p.Gly311fs)
NM_000182.5(HADHA):c.944_956del (p.Gly315fs)
NM_000182.5(HADHA):c.966_967del (p.Cys322_Glu323delinsTer) rs2147768516
NM_000231.3(SGCG):c.105T>A (p.Cys35Ter) rs760108586
NM_000231.3(SGCG):c.128T>A (p.Leu43Ter) rs2137501447
NM_000231.3(SGCG):c.167G>A (p.Trp56Ter) rs1351510337
NM_000231.3(SGCG):c.174_175insTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACAATTTGGATTCTT (p.Lys59delinsPhePhePhePhePhePheXaaXaaXaaXaaValSerGlnAspGlyLeuAspLeuLeuThrSerTer) rs2137501542
NM_000231.3(SGCG):c.195+4_195+7del rs797045106
NM_000231.3(SGCG):c.205G>C (p.Gly69Arg)
NM_000231.3(SGCG):c.216T>A (p.Cys72Ter)
NM_000231.3(SGCG):c.241_297+1169del
NM_000231.3(SGCG):c.260T>G (p.Leu87Ter)
NM_000231.3(SGCG):c.298-1G>A rs79500874
NM_000231.3(SGCG):c.298-2A>G
NM_000231.3(SGCG):c.361del (p.Glu121fs) rs1879928532
NM_000231.3(SGCG):c.452_458del (p.Leu150_Phe151insTer) rs886042540
NM_000231.3(SGCG):c.496C>T (p.Arg166Ter) rs1881219252
NM_000231.3(SGCG):c.511G>T (p.Glu171Ter) rs1881865054
NM_000231.3(SGCG):c.524_527del (p.Phe175fs) rs2137644682
NM_000231.3(SGCG):c.525del (p.Phe175fs) rs786204786
NM_000231.3(SGCG):c.528_534del (p.His177fs)
NM_000231.3(SGCG):c.533C>G (p.Ser178Ter) rs1011397929
NM_000231.3(SGCG):c.533del (p.His177_Ser178insTer) rs1180551378
NM_000231.3(SGCG):c.549dup (p.Val184fs) rs2137644772
NM_000231.3(SGCG):c.581T>G (p.Leu194Ter) rs547818652
NM_000231.3(SGCG):c.599del (p.Ser200fs) rs886043860
NM_000231.3(SGCG):c.648_649insC (p.Lys217fs) rs2137528211
NM_000231.3(SGCG):c.649A>T (p.Lys217Ter) rs1325816562
NM_000231.3(SGCG):c.66T>A (p.Tyr22Ter) rs376410504
NM_000231.3(SGCG):c.673_674insTATTCTTTTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC (p.Asp225delinsValPhePhePhePhePhePhePhePhePheXaaXaaXaaXaaAspGlyValSerProCysTer) rs2137528297
NM_000231.3(SGCG):c.699_702del (p.Met234fs) rs2137528349
NM_000231.3(SGCG):c.727_728del (p.Cys243fs) rs758078849
NM_000231.3(SGCG):c.730_732delinsAGCAT (p.Leu244fs) rs1883154291
NM_000231.3(SGCG):c.735del (p.Lys246fs)
NM_000231.3(SGCG):c.768del (p.Ser257fs) rs1199421806
NM_000231.3(SGCG):c.775_776del (p.Gln259fs) rs2137534154
NM_000231.3(SGCG):c.800_801del (p.Cys267fs) rs780348174
NM_000231.3(SGCG):c.824_827del (p.Ser275fs) rs1361450354
NM_000231.3(SGCG):c.82del (p.Ile28fs)
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr) rs104894422
NM_000231.3(SGCG):c.87T>A (p.Tyr29Ter) rs1196026821
NM_000231.3(SGCG):c.89del (p.Gly30fs)
NM_000232.5(SGCB):c.-10_13del (p.Met1fs) rs2109380910
NM_000232.5(SGCB):c.-10_19dup (p.Ala7fs)
NM_000232.5(SGCB):c.-10_22dup (p.Ala8fs) rs1553940963
NM_000232.5(SGCB):c.-12_23dup (p.Ala9fs)
NM_000232.5(SGCB):c.-12_8dup (p.Ala4fs) rs1207685911
NM_000232.5(SGCB):c.-15_8dup (p.Ala5fs)
NM_000232.5(SGCB):c.-18_8dup (p.Ala6fs) rs2109380938
NM_000232.5(SGCB):c.-8_8dup (p.Ala4fs)
NM_000232.5(SGCB):c.132C>G (p.Tyr44Ter) rs1737305761
NM_000232.5(SGCB):c.165_166del (p.Gly56fs)
NM_000232.5(SGCB):c.253_254del (p.Val85fs) rs1553940274
NM_000232.5(SGCB):c.255dup (p.Ile86fs) rs2109372084
NM_000232.5(SGCB):c.261G>A (p.Trp87Ter) rs2109372060
NM_000232.5(SGCB):c.28G>T (p.Glu10Ter) rs1448040082
NM_000232.5(SGCB):c.2T>C (p.Met1Thr) rs1737457235
NM_000232.5(SGCB):c.30del (p.Glu10fs) rs2109380824
NM_000232.5(SGCB):c.325C>T (p.Arg109Ter) rs750773622
NM_000232.5(SGCB):c.32dup (p.Gln12fs) rs796065319
NM_000232.5(SGCB):c.34-1G>A rs1484409119
NM_000232.5(SGCB):c.366_367del (p.Leu122_Tyr123insTer) rs1578126090
NM_000232.5(SGCB):c.373dup (p.Ser125fs) rs2109371877
NM_000232.5(SGCB):c.377_384dup (p.Gly129delinsGlnTer) rs751427729
NM_000232.5(SGCB):c.37del (p.Ser13fs)
NM_000232.5(SGCB):c.391C>T (p.Arg131Ter) rs1013015106
NM_000232.5(SGCB):c.433del (p.Val145fs)
NM_000232.5(SGCB):c.460_482del (p.Ser154fs)
NM_000232.5(SGCB):c.466_467del (p.Glu156fs) rs1578125670
NM_000232.5(SGCB):c.494del (p.Asp165fs)
NM_000232.5(SGCB):c.539dup (p.Ser181fs) rs1737176330
NM_000232.5(SGCB):c.543_547del (p.Ser181fs)
NM_000232.5(SGCB):c.544A>G (p.Thr182Ala)
NM_000232.5(SGCB):c.551_552del (p.Asp183_Tyr184insTer) rs1057517051
NM_000232.5(SGCB):c.552T>G (p.Tyr184Ter) rs104893868
NM_000232.5(SGCB):c.558_568del (p.His187fs)
NM_000232.5(SGCB):c.567dup (p.His190fs) rs1263020044
NM_000232.5(SGCB):c.579dup (p.Gly194fs) rs2109370922
NM_000232.5(SGCB):c.583dup (p.Val195fs)
NM_000232.5(SGCB):c.595_598del (p.Asn199fs) rs762114570
NM_000232.5(SGCB):c.621+1G>A rs1264362642
NM_000232.5(SGCB):c.622-1G>T
NM_000232.5(SGCB):c.656_657del (p.Lys219fs) rs775458201
NM_000232.5(SGCB):c.661_662insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGTTG (p.Val220_Asp221insGlyProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerXaaXaaXaaLysLysLysLysLysLysLysLysVal)
NM_000232.5(SGCB):c.708_709insTTTTCATTATGGGC (p.Lys237fs)
NM_000232.5(SGCB):c.735_736del (p.Asn246fs) rs2109369924
NM_000232.5(SGCB):c.82G>T (p.Glu28Ter) rs771814273
NM_000232.5(SGCB):c.82_86del (p.Glu28fs) rs1553940687
NM_000232.5(SGCB):c.85dup (p.Arg29fs) rs2109376054
NM_000256.3(MYBPC3):c.1000G>T (p.Glu334Ter) rs573916965
NM_000256.3(MYBPC3):c.1015C>T (p.Gln339Ter) rs730880631
NM_000256.3(MYBPC3):c.1020del (p.Gln339_Tyr340insTer)
NM_000256.3(MYBPC3):c.1028del (p.Thr343fs) rs730880686
NM_000256.3(MYBPC3):c.1038_1042dup (p.Met348fs) rs730880336
NM_000256.3(MYBPC3):c.1048_1049del (p.Lys350fs) rs2142864164
NM_000256.3(MYBPC3):c.1058del (p.Lys353fs)
NM_000256.3(MYBPC3):c.1084dup (p.Ser362fs) rs730880723
NM_000256.3(MYBPC3):c.1090+1G>A rs727504269
NM_000256.3(MYBPC3):c.1090+1G>C
NM_000256.3(MYBPC3):c.1090+1G>T rs727504269
NM_000256.3(MYBPC3):c.1090G>A (p.Ala364Thr) rs794727046
NM_000256.3(MYBPC3):c.1091-?_2308+?del
NM_000256.3(MYBPC3):c.1096C>T (p.Gln366Ter)
NM_000256.3(MYBPC3):c.1116dup (p.Tyr373fs)
NM_000256.3(MYBPC3):c.1119C>G (p.Tyr373Ter) rs2095891411
NM_000256.3(MYBPC3):c.1120C>T (p.Gln374Ter) rs730880635
NM_000256.3(MYBPC3):c.1128del (p.Ser376fs) rs2095891398
NM_000256.3(MYBPC3):c.112_115del (p.Val38fs) rs2142869736
NM_000256.3(MYBPC3):c.1153_1168del (p.Val385fs) rs869025465
NM_000256.3(MYBPC3):c.1162dup (p.Ala388fs) rs730880724
NM_000256.3(MYBPC3):c.1174del (p.Ala392fs) rs1565628486
NM_000256.3(MYBPC3):c.1183A>T (p.Lys395Ter) rs1233894123
NM_000256.3(MYBPC3):c.1194del (p.Asn399fs) rs2142862199
NM_000256.3(MYBPC3):c.1210C>T (p.Gln404Ter) rs727504329
NM_000256.3(MYBPC3):c.1223+1G>T rs730880639
NM_000256.3(MYBPC3):c.1223+2T>C rs730880641
NM_000256.3(MYBPC3):c.1223+2T>G rs730880641
NM_000256.3(MYBPC3):c.1224-2A>G rs397515891
NM_000256.3(MYBPC3):c.1235_1236del (p.Ile411_Phe412insTer) rs397515894
NM_000256.3(MYBPC3):c.1236dup (p.Glu413Ter) rs397515894
NM_000256.3(MYBPC3):c.124_127del (p.Trp42fs) rs730880659
NM_000256.3(MYBPC3):c.1269_1282del (p.Ser424fs) rs2142861729
NM_000256.3(MYBPC3):c.1273C>T (p.Gln425Ter) rs397515895
NM_000256.3(MYBPC3):c.1277_1298del (p.Cys426fs)
NM_000256.3(MYBPC3):c.1278C>A (p.Cys426Ter) rs746770543
NM_000256.3(MYBPC3):c.1303C>T (p.Gln435Ter) rs1432810664
NM_000256.3(MYBPC3):c.1310del (p.Val437fs) rs397515896
NM_000256.3(MYBPC3):c.1319_1328del (p.Gly440fs) rs1595846475
NM_000256.3(MYBPC3):c.1330del (p.Ser444fs) rs727505152
NM_000256.3(MYBPC3):c.1351+1G>A rs727503204
NM_000256.3(MYBPC3):c.1351+2T>C rs397515897
NM_000256.3(MYBPC3):c.1351G>C (p.Glu451Gln) rs786204338
NM_000256.3(MYBPC3):c.1351G>T (p.Glu451Ter) rs786204338
NM_000256.3(MYBPC3):c.1353del (p.Glu451fs) rs2142861512
NM_000256.3(MYBPC3):c.1357_1358del (p.Pro453fs) rs727503203
NM_000256.3(MYBPC3):c.1359del (p.Val454fs) rs863225271
NM_000256.3(MYBPC3):c.1364_1374del (p.Leu455fs) rs2142861454
NM_000256.3(MYBPC3):c.1364del (p.Leu455fs)
NM_000256.3(MYBPC3):c.1377del (p.Leu460fs) rs786204339
NM_000256.3(MYBPC3):c.1378_1379dup (p.Leu460fs)
NM_000256.3(MYBPC3):c.1387C>T (p.Gln463Ter) rs730880538
NM_000256.3(MYBPC3):c.1408C>T (p.Arg470Trp) rs1595846365
NM_000256.3(MYBPC3):c.1420G>T (p.Glu474Ter) rs1415753419
NM_000256.3(MYBPC3):c.1422del (p.Glu474fs) rs1565628062
NM_000256.3(MYBPC3):c.1440_1441delinsC (p.Glu480fs) rs1595846344
NM_000256.3(MYBPC3):c.1444dup (p.Ala482fs) rs876657703
NM_000256.3(MYBPC3):c.1447C>T (p.Gln483Ter) rs730880541
NM_000256.3(MYBPC3):c.1457G>A (p.Trp486Ter) rs730880542
NM_000256.3(MYBPC3):c.1458-1G>A rs397515903
NM_000256.3(MYBPC3):c.1458-1G>T rs397515903
NM_000256.3(MYBPC3):c.1460_1624+67del
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly) rs397515905
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp) rs397515905
NM_000256.3(MYBPC3):c.1504del (p.Arg502fs) rs1555122188
NM_000256.3(MYBPC3):c.1522C>T (p.Gln508Ter) rs730880544
NM_000256.3(MYBPC3):c.1546G>T (p.Glu516Ter) rs730880545
NM_000256.3(MYBPC3):c.1569del (p.His524fs) rs2095889902
NM_000256.3(MYBPC3):c.1570_1594del (p.His524fs) rs1555122156
NM_000256.3(MYBPC3):c.1574_1580del (p.Tyr525fs) rs2142860924
NM_000256.3(MYBPC3):c.1575T>A (p.Tyr525Ter) rs397515910
NM_000256.3(MYBPC3):c.1575T>G (p.Tyr525Ter) rs397515910
NM_000256.3(MYBPC3):c.1595del (p.Gly532fs) rs730880640
NM_000256.3(MYBPC3):c.1609G>T (p.Glu537Ter) rs2142860830
NM_000256.3(MYBPC3):c.1615_1616insCCTCA (p.Ile539fs) rs2095889815
NM_000256.3(MYBPC3):c.1624+1G>A rs1252584025
NM_000256.3(MYBPC3):c.1624+1G>C rs1252584025
NM_000256.3(MYBPC3):c.1624+1G>T rs1252584025
NM_000256.3(MYBPC3):c.1624+2T>C rs111437311
NM_000256.3(MYBPC3):c.1624G>T (p.Glu542Ter) rs121909374
NM_000256.3(MYBPC3):c.1628del (p.Lys543fs) rs727504248
NM_000256.3(MYBPC3):c.162del (p.Lys54fs) rs864622224
NM_000256.3(MYBPC3):c.1633_1640del (p.Leu545fs) rs878853831
NM_000256.3(MYBPC3):c.1641_1642del (p.Tyr548fs) rs398123279
NM_000256.3(MYBPC3):c.1644C>G (p.Tyr548Ter) rs1565627615
NM_000256.3(MYBPC3):c.165C>G (p.Tyr55Ter)
NM_000256.3(MYBPC3):c.1666del (p.Val556fs)
NM_000256.3(MYBPC3):c.1699G>T (p.Glu567Ter)
NM_000256.3(MYBPC3):c.1700_1701del (p.Glu567fs) rs727503197
NM_000256.3(MYBPC3):c.1724del (p.Gly575fs)
NM_000256.3(MYBPC3):c.1729_1730del (p.Trp577fs) rs1565627536
NM_000256.3(MYBPC3):c.1730G>A (p.Trp577Ter) rs2095889156
NM_000256.3(MYBPC3):c.1731G>A (p.Trp577Ter) rs730880546
NM_000256.3(MYBPC3):c.1734del (p.Lys579fs) rs730880646
NM_000256.3(MYBPC3):c.1755del (p.Asp587fs) rs1595845888
NM_000256.3(MYBPC3):c.1775dup (p.Ser593fs)
NM_000256.3(MYBPC3):c.1776_1777del (p.Ser593fs) rs730880713
NM_000256.3(MYBPC3):c.1777del (p.Ser593fs)
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs) rs397515925
NM_000256.3(MYBPC3):c.178G>T (p.Glu60Ter) rs1410935154
NM_000256.3(MYBPC3):c.1790+1G>A rs1555122053
NM_000256.3(MYBPC3):c.1790+1G>C
NM_000256.3(MYBPC3):c.1792delG rs730880647
NM_000256.3(MYBPC3):c.1800del (p.Lys600fs) rs397515926
NM_000256.3(MYBPC3):c.1808_1821del (p.Ile603fs)
NM_000256.3(MYBPC3):c.1816_1842del (p.Val606_Tyr614del) rs1595845565
NM_000256.3(MYBPC3):c.1821_1822del (p.Pro608fs) rs2142859359
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn) rs371564200
NM_000256.3(MYBPC3):c.182del (p.Gly61fs) rs730880663
NM_000256.3(MYBPC3):c.1831G>T (p.Glu611Ter) rs730880555
NM_000256.3(MYBPC3):c.1839del (p.Tyr614fs) rs2142859289
NM_000256.3(MYBPC3):c.1842del (p.Asp613_Tyr614insTer)
NM_000256.3(MYBPC3):c.1869C>A (p.Cys623Ter) rs397515932
NM_000256.3(MYBPC3):c.1895del (p.Met632fs) rs397515934
NM_000256.3(MYBPC3):c.1897+1G>A rs397515935
NM_000256.3(MYBPC3):c.1898-1G>A rs730880558
NM_000256.3(MYBPC3):c.1900del (p.Val634fs) rs2142859074
NM_000256.3(MYBPC3):c.1903A>T (p.Lys635Ter) rs2142859071
NM_000256.3(MYBPC3):c.1922_1923del (p.Arg641fs) rs2095887873
NM_000256.3(MYBPC3):c.1924C>T (p.Gln642Ter) rs727504293
NM_000256.3(MYBPC3):c.1928-2A>G rs397515937
NM_000256.3(MYBPC3):c.1950del (p.Cys651fs)
NM_000256.3(MYBPC3):c.1953C>A (p.Cys651Ter) rs936188645
NM_000256.3(MYBPC3):c.1960dup (p.Arg654fs)
NM_000256.3(MYBPC3):c.1999_2000delinsG (p.Leu667fs) rs727503192
NM_000256.3(MYBPC3):c.2003dup (p.Leu669fs) rs1565626409
NM_000256.3(MYBPC3):c.2013_2016delinsGG (p.Pro672fs) rs397515943
NM_000256.3(MYBPC3):c.2047del (p.Trp683fs)
NM_000256.3(MYBPC3):c.2048G>A (p.Trp683Ter) rs397515942
NM_000256.3(MYBPC3):c.2063del (p.Thr688fs)
NM_000256.3(MYBPC3):c.2065C>T (p.Gln689Ter) rs863224483
NM_000256.3(MYBPC3):c.2067+1G>A rs1444727212
NM_000256.3(MYBPC3):c.2071_2072del (p.Gly690_Asn691insTer) rs2142857362
NM_000256.3(MYBPC3):c.2096del (p.Pro699fs) rs397515947
NM_000256.3(MYBPC3):c.2113dup (p.Thr705fs) rs397515948
NM_000256.3(MYBPC3):c.2130del (p.Glu710fs)
NM_000256.3(MYBPC3):c.2149-1G>A rs727504334
NM_000256.3(MYBPC3):c.2149-2del rs1555121488
NM_000256.3(MYBPC3):c.214_215dup (p.Pro73fs) rs730880362
NM_000256.3(MYBPC3):c.2164G>T (p.Glu722Ter) rs730880696
NM_000256.3(MYBPC3):c.2182G>T (p.Glu728Ter) rs397515954
NM_000256.3(MYBPC3):c.218del (p.Pro73fs)
NM_000256.3(MYBPC3):c.2195del (p.Asp732fs)
NM_000256.3(MYBPC3):c.221C>TT rs1555123743
NM_000256.3(MYBPC3):c.2221dup (p.Ala741fs) rs730880650
NM_000256.3(MYBPC3):c.2230_2233del (p.Glu744fs)
NM_000256.3(MYBPC3):c.2236G>T (p.Glu746Ter)
NM_000256.3(MYBPC3):c.2240_2245delinsCCTTC (p.Gly747fs) rs2095884984
NM_000256.3(MYBPC3):c.2265C>A (p.Asn755Lys) rs1060501474
NM_000256.3(MYBPC3):c.2267del (p.Pro756fs) rs730880651
NM_000256.3(MYBPC3):c.2279del (p.Asp760fs) rs1060501478
NM_000256.3(MYBPC3):c.2281del (p.Gln761fs)
NM_000256.3(MYBPC3):c.2306_2309dup (p.Val771fs) rs1565625777
NM_000256.3(MYBPC3):c.2308+1G>A rs112738974
NM_000256.3(MYBPC3):c.2308+1G>T rs112738974
NM_000256.3(MYBPC3):c.2309-2A>G rs111729952
NM_000256.3(MYBPC3):c.2334del (p.Lys779fs) rs1057518030
NM_000256.3(MYBPC3):c.2334dup (p.Lys779fs) rs1057518030
NM_000256.3(MYBPC3):c.2371C>T (p.Gln791Ter) rs863225106
NM_000256.3(MYBPC3):c.2376G>A (p.Trp792Ter) rs863225112
NM_000256.3(MYBPC3):c.2377dup (p.Glu793fs) rs1565625473
NM_000256.3(MYBPC3):c.237C>A (p.Tyr79Ter) rs730880698
NM_000256.3(MYBPC3):c.237del (p.Ser78_Tyr79insTer) rs730880664
NM_000256.3(MYBPC3):c.2382del (p.Pro795fs) rs730880714
NM_000256.3(MYBPC3):c.2391C>A (p.Tyr797Ter) rs727504864
NM_000256.3(MYBPC3):c.2394dup (p.Gly799fs) rs730880341
NM_000256.3(MYBPC3):c.2413+1G>A rs1595843828
NM_000256.3(MYBPC3):c.2416dup (p.Tyr806fs)
NM_000256.3(MYBPC3):c.2436_2437delinsTT (p.Lys812_Lys813delinsAsnTer)
NM_000256.3(MYBPC3):c.2438del (p.Lys813fs) rs1595843758
NM_000256.3(MYBPC3):c.2453G>A (p.Trp818Ter) rs1419032418
NM_000256.3(MYBPC3):c.2454G>A (p.Trp818Ter) rs397515965
NM_000256.3(MYBPC3):c.2455_2459del (p.Met819fs) rs730880652
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp) rs775404728
NM_000256.3(MYBPC3):c.2460del (p.Arg820_Leu821insTer)
NM_000256.3(MYBPC3):c.2469del (p.Phe823fs)
NM_000256.3(MYBPC3):c.2494G>T (p.Glu832Ter) rs2142855351
NM_000256.3(MYBPC3):c.25+1G>A rs113709679
NM_000256.3(MYBPC3):c.25+1G>C
NM_000256.3(MYBPC3):c.2500_2501del (p.Arg834fs)
NM_000256.3(MYBPC3):c.2510_2513del (p.Ile837fs) rs2095883508
NM_000256.3(MYBPC3):c.2511del (p.Ile837fs) rs730880653
NM_000256.3(MYBPC3):c.2512G>T (p.Glu838Ter) rs397515969
NM_000256.3(MYBPC3):c.2512dup (p.Glu838fs) rs1219930764
NM_000256.3(MYBPC3):c.2524dup (p.Tyr842fs) rs397515970
NM_000256.3(MYBPC3):c.2526C>A (p.Tyr842Ter) rs373792537
NM_000256.3(MYBPC3):c.2526C>G (p.Tyr842Ter) rs373792537
NM_000256.3(MYBPC3):c.2526del (p.Val841_Tyr842insTer) rs1595843640
NM_000256.3(MYBPC3):c.252_262del (p.Ser85fs) rs2095900581
NM_000256.3(MYBPC3):c.2532_2538del (p.Met844fs) rs730880654
NM_000256.3(MYBPC3):c.2534_2538del (p.Arg845fs) rs397515973
NM_000256.3(MYBPC3):c.2541C>A (p.Tyr847Ter) rs397515974
NM_000256.3(MYBPC3):c.2541C>G (p.Tyr847Ter) rs397515974
NM_000256.3(MYBPC3):c.2545_2550delinsTCAT (p.Val849fs)
NM_000256.3(MYBPC3):c.2550del (p.Asn850fs) rs863225105
NM_000256.3(MYBPC3):c.2556_2557delinsTCT (p.Gly853fs) rs397515975
NM_000256.3(MYBPC3):c.2556del (p.Ile852fs) rs727503186
NM_000256.3(MYBPC3):c.2558del (p.Gly853fs) rs397515977
NM_000256.3(MYBPC3):c.2560_2570del (p.Met854fs) rs2095883336
NM_000256.3(MYBPC3):c.2568del (p.Arg856fs) rs1555121172
NM_000256.3(MYBPC3):c.256del (p.Ser86fs)
NM_000256.3(MYBPC3):c.2572_2573insAA (p.Ser858fs) rs1060501481
NM_000256.3(MYBPC3):c.2572_2576dup (p.Ser861fs) rs1595843549
NM_000256.3(MYBPC3):c.2578_2590dup (p.Phe864fs) rs2142855105
NM_000256.3(MYBPC3):c.257_259delinsGGAGG (p.Ser86fs) rs1064792936
NM_000256.3(MYBPC3):c.2584C>T (p.Gln862Ter)
NM_000256.3(MYBPC3):c.2604_2607del (p.Pro870fs)
NM_000256.3(MYBPC3):c.2604del (p.Ser871fs) rs730880655
NM_000256.3(MYBPC3):c.2610del (p.Ser871fs) rs397515979
NM_000256.3(MYBPC3):c.2639_2642dup (p.Ser882fs)
NM_000256.3(MYBPC3):c.2645_2646del (p.Val881_Ser882insTer)
NM_000256.3(MYBPC3):c.2648_2673dup (p.Pro892fs) rs1555120937
NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter) rs397515982
NM_000256.3(MYBPC3):c.2709_2719del (p.Tyr904fs) rs730880657
NM_000256.3(MYBPC3):c.2719G>T (p.Glu907Ter) rs1555120920
NM_000256.3(MYBPC3):c.2727C>A (p.Cys909Ter) rs886038822
NM_000256.3(MYBPC3):c.2729del (p.Pro910fs)
NM_000256.3(MYBPC3):c.2738-2A>G
NM_000256.3(MYBPC3):c.2739del (p.Ser914fs) rs730880660
NM_000256.3(MYBPC3):c.2747G>A (p.Trp916Ter) rs727504349
NM_000256.3(MYBPC3):c.2748G>A (p.Trp916Ter) rs730880576
NM_000256.3(MYBPC3):c.275_276del (p.Leu92fs) rs1057517766
NM_000256.3(MYBPC3):c.2761C>T (p.Gln921Ter) rs367729718
NM_000256.3(MYBPC3):c.2767del (p.Gly922_Leu923insTer) rs2142853009
NM_000256.3(MYBPC3):c.2770_2857dup (p.Gly953fs)
NM_000256.3(MYBPC3):c.2774_2775del (p.Glu925fs)
NM_000256.3(MYBPC3):c.2780_2781del (p.Thr927fs) rs727504265
NM_000256.3(MYBPC3):c.2789del (p.Leu930fs) rs876657705
NM_000256.3(MYBPC3):c.2801dup (p.Pro935fs)
NM_000256.3(MYBPC3):c.2812del (p.Ala938fs) rs2142852944
NM_000256.3(MYBPC3):c.2825_2826delinsAA (p.Phe942Ter)
NM_000256.3(MYBPC3):c.2833_2834del (p.Arg945fs) rs397515987
NM_000256.3(MYBPC3):c.2846dup (p.Met949fs) rs786204352
NM_000256.3(MYBPC3):c.2857_2858insCAGGGGCTGACAGAGCACACATCGATACTGGTGAAGGACCTGCCCACGGGGGCCCGGCTGCTTTTCCGAGTGCGGGCACACAATATGGCAGGGCCTGG (p.Gly953fs) rs2142852868
NM_000256.3(MYBPC3):c.2868dup (p.Thr957fs) rs1565624090
NM_000256.3(MYBPC3):c.2875_2876del (p.Thr959fs) rs727503182
NM_000256.3(MYBPC3):c.2893C>T (p.Gln965Ter) rs730880578
NM_000256.3(MYBPC3):c.2905+1G>A rs397515991
NM_000256.3(MYBPC3):c.2905+2T>A rs2095880858
NM_000256.3(MYBPC3):c.2905+2T>C
NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter) rs397515992
NM_000256.3(MYBPC3):c.292G>T (p.Glu98Ter) rs868819340
NM_000256.3(MYBPC3):c.2936_2939del (p.Leu979fs)
NM_000256.3(MYBPC3):c.2943_2947del (p.Gln981fs) rs397515995
NM_000256.3(MYBPC3):c.2948_2951del (p.Ile983fs)
NM_000256.3(MYBPC3):c.2950C>T (p.Gln984Ter) rs1555120651
NM_000256.3(MYBPC3):c.2953A>T (p.Lys985Ter) rs727504423
NM_000256.3(MYBPC3):c.2980del (p.Leu994fs) rs2142851880
NM_000256.3(MYBPC3):c.2981del (p.Leu994fs)
NM_000256.3(MYBPC3):c.298dup (p.Ala100fs)
NM_000256.3(MYBPC3):c.2992C>T (p.Gln998Ter) rs11570112
NM_000256.3(MYBPC3):c.2995-1G>A rs730880584
NM_000256.3(MYBPC3):c.299_308del (p.Ala100fs) rs1565631430
NM_000256.3(MYBPC3):c.3009_3010del (p.Gln1004fs) rs2095879705
NM_000256.3(MYBPC3):c.3034C>T (p.Gln1012Ter) rs730880586
NM_000256.3(MYBPC3):c.3040del (p.Leu1014fs) rs397515997
NM_000256.3(MYBPC3):c.305_308dup (p.Met103fs) rs1555123633
NM_000256.3(MYBPC3):c.3079G>AA rs730880666
NM_000256.3(MYBPC3):c.309_321dup (p.Pro108fs) rs2095899755
NM_000256.3(MYBPC3):c.3100del (p.Ala1034fs) rs1060501475
NM_000256.3(MYBPC3):c.310del (p.Leu104fs) rs1565631428
NM_000256.3(MYBPC3):c.3124_3125insAA (p.Thr1042fs) rs1064793202
NM_000256.3(MYBPC3):c.3124del (p.Thr1042fs) rs2142851443
NM_000256.3(MYBPC3):c.3127dup (p.Tyr1043fs)
NM_000256.3(MYBPC3):c.3129C>A (p.Tyr1043Ter) rs573821685
NM_000256.3(MYBPC3):c.3129C>G (p.Tyr1043Ter) rs573821685
NM_000256.3(MYBPC3):c.313_334dup (p.Glu112delinsGlyProCysProCysProCysTer)
NM_000256.3(MYBPC3):c.313del (p.Ala105fs) rs1565631424
NM_000256.3(MYBPC3):c.3163A>T (p.Lys1055Ter) rs869025461
NM_000256.3(MYBPC3):c.3166dup (p.Ala1056fs) rs727503174
NM_000256.3(MYBPC3):c.317del (p.Pro106fs) rs1555123629
NM_000256.3(MYBPC3):c.318del (p.Ala107fs) rs2142868794
NM_000256.3(MYBPC3):c.3190+1del rs2142851321
NM_000256.3(MYBPC3):c.3192dup (p.Lys1065fs) rs397516007
NM_000256.3(MYBPC3):c.3211del (p.Asp1071fs)
NM_000256.3(MYBPC3):c.3215_3216insG (p.Arg1073fs) rs2142851045
NM_000256.3(MYBPC3):c.3217dup (p.Arg1073fs) rs730880668
NM_000256.3(MYBPC3):c.3228_3229insT (p.Ala1077fs) rs1555120529
NM_000256.3(MYBPC3):c.3231dup (p.Trp1078fs) rs2142850980
NM_000256.3(MYBPC3):c.3233G>A (p.Trp1078Ter) rs397516006
NM_000256.3(MYBPC3):c.3234G>A (p.Trp1078Ter) rs866966651
NM_000256.3(MYBPC3):c.3242dup (p.Asn1081fs)
NM_000256.3(MYBPC3):c.324del (p.Ala109fs) rs730880721
NM_000256.3(MYBPC3):c.3258G>A (p.Trp1086Ter) rs1595841552
NM_000256.3(MYBPC3):c.3288del (p.Glu1096fs) rs727503172
NM_000256.3(MYBPC3):c.3293G>A (p.Trp1098Ter) rs397516013
NM_000256.3(MYBPC3):c.3294G>A (p.Trp1098Ter) rs767039057
NM_000256.3(MYBPC3):c.3297dup (p.Tyr1100fs) rs397516014
NM_000256.3(MYBPC3):c.329del (p.Pro110fs)
NM_000256.3(MYBPC3):c.3300C>A (p.Tyr1100Ter) rs863225113
NM_000256.3(MYBPC3):c.3302_3308del (p.Thr1101fs) rs2142850807
NM_000256.3(MYBPC3):c.3309_3328del (p.Gln1103fs) rs2142850741
NM_000256.3(MYBPC3):c.3321dup (p.Lys1108fs) rs730880672
NM_000256.3(MYBPC3):c.3328del (p.Met1110fs) rs2142850736
NM_000256.3(MYBPC3):c.3330+1G>T rs1298025872
NM_000256.3(MYBPC3):c.3330+2T>C rs387906397
NM_000256.3(MYBPC3):c.3330+5G>A rs373746463
NM_000256.3(MYBPC3):c.3330+5G>C rs373746463
NM_000256.3(MYBPC3):c.3330+5G>T rs373746463
NM_000256.3(MYBPC3):c.3332_3335dup (p.Trp1112Ter) rs730880337
NM_000256.3(MYBPC3):c.3335G>A (p.Trp1112Ter) rs727504276
NM_000256.3(MYBPC3):c.3357C>A (p.Tyr1119Ter) rs1565622952
NM_000256.3(MYBPC3):c.3357C>G (p.Tyr1119Ter) rs1565622952
NM_000256.3(MYBPC3):c.3359dup (p.Arg1121fs)
NM_000256.3(MYBPC3):c.3372C>A (p.Cys1124Ter) rs727504289
NM_000256.3(MYBPC3):c.3382_3388del (p.Glu1128fs)
NM_000256.3(MYBPC3):c.3402del (p.Tyr1135fs)
NM_000256.3(MYBPC3):c.3408C>G (p.Tyr1136Ter) rs193922383
NM_000256.3(MYBPC3):c.3424C>T (p.Gln1142Ter) rs2142850286
NM_000256.3(MYBPC3):c.3440_3441del (p.Gly1146_Phe1147insTer)
NM_000256.3(MYBPC3):c.3466G>T (p.Glu1156Ter)
NM_000256.3(MYBPC3):c.3466del (p.Glu1156fs)
NM_000256.3(MYBPC3):c.3467dup (p.Pro1157fs) rs730880720
NM_000256.3(MYBPC3):c.3472_3481del (p.Val1158fs) rs730880675
NM_000256.3(MYBPC3):c.3476_3479dup (p.Pro1161fs) rs397516019
NM_000256.3(MYBPC3):c.3490+1G>A rs397516020
NM_000256.3(MYBPC3):c.350del (p.Pro117fs) rs397516023
NM_000256.3(MYBPC3):c.3512del (p.Asn1171fs) rs876657706
NM_000256.3(MYBPC3):c.3523dup (p.Leu1175fs)
NM_000256.3(MYBPC3):c.3553C>T (p.Gln1185Ter) rs730880699
NM_000256.3(MYBPC3):c.3560del (p.Leu1187fs) rs2095878299
NM_000256.3(MYBPC3):c.3570_3573del (p.Val1192fs) rs1595841063
NM_000256.3(MYBPC3):c.3572C>A (p.Ser1191Ter) rs761545914
NM_000256.3(MYBPC3):c.3595_3596del (p.Met1199fs)
NM_000256.3(MYBPC3):c.3600_3609del (p.Cys1201fs) rs727504271
NM_000256.3(MYBPC3):c.3600_3609dup (p.Val1204fs)
NM_000256.3(MYBPC3):c.3617del (p.Gly1206fs) rs1060501484
NM_000256.3(MYBPC3):c.3624del (p.Lys1209fs) rs397516029
NM_000256.3(MYBPC3):c.3624dup (p.Lys1209fs) rs397516029
NM_000256.3(MYBPC3):c.3627+1G>A rs397516031
NM_000256.3(MYBPC3):c.3627+2T>G rs1299079662
NM_000256.3(MYBPC3):c.3627+2del rs1555120258
NM_000256.3(MYBPC3):c.3628-41_3628-17del rs36212066
NM_000256.3(MYBPC3):c.362del (p.Pro121fs) rs397516032
NM_000256.3(MYBPC3):c.3641G>A (p.Trp1214Ter) rs730880597
NM_000256.3(MYBPC3):c.3662del (p.Leu1221fs) rs863225107
NM_000256.3(MYBPC3):c.3664G>T (p.Gly1222Ter) rs730880598
NM_000256.3(MYBPC3):c.3665del (p.Gly1222fs) rs1060501480
NM_000256.3(MYBPC3):c.3688_3691dup (p.Ser1231fs) rs2142849434
NM_000256.3(MYBPC3):c.3699_3700delinsCT (p.Gln1233_Gly1234delinsHisTer)
NM_000256.3(MYBPC3):c.3702_3703del (p.Leu1236fs) rs2142849399
NM_000256.3(MYBPC3):c.3713_3714del (p.Leu1238fs)
NM_000256.3(MYBPC3):c.3726del (p.Lys1242fs) rs1064796231
NM_000256.3(MYBPC3):c.3732C>A (p.Cys1244Ter) rs730880600
NM_000256.3(MYBPC3):c.3735del (p.Phe1246fs) rs397516038
NM_000256.3(MYBPC3):c.373_374del (p.Ala124_Ala125insTer) rs1057517767
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup) rs193922384
NM_000256.3(MYBPC3):c.3744_3758del (p.Gly1249_Cys1253del) rs730880676
NM_000256.3(MYBPC3):c.3746del (p.Gly1249fs) rs2142849315
NM_000256.3(MYBPC3):c.3748del (p.Ile1250fs)
NM_000256.3(MYBPC3):c.3752_3753del (p.Tyr1251fs) rs2095877711
NM_000256.3(MYBPC3):c.3752dup (p.Tyr1251Ter)
NM_000256.3(MYBPC3):c.3753T>G (p.Tyr1251Ter) rs397516039
NM_000256.3(MYBPC3):c.3766del (p.Thr1256fs) rs2095877685
NM_000256.3(MYBPC3):c.3771C>A (p.Asn1257Lys) rs730880603
NM_000256.3(MYBPC3):c.3773T>A (p.Leu1258Ter) rs730880604
NM_000256.3(MYBPC3):c.3773T>G (p.Leu1258Ter) rs730880604
NM_000256.3(MYBPC3):c.3779del (p.Gly1260fs)
NM_000256.3(MYBPC3):c.3799del (p.Arg1267fs) rs1595840648
NM_000256.3(MYBPC3):c.395dup (p.Ser133fs)
NM_000256.3(MYBPC3):c.401_405del (p.Pro134fs)
NM_000256.3(MYBPC3):c.403A>T (p.Lys135Ter) rs2142868665
NM_000256.3(MYBPC3):c.405del (p.Ser137fs) rs1555123597
NM_000256.3(MYBPC3):c.405dup (p.Gly136fs) rs1555123597
NM_000256.3(MYBPC3):c.410C>G (p.Ser137Ter) rs730880703
NM_000256.3(MYBPC3):c.416C>G (p.Ser139Ter) rs730880704
NM_000256.3(MYBPC3):c.431_432del (p.Gly144fs) rs397516047
NM_000256.3(MYBPC3):c.440del (p.Pro147fs) rs1595849931
NM_000256.3(MYBPC3):c.450del (p.Asp151fs) rs730880677
NM_000256.3(MYBPC3):c.451del (p.Asp151fs)
NM_000256.3(MYBPC3):c.453del (p.Asp151fs) rs730880679
NM_000256.3(MYBPC3):c.455_456del (p.Asp152fs) rs730880680
NM_000256.3(MYBPC3):c.459del (p.Ile154fs) rs397516052
NM_000256.3(MYBPC3):c.462del (p.Ile154fs)
NM_000256.3(MYBPC3):c.466dup (p.Leu156Profs) rs730880366
NM_000256.3(MYBPC3):c.480del (p.Pro161fs) rs1555123496
NM_000256.3(MYBPC3):c.484C>T (p.Gln162Ter) rs730880618
NM_000256.3(MYBPC3):c.506-1G>A rs397516056
NM_000256.3(MYBPC3):c.506-2A>C rs397516057
NM_000256.3(MYBPC3):c.506-3_506dup rs1555123438
NM_000256.3(MYBPC3):c.514dup (p.Ile172fs) rs2142867855
NM_000256.3(MYBPC3):c.529del (p.Arg177fs)
NM_000256.3(MYBPC3):c.533del (p.Val178fs) rs727503217
NM_000256.3(MYBPC3):c.537_540del (p.Gly180fs) rs2142867804
NM_000256.3(MYBPC3):c.551dup (p.Lys185fs) rs397516059
NM_000256.3(MYBPC3):c.553A>T (p.Lys185Ter) rs375607980
NM_000256.3(MYBPC3):c.554del (p.Lys185fs) rs2095898569
NM_000256.3(MYBPC3):c.565del (p.Val189fs) rs2142867765
NM_000256.3(MYBPC3):c.568_569del (p.Lys190fs) rs2095898532
NM_000256.3(MYBPC3):c.569del (p.Lys190fs)
NM_000256.3(MYBPC3):c.573G>A (p.Trp191Ter)
NM_000256.3(MYBPC3):c.586del (p.Trp196fs) rs730880681
NM_000256.3(MYBPC3):c.603del (p.Ser201fs)
NM_000256.3(MYBPC3):c.611_618delinsT (p.Gly204fs)
NM_000256.3(MYBPC3):c.613C>T (p.Gln205Ter) rs397516061
NM_000256.3(MYBPC3):c.619dup (p.Leu207fs)
NM_000256.3(MYBPC3):c.623_626dup (p.His210fs)
NM_000256.3(MYBPC3):c.627_637del (p.His210fs) rs1555123389
NM_000256.3(MYBPC3):c.636C>G (p.Ser212Arg) rs397516062
NM_000256.3(MYBPC3):c.653del (p.Lys218fs)
NM_000256.3(MYBPC3):c.655-1G>A rs397516067
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) rs397516068
NM_000256.3(MYBPC3):c.65_66insG (p.Ala23fs) rs1060501479
NM_000256.3(MYBPC3):c.660del (p.Leu221fs)
NM_000256.3(MYBPC3):c.669del (p.Glu223fs)
NM_000256.3(MYBPC3):c.676_701dup (p.Gly235fs) rs786204329
NM_000256.3(MYBPC3):c.681del (p.Asp228fs) rs2095896870
NM_000256.3(MYBPC3):c.688C>T (p.Gln230Ter)
NM_000256.3(MYBPC3):c.710A>C (p.Tyr237Ser) rs397516070
NM_000256.3(MYBPC3):c.718_724del (p.Glu240fs) rs2142866256
NM_000256.3(MYBPC3):c.743_746del (p.Asp248fs)
NM_000256.3(MYBPC3):c.772+1G>A rs397516072
NM_000256.3(MYBPC3):c.772G>T (p.Glu258Ter)
NM_000256.3(MYBPC3):c.787G>T (p.Gly263Ter) rs373730381
NM_000256.3(MYBPC3):c.803dup (p.Ser269fs)
NM_000256.3(MYBPC3):c.821+1G>C rs397516073
NM_000256.3(MYBPC3):c.821+1G>T rs397516073
NM_000256.3(MYBPC3):c.821+2T>A rs397516076
NM_000256.3(MYBPC3):c.821+3G>T rs727503213
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000256.3(MYBPC3):c.833del (p.Gly278fs) rs727503212
NM_000256.3(MYBPC3):c.884del (p.Phe295fs) rs730880684
NM_000256.3(MYBPC3):c.887_891del (p.Ser296fs) rs2142865197
NM_000256.3(MYBPC3):c.890C>G (p.Ser297Ter) rs2142865199
NM_000256.3(MYBPC3):c.901A>T (p.Lys301Ter) rs730880629
NM_000256.3(MYBPC3):c.906-1G>A rs587776700
NM_000256.3(MYBPC3):c.906-1G>C rs587776700
NM_000256.3(MYBPC3):c.906-36G>A rs864622197
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs) rs397516080
NM_000256.3(MYBPC3):c.923_924insAACT (p.Arg309fs) rs730880678
NM_000256.3(MYBPC3):c.927-10C>A rs201078659
NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter) rs193922386
NM_000256.3(MYBPC3):c.965G>A (p.Trp322Ter) rs2142864321
NM_000256.3(MYBPC3):c.966G>A (p.Trp322Ter) rs727503211
NM_000256.3(MYBPC3):c.989del (p.Pro330fs)
NM_000256.3(MYBPC3):c.98_99del (p.Thr33fs) rs745811346
NM_000256.3(MYBPC3):c.993dup (p.Glu332Ter) rs727503209
NM_000256.3(MYBPC3):c.999C>A (p.Tyr333Ter) rs367947846
NM_000256.3(MYBPC3):c.999C>G (p.Tyr333Ter) rs367947846
NM_000257.3(MYH7):c.4522_4524del rs397516220
NM_000257.4(MYH7):c.1012G>A (p.Val338Met) rs727503271
NM_000257.4(MYH7):c.1049A>G (p.Tyr350Cys) rs876661150
NM_000257.4(MYH7):c.1051A>G (p.Lys351Glu) rs730880864
NM_000257.4(MYH7):c.1061G>A (p.Gly354Asp) rs2138677416
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) rs397516089
NM_000257.4(MYH7):c.1106G>C (p.Arg369Pro) rs397516089
NM_000257.4(MYH7):c.1159C>T (p.Leu387Phe) rs1555338378
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) rs3218714
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln) rs121913624
NM_000257.4(MYH7):c.1208G>T (p.Arg403Leu) rs121913624
NM_000257.4(MYH7):c.1216G>A (p.Val406Met) rs1422611896
NM_000257.4(MYH7):c.1331A>G (p.Asn444Ser) rs730880159
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.1532T>C (p.Ile511Thr) rs397516110
NM_000257.4(MYH7):c.1544T>G (p.Met515Arg) rs863224900
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) rs606231324
NM_000257.4(MYH7):c.1588A>G (p.Ile530Val) rs771831848
NM_000257.4(MYH7):c.1594T>C (p.Ser532Pro) rs121913642
NM_000257.4(MYH7):c.1618T>C (p.Phe540Leu) rs1060501443
NM_000257.4(MYH7):c.1711G>C (p.Gly571Arg) rs730880879
NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg) rs121913626
NM_000257.4(MYH7):c.1801C>T (p.Leu601Phe) rs1131691685
NM_000257.4(MYH7):c.1805A>G (p.Asn602Ser) rs730880880
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) rs397516127
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys) rs727503263
NM_000257.4(MYH7):c.2012G>A (p.Arg671His) rs730880883
NM_000257.4(MYH7):c.2069T>C (p.Met690Thr) rs397516128
NM_000257.4(MYH7):c.2087A>G (p.Asn696Ser) rs730880732
NM_000257.4(MYH7):c.2092G>A (p.Val698Met) rs1057518560
NM_000257.4(MYH7):c.2104A>G (p.Ile702Val) rs863225101
NM_000257.4(MYH7):c.2105T>A (p.Ile702Asn) rs397516132
NM_000257.4(MYH7):c.2129C>A (p.Pro710His) rs727504272
NM_000257.4(MYH7):c.2135G>A (p.Arg712His) rs1224554825
NM_000257.4(MYH7):c.2146G>A (p.Gly716Arg) rs121913638
NM_000257.4(MYH7):c.2146G>C (p.Gly716Arg) rs121913638
NM_000257.4(MYH7):c.2150A>G (p.Asp717Gly)
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.2167C>G (p.Arg723Gly) rs121913630
NM_000257.4(MYH7):c.2191C>T (p.Pro731Ser) rs727504299
NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr) rs727503261
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) rs121913632
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_000257.4(MYH7):c.2222G>A (p.Gly741Glu) rs1057520814
NM_000257.4(MYH7):c.2292C>G (p.Phe764Leu) rs121913643
NM_000257.4(MYH7):c.2302G>A (p.Gly768Arg) rs727503260
NM_000257.4(MYH7):c.2302G>C (p.Gly768Arg) rs727503260
NM_000257.4(MYH7):c.2332G>A (p.Asp778Asn) rs730880895
NM_000257.4(MYH7):c.2333A>G (p.Asp778Gly) rs121913634
NM_000257.4(MYH7):c.2334C>A (p.Asp778Glu) rs2069544
NM_000257.4(MYH7):c.2334C>G (p.Asp778Glu) rs2069544
NM_000257.4(MYH7):c.2345G>A (p.Ser782Asn) rs886039185
NM_000257.4(MYH7):c.2346C>A (p.Ser782Arg) rs730880736
NM_000257.4(MYH7):c.2386C>T (p.Leu796Phe) rs1222361739
NM_000257.4(MYH7):c.2411T>C (p.Leu804Pro) rs1555337794
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.2467G>C (p.Gly823Arg) rs1566531657
NM_000257.4(MYH7):c.2497T>C (p.Tyr833His) rs730880746
NM_000257.4(MYH7):c.2513C>T (p.Pro838Leu) rs397516153
NM_000257.4(MYH7):c.2536G>A (p.Glu846Lys) rs730880748
NM_000257.4(MYH7):c.2539A>G (p.Lys847Glu) rs727504310
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) rs397516155
NM_000257.4(MYH7):c.2593A>G (p.Lys865Glu) rs730880749
NM_000257.4(MYH7):c.2594A>T (p.Lys865Met) rs758891557
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.2618T>C (p.Leu873Pro) rs1555337701
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.2632G>C (p.Val878Leu) rs730880751
NM_000257.4(MYH7):c.2632G>T (p.Val878Leu) rs730880751
NM_000257.4(MYH7):c.2707G>C (p.Glu903Gln) rs730880756
NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys) rs727503253
NM_000257.4(MYH7):c.2711G>A (p.Arg904His) rs397516165
NM_000257.4(MYH7):c.2711G>C (p.Arg904Pro) rs397516165
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000257.4(MYH7):c.2779G>A (p.Glu927Lys) rs397516170
NM_000257.4(MYH7):c.2782G>A (p.Asp928Asn) rs727503252
NM_000257.4(MYH7):c.2785GAG[2] (p.Glu931del) rs397516172
NM_000257.4(MYH7):c.2788G>A (p.Glu930Lys) rs397516171
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) rs397516171
NM_000257.4(MYH7):c.2791G>A (p.Glu931Lys) rs1131691514
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu) rs397516178
NM_000257.4(MYH7):c.323G>A (p.Arg108His) rs730880832
NM_000257.4(MYH7):c.3577C>A (p.Arg1193Ser) rs886039090
NM_000257.4(MYH7):c.3613G>A (p.Glu1205Lys) rs727505026
NM_000257.4(MYH7):c.3622G>A (p.Asp1208Asn) rs730880781
NM_000257.4(MYH7):c.3748C>T (p.Arg1250Trp) rs727503249
NM_000257.4(MYH7):c.4036C>G (p.Gln1346Glu) rs730880787
NM_000257.4(MYH7):c.4048G>A (p.Glu1350Lys) rs1316692489
NM_000257.4(MYH7):c.4124A>G (p.Tyr1375Cys) rs727503245
NM_000257.4(MYH7):c.4156C>T (p.Leu1386Phe) rs727504703
NM_000257.4(MYH7):c.415G>C (p.Val139Leu)
NM_000257.4(MYH7):c.4259G>A (p.Arg1420Gln) rs397516207
NM_000257.4(MYH7):c.4276G>A (p.Glu1426Lys) rs397516208
NM_000257.4(MYH7):c.4300C>T (p.Arg1434Cys) rs730880800
NM_000257.4(MYH7):c.4358T>C (p.Leu1453Pro) rs1246272841
NM_000257.4(MYH7):c.438G>T (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.4499G>C (p.Arg1500Pro) rs121913647
NM_000257.4(MYH7):c.4598T>C (p.Leu1533Pro)
NM_000257.4(MYH7):c.4790T>C (p.Leu1597Pro) rs2138642164
NM_000257.4(MYH7):c.4844AGA[2] (p.Lys1617del) rs121913648
NM_000257.4(MYH7):c.4937T>C (p.Leu1646Pro) rs587779393
NM_000257.4(MYH7):c.5134C>T (p.Arg1712Trp) rs121913650
NM_000257.4(MYH7):c.5177AGA[3] (p.Lys1729del) rs367543052
NM_000257.4(MYH7):c.5254G>A (p.Glu1752Lys) rs730880916
NM_000257.4(MYH7):c.5296G>A (p.Ala1766Thr) rs267606909
NM_000257.4(MYH7):c.5302G>A (p.Glu1768Lys) rs397516241
NM_000257.4(MYH7):c.5344A>G (p.Met1782Val) rs727504385
NM_000257.4(MYH7):c.5346GAA[2] (p.Lys1784del) rs730880935
NM_000257.4(MYH7):c.5378T>C (p.Leu1793Pro) rs121913654
NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys) rs397516248
NM_000257.4(MYH7):c.5533C>T (p.Arg1845Trp) rs28933098
NM_000257.4(MYH7):c.5594A>C (p.Gln1865Pro) rs1595070747
NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys) rs397516254
NM_000257.4(MYH7):c.5769del (p.Ser1924fs) rs1892066954
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.677C>T (p.Ala226Val) rs876657887
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000257.4(MYH7):c.732+1G>A rs730880850
NM_000257.4(MYH7):c.732+1G>C rs730880850
NM_000257.4(MYH7):c.732+1G>T rs730880850
NM_000257.4(MYH7):c.732+1del rs397516266
NM_000257.4(MYH7):c.732+2T>G rs1555338658
NM_000257.4(MYH7):c.740T>G (p.Phe247Cys) rs730880922
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) rs3218713
NM_000257.4(MYH7):c.746G>C (p.Arg249Pro)
NM_000257.4(MYH7):c.761C>A (p.Ala254Glu) rs878853842
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) rs397516269
NM_000257.4(MYH7):c.842G>C (p.Arg281Thr) rs730880856
NM_000258.3(MYL3):c.445A>G (p.Met149Val) rs104893748
NM_000258.3(MYL3):c.466G>T (p.Val156Leu) rs199474707
NM_000337.6(SGCD):c.133_172dup (p.Lys58fs)
NM_000337.6(SGCD):c.248_249del (p.Asp82_Ser83insTer)
NM_000337.6(SGCD):c.289C>T (p.Arg97Ter) rs758700138
NM_000337.6(SGCD):c.354_358del (p.Thr119fs) rs1760626889
NM_000337.6(SGCD):c.390del (p.Ala131fs) rs397517921
NM_000337.6(SGCD):c.414dup (p.Phe139fs)
NM_000337.6(SGCD):c.466G>T (p.Glu156Ter) rs2113389536
NM_000337.6(SGCD):c.481_485dup (p.Arg163fs)
NM_000337.6(SGCD):c.540_541del (p.Thr180_Pro181insTer)
NM_000337.6(SGCD):c.654_655del (p.Glu218fs)
NM_000337.6(SGCD):c.657del (p.Thr220fs) rs1369919728
NM_000337.6(SGCD):c.65dup (p.Tyr23fs) rs886043031
NM_000337.6(SGCD):c.74_77dup (p.Ile27fs) rs1554094947
NM_000337.6(SGCD):c.89G>A (p.Trp30Ter) rs121909296
NM_000337.6(SGCD):c.90G>A (p.Trp30Ter)
NM_000337.6(SGCD):c.97C>T (p.Arg33Ter) rs778760498
NM_000363.5(TNNI3):c.187C>T (p.Arg63Ter)
NM_000363.5(TNNI3):c.204del (p.Arg69fs) rs727504872
NM_000363.5(TNNI3):c.258del (p.Leu88fs) rs727503507
NM_000363.5(TNNI3):c.407G>A (p.Arg136Gln) rs730881069
NM_000363.5(TNNI3):c.433C>G (p.Arg145Gly) rs104894724
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.508C>T (p.Arg170Trp) rs727503504
NM_000363.5(TNNI3):c.509G>A (p.Arg170Gln) rs727503503
NM_000363.5(TNNI3):c.509G>C (p.Arg170Pro)
NM_000363.5(TNNI3):c.529AAG[1] (p.Lys178del) rs397516351
NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys) rs397516355
NM_000363.5(TNNI3):c.549G>T (p.Lys183Asn) rs2085710902
NM_000363.5(TNNI3):c.574C>T (p.Arg192Cys) rs727503499
NM_000363.5(TNNI3):c.575G>A (p.Arg192His) rs104894729
NM_000363.5(TNNI3):c.596G>A (p.Ser199Asn) rs730881091
NM_000363.5(TNNI3):c.611G>A (p.Arg204His) rs727504275
NM_000363.5(TNNI3):c.61C>T (p.Arg21Cys) rs267607128
NM_000371.4(TTR):c.112G>A (p.Asp38Asn) rs1567945632
NM_000371.4(TTR):c.113A>G (p.Asp38Gly) rs121918098
NM_000371.4(TTR):c.114T>A (p.Asp38Glu) rs779619795
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.148G>C (p.Val50Leu) rs28933979
NM_000371.4(TTR):c.148G>T (p.Val50Leu)
NM_000371.4(TTR):c.149T>C (p.Val50Ala) rs79977247
NM_000371.4(TTR):c.149T>G (p.Val50Gly) rs79977247
NM_000371.4(TTR):c.157T>C (p.Phe53Leu) rs121918068
NM_000371.4(TTR):c.160A>G (p.Arg54Gly) rs1598844184
NM_000371.4(TTR):c.161G>C (p.Arg54Thr) rs1598844187
NM_000371.4(TTR):c.165G>C (p.Lys55Asn)
NM_000371.4(TTR):c.165G>T (p.Lys55Asn) rs1567945684
NM_000371.4(TTR):c.166G>C (p.Ala56Pro) rs121918077
NM_000371.4(TTR):c.167C>A (p.Ala56Asp) rs2073494094
NM_000371.4(TTR):c.172G>C (p.Asp58His) rs2073494217
NM_000371.4(TTR):c.173A>C (p.Asp58Ala) rs1598844213
NM_000371.4(TTR):c.173A>T (p.Asp58Val) rs1598844213
NM_000371.4(TTR):c.179C>A (p.Thr60Asn) rs113625622
NM_000371.4(TTR):c.182G>T (p.Trp61Leu) rs1567945702
NM_000371.4(TTR):c.186G>C (p.Glu62Asp) rs1340627860
NM_000371.4(TTR):c.186G>T (p.Glu62Asp) rs1340627860
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.200G>A (p.Gly67Glu) rs121918090
NM_000371.4(TTR):c.206C>T (p.Thr69Ile) rs1555631387
NM_000371.4(TTR):c.210T>A (p.Ser70Arg) rs121918076
NM_000371.4(TTR):c.210T>G (p.Ser70Arg) rs121918076
NM_000371.4(TTR):c.220G>C (p.Glu74Gln) rs1555631393
NM_000371.4(TTR):c.221A>G (p.Glu74Gly) rs1598845097
NM_000371.4(TTR):c.223C>A (p.Leu75Met) rs2073510448
NM_000371.4(TTR):c.224T>G (p.Leu75Arg) rs121918079
NM_000371.4(TTR):c.229G>A (p.Gly77Arg) rs1598845111
NM_000371.4(TTR):c.233T>A (p.Leu78His) rs121918069
NM_000371.4(TTR):c.236C>A (p.Thr79Lys) rs730881163
NM_000371.4(TTR):c.244G>A (p.Glu82Lys) rs1555631402
NM_000371.4(TTR):c.250T>C (p.Phe84Leu) rs121918091
NM_000371.4(TTR):c.252T>G (p.Phe84Leu) rs2073510805
NM_000371.4(TTR):c.265T>C (p.Tyr89His) rs121918100
NM_000371.4(TTR):c.277A>G (p.Ile93Val) rs1598845164
NM_000371.4(TTR):c.290C>A (p.Ser97Tyr) rs121918071
NM_000371.4(TTR):c.302C>T (p.Ala101Val) rs1555631417
NM_000371.4(TTR):c.311T>A (p.Ile104Asn)
NM_000371.4(TTR):c.311T>C (p.Ile104Thr) rs121918072
NM_000371.4(TTR):c.311T>G (p.Ile104Ser) rs121918072
NM_000371.4(TTR):c.323A>G (p.His108Arg) rs2073511411
NM_000371.4(TTR):c.325G>A (p.Glu109Lys) rs121918082
NM_000371.4(TTR):c.325G>C (p.Glu109Gln) rs121918082
NM_000371.4(TTR):c.327G>T (p.Glu109Asp) rs876661395
NM_000371.4(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000371.4(TTR):c.381T>G (p.Ile127Met) rs751430411
NM_000371.4(TTR):c.385G>T (p.Ala129Ser) rs267607159
NM_000371.4(TTR):c.401A>G (p.Tyr134Cys) rs121918075
NM_000371.4(TTR):c.418G>T (p.Ala140Ser) rs876658108
NM_000371.4(TTR):c.421GTC[1] (p.Val142del) rs121918096
NM_000371.4(TTR):c.425T>C (p.Val142Ala) rs2144414426
NM_000371.4(TTR):c.94C>G (p.Leu32Val) rs2144406525
NM_000371.4(TTR):c.95T>C (p.Leu32Pro) rs121918094
NM_000432.4(MYL2):c.239C>A (p.Thr80Asn) rs587782965
NM_000432.4(MYL2):c.403-1G>A
NM_000432.4(MYL2):c.403-1G>T rs199474813
NM_000432.4(MYL2):c.484G>A (p.Gly162Arg) rs199474814
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys) rs104894368
NM_000475.5(NR0B1):c.1042del (p.Glu348fs) rs1926563553
NM_000475.5(NR0B1):c.1104C>A (p.Cys368Ter)
NM_000475.5(NR0B1):c.1168+1del rs2147006209
NM_000475.5(NR0B1):c.1286_1295del (p.Leu429fs)
NM_000475.5(NR0B1):c.1292del (p.Ser431fs)
NM_000475.5(NR0B1):c.159dup (p.Leu54fs) rs1926602170
NM_000475.5(NR0B1):c.226C>T (p.Gln76Ter) rs2147007353
NM_000475.5(NR0B1):c.25C>T (p.Gln9Ter)
NM_000475.5(NR0B1):c.271del (p.Tyr91fs)
NM_000475.5(NR0B1):c.292G>T (p.Glu98Ter)
NM_000475.5(NR0B1):c.327C>A (p.Cys109Ter) rs1555973172
NM_000475.5(NR0B1):c.382_425dup (p.Gln142fs)
NM_000475.5(NR0B1):c.405T>A (p.Cys135Ter)
NM_000475.5(NR0B1):c.418_452del (p.His139_Pro140insTer)
NM_000475.5(NR0B1):c.501del (p.Gly169fs) rs1569268976
NM_000475.5(NR0B1):c.509_510dup (p.Trp171fs)
NM_000475.5(NR0B1):c.516G>A (p.Trp172Ter) rs1555973131
NM_000475.5(NR0B1):c.528C>G (p.Tyr176Ter) rs767828388
NM_000475.5(NR0B1):c.552del (p.Glu185fs) rs1555973115
NM_000475.5(NR0B1):c.664C>T (p.Gln222Ter)
NM_000475.5(NR0B1):c.901C>T (p.Gln301Ter) rs1555973010
NM_000475.5(NR0B1):c.919G>T (p.Glu307Ter) rs1324519932
NM_001005242.3(PKP2):c.1002_1003del (p.Arg336fs)
NM_001005242.3(PKP2):c.1003G>T (p.Glu335Ter) rs1396519956
NM_001005242.3(PKP2):c.1125_1132del (p.Phe376fs) rs794729124
NM_001005242.3(PKP2):c.1127del (p.Phe376fs) rs2137919527
NM_001005242.3(PKP2):c.1170+1G>A rs786204392
NM_001005242.3(PKP2):c.1170+1G>C
NM_001005242.3(PKP2):c.1170+1G>T
NM_001005242.3(PKP2):c.1170+2T>A rs397516987
NM_001005242.3(PKP2):c.1177C>T (p.Gln393Ter) rs786204393
NM_001005242.3(PKP2):c.1204C>T (p.Gln402Ter)
NM_001005242.3(PKP2):c.1211dup (p.Val406fs) rs397516989
NM_001005242.3(PKP2):c.1217_1379-790inv
NM_001005242.3(PKP2):c.121del (p.Ala41fs)
NM_001005242.3(PKP2):c.1252del (p.Ala418fs) rs1555145509
NM_001005242.3(PKP2):c.1264_1265del (p.Leu422fs) rs1956690062
NM_001005242.3(PKP2):c.1295_1323dup (p.Leu442delinsArgTrpLeuAsnTer)
NM_001005242.3(PKP2):c.1368del (p.Lys456fs) rs1393661338
NM_001005242.3(PKP2):c.1369_1372del (p.Lys456_Gln457insTer) rs397516993
NM_001005242.3(PKP2):c.1378+1G>A rs397516994
NM_001005242.3(PKP2):c.1378+1G>C rs397516994
NM_001005242.3(PKP2):c.1379-1992C>T rs2137837678
NM_001005242.3(PKP2):c.1379-2047_1379-2043del rs775995156
NM_001005242.3(PKP2):c.1379-2075_1379-2074dup
NM_001005242.3(PKP2):c.1379-2091A>T
NM_001005242.3(PKP2):c.1388G>A (p.Trp463Ter) rs2137831087
NM_001005242.3(PKP2):c.1389G>A (p.Trp463Ter)
NM_001005242.3(PKP2):c.1399_1408del (p.Ser467fs) rs794729125
NM_001005242.3(PKP2):c.1410del (p.Lys470fs) rs1565586958
NM_001005242.3(PKP2):c.1434dup (p.Ala479fs) rs1565586921
NM_001005242.3(PKP2):c.1439del (p.Leu480fs)
NM_001005242.3(PKP2):c.1447del (p.Thr482_Leu483insTer) rs794729126
NM_001005242.3(PKP2):c.144_165del (p.Gln49fs) rs930283260
NM_001005242.3(PKP2):c.1482G>A (p.Trp494Ter) rs397517001
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs) rs397516997
NM_001005242.3(PKP2):c.148_151dup (p.Val51fs)
NM_001005242.3(PKP2):c.1491del (p.Asp498fs)
NM_001005242.3(PKP2):c.1498_1499insTT (p.Pro500fs) rs1318070848
NM_001005242.3(PKP2):c.1511del (p.Gly504fs) rs794729137
NM_001005242.3(PKP2):c.152_153del (p.Val51fs) rs1957127435
NM_001005242.3(PKP2):c.1532del (p.Phe511fs) rs794729127
NM_001005242.3(PKP2):c.1542_1549del (p.Thr515fs) rs1064796069
NM_001005242.3(PKP2):c.1557-2A>G rs1555143143
NM_001005242.3(PKP2):c.1593_1596dup (p.Arg533fs) rs1555143134
NM_001005242.3(PKP2):c.1616_1623dup (p.Val543fs) rs2137783366
NM_001005242.3(PKP2):c.1625del (p.Leu542fs) rs1060501182
NM_001005242.3(PKP2):c.1667del (p.Asp556fs) rs794729128
NM_001005242.3(PKP2):c.1673del (p.Lys558fs)
NM_001005242.3(PKP2):c.1680_1681delinsTT (p.Glu561Ter)
NM_001005242.3(PKP2):c.1689dup (p.Val564fs) rs397517010
NM_001005242.3(PKP2):c.1712C>T (p.Ser571Phe) rs1060501186
NM_001005242.3(PKP2):c.1716C>G (p.Tyr572Ter)
NM_001005242.3(PKP2):c.1738G>T (p.Glu580Ter) rs1956391770
NM_001005242.3(PKP2):c.173dup (p.Gln59fs)
NM_001005242.3(PKP2):c.1742_1743del (p.Lys581fs)
NM_001005242.3(PKP2):c.1750C>T (p.Gln584Ter) rs2137777670
NM_001005242.3(PKP2):c.1757del (p.Ile586fs)
NM_001005242.3(PKP2):c.175C>T (p.Gln59Ter) rs1957126844
NM_001005242.3(PKP2):c.1769del (p.Asn590fs) rs1064793231
NM_001005242.3(PKP2):c.1771del (p.Arg591fs) rs1555142984
NM_001005242.3(PKP2):c.1788_1789del (p.Asp596fs)
NM_001005242.3(PKP2):c.1820_1823dup (p.Ser608fs) rs397517013
NM_001005242.3(PKP2):c.1842dup (p.Tyr615fs) rs1956378850
NM_001005242.3(PKP2):c.1881del (p.Lys628fs) rs764817683
NM_001005242.3(PKP2):c.1883del (p.Lys628fs)
NM_001005242.3(PKP2):c.1896G>A (p.Trp632Ter) rs193922673
NM_001005242.3(PKP2):c.1901G>A (p.Trp634Ter)
NM_001005242.3(PKP2):c.190dup (p.Leu64fs) rs762288961
NM_001005242.3(PKP2):c.1949_1951delinsATCGCCAAAA (p.Val650fs) rs1064792929
NM_001005242.3(PKP2):c.1963C>T (p.Gln655Ter)
NM_001005242.3(PKP2):c.1968del (p.Ala657fs) rs1956374971
NM_001005242.3(PKP2):c.198del (p.Lys67fs) rs1555149952
NM_001005242.3(PKP2):c.2013+2T>C
NM_001005242.3(PKP2):c.2014-1_2014del
NM_001005242.3(PKP2):c.2044C>T (p.Gln682Ter) rs1325285497
NM_001005242.3(PKP2):c.2047A>T (p.Lys683Ter) rs1956192249
NM_001005242.3(PKP2):c.2062C>T (p.Gln688Ter) rs1956192035
NM_001005242.3(PKP2):c.2066_2071delinsG (p.His689fs) rs878854710
NM_001005242.3(PKP2):c.2071C>T (p.Arg691Ter) rs121434421
NM_001005242.3(PKP2):c.2148_2149del (p.Leu718fs) rs1592729525
NM_001005242.3(PKP2):c.2180_2181del (p.Leu727fs) rs1064794350
NM_001005242.3(PKP2):c.218dup (p.Asn74fs) rs1257456477
NM_001005242.3(PKP2):c.2202_2206delinsCAGT (p.Pro735fs) rs397517022
NM_001005242.3(PKP2):c.224-1639_274del
NM_001005242.3(PKP2):c.2254T>C (p.Cys752Arg) rs794729098
NM_001005242.3(PKP2):c.2276del (p.Ile759fs) rs1956120988
NM_001005242.3(PKP2):c.2282del (p.Asn761fs) rs1956120794
NM_001005242.3(PKP2):c.2357+1G>T rs111517471
NM_001005242.3(PKP2):c.2359_2366del (p.Tyr787fs)
NM_001005242.3(PKP2):c.2361T>A (p.Tyr787Ter)
NM_001005242.3(PKP2):c.2377del (p.Ser793fs) rs727504432
NM_001005242.3(PKP2):c.2404del (p.Ser802fs)
NM_001005242.3(PKP2):c.2408_2411del (p.Leu803fs) rs2137698036
NM_001005242.3(PKP2):c.2422del (p.Glu808fs) rs1353074803
NM_001005242.3(PKP2):c.253G>T (p.Glu85Ter) rs2137953226
NM_001005242.3(PKP2):c.253_256del (p.Glu85fs) rs786204388
NM_001005242.3(PKP2):c.256dup (p.Tyr86fs) rs794729120
NM_001005242.3(PKP2):c.275T>A (p.Leu92Ter) rs763639737
NM_001005242.3(PKP2):c.296_300dup (p.Arg101fs) rs2137952811
NM_001005242.3(PKP2):c.308_309del (p.Pro103fs)
NM_001005242.3(PKP2):c.329dup (p.Met110fs) rs2137952495
NM_001005242.3(PKP2):c.337-2A>T rs786204389
NM_001005242.3(PKP2):c.357T>G (p.Tyr119Ter)
NM_001005242.3(PKP2):c.368G>A (p.Trp123Ter) rs760576804
NM_001005242.3(PKP2):c.369G>A (p.Trp123Ter) rs774663443
NM_001005242.3(PKP2):c.371del (p.Gly124fs)
NM_001005242.3(PKP2):c.379dup (p.Thr127fs) rs2137950985
NM_001005242.3(PKP2):c.397C>T (p.Gln133Ter) rs794729132
NM_001005242.3(PKP2):c.409del (p.Glu137fs)
NM_001005242.3(PKP2):c.464dup (p.Ser155fs) rs2137950376
NM_001005242.3(PKP2):c.472_473del (p.Arg158fs) rs2137950267
NM_001005242.3(PKP2):c.499C>T (p.Gln167Ter) rs1565599473
NM_001005242.3(PKP2):c.517C>T (p.Gln173Ter) rs794729103
NM_001005242.3(PKP2):c.544del (p.Glu182fs)
NM_001005242.3(PKP2):c.582T>A (p.Tyr194Ter) rs532048791
NM_001005242.3(PKP2):c.582T>G (p.Tyr194Ter) rs532048791
NM_001005242.3(PKP2):c.604dup (p.Val202fs)
NM_001005242.3(PKP2):c.623del (p.Thr208fs) rs794729122
NM_001005242.3(PKP2):c.654_655del (p.His218fs) rs1591828796
NM_001005242.3(PKP2):c.654_679dup (p.Ser227fs)
NM_001005242.3(PKP2):c.658C>T (p.Gln220Ter) rs886041322
NM_001005242.3(PKP2):c.67G>T (p.Gly23Ter)
NM_001005242.3(PKP2):c.68del (p.Gly23fs) rs1555149975
NM_001005242.3(PKP2):c.704_708dup (p.Asn237fs)
NM_001005242.3(PKP2):c.759_769del (p.Asn254fs) rs2137948074
NM_001005242.3(PKP2):c.772A>T (p.Lys258Ter) rs727504430
NM_001005242.3(PKP2):c.775G>T (p.Glu259Ter) rs1425855043
NM_001005242.3(PKP2):c.808C>T (p.Gln270Ter)
NM_001005242.3(PKP2):c.870G>A (p.Trp290Ter)
NM_001005242.3(PKP2):c.916_931del (p.Pro306fs)
NM_001005242.3(PKP2):c.921dup (p.Val308fs)
NM_001005242.3(PKP2):c.929_951dup (p.His318fs) rs1064792927
NM_001005242.3(PKP2):c.951del (p.His318fs) rs1555148048
NM_001005242.3(PKP2):c.958_979del (p.Thr320fs)
NM_001005242.3(PKP2):c.962_965del (p.Val321fs) rs2137946218
NM_001005242.3(PKP2):c.963del (p.Gly322fs)
NM_001005242.3(PKP2):c.966_967del (p.Gln323fs) rs2137946195
NM_001005242.3(PKP2):c.968_971delinsGCT (p.Gln323fs) rs1555148035
NM_001005242.3(PKP2):c.986_992del (p.Ser329fs) rs1373300155
NM_001005242.3(PKP2):c.987del (p.Ser329fs) rs1432861552
NM_001018005.2(TPM1):c.188C>T (p.Ala63Val) rs199476306
NM_001018005.2(TPM1):c.284T>C (p.Val95Ala) rs104894504
NM_001018005.2(TPM1):c.389T>C (p.Ile130Thr) rs727503517
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn) rs397516373
NM_001018005.2(TPM1):c.479G>A (p.Arg160His) rs199476311
NM_001018005.2(TPM1):c.539A>G (p.Glu180Gly) rs104894502
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) rs199476315
NM_001018005.2(TPM1):c.602C>T (p.Thr201Met) rs730881141
NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn) rs199476317
NM_001018005.2(TPM1):c.725C>T (p.Ala242Val) rs397516387
NM_001035.3(RYR2):c.1069G>A (p.Gly357Ser) rs1401116572
NM_001035.3(RYR2):c.11583G>T (p.Gln3861His)
NM_001035.3(RYR2):c.11623G>A (p.Val3875Ile) rs1060500137
NM_001035.3(RYR2):c.11814C>A (p.Ser3938Arg) rs794728704
NM_001035.3(RYR2):c.11836G>A (p.Gly3946Ser) rs794728777
NM_001035.3(RYR2):c.11837G>A (p.Gly3946Asp) rs1226397753
NM_001035.3(RYR2):c.11959G>C (p.Glu3987Gln) rs794728778
NM_001035.3(RYR2):c.11989A>G (p.Lys3997Glu) rs1064794210
NM_001035.3(RYR2):c.1198G>A (p.Asp400Asn) rs1553454821
NM_001035.3(RYR2):c.1199A>C (p.Asp400Ala)
NM_001035.3(RYR2):c.12239A>G (p.Tyr4080Cys) rs794728781
NM_001035.3(RYR2):c.12269C>T (p.Pro4090Leu) rs2149353116
NM_001035.3(RYR2):c.12272C>T (p.Ala4091Val) rs794728783
NM_001035.3(RYR2):c.12322C>T (p.His4108Tyr)
NM_001035.3(RYR2):c.12372C>A (p.Ser4124Arg) rs771994461
NM_001035.3(RYR2):c.12424G>A (p.Ala4142Thr) rs761834154
NM_001035.3(RYR2):c.12446A>G (p.Tyr4149Cys) rs1234449785
NM_001035.3(RYR2):c.12464C>A (p.Ser4155Tyr) rs2149353940
NM_001035.3(RYR2):c.12470G>A (p.Arg4157Gln) rs794728786
NM_001035.3(RYR2):c.12475C>A (p.Gln4159Lys)
NM_001035.3(RYR2):c.12477G>T (p.Gln4159His) rs1558405653
NM_001035.3(RYR2):c.12521T>A (p.Phe4174Tyr)
NM_001035.3(RYR2):c.12533A>G (p.Asn4178Ser) rs794728787
NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln) rs794728721
NM_001035.3(RYR2):c.12602A>G (p.Gln4201Arg) rs121918605
NM_001035.3(RYR2):c.12603G>T (p.Gln4201His) rs2149354441
NM_001035.3(RYR2):c.13489C>T (p.Arg4497Cys) rs121918600
NM_001035.3(RYR2):c.13763T>C (p.Ile4588Thr) rs876661386
NM_001035.3(RYR2):c.13798T>C (p.Phe4600Leu) rs2149388042
NM_001035.3(RYR2):c.13823G>A (p.Arg4608Gln) rs1553328170
NM_001035.3(RYR2):c.13836T>G (p.Phe4612Leu) rs2149388137
NM_001035.3(RYR2):c.14251A>G (p.Lys4751Glu) rs794728802
NM_001035.3(RYR2):c.14311G>A (p.Val4771Ile) rs794728804
NM_001035.3(RYR2):c.14473G>A (p.Gly4825Arg)
NM_001035.3(RYR2):c.14553C>A (p.Phe4851Leu) rs1291829047
NM_001035.3(RYR2):c.14586A>G (p.Ile4862Met) rs1558481148
NM_001035.3(RYR2):c.14590G>T (p.Gly4864Cys) rs1553339086
NM_001035.3(RYR2):c.14638G>A (p.Val4880Ile) rs2102926494
NM_001035.3(RYR2):c.14710G>A (p.Gly4904Ser) rs2102947297
NM_001035.3(RYR2):c.14777T>C (p.Ile4926Thr) rs1663793007
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001035.3(RYR2):c.14885A>G (p.Tyr4962Cys) rs794728832
NM_001035.3(RYR2):c.14897T>C (p.Leu4966Pro)
NM_001035.3(RYR2):c.1814G>T (p.Gly605Val)
NM_001035.3(RYR2):c.230C>T (p.Ala77Val) rs1060500142
NM_001035.3(RYR2):c.239A>G (p.Glu80Gly) rs794728706
NM_001035.3(RYR2):c.344A>G (p.Tyr115Cys) rs1558698334
NM_001035.3(RYR2):c.37T>C (p.Phe13Leu) rs794728761
NM_001035.3(RYR2):c.490C>T (p.Pro164Ser)
NM_001035.3(RYR2):c.506G>A (p.Arg169Gln) rs397516539
NM_001035.3(RYR2):c.514G>A (p.Gly172Arg) rs1701129738
NM_001035.3(RYR2):c.5170G>A (p.Glu1724Lys) rs794728740
NM_001035.3(RYR2):c.527G>A (p.Arg176Gln) rs794728708
NM_001035.3(RYR2):c.567A>C (p.Glu189Asp)
NM_001035.3(RYR2):c.6504C>A (p.His2168Gln) rs760237464
NM_001035.3(RYR2):c.6504C>G (p.His2168Gln) rs760237464
NM_001035.3(RYR2):c.6602G>A (p.Cys2201Tyr)
NM_001035.3(RYR2):c.6632A>C (p.Gln2211Pro)
NM_001035.3(RYR2):c.6646G>C (p.Asp2216His) rs1558103974
NM_001035.3(RYR2):c.6737C>T (p.Ser2246Leu) rs121918597
NM_001035.3(RYR2):c.6886G>A (p.Glu2296Lys) rs1060500156
NM_001035.3(RYR2):c.6900C>G (p.Asp2300Glu) rs2148724390
NM_001035.3(RYR2):c.6916G>A (p.Val2306Ile) rs794728746
NM_001035.3(RYR2):c.6933G>C (p.Glu2311Asp) rs794728747
NM_001035.3(RYR2):c.6982C>G (p.Pro2328Ala) rs121918603
NM_001035.3(RYR2):c.7157A>T (p.Asn2386Ile) rs121918601
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.7175A>G (p.Tyr2392Cys)
NM_001035.3(RYR2):c.7202G>A (p.Arg2401His) rs794728756
NM_001035.3(RYR2):c.7213G>A (p.Glu2405Lys) rs2148739141
NM_001035.3(RYR2):c.7421G>A (p.Arg2474Lys) rs2148789775
NM_001035.3(RYR2):c.7580T>G (p.Leu2527Trp) rs1682561583
NM_001103.4(ACTN2):c.355G>A (p.Ala119Thr) rs727502886
NM_001122630.2(CDKN1C):c.100G>T (p.Glu34Ter)
NM_001122630.2(CDKN1C):c.132del (p.Glu45fs) rs2133786067
NM_001122630.2(CDKN1C):c.133G>T (p.Glu45Ter) rs1848974871
NM_001122630.2(CDKN1C):c.156_157insTTCCAGCTGG (p.Asp53fs) rs1554938197
NM_001122630.2(CDKN1C):c.161_164del (p.Phe54fs)
NM_001122630.2(CDKN1C):c.163C>T (p.Gln55Ter)
NM_001122630.2(CDKN1C):c.163del (p.Gln55fs) rs1554938194
NM_001122630.2(CDKN1C):c.174dup (p.Pro59fs) rs2133785873
NM_001122630.2(CDKN1C):c.176C>T (p.Pro59Leu) rs483352970
NM_001122630.2(CDKN1C):c.185dup (p.Gly64fs)
NM_001122630.2(CDKN1C):c.193_200dup (p.Gln67fs) rs2133785723
NM_001122630.2(CDKN1C):c.199C>T (p.Gln67Ter) rs2133785734
NM_001122630.2(CDKN1C):c.203G>A (p.Trp68Ter) rs1379762772
NM_001122630.2(CDKN1C):c.204G>A (p.Trp68Ter) rs2133785693
NM_001122630.2(CDKN1C):c.205del (p.Thr69fs) rs2133785682
NM_001122630.2(CDKN1C):c.224C>A (p.Ser75Ter)
NM_001122630.2(CDKN1C):c.244G>T (p.Glu82Ter) rs2133785530
NM_001122630.2(CDKN1C):c.261dup (p.Arg88fs)
NM_001122630.2(CDKN1C):c.278_279insAGCA (p.Pro95fs) rs1848966851
NM_001122630.2(CDKN1C):c.283_300delinsG (p.Pro95fs) rs1848965153
NM_001122630.2(CDKN1C):c.296del (p.Ala99fs)
NM_001122630.2(CDKN1C):c.325G>T (p.Glu109Ter) rs1220263188
NM_001122630.2(CDKN1C):c.347del (p.Asp116fs)
NM_001122630.2(CDKN1C):c.351_358del (p.Leu118fs) rs1554938087
NM_001122630.2(CDKN1C):c.354del (p.Glu119fs) rs1590150660
NM_001122630.2(CDKN1C):c.355G>T (p.Glu119Ter) rs1564930265
NM_001122630.2(CDKN1C):c.35_50del (p.Val12fs)
NM_001122630.2(CDKN1C):c.388del (p.Val130fs)
NM_001122630.2(CDKN1C):c.399_415del (p.Ala134fs) rs2133784715
NM_001122630.2(CDKN1C):c.410del (p.Pro137fs) rs2133784748
NM_001122630.2(CDKN1C):c.416dup (p.Val140fs)
NM_001122630.2(CDKN1C):c.417_420del (p.Val140fs) rs1848953740
NM_001122630.2(CDKN1C):c.41_44del (p.Val14fs)
NM_001122630.2(CDKN1C):c.421_422insA (p.Pro141fs) rs2133784672
NM_001122630.2(CDKN1C):c.512del (p.Pro171fs)
NM_001122630.2(CDKN1C):c.542del (p.Pro181fs)
NM_001122630.2(CDKN1C):c.55dup (p.Cys19fs)
NM_001122630.2(CDKN1C):c.572dup (p.Ala192fs)
NM_001122630.2(CDKN1C):c.574_598dup (p.Ala200fs) rs1848931980
NM_001122630.2(CDKN1C):c.578_602dup (p.Ala202fs) rs1554937847
NM_001122630.2(CDKN1C):c.578del (p.Pro193fs) rs2133783249
NM_001122630.2(CDKN1C):c.57C>A (p.Cys19Ter) rs759365577
NM_001122630.2(CDKN1C):c.599_609del (p.Ala200fs) rs1848930692
NM_001122630.2(CDKN1C):c.604del (p.Ala202fs)
NM_001122630.2(CDKN1C):c.60_61del (p.Ser21fs) rs2133786397
NM_001122630.2(CDKN1C):c.614del (p.Pro205fs) rs1564929584
NM_001122630.2(CDKN1C):c.630del (p.Glu211fs)
NM_001122630.2(CDKN1C):c.640G>T (p.Glu214Ter) rs1564929520
NM_001122630.2(CDKN1C):c.655C>T (p.Gln219Ter) rs483352988
NM_001122630.2(CDKN1C):c.661del (p.Gln221fs)
NM_001122630.2(CDKN1C):c.662del (p.Gln221fs)
NM_001122630.2(CDKN1C):c.673G>T (p.Glu225Ter) rs1564929426
NM_001122630.2(CDKN1C):c.67_68insGAG (p.Phe23Ter) rs1848979151
NM_001122630.2(CDKN1C):c.688C>T (p.Gln230Ter) rs483352991
NM_001122630.2(CDKN1C):c.698C>A (p.Ser233Ter) rs483352993
NM_001122630.2(CDKN1C):c.707C>A (p.Ser236Ter) rs104894200
NM_001122630.2(CDKN1C):c.719_730delinsGTGC (p.Ala240fs) rs1554937726
NM_001122630.2(CDKN1C):c.724_727dup (p.Thr243fs)
NM_001122630.2(CDKN1C):c.730del (p.Ala244fs)
NM_001122630.2(CDKN1C):c.745_757del (p.Asn249fs) rs2133782023
NM_001122630.2(CDKN1C):c.748_749del (p.Gly250fs) rs2133782104
NM_001122630.2(CDKN1C):c.74_75del (p.Pro25fs) rs1848978708
NM_001122630.2(CDKN1C):c.787G>A (p.Asp263Asn) rs387907225
NM_001122630.2(CDKN1C):c.790_791insC (p.Phe264fs)
NM_001122630.2(CDKN1C):c.803G>T (p.Arg268Leu) rs318240750
NM_001122630.2(CDKN1C):c.809_810del (p.Arg270fs) rs2133780268
NM_001122630.2(CDKN1C):c.812C>G (p.Ser271Ter) rs267606716
NM_001122630.2(CDKN1C):c.812del (p.Arg270_Ser271insTer)
NM_001122630.2(CDKN1C):c.820G>T (p.Glu274Ter)
NM_001122630.2(CDKN1C):c.837del (p.Asp279fs)
NM_001122630.2(CDKN1C):c.85G>T (p.Glu29Ter) rs1564930723
NM_001122630.2(CDKN1C):c.92T>C (p.Leu31Pro) rs1848977725
NM_001122630.2(CDKN1C):c.95_96insA (p.Ser32fs) rs2133786225
NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp) rs796734066
NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser) rs267607002
NM_001134363.3(RBM20):c.1907G>T (p.Arg636Leu)
NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu) rs267607003
NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys) rs397516607
NM_001135697.3(SGCA):c.584+521del rs1220674950
NM_001159699.2(FHL1):c.104dup (p.Tyr35Ter)
NM_001159699.2(FHL1):c.108del (p.Gln37fs) rs1060502840
NM_001159699.2(FHL1):c.156T>A (p.Cys52Ter)
NM_001159699.2(FHL1):c.216T>A (p.Tyr72Ter) rs2073860048
NM_001159699.2(FHL1):c.243C>A (p.Cys81Ter) rs777580253
NM_001159699.2(FHL1):c.263_276del (p.Leu88fs)
NM_001159699.2(FHL1):c.288del (p.Phe96fs) rs2148373432
NM_001159699.2(FHL1):c.339dup (p.Ser114fs)
NM_001159699.2(FHL1):c.349T>C (p.Cys117Arg) rs2073864792
NM_001159699.2(FHL1):c.360dup (p.Phe121fs) rs1556638935
NM_001159699.2(FHL1):c.379+1G>A rs2073866799
NM_001159699.2(FHL1):c.393_394dup (p.Glu132fs)
NM_001159699.2(FHL1):c.406_409dup (p.Val137fs) rs1569530437
NM_001159699.2(FHL1):c.413G>A (p.Trp138Ter) rs122458140
NM_001159699.2(FHL1):c.414G>C (p.Trp138Cys) rs1556639109
NM_001159699.2(FHL1):c.414del (p.Trp138fs) rs2148375686
NM_001159699.2(FHL1):c.416A>G (p.His139Arg) rs267606812
NM_001159699.2(FHL1):c.417C>A (p.His139Gln) rs267606813
NM_001159699.2(FHL1):c.417C>G (p.His139Gln) rs267606813
NM_001159699.2(FHL1):c.419_420del (p.Lys140fs) rs2073885767
NM_001159699.2(FHL1):c.441del (p.Cys148fs) rs2148375860
NM_001159699.2(FHL1):c.466_470del (p.Ser156fs) rs1556639151
NM_001159699.2(FHL1):c.496T>C (p.Cys166Arg) rs1603271659
NM_001159699.2(FHL1):c.497G>A (p.Cys166Tyr) rs122459146
NM_001159699.2(FHL1):c.505T>A (p.Cys169Ser) rs122458144
NM_001159699.2(FHL1):c.505T>C (p.Cys169Arg) rs122458144
NM_001159699.2(FHL1):c.507C>G (p.Cys169Trp)
NM_001159699.2(FHL1):c.518del (p.Lys173fs)
NM_001159699.2(FHL1):c.55G>T (p.Glu19Ter) rs2148371451
NM_001159699.2(FHL1):c.576C>G (p.Tyr192Ter) rs1603272191
NM_001159699.2(FHL1):c.590G>A (p.Trp197Ter) rs1191211949
NM_001159699.2(FHL1):c.613_614del (p.Val205fs) rs1569530588
NM_001159699.2(FHL1):c.618del (p.Cys207fs) rs2148378462
NM_001159699.2(FHL1):c.640C>T (p.Gln214Ter) rs1603272223
NM_001159699.2(FHL1):c.644_650dup (p.Ala218fs) rs2073913069
NM_001159699.2(FHL1):c.661dup (p.Asp221fs) rs1556639379
NM_001159699.2(FHL1):c.670_671dup (p.Cys225fs) rs1603272263
NM_001159699.2(FHL1):c.671dup (p.Tyr224Ter)
NM_001159699.2(FHL1):c.672C>G (p.Tyr224Ter)
NM_001159699.2(FHL1):c.673T>C (p.Cys225Arg) rs122459149
NM_001159699.2(FHL1):c.720C>G (p.Cys240Trp) rs122458141
NM_001159699.2(FHL1):c.736+1G>C rs786200914
NM_001159699.2(FHL1):c.736+2T>G rs2073916521
NM_001159699.2(FHL1):c.792C>G (p.Tyr264Ter)
NM_001159699.2(FHL1):c.801delinsAA (p.His267fs)
NM_001159699.2(FHL1):c.810dup (p.Cys271fs) rs2073964376
NM_001159699.2(FHL1):c.812dup (p.Cys271fs)
NM_001159699.2(FHL1):c.831del (p.Asn277fs)
NM_001159699.2(FHL1):c.834dup (p.Arg279fs)
NM_001159699.2(FHL1):c.841_844dup (p.Phe282fs) rs1603273685
NM_001159699.2(FHL1):c.853G>T (p.Glu285Ter)
NM_001159699.2(FHL1):c.856C>T (p.Gln286Ter)
NM_001159699.2(FHL1):c.857_870dup (p.Asp291fs)
NM_001159699.2(FHL1):c.863_864dup (p.Cys289fs) rs2148383945
NM_001159699.2(FHL1):c.875G>A (p.Cys292Tyr) rs2148384040
NM_001232.4(CASQ2):c.1014+1G>A rs1654250819
NM_001232.4(CASQ2):c.1017dup (p.Asp340Ter) rs1553191909
NM_001232.4(CASQ2):c.1028G>A (p.Trp343Ter)
NM_001232.4(CASQ2):c.1082G>A (p.Trp361Ter)
NM_001232.4(CASQ2):c.115G>T (p.Glu39Ter) rs756636650
NM_001232.4(CASQ2):c.199C>T (p.Gln67Ter)
NM_001232.4(CASQ2):c.205C>T (p.Gln69Ter)
NM_001232.4(CASQ2):c.244C>T (p.Gln82Ter)
NM_001232.4(CASQ2):c.2T>C (p.Met1Thr) rs1553197939
NM_001232.4(CASQ2):c.31del (p.Ile11fs)
NM_001232.4(CASQ2):c.339_354del (p.Ser113fs) rs786205106
NM_001232.4(CASQ2):c.381C>T (p.Gly127=) rs775663612
NM_001232.4(CASQ2):c.3G>A (p.Met1Ile)
NM_001232.4(CASQ2):c.414_415del (p.Leu139fs)
NM_001232.4(CASQ2):c.466C>T (p.Gln156Ter) rs1648034747
NM_001232.4(CASQ2):c.475G>T (p.Glu159Ter) rs375598471
NM_001232.4(CASQ2):c.537C>A (p.Tyr179Ter)
NM_001232.4(CASQ2):c.546del (p.Phe182fs) rs763955301
NM_001232.4(CASQ2):c.715G>T (p.Glu239Ter) rs1647617368
NM_001232.4(CASQ2):c.737+1G>A
NM_001232.4(CASQ2):c.754del (p.Leu252fs)
NM_001232.4(CASQ2):c.781del (p.Trp261fs)
NM_001232.4(CASQ2):c.846C>A (p.Tyr282Ter)
NM_001232.4(CASQ2):c.856G>T (p.Glu286Ter) rs1471576368
NM_001232.4(CASQ2):c.925del (p.Asp309fs)
NM_001232.4(CASQ2):c.939+5G>C rs746128346
NM_001232.4(CASQ2):c.974_983del (p.Asp325fs)
NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter) rs397507556
NM_001232.4(CASQ2):c.988C>T (p.Gln330Ter) rs767023791
NM_001267550.2(TTN):c.100446dup (p.Glu33483fs) rs878854281
NM_001267550.2(TTN):c.100825C>T (p.Arg33609Ter) rs1057518195
NM_001267550.2(TTN):c.102523C>T (p.Arg34175Ter) rs752697861
NM_001267550.2(TTN):c.103354C>T (p.Gln34452Ter)
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.103737_103738insCA (p.Met34580fs) rs2154134687
NM_001267550.2(TTN):c.103749del (p.Lys34583fs) rs1689787372
NM_001267550.2(TTN):c.104269C>T (p.Gln34757Ter) rs2154134221
NM_001267550.2(TTN):c.104509_104510del (p.Leu34837fs)
NM_001267550.2(TTN):c.106137dup (p.Lys35380Ter) rs886044460
NM_001267550.2(TTN):c.106358G>A (p.Trp35453Ter) rs922408768
NM_001267550.2(TTN):c.106531+1G>A rs760915007
NM_001267550.2(TTN):c.107377+1G>C rs112188483
NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys) rs281864927
NM_001267550.2(TTN):c.107889del (p.Lys35963fs) rs281864930
NM_001267550.2(TTN):c.12870dup (p.Val4291fs) rs869025556
NM_001267550.2(TTN):c.15496+1G>A rs397517481
NM_001267550.2(TTN):c.2663_2669delinsCTTCAC (p.Asp888fs) rs2093000714
NM_001267550.2(TTN):c.34253_34277del (p.Leu11418fs) rs1373610867
NM_001267550.2(TTN):c.35756del (p.Pro11919fs) rs1241310204
NM_001267550.2(TTN):c.40409-2A>C rs1560046529
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu) rs587780488
NM_001267550.2(TTN):c.41118del (p.Phe13706fs) rs878854305
NM_001267550.2(TTN):c.41473C>T (p.Arg13825Ter) rs869312043
NM_001267550.2(TTN):c.47137_47138del (p.Ser15713fs) rs886039125
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs) rs756433029
NM_001267550.2(TTN):c.47314C>T (p.Arg15772Ter) rs2154209202
NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter) rs751502842
NM_001267550.2(TTN):c.50296C>T (p.Arg16766Ter) rs754866489
NM_001267550.2(TTN):c.51244dup (p.Tyr17082fs) rs1576402791
NM_001267550.2(TTN):c.51436+1G>T rs761807131
NM_001267550.2(TTN):c.51436+2T>C
NM_001267550.2(TTN):c.52307_52310dup (p.Glu17437delinsAspTer) rs794729323
NM_001267550.2(TTN):c.53393del (p.Gly17798fs) rs794729324
NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter) rs727503607
NM_001267550.2(TTN):c.54067C>T (p.Arg18023Ter) rs1553682168
NM_001267550.2(TTN):c.54190+1G>A rs756339648
NM_001267550.2(TTN):c.54190+1G>T
NM_001267550.2(TTN):c.55351C>T (p.Arg18451Ter) rs1440093502
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter) rs72646831
NM_001267550.2(TTN):c.58270G>T (p.Glu19424Ter) rs72646837
NM_001267550.2(TTN):c.59926+1G>A rs553526525
NM_001267550.2(TTN):c.59926+1G>C
NM_001267550.2(TTN):c.60307A>T (p.Arg20103Ter) rs1553644307
NM_001267550.2(TTN):c.60579G>A (p.Trp20193Ter) rs2050116026
NM_001267550.2(TTN):c.61495C>T (p.Arg20499Ter) rs869312112
NM_001267550.2(TTN):c.62506C>T (p.Arg20836Ter) rs757231565
NM_001267550.2(TTN):c.63010G>T (p.Glu21004Ter) rs769345390
NM_001267550.2(TTN):c.63049_63050dup (p.Ile21018fs) rs1559561666
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter) rs764243269
NM_001267550.2(TTN):c.64011C>A (p.Tyr21337Ter) rs1553636324
NM_001267550.2(TTN):c.64397-2del
NM_001267550.2(TTN):c.64453C>T (p.Arg21485Ter) rs768345594
NM_001267550.2(TTN):c.64999C>T (p.Arg21667Ter) rs794729280
NM_001267550.2(TTN):c.66769+2T>A rs1060500483
NM_001267550.2(TTN):c.67279C>T (p.Arg22427Ter) rs1200988060
NM_001267550.2(TTN):c.67348C>T (p.Gln22450Ter) rs1403485272
NM_001267550.2(TTN):c.68286_68289dup (p.Trp22764fs) rs2154174801
NM_001267550.2(TTN):c.68308del (p.Thr22770fs) rs1064796112
NM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter) rs371678190
NM_001267550.2(TTN):c.68463_68466dup (p.Leu22823fs)
NM_001267550.2(TTN):c.69553C>T (p.Arg23185Ter) rs878854328
NM_001267550.2(TTN):c.70162C>T (p.Arg23388Ter) rs781540455
NM_001267550.2(TTN):c.70978C>T (p.Arg23660Ter) rs1553612386
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.74338C>T (p.Arg24780Ter) rs794729285
NM_001267550.2(TTN):c.74368_74376delinsTAAG (p.Leu24790_Asn24792delinsTer) rs1064796390
NM_001267550.2(TTN):c.74444del (p.Pro24815fs)
NM_001267550.2(TTN):c.7501C>T (p.Arg2501Ter) rs781459488
NM_001267550.2(TTN):c.75469C>T (p.Arg25157Ter) rs1553603394
NM_001267550.2(TTN):c.75546C>A (p.Tyr25182Ter) rs1553603152
NM_001267550.2(TTN):c.75633_75636dup (p.Val25213fs) rs1553603036
NM_001267550.2(TTN):c.75663del (p.Lys25221fs) rs1131691542
NM_001267550.2(TTN):c.76179_76180insAACTTAGTGAACCAAGCCCTCCT (p.Ser25394fs) rs878854335
NM_001267550.2(TTN):c.76717C>T (p.Arg25573Ter) rs767450912
NM_001267550.2(TTN):c.77120_77121del (p.Val25707fs)
NM_001267550.2(TTN):c.77646del (p.Ile25883fs) rs2154167034
NM_001267550.2(TTN):c.78095_78098del (p.Arg26032fs) rs869312117
NM_001267550.2(TTN):c.78855_78858del (p.Arg26286fs) rs794729346
NM_001267550.2(TTN):c.78991C>T (p.Arg26331Ter) rs779996703
NM_001267550.2(TTN):c.79294C>T (p.Arg26432Ter) rs774411587
NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter) rs869025545
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter) rs557312035
NM_001267550.2(TTN):c.81942del (p.Glu27315fs)
NM_001267550.2(TTN):c.82036C>T (p.Gln27346Ter) rs886042331
NM_001267550.2(TTN):c.82639G>T (p.Glu27547Ter) rs779874042
NM_001267550.2(TTN):c.83515C>T (p.Arg27839Ter) rs869312118
NM_001267550.2(TTN):c.84819G>A (p.Trp28273Ter) rs72648222
NM_001267550.2(TTN):c.85008_85011del (p.Glu28338fs) rs869312100
NM_001267550.2(TTN):c.85011_85014del (p.Glu28338fs) rs2154159327
NM_001267550.2(TTN):c.85768C>T (p.Arg28590Ter) rs748689777
NM_001267550.2(TTN):c.86076dup (p.Ser28693fs) rs1285329277
NM_001267550.2(TTN):c.86116C>T (p.Arg28706Ter) rs794729384
NM_001267550.2(TTN):c.86363G>A (p.Trp28788Ter) rs1064793814
NM_001267550.2(TTN):c.86387_86391del (p.Arg28796fs) rs794729354
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer) rs727504856
NM_001267550.2(TTN):c.86821+1G>A rs1702741860
NM_001267550.2(TTN):c.87355del (p.Ala29119fs) rs794729356
NM_001267550.2(TTN):c.87559G>T (p.Glu29187Ter) rs1060500586
NM_001267550.2(TTN):c.87624C>G (p.Tyr29208Ter)
NM_001267550.2(TTN):c.88462dup (p.Cys29488fs) rs2154153413
NM_001267550.2(TTN):c.88594+1G>T rs794727467
NM_001267550.2(TTN):c.89197+2T>G rs1575536935
NM_001267550.2(TTN):c.93088del (p.Arg31030fs) rs2154147488
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter) rs72648250
NM_001267550.2(TTN):c.94103_94107del (p.Ile31368fs) rs769488730
NM_001267550.2(TTN):c.94344_94347del (p.Lys31448fs) rs727503546
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg) rs869320740
NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys) rs869320742
NM_001267550.2(TTN):c.95341C>T (p.Arg31781Ter) rs780414947
NM_001267550.2(TTN):c.95351C>T (p.Ala31784Val) rs1553520967
NM_001267550.2(TTN):c.95370_95387del (p.Gly31791_Ser31796del)
NM_001267550.2(TTN):c.95372G>A (p.Gly31791Asp) rs869320744
NM_001267550.2(TTN):c.9577C>T (p.Arg3193Ter) rs746115846
NM_001267550.2(TTN):c.96901del (p.Arg32301fs)
NM_001267550.2(TTN):c.97492+1G>A rs727505319
NM_001267550.2(TTN):c.97492+1G>C rs727505319
NM_001267550.2(TTN):c.97492+1G>T rs727505319
NM_001267550.2(TTN):c.98994del (p.Lys32998fs) rs727504535
NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn) rs121964855
NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys) rs727503513
NM_001276345.2(TNNT2):c.311G>A (p.Arg104His) rs397516457
NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu) rs397516457
NM_001276345.2(TNNT2):c.316G>A (p.Glu106Lys) rs869312881
NM_001276345.2(TNNT2):c.321G>C (p.Lys107Asn)
NM_001276345.2(TNNT2):c.321G>T (p.Lys107Asn) rs397516459
NM_001276345.2(TNNT2):c.332A>G (p.Glu111Gly)
NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp) rs74315380
NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln) rs397516464
NM_001276345.2(TNNT2):c.430C>G (p.Arg144Gly) rs45525839
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.506G>A (p.Arg169Gln) rs45501500
NM_001276345.2(TNNT2):c.508GAG[3] (p.Glu173del) rs397516470
NM_001276345.2(TNNT2):c.517G>A (p.Glu173Lys) rs1558225569
NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp) rs727503512
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln) rs397516471
NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe) rs727504246
NM_001276345.2(TNNT2):c.616C>T (p.Arg206Trp) rs730881106
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp) rs45586240
NM_001276345.2(TNNT2):c.644G>A (p.Arg215Gln) rs121964860
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del) rs45578238
NM_001276345.2(TNNT2):c.851+1G>A rs111377893
NM_001276345.2(TNNT2):c.851+1G>C rs111377893
NM_001276345.2(TNNT2):c.851+1G>T rs111377893
NM_001276345.2(TNNT2):c.863G>C (p.Arg288Pro) rs397516484
NM_001276345.2(TNNT2):c.891G>A (p.Trp297Ter) rs730881116
NM_001289808.2(CRYAB):c.145del (p.Leu49fs) rs1965456387
NM_001289808.2(CRYAB):c.295G>T (p.Glu99Ter) rs1965414571
NM_001289808.2(CRYAB):c.76C>T (p.Gln26Ter) rs1965461881
NM_001347702.2(SYNE1):c.1473T>G (p.Tyr491Ter)
NM_001458.5(FLNC):c.1027A>T (p.Lys343Ter) rs745495679
NM_001458.5(FLNC):c.102G>A (p.Trp34Ter) rs2128932126
NM_001458.5(FLNC):c.1055_1056del (p.Val352fs)
NM_001458.5(FLNC):c.1069C>T (p.Gln357Ter) rs2128934390
NM_001458.5(FLNC):c.1092dup (p.Glu365Ter)
NM_001458.5(FLNC):c.1111dup (p.Ala371fs) rs2128934407
NM_001458.5(FLNC):c.1136C>G (p.Ser379Ter)
NM_001458.5(FLNC):c.1156G>T (p.Glu386Ter)
NM_001458.5(FLNC):c.1166dup (p.Asn390fs)
NM_001458.5(FLNC):c.1205del (p.Thr402fs) rs2128934432
NM_001458.5(FLNC):c.1206_1207dup (p.Ala403fs)
NM_001458.5(FLNC):c.123del (p.Phe42fs)
NM_001458.5(FLNC):c.1260del (p.Arg421fs) rs2128934500
NM_001458.5(FLNC):c.1315_1328del (p.Thr439fs)
NM_001458.5(FLNC):c.1343_1350del (p.His448fs)
NM_001458.5(FLNC):c.1374del (p.Ile459fs)
NM_001458.5(FLNC):c.1444C>T (p.Arg482Ter) rs1420159591
NM_001458.5(FLNC):c.1463del (p.Gly488fs) rs2128934867
NM_001458.5(FLNC):c.146_147insT (p.Leu50fs) rs2128932142
NM_001458.5(FLNC):c.147delinsTCT (p.Lys51fs) rs1562988883
NM_001458.5(FLNC):c.1503_1504dup (p.Lys502fs) rs2128934883
NM_001458.5(FLNC):c.1503del (p.Lys502fs)
NM_001458.5(FLNC):c.1519_1525del (p.Gly507fs) rs1554398092
NM_001458.5(FLNC):c.156dup (p.Val53fs) rs2128932148
NM_001458.5(FLNC):c.1589_1602del (p.Asp530fs)
NM_001458.5(FLNC):c.1593_1600del (p.Phe533fs)
NM_001458.5(FLNC):c.1605C>A (p.Cys535Ter) rs199976790
NM_001458.5(FLNC):c.1662C>A (p.Tyr554Ter) rs376975967
NM_001458.5(FLNC):c.1670del (p.Pro557fs) rs2128935054
NM_001458.5(FLNC):c.1730G>A (p.Trp577Ter) rs2128935124
NM_001458.5(FLNC):c.175dup (p.Asp59fs)
NM_001458.5(FLNC):c.1806_1809dup (p.Leu604fs)
NM_001458.5(FLNC):c.181C>T (p.Gln61Ter) rs2128932161
NM_001458.5(FLNC):c.1830dup (p.Pro611fs)
NM_001458.5(FLNC):c.1844dup (p.Ile616fs) rs1808318504
NM_001458.5(FLNC):c.1849G>T (p.Glu617Ter)
NM_001458.5(FLNC):c.1861_1885dup (p.Arg629fs) rs1585156327
NM_001458.5(FLNC):c.1866_1867del (p.Asp623fs)
NM_001458.5(FLNC):c.1890C>G (p.Tyr630Ter) rs2128935258
NM_001458.5(FLNC):c.1893G>A (p.Trp631Ter) rs1808320936
NM_001458.5(FLNC):c.1914C>G (p.Tyr638Ter) rs757352623
NM_001458.5(FLNC):c.1948C>T (p.Arg650Ter) rs770606675
NM_001458.5(FLNC):c.1965_1966del (p.Ala656fs) rs1585156450
NM_001458.5(FLNC):c.1991_1994del (p.Asp664fs) rs2128935287
NM_001458.5(FLNC):c.2048_2049del (p.Ile683fs) rs2128935347
NM_001458.5(FLNC):c.2065G>T (p.Glu689Ter) rs1446694237
NM_001458.5(FLNC):c.2084del (p.Arg695fs) rs1808334682
NM_001458.5(FLNC):c.2114_2115del (p.Tyr705fs)
NM_001458.5(FLNC):c.2119C>T (p.Gln707Ter) rs1808336992
NM_001458.5(FLNC):c.2145_2146dup (p.Ile716fs)
NM_001458.5(FLNC):c.2160del (p.Asn721fs)
NM_001458.5(FLNC):c.2190_2192del (p.Tyr730_Val731delinsTer)
NM_001458.5(FLNC):c.2234del (p.Gly745fs) rs1374893890
NM_001458.5(FLNC):c.2299del (p.Arg766_Val767insTer) rs2128935670
NM_001458.5(FLNC):c.234_235delinsTT (p.Gln79Ter)
NM_001458.5(FLNC):c.2385del (p.Gln796fs)
NM_001458.5(FLNC):c.2389+1G>T
NM_001458.5(FLNC):c.2389+2T>C rs112903432
NM_001458.5(FLNC):c.2390-10_2406del rs1554398674
NM_001458.5(FLNC):c.2432del (p.Gly811fs) rs776269505
NM_001458.5(FLNC):c.2499C>A (p.Tyr833Ter) rs1389742580
NM_001458.5(FLNC):c.2507del (p.Pro836fs) rs1808400111
NM_001458.5(FLNC):c.2508del (p.Ala838fs) rs1808400430
NM_001458.5(FLNC):c.2548C>T (p.Gln850Ter) rs1367760687
NM_001458.5(FLNC):c.2603_2604delinsT (p.Ser868fs) rs1808416556
NM_001458.5(FLNC):c.2604del (p.Ser868fs) rs2128935921
NM_001458.5(FLNC):c.2617G>T (p.Glu873Ter) rs771092335
NM_001458.5(FLNC):c.261del (p.Pro88fs) rs2128932217
NM_001458.5(FLNC):c.273del (p.Phe92fs)
NM_001458.5(FLNC):c.2743_2753del (p.Val914_Val915insTer) rs2128936006
NM_001458.5(FLNC):c.2754_2755insC (p.Glu919fs) rs2128936013
NM_001458.5(FLNC):c.2787del (p.Val930fs)
NM_001458.5(FLNC):c.2804_2807dup (p.Gln936fs)
NM_001458.5(FLNC):c.2816_2823dup (p.Val942fs) rs2128936072
NM_001458.5(FLNC):c.2838T>A (p.Tyr946Ter) rs769390195
NM_001458.5(FLNC):c.2846del (p.Asp949fs) rs2128936089
NM_001458.5(FLNC):c.2864_2865del (p.Pro955fs)
NM_001458.5(FLNC):c.2872del (p.Val957_Val958insTer) rs1401551498
NM_001458.5(FLNC):c.2905del (p.Ile969fs) rs2128936107
NM_001458.5(FLNC):c.2914C>T (p.Gln972Ter)
NM_001458.5(FLNC):c.2918del (p.Gly973fs)
NM_001458.5(FLNC):c.2930-1G>A
NM_001458.5(FLNC):c.2931_2938dup (p.Val980fs)
NM_001458.5(FLNC):c.2950C>T (p.Gln984Ter) rs769865678
NM_001458.5(FLNC):c.2971C>T (p.Arg991Ter) rs886037830
NM_001458.5(FLNC):c.2977del (p.Ala993fs)
NM_001458.5(FLNC):c.300_301dup (p.Ser101fs)
NM_001458.5(FLNC):c.3019del (p.Ser1007fs) rs2128936173
NM_001458.5(FLNC):c.3070C>T (p.Gln1024Ter) rs2128936189
NM_001458.5(FLNC):c.3084C>A (p.Tyr1028Ter) rs761978559
NM_001458.5(FLNC):c.3084del (p.Arg1027_Tyr1028insTer)
NM_001458.5(FLNC):c.3092del (p.Pro1031fs)
NM_001458.5(FLNC):c.3108C>A (p.Tyr1036Ter)
NM_001458.5(FLNC):c.3161_3174del (p.Val1054fs)
NM_001458.5(FLNC):c.3179del (p.Pro1060fs)
NM_001458.5(FLNC):c.3180del (p.Asp1061fs) rs1064795229
NM_001458.5(FLNC):c.3221dup (p.Gly1075fs) rs2128936346
NM_001458.5(FLNC):c.3307_3313del (p.Cys1103fs) rs2128936386
NM_001458.5(FLNC):c.338del (p.Lys113fs)
NM_001458.5(FLNC):c.3415del (p.His1139fs) rs1808489575
NM_001458.5(FLNC):c.3557C>T (p.Ala1186Val) rs1114167361
NM_001458.5(FLNC):c.3670_3671dup (p.Ile1226fs) rs1808505973
NM_001458.5(FLNC):c.3679dup (p.Thr1227fs)
NM_001458.5(FLNC):c.3695_3698del (p.Gly1232fs) rs2128936511
NM_001458.5(FLNC):c.3699del (p.Val1235fs) rs1808508148
NM_001458.5(FLNC):c.3702del (p.Val1235fs) rs2128936516
NM_001458.5(FLNC):c.3711del (p.Lys1237fs) rs2128936518
NM_001458.5(FLNC):c.3733_3737dup (p.Ala1247fs)
NM_001458.5(FLNC):c.3854del (p.Gly1285fs) rs1808550611
NM_001458.5(FLNC):c.3859_3866del (p.His1287fs)
NM_001458.5(FLNC):c.3863_3867dup (p.Ala1290Ter)
NM_001458.5(FLNC):c.3909T>A (p.Tyr1303Ter)
NM_001458.5(FLNC):c.3933_3937del (p.Tyr1312fs) rs1808555459
NM_001458.5(FLNC):c.3934_3937dup (p.Arg1313fs) rs1554399513
NM_001458.5(FLNC):c.3937C>T (p.Arg1313Ter) rs766330686
NM_001458.5(FLNC):c.3943C>T (p.Gln1315Ter)
NM_001458.5(FLNC):c.3944del (p.Gln1315fs)
NM_001458.5(FLNC):c.3949_3950del (p.Thr1317fs)
NM_001458.5(FLNC):c.4000_4015del (p.Ala1334fs)
NM_001458.5(FLNC):c.4021C>T (p.Arg1341Ter) rs1562998062
NM_001458.5(FLNC):c.4054del (p.Arg1352fs)
NM_001458.5(FLNC):c.4059_4060del (p.Arg1354fs)
NM_001458.5(FLNC):c.4060C>T (p.Arg1354Ter) rs138193236
NM_001458.5(FLNC):c.4071del (p.Pro1358fs)
NM_001458.5(FLNC):c.4108C>T (p.Arg1370Ter) rs1342121466
NM_001458.5(FLNC):c.4127+1G>T rs1346981294
NM_001458.5(FLNC):c.4192A>T (p.Lys1398Ter)
NM_001458.5(FLNC):c.420del (p.Tyr141fs)
NM_001458.5(FLNC):c.4275del (p.Arg1426fs)
NM_001458.5(FLNC):c.4275dup (p.Arg1426fs) rs756985550
NM_001458.5(FLNC):c.4321del (p.Val1441fs)
NM_001458.5(FLNC):c.4333_4336del (p.Gly1444_Lys1445insTer) rs1562998858
NM_001458.5(FLNC):c.4363_4375dup (p.Ala1459fs)
NM_001458.5(FLNC):c.4432C>T (p.Gln1478Ter) rs2128937285
NM_001458.5(FLNC):c.444G>A (p.Trp148Ter) rs1554397197
NM_001458.5(FLNC):c.4458del (p.Val1487fs)
NM_001458.5(FLNC):c.4510del (p.His1504fs)
NM_001458.5(FLNC):c.4557T>A (p.Tyr1519Ter) rs2128937364
NM_001458.5(FLNC):c.4564C>T (p.Gln1522Ter)
NM_001458.5(FLNC):c.4564del (p.Gln1522fs) rs2128937368
NM_001458.5(FLNC):c.4615G>A (p.Ala1539Thr) rs1562999443
NM_001458.5(FLNC):c.4621A>T (p.Lys1541Ter) rs1562999451
NM_001458.5(FLNC):c.4682del (p.Glu1561fs) rs2128937556
NM_001458.5(FLNC):c.4716del (p.Leu1573fs) rs1554400021
NM_001458.5(FLNC):c.4718T>A (p.Leu1573Ter) rs2128937575
NM_001458.5(FLNC):c.4729C>T (p.Gln1577Ter) rs1585163755
NM_001458.5(FLNC):c.4755del (p.Lys1586fs) rs2128937622
NM_001458.5(FLNC):c.4794C>A (p.Tyr1598Ter) rs1808681247
NM_001458.5(FLNC):c.4845del (p.Lys1615fs)
NM_001458.5(FLNC):c.486dup (p.Gln163fs) rs2128933653
NM_001458.5(FLNC):c.4926_4927insACGTCACA (p.Val1643fs) rs1402879259
NM_001458.5(FLNC):c.4946del (p.Gly1649fs) rs1282619643
NM_001458.5(FLNC):c.4959C>A (p.Cys1653Ter)
NM_001458.5(FLNC):c.4969C>T (p.Arg1657Ter) rs1563000044
NM_001458.5(FLNC):c.4984C>T (p.Gln1662Ter) rs1808708673
NM_001458.5(FLNC):c.5165del (p.Gly1722fs) rs1554400242
NM_001458.5(FLNC):c.5187del (p.Phe1730fs)
NM_001458.5(FLNC):c.531del (p.Ile178fs) rs2128933676
NM_001458.5(FLNC):c.5335G>T (p.Glu1779Ter) rs1808758208
NM_001458.5(FLNC):c.5360del (p.Leu1787fs)
NM_001458.5(FLNC):c.5389dup (p.Glu1797fs) rs2128938104
NM_001458.5(FLNC):c.5469_5482del (p.Val1824fs) rs1808778979
NM_001458.5(FLNC):c.5478T>G (p.Tyr1826Ter) rs371167779
NM_001458.5(FLNC):c.5520T>A (p.Tyr1840Ter) rs1808781579
NM_001458.5(FLNC):c.554G>A (p.Trp185Ter) rs1585151331
NM_001458.5(FLNC):c.5557del (p.Tyr1853fs) rs2128938355
NM_001458.5(FLNC):c.555G>A (p.Trp185Ter) rs2128933685
NM_001458.5(FLNC):c.5569_5578del (p.Ile1857fs) rs2128938360
NM_001458.5(FLNC):c.5613_5635del (p.Gly1872fs) rs2128938382
NM_001458.5(FLNC):c.563del (p.Gly188fs) rs2128933688
NM_001458.5(FLNC):c.5653A>T (p.Lys1885Ter) rs1563001456
NM_001458.5(FLNC):c.5665del (p.Glu1889fs) rs2128938391
NM_001458.5(FLNC):c.5669-1del rs1563001548
NM_001458.5(FLNC):c.5675_5678del (p.Leu1892fs) rs1585166614
NM_001458.5(FLNC):c.5676dup (p.Ser1893fs)
NM_001458.5(FLNC):c.5685del (p.Val1896fs) rs1808809268
NM_001458.5(FLNC):c.5697dup (p.Ser1900fs) rs1554400700
NM_001458.5(FLNC):c.5704del (p.Ala1902fs) rs1554400703
NM_001458.5(FLNC):c.5733dup (p.Gly1912fs) rs2128938455
NM_001458.5(FLNC):c.5754T>A (p.Tyr1918Ter) rs764539989
NM_001458.5(FLNC):c.5763del (p.Ala1922fs)
NM_001458.5(FLNC):c.5778C>G (p.Tyr1926Ter)
NM_001458.5(FLNC):c.577G>A (p.Ala193Thr) rs387906587
NM_001458.5(FLNC):c.5789_5790del (p.Val1930fs)
NM_001458.5(FLNC):c.581_600del (p.Leu194fs)
NM_001458.5(FLNC):c.5845_5848dup (p.Asp1950delinsGlyTer)
NM_001458.5(FLNC):c.5866C>T (p.Gln1956Ter) rs2128938768
NM_001458.5(FLNC):c.5889_5896dup (p.Ser1966fs)
NM_001458.5(FLNC):c.5904dup (p.Ile1969fs) rs1585167678
NM_001458.5(FLNC):c.5920_5921del (p.Leu1974fs)
NM_001458.5(FLNC):c.592_593del (p.Cys198fs) rs2128933700
NM_001458.5(FLNC):c.5983del (p.Arg1995fs) rs1808872966
NM_001458.5(FLNC):c.6009del (p.Ser2004fs)
NM_001458.5(FLNC):c.6031G>A (p.Gly2011Arg) rs1554400962
NM_001458.5(FLNC):c.6054dup (p.Lys2019fs)
NM_001458.5(FLNC):c.6071del (p.Val2024fs) rs2128938894
NM_001458.5(FLNC):c.609C>A (p.Cys203Ter) rs1455396332
NM_001458.5(FLNC):c.6160G>T (p.Gly2054Ter)
NM_001458.5(FLNC):c.6190dup (p.Val2064fs) rs1808888920
NM_001458.5(FLNC):c.6240_6259del (p.Pro2081fs) rs2128939085
NM_001458.5(FLNC):c.6242dup (p.Ser2082fs) rs1585168573
NM_001458.5(FLNC):c.627G>A (p.Trp209Ter)
NM_001458.5(FLNC):c.6339del (p.Lys2113fs)
NM_001458.5(FLNC):c.6345_6352del (p.Asp2116fs) rs1808918080
NM_001458.5(FLNC):c.6447del (p.Ile2150fs) rs1563003153
NM_001458.5(FLNC):c.6491G>A (p.Trp2164Ter) rs2128939246
NM_001458.5(FLNC):c.6496C>T (p.Gln2166Ter)
NM_001458.5(FLNC):c.6561_6564del (p.Thr2188fs)
NM_001458.5(FLNC):c.658del (p.Glu220fs) rs2128934070
NM_001458.5(FLNC):c.6634C>T (p.Gln2212Ter) rs2128939316
NM_001458.5(FLNC):c.664A>G (p.Met222Val) rs2128934074
NM_001458.5(FLNC):c.6663_6664del (p.Phe2222fs) rs2128939337
NM_001458.5(FLNC):c.670C>T (p.Gln224Ter)
NM_001458.5(FLNC):c.671del (p.Gln224fs) rs2128934076
NM_001458.5(FLNC):c.6721C>T (p.Gln2241Ter) rs2128939369
NM_001458.5(FLNC):c.6727+21_7065del
NM_001458.5(FLNC):c.6749_6758del (p.Met2250fs)
NM_001458.5(FLNC):c.6753_6754dup (p.Ala2252fs)
NM_001458.5(FLNC):c.6753dup (p.Ala2252fs) rs1808965674
NM_001458.5(FLNC):c.6770dup (p.Ser2258fs)
NM_001458.5(FLNC):c.6802G>T (p.Glu2268Ter) rs1156444972
NM_001458.5(FLNC):c.6812del (p.Asp2271fs)
NM_001458.5(FLNC):c.6835_6838del (p.Val2279fs)
NM_001458.5(FLNC):c.6841dup (p.Gln2281fs) rs2128939496
NM_001458.5(FLNC):c.6864_6867dup (p.Val2290fs) rs2128939508
NM_001458.5(FLNC):c.6883C>T (p.Gln2295Ter) rs1585169831
NM_001458.5(FLNC):c.6890dup (p.Pro2298fs)
NM_001458.5(FLNC):c.6907C>T (p.Gln2303Ter)
NM_001458.5(FLNC):c.6955del (p.Ala2319fs) rs2128939548
NM_001458.5(FLNC):c.6957del (p.Gly2320fs)
NM_001458.5(FLNC):c.6976C>T (p.Arg2326Ter) rs748416758
NM_001458.5(FLNC):c.697C>T (p.Gln233Ter) rs1554397464
NM_001458.5(FLNC):c.6982G>A (p.Val2328Met) rs2128939561
NM_001458.5(FLNC):c.6998_6999insATCT (p.Glu2334fs)
NM_001458.5(FLNC):c.7000G>T (p.Glu2334Ter)
NM_001458.5(FLNC):c.7014G>A (p.Trp2338Ter) rs2128939606
NM_001458.5(FLNC):c.7235_7236del (p.Thr2412fs)
NM_001458.5(FLNC):c.7251+1G>A rs1554401581
NM_001458.5(FLNC):c.7251+1G>T rs1554401581
NM_001458.5(FLNC):c.7261del (p.Leu2421fs) rs2128940107
NM_001458.5(FLNC):c.7273_7274insTTCAC (p.Gln2425fs)
NM_001458.5(FLNC):c.7294C>T (p.Gln2432Ter) rs1554401756
NM_001458.5(FLNC):c.7309dup (p.Arg2437fs) rs2128940130
NM_001458.5(FLNC):c.7338_7339del (p.Pro2447fs) rs1585171628
NM_001458.5(FLNC):c.7341del (p.Ser2448fs)
NM_001458.5(FLNC):c.7365C>A (p.Tyr2455Ter) rs540386120
NM_001458.5(FLNC):c.7371del (p.Glu2458fs) rs1554401780
NM_001458.5(FLNC):c.7414G>T (p.Glu2472Ter) rs948675422
NM_001458.5(FLNC):c.7495C>T (p.Gln2499Ter)
NM_001458.5(FLNC):c.7496_7497insTGCT (p.Gln2499fs) rs1554401830
NM_001458.5(FLNC):c.7510del (p.Asp2504fs) rs2128940259
NM_001458.5(FLNC):c.7526_7527delinsAG (p.Ser2509Ter) rs1809085817
NM_001458.5(FLNC):c.7536_7548del (p.Pro2513fs) rs1554401837
NM_001458.5(FLNC):c.7551_7552del (p.Gly2518fs)
NM_001458.5(FLNC):c.7562-1_7612dup
NM_001458.5(FLNC):c.7571del (p.Ser2523_Ser2524insTer) rs1809097778
NM_001458.5(FLNC):c.7660del (p.Glu2554fs) rs1809103569
NM_001458.5(FLNC):c.774del (p.Lys259fs) rs1554397506
NM_001458.5(FLNC):c.7750_7769dup (p.Lys2591fs) rs2128940399
NM_001458.5(FLNC):c.7757_7758delinsA (p.Ser2586fs) rs1809109008
NM_001458.5(FLNC):c.778del (p.Ala260fs)
NM_001458.5(FLNC):c.7841_7842del (p.Val2614fs) rs1554402003
NM_001458.5(FLNC):c.7929del (p.Leu2645fs) rs1554402015
NM_001458.5(FLNC):c.794del (p.Gly265fs) rs2128934191
NM_001458.5(FLNC):c.7980C>A (p.Cys2660Ter) rs2128940614
NM_001458.5(FLNC):c.801del (p.Val268fs) rs2128934193
NM_001458.5(FLNC):c.8028del (p.Thr2677fs)
NM_001458.5(FLNC):c.804del (p.Arg269fs)
NM_001458.5(FLNC):c.8051del (p.Val2684fs) rs1809161384
NM_001458.5(FLNC):c.805C>T (p.Arg269Ter) rs755583250
NM_001458.5(FLNC):c.8076C>A (p.Tyr2692Ter) rs1563006133
NM_001458.5(FLNC):c.8103_8104del (p.Asp2703fs)
NM_001458.5(FLNC):c.8107del (p.Asp2703fs) rs1563006160
NM_001458.5(FLNC):c.8110_8111insC (p.Tyr2704fs)
NM_001458.5(FLNC):c.8129G>A (p.Trp2710Ter) rs1585173340
NM_001458.5(FLNC):c.8130G>A (p.Trp2710Ter) rs121909518
NM_001458.5(FLNC):c.901C>T (p.Gln301Ter)
NM_001458.5(FLNC):c.964G>T (p.Glu322Ter) rs1417082178
NM_001458.5(FLNC):c.985_986dup (p.Asn329fs)
NM_001927.4(DES):c.1013T>G (p.Leu338Arg) rs57496341
NM_001927.4(DES):c.1013_1014delinsGC (p.Leu338Arg)
NM_001927.4(DES):c.1024A>G (p.Asn342Asp) rs267607482
NM_001927.4(DES):c.1034T>C (p.Leu345Pro) rs57639980
NM_001927.4(DES):c.1043A>C (p.Gln348Pro) rs1411703397
NM_001927.4(DES):c.1049G>C (p.Arg350Pro) rs57965306
NM_001927.4(DES):c.1090C>T (p.Gln364Ter) rs1224165687
NM_001927.4(DES):c.1109T>C (p.Leu370Pro) rs59308628
NM_001927.4(DES):c.112del (p.Ala38fs) rs2125165857
NM_001927.4(DES):c.1132_1153del (p.Lys378fs) rs1575014943
NM_001927.4(DES):c.1171del (p.Leu391fs)
NM_001927.4(DES):c.119dup (p.Gly41fs)
NM_001927.4(DES):c.1203G>C (p.Glu401Asp) rs2125168897
NM_001927.4(DES):c.1213del (p.Tyr405fs) rs886043080
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) rs121913003
NM_001927.4(DES):c.1255C>T (p.Pro419Ser) rs62635763
NM_001927.4(DES):c.1256C>T (p.Pro419Leu) rs796667045
NM_001927.4(DES):c.1325C>T (p.Thr442Ile) rs121913005
NM_001927.4(DES):c.1346A>C (p.Lys449Thr) rs267607485
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_001927.4(DES):c.163C>T (p.Gln55Ter)
NM_001927.4(DES):c.194dup (p.Leu66fs) rs1370206753
NM_001927.4(DES):c.249C>A (p.Tyr83Ter)
NM_001927.4(DES):c.300dup (p.Phe101fs)
NM_001927.4(DES):c.309del (p.Thr104fs) rs2125166200
NM_001927.4(DES):c.343C>A (p.Leu115Ile)
NM_001927.4(DES):c.346_350delinsTAGT (p.Asn116_Asp117delinsTer)
NM_001927.4(DES):c.347A>G (p.Asn116Ser) rs267607499
NM_001927.4(DES):c.35C>T (p.Ser12Phe) rs267607495
NM_001927.4(DES):c.373A>T (p.Lys125Ter) rs886043000
NM_001927.4(DES):c.38C>T (p.Ser13Phe) rs62636495
NM_001927.4(DES):c.394C>T (p.Gln132Ter) rs1060503165
NM_001927.4(DES):c.452_459del (p.Val151fs) rs2125166454
NM_001927.4(DES):c.514C>T (p.Gln172Ter) rs1559352440
NM_001927.4(DES):c.525_526del (p.Val176fs) rs769096434
NM_001927.4(DES):c.525_526dup (p.Val176fs)
NM_001927.4(DES):c.549_564del (p.Leu184fs)
NM_001927.4(DES):c.599T>A (p.Leu200Ter) rs2125167364
NM_001927.4(DES):c.5G>T (p.Ser2Ile) rs58999456
NM_001927.4(DES):c.735+1G>A rs397516698
NM_001927.4(DES):c.735+1G>T rs397516698
NM_001927.4(DES):c.735+3A>G rs267607483
NM_001927.4(DES):c.769C>T (p.Gln257Ter)
NM_001927.4(DES):c.7C>T (p.Gln3Ter) rs1954358233
NM_001927.4(DES):c.973C>T (p.Arg325Ter) rs959034410
NM_001927.4(DES):c.985C>T (p.Gln329Ter) rs759320891
NM_001943.4(DSG2):c.1015del rs794728094
NM_001943.5(DSG2):c.1027G>T (p.Glu343Ter) rs1555627108
NM_001943.5(DSG2):c.1053_1056dup (p.Ile353fs) rs2144332585
NM_001943.5(DSG2):c.11_12insGCGAGGGTGCGATGGCACGGAG (p.Ser4fs)
NM_001943.5(DSG2):c.1319_1320del (p.Val440fs) rs775256998
NM_001943.5(DSG2):c.136C>T (p.Arg46Trp) rs752522753
NM_001943.5(DSG2):c.1385del (p.Asn462fs)
NM_001943.5(DSG2):c.1433dup (p.Thr480fs)
NM_001943.5(DSG2):c.146G>A (p.Arg49His) rs121913006
NM_001943.5(DSG2):c.1487dup (p.Cys496fs) rs730880347
NM_001943.5(DSG2):c.1672C>T (p.Gln558Ter) rs1375012922
NM_001943.5(DSG2):c.1689del (p.Arg565fs)
NM_001943.5(DSG2):c.1705C>T (p.Gln569Ter) rs2144346522
NM_001943.5(DSG2):c.1759dup (p.Thr587fs)
NM_001943.5(DSG2):c.1773_1774del (p.Cys591_Glu592delinsTer) rs397516703
NM_001943.5(DSG2):c.1801del (p.Glu601fs)
NM_001943.5(DSG2):c.1826dup (p.Leu610fs) rs1039633976
NM_001943.5(DSG2):c.1880-2A>G rs397514038
NM_001943.5(DSG2):c.2257del (p.Ala753fs) rs1567933176
NM_001943.5(DSG2):c.2321del (p.Asn774fs)
NM_001943.5(DSG2):c.2343_2344insAAGA (p.Ser782fs) rs1252006527
NM_001943.5(DSG2):c.2372_2373del (p.Thr791fs) rs794728098
NM_001943.5(DSG2):c.2397T>G (p.Tyr799Ter) rs200201181
NM_001943.5(DSG2):c.2480_2712del (p.Asp827fs) rs2144359029
NM_001943.5(DSG2):c.2533del (p.Lys844_Ile845insTer) rs1375081885
NM_001943.5(DSG2):c.2551del (p.Ile851fs) rs763907170
NM_001943.5(DSG2):c.2554G>T (p.Glu852Ter)
NM_001943.5(DSG2):c.2617C>T (p.Gln873Ter)
NM_001943.5(DSG2):c.2620del (p.Thr874fs) rs755243947
NM_001943.5(DSG2):c.2761_2764dup (p.Thr922fs) rs1567934720
NM_001943.5(DSG2):c.27C>A (p.Tyr9Ter) rs1452179158
NM_001943.5(DSG2):c.2817del (p.Tyr940fs) rs1567934773
NM_001943.5(DSG2):c.2875_2876del (p.Gln959fs) rs727502990
NM_001943.5(DSG2):c.290del (p.Pro97fs)
NM_001943.5(DSG2):c.2923del (p.Leu974_Val975insTer) rs794728084
NM_001943.5(DSG2):c.2955del (p.Val986fs) rs1064794709
NM_001943.5(DSG2):c.2990del (p.Gly997fs) rs1252426323
NM_001943.5(DSG2):c.3052dup (p.Glu1018fs) rs1261674855
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs) rs397516706
NM_001943.5(DSG2):c.307_308del (p.Val103fs) rs1555671201
NM_001943.5(DSG2):c.361G>T (p.Glu121Ter)
NM_001943.5(DSG2):c.423del (p.Lys141fs) rs2073125384
NM_001943.5(DSG2):c.464_465insT (p.Glu156fs) rs794728091
NM_001943.5(DSG2):c.495dup (p.Gly166fs) rs781532110
NM_001943.5(DSG2):c.498del (p.Ser167fs)
NM_001943.5(DSG2):c.505G>T (p.Glu169Ter)
NM_001943.5(DSG2):c.512_516del (p.Leu171fs) rs1568105371
NM_001943.5(DSG2):c.523+1G>A rs553299589
NM_001943.5(DSG2):c.523+1G>C rs553299589
NM_001943.5(DSG2):c.527_533del (p.Thr176fs) rs2144317658
NM_001943.5(DSG2):c.613_658dup (p.Ile220delinsThrCysLeuSerSerSerValLeuProLysTer) rs2144317934
NM_001943.5(DSG2):c.621_626del (p.Tyr207_Pro209delinsTer) rs1555671331
NM_001943.5(DSG2):c.630del (p.Phe211fs)
NM_001943.5(DSG2):c.649dup (p.Thr217fs) rs1598811394
NM_001943.5(DSG2):c.676_680del (p.Thr226fs) rs2144318119
NM_001943.5(DSG2):c.745dup (p.Thr249fs) rs2073148989
NM_001943.5(DSG2):c.803_810dup (p.Val271fs) rs2073149649
NM_001943.5(DSG2):c.853C>T (p.Gln285Ter)
NM_001943.5(DSG2):c.871dup (p.Thr291fs) rs759944835
NM_001943.5(DSG2):c.882dup (p.Val295fs) rs1187924885
NM_001943.5(DSG2):c.909del (p.Asp304fs) rs2144322985
NM_001943.5(DSG2):c.912_941delinsAATTGGCTGGCAAATTTTACATTTGAAATGAAGGAGGTTATTTCCTTCATTTGAATTGGCTGGCAAATTTTACATTTGAAATGA (p.Asp304_Ser314delinsGluIleGlyTrpGlnIleLeuHisLeuLysTer)
NM_001943.5(DSG2):c.917G>A (p.Trp306Ter) rs2144323019
NM_001943.5(DSG2):c.918G>A (p.Trp306Ter) rs121913007
NM_001943.5(DSG2):c.91del (p.Thr31fs) rs758282201
NM_001985.3(ETFB):c.178G>T (p.Glu60Ter)
NM_001985.3(ETFB):c.253C>T (p.Arg85Ter) rs187424345
NM_001985.3(ETFB):c.362del (p.Leu121fs)
NM_001985.3(ETFB):c.386dup (p.Asp129fs)
NM_001985.3(ETFB):c.406C>T (p.Gln136Ter)
NM_001985.3(ETFB):c.426_427insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCTCCTGACCTCTAGATCCACCCGCCTCGGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGACAGCTGGATTTCTT (p.Asp143delinsPhePhePhePhePhePheXaaXaaXaaXaaSerProAspLeuTer) rs2123580195
NM_001985.3(ETFB):c.454C>T (p.Gln152Ter)
NM_001985.3(ETFB):c.61C>T (p.Arg21Ter)
NM_001985.3(ETFB):c.61del (p.Arg21fs)
NM_002230.4(JUP):c.1121G>A (p.Trp374Ter)
NM_002230.4(JUP):c.1205_1206del (p.Val402fs)
NM_002230.4(JUP):c.1258_1261del (p.Cys420fs)
NM_002230.4(JUP):c.1455_1462del (p.Val486fs) rs1597801392
NM_002230.4(JUP):c.1639C>T (p.Gln547Ter) rs2143456924
NM_002230.4(JUP):c.1807del (p.Val603fs) rs1597782553
NM_002230.4(JUP):c.1870G>T (p.Glu624Ter) rs2143426682
NM_002230.4(JUP):c.1876dup (p.Ala626fs)
NM_002230.4(JUP):c.188del (p.Gln63fs) rs1555606936
NM_002230.4(JUP):c.2038_2039del (p.Trp680fs) rs113994177
NM_002230.4(JUP):c.2039G>A (p.Trp680Ter) rs2143416425
NM_002230.4(JUP):c.222C>G (p.Tyr74Ter) rs2143697976
NM_002230.4(JUP):c.532_542del (p.Ala178fs) rs2143683612
NM_002230.4(JUP):c.545C>A (p.Ser182Ter) rs145592971
NM_002230.4(JUP):c.654del (p.Leu219fs) rs2143680611
NM_002230.4(JUP):c.687del (p.Ala230fs)
NM_002230.4(JUP):c.781_796del (p.Lys261fs) rs2143651415
NM_002230.4(JUP):c.873C>A (p.Cys291Ter)
NM_002230.4(JUP):c.916del (p.Ile306fs)
NM_002471.4(MYH6):c.1410+1G>A rs1566513862
NM_002471.4(MYH6):c.4034T>C (p.Leu1345Pro)
NM_002633.3(PGM1):c.1086dup (p.Gly363fs) rs1170935238
NM_002633.3(PGM1):c.1091del (p.Asn364fs) rs1557437034
NM_002633.3(PGM1):c.112A>T (p.Asn38Tyr) rs587777402
NM_002633.3(PGM1):c.119del (p.Ile40fs)
NM_002633.3(PGM1):c.1378_1379del (p.Ala461fs) rs763428801
NM_002633.3(PGM1):c.1474del (p.Leu492fs) rs1376645472
NM_002633.3(PGM1):c.1500del (p.Ile500fs)
NM_002633.3(PGM1):c.157_158delinsG (p.Gln53fs) rs1647935062
NM_002633.3(PGM1):c.28_37del (p.Gln10fs) rs759220275
NM_002633.3(PGM1):c.511G>T (p.Gly171Ter)
NM_002633.3(PGM1):c.661del (p.Arg221fs) rs587777405
NM_002633.3(PGM1):c.877C>T (p.Arg293Ter)
NM_002633.3(PGM1):c.87_88del (p.Phe29fs) rs1570463842
NM_002633.3(PGM1):c.929_930del (p.Val310fs) rs2100988650
NM_002633.3(PGM1):c.946_997dup (p.Arg333fs)
NM_002667.4(PLN):c.-97-?_*1344+?del
NM_002667.5(PLN):c.105_106del (p.Phe35fs)
NM_002667.5(PLN):c.25C>T (p.Arg9Cys) rs111033559
NM_002667.5(PLN):c.26_29dup (p.Ala11fs) rs1779066083
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del) rs397516784
NM_002667.5(PLN):c.63_64dup (p.Gln22fs) rs794729138
NM_002667.5(PLN):c.85C>T (p.Gln29Ter) rs1779072006
NM_002667.5(PLN):c.95_98del (p.Phe32fs) rs2114970035
NM_002667.5(PLN):c.9dup (p.Val4fs) rs2114969441
NM_003140.3(SRY):c.145G>T (p.Gly49Ter)
NM_003140.3(SRY):c.169C>T (p.Gln57Ter) rs1603308308
NM_003140.3(SRY):c.174_175insC (p.Arg59fs)
NM_003140.3(SRY):c.203T>C (p.Ile68Thr) rs104894968
NM_003140.3(SRY):c.263C>A (p.Ser88Ter) rs1556370558
NM_003140.3(SRY):c.264dup (p.Glu89fs) rs1556370556
NM_003140.3(SRY):c.288C>G (p.Tyr96Ter) rs1556370548
NM_003140.3(SRY):c.380A>G (p.Tyr127Cys) rs104894973
NM_003280.3(TNNC1):c.91G>T (p.Ala31Ser) rs397514616
NM_003319.4(TTN):c.63060_63061del (p.Thr21020_Cys21021insTer) rs773840992
NM_003476.5(CSRP3):c.111C>A (p.Cys37Ter) rs1850628800
NM_003476.5(CSRP3):c.186T>G (p.Tyr62Ter)
NM_003476.5(CSRP3):c.279del (p.Gln93fs)
NM_003476.5(CSRP3):c.286_287del (p.Pro96fs) rs960577385
NM_003476.5(CSRP3):c.373A>T (p.Lys125Ter) rs1554967541
NM_003476.5(CSRP3):c.377C>A (p.Ser126Ter)
NM_003476.5(CSRP3):c.377C>G (p.Ser126Ter) rs1850523074
NM_003476.5(CSRP3):c.50_51insGCAGATTTCTT (p.Tyr18fs) rs1336937886
NM_003673.4(TCAP):c.103G>T (p.Glu35Ter) rs779699520
NM_003673.4(TCAP):c.110+2T>C
NM_003673.4(TCAP):c.110+5G>A rs794729178
NM_003673.4(TCAP):c.110_110+1del rs786205076
NM_003673.4(TCAP):c.136_137del (p.Gln46fs) rs2057249899
NM_003673.4(TCAP):c.151_154del (p.Tyr51fs)
NM_003673.4(TCAP):c.166C>T (p.Gln56Ter) rs1435437660
NM_003673.4(TCAP):c.26_33dup (p.Glu12fs) rs778568339
NM_003673.4(TCAP):c.34del (p.Glu12fs) rs1555606959
NM_003673.4(TCAP):c.34dup (p.Glu12fs) rs1555606959
NM_003673.4(TCAP):c.43_49dup (p.Arg17delinsLeuTer) rs886044421
NM_003673.4(TCAP):c.45_46del (p.Cys15_Glu16delinsTer)
NM_003673.4(TCAP):c.472C>A (p.Arg158Ser) rs397516863
NM_003673.4(TCAP):c.50_51dup (p.Arg18fs)
NM_004100.5(EYA4):c.1221_1225del (p.Arg408fs) rs1562498114
NM_004100.5(EYA4):c.1291C>T (p.Gln431Ter)
NM_004100.5(EYA4):c.1416_1417del (p.Gly473fs)
NM_004100.5(EYA4):c.1472del (p.Leu491fs)
NM_004100.5(EYA4):c.1574G>A (p.Trp525Ter)
NM_004100.5(EYA4):c.1759C>T (p.Arg587Ter) rs1554275988
NM_004100.5(EYA4):c.1776dup (p.Gly593fs)
NM_004100.5(EYA4):c.211G>T (p.Glu71Ter)
NM_004100.5(EYA4):c.223_224del (p.Val75fs)
NM_004100.5(EYA4):c.242G>A (p.Trp81Ter)
NM_004100.5(EYA4):c.511G>C (p.Gly171Arg)
NM_004100.5(EYA4):c.579C>G (p.Tyr193Ter)
NM_004100.5(EYA4):c.61del (p.Val21fs)
NM_004100.5(EYA4):c.67C>T (p.Gln23Ter) rs1293420539
NM_004100.5(EYA4):c.832C>T (p.Gln278Ter) rs2128674457
NM_004281.4(BAG3):c.1009dup (p.Ile337fs)
NM_004281.4(BAG3):c.1013dup (p.Ile339fs)
NM_004281.4(BAG3):c.1031_1032del (p.Lys344fs) rs1847237761
NM_004281.4(BAG3):c.1057C>T (p.Gln353Ter) rs1847238300
NM_004281.4(BAG3):c.1057del (p.Gln353fs) rs2134068813
NM_004281.4(BAG3):c.1067del (p.Pro356fs) rs727505109
NM_004281.4(BAG3):c.1067dup (p.Pro357fs)
NM_004281.4(BAG3):c.1088_1708del (p.Glu363_Pro569del) rs2134068860
NM_004281.4(BAG3):c.108G>A (p.Trp36Ter) rs1846844070
NM_004281.4(BAG3):c.1161dup (p.Lys388fs) rs1554877765
NM_004281.4(BAG3):c.1240G>T (p.Glu414Ter) rs117749531
NM_004281.4(BAG3):c.1292dup (p.Val432fs) rs886039182
NM_004281.4(BAG3):c.1296_1297inv (p.Gln433Ter)
NM_004281.4(BAG3):c.1326dup (p.Glu443Ter) rs2134069217
NM_004281.4(BAG3):c.1348A>T (p.Lys450Ter) rs765426544
NM_004281.4(BAG3):c.1353C>A (p.Tyr451Ter) rs2134069248
NM_004281.4(BAG3):c.1363G>A (p.Glu455Lys) rs397516881
NM_004281.4(BAG3):c.1408C>T (p.Pro470Ser) rs756020699
NM_004281.4(BAG3):c.1414G>T (p.Gly472Ter)
NM_004281.4(BAG3):c.146G>A (p.Trp49Ter) rs1564767043
NM_004281.4(BAG3):c.147G>A (p.Trp49Ter)
NM_004281.4(BAG3):c.160del (p.Val54fs)
NM_004281.4(BAG3):c.165del (p.Ser56fs) rs2134050674
NM_004281.4(BAG3):c.206dup (p.Ser70fs) rs1554876984
NM_004281.4(BAG3):c.258C>A (p.Tyr86Ter)
NM_004281.4(BAG3):c.258C>G (p.Tyr86Ter) rs1554876999
NM_004281.4(BAG3):c.262C>T (p.Gln88Ter) rs1554877001
NM_004281.4(BAG3):c.268C>T (p.Arg90Ter) rs1057517945
NM_004281.4(BAG3):c.277dup (p.Tyr93fs) rs1564773589
NM_004281.4(BAG3):c.280_284dup (p.Ile96fs)
NM_004281.4(BAG3):c.329dup (p.His112fs) rs1344275862
NM_004281.4(BAG3):c.331_332del (p.Phe111fs) rs2134063372
NM_004281.4(BAG3):c.346C>T (p.Gln116Ter)
NM_004281.4(BAG3):c.351_352insTGGATGCAGCGATTCCGAACTGAGGCGGCAGCAGCGGCTCCTCAGAGGTCCCAGTCACCTCTGCGGGGCATGCCAGAAACCACTCAGCCAGATAAACAGCGTGGACAGGTGGCAGCGGCGGCGGCAGCCCAGCCCCCAGCCT (p.Gly118fs)
NM_004281.4(BAG3):c.358C>T (p.Gln120Ter)
NM_004281.4(BAG3):c.361C>T (p.Arg121Ter) rs2134063421
NM_004281.4(BAG3):c.36_40del (p.Ala13fs)
NM_004281.4(BAG3):c.38_39dup (p.Ser14fs) rs2134050486
NM_004281.4(BAG3):c.403C>T (p.Gln135Ter) rs1847126002
NM_004281.4(BAG3):c.434_437del (p.Thr145fs)
NM_004281.4(BAG3):c.448C>T (p.Gln150Ter)
NM_004281.4(BAG3):c.448_449del (p.Gln150fs)
NM_004281.4(BAG3):c.457C>T (p.Gln153Ter) rs1474660052
NM_004281.4(BAG3):c.488del (p.Pro163fs) rs1847128695
NM_004281.4(BAG3):c.514C>T (p.Gln172Ter) rs1589630001
NM_004281.4(BAG3):c.530_531del (p.Ala176_Ser177insTer) rs2134064943
NM_004281.4(BAG3):c.537C>A (p.Cys179Ter) rs1564774433
NM_004281.4(BAG3):c.598C>T (p.Gln200Ter) rs2134065052
NM_004281.4(BAG3):c.607dup (p.Arg203fs) rs1554877224
NM_004281.4(BAG3):c.612del (p.Tyr205fs) rs2134065084
NM_004281.4(BAG3):c.625C>T (p.Pro209Ser) rs1589630141
NM_004281.4(BAG3):c.626C>A (p.Pro209Gln) rs121918312
NM_004281.4(BAG3):c.626C>T (p.Pro209Leu) rs121918312
NM_004281.4(BAG3):c.640C>T (p.Gln214Ter) rs2134065136
NM_004281.4(BAG3):c.654del (p.Pro219fs) rs2134065158
NM_004281.4(BAG3):c.699C>A (p.Tyr233Ter) rs876661342
NM_004281.4(BAG3):c.720C>G (p.Tyr240Ter)
NM_004281.4(BAG3):c.727dup (p.His243fs)
NM_004281.4(BAG3):c.72del (p.Gly25fs) rs727502897
NM_004281.4(BAG3):c.72dup (p.Gly25fs) rs727502897
NM_004281.4(BAG3):c.730C>T (p.Gln244Ter) rs876657634
NM_004281.4(BAG3):c.751C>T (p.Gln251Ter) rs1343231277
NM_004281.4(BAG3):c.751del (p.Gln251fs) rs1847165958
NM_004281.4(BAG3):c.765G>A (p.Trp255Ter) rs1564774668
NM_004281.4(BAG3):c.766G>T (p.Glu256Ter) rs2134065278
NM_004281.4(BAG3):c.77G>A (p.Trp26Ter) rs1554875409
NM_004281.4(BAG3):c.803C>A (p.Ser268Ter)
NM_004281.4(BAG3):c.811C>T (p.Gln271Ter) rs2134065350
NM_004281.4(BAG3):c.824del (p.Ser275fs) rs2134065363
NM_004281.4(BAG3):c.855_859dup (p.Leu287fs) rs1057518511
NM_004281.4(BAG3):c.907C>T (p.Gln303Ter)
NM_004281.4(BAG3):c.910C>T (p.Gln304Ter) rs2134068635
NM_004281.4(BAG3):c.925C>T (p.Arg309Ter) rs869248137
NM_004281.4(BAG3):c.946C>T (p.Gln316Ter) rs1847236072
NM_004281.4(BAG3):c.969_972del (p.Lys324fs) rs1589632398
NM_004281.4(BAG3):c.96_97del (p.Gln33fs)
NM_004281.4(BAG3):c.974del (p.Pro325fs) rs1847236575
NM_004415.2(DSP):c.2131_2132del rs587782927
NM_004415.2(DSP):c.5671_*1792delinsAGAGAAGAACAGTCTT
NM_004415.4(DSP):c.1003del (p.Gln335fs) rs2113671104
NM_004415.4(DSP):c.1009_1010dup (p.Leu338fs) rs2113671123
NM_004415.4(DSP):c.1042G>T (p.Glu348Ter)
NM_004415.4(DSP):c.1060_1061del (p.Leu354fs) rs1249913357
NM_004415.4(DSP):c.1080G>A (p.Trp360Ter) rs2113672480
NM_004415.4(DSP):c.1087C>T (p.Gln363Ter) rs778856526
NM_004415.4(DSP):c.1099_1100del (p.Cys367fs) rs2113672514
NM_004415.4(DSP):c.1119del (p.Glu374fs)
NM_004415.4(DSP):c.1146del (p.Phe382fs) rs397516913
NM_004415.4(DSP):c.1162del (p.Thr388fs) rs1554106742
NM_004415.4(DSP):c.1182del (p.Leu395fs) rs1554106743
NM_004415.4(DSP):c.1186del (p.Gln396fs) rs2113673178
NM_004415.4(DSP):c.1209C>A (p.Tyr403Ter) rs2113673248
NM_004415.4(DSP):c.1209C>G (p.Tyr403Ter)
NM_004415.4(DSP):c.1215C>A (p.Cys405Ter)
NM_004415.4(DSP):c.1234C>T (p.Gln412Ter) rs1758912749
NM_004415.4(DSP):c.123C>G (p.Tyr41Ter) rs1057523045
NM_004415.4(DSP):c.1249C>T (p.Gln417Ter)
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter) rs397516915
NM_004415.4(DSP):c.1276G>T (p.Glu426Ter)
NM_004415.4(DSP):c.1282dup (p.Ile428fs) rs1561687796
NM_004415.4(DSP):c.1288G>T (p.Glu430Ter) rs761380979
NM_004415.4(DSP):c.1293del (p.Glu430_Tyr431insTer) rs2113674180
NM_004415.4(DSP):c.1339C>T (p.Gln447Ter) rs2113674300
NM_004415.4(DSP):c.1351C>G (p.Arg451Gly) rs1057518309
NM_004415.4(DSP):c.1386_1389del (p.Leu463fs)
NM_004415.4(DSP):c.1411_1412insT (p.Gln471fs) rs1581802715
NM_004415.4(DSP):c.1438dup (p.Asp480fs)
NM_004415.4(DSP):c.1439del (p.Asp480fs) rs2113675360
NM_004415.4(DSP):c.1441G>T (p.Glu481Ter)
NM_004415.4(DSP):c.1445_1446del (p.Cys482fs)
NM_004415.4(DSP):c.1479G>A (p.Trp493Ter) rs1758962311
NM_004415.4(DSP):c.1523_1524del (p.Val508fs)
NM_004415.4(DSP):c.1582del (p.Gln528fs) rs2113677263
NM_004415.4(DSP):c.1609_1610del (p.Trp537fs)
NM_004415.4(DSP):c.1611G>A (p.Trp537Ter) rs794728114
NM_004415.4(DSP):c.1656C>G (p.Tyr552Ter) rs1759011966
NM_004415.4(DSP):c.1680del (p.Arg561fs)
NM_004415.4(DSP):c.1691C>T (p.Thr564Ile) rs606231295
NM_004415.4(DSP):c.1708del (p.Thr570fs)
NM_004415.4(DSP):c.1710_1711del (p.Met571fs) rs2113678808
NM_004415.4(DSP):c.1762C>T (p.Gln588Ter) rs1581805658
NM_004415.4(DSP):c.1789T>C (p.Ser597Pro)
NM_004415.4(DSP):c.1825C>T (p.Gln609Ter) rs1561690319
NM_004415.4(DSP):c.1831C>T (p.Gln611Ter) rs1581805788
NM_004415.4(DSP):c.1846C>T (p.Gln616Ter)
NM_004415.4(DSP):c.1857C>A (p.Tyr619Ter) rs1554107097
NM_004415.4(DSP):c.1873C>T (p.Gln625Ter) rs876657638
NM_004415.4(DSP):c.1883del (p.Gly628fs) rs1060500613
NM_004415.4(DSP):c.1897C>T (p.Gln633Ter) rs1464886350
NM_004415.4(DSP):c.1941dup (p.Asp648fs) rs2113679761
NM_004415.4(DSP):c.1978_1979del (p.Glu660fs)
NM_004415.4(DSP):c.2000G>A (p.Trp667Ter) rs760214732
NM_004415.4(DSP):c.2011G>T (p.Glu671Ter) rs2113679972
NM_004415.4(DSP):c.2060del (p.Thr687fs) rs2113680129
NM_004415.4(DSP):c.2068_2069del (p.Asn690fs)
NM_004415.4(DSP):c.2086del (p.Gln696fs)
NM_004415.4(DSP):c.2149del (p.Gln717fs) rs2113682999
NM_004415.4(DSP):c.214C>T (p.Gln72Ter) rs397516923
NM_004415.4(DSP):c.2166del (p.Leu723fs)
NM_004415.4(DSP):c.2179A>T (p.Lys727Ter)
NM_004415.4(DSP):c.2181dup (p.Asp728fs)
NM_004415.4(DSP):c.2185_2186del (p.Met729fs)
NM_004415.4(DSP):c.2185dup (p.Met729fs) rs2113683109
NM_004415.4(DSP):c.2223T>G (p.Tyr741Ter) rs2113683217
NM_004415.4(DSP):c.2227C>T (p.Gln743Ter)
NM_004415.4(DSP):c.2236del (p.Val746fs) rs1759155407
NM_004415.4(DSP):c.2276_2277insA (p.Thr760fs)
NM_004415.4(DSP):c.2278dup (p.Thr760fs)
NM_004415.4(DSP):c.2311del (p.Arg771fs)
NM_004415.4(DSP):c.2323C>T (p.Gln775Ter) rs1581809567
NM_004415.4(DSP):c.2351T>A (p.Leu784Ter) rs2113684096
NM_004415.4(DSP):c.2390_2393del (p.Val797fs) rs754566092
NM_004415.4(DSP):c.247_248del (p.Met83fs)
NM_004415.4(DSP):c.2497C>T (p.Gln833Ter) rs1561693779
NM_004415.4(DSP):c.2498dup (p.Lys834fs) rs1759204244
NM_004415.4(DSP):c.250C>T (p.Arg84Ter) rs768521444
NM_004415.4(DSP):c.2521C>T (p.Gln841Ter)
NM_004415.4(DSP):c.2528C>G (p.Ser843Ter)
NM_004415.4(DSP):c.2530C>T (p.Gln844Ter)
NM_004415.4(DSP):c.2533C>T (p.Gln845Ter) rs2113685159
NM_004415.4(DSP):c.2538T>A (p.Tyr846Ter)
NM_004415.4(DSP):c.2602C>T (p.Gln868Ter) rs1060500618
NM_004415.4(DSP):c.2616dup (p.Gln873fs)
NM_004415.4(DSP):c.2617C>T (p.Gln873Ter) rs794728118
NM_004415.4(DSP):c.2637G>A (p.Trp879Ter) rs2113686447
NM_004415.4(DSP):c.2644G>T (p.Glu882Ter) rs730880081
NM_004415.4(DSP):c.2650C>T (p.Gln884Ter) rs2113686466
NM_004415.4(DSP):c.2652_2653del (p.Gln884fs)
NM_004415.4(DSP):c.2655del (p.Lys886fs) rs2113686478
NM_004415.4(DSP):c.2703G>A (p.Trp901Ter)
NM_004415.4(DSP):c.2706_2707del (p.Leu902_Tyr903insTer) rs1759240256
NM_004415.4(DSP):c.2725C>T (p.Gln909Ter) rs1561694696
NM_004415.4(DSP):c.2735dup (p.Leu912fs)
NM_004415.4(DSP):c.2770_2771dup (p.Met924fs)
NM_004415.4(DSP):c.2784_2785del (p.Asn928fs)
NM_004415.4(DSP):c.2821C>T (p.Arg941Ter) rs730880082
NM_004415.4(DSP):c.2832del (p.Glu945fs) rs2113687612
NM_004415.4(DSP):c.2834_2835del (p.Glu945fs) rs2113687617
NM_004415.4(DSP):c.2842del (p.Gln948fs)
NM_004415.4(DSP):c.2847_2848delinsT (p.Lys949fs)
NM_004415.4(DSP):c.2848del (p.Ile950fs) rs397516927
NM_004415.4(DSP):c.2848dup (p.Ile950fs) rs397516927
NM_004415.4(DSP):c.2870_2874del (p.Asn956_Ser957insTer) rs794728139
NM_004415.4(DSP):c.2890C>T (p.Gln964Ter) rs2113688859
NM_004415.4(DSP):c.2903dup (p.Tyr968Ter) rs2113688911
NM_004415.4(DSP):c.2917G>T (p.Glu973Ter)
NM_004415.4(DSP):c.2923_2924del (p.Leu975fs)
NM_004415.4(DSP):c.292G>T (p.Gly98Ter)
NM_004415.4(DSP):c.2947_2948del (p.Thr983fs) rs1554107839
NM_004415.4(DSP):c.2980dup (p.Gln994fs) rs1581813564
NM_004415.4(DSP):c.3018dup (p.Leu1007fs)
NM_004415.4(DSP):c.3044_3047dup (p.Phe1016fs) rs1554107916
NM_004415.4(DSP):c.3045del (p.Arg1015fs) rs1409693501
NM_004415.4(DSP):c.3064_3065del (p.Lys1022fs)
NM_004415.4(DSP):c.3094del (p.Thr1032fs) rs2113690997
NM_004415.4(DSP):c.3110del (p.Leu1037fs)
NM_004415.4(DSP):c.3126del (p.Arg1042fs)
NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter) rs1554108012
NM_004415.4(DSP):c.313C>T (p.Arg105Ter) rs1435125402
NM_004415.4(DSP):c.3160_3169del (p.Lys1054fs) rs397516932
NM_004415.4(DSP):c.3192dup (p.Tyr1065fs) rs778930865
NM_004415.4(DSP):c.3195C>G (p.Tyr1065Ter) rs886039178
NM_004415.4(DSP):c.3203_3204del (p.Glu1068fs)
NM_004415.4(DSP):c.320T>A (p.Leu107Ter) rs2113657559
NM_004415.4(DSP):c.3211C>T (p.Gln1071Ter)
NM_004415.4(DSP):c.3241G>T (p.Glu1081Ter) rs1554108050
NM_004415.4(DSP):c.3253C>T (p.Gln1085Ter) rs1759345923
NM_004415.4(DSP):c.3290_3291dup (p.Asp1098Ter) rs1561697181
NM_004415.4(DSP):c.329_330delinsAA (p.Cys110Ter) rs1561680649
NM_004415.4(DSP):c.330_334del (p.Phe111fs) rs1581792793
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter) rs746877365
NM_004415.4(DSP):c.3338del (p.Arg1113fs) rs2113691528
NM_004415.4(DSP):c.3346del (p.Tyr1116fs) rs2113691557
NM_004415.4(DSP):c.3348T>A (p.Tyr1116Ter) rs772646601
NM_004415.4(DSP):c.3415_3417delinsG (p.Tyr1139fs) rs1064794616
NM_004415.4(DSP):c.3439C>T (p.Gln1147Ter) rs2113691766
NM_004415.4(DSP):c.3449del (p.Lys1150fs) rs2113691774
NM_004415.4(DSP):c.3465G>A (p.Trp1155Ter) rs1759354150
NM_004415.4(DSP):c.3466C>T (p.Gln1156Ter) rs1581815654
NM_004415.4(DSP):c.3474dup (p.Glu1159fs) rs727503000
NM_004415.4(DSP):c.3494dup (p.Glu1166fs) rs2113691887
NM_004415.4(DSP):c.3517del (p.Arg1173fs)
NM_004415.4(DSP):c.3526del (p.Val1176fs) rs727505271
NM_004415.4(DSP):c.3529del (p.Leu1177fs)
NM_004415.4(DSP):c.3535C>T (p.Gln1179Ter) rs1759357763
NM_004415.4(DSP):c.3541G>T (p.Glu1181Ter)
NM_004415.4(DSP):c.3564T>A (p.Tyr1188Ter) rs2113692122
NM_004415.4(DSP):c.3571G>T (p.Glu1191Ter) rs1759359916
NM_004415.4(DSP):c.3578_3579insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGAGCTGGC (p.Ala1193_Lys1194insAlaGlyArgGlyGlySerArgLeuTer) rs2113692133
NM_004415.4(DSP):c.3608_3609insAC (p.Met1203fs) rs2113692208
NM_004415.4(DSP):c.3630T>A (p.Tyr1210Ter) rs727503001
NM_004415.4(DSP):c.3639_3640del (p.Glu1213fs) rs2113692271
NM_004415.4(DSP):c.3733del (p.Glu1245fs) rs794728142
NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs) rs1554108152
NM_004415.4(DSP):c.3739C>T (p.Arg1247Ter) rs1413961070
NM_004415.4(DSP):c.3757del (p.Ile1253fs) rs2113692562
NM_004415.4(DSP):c.3784C>T (p.Gln1262Ter) rs2113692628
NM_004415.4(DSP):c.3793G>T (p.Glu1265Ter) rs1554108172
NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter) rs121912997
NM_004415.4(DSP):c.3826C>T (p.Gln1276Ter)
NM_004415.4(DSP):c.3829C>T (p.Gln1277Ter) rs397516933
NM_004415.4(DSP):c.384dup (p.Arg129fs)
NM_004415.4(DSP):c.3850del (p.Glu1283_Ile1284insTer)
NM_004415.4(DSP):c.3856C>T (p.Gln1286Ter)
NM_004415.4(DSP):c.3858_3859insGG (p.Lys1287fs)
NM_004415.4(DSP):c.3909_3921del (p.Glu1304fs)
NM_004415.4(DSP):c.3928A>T (p.Lys1310Ter)
NM_004415.4(DSP):c.3991_3995del (p.Leu1330_Lys1331insTer)
NM_004415.4(DSP):c.4003C>T (p.Gln1335Ter) rs879255521
NM_004415.4(DSP):c.4009del (p.Glu1337fs) rs794727381
NM_004415.4(DSP):c.4037_4041del (p.Asn1346fs) rs1561698362
NM_004415.4(DSP):c.4044_4047del (p.Ser1349fs)
NM_004415.4(DSP):c.4076_4106del (p.Ile1359fs)
NM_004415.4(DSP):c.4113_4114insCAAG (p.Ile1372fs)
NM_004415.4(DSP):c.4153_4156del (p.Glu1385fs) rs1759385935
NM_004415.4(DSP):c.415del (p.Gln139fs)
NM_004415.4(DSP):c.4180C>T (p.Gln1394Ter) rs140474226
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) rs770873593
NM_004415.4(DSP):c.4201G>T (p.Glu1401Ter) rs774065012
NM_004415.4(DSP):c.4229dup (p.Arg1411fs)
NM_004415.4(DSP):c.4245_4254del (p.Leu1416fs)
NM_004415.4(DSP):c.4252C>T (p.Gln1418Ter)
NM_004415.4(DSP):c.4305_4311del (p.Thr1436fs) rs2113693785
NM_004415.4(DSP):c.4337_4338insTGCT (p.Gln1446fs) rs2113693861
NM_004415.4(DSP):c.4357C>T (p.Gln1453Ter) rs1561698750
NM_004415.4(DSP):c.4372C>T (p.Arg1458Ter) rs28763965
NM_004415.4(DSP):c.4384_4387del (p.Glu1461_Ser1462insTer) rs1759396933
NM_004415.4(DSP):c.4388dup (p.Arg1464fs)
NM_004415.4(DSP):c.4395T>G (p.Tyr1465Ter) rs1236464864
NM_004415.4(DSP):c.4411dup (p.Asp1471fs)
NM_004415.4(DSP):c.4423del (p.Thr1475fs) rs1227662860
NM_004415.4(DSP):c.4434_4464dup (p.Leu1489Ter) rs2113694068
NM_004415.4(DSP):c.4434dup (p.Lys1479Ter) rs2113694076
NM_004415.4(DSP):c.4451_4454del (p.Glu1484fs)
NM_004415.4(DSP):c.4462C>T (p.Gln1488Ter)
NM_004415.4(DSP):c.4477_4480del (p.Glu1493fs)
NM_004415.4(DSP):c.448C>T (p.Arg150Ter) rs2113659637
NM_004415.4(DSP):c.4491del (p.Lys1498fs)
NM_004415.4(DSP):c.4579_4582del (p.Asn1526_Lys1527insTer) rs2113694449
NM_004415.4(DSP):c.4608dup (p.Arg1537fs)
NM_004415.4(DSP):c.465del (p.Ile156fs) rs1554105911
NM_004415.4(DSP):c.4687_4688del (p.Leu1563fs) rs2113694673
NM_004415.4(DSP):c.4699C>T (p.Gln1567Ter) rs2113694704
NM_004415.4(DSP):c.4751_4752del (p.Ala1584fs) rs2113694794
NM_004415.4(DSP):c.4751del (p.Ala1584fs)
NM_004415.4(DSP):c.4753_4759del (p.Ser1585fs) rs2113694822
NM_004415.4(DSP):c.4789G>T (p.Glu1597Ter) rs1259613160
NM_004415.4(DSP):c.478C>T (p.Arg160Ter) rs397516943
NM_004415.4(DSP):c.4822C>T (p.Gln1608Ter) rs1060500610
NM_004415.4(DSP):c.4875del (p.Lys1626fs)
NM_004415.4(DSP):c.4876_4880del (p.Lys1626fs) rs1759421816
NM_004415.4(DSP):c.4879_4883del (p.Lys1627fs)
NM_004415.4(DSP):c.4882_4886delinsTCTT (p.Arg1628fs)
NM_004415.4(DSP):c.4882del (p.Arg1628fs) rs2113695145
NM_004415.4(DSP):c.4902del (p.Gln1635fs)
NM_004415.4(DSP):c.490_491insAGCTCGAGTCCCT (p.Ala164fs) rs1758603690
NM_004415.4(DSP):c.4941del (p.Lys1647fs)
NM_004415.4(DSP):c.4951C>T (p.Gln1651Ter)
NM_004415.4(DSP):c.4954dup (p.Glu1652fs)
NM_004415.4(DSP):c.4974_4975del (p.Ser1658_Ser1659insTer) rs1759426108
NM_004415.4(DSP):c.4999C>T (p.Gln1667Ter) rs1554108431
NM_004415.4(DSP):c.5004dup (p.Leu1669fs) rs2113695398
NM_004415.4(DSP):c.5011del (p.Glu1671fs)
NM_004415.4(DSP):c.5014C>T (p.Gln1672Ter) rs786205416
NM_004415.4(DSP):c.5020dup (p.Ser1674fs) rs2113695431
NM_004415.4(DSP):c.5028_5031del (p.Gln1677fs)
NM_004415.4(DSP):c.5063_5072del (p.Ala1688fs) rs2113695514
NM_004415.4(DSP):c.5120_5123del (p.Gln1707fs)
NM_004415.4(DSP):c.5126_5127del (p.Leu1709fs)
NM_004415.4(DSP):c.5133_5134insC (p.Asn1712fs)
NM_004415.4(DSP):c.5146del (p.Glu1716fs)
NM_004415.4(DSP):c.5154del (p.Met1719fs)
NM_004415.4(DSP):c.5210del (p.Gly1737fs) rs1581819043
NM_004415.4(DSP):c.5212C>T (p.Arg1738Ter) rs794728124
NM_004415.4(DSP):c.522T>A (p.Cys174Ter) rs144781697
NM_004415.4(DSP):c.523C>T (p.Gln175Ter) rs1581794029
NM_004415.4(DSP):c.5262_5266dup (p.Leu1756fs)
NM_004415.4(DSP):c.5269C>T (p.Gln1757Ter) rs1554108477
NM_004415.4(DSP):c.5303_5304dup (p.Leu1769fs)
NM_004415.4(DSP):c.5318del (p.Leu1773fs) rs2113696088
NM_004415.4(DSP):c.5327_5330del (p.Glu1776fs) rs1394836623
NM_004415.4(DSP):c.5329_5330del (p.Arg1777fs)
NM_004415.4(DSP):c.5389dup (p.Arg1797fs) rs1759475221
NM_004415.4(DSP):c.5428C>T (p.Gln1810Ter) rs397516946
NM_004415.4(DSP):c.5431G>T (p.Glu1811Ter) rs2113697854
NM_004415.4(DSP):c.5438_5441del (p.Glu1813fs)
NM_004415.4(DSP):c.5440_5441del (p.Ser1814fs)
NM_004415.4(DSP):c.5460_5466del (p.Val1821fs) rs1554108610
NM_004415.4(DSP):c.5460_5472del (p.Val1821fs) rs1759478436
NM_004415.4(DSP):c.5460dup (p.Val1821fs) rs1554108609
NM_004415.4(DSP):c.5462del (p.Val1821fs) rs2113697914
NM_004415.4(DSP):c.5542del (p.Arg1848fs) rs1759482084
NM_004415.4(DSP):c.5550_5557delinsGTG (p.Gln1851fs) rs1554108621
NM_004415.4(DSP):c.5551C>T (p.Gln1851Ter)
NM_004415.4(DSP):c.5648C>A (p.Ser1883Ter)
NM_004415.4(DSP):c.5656_5657del (p.Glu1886fs) rs1759489185
NM_004415.4(DSP):c.5664_5667del (p.Ser1888fs) rs1759489644
NM_004415.4(DSP):c.5671_5674del (p.Glu1891fs) rs1487814687
NM_004415.4(DSP):c.5673_5674del (p.Lys1892fs) rs1487814687
NM_004415.4(DSP):c.5673_5674dup (p.Lys1892fs) rs1487814687
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs) rs774763657
NM_004415.4(DSP):c.5731G>T (p.Glu1911Ter)
NM_004415.4(DSP):c.573_576del (p.Cys191fs)
NM_004415.4(DSP):c.5745dup (p.Lys1916Ter) rs1060500607
NM_004415.4(DSP):c.5773C>T (p.Gln1925Ter) rs2113698710
NM_004415.4(DSP):c.5773_5774del (p.Gln1925fs) rs1561701401
NM_004415.4(DSP):c.5779C>T (p.Gln1927Ter)
NM_004415.4(DSP):c.5782_5785del (p.Leu1928fs)
NM_004415.4(DSP):c.5800C>T (p.Arg1934Ter) rs121912996
NM_004415.4(DSP):c.5806C>T (p.Gln1936Ter) rs2113698797
NM_004415.4(DSP):c.582G>A (p.Trp194Ter)
NM_004415.4(DSP):c.5830C>T (p.Gln1944Ter) rs2113698863
NM_004415.4(DSP):c.5850_5851delinsAT (p.His1950_Arg1951delinsGlnTer) rs2113698912
NM_004415.4(DSP):c.5851C>T (p.Arg1951Ter) rs869025395
NM_004415.4(DSP):c.5855del (p.Glu1952fs) rs1759501217
NM_004415.4(DSP):c.5877G>A (p.Trp1959Ter)
NM_004415.4(DSP):c.5887dup (p.Thr1963fs) rs2113699015
NM_004415.4(DSP):c.5943dup (p.Glu1982Ter) rs2113699152
NM_004415.4(DSP):c.5964_5968del (p.Lys1988fs)
NM_004415.4(DSP):c.5987del (p.Lys1996fs) rs1759510200
NM_004415.4(DSP):c.5999_6011del (p.Ser2000fs)
NM_004415.4(DSP):c.6072_6073insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCATCTGCTTCT (p.Pro2025fs)
NM_004415.4(DSP):c.6084dup (p.Tyr2029fs) rs2113699501
NM_004415.4(DSP):c.6085dup (p.Tyr2029fs)
NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs) rs397514040
NM_004415.4(DSP):c.623del (p.Gly208fs) rs2113665067
NM_004415.4(DSP):c.6253C>T (p.Gln2085Ter)
NM_004415.4(DSP):c.6262del (p.Ala2088fs) rs1759522381
NM_004415.4(DSP):c.6273del (p.Ala2092fs) rs794728146
NM_004415.4(DSP):c.6288dup (p.Asp2097Ter) rs2113699911
NM_004415.4(DSP):c.6318del (p.Val2107fs) rs2113699991
NM_004415.4(DSP):c.6382C>T (p.Gln2128Ter) rs2113700191
NM_004415.4(DSP):c.6393del (p.Gly2133fs) rs730880093
NM_004415.4(DSP):c.6398dup (p.Val2134fs) rs794728147
NM_004415.4(DSP):c.6456dup (p.Leu2153fs) rs1554108854
NM_004415.4(DSP):c.6466dup (p.Arg2156fs) rs1554108859
NM_004415.4(DSP):c.646dup (p.Gln216fs) rs2113665124
NM_004415.4(DSP):c.6478C>T (p.Arg2160Ter) rs777573018
NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter) rs141026028
NM_004415.4(DSP):c.6504_6507del (p.Ser2168fs) rs1561702640
NM_004415.4(DSP):c.6510_6511insCT (p.Asn2171fs) rs794728148
NM_004415.4(DSP):c.6516del (p.Phe2172fs)
NM_004415.4(DSP):c.6562del (p.Glu2188fs) rs2113700654
NM_004415.4(DSP):c.6583_6584del (p.His2195fs) rs1561702771
NM_004415.4(DSP):c.6605del (p.Leu2201_Ser2202insTer)
NM_004415.4(DSP):c.6697_6698del (p.Val2233fs) rs2113700906
NM_004415.4(DSP):c.6766_6767insTG (p.Gly2256fs) rs2113701020
NM_004415.4(DSP):c.6767del (p.Gly2256fs) rs1759546885
NM_004415.4(DSP):c.6850C>T (p.Arg2284Ter) rs794728130
NM_004415.4(DSP):c.6937del (p.Glu2313fs) rs794728143
NM_004415.4(DSP):c.6954_6955del (p.Gly2319fs) rs1554108929
NM_004415.4(DSP):c.698G>A (p.Trp233Ter)
NM_004415.4(DSP):c.699G>A (p.Trp233Ter) rs397516955
NM_004415.4(DSP):c.700C>T (p.Gln234Ter) rs1758740270
NM_004415.4(DSP):c.7075del (p.Ile2359fs) rs1561703363
NM_004415.4(DSP):c.7082dup (p.His2363fs) rs2113701589
NM_004415.4(DSP):c.7096C>T (p.Arg2366Cys) rs28931610
NM_004415.4(DSP):c.7097G>A (p.Arg2366His) rs387906618
NM_004415.4(DSP):c.712dup (p.Ile238fs) rs397516956
NM_004415.4(DSP):c.7214_7217del (p.Leu2405fs)
NM_004415.4(DSP):c.7217C>G (p.Ser2406Ter) rs2113701867
NM_004415.4(DSP):c.7240G>T (p.Gly2414Ter) rs1194358112
NM_004415.4(DSP):c.7248del (p.Phe2416fs) rs730880024
NM_004415.4(DSP):c.7254dup (p.Asn2419fs)
NM_004415.4(DSP):c.729del (p.Glu244fs)
NM_004415.4(DSP):c.7325_7326del (p.Cys2442fs)
NM_004415.4(DSP):c.7372_7373del (p.Lys2458fs) rs1581823931
NM_004415.4(DSP):c.7393_7400del (p.Arg2465fs) rs2113702255
NM_004415.4(DSP):c.7469del (p.Tyr2490fs) rs1581824066
NM_004415.4(DSP):c.7529del (p.Gly2510fs) rs2113702487
NM_004415.4(DSP):c.7563_7566del (p.Asp2521fs) rs1320456072
NM_004415.4(DSP):c.7567_7570del (p.Lys2523fs) rs1759580297
NM_004415.4(DSP):c.7570_7573del (p.Thr2524fs) rs1561703922
NM_004415.4(DSP):c.7623del (p.Lys2542fs) rs397514039
NM_004415.4(DSP):c.7662del (p.Thr2555fs)
NM_004415.4(DSP):c.7738del (p.Asp2580fs)
NM_004415.4(DSP):c.7773_7776del (p.Ser2591fs) rs763560697
NM_004415.4(DSP):c.7820del (p.Ser2607fs) rs2113703361
NM_004415.4(DSP):c.7873dup (p.Thr2625fs) rs794728149
NM_004415.4(DSP):c.7874_7875del (p.Thr2625fs) rs1561704475
NM_004415.4(DSP):c.7876_7877del (p.Glu2626fs)
NM_004415.4(DSP):c.7918_7919dup (p.Ile2641fs) rs1759606062
NM_004415.4(DSP):c.7960C>T (p.Gln2654Ter)
NM_004415.4(DSP):c.7968_7972del (p.Cys2656fs)
NM_004415.4(DSP):c.7997del (p.Gly2666fs)
NM_004415.4(DSP):c.8014C>T (p.Gln2672Ter) rs1064793890
NM_004415.4(DSP):c.8014dup (p.Gln2672fs)
NM_004415.4(DSP):c.8040dup (p.Asp2681Ter)
NM_004415.4(DSP):c.8041_8042del (p.Asp2681fs)
NM_004415.4(DSP):c.8077_8080del (p.Lys2693fs) rs879254352
NM_004415.4(DSP):c.808C>T (p.Arg270Ter)
NM_004415.4(DSP):c.8140A>T (p.Lys2714Ter)
NM_004415.4(DSP):c.8143del (p.Glu2715fs)
NM_004415.4(DSP):c.8156del (p.Pro2719fs) rs1554109181
NM_004415.4(DSP):c.8170C>T (p.Gln2724Ter) rs879254353
NM_004415.4(DSP):c.8173del (p.Arg2725fs) rs1759623444
NM_004415.4(DSP):c.8182dup (p.Glu2728fs) rs1554109187
NM_004415.4(DSP):c.818dup (p.Asn274fs) rs1758828554
NM_004415.4(DSP):c.827_830del (p.Ile276fs) rs1758828907
NM_004415.4(DSP):c.829C>T (p.Gln277Ter)
NM_004415.4(DSP):c.84C>A (p.Tyr28Ter)
NM_004415.4(DSP):c.85G>T (p.Glu29Ter) rs1320349488
NM_004415.4(DSP):c.867C>A (p.Cys289Ter) rs397516973
NM_004415.4(DSP):c.877G>A (p.Glu293Lys) rs876657799
NM_004415.4(DSP):c.888C>A (p.Tyr296Ter) rs149701627
NM_004415.4(DSP):c.888C>G (p.Tyr296Ter) rs149701627
NM_004415.4(DSP):c.894G>A (p.Trp298Ter) rs2113669445
NM_004415.4(DSP):c.897C>A (p.Ser299Arg)
NM_004415.4(DSP):c.919C>T (p.Gln307Ter) rs1238227166
NM_004415.4(DSP):c.924dup (p.Gln309fs) rs2113669536
NM_004415.4(DSP):c.925C>T (p.Gln309Ter) rs1581799453
NM_004415.4(DSP):c.928dup (p.Glu310fs) rs794728137
NM_004415.4(DSP):c.931del (p.Ala311fs)
NM_004415.4(DSP):c.939+1G>T rs727504443
NM_004415.4(DSP):c.939+1del rs1758835134
NM_004415.4(DSP):c.939+2T>C rs2113669594
NM_004415.4(DSP):c.942dup (p.Arg315fs) rs1758864039
NM_004415.4(DSP):c.991C>T (p.Gln331Ter) rs121912991
NM_004415.4(DSP):c.997del (p.Ser333fs)
NM_004453.4(ETFDH):c.1011del (p.Phe337fs) rs757063739
NM_004453.4(ETFDH):c.1062del (p.Gly355fs) rs2150312280
NM_004453.4(ETFDH):c.1074G>C (p.Arg358Ser)
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro) rs387907170
NM_004453.4(ETFDH):c.1134del (p.Pro380fs) rs1369800014
NM_004453.4(ETFDH):c.1136_1140del (p.Phe379fs) rs2126309189
NM_004453.4(ETFDH):c.1141G>C (p.Gly381Arg) rs1466787789
NM_004453.4(ETFDH):c.1169del (p.Gly390fs) rs1774519872
NM_004453.4(ETFDH):c.1227A>C (p.Leu409Phe) rs1200031596
NM_004453.4(ETFDH):c.1255_1258del (p.Thr419fs) rs1480647123
NM_004453.4(ETFDH):c.1270C>T (p.Gln424Ter)
NM_004453.4(ETFDH):c.1276A>T (p.Lys426Ter)
NM_004453.4(ETFDH):c.1281_1282del (p.Ile428fs)
NM_004453.4(ETFDH):c.1285+2T>G rs2126309523
NM_004453.4(ETFDH):c.1303dup (p.Tyr435fs)
NM_004453.4(ETFDH):c.1339G>T (p.Glu447Ter) rs2126314844
NM_004453.4(ETFDH):c.1349_1350del (p.Ser450fs)
NM_004453.4(ETFDH):c.1355_1358del (p.Arg452fs)
NM_004453.4(ETFDH):c.1374C>A (p.Cys458Ter) rs1580422708
NM_004453.4(ETFDH):c.1375del (p.His459fs) rs1774610957
NM_004453.4(ETFDH):c.1378G>T (p.Gly460Ter) rs989125087
NM_004453.4(ETFDH):c.1395T>G (p.Tyr465Ter) rs745714733
NM_004453.4(ETFDH):c.1428G>A (p.Trp476Ter)
NM_004453.4(ETFDH):c.1433T>A (p.Leu478Ter) rs2126315337
NM_004453.4(ETFDH):c.1433del (p.Ile477_Leu478insTer)
NM_004453.4(ETFDH):c.1450T>C (p.Trp484Arg) rs1774616485
NM_004453.4(ETFDH):c.1464_1465del (p.His488fs) rs2126315444
NM_004453.4(ETFDH):c.1487T>C (p.Leu496Pro) rs863224869
NM_004453.4(ETFDH):c.1512dup (p.Ile505fs) rs2126316172
NM_004453.4(ETFDH):c.1522C>A (p.Pro508Thr) rs751394068
NM_004453.4(ETFDH):c.152G>A (p.Arg51Gln) rs534388496
NM_004453.4(ETFDH):c.1555_1556del (p.Leu519fs) rs1774630121
NM_004453.4(ETFDH):c.1570_1571del (p.Leu524fs) rs727503919
NM_004453.4(ETFDH):c.157A>T (p.Lys53Ter) rs878853006
NM_004453.4(ETFDH):c.1607_1608del (p.His536fs) rs1774633192
NM_004453.4(ETFDH):c.1623del (p.Asp541fs) rs2126316669
NM_004453.4(ETFDH):c.1627_1628insAT (p.Ser543fs)
NM_004453.4(ETFDH):c.1631dup (p.Pro545fs) rs771393519
NM_004453.4(ETFDH):c.163_164del (p.Lys55fs) rs2150304416
NM_004453.4(ETFDH):c.1648_1649del (p.Leu550fs) rs1469053638
NM_004453.4(ETFDH):c.1650_1651del (p.Ser551fs) rs2126316783
NM_004453.4(ETFDH):c.1652C>A (p.Ser551Ter)
NM_004453.4(ETFDH):c.1659T>G (p.Tyr553Ter)
NM_004453.4(ETFDH):c.1666C>T (p.Pro556Ser) rs2126316885
NM_004453.4(ETFDH):c.1675C>T (p.Arg559Ter)
NM_004453.4(ETFDH):c.1690+2T>G
NM_004453.4(ETFDH):c.1699G>T (p.Glu567Ter) rs1774695889
NM_004453.4(ETFDH):c.172G>T (p.Glu58Ter)
NM_004453.4(ETFDH):c.1745del (p.Asn582fs) rs1774698674
NM_004453.4(ETFDH):c.175+1del rs2150304426
NM_004453.4(ETFDH):c.1763A>G (p.His588Arg) rs781498366
NM_004453.4(ETFDH):c.1779del (p.Asp593fs)
NM_004453.4(ETFDH):c.1785del (p.Asp596fs) rs2126321079
NM_004453.4(ETFDH):c.1804_1807dup (p.Trp603Ter) rs1580425904
NM_004453.4(ETFDH):c.1825GGA[2] (p.Gly611del)
NM_004453.4(ETFDH):c.1828G>A (p.Gly610Arg) rs2126321296
NM_004453.4(ETFDH):c.1842_1845dup (p.Gly616fs)
NM_004453.4(ETFDH):c.1850_1854del (p.Met617fs)
NM_004453.4(ETFDH):c.207del (p.Asp70fs) rs1773877563
NM_004453.4(ETFDH):c.240_241del (p.Ser82fs)
NM_004453.4(ETFDH):c.251C>T (p.Ala84Val) rs1580396712
NM_004453.4(ETFDH):c.265C>T (p.Gln89Ter) rs2150305196
NM_004453.4(ETFDH):c.265_266del (p.Gln89fs) rs1773880008
NM_004453.4(ETFDH):c.269T>A (p.Leu90Ter) rs749085653
NM_004453.4(ETFDH):c.2T>C (p.Met1Thr) rs121964953
NM_004453.4(ETFDH):c.302_303dup (p.Leu102fs) rs796051962
NM_004453.4(ETFDH):c.34+5G>C rs1373597092
NM_004453.4(ETFDH):c.344C>G (p.Ser115Ter) rs2150305273
NM_004453.4(ETFDH):c.350_351dup (p.Cys118fs)
NM_004453.4(ETFDH):c.360dup (p.Pro121fs)
NM_004453.4(ETFDH):c.380T>A (p.Leu127His) rs121964956
NM_004453.4(ETFDH):c.380T>G (p.Leu127Arg) rs121964956
NM_004453.4(ETFDH):c.383del (p.Phe128fs)
NM_004453.4(ETFDH):c.386del (p.Pro129fs) rs2150305297
NM_004453.4(ETFDH):c.3G>C (p.Met1Ile)
NM_004453.4(ETFDH):c.3G>T (p.Met1Ile)
NM_004453.4(ETFDH):c.409C>T (p.Pro137Ser)
NM_004453.4(ETFDH):c.40del (p.Gln14fs)
NM_004453.4(ETFDH):c.430G>T (p.Glu144Ter)
NM_004453.4(ETFDH):c.430_431del (p.Glu144fs)
NM_004453.4(ETFDH):c.432_438del (p.Glu144fs) rs1231802914
NM_004453.4(ETFDH):c.443_446dup (p.Ile149fs) rs1773954366
NM_004453.4(ETFDH):c.462C>G (p.Tyr154Ter) rs878853082
NM_004453.4(ETFDH):c.463A>T (p.Arg155Ter) rs549150456
NM_004453.4(ETFDH):c.468dup (p.Pro157fs)
NM_004453.4(ETFDH):c.524G>A (p.Arg175His) rs121964955
NM_004453.4(ETFDH):c.524G>T (p.Arg175Leu) rs121964955
NM_004453.4(ETFDH):c.56del (p.Ala18_Leu19insTer) rs2150304339
NM_004453.4(ETFDH):c.577G>T (p.Glu193Ter)
NM_004453.4(ETFDH):c.583_584dup (p.Pro196fs) rs2150306625
NM_004453.4(ETFDH):c.643G>A (p.Ala215Thr)
NM_004453.4(ETFDH):c.71dup (p.Asn24fs) rs2150304342
NM_004453.4(ETFDH):c.838del (p.Val280fs)
NM_004453.4(ETFDH):c.872T>G (p.Val291Gly) rs755907131
NM_004453.4(ETFDH):c.892C>T (p.Pro298Ser) rs1774344831
NM_004453.4(ETFDH):c.916G>T (p.Gly306Ter)
NM_004453.4(ETFDH):c.972+1del
NM_004453.4(ETFDH):c.98G>A (p.Trp33Ter) rs1169197181
NM_004453.4(ETFDH):c.992A>T (p.Asn331Ile) rs2150312216
NM_004453.4(ETFDH):c.999C>A (p.Tyr333Ter) rs2150312228
NM_004572.3(PKP2):c.1677dup (p.Gly560Trpfs) rs1555144459
NM_004572.3(PKP2):c.2146-?_2489+?del
NM_005159.5(ACTC1):c.740G>A (p.Gly247Asp) rs1566967399
NM_005159.5(ACTC1):c.76G>A (p.Asp26Asn) rs727504399
NM_005159.5(ACTC1):c.889G>T (p.Ala297Ser) rs121912675
NM_005159.5(ACTC1):c.997G>C (p.Ala333Pro) rs267606629
NM_005343.4(HRAS):c.173C>T (p.Thr58Ile) rs121917758
NM_005343.4(HRAS):c.179G>A (p.Gly60Asp) rs730880460
NM_005343.4(HRAS):c.186_206dup (p.Glu62_Arg68dup) rs1554884966
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) rs104894230
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.35_36delinsTT (p.Gly12Val) rs727503094
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) rs104894226
NM_005921.2(MAP3K1):c.1016G>A (p.Arg339Gln) rs1554034036
NM_005921.2(MAP3K1):c.1348A>G (p.Met450Val)
NM_006073.4(TRDN):c.22+1G>T rs1290195833
NM_006073.4(TRDN):c.232+2T>A rs1554258777
NM_006073.4(TRDN):c.232+2T>C
NM_006073.4(TRDN):c.2T>C (p.Met1Thr)
NM_006073.4(TRDN):c.334del (p.Asp112fs)
NM_006073.4(TRDN):c.423del (p.Glu142fs) rs757805966
NM_006073.4(TRDN):c.424G>T (p.Glu142Ter)
NM_006073.4(TRDN):c.438_442del (p.Asp146_Lys147insTer) rs752256846
NM_006073.4(TRDN):c.439_440del (p.Lys147fs) rs2114339116
NM_006073.4(TRDN):c.451C>T (p.Gln151Ter)
NM_006073.4(TRDN):c.483del (p.Val162fs)
NM_006073.4(TRDN):c.502G>T (p.Glu168Ter) rs545032318
NM_006073.4(TRDN):c.507dup (p.Gly170fs)
NM_006073.4(TRDN):c.531del (p.Glu178fs) rs1432170970
NM_006073.4(TRDN):c.532_533del (p.Glu178fs)
NM_006073.4(TRDN):c.53_56del (p.Asp18fs) rs768049331
NM_006073.4(TRDN):c.568dup (p.Ile190fs) rs1085307100
NM_006073.4(TRDN):c.573dup (p.Lys192fs) rs1554251609
NM_006073.4(TRDN):c.618del (p.Ala208fs) rs1060502114
NM_006073.4(TRDN):c.91del (p.Val31fs) rs2114537918
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) rs672601334
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.229G>C (p.Ala77Pro) rs869025191
NM_006912.6(RIT1):c.229G>T (p.Ala77Ser) rs869025191
NM_006912.6(RIT1):c.230C>G (p.Ala77Gly) rs1673399238
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_006912.6(RIT1):c.244T>A (p.Phe82Ile) rs869025194
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu) rs869025194
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006912.6(RIT1):c.246T>A (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro) rs869025195
NM_006912.6(RIT1):c.259G>C (p.Asp87His) rs886041414
NM_006912.6(RIT1):c.265T>C (p.Tyr89His) rs869025197
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
NM_006912.6(RIT1):c.270G>A (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.270G>C (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.270G>T (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006912.6(RIT1):c.365G>T (p.Arg122Leu) rs777520196
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln) rs869312687
NM_006912.6(RIT1):c.69A>C (p.Lys23Asn) rs1557962794
NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser) rs869320687
NM_006939.4(SOS2):c.1291G>A (p.Glu431Lys)
NM_006939.4(SOS2):c.791C>A (p.Thr264Lys)
NM_006939.4(SOS2):c.800T>A (p.Met267Lys) rs797045167
NM_006939.4(SOS2):c.800T>C (p.Met267Thr) rs797045167
NM_006939.4(SOS2):c.800T>G (p.Met267Arg)
NM_012082.4(ZFPM2):c.931C>T (p.Arg311Ter) rs1195263093
NM_014908.4(DOLK):c.1342G>C (p.Gly448Arg)
NM_014908.4(DOLK):c.3G>A (p.Met1Ile) rs1564546510
NM_016203.4(PRKAG2):c.1006G>T (p.Val336Leu) rs727504707
NM_016203.4(PRKAG2):c.1007T>C (p.Val336Ala) rs2151024166
NM_016203.4(PRKAG2):c.1148A>G (p.His383Arg) rs121908988
NM_016203.4(PRKAG2):c.1453A>G (p.Lys485Glu)
NM_016203.4(PRKAG2):c.1516G>A (p.Glu506Lys)
NM_016203.4(PRKAG2):c.1588C>G (p.His530Asp) rs1804721948
NM_016203.4(PRKAG2):c.1589A>G (p.His530Arg) rs267606977
NM_016203.4(PRKAG2):c.1592G>A (p.Arg531Gln) rs121908991
NM_016203.4(PRKAG2):c.1592G>T (p.Arg531Leu) rs121908991
NM_016203.4(PRKAG2):c.869A>T (p.Lys290Ile) rs1808950153
NM_016203.4(PRKAG2):c.905G>C (p.Arg302Pro) rs121908987
NM_020297.4(ABCC9):c.1266T>G (p.Asn422Lys)
NM_020297.4(ABCC9):c.3346C>T (p.Arg1116Cys) rs387907228
NM_020297.4(ABCC9):c.3347G>A (p.Arg1116His) rs387907227
NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp) rs387907208
NM_020297.4(ABCC9):c.3461G>A (p.Arg1154Gln) rs387907209
NM_020297.4(ABCC9):c.3605C>T (p.Thr1202Met) rs2137272605
NM_020297.4(ABCC9):c.3796G>A (p.Val1266Met) rs1555179320
NM_020433.5(JPH2):c.482C>A (p.Thr161Lys) rs587782951
NM_022455.5(NSD1):c.1046_1048delinsT (p.Thr349fs) rs1581254366
NM_022455.5(NSD1):c.1509delinsGA (p.Asp504fs) rs1562205351
NM_022455.5(NSD1):c.1609_1610delinsC (p.Phe537fs) rs1763204241
NM_022455.5(NSD1):c.1654del (p.Ser552fs) rs1060501497
NM_022455.5(NSD1):c.1816A>T (p.Lys606Ter) rs1554189131
NM_022455.5(NSD1):c.207C>A (p.Tyr69Ter) rs1562097849
NM_022455.5(NSD1):c.2256_2257del (p.Pro753fs) rs1581319715
NM_022455.5(NSD1):c.2316_2329dup (p.Leu777fs) rs1554189490
NM_022455.5(NSD1):c.2334dup (p.His779fs) rs1554189512
NM_022455.5(NSD1):c.2619_2623del (p.Glu874fs) rs1060501490
NM_022455.5(NSD1):c.2760_2763del (p.Ser920fs) rs1064794051
NM_022455.5(NSD1):c.3386_3387del (p.Ser1128_Phe1129insTer) rs1554190214
NM_022455.5(NSD1):c.3422del (p.Met1141fs) rs1554190247
NM_022455.5(NSD1):c.3548_3549insGA (p.Glu1184fs) rs878855075
NM_022455.5(NSD1):c.3570dup (p.Leu1191fs) rs1562213553
NM_022455.5(NSD1):c.3659_3660del (p.Glu1220fs) rs587784104
NM_022455.5(NSD1):c.3968_3969dup (p.Ser1324fs) rs1554195840
NM_022455.5(NSD1):c.4213C>T (p.Gln1405Ter) rs1581411478
NM_022455.5(NSD1):c.4226_4229del (p.Thr1409fs) rs1765713589
NM_022455.5(NSD1):c.5437_5440del (p.Phe1813fs) rs1554202205
NM_022455.5(NSD1):c.5994del (p.Met1998fs) rs878855077
NM_022455.5(NSD1):c.6020_6021dup (p.Asp2008fs) rs1554204923
NM_022455.5(NSD1):c.880_881del (p.Glu294fs) rs1060501492
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu) rs63750743
NM_024422.6(DSC2):c.1023dup (p.Ile342fs) rs768389941
NM_024422.6(DSC2):c.1053_1059del (p.His351fs) rs1373100329
NM_024422.6(DSC2):c.110_114del (p.Leu37fs) rs2144850365
NM_024422.6(DSC2):c.1187T>G (p.Leu396Ter)
NM_024422.6(DSC2):c.1187dup (p.Leu396fs)
NM_024422.6(DSC2):c.123del (p.Lys42fs) rs1598592533
NM_024422.6(DSC2):c.1260del (p.Lys421fs)
NM_024422.6(DSC2):c.133del (p.Ala45fs)
NM_024422.6(DSC2):c.1370_1371dup (p.Val458fs) rs1987170019
NM_024422.6(DSC2):c.1486del (p.Tyr496fs) rs1987161799
NM_024422.6(DSC2):c.1571del (p.Thr524fs) rs2144812824
NM_024422.6(DSC2):c.1660C>T (p.Gln554Ter) rs878853170
NM_024422.6(DSC2):c.1720_1733del (p.Asn573_Ser574insTer) rs2144800227
NM_024422.6(DSC2):c.1840_1841dup (p.Ser614fs) rs2144799555
NM_024422.6(DSC2):c.1858C>T (p.Gln620Ter) rs1986951516
NM_024422.6(DSC2):c.1932dup (p.Ser645fs) rs1448467079
NM_024422.6(DSC2):c.1939del (p.Tyr646_Val647insTer) rs1986844120
NM_024422.6(DSC2):c.2112_2116del (p.Phe708fs) rs1555637555
NM_024422.6(DSC2):c.2136del (p.Phe712fs)
NM_024422.6(DSC2):c.2136dup (p.Thr713fs) rs2144788632
NM_024422.6(DSC2):c.2186del (p.Pro729fs) rs1598572298
NM_024422.6(DSC2):c.2200C>T (p.Gln734Ter) rs769022411
NM_024422.6(DSC2):c.2203C>T (p.Gln735Ter)
NM_024422.6(DSC2):c.2307T>A (p.Cys769Ter)
NM_024422.6(DSC2):c.2463C>A (p.Tyr821Ter) rs1567971476
NM_024422.6(DSC2):c.268G>T (p.Glu90Ter) rs1987624232
NM_024422.6(DSC2):c.30G>A (p.Trp10Ter) rs1555641322
NM_024422.6(DSC2):c.686del (p.Leu229fs)
NM_024422.6(DSC2):c.729del (p.Phe243fs) rs2144833653
NM_024422.6(DSC2):c.77del (p.Ile26fs) rs1555640399
NM_024422.6(DSC2):c.846C>G (p.Tyr282Ter) rs397517406
NM_024422.6(DSC2):c.882dup (p.Phe295fs) rs1060502989
NM_024422.6(DSC2):c.929delinsTT (p.Gln310fs)
NM_024422.6(DSC2):c.96del (p.Ala31_Cys32insTer) rs397517408
NM_024422.6(DSC2):c.991C>T (p.Gln331Ter)
NM_024422.6(DSC2):c.996T>G (p.Tyr332Ter) rs1555639134
NM_032578.4(MYPN):c.1204C>T (p.Gln402Ter)
NM_032578.4(MYPN):c.1273G>T (p.Gly425Ter) rs777033025
NM_032578.4(MYPN):c.1465C>T (p.Arg489Ter)
NM_032578.4(MYPN):c.1714del (p.Gln572fs)
NM_032578.4(MYPN):c.1722del (p.Lys575fs) rs2134168183
NM_032578.4(MYPN):c.1864C>T (p.Gln622Ter) rs1226400049
NM_032578.4(MYPN):c.1910dup (p.Thr639fs) rs2134169413
NM_032578.4(MYPN):c.1990C>T (p.Gln664Ter) rs2134198422
NM_032578.4(MYPN):c.2084del (p.Val694_Leu695insTer)
NM_032578.4(MYPN):c.211G>T (p.Glu71Ter)
NM_032578.4(MYPN):c.2689A>T (p.Arg897Ter) rs2134204980
NM_032578.4(MYPN):c.295C>T (p.Arg99Ter) rs756823228
NM_032578.4(MYPN):c.2968G>T (p.Glu990Ter) rs755507922
NM_032578.4(MYPN):c.2986C>T (p.Arg996Ter)
NM_032578.4(MYPN):c.3057del (p.Met1020fs) rs2134278222
NM_032578.4(MYPN):c.3127del (p.Ser1043fs) rs1589608098
NM_032578.4(MYPN):c.3214C>T (p.Arg1072Ter) rs1057519573
NM_032578.4(MYPN):c.3244_3245dup (p.Met1082fs)
NM_032578.4(MYPN):c.3327_3328del (p.Asn1109fs)
NM_032578.4(MYPN):c.3403_3404del (p.Pro1135fs) rs2134300034
NM_032578.4(MYPN):c.3409dup (p.Thr1137fs)
NM_032578.4(MYPN):c.367C>T (p.Arg123Ter) rs2133994592
NM_032578.4(MYPN):c.781_784del (p.Tyr261fs)
NM_144573.4(NEXN):c.1084A>T (p.Lys362Ter)
NM_144573.4(NEXN):c.1123G>T (p.Glu375Ter) rs1571150562
NM_144573.4(NEXN):c.1170del (p.Lys390fs)
NM_144573.4(NEXN):c.1228C>T (p.Gln410Ter) rs1557988499
NM_144573.4(NEXN):c.1233_1234insGCCGGGCCCGGTGGCTCACGCCTGTAATCCCAGCACATTGGGAGGCCGAGACTGGAGGATCACGAGTTCAGGAGATCGATACCATACANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATTTGAACAACTG (p.Arg412delinsAlaGlyProGlyGlySerArgLeuTer) rs2102146999
NM_144573.4(NEXN):c.1348dup (p.Ser450fs) rs1553240600
NM_144573.4(NEXN):c.1450C>T (p.Arg484Ter) rs767792289
NM_144573.4(NEXN):c.1501A>T (p.Arg501Ter)
NM_144573.4(NEXN):c.1502del (p.Arg501fs) rs1425668712
NM_144573.4(NEXN):c.1536dup (p.Met513fs)
NM_144573.4(NEXN):c.166_169del (p.Arg56fs) rs765396527
NM_144573.4(NEXN):c.201G>A (p.Trp67Ter) rs999958582
NM_144573.4(NEXN):c.298G>T (p.Gly100Ter)
NM_144573.4(NEXN):c.354_357del (p.Lys119fs)
NM_144573.4(NEXN):c.461_464del (p.Asn154fs) rs794729088
NM_144573.4(NEXN):c.676del (p.Ser226fs)
NM_144573.4(NEXN):c.717dup (p.Glu240fs)
NM_144573.4(NEXN):c.784C>T (p.Arg262Ter) rs1002648603
NM_144573.4(NEXN):c.798del (p.Glu267fs)
NM_144573.4(NEXN):c.813_814insGG (p.Lys272fs)
NM_144573.4(NEXN):c.962del (p.Arg321fs) rs915318065
NM_152594.3(SPRED1):c.1011C>A (p.Tyr337Ter) rs2141016437
NM_152594.3(SPRED1):c.1015C>T (p.Gln339Ter) rs1566876895
NM_152594.3(SPRED1):c.1035_1047del (p.Gly350fs)
NM_152594.3(SPRED1):c.1043_1044insCAGGGGAAAATGT (p.Cys352_Gln353insTer)
NM_152594.3(SPRED1):c.1044_1046delinsC (p.Arg349fs) rs1566876929
NM_152594.3(SPRED1):c.1044_1056del (p.Gly350fs) rs2141016462
NM_152594.3(SPRED1):c.1053del (p.Lys351fs) rs1566876954
NM_152594.3(SPRED1):c.1073del (p.Pro358fs)
NM_152594.3(SPRED1):c.1091_1106del (p.Tyr364fs)
NM_152594.3(SPRED1):c.1099_1102del (p.Ser367fs) rs1555392783
NM_152594.3(SPRED1):c.1117G>T (p.Glu373Ter)
NM_152594.3(SPRED1):c.1132_1139del (p.His378fs) rs2141016553
NM_152594.3(SPRED1):c.1142C>G (p.Ser381Ter)
NM_152594.3(SPRED1):c.1142del (p.Met380_Ser381insTer)
NM_152594.3(SPRED1):c.1149_1152del (p.Gly385fs) rs1595763925
NM_152594.3(SPRED1):c.1151_1152del (p.Glu384fs) rs878855228
NM_152594.3(SPRED1):c.1151del (p.Glu384fs) rs1595763928
NM_152594.3(SPRED1):c.1175C>A (p.Ser392Ter) rs1345810751
NM_152594.3(SPRED1):c.1207C>T (p.Arg403Ter)
NM_152594.3(SPRED1):c.1211G>A (p.Trp404Ter)
NM_152594.3(SPRED1):c.1224del (p.Ala409fs)
NM_152594.3(SPRED1):c.1232_1241del (p.Ser411fs) rs2141016685
NM_152594.3(SPRED1):c.1235dup (p.Ile413fs)
NM_152594.3(SPRED1):c.1237_1238del (p.Ile413fs) rs2141016692
NM_152594.3(SPRED1):c.148C>T (p.Gln50Ter) rs148646547
NM_152594.3(SPRED1):c.177del (p.Phe59fs)
NM_152594.3(SPRED1):c.177dup (p.Ile60fs) rs1895110802
NM_152594.3(SPRED1):c.190C>T (p.Arg64Ter) rs121434315
NM_152594.3(SPRED1):c.229A>T (p.Lys77Ter) rs727504170
NM_152594.3(SPRED1):c.234dup (p.Asp79fs) rs1566867209
NM_152594.3(SPRED1):c.272del (p.His91fs)
NM_152594.3(SPRED1):c.291del (p.Lys98fs)
NM_152594.3(SPRED1):c.301_307del (p.Leu101fs) rs1566867246
NM_152594.3(SPRED1):c.305C>G (p.Thr102Arg) rs754706111
NM_152594.3(SPRED1):c.305del (p.Thr102fs) rs2140994872
NM_152594.3(SPRED1):c.306_307dup (p.Phe103fs) rs1595746834
NM_152594.3(SPRED1):c.326_329dup (p.Arg110delinsSerTer) rs1595746858
NM_152594.3(SPRED1):c.328del (p.Arg110fs)
NM_152594.3(SPRED1):c.342_343del (p.Gly115fs) rs1555391061
NM_152594.3(SPRED1):c.342_349dup (p.Arg117fs)
NM_152594.3(SPRED1):c.349C>T (p.Arg117Ter) rs121434312
NM_152594.3(SPRED1):c.355dup (p.Ala119fs) rs1895621783
NM_152594.3(SPRED1):c.384dup (p.Glu129fs) rs1566868022
NM_152594.3(SPRED1):c.385G>T (p.Glu129Ter) rs764823722
NM_152594.3(SPRED1):c.395dup (p.Asn132fs) rs1895677481
NM_152594.3(SPRED1):c.3G>A (p.Met1Ile) rs1324903101
NM_152594.3(SPRED1):c.408_409dup (p.Ala137fs)
NM_152594.3(SPRED1):c.40del (p.Tyr14fs) rs2140978331
NM_152594.3(SPRED1):c.421C>T (p.Gln141Ter) rs1060502505
NM_152594.3(SPRED1):c.42T>G (p.Tyr14Ter)
NM_152594.3(SPRED1):c.461del (p.Asp154fs)
NM_152594.3(SPRED1):c.490_491dup (p.Ser165fs)
NM_152594.3(SPRED1):c.52C>T (p.Arg18Ter) rs750777752
NM_152594.3(SPRED1):c.565C>T (p.Gln189Ter)
NM_152594.3(SPRED1):c.613C>T (p.Gln205Ter) rs2141014847
NM_152594.3(SPRED1):c.619A>T (p.Arg207Ter) rs368660900
NM_152594.3(SPRED1):c.637C>T (p.Gln213Ter) rs121434316
NM_152594.3(SPRED1):c.676C>T (p.Gln226Ter) rs1555392609
NM_152594.3(SPRED1):c.684+1G>T
NM_152594.3(SPRED1):c.692del (p.Pro230_Leu231insTer) rs2141016007
NM_152594.3(SPRED1):c.696del (p.Lys232fs)
NM_152594.3(SPRED1):c.719_725del (p.Gln240fs)
NM_152594.3(SPRED1):c.724G>T (p.Glu242Ter)
NM_152594.3(SPRED1):c.783C>A (p.Tyr261Ter) rs1888473716
NM_152594.3(SPRED1):c.794dup (p.Asp265fs) rs2141016108
NM_152594.3(SPRED1):c.796_797del (p.Met266fs) rs864622410
NM_152594.3(SPRED1):c.800G>A (p.Trp267Ter) rs1595763557
NM_152594.3(SPRED1):c.841C>T (p.Gln281Ter) rs755557783
NM_152594.3(SPRED1):c.867dup (p.Ser290fs)
NM_152594.3(SPRED1):c.900dup (p.Lys301Ter) rs1595763656
NM_152594.3(SPRED1):c.903_906del (p.Leu302fs) rs1595763662
NM_152594.3(SPRED1):c.906_910del (p.Leu302fs) rs1595763659
NM_152594.3(SPRED1):c.923_924del (p.Ser308fs) rs1555392759
NM_152594.3(SPRED1):c.96_97insT (p.Pro33fs)
NM_152594.3(SPRED1):c.973C>T (p.Arg325Ter) rs1057518683
NM_182961.4(SYNE1):c.10414C>T (p.Arg3472Ter) rs2096893099
NM_182961.4(SYNE1):c.10492C>T (p.Gln3498Ter)
NM_182961.4(SYNE1):c.1171A>T (p.Arg391Ter)
NM_182961.4(SYNE1):c.1219_1220del (p.Leu407fs) rs1564367104
NM_182961.4(SYNE1):c.12584del (p.Lys4195fs) rs886042380
NM_182961.4(SYNE1):c.12596T>A (p.Leu4199Ter)
NM_182961.4(SYNE1):c.12891_12901del (p.Asp4297fs)
NM_182961.4(SYNE1):c.13021_13022del (p.Thr4341fs)
NM_182961.4(SYNE1):c.14278del (p.His4760fs) rs2153970781
NM_182961.4(SYNE1):c.14290C>T (p.Arg4764Ter)
NM_182961.4(SYNE1):c.14673del (p.Glu4892fs)
NM_182961.4(SYNE1):c.15304C>T (p.Gln5102Ter) rs1270730854
NM_182961.4(SYNE1):c.15586C>T (p.Arg5196Ter)
NM_182961.4(SYNE1):c.15681_15684del (p.Asp5228fs) rs1291249200
NM_182961.4(SYNE1):c.15973C>T (p.Arg5325Ter) rs781354327
NM_182961.4(SYNE1):c.16111C>T (p.Arg5371Ter) rs772587027
NM_182961.4(SYNE1):c.16390-2A>C rs759460806
NM_182961.4(SYNE1):c.16390-2A>G rs759460806
NM_182961.4(SYNE1):c.16815_16821dup (p.Glu5608fs) rs886043923
NM_182961.4(SYNE1):c.16840G>T (p.Glu5614Ter) rs777656140
NM_182961.4(SYNE1):c.16882C>T (p.Gln5628Ter) rs2153836962
NM_182961.4(SYNE1):c.17215C>T (p.Gln5739Ter) rs746328978
NM_182961.4(SYNE1):c.17284G>T (p.Glu5762Ter)
NM_182961.4(SYNE1):c.17373C>A (p.Tyr5791Ter)
NM_182961.4(SYNE1):c.17628_17643del (p.Pro5877fs) rs2153809530
NM_182961.4(SYNE1):c.17713G>T (p.Glu5905Ter)
NM_182961.4(SYNE1):c.17801del (p.Thr5934fs)
NM_182961.4(SYNE1):c.18141_18144del (p.Thr6048fs) rs2153732048
NM_182961.4(SYNE1):c.18431C>G (p.Ser6144Ter) rs2153709458
NM_182961.4(SYNE1):c.18682C>T (p.Gln6228Ter) rs910956017
NM_182961.4(SYNE1):c.18940C>T (p.Gln6314Ter)
NM_182961.4(SYNE1):c.18948dup (p.Leu6317fs)
NM_182961.4(SYNE1):c.19423C>T (p.Arg6475Ter) rs1258745040
NM_182961.4(SYNE1):c.1942C>T (p.Arg648Ter)
NM_182961.4(SYNE1):c.19444del (p.Arg6482fs) rs2153619687
NM_182961.4(SYNE1):c.19899C>G (p.Tyr6633Ter) rs1057520134
NM_182961.4(SYNE1):c.20006dup (p.Ala6670fs) rs1385280819
NM_182961.4(SYNE1):c.20072G>A (p.Trp6691Ter) rs766499430
NM_182961.4(SYNE1):c.20179del (p.Asp6727fs) rs2153537904
NM_182961.4(SYNE1):c.20196C>G (p.Tyr6732Ter)
NM_182961.4(SYNE1):c.20296G>T (p.Glu6766Ter)
NM_182961.4(SYNE1):c.21072G>A (p.Trp7024Ter)
NM_182961.4(SYNE1):c.21781C>T (p.Arg7261Ter) rs138032057
NM_182961.4(SYNE1):c.21819del (p.Asp7273fs)
NM_182961.4(SYNE1):c.225+1del rs2154353746
NM_182961.4(SYNE1):c.24001_24002del (p.Trp8001fs)
NM_182961.4(SYNE1):c.24118A>T (p.Lys8040Ter)
NM_182961.4(SYNE1):c.24221C>G (p.Ser8074Ter) rs1586296730
NM_182961.4(SYNE1):c.24537del (p.Leu8180fs)
NM_182961.4(SYNE1):c.24585C>A (p.Tyr8195Ter)
NM_182961.4(SYNE1):c.24977-13_24996del
NM_182961.4(SYNE1):c.25359G>A (p.Trp8453Ter)
NM_182961.4(SYNE1):c.2536C>T (p.Gln846Ter) rs2098713648
NM_182961.4(SYNE1):c.25816C>T (p.Gln8606Ter)
NM_182961.4(SYNE1):c.2992C>T (p.Gln998Ter) rs2154254291
NM_182961.4(SYNE1):c.3173_3176del (p.Ile1058fs)
NM_182961.4(SYNE1):c.3499_3500del (p.Ala1166_Val1167insTer) rs1554721227
NM_182961.4(SYNE1):c.3641_3651del (p.Phe1214fs)
NM_182961.4(SYNE1):c.4044_4047del (p.Asn1348fs) rs2098527248
NM_182961.4(SYNE1):c.4327del (p.Met1443fs)
NM_182961.4(SYNE1):c.4372_4373del (p.Leu1458fs) rs794727577
NM_182961.4(SYNE1):c.4513G>T (p.Glu1505Ter) rs757744079
NM_182961.4(SYNE1):c.4534C>T (p.Gln1512Ter) rs988770583
NM_182961.4(SYNE1):c.4975_4976+8del rs1592490234
NM_182961.4(SYNE1):c.5237G>A (p.Trp1746Ter) rs2154194664
NM_182961.4(SYNE1):c.551T>A (p.Leu184Ter) rs1466752822
NM_182961.4(SYNE1):c.5525dup (p.Gln1843fs) rs2154182611
NM_182961.4(SYNE1):c.5639_5652del (p.Leu1880fs)
NM_182961.4(SYNE1):c.5895del (p.Leu1966fs) rs2098158268
NM_182961.4(SYNE1):c.6376del (p.Ser2126fs) rs2154170060
NM_182961.4(SYNE1):c.639del (p.His214fs) rs1412791793
NM_182961.4(SYNE1):c.6628G>T (p.Glu2210Ter) rs1417491327
NM_182961.4(SYNE1):c.6868G>T (p.Glu2290Ter) rs2154151091
NM_182961.4(SYNE1):c.706C>T (p.Arg236Ter) rs2154331501
NM_182961.4(SYNE1):c.7402C>T (p.Gln2468Ter)
NM_182961.4(SYNE1):c.7691T>A (p.Leu2564Ter)
NM_182961.4(SYNE1):c.8068C>T (p.Gln2690Ter)
NM_182961.4(SYNE1):c.8287C>T (p.Gln2763Ter) rs946657984
NM_182961.4(SYNE1):c.8636del (p.Lys2879fs) rs2097516516
NM_182961.4(SYNE1):c.8789G>A (p.Trp2930Ter) rs2154115529
NM_182961.4(SYNE1):c.8885del (p.Val2962fs) rs750544827
NM_182961.4(SYNE1):c.9319del (p.Ile3107fs)
Single allele

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