NM_012082.4(ZFPM2):c.1969A>G (p.Ser657Gly)
|
rs28374544
|
0.04474
|
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys)
|
rs28936670
|
0.01082
|
NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile)
|
rs35530544
|
0.01031
|
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn)
|
rs1805128
|
0.00841
|
NM_001368067.1(LDB3):c.349G>A (p.Asp117Asn)
|
rs121908338
|
0.00584
|
NM_033337.3(CAV3):c.233C>T (p.Thr78Met)
|
rs72546668
|
0.00317
|
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile)
|
rs187043152
|
0.00306
|
NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly)
|
rs121908601
|
0.00293
|
NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys)
|
rs45454496
|
0.00235
|
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly)
|
rs56157422
|
0.00217
|
NM_001308093.3(GATA4):c.1040C>T (p.Ala347Val)
|
rs115372595
|
0.00144
|
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr)
|
rs199865688
|
0.00122
|
NM_001148.6(ANK2):c.11716C>T (p.Arg3906Trp)
|
rs121912706
|
0.00094
|
NM_005257.6(GATA6):c.533C>T (p.Ala178Val)
|
rs387906815
|
0.00087
|
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly)
|
rs72544141
|
0.00085
|
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn)
|
rs121912705
|
0.00077
|
NM_004387.4(NKX2-5):c.61G>C (p.Glu21Gln)
|
rs104893904
|
0.00073
|
NM_005257.6(GATA6):c.592C>G (p.Leu198Val)
|
rs387906814
|
0.00068
|
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr)
|
rs74315448
|
0.00063
|
NM_001492.6(GDF1):c.681C>A (p.Cys227Ter)
|
rs121434422
|
0.00058
|
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val)
|
rs77331749
|
0.00056
|
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu)
|
rs45487699
|
0.00049
|
NM_001492.6(GDF1):c.1091T>C (p.Met364Thr)
|
rs374016704
|
0.00028
|
NM_012464.5(TLL1):c.713T>C (p.Val238Ala)
|
rs137852952
|
0.00025
|
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg)
|
rs200625851
|
0.00024
|
NM_172201.2(KCNE2):c.161T>C (p.Met54Thr)
|
rs74315447
|
0.00024
|
NM_001492.6(GDF1):c.485G>A (p.Gly162Asp)
|
rs121434424
|
0.00021
|
NM_000165.5(GJA1):c.1127G>A (p.Arg376Gln)
|
rs104893965
|
0.00019
|
NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu)
|
rs121908603
|
0.00019
|
NM_000335.5(SCN5A):c.5474G>A (p.Arg1825His)
|
rs137854610
|
0.00016
|
NM_000165.5(GJA1):c.1085G>A (p.Arg362Gln)
|
rs2227885
|
0.00014
|
NM_005257.6(GATA6):c.551G>A (p.Ser184Asn)
|
rs387906816
|
0.00014
|
NM_020774.4(MIB1):c.2827G>T (p.Val943Phe)
|
rs200035428
|
0.00013
|
NM_001308093.3(GATA4):c.1223C>A (p.Pro408Gln)
|
rs115099192
|
0.00010
|
NM_007078.3(LDB3):c.1823C>T (p.Pro608Leu)
|
rs145983824
|
0.00009
|
NM_022114.4(PRDM16):c.3301G>A (p.Val1101Met)
|
rs201654872
|
0.00009
|
NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg)
|
rs199830292
|
0.00008
|
NM_020774.4(MIB1):c.1588C>T (p.Arg530Ter)
|
rs201850378
|
0.00007
|
NM_000218.3(KCNQ1):c.1766G>A (p.Gly589Asp)
|
rs120074190
|
0.00006
|
NM_000335.5(SCN5A):c.5452G>A (p.Asp1818Asn)
|
rs137854619
|
0.00006
|
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn)
|
rs74315445
|
0.00005
|
NM_000218.3(KCNQ1):c.613G>A (p.Val205Met)
|
rs151344631
|
0.00004
|
NM_001308093.3(GATA4):c.487C>T (p.Pro163Ser)
|
rs387906769
|
0.00004
|
NM_004387.4(NKX2-5):c.848C>A (p.Pro283Gln)
|
rs375086983
|
0.00004
|
NM_007078.3(LDB3):c.2017G>A (p.Asp673Asn)
|
rs45514002
|
0.00004
|
NM_000218.3(KCNQ1):c.692G>A (p.Arg231His)
|
rs199472709
|
0.00003
|
NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn)
|
rs56208331
|
0.00003
|
NM_005159.5(ACTC1):c.941G>A (p.Arg314His)
|
rs121912673
|
0.00003
|
NM_022114.4(PRDM16):c.872C>T (p.Pro291Leu)
|
rs397514744
|
0.00003
|
NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys)
|
rs17221854
|
0.00002
|
NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln)
|
rs120074178
|
0.00002
|
NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr)
|
rs120074187
|
0.00002
|
NM_001308093.3(GATA4):c.1078G>A (p.Glu360Lys)
|
rs368489876
|
0.00002
|
NM_001386795.1(DTNA):c.362C>T (p.Pro121Leu)
|
rs104894654
|
0.00002
|
NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=)
|
rs1800171
|
0.00001
|
NM_000218.3(KCNQ1):c.1034G>A (p.Gly345Glu)
|
rs120074183
|
0.00001
|
NM_000218.3(KCNQ1):c.806G>A (p.Gly269Asp)
|
rs120074194
|
0.00001
|
NM_000219.6(KCNE1):c.221C>T (p.Ser74Leu)
|
rs74315446
|
0.00001
|
NM_000238.4(KCNH2):c.2255G>A (p.Arg752Gln)
|
rs121912512
|
0.00001
|
NM_000238.4(KCNH2):c.2842C>T (p.Arg948Cys)
|
rs121912514
|
0.00001
|
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs)
|
rs397515990
|
0.00001
|
NM_000257.4(MYH7):c.728G>A (p.Arg243His)
|
rs267606910
|
0.00001
|
NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His)
|
rs28937316
|
0.00001
|
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys)
|
rs137854601
|
0.00001
|
NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His)
|
rs1057517711
|
0.00001
|
NM_001077653.2(TBX20):c.456C>G (p.Ile152Met)
|
rs137852954
|
0.00001
|
NM_001136239.4(PRDM6):c.1385A>G (p.Gln462Arg)
|
rs879253872
|
0.00001
|
NM_001136271.3(NKX2-6):c.453_454insT (p.Lys152Ter)
|
rs587777422
|
0.00001
|
NM_001292034.3(TAB2):c.622C>T (p.Pro208Ser)
|
rs267607101
|
0.00001
|
NM_001292034.3(TAB2):c.688C>A (p.Gln230Lys)
|
rs267607100
|
0.00001
|
NM_001386795.1(DTNA):c.146A>G (p.Asn49Ser)
|
rs775975702
|
0.00001
|
NM_001492.6(GDF1):c.800G>A (p.Cys267Tyr)
|
rs121434423
|
0.00001
|
NM_003098.3(SNTA1):c.1169C>T (p.Ala390Val)
|
rs121434500
|
0.00001
|
NM_004387.4(NKX2-5):c.656C>T (p.Ala219Val)
|
rs104893902
|
0.00001
|
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys)
|
rs193922680
|
0.00001
|
NM_005751.5(AKAP9):c.4709C>T (p.Ser1570Leu)
|
rs121908566
|
0.00001
|
NM_007078.3(LDB3):c.617C>T (p.Thr206Ile)
|
rs121908337
|
0.00001
|
NM_015335.5(MED13L):c.5615G>A (p.Arg1872His)
|
rs28940310
|
0.00001
|
NM_015335.5(MED13L):c.6068A>G (p.Asp2023Gly)
|
rs121918333
|
0.00001
|
NM_022114.4(PRDM16):c.2447A>G (p.Asn816Ser)
|
rs397514743
|
0.00001
|
NM_033337.3(CAV3):c.236T>G (p.Leu79Arg)
|
rs121909282
|
0.00001
|
NM_174934.4(SCN4B):c.535C>T (p.Leu179Phe)
|
rs121434386
|
0.00001
|
A103V
|
|
|
CITED2, 27-BP INS, NT534
|
|
|
KCNQ1, IVS1
|
|
|
NG_009091.1(KCNE1):g.[66853A>C;66857T>C]
|
rs281865421
|
|
NM_000214.3(JAG1):c.821G>A (p.Gly274Asp)
|
rs28939668
|
|
NM_000218.2(KCNQ1):c.[1249G>A;760G>A]
|
|
|
NM_000218.3(KCNQ1):c.1018_1020del (p.Phe340del)
|
rs397508069
|
|
NM_000218.3(KCNQ1):c.1022C>A (p.Ala341Glu)
|
rs12720459
|
|
NM_000218.3(KCNQ1):c.1022C>T (p.Ala341Val)
|
rs12720459
|
|
NM_000218.3(KCNQ1):c.1630_1635delinsGTTGAGA (p.Gln544fs)
|
rs397515637
|
|
NM_000218.3(KCNQ1):c.1663C>T (p.Arg555Cys)
|
rs120074185
|
|
NM_000218.3(KCNQ1):c.1760C>T (p.Thr587Met)
|
rs120074189
|
|
NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs)
|
rs397508103
|
|
NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs)
|
rs397508104
|
|
NM_000218.3(KCNQ1):c.202GCCGCGCCC[1] (p.68AAP[1])
|
rs397508107
|
|
NM_000218.3(KCNQ1):c.350C>T (p.Pro117Leu)
|
rs120074191
|
|
NM_000218.3(KCNQ1):c.451_452del (p.Leu151fs)
|
rs397508110
|
|
NM_000218.3(KCNQ1):c.500_502del (p.Phe167_Gly168delinsTrp)
|
rs397508113
|
|
NM_000218.3(KCNQ1):c.532G>C (p.Ala178Pro)
|
rs120074177
|
|
NM_000218.3(KCNQ1):c.533delinsGG (p.Ala178fs)
|
rs397508115
|
|
NM_000218.3(KCNQ1):c.562del (p.Trp188fs)
|
rs397508116
|
|
NM_000218.3(KCNQ1):c.565G>A (p.Gly189Arg)
|
rs104894252
|
|
NM_000218.3(KCNQ1):c.567dup (p.Arg190fs)
|
rs397508117
|
|
NM_000218.3(KCNQ1):c.728G>C (p.Arg243Pro)
|
rs120074196
|
|
NM_000218.3(KCNQ1):c.760G>A (p.Val254Met)
|
rs120074179
|
|
NM_000218.3(KCNQ1):c.805G>A (p.Gly269Ser)
|
rs120074193
|
|
NM_000218.3(KCNQ1):c.817C>T (p.Leu273Phe)
|
rs120074180
|
|
NM_000218.3(KCNQ1):c.914G>C (p.Trp305Ser)
|
rs120074186
|
|
NM_000218.3(KCNQ1):c.916G>A (p.Gly306Arg)
|
rs120074181
|
|
NM_000218.3(KCNQ1):c.922-1G>C
|
rs387906290
|
|
NM_000218.3(KCNQ1):c.935C>T (p.Thr312Ile)
|
rs120074182
|
|
NM_000218.3(KCNQ1):c.940G>A (p.Gly314Ser)
|
rs120074184
|
|
NM_000219.6(KCNE1):c.20C>T (p.Thr7Ile)
|
rs28933384
|
|
NM_000238.3(KCNH2):c.1498_1524del27 (p.Ile500_Phe508del)
|
rs794728438
|
|
NM_000238.4(KCNH2):c.1261del (p.Thr421fs)
|
rs1554426258
|
|
NM_000238.4(KCNH2):c.1408A>G (p.Asn470Asp)
|
rs121912505
|
|
NM_000238.4(KCNH2):c.1672G>C (p.Ala558Pro)
|
rs121912516
|
|
NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val)
|
rs121912504
|
|
NM_000238.4(KCNH2):c.1714G>C (p.Gly572Arg)
|
rs9333649
|
|
NM_000238.4(KCNH2):c.1744C>T (p.Arg582Cys)
|
rs121912508
|
|
NM_000238.4(KCNH2):c.1778T>G (p.Ile593Arg)
|
rs28928904
|
|
NM_000238.4(KCNH2):c.1831T>C (p.Tyr611His)
|
rs199472942
|
|
NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val)
|
rs199472944
|
|
NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser)
|
rs121912507
|
|
NM_000238.4(KCNH2):c.193A>C (p.Thr65Pro)
|
rs121912511
|
|
NM_000238.4(KCNH2):c.2398+1G>C
|
rs794728391
|
|
NM_000238.4(KCNH2):c.2453C>T (p.Ser818Leu)
|
rs121912510
|
|
NM_000238.4(KCNH2):c.2464G>A (p.Val822Met)
|
rs121912506
|
|
NM_000238.4(KCNH2):c.2582A>T (p.Asn861Ile)
|
rs121912513
|
|
NM_000238.4(KCNH2):c.2592+1G>A
|
rs1554424772
|
|
NM_000238.4(KCNH2):c.2775dup (p.Pro926fs)
|
rs794728455
|
|
NM_000238.4(KCNH2):c.298C>G (p.Arg100Gly)
|
rs121912515
|
|
NM_000238.4(KCNH2):c.3003G>A (p.Trp1001Ter)
|
rs121912509
|
|
NM_000256.3(MYBPC3):c.2618C>T (p.Pro873Leu)
|
rs371401403
|
|
NM_000256.3(MYBPC3):c.2843A>C (p.Asn948Thr)
|
rs121909376
|
|
NM_000256.3(MYBPC3):c.3791G>T (p.Cys1264Phe)
|
rs397514751
|
|
NM_000257.4(MYH7):c.1594T>C (p.Ser532Pro)
|
rs121913642
|
|
NM_000257.4(MYH7):c.1925C>T (p.Ser642Leu)
|
rs121913646
|
|
NM_000257.4(MYH7):c.2292C>G (p.Phe764Leu)
|
rs121913643
|
|
NM_000257.4(MYH7):c.5296G>A (p.Ala1766Thr)
|
rs267606909
|
|
NM_000257.4(MYH7):c.5378T>C (p.Leu1793Pro)
|
rs121913654
|
|
NM_000257.4(MYH7):c.5754C>R (p.Asn1918Lys)
|
rs138110910
|
|
NM_000257.4(MYH7):c.667G>A (p.Ala223Thr)
|
rs121913645
|
|
NM_000257.4(MYH7):c.732+1G>A
|
rs730880850
|
|
NM_000257.4(MYH7):c.847T>G (p.Tyr283Asp)
|
rs397515482
|
|
NM_000335.5(SCN5A):c.2821_2822delinsAA (p.Ser941Asn)
|
rs137854605
|
|
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser)
|
rs137854609
|
|
NM_000335.5(SCN5A):c.3971A>G (p.Asn1324Ser)
|
rs28937317
|
|
NM_000335.5(SCN5A):c.4516_4524del (p.Gln1506_Pro1508del)
|
rs397514251
|
|
NM_000335.5(SCN5A):c.4865G>A (p.Arg1622Gln)
|
rs137854600
|
|
NM_000335.5(SCN5A):c.5381A>G (p.Tyr1794Cys)
|
rs137854614
|
|
NM_000335.5(SCN5A):c.5382_5384dup (p.Tyr1794_Glu1795insAsp)
|
rs397514449
|
|
NM_000719.7(CACNA1C):c.1204G>A (p.Gly402Ser)
|
rs80315385
|
|
NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg)
|
rs79891110
|
|
NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys)
|
rs786205748
|
|
NM_000719.7(CACNA1C):c.1745C>A (p.Ala582Asp)
|
rs1568469857
|
|
NM_000719.7(CACNA1C):c.1928C>T (p.Ser643Phe)
|
|
|
NM_000719.7(CACNA1C):c.2500A>G (p.Lys834Glu)
|
rs1555836187
|
|
NM_000719.7(CACNA1C):c.2570C>G (p.Pro857Arg)
|
rs750835733
|
|
NM_000719.7(CACNA1C):c.2570C>T (p.Pro857Leu)
|
rs750835733
|
|
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His)
|
rs786205753
|
|
NM_000719.7(CACNA1C):c.3343G>A (p.Glu1115Lys)
|
rs199473391
|
|
NM_000719.7(CACNA1C):c.3497T>C (p.Ile1166Thr)
|
rs797044881
|
|
NM_000719.7(CACNA1C):c.4425C>G (p.Ile1475Met)
|
rs1569139160
|
|
NM_000891.3(KCNJ2):c.161G>T (p.Cys54Phe)
|
rs199473650
|
|
NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp)
|
rs104894580
|
|
NM_000891.3(KCNJ2):c.212A>T (p.Asp71Val)
|
rs104894575
|
|
NM_000891.3(KCNJ2):c.224C>G (p.Thr75Arg)
|
rs104894585
|
|
NM_000891.3(KCNJ2):c.285_296del (p.Trp96_Phe99del)
|
rs2144376746
|
|
NM_000891.3(KCNJ2):c.557C>T (p.Pro186Leu)
|
rs104894581
|
|
NM_000891.3(KCNJ2):c.646A>C (p.Asn216His)
|
rs104894583
|
|
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp)
|
rs104894578
|
|
NM_000891.3(KCNJ2):c.899G>T (p.Gly300Val)
|
rs104894579
|
|
NM_000891.3(KCNJ2):c.904G>A (p.Val302Met)
|
rs104894582
|
|
NM_000891.3(KCNJ2):c.913A>C (p.Thr305Pro)
|
rs199473387
|
|
NM_000891.3(KCNJ2):c.939_944del (p.Ser314_Tyr315del)
|
rs2074390325
|
|
NM_001018005.2(TPM1):c.118G>A (p.Glu40Lys)
|
rs104894501
|
|
NM_001018005.2(TPM1):c.160G>A (p.Glu54Lys)
|
rs104894505
|
|
NM_001018005.2(TPM1):c.337C>G (p.Leu113Val)
|
rs397516369
|
|
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn)
|
rs397516373
|
|
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys)
|
rs199476315
|
|
NM_001018005.2(TPM1):c.742A>G (p.Lys248Glu)
|
rs199476319
|
|
NM_001077653.2(TBX20):c.363C>G (p.Ile121Met)
|
rs267607106
|
|
NM_001077653.2(TBX20):c.583C>T (p.Gln195Ter)
|
rs137852955
|
|
NM_001136239.4(PRDM6):c.1646G>A (p.Arg549Gln)
|
rs879255278
|
|
NM_001136239.4(PRDM6):c.788G>C (p.Cys263Ser)
|
rs879255279
|
|
NM_001136271.3(NKX2-6):c.451T>C (p.Phe151Leu)
|
rs267606914
|
|
NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn)
|
rs121964855
|
|
NM_001276345.2(TNNT2):c.316G>A (p.Glu106Lys)
|
rs869312881
|
|
NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp)
|
rs74315380
|
|
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp)
|
rs74315379
|
|
NM_001276345.2(TNNT2):c.644G>T (p.Arg215Leu)
|
rs121964860
|
|
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del)
|
rs45578238
|
|
NM_001276345.2(TNNT2):c.838G>A (p.Asp280Asn)
|
rs121964861
|
|
NM_001292034.3(TAB2):c.1398dup (p.Thr467fs)
|
rs1781524947
|
|
NM_001292034.3(TAB2):c.1491T>A (p.Tyr497Ter)
|
rs1562443558
|
|
NM_001292034.3(TAB2):c.446C>G (p.Ser149Ter)
|
rs2114883576
|
|
NM_001308093.3(GATA4):c.1078del (p.Glu360fs)
|
rs1585703301
|
|
NM_001308093.3(GATA4):c.127C>T (p.Arg43Trp)
|
rs387906770
|
|
NM_001308093.3(GATA4):c.1328C>T (p.Ala443Val)
|
rs146017816
|
|
NM_001308093.3(GATA4):c.155C>T (p.Ser52Phe)
|
rs104894074
|
|
NM_001308093.3(GATA4):c.357CGC[5] (p.Ala126dup)
|
rs1182566703
|
|
NM_001308093.3(GATA4):c.842C>T (p.Thr281Met)
|
rs387906771
|
|
NM_001308093.3(GATA4):c.889G>A (p.Gly297Ser)
|
rs104894073
|
|
NM_001308093.3(GATA4):c.889G>C (p.Gly297Arg)
|
rs104894073
|
|
NM_001308093.3(GATA4):c.889G>T (p.Gly297Cys)
|
rs104894073
|
|
NM_001308093.3(GATA4):c.931A>G (p.Met311Val)
|
rs387906772
|
|
NM_001308093.3(GATA4):c.949C>G (p.Gln317Glu)
|
rs56298569
|
|
NM_001368067.1(LDB3):c.383A>T (p.Lys128Met)
|
rs121908339
|
|
NM_001379200.1(TBX1):c.1426_1455dup (p.Ala485_Asn486insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
|
rs746335599
|
|
NM_001451.3(FOXF1):c.1031_1032del (p.Phe344fs)
|
rs1597292524
|
|
NM_001451.3(FOXF1):c.1057_1078dup (p.Gly360fs)
|
rs1969592103
|
|
NM_001451.3(FOXF1):c.1138T>C (p.Ter380Arg)
|
rs121909337
|
|
NM_001451.3(FOXF1):c.225C>A (p.Tyr75Ter)
|
rs121909336
|
|
NM_001451.3(FOXF1):c.253T>C (p.Phe85Leu)
|
rs1969550135
|
|
NM_001451.3(FOXF1):c.850dup (p.Tyr284fs)
|
rs2143186824
|
|
NM_001743.6(CALM2):c.287A>T (p.Asp96Val)
|
rs730882254
|
|
NM_001743.6(CALM2):c.293A>G (p.Asn98Ser)
|
rs398124647
|
|
NM_001743.6(CALM2):c.293A>T (p.Asn98Ile)
|
rs398124647
|
|
NM_001743.6(CALM2):c.389A>G (p.Asp130Gly)
|
rs1573214163
|
|
NM_001743.6(CALM2):c.396T>G (p.Asp132Glu)
|
rs398124648
|
|
NM_001743.6(CALM2):c.400G>C (p.Asp134His)
|
rs398124650
|
|
NM_001743.6(CALM2):c.407A>C (p.Gln136Pro)
|
rs398124649
|
|
NM_002471.4(MYH6):c.2459T>A (p.Ile820Asn)
|
rs267606903
|
|
NM_003221.4(TFAP2B):c.218C>G (p.Pro73Arg)
|
rs80338910
|
|
NM_003221.4(TFAP2B):c.439_442del (p.Pro147fs)
|
rs879253871
|
|
NM_003221.4(TFAP2B):c.541-2A>T
|
rs879253870
|
|
NM_003221.4(TFAP2B):c.601+5G>A
|
rs80338911
|
|
NM_003221.4(TFAP2B):c.706C>A (p.Arg236Ser)
|
rs80338912
|
|
NM_003221.4(TFAP2B):c.706C>T (p.Arg236Cys)
|
rs80338912
|
|
NM_003221.4(TFAP2B):c.824C>A (p.Ala275Asp)
|
rs80338914
|
|
NM_003221.4(TFAP2B):c.854G>A (p.Arg285Gln)
|
rs80338915
|
|
NM_003221.4(TFAP2B):c.898C>T (p.Arg300Cys)
|
rs80338917
|
|
NM_004387.4(NKX2-5):c.175C>G (p.Pro59Ala)
|
rs387906775
|
|
NM_004387.4(NKX2-5):c.215_221del (p.Glu72fs)
|
rs606231358
|
|
NM_004387.4(NKX2-5):c.228_229del (p.Pro77fs)
|
rs606231359
|
|
NM_004387.4(NKX2-5):c.262del (p.Ala88fs)
|
rs606231360
|
|
NM_004387.4(NKX2-5):c.380C>A (p.Ala127Glu)
|
rs387906774
|
|
NM_004387.4(NKX2-5):c.44A>T (p.Lys15Ile)
|
rs387906773
|
|
NM_004387.4(NKX2-5):c.508C>T (p.Gln170Ter)
|
rs104893901
|
|
NM_004387.4(NKX2-5):c.533C>T (p.Thr178Met)
|
rs104893900
|
|
NM_004387.4(NKX2-5):c.568C>T (p.Arg190Cys)
|
rs104893906
|
|
NM_004387.4(NKX2-5):c.592C>T (p.Gln198Ter)
|
rs104893903
|
|
NM_004387.4(NKX2-5):c.646C>T (p.Arg216Cys)
|
rs104893905
|
|
NM_004387.4(NKX2-5):c.768T>A (p.Tyr256Ter)
|
rs104893907
|
|
NM_004387.4(NKX2-5):c.769C>G (p.Pro257Ala)
|
rs387906776
|
|
NM_004387.4(NKX2-5):c.865AAC[2] (p.Asn291del)
|
rs756974215
|
|
NM_004387.4(NKX2-5):c.896A>G (p.Asp299Gly)
|
rs137852683
|
|
NM_005159.5(ACTC1):c.1088A>G (p.Glu363Gly)
|
rs121912674
|
|
NM_005159.5(ACTC1):c.215_231del (p.Pro72fs)
|
rs387906585
|
|
NM_005159.5(ACTC1):c.373A>G (p.Met125Val)
|
rs121912677
|
|
NM_005184.4(CALM3):c.389A>G (p.Asp130Gly)
|
rs1599759554
|
|
NM_005184.4(CALM3):c.421G>A (p.Glu141Lys)
|
rs1599759598
|
|
NM_005257.6(GATA6):c.1396A>C (p.Asn466His)
|
rs387906813
|
|
NM_005257.6(GATA6):c.1457_1458del (p.Glu486fs)
|
rs1598737972
|
|
NM_005901.6(SMAD2):c.237-12A>G
|
rs1402819968
|
|
NM_005901.6(SMAD2):c.475G>T (p.Glu159Ter)
|
rs1064793873
|
|
NM_005901.6(SMAD2):c.784+1G>A
|
rs397509416
|
|
NM_005901.6(SMAD2):c.822G>C (p.Trp274Cys)
|
rs367537998
|
|
NM_005901.6(SMAD2):c.935G>C (p.Cys312Ser)
|
rs797044882
|
|
NM_006079.5(CITED2):c.510_536del (p.163GSSTPGGSG[1])
|
rs779637348
|
|
NM_006079.5(CITED2):c.581GCGGCA[2] (p.196SG[1])
|
rs531316452
|
|
NM_006888.6(CALM1):c.268T>C (p.Phe90Leu)
|
rs730882253
|
|
NM_006888.6(CALM1):c.389A>G (p.Asp130Gly)
|
rs730882252
|
|
NM_006888.6(CALM1):c.426C>G (p.Phe142Leu)
|
rs199744595
|
|
NM_007078.3(LDB3):c.1035C>G (p.Ile345Met)
|
rs121908336
|
|
NM_012082.4(ZFPM2):c.2209A>G (p.Lys737Glu)
|
rs397514521
|
|
NM_012082.4(ZFPM2):c.681T>G (p.Ile227Met)
|
rs397514520
|
|
NM_012464.5(TLL1):c.1885A>G (p.Ile629Val)
|
rs137852953
|
|
NM_012464.5(TLL1):c.544A>C (p.Met182Leu)
|
rs137852951
|
|
NM_015103.3(PLXND1):c.2733C>G (p.Ile911Met)
|
|
|
NM_015103.3(PLXND1):c.3895C>T (p.Arg1299Cys)
|
|
|
NM_015103.3(PLXND1):c.5323A>T (p.Ile1775Phe)
|
|
|
NM_015103.3(PLXND1):c.652A>T (p.Ser218Cys)
|
|
|
NM_015103.3(PLXND1):c.880_881del (p.Gln294fs)
|
|
|
NM_021005.4(NR2F2):c.1022C>A (p.Ser341Tyr)
|
rs587777371
|
|
NM_021005.4(NR2F2):c.210GCA[6] (p.Gln75dup)
|
rs780808943
|
|
NM_021005.4(NR2F2):c.247G>T (p.Gly83Ter)
|
rs1555447012
|
|
NM_021005.4(NR2F2):c.614A>T (p.Asn205Ile)
|
rs587777372
|
|
NM_021005.4(NR2F2):c.856dup (p.Val286fs)
|
rs886041730
|
|
NM_021005.4(NR2F2):c.970+1G>A
|
rs587777374
|
|
NM_021005.4(NR2F2):c.97_103del (p.Pro33fs)
|
rs1899167019
|
|
NM_022114.4(PRDM16):c.1573dup (p.Arg525fs)
|
rs886041395
|
|
NM_022114.4(PRDM16):c.2104A>T (p.Lys702Ter)
|
rs397514742
|
|
NM_022114.4(PRDM16):c.2660T>C (p.Leu887Pro)
|
rs202115331
|
|
NM_032834.4(ALG10):c.1339G>A (p.Val447Ile)
|
rs121908850
|
|
NM_033337.3(CAV3):c.253G>A (p.Ala85Thr)
|
rs104893715
|
|
NM_033337.3(CAV3):c.40G>C (p.Val14Leu)
|
rs121909281
|
|
NM_033337.3(CAV3):c.423C>G (p.Ser141Arg)
|
rs104893713
|
|
NM_080473.5(GATA5):c.46T>G (p.Tyr16Asp)
|
rs1555897088
|
|
NM_080473.5(GATA5):c.569T>C (p.Val190Ala)
|
rs782051102
|
|
NM_080473.5(GATA5):c.595C>G (p.Leu199Val)
|
rs1555896779
|
|
NM_080473.5(GATA5):c.598T>G (p.Trp200Gly)
|
rs1555896778
|
|
NM_172201.2(KCNE2):c.178T>C (p.Phe60Leu)
|
rs16991654
|
|
NM_174934.4(SCN4B):c.485T>G (p.Val162Gly)
|
rs587777559
|
|
NM_174934.4(SCN4B):c.496A>C (p.Ile166Leu)
|
rs587777560
|
|