NM_080473.5(GATA5):c.477C>G (p.Phe159Leu)
|
rs112433432
|
0.00088
|
NM_005751.5(AKAP9):c.6176A>G (p.Glu2059Gly)
|
rs73226383
|
0.00070
|
NM_002471.4(MYH6):c.3230A>T (p.Gln1077Leu)
|
rs377716628
|
0.00032
|
NM_000219.6(KCNE1):c.200G>A (p.Arg67His)
|
rs79654911
|
0.00019
|
NM_005751.5(AKAP9):c.1204G>A (p.Glu402Lys)
|
rs146022334
|
0.00019
|
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys)
|
rs45553235
|
0.00018
|
NM_005751.5(AKAP9):c.9763A>G (p.Arg3255Gly)
|
rs201048693
|
0.00018
|
NM_002471.4(MYH6):c.1753G>A (p.Gly585Ser)
|
rs150415679
|
0.00014
|
NM_007078.3(LDB3):c.1676G>A (p.Arg559Gln)
|
rs763908636
|
0.00008
|
NM_020774.4(MIB1):c.1588C>T (p.Arg530Ter)
|
rs201850378
|
0.00007
|
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)
|
rs121909374
|
0.00006
|
NM_005932.4(MIPEP):c.1534C>G (p.His512Asp)
|
rs779598020
|
0.00006
|
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)
|
rs200411226
|
0.00004
|
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met)
|
rs371488302
|
0.00004
|
NM_000256.3(MYBPC3):c.3330+2T>G
|
rs387906397
|
0.00004
|
NM_001267550.2(TTN):c.104978C>T (p.Thr34993Met)
|
rs368945564
|
0.00004
|
NM_005751.5(AKAP9):c.4136C>T (p.Thr1379Met)
|
rs767728528
|
0.00004
|
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)
|
rs17215500
|
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_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.49C>T (p.Arg17Cys)
|
rs45511396
|
0.00003
|
NM_000257.4(MYH7):c.611G>A (p.Arg204His)
|
rs397516260
|
0.00003
|
NM_001148.6(ANK2):c.7729G>A (p.Gly2577Arg)
|
rs768485016
|
0.00003
|
NM_001386795.1(DTNA):c.1637G>A (p.Arg546Gln)
|
rs773504046
|
0.00003
|
NM_002471.4(MYH6):c.1088T>C (p.Met363Thr)
|
rs150272218
|
0.00003
|
NM_002471.4(MYH6):c.2615G>A (p.Arg872His)
|
rs773162706
|
0.00003
|
NM_002471.4(MYH6):c.4750G>A (p.Glu1584Lys)
|
rs1280321639
|
0.00003
|
NM_000257.4(MYH7):c.706G>A (p.Val236Ile)
|
rs397516261
|
0.00002
|
NM_000335.5(SCN5A):c.4168G>A (p.Gly1390Arg)
|
rs780405533
|
0.00002
|
NM_005751.5(AKAP9):c.48+5G>A
|
rs377559019
|
0.00002
|
NM_005932.4(MIPEP):c.916C>T (p.Leu306Phe)
|
rs143912947
|
0.00002
|
NM_007078.3(LDB3):c.1696A>G (p.Met566Val)
|
rs775232208
|
0.00002
|
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)
|
rs12720458
|
0.00001
|
NM_000218.3(KCNQ1):c.386+16231G>A
|
rs1490391959
|
0.00001
|
NM_000218.3(KCNQ1):c.683+5G>A
|
rs397508122
|
0.00001
|
NM_000256.3(MYBPC3):c.3112G>A (p.Val1038Met)
|
rs370223247
|
0.00001
|
NM_000256.3(MYBPC3):c.3217C>T (p.Arg1073Trp)
|
rs368973872
|
0.00001
|
NM_000256.3(MYBPC3):c.3491-2A>T
|
rs397516022
|
0.00001
|
NM_000256.3(MYBPC3):c.495G>C (p.Glu165Asp)
|
rs730880619
|
0.00001
|
NM_000257.4(MYH7):c.1816G>A (p.Val606Met)
|
rs121913627
|
0.00001
|
NM_000257.4(MYH7):c.3138G>A (p.Met1046Ile)
|
rs201195256
|
0.00001
|
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp)
|
rs145213771
|
0.00001
|
NM_000257.4(MYH7):c.541G>A (p.Gly181Arg)
|
rs760187215
|
0.00001
|
NM_000257.4(MYH7):c.5655G>A (p.Ala1885=)
|
rs753392652
|
0.00001
|
NM_001077653.2(TBX20):c.493C>T (p.His165Tyr)
|
rs370219446
|
0.00001
|
NM_001136239.4(PRDM6):c.1781T>G (p.Val594Gly)
|
rs1470510188
|
0.00001
|
NM_001148.6(ANK2):c.1459G>T (p.Gly487Cys)
|
rs1470709043
|
0.00001
|
NM_001267550.2(TTN):c.42872C>T (p.Ala14291Val)
|
rs746486506
|
0.00001
|
NM_001308093.3(GATA4):c.931A>T (p.Met311Leu)
|
rs387906772
|
0.00001
|
NM_001386795.1(DTNA):c.1352T>C (p.Leu451Pro)
|
rs2096416305
|
0.00001
|
NM_001492.6(GDF1):c.997G>A (p.Asp333Asn)
|
rs1429110767
|
0.00001
|
NM_002471.4(MYH6):c.1411-12T>C
|
rs749244720
|
0.00001
|
NM_002471.4(MYH6):c.1578G>C (p.Glu526Asp)
|
rs753062079
|
0.00001
|
NM_003221.4(TFAP2B):c.917C>T (p.Thr306Met)
|
rs1232197674
|
0.00001
|
NM_007078.3(LDB3):c.1851T>C (p.Ile617=)
|
rs145402041
|
0.00001
|
NM_012082.4(ZFPM2):c.2201G>A (p.Arg734His)
|
rs750762877
|
0.00001
|
NM_020774.4(MIB1):c.2779+1G>C
|
rs570099048
|
0.00001
|
GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1
|
|
|
GRCh37/hg19 8p23.1(chr8:8403375-11805960)
|
|
|
GRCh37/hg19 8p23.3-23.1(chr8:194617-7787444)
|
|
|
NM_000214.3(JAG1):c.1036C>T (p.His346Tyr)
|
rs2067347304
|
|
NM_000214.3(JAG1):c.3001_3002dup (p.Cys1002fs)
|
rs2067268275
|
|
NM_000218.3(KCNQ1):c.1022C>G (p.Ala341Gly)
|
rs12720459
|
|
NM_000218.3(KCNQ1):c.1051T>C (p.Phe351Leu)
|
rs779383393
|
|
NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter)
|
rs397508075
|
|
NM_000238.4(KCNH2):c.2966-12C>G
|
rs1800949572
|
|
NM_000238.4(KCNH2):c.991del (p.Ser331fs)
|
|
|
NM_000256.3(MYBPC3):c.1234T>C (p.Phe412Leu)
|
rs2095890795
|
|
NM_000256.3(MYBPC3):c.1930C>T (p.Pro644Ser)
|
rs2095886536
|
|
NM_000256.3(MYBPC3):c.226C>T (p.Gln76Ter)
|
|
|
NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter)
|
rs397515982
|
|
NM_000256.3(MYBPC3):c.3043dup (p.Ala1015fs)
|
rs869025468
|
|
NM_000256.3(MYBPC3):c.3330+5G>C
|
rs373746463
|
|
NM_000256.3(MYBPC3):c.3372C>A (p.Cys1124Ter)
|
rs727504289
|
|
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del)
|
rs730880674
|
|
NM_000256.3(MYBPC3):c.3413G>C (p.Arg1138Pro)
|
rs187705120
|
|
NM_000256.3(MYBPC3):c.484C>T (p.Gln162Ter)
|
rs730880618
|
|
NM_000256.3(MYBPC3):c.833del (p.Gly278fs)
|
rs727503212
|
|
NM_000257.4(MYH7):c.1141G>A (p.Ala381Thr)
|
rs727504753
|
|
NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys)
|
rs727503253
|
|
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln)
|
rs397516171
|
|
NM_000257.4(MYH7):c.2951G>T (p.Gly984Val)
|
rs1892575677
|
|
NM_000257.4(MYH7):c.345+1G>A
|
rs112907315
|
|
NM_000257.4(MYH7):c.4309G>C (p.Ala1437Pro)
|
|
|
NM_000257.4(MYH7):c.4361C>A (p.Ala1454Asp)
|
rs1892259980
|
|
NM_000257.4(MYH7):c.4901G>A (p.Arg1634His)
|
rs545875689
|
|
NM_000257.4(MYH7):c.5314G>A (p.Glu1772Lys)
|
|
|
NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys)
|
rs397516254
|
|
NM_000257.4(MYH7):c.625C>A (p.Gln209Lys)
|
rs878853840
|
|
NM_000257.4(MYH7):c.732+1del
|
rs397516266
|
|
NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg)
|
rs79891110
|
|
NM_000719.7(CACNA1C):c.1420G>T (p.Val474Phe)
|
rs765581751
|
|
NM_000719.7(CACNA1C):c.1917C>T (p.Asn639=)
|
rs1057524804
|
|
NM_000719.7(CACNA1C):c.5435G>A (p.Ser1812Asn)
|
rs1556123007
|
|
NM_000891.3(KCNJ2):c.896A>G (p.Glu299Gly)
|
rs786205817
|
|
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.550G>A (p.Glu184Lys)
|
rs2035529273
|
|
NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn)
|
rs199476317
|
|
NM_001148.6(ANK2):c.10375C>G (p.Pro3459Ala)
|
rs761631834
|
|
NM_001148.6(ANK2):c.4341del (p.Asn1447_Leu1448insTer)
|
rs2094804945
|
|
NM_001148.6(ANK2):c.7985C>T (p.Ser2662Phe)
|
rs1564029811
|
|
NM_001167623.2(CACNA1C):c.1204G>A (p.Gly402Ser)
|
rs587782933
|
|
NM_001267550.2(TTN):c.45316_45320dup (p.Arg15108fs)
|
rs794729390
|
|
NM_001276345.2(TNNT2):c.433del (p.Ala145fs)
|
|
|
NM_001276345.2(TNNT2):c.493G>T (p.Glu165Ter)
|
rs1558225837
|
|
NM_001292034.3(TAB2):c.1154C>T (p.Pro385Leu)
|
rs71568273
|
|
NM_001292034.3(TAB2):c.1491T>A (p.Tyr497Ter)
|
rs1562443558
|
|
NM_001292034.3(TAB2):c.1764+1G>A
|
rs1782223593
|
|
NM_001292034.3(TAB2):c.2051G>A (p.Cys684Tyr)
|
rs1562459581
|
|
NM_001292034.3(TAB2):c.287G>A (p.Arg96Lys)
|
rs1781470267
|
|
NM_001292034.3(TAB2):c.473_474del (p.His158fs)
|
|
|
NM_001292034.3(TAB2):c.679C>T (p.Arg227Ter)
|
rs1479104927
|
|
NM_001308093.3(GATA4):c.851G>A (p.Arg284His)
|
rs180765750
|
|
NM_001379200.1(TBX1):c.437+1G>C
|
|
|
NM_001379200.1(TBX1):c.736T>C (p.Tyr246His)
|
|
|
NM_001379200.1(TBX1):c.902C>G (p.Ala301Gly)
|
rs1936812731
|
|
NM_001386795.1(DTNA):c.442T>A (p.Leu148Ile)
|
|
|
NM_001386795.1(DTNA):c.604-10T>C
|
rs2095586366
|
|
NM_001451.3(FOXF1):c.-2C>T
|
rs1969543882
|
|
NM_001451.3(FOXF1):c.668C>A (p.Ser223Ter)
|
rs1393788111
|
|
NM_001492.6(GDF1):c.649C>G (p.Leu217Val)
|
rs2055909840
|
|
NM_002471.4(MYH6):c.1410+1G>A
|
rs1566513862
|
|
NM_002471.4(MYH6):c.3946G>A (p.Asp1316Asn)
|
|
|
NM_002471.4(MYH6):c.478A>G (p.Asn160Asp)
|
|
|
NM_002471.4(MYH6):c.5452G>C (p.Glu1818Gln)
|
rs201494081
|
|
NM_002471.4(MYH6):c.864C>G (p.Tyr288Ter)
|
rs186265521
|
|
NM_003098.3(SNTA1):c.185C>A (p.Ala62Glu)
|
rs1990630503
|
|
NM_003221.4(TFAP2B):c.1105G>C (p.Asp369His)
|
rs1762765738
|
|
NM_003221.4(TFAP2B):c.824C>A (p.Ala275Asp)
|
rs80338914
|
|
NM_005157.6(ABL1):c.1009G>A (p.Ala337Thr)
|
rs1060499548
|
|
NM_005157.6(ABL1):c.677A>G (p.Tyr226Cys)
|
rs1060499547
|
|
NM_005159.5(ACTC1):c.312del (p.Thr105fs)
|
rs1891747424
|
|
NM_005159.5(ACTC1):c.382A>G (p.Thr128Ala)
|
rs1595761333
|
|
NM_005159.5(ACTC1):c.635G>A (p.Arg212His)
|
rs397517067
|
|
NM_005159.5(ACTC1):c.725A>G (p.Tyr242Cys)
|
rs2140430561
|
|
NM_005751.5(AKAP9):c.1243G>A (p.Glu415Lys)
|
|
|
NM_005751.5(AKAP9):c.9838C>G (p.Gln3280Glu)
|
rs1816657238
|
|
NM_005932.4(MIPEP):c.1027A>G (p.Lys343Glu)
|
rs1057518741
|
|
NM_005932.4(MIPEP):c.1745T>G (p.Leu582Arg)
|
rs1057518739
|
|
NM_005932.4(MIPEP):c.1804G>T (p.Glu602Ter)
|
rs114638163
|
|
NM_005932.4(MIPEP):c.212T>A (p.Leu71Gln)
|
rs1057518740
|
|
NM_005992.1(TBX1):c.1111G>A (p.Asp371Asn)
|
rs1937156881
|
|
NM_006079.5(CITED2):c.114CCA[1] (p.His39del)
|
rs749590293
|
|
NM_006079.5(CITED2):c.388C>T (p.Pro130Ser)
|
|
|
NM_007078.3(LDB3):c.608C>G (p.Ser203Trp)
|
|
|
NM_007078.3(LDB3):c.805A>C (p.Asn269His)
|
rs1367297073
|
|
NM_012082.4(ZFPM2):c.1046A>C (p.Asn349Thr)
|
rs1290587796
|
|
NM_015335.5(MED13L):c.5990dup (p.Leu1997fs)
|
rs1876520009
|
|
NM_020774.4(MIB1):c.2810A>G (p.Asp937Gly)
|
|
|
NM_020774.4(MIB1):c.2878C>T (p.Gln960Ter)
|
rs1430105900
|
|
NM_021005.4(NR2F2):c.1094T>A (p.Leu365His)
|
|
|
NM_022114.4(PRDM16):c.3142del (p.Leu1048fs)
|
|
|
NM_022114.4(PRDM16):c.534C>A (p.Cys178Ter)
|
rs1643176372
|
|