ClinVar Miner

List of variants studied for familial atrioventricular septal defect by Invitae

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1081
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HGVS dbSNP gnomAD frequency
NM_001308093.3(GATA4):c.1000+56C>A rs804280 0.61291
NM_001308093.3(GATA4):c.1001-269G>T rs4841587 0.36715
NM_005257.6(GATA6):c.1620+7A>G rs3764962 0.20625
NM_001308093.3(GATA4):c.1001-219G>T rs4841588 0.18594
NM_001308093.3(GATA4):c.-543C>T rs61277615 0.17297
NM_001308093.3(GATA4):c.1132A>G (p.Ser378Gly) rs3729856 0.09064
NM_001308093.3(GATA4):c.1059C>T (p.Asn353=) rs3729855 0.03634
NM_005257.6(GATA6):c.1302+20C>T rs56314574 0.02932
NM_005257.6(GATA6):c.851C>G (p.Ala284Gly) rs185325359 0.02672
NM_005257.6(GATA6):c.43G>C (p.Gly15Arg) rs116262672 0.02238
NM_001308093.3(GATA4):c.1141G>A (p.Val381Met) rs114868912 0.01121
NM_001308093.3(GATA4):c.1026T>C (p.Pro342=) rs56206007 0.01003
NM_001308093.3(GATA4):c.1116A>G (p.Ser372=) rs112435835 0.00928
NM_001308093.3(GATA4):c.1150-20G>A rs114345849 0.00483
NM_001308093.3(GATA4):c.1224A>C (p.Pro408=) rs7830178 0.00435
NM_005257.6(GATA6):c.1602A>G (p.Thr534=) rs146949786 0.00362
NM_005257.6(GATA6):c.222G>A (p.Pro74=) rs374402554 0.00327
NM_001308093.3(GATA4):c.1235C>T (p.Ala412Val) rs55633527 0.00326
NM_001308093.3(GATA4):c.825C>T (p.Cys275=) rs55980825 0.00275
NM_001308093.3(GATA4):c.462C>T (p.Phe154=) rs56348550 0.00232
NM_005257.6(GATA6):c.1374C>T (p.Asn458=) rs143026087 0.00230
NM_001308093.3(GATA4):c.99G>T (p.Ala33=) rs56166237 0.00199
NM_001308093.3(GATA4):c.1140C>T (p.Ser380=) rs34393445 0.00161
NM_001308093.3(GATA4):c.735C>T (p.Tyr245=) rs146696080 0.00148
NM_001308093.3(GATA4):c.1040C>T (p.Ala347Val) rs115372595 0.00144
NM_005257.6(GATA6):c.1350A>G (p.Thr450=) rs61731977 0.00093
NM_005257.6(GATA6):c.1375G>A (p.Ala459Thr) rs151176879 0.00091
NM_005257.6(GATA6):c.533C>T (p.Ala178Val) rs387906815 0.00087
NM_001308093.3(GATA4):c.888C>T (p.Cys296=) rs143109496 0.00083
NM_005257.6(GATA6):c.592C>G (p.Leu198Val) rs387906814 0.00068
NM_005257.6(GATA6):c.855G>T (p.Ala285=) rs1014349671 0.00060
NM_021005.4(NR2F2):c.537C>T (p.Ser179=) rs143951395 0.00055
NM_005257.6(GATA6):c.1135+9C>G rs76308670 0.00045
NM_005257.6(GATA6):c.1605A>G (p.Gln535=) rs117646477 0.00045
NM_001308093.3(GATA4):c.348C>T (p.Ser116=) rs772532276 0.00044
NM_001308093.3(GATA4):c.918C>T (p.Pro306=) rs147050993 0.00044
NM_005257.6(GATA6):c.1723G>C (p.Ala575Pro) rs149569288 0.00039
NM_001308093.3(GATA4):c.531C>A (p.Ala177=) rs573733348 0.00034
NM_005257.6(GATA6):c.352C>T (p.Leu118Phe) rs368297251 0.00032
NM_005257.6(GATA6):c.62C>G (p.Ala21Gly) rs139666654 0.00032
NM_005257.6(GATA6):c.1516+17G>A rs371870484 0.00031
NM_001308093.3(GATA4):c.786+8C>T rs371709162 0.00029
NM_001308093.3(GATA4):c.802G>A (p.Val268Met) rs116781972 0.00029
NM_021005.4(NR2F2):c.129C>G (p.Pro43=) rs551936462 0.00029
NM_001308094.2(GATA4):c.-6+2500T>C rs372004083 0.00027
NM_001308093.3(GATA4):c.616+15G>A rs767068839 0.00025
NM_005257.6(GATA6):c.849G>A (p.Ala283=) rs1000153828 0.00025
NM_001308093.3(GATA4):c.1001-4C>G rs199915980 0.00024
NM_001308093.3(GATA4):c.72C>G (p.Gly24=) rs746574040 0.00022
NM_005257.6(GATA6):c.183G>A (p.Gly61=) rs377217497 0.00022
NM_005257.6(GATA6):c.839G>C (p.Gly280Ala) rs904519303 0.00022
NM_001308093.3(GATA4):c.726C>T (p.Cys242=) rs1062215 0.00021
NM_005257.6(GATA6):c.627C>A (p.Gly209=) rs1051642564 0.00021
NM_021005.4(NR2F2):c.834G>A (p.Ser278=) rs199886454 0.00021
NM_005257.6(GATA6):c.1755A>C (p.Arg585=) rs971615402 0.00020
NM_001308093.3(GATA4):c.1126G>A (p.Gly376Arg) rs149872786 0.00019
NM_001308093.3(GATA4):c.392C>G (p.Ala131Gly) rs1013984246 0.00019
NM_001308093.3(GATA4):c.585G>C (p.Arg195=) rs1040398846 0.00019
NM_001308093.3(GATA4):c.630C>T (p.Asp210=) rs192122549 0.00019
NM_021005.4(NR2F2):c.816C>G (p.Ala272=) rs76163938 0.00019
NM_005257.6(GATA6):c.1663C>G (p.Pro555Ala) rs146243018 0.00018
NM_001308093.3(GATA4):c.1000+8A>G rs368991642 0.00017
NM_001308093.3(GATA4):c.8A>C (p.Gln3Pro) rs374132087 0.00016
NM_001308094.2(GATA4):c.-6+2577C>A rs769262495 0.00016
NM_005257.6(GATA6):c.1027G>A (p.Ala343Thr) rs142601402 0.00016
NM_005257.6(GATA6):c.271C>T (p.Pro91Ser) rs766886560 0.00016
NM_001308093.3(GATA4):c.1029C>T (p.Pro343=) rs368098911 0.00015
NM_021005.4(NR2F2):c.970+18C>A rs373488143 0.00015
NM_001308093.3(GATA4):c.90G>A (p.Ala30=) rs768982638 0.00014
NM_005257.6(GATA6):c.551G>A (p.Ser184Asn) rs387906816 0.00014
NM_001308093.3(GATA4):c.1125C>T (p.Tyr375=) rs56330552 0.00013
NM_005257.6(GATA6):c.714A>C (p.Gly238=) rs1000227951 0.00012
NM_005257.6(GATA6):c.735G>A (p.Gly245=) rs1031755167 0.00012
NM_001308093.3(GATA4):c.246C>A (p.Thr82=) rs1037655842 0.00011
NM_001308093.3(GATA4):c.1152G>A (p.Thr384=) rs147958528 0.00010
NM_001308093.3(GATA4):c.1223C>A (p.Pro408Gln) rs115099192 0.00010
NM_001308093.3(GATA4):c.15G>A (p.Leu5=) rs55635838 0.00010
NM_001308093.3(GATA4):c.280G>A (p.Ala94Thr) rs780764610 0.00010
NM_005257.6(GATA6):c.237G>C (p.Leu79=) rs772338637 0.00010
NM_005257.6(GATA6):c.259C>T (p.Pro87Ser) rs563978220 0.00010
NM_005257.6(GATA6):c.726T>C (p.Ala242=) rs1310939981 0.00010
NM_001308093.3(GATA4):c.1100C>T (p.Thr367Met) rs781198110 0.00009
NM_001308093.3(GATA4):c.1167G>A (p.Ala389=) rs55968178 0.00009
NM_001308093.3(GATA4):c.867C>T (p.Gly289=) rs781143539 0.00009
NM_001308093.3(GATA4):c.942G>T (p.Glu314Asp) rs372407808 0.00009
NM_005257.6(GATA6):c.1779C>T (p.Ala593=) rs760578963 0.00009
NM_021005.4(NR2F2):c.1242A>G (p.Gln414=) rs140022547 0.00009
NM_001308093.3(GATA4):c.106C>G (p.Pro36Ala) rs1431477414 0.00008
NM_001308093.3(GATA4):c.623T>C (p.Met208Thr) rs140892695 0.00008
NM_005257.6(GATA6):c.1136-20_1136-16del rs751625594 0.00008
NM_005257.6(GATA6):c.1620+6T>C rs200795241 0.00008
NM_001308093.3(GATA4):c.1030G>A (p.Ala344Thr) rs370588269 0.00007
NM_001308093.3(GATA4):c.13T>C (p.Leu5=) rs55670878 0.00007
NM_001308093.3(GATA4):c.678C>T (p.Thr226=) rs759042604 0.00007
NM_005257.6(GATA6):c.123C>T (p.Ser41=) rs762641247 0.00007
NM_005257.6(GATA6):c.151G>A (p.Glu51Lys) rs770662152 0.00007
NM_005257.6(GATA6):c.16G>A (p.Gly6Ser) rs139750927 0.00007
NM_005257.6(GATA6):c.372C>T (p.Ala124=) rs532888783 0.00007
NM_021005.4(NR2F2):c.357G>C (p.Arg119=) rs137861279 0.00007
NM_001308093.3(GATA4):c.127C>A (p.Arg43=) rs387906770 0.00006
NM_001308093.3(GATA4):c.1329G>A (p.Ala443=) rs745735974 0.00006
NM_001308093.3(GATA4):c.330C>T (p.Phe110=) rs779273192 0.00006
NM_001308093.3(GATA4):c.609C>T (p.Pro203=) rs1210009123 0.00006
NM_001308093.3(GATA4):c.611A>G (p.Asn204Ser) rs562967066 0.00006
NM_005257.6(GATA6):c.1672A>G (p.Ser558Gly) rs138641332 0.00006
NM_005257.6(GATA6):c.370G>A (p.Ala124Thr) rs372228686 0.00006
NM_005257.6(GATA6):c.408G>T (p.Leu136=) rs546073071 0.00006
NM_005257.6(GATA6):c.660C>T (p.Gly220=) rs1385756157 0.00006
NM_005257.6(GATA6):c.768G>A (p.Ala256=) rs919012580 0.00006
NM_001308093.3(GATA4):c.786+16G>A rs200555437 0.00005
NM_005257.6(GATA6):c.543G>C (p.Ala181=) rs1462466315 0.00005
NM_005257.6(GATA6):c.775G>A (p.Val259Ile) rs911752926 0.00005
NM_001308093.3(GATA4):c.1106C>G (p.Pro369Arg) rs775379687 0.00004
NM_001308093.3(GATA4):c.1236G>A (p.Ala412=) rs771755685 0.00004
NM_001308093.3(GATA4):c.1243G>A (p.Val415Ile) rs900347264 0.00004
NM_001308093.3(GATA4):c.1311C>T (p.His437=) rs779684582 0.00004
NM_001308093.3(GATA4):c.244A>G (p.Thr82Ala) rs961114777 0.00004
NM_001308093.3(GATA4):c.283G>A (p.Asp95Asn) rs745305589 0.00004
NM_001308093.3(GATA4):c.30C>A (p.Asn10Lys) rs1274085631 0.00004
NM_001308093.3(GATA4):c.487C>T (p.Pro163Ser) rs387906769 0.00004
NM_001308093.3(GATA4):c.720C>T (p.Asn240=) rs747431380 0.00004
NM_001308093.3(GATA4):c.747C>T (p.Asn249=) rs140212153 0.00004
NM_001308093.3(GATA4):c.772C>T (p.Pro258Ser) rs368091578 0.00004
NM_001308093.3(GATA4):c.789C>T (p.Ser263=) rs777744927 0.00004
NM_001308093.3(GATA4):c.860C>T (p.Ala287Val) rs116430078 0.00004
NM_001308093.3(GATA4):c.957A>G (p.Arg319=) rs746390280 0.00004
NM_001308093.3(GATA4):c.994C>T (p.Pro332Ser) rs768967856 0.00004
NM_005257.6(GATA6):c.1302+3G>A rs896413516 0.00004
NM_005257.6(GATA6):c.1516+19C>T rs199658633 0.00004
NM_005257.6(GATA6):c.1628C>G (p.Ala543Gly) rs761668180 0.00004
NM_005257.6(GATA6):c.1734C>T (p.Ala578=) rs747397185 0.00004
NM_005257.6(GATA6):c.1754G>T (p.Arg585Leu) rs201707559 0.00004
NM_005257.6(GATA6):c.282T>A (p.Pro94=) rs374591296 0.00004
NM_005257.6(GATA6):c.477G>C (p.Pro159=) rs771297576 0.00004
NM_005257.6(GATA6):c.762A>G (p.Ser254=) rs1275066172 0.00004
NM_005257.6(GATA6):c.89G>A (p.Arg30Gln) rs756406083 0.00004
NM_005257.6(GATA6):c.999T>C (p.His333=) rs1317202692 0.00004
NM_021005.4(NR2F2):c.19A>G (p.Thr7Ala) rs901462929 0.00004
NM_021005.4(NR2F2):c.264C>G (p.Gly88=) rs757445345 0.00004
NM_001308093.3(GATA4):c.1067C>G (p.Thr356Ser) rs200167770 0.00003
NM_001308093.3(GATA4):c.1087C>T (p.Arg363Cys) rs145999237 0.00003
NM_001308093.3(GATA4):c.1149+6C>T rs572050627 0.00003
NM_001308093.3(GATA4):c.1183C>A (p.Pro395Thr) rs200319078 0.00003
NM_001308093.3(GATA4):c.1205C>T (p.Ser402Leu) rs748130910 0.00003
NM_001308093.3(GATA4):c.1206G>A (p.Ser402=) rs141909277 0.00003
NM_001308093.3(GATA4):c.1231T>C (p.Tyr411His) rs372808540 0.00003
NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn) rs56208331 0.00003
NM_001308093.3(GATA4):c.260C>A (p.Pro87Gln) rs1050251819 0.00003
NM_001308093.3(GATA4):c.34G>C (p.Gly12Arg) rs750597721 0.00003
NM_001308093.3(GATA4):c.599C>T (p.Ala200Val) rs1313649801 0.00003
NM_001308093.3(GATA4):c.762G>A (p.Pro254=) rs143454176 0.00003
NM_001308093.3(GATA4):c.787-16G>A rs201533584 0.00003
NM_001308093.3(GATA4):c.930A>G (p.Ala310=) rs779911000 0.00003
NM_001308093.3(GATA4):c.94G>C (p.Ala32Pro) rs773545065 0.00003
NM_005257.6(GATA6):c.1123G>A (p.Gly375Ser) rs954640705 0.00003
NM_005257.6(GATA6):c.1572T>C (p.Asp524=) rs199684979 0.00003
NM_005257.6(GATA6):c.1696G>A (p.Asp566Asn) rs947813106 0.00003
NM_005257.6(GATA6):c.786C>A (p.Arg262=) rs1437667524 0.00003
NM_005257.6(GATA6):c.949C>A (p.Arg317=) rs1249153916 0.00003
NM_021005.4(NR2F2):c.843C>T (p.Ser281=) rs1006491294 0.00003
NM_001308093.3(GATA4):c.1070G>T (p.Ser357Ile) rs1014543362 0.00002
NM_001308093.3(GATA4):c.1078G>A (p.Glu360Lys) rs368489876 0.00002
NM_001308093.3(GATA4):c.1099A>T (p.Thr367Ser) rs771120775 0.00002
NM_001308093.3(GATA4):c.1136G>T (p.Ser379Ile) rs878854481 0.00002
NM_001308093.3(GATA4):c.1181G>A (p.Gly394Glu) rs1000341752 0.00002
NM_001308093.3(GATA4):c.124C>A (p.Pro42Thr) rs980252090 0.00002
NM_001308093.3(GATA4):c.1262C>A (p.Thr421Asn) rs114839964 0.00002
NM_001308093.3(GATA4):c.1295T>G (p.Val432Gly) rs114944893 0.00002
NM_001308093.3(GATA4):c.179G>A (p.Gly60Asp) rs1451316561 0.00002
NM_001308093.3(GATA4):c.195C>T (p.Gly65=) rs752600136 0.00002
NM_001308093.3(GATA4):c.298A>G (p.Thr100Ala) rs891667879 0.00002
NM_001308093.3(GATA4):c.425G>T (p.Gly142Val) rs1188215516 0.00002
NM_001308093.3(GATA4):c.459C>T (p.Gly153=) rs1178980770 0.00002
NM_001308093.3(GATA4):c.486C>T (p.Tyr162=) rs1253695712 0.00002
NM_001308093.3(GATA4):c.488C>G (p.Pro163Arg) rs540578824 0.00002
NM_001308093.3(GATA4):c.557G>C (p.Ser186Thr) rs763895652 0.00002
NM_001308093.3(GATA4):c.786+15C>T rs374933423 0.00002
NM_001308093.3(GATA4):c.861G>A (p.Ala287=) rs757208344 0.00002
NM_001308093.3(GATA4):c.909C>T (p.His303=) rs201516339 0.00002
NM_001308093.3(GATA4):c.912+15C>T rs375658877 0.00002
NM_001308093.3(GATA4):c.912+5G>A rs371005520 0.00002
NM_001308093.3(GATA4):c.943G>A (p.Gly315Arg) rs377222076 0.00002
NM_005257.6(GATA6):c.1125T>A (p.Gly375=) rs1203711555 0.00002
NM_005257.6(GATA6):c.1173G>A (p.Val391=) rs1399740472 0.00002
NM_005257.6(GATA6):c.1223A>G (p.His408Arg) rs1205923643 0.00002
NM_005257.6(GATA6):c.1377C>T (p.Ala459=) rs765639422 0.00002
NM_005257.6(GATA6):c.277G>C (p.Gly93Arg) rs529881815 0.00002
NM_005257.6(GATA6):c.314A>G (p.Asn105Ser) rs1185679421 0.00002
NM_005257.6(GATA6):c.367A>G (p.Thr123Ala) rs1194141406 0.00002
NM_005257.6(GATA6):c.502G>A (p.Gly168Ser) rs774639835 0.00002
NM_005257.6(GATA6):c.534A>G (p.Ala178=) rs1166249324 0.00002
NM_005257.6(GATA6):c.555C>T (p.Ser185=) rs1337642807 0.00002
NM_005257.6(GATA6):c.589A>C (p.Met197Leu) rs1245355073 0.00002
NM_005257.6(GATA6):c.857G>A (p.Gly286Asp) rs1024878588 0.00002
NM_005257.6(GATA6):c.94C>A (p.Pro32Thr) rs1166309522 0.00002
NM_021005.4(NR2F2):c.443-5C>T rs374487006 0.00002
NM_021005.4(NR2F2):c.4G>T (p.Ala2Ser) rs1236325542 0.00002
NC_000018.10:g.22169190A>T rs916466917 0.00001
NM_001308093.3(GATA4):c.1001-13T>C rs913114491 0.00001
NM_001308093.3(GATA4):c.1008A>G (p.Ser336=) rs752425131 0.00001
NM_001308093.3(GATA4):c.1031C>T (p.Ala344Val) rs1199535707 0.00001
NM_001308093.3(GATA4):c.1036G>A (p.Gly346Ser) rs779421943 0.00001
NM_001308093.3(GATA4):c.1060G>A (p.Ala354Thr) rs770938655 0.00001
NM_001308093.3(GATA4):c.1077C>T (p.Ser359=) rs375407669 0.00001
NM_001308093.3(GATA4):c.1088G>A (p.Arg363His) rs139893755 0.00001
NM_001308093.3(GATA4):c.1095C>A (p.Ile365=) rs1554498776 0.00001
NM_001308093.3(GATA4):c.1104G>A (p.Glu368=) rs769775284 0.00001
NM_001308093.3(GATA4):c.1149+8C>T rs1490422997 0.00001
NM_001308093.3(GATA4):c.1149G>A (p.Gln383=) rs751950851 0.00001
NM_001308093.3(GATA4):c.1150-7T>C rs776340600 0.00001
NM_001308093.3(GATA4):c.1151C>T (p.Thr384Met) rs759067821 0.00001
NM_001308093.3(GATA4):c.1160T>C (p.Val387Ala) rs368991748 0.00001
NM_001308093.3(GATA4):c.1161C>T (p.Val387=) rs372993566 0.00001
NM_001308093.3(GATA4):c.1166C>A (p.Ala389Glu) rs376885265 0.00001
NM_001308093.3(GATA4):c.1200C>A (p.Val400=) rs778818575 0.00001
NM_001308093.3(GATA4):c.1240C>G (p.Pro414Ala) rs1217555878 0.00001
NM_001308093.3(GATA4):c.1241C>T (p.Pro414Leu) rs773626580 0.00001
NM_001308093.3(GATA4):c.1242C>T (p.Pro414=) rs761007335 0.00001
NM_001308093.3(GATA4):c.125C>A (p.Pro42Gln) rs766590532 0.00001
NM_001308093.3(GATA4):c.1262C>G (p.Thr421Ser) rs114839964 0.00001
NM_001308093.3(GATA4):c.1303G>A (p.Asp435Asn) rs745543448 0.00001
NM_001308093.3(GATA4):c.1318A>G (p.Ile440Val) rs772619099 0.00001
NM_001308093.3(GATA4):c.143T>G (p.Val48Gly) rs1272999942 0.00001
NM_001308093.3(GATA4):c.159C>T (p.Tyr53=) rs1258554563 0.00001
NM_001308093.3(GATA4):c.193G>A (p.Gly65Ser) rs1399618529 0.00001
NM_001308093.3(GATA4):c.19A>G (p.Met7Val) rs899023750 0.00001
NM_001308093.3(GATA4):c.206G>T (p.Gly69Val) rs938776629 0.00001
NM_001308093.3(GATA4):c.214G>T (p.Gly72Cys) rs1310454033 0.00001
NM_001308093.3(GATA4):c.223G>T (p.Ala75Ser) rs556967140 0.00001
NM_001308093.3(GATA4):c.234G>A (p.Ala78=) rs756850527 0.00001
NM_001308093.3(GATA4):c.241G>A (p.Gly81Arg) rs1466334264 0.00001
NM_001308093.3(GATA4):c.263G>T (p.Gly88Val) rs980402710 0.00001
NM_001308093.3(GATA4):c.269G>C (p.Ser90Thr) rs925893907 0.00001
NM_001308093.3(GATA4):c.278G>C (p.Gly93Ala) rs56191129 0.00001
NM_001308093.3(GATA4):c.336G>A (p.Gly112=) rs748572046 0.00001
NM_001308093.3(GATA4):c.349C>G (p.Leu117Val) rs1265057798 0.00001
NM_001308093.3(GATA4):c.375G>A (p.Ala125=) rs1368525776 0.00001
NM_001308093.3(GATA4):c.404G>A (p.Gly135Asp) rs1386927055 0.00001
NM_001308093.3(GATA4):c.418G>A (p.Gly140Ser) rs1185285048 0.00001
NM_001308093.3(GATA4):c.41C>G (p.Pro14Arg) rs996317979 0.00001
NM_001308093.3(GATA4):c.457G>A (p.Gly153Ser) rs1554488611 0.00001
NM_001308093.3(GATA4):c.464C>T (p.Ala155Val) rs1800021074 0.00001
NM_001308093.3(GATA4):c.467G>T (p.Gly156Val) rs1168049106 0.00001
NM_001308093.3(GATA4):c.491C>T (p.Ala164Val) rs1425061772 0.00001
NM_001308093.3(GATA4):c.510C>A (p.Gly170=) rs1272768214 0.00001
NM_001308093.3(GATA4):c.55G>A (p.Glu19Lys) rs1139240 0.00001
NM_001308093.3(GATA4):c.576G>T (p.Leu192=) rs1189744811 0.00001
NM_001308093.3(GATA4):c.582C>T (p.Gly194=) rs1467767687 0.00001
NM_001308093.3(GATA4):c.588C>T (p.Ala196=) rs1060503829 0.00001
NM_001308093.3(GATA4):c.592C>T (p.Pro198Ser) rs1359707472 0.00001
NM_001308093.3(GATA4):c.594G>A (p.Pro198=) rs1213779475 0.00001
NM_001308093.3(GATA4):c.608C>G (p.Pro203Arg) rs1049056938 0.00001
NM_001308093.3(GATA4):c.616+18G>T rs1174507680 0.00001
NM_001308093.3(GATA4):c.618A>G (p.Val206=) rs1405855570 0.00001
NM_001308093.3(GATA4):c.626T>C (p.Phe209Ser) rs1255379844 0.00001
NM_001308093.3(GATA4):c.631G>A (p.Asp211Asn) rs377673676 0.00001
NM_001308093.3(GATA4):c.640G>C (p.Glu214Gln) rs370946998 0.00001
NM_001308093.3(GATA4):c.645C>T (p.Gly215=) rs1411266373 0.00001
NM_001308093.3(GATA4):c.69C>T (p.Pro23=) rs1411452741 0.00001
NM_001308093.3(GATA4):c.727G>A (p.Gly243Ser) rs1060500082 0.00001
NM_001308093.3(GATA4):c.732C>G (p.Leu244=) rs200443296 0.00001
NM_001308093.3(GATA4):c.748G>A (p.Gly250Ser) rs1431297203 0.00001
NM_001308093.3(GATA4):c.768C>A (p.Ile256=) rs760250504 0.00001
NM_001308093.3(GATA4):c.773C>T (p.Pro258Leu) rs753457161 0.00001
NM_001308093.3(GATA4):c.782G>A (p.Arg261Gln) rs1245034279 0.00001
NM_001308093.3(GATA4):c.784C>G (p.Leu262Val) rs759095800 0.00001
NM_001308093.3(GATA4):c.786+11G>A rs1165880305 0.00001
NM_001308093.3(GATA4):c.787-3C>T rs758327243 0.00001
NM_001308093.3(GATA4):c.800G>A (p.Arg267Gln) rs1305097777 0.00001
NM_001308093.3(GATA4):c.83A>G (p.His28Arg) rs534250566 0.00001
NM_001308093.3(GATA4):c.855C>T (p.Arg285=) rs758475308 0.00001
NM_001308093.3(GATA4):c.906C>T (p.Leu302=) rs1289378857 0.00001
NM_001308093.3(GATA4):c.912+7G>T rs759872773 0.00001
NM_001308093.3(GATA4):c.912G>A (p.Gly304=) rs773684507 0.00001
NM_001308093.3(GATA4):c.913-5T>G rs935306106 0.00001
NM_001308093.3(GATA4):c.931A>T (p.Met311Leu) rs387906772 0.00001
NM_001308093.3(GATA4):c.94G>A (p.Ala32Thr) rs773545065 0.00001
NM_001308093.3(GATA4):c.969C>G (p.Pro323=) rs1802489642 0.00001
NM_001308093.3(GATA4):c.976C>G (p.Leu326Val) rs775993607 0.00001
NM_001308093.3(GATA4):c.98C>T (p.Ala33Val) rs989115054 0.00001
NM_005257.6(GATA6):c.1021G>A (p.Val341Met) rs1270889195 0.00001
NM_005257.6(GATA6):c.1030C>T (p.Pro344Ser) rs1408429022 0.00001
NM_005257.6(GATA6):c.1048C>G (p.Pro350Ala) rs964471147 0.00001
NM_005257.6(GATA6):c.1100G>C (p.Gly367Ala) rs1293318805 0.00001
NM_005257.6(GATA6):c.1103C>T (p.Ala368Val) rs1457725461 0.00001
NM_005257.6(GATA6):c.110C>T (p.Ser37Phe) rs776255080 0.00001
NM_005257.6(GATA6):c.1114G>A (p.Val372Met) rs1243661585 0.00001
NM_005257.6(GATA6):c.112C>A (p.Pro38Thr) rs769310811 0.00001
NM_005257.6(GATA6):c.1139T>C (p.Leu380Pro) rs1446505680 0.00001
NM_005257.6(GATA6):c.1212C>T (p.Asp404=) rs749866394 0.00001
NM_005257.6(GATA6):c.1263C>A (p.Asn421Lys) rs375015752 0.00001
NM_005257.6(GATA6):c.1290G>T (p.Pro430=) rs1030890046 0.00001
NM_005257.6(GATA6):c.1303C>A (p.Pro435Thr) rs1182565719 0.00001
NM_005257.6(GATA6):c.1332T>C (p.Cys444=) rs2033195222 0.00001
NM_005257.6(GATA6):c.141C>T (p.Ser47=) rs754073585 0.00001
NM_005257.6(GATA6):c.1513T>C (p.Ser505Pro) rs746906542 0.00001
NM_005257.6(GATA6):c.1516+10C>T rs201544789 0.00001
NM_005257.6(GATA6):c.155G>T (p.Arg52Leu) rs541150137 0.00001
NM_005257.6(GATA6):c.156G>A (p.Arg52=) rs1228736787 0.00001
NM_005257.6(GATA6):c.1624G>A (p.Gly542Ser) rs1568011554 0.00001
NM_005257.6(GATA6):c.1631C>T (p.Pro544Leu) rs767156756 0.00001
NM_005257.6(GATA6):c.1725C>T (p.Ala575=) rs200788504 0.00001
NM_005257.6(GATA6):c.1743G>A (p.Thr581=) rs1027770450 0.00001
NM_005257.6(GATA6):c.1757C>T (p.Pro586Leu) rs749567667 0.00001
NM_005257.6(GATA6):c.187C>T (p.Pro63Ser) rs559705145 0.00001
NM_005257.6(GATA6):c.199A>T (p.Thr67Ser) rs923229630 0.00001
NM_005257.6(GATA6):c.200C>G (p.Thr67Arg) rs933199729 0.00001
NM_005257.6(GATA6):c.203A>T (p.Glu68Val) rs200483324 0.00001
NM_005257.6(GATA6):c.208G>A (p.Ala70Thr) rs779755261 0.00001
NM_005257.6(GATA6):c.261C>T (p.Pro87=) rs1293405632 0.00001
NM_005257.6(GATA6):c.269C>T (p.Ala90Val) rs1341980994 0.00001
NM_005257.6(GATA6):c.307G>C (p.Gly103Arg) rs749200220 0.00001
NM_005257.6(GATA6):c.337C>T (p.Leu113=) rs771752366 0.00001
NM_005257.6(GATA6):c.33G>A (p.Pro11=) rs773163815 0.00001
NM_005257.6(GATA6):c.364G>T (p.Ala122Ser) rs1245960637 0.00001
NM_005257.6(GATA6):c.383T>C (p.Leu128Pro) rs1381339538 0.00001
NM_005257.6(GATA6):c.459T>C (p.Ala153=) rs752220329 0.00001
NM_005257.6(GATA6):c.472G>A (p.Gly158Ser) rs2033048695 0.00001
NM_005257.6(GATA6):c.48C>A (p.Ala16=) rs764776127 0.00001
NM_005257.6(GATA6):c.507C>A (p.Phe169Leu) rs980861173 0.00001
NM_005257.6(GATA6):c.508G>A (p.Val170Met) rs1343278963 0.00001
NM_005257.6(GATA6):c.50C>G (p.Ala17Gly) rs1030316600 0.00001
NM_005257.6(GATA6):c.525G>A (p.Ala175=) rs759587190 0.00001
NM_005257.6(GATA6):c.538G>A (p.Ala180Thr) rs897655941 0.00001
NM_005257.6(GATA6):c.595C>T (p.Pro199Ser) rs1428539753 0.00001
NM_005257.6(GATA6):c.597C>T (p.Pro199=) rs1172457864 0.00001
NM_005257.6(GATA6):c.605C>A (p.Pro202Gln) rs1176964829 0.00001
NM_005257.6(GATA6):c.606G>A (p.Pro202=) rs1407999679 0.00001
NM_005257.6(GATA6):c.61G>T (p.Ala21Ser) rs752129361 0.00001
NM_005257.6(GATA6):c.621G>C (p.Gly207=) rs1288470498 0.00001
NM_005257.6(GATA6):c.631G>A (p.Gly211Arg) rs1375177355 0.00001
NM_005257.6(GATA6):c.709A>G (p.Ser237Gly) rs1323110205 0.00001
NM_005257.6(GATA6):c.729C>T (p.Gly243=) rs1323741166 0.00001
NM_005257.6(GATA6):c.777C>T (p.Val259=) rs1402116310 0.00001
NM_005257.6(GATA6):c.784C>T (p.Arg262Cys) rs1409189846 0.00001
NM_005257.6(GATA6):c.789C>T (p.Phe263=) rs1254802999 0.00001
NM_005257.6(GATA6):c.807G>T (p.Pro269=) rs1301479852 0.00001
NM_005257.6(GATA6):c.809C>T (p.Pro270Leu) rs1488181197 0.00001
NM_005257.6(GATA6):c.87G>A (p.Ala29=) rs1254633924 0.00001
NM_005257.6(GATA6):c.924C>T (p.Pro308=) rs1431203656 0.00001
NM_005257.6(GATA6):c.954G>C (p.Pro318=) rs1313279921 0.00001
NM_005257.6(GATA6):c.961G>C (p.Gly321Arg) rs1291923956 0.00001
NM_005257.6(GATA6):c.966G>A (p.Thr322=) rs2033060375 0.00001
NM_005257.6(GATA6):c.995A>G (p.His332Arg) rs1223505085 0.00001
NM_021005.4(NR2F2):c.1206C>T (p.Ser402=) rs757077299 0.00001
NM_021005.4(NR2F2):c.789C>T (p.Pro263=) rs1174849712 0.00001
NM_021005.4(NR2F2):c.882C>T (p.Ile294=) rs1163679972 0.00001
NM_021005.4(NR2F2):c.918C>T (p.His306=) rs751816358 0.00001
NM_021005.4(NR2F2):c.971-11C>T rs1208596248 0.00001
NC_000008.10:g.(?_11560787)_(11616004_?)dup
NC_000008.10:g.(?_11565822)_(11566457_?)del
NC_000008.10:g.(?_11565822)_(11566457_?)dup
NC_000008.10:g.(?_11606408)_(11615984_?)del
NC_000008.11:g.(?_11703278)_(11758495_?)del
NC_000008.11:g.(?_11703278)_(11759996_?)del
NC_000008.11:g.(?_11703278)_(11759996_?)dup
NC_000008.11:g.(?_11708303)_(11758594_?)dup
NC_000015.9:g.(?_96875335)_(96880851_?)dup
NC_000018.10:g.(?_22168362)_(22172289_?)del
NC_000018.9:g.(?_19383858)_(19780786_?)dup
NC_000018.9:g.(?_19780599)_(19780786_?)dup
NM_001308093.3(GATA4):c.*1521C>G rs3203358
NM_001308093.3(GATA4):c.-2_5del (p.Met1fs)
NM_001308093.3(GATA4):c.1000+12A>G
NM_001308093.3(GATA4):c.1000+17_1000+18del
NM_001308093.3(GATA4):c.1000+19A>G rs2130338672
NM_001308093.3(GATA4):c.1000+5G>A
NM_001308093.3(GATA4):c.1001-20C>G
NM_001308093.3(GATA4):c.1001-3C>T
NM_001308093.3(GATA4):c.1003C>T (p.Pro335Ser) rs1188397343
NM_001308093.3(GATA4):c.1014del (p.Ser338fs) rs2130347583
NM_001308093.3(GATA4):c.1017G>A (p.Glu339=)
NM_001308093.3(GATA4):c.1027C>T (p.Pro343Ser)
NM_001308093.3(GATA4):c.1035C>T (p.Ser345=) rs755482369
NM_001308093.3(GATA4):c.1042TCCAGCAAC[1] (p.348SSN[1])
NM_001308093.3(GATA4):c.1053C>T (p.Ser351=)
NM_001308093.3(GATA4):c.1065C>T (p.Thr355=)
NM_001308093.3(GATA4):c.1068C>A (p.Thr356=) rs775324602
NM_001308093.3(GATA4):c.1069A>G (p.Ser357Gly) rs1165825689
NM_001308093.3(GATA4):c.1069A>T (p.Ser357Cys) rs1165825689
NM_001308093.3(GATA4):c.106C>T (p.Pro36Ser)
NM_001308093.3(GATA4):c.1076G>C (p.Ser359Thr) rs536598649
NM_001308093.3(GATA4):c.1077C>G (p.Ser359Arg)
NM_001308093.3(GATA4):c.1078G>T (p.Glu360Ter) rs368489876
NM_001308093.3(GATA4):c.1081G>C (p.Glu361Gln) rs141808522
NM_001308093.3(GATA4):c.1089T>A (p.Arg363=) rs143385784
NM_001308093.3(GATA4):c.1089T>C (p.Arg363=) rs143385784
NM_001308093.3(GATA4):c.1100C>G (p.Thr367Arg)
NM_001308093.3(GATA4):c.1101G>A (p.Thr367=) rs771381966
NM_001308093.3(GATA4):c.1101G>C (p.Thr367=) rs771381966
NM_001308093.3(GATA4):c.1109G>T (p.Gly370Val) rs146685461
NM_001308093.3(GATA4):c.1112T>G (p.Leu371Arg)
NM_001308093.3(GATA4):c.1116A>T (p.Ser372=) rs112435835
NM_001308093.3(GATA4):c.111C>A (p.Val37=) rs1585595173
NM_001308093.3(GATA4):c.1120C>T (p.His374Tyr)
NM_001308093.3(GATA4):c.1123_1125del (p.Tyr375del) rs1585703515
NM_001308093.3(GATA4):c.1126G>T (p.Gly376Trp) rs149872786
NM_001308093.3(GATA4):c.1128G>A (p.Gly376=) rs781488882
NM_001308093.3(GATA4):c.1131C>G (p.His377Gln) rs116414842
NM_001308093.3(GATA4):c.1136G>A (p.Ser379Asn)
NM_001308093.3(GATA4):c.1147C>G (p.Gln383Glu)
NM_001308093.3(GATA4):c.1149+15T>G
NM_001308093.3(GATA4):c.1149+20C>T
NM_001308093.3(GATA4):c.1149+7G>A rs781457045
NM_001308093.3(GATA4):c.1149+7G>T rs781457045
NM_001308093.3(GATA4):c.1149G>C (p.Gln383His)
NM_001308093.3(GATA4):c.1150-14T>C
NM_001308093.3(GATA4):c.1150-18G>A
NM_001308093.3(GATA4):c.1150-18G>C rs751207561
NM_001308093.3(GATA4):c.1150-20del
NM_001308093.3(GATA4):c.1150-3C>G
NM_001308093.3(GATA4):c.1150-8C>T
NM_001308093.3(GATA4):c.1155C>G (p.Phe385Leu) rs957671450
NM_001308093.3(GATA4):c.1166C>T (p.Ala389Val)
NM_001308093.3(GATA4):c.1175G>C (p.Gly392Ala)
NM_001308093.3(GATA4):c.1175G>T (p.Gly392Val) rs147093296
NM_001308093.3(GATA4):c.1178A>C (p.His393Pro)
NM_001308093.3(GATA4):c.1178A>G (p.His393Arg) rs766572598
NM_001308093.3(GATA4):c.1178A>T (p.His393Leu)
NM_001308093.3(GATA4):c.1188C>A (p.Ser396=)
NM_001308093.3(GATA4):c.1188C>T (p.Ser396=)
NM_001308093.3(GATA4):c.1198G>C (p.Val400Leu)
NM_001308093.3(GATA4):c.1198G>T (p.Val400Phe)
NM_001308093.3(GATA4):c.1199T>C (p.Val400Ala) rs2130355308
NM_001308093.3(GATA4):c.11G>A (p.Ser4Asn)
NM_001308093.3(GATA4):c.1201C>G (p.Leu401Val)
NM_001308093.3(GATA4):c.1208C>A (p.Ala403Asp) rs1563234610
NM_001308093.3(GATA4):c.1209C>T (p.Ala403=) rs2130355423
NM_001308093.3(GATA4):c.1210C>A (p.Leu404Met)
NM_001308093.3(GATA4):c.1218C>T (p.Leu406=)
NM_001308093.3(GATA4):c.1221C>G (p.Ser407=) rs2130355480
NM_001308093.3(GATA4):c.1222C>G (p.Pro408Ala) rs1585706968
NM_001308093.3(GATA4):c.1223C>G (p.Pro408Arg) rs115099192
NM_001308093.3(GATA4):c.1224A>G (p.Pro408=)
NM_001308093.3(GATA4):c.1225C>T (p.Gln409Ter) rs1802712072
NM_001308093.3(GATA4):c.1232A>G (p.Tyr411Cys)
NM_001308093.3(GATA4):c.1232A>T (p.Tyr411Phe) rs909187176
NM_001308093.3(GATA4):c.1241C>G (p.Pro414Arg)
NM_001308093.3(GATA4):c.1243G>C (p.Val415Leu)
NM_001308093.3(GATA4):c.1254T>C (p.Ser418=) rs1060503828
NM_001308093.3(GATA4):c.125C>G (p.Pro42Arg) rs766590532
NM_001308093.3(GATA4):c.125C>T (p.Pro42Leu)
NM_001308093.3(GATA4):c.1268C>G (p.Ser423Cys) rs1343825404
NM_001308093.3(GATA4):c.1285A>C (p.Asn429His) rs1286668690
NM_001308093.3(GATA4):c.1286A>G (p.Asn429Ser) rs76332456
NM_001308093.3(GATA4):c.1289G>A (p.Ser430Asn)
NM_001308093.3(GATA4):c.1296C>G (p.Val432=)
NM_001308093.3(GATA4):c.129G>A (p.Arg43=) rs1563199849
NM_001308093.3(GATA4):c.129G>T (p.Arg43=) rs1563199849
NM_001308093.3(GATA4):c.12C>A (p.Ser4Arg)
NM_001308093.3(GATA4):c.12C>T (p.Ser4=)
NM_001308093.3(GATA4):c.1302C>T (p.Ala434=)
NM_001308093.3(GATA4):c.1308T>A (p.Ser436Arg)
NM_001308093.3(GATA4):c.1311C>G (p.His437Gln) rs779684582
NM_001308093.3(GATA4):c.1312G>A (p.Gly438Arg) rs748737164
NM_001308093.3(GATA4):c.1314G>A (p.Gly438=)
NM_001308093.3(GATA4):c.1315G>C (p.Asp439His) rs149351193
NM_001308093.3(GATA4):c.1318A>T (p.Ile440Leu) rs772619099
NM_001308093.3(GATA4):c.1321A>G (p.Ile441Val) rs2130356211
NM_001308093.3(GATA4):c.1328C>G (p.Ala443Gly) rs146017816
NM_001308093.3(GATA4):c.1328C>T (p.Ala443Val) rs146017816
NM_001308093.3(GATA4):c.135C>G (p.Pro45=) rs1297614525
NM_001308093.3(GATA4):c.143T>C (p.Val48Ala) rs1272999942
NM_001308093.3(GATA4):c.148G>C (p.Gly50Arg)
NM_001308093.3(GATA4):c.149G>C (p.Gly50Ala) rs570058215
NM_001308093.3(GATA4):c.151C>T (p.Leu51=)
NM_001308093.3(GATA4):c.174C>A (p.Gly58=)
NM_001308093.3(GATA4):c.174C>T (p.Gly58=)
NM_001308093.3(GATA4):c.175G>A (p.Ala59Thr)
NM_001308093.3(GATA4):c.177G>A (p.Ala59=)
NM_001308093.3(GATA4):c.179G>C (p.Gly60Ala)
NM_001308093.3(GATA4):c.182C>T (p.Ser61Phe)
NM_001308093.3(GATA4):c.183T>C (p.Ser61=)
NM_001308093.3(GATA4):c.186G>A (p.Ala62=) rs1466381420
NM_001308093.3(GATA4):c.191G>A (p.Gly64Glu)
NM_001308093.3(GATA4):c.191G>T (p.Gly64Val)
NM_001308093.3(GATA4):c.195C>A (p.Gly65=)
NM_001308093.3(GATA4):c.200C>T (p.Ser67Leu)
NM_001308093.3(GATA4):c.204C>A (p.Gly68=) rs1800003368
NM_001308093.3(GATA4):c.205G>A (p.Gly69Ser)
NM_001308093.3(GATA4):c.205G>T (p.Gly69Cys)
NM_001308093.3(GATA4):c.218G>T (p.Gly73Val)
NM_001308093.3(GATA4):c.219G>C (p.Gly73=) rs1057052962
NM_001308093.3(GATA4):c.219G>T (p.Gly73=)
NM_001308093.3(GATA4):c.221C>A (p.Ala74Asp)
NM_001308093.3(GATA4):c.222C>A (p.Ala74=)
NM_001308093.3(GATA4):c.222C>G (p.Ala74=)
NM_001308093.3(GATA4):c.22G>T (p.Ala8Ser) rs1386678141
NM_001308093.3(GATA4):c.230G>T (p.Gly77Val)
NM_001308093.3(GATA4):c.232G>T (p.Ala78Ser)
NM_001308093.3(GATA4):c.236G>C (p.Gly79Ala)
NM_001308093.3(GATA4):c.236G>T (p.Gly79Val)
NM_001308093.3(GATA4):c.243G>C (p.Gly81=)
NM_001308093.3(GATA4):c.246C>G (p.Thr82=) rs1037655842
NM_001308093.3(GATA4):c.248A>C (p.Gln83Pro)
NM_001308093.3(GATA4):c.24C>G (p.Ala8=)
NM_001308093.3(GATA4):c.24C>T (p.Ala8=)
NM_001308093.3(GATA4):c.251A>G (p.Gln84Arg) rs899093640
NM_001308093.3(GATA4):c.253G>T (p.Gly85Cys)
NM_001308093.3(GATA4):c.259C>G (p.Pro87Ala)
NM_001308093.3(GATA4):c.266G>A (p.Trp89Ter) rs2130068999
NM_001308093.3(GATA4):c.270C>T (p.Ser90=)
NM_001308093.3(GATA4):c.270_271delinsTA (p.Gln91Lys) rs2130069025
NM_001308093.3(GATA4):c.273G>A (p.Gln91=) rs1585595804
NM_001308093.3(GATA4):c.274G>A (p.Ala92Thr)
NM_001308093.3(GATA4):c.275C>A (p.Ala92Glu)
NM_001308093.3(GATA4):c.276G>A (p.Ala92=)
NM_001308093.3(GATA4):c.286G>A (p.Gly96Arg) rs2130069132
NM_001308093.3(GATA4):c.290C>T (p.Ala97Val)
NM_001308093.3(GATA4):c.292G>A (p.Ala98Thr)
NM_001308093.3(GATA4):c.300C>A (p.Thr100=) rs1585595889
NM_001308093.3(GATA4):c.302C>T (p.Pro101Leu) rs1800009411
NM_001308093.3(GATA4):c.303G>A (p.Pro101=) rs1585595911
NM_001308093.3(GATA4):c.306G>T (p.Pro102=) rs1336667597
NM_001308093.3(GATA4):c.307C>G (p.Pro103Ala)
NM_001308093.3(GATA4):c.308C>G (p.Pro103Arg) rs2130069373
NM_001308093.3(GATA4):c.309G>T (p.Pro103=)
NM_001308093.3(GATA4):c.310G>C (p.Val104Leu)
NM_001308093.3(GATA4):c.315G>A (p.Ser105=) rs1329688744
NM_001308093.3(GATA4):c.316C>G (p.Pro106Ala) rs2130069427
NM_001308093.3(GATA4):c.317C>A (p.Pro106Gln)
NM_001308093.3(GATA4):c.317C>G (p.Pro106Arg)
NM_001308093.3(GATA4):c.31C>A (p.His11Asn) rs1350855665
NM_001308093.3(GATA4):c.321C>G (p.Arg107=)
NM_001308093.3(GATA4):c.326C>G (p.Ser109Cys) rs1554488532
NM_001308093.3(GATA4):c.32A>C (p.His11Pro)
NM_001308093.3(GATA4):c.330C>A (p.Phe110Leu) rs779273192
NM_001308093.3(GATA4):c.333G>A (p.Pro111=) rs1331416104
NM_001308093.3(GATA4):c.335G>C (p.Gly112Ala)
NM_001308093.3(GATA4):c.342C>T (p.Thr114=)
NM_001308093.3(GATA4):c.343G>T (p.Gly115Trp) rs1488801698
NM_001308093.3(GATA4):c.347C>T (p.Ser116Phe)
NM_001308093.3(GATA4):c.34G>T (p.Gly12Trp)
NM_001308093.3(GATA4):c.357C>G (p.Ala119=) rs2130069809
NM_001308093.3(GATA4):c.357CGC[2] (p.Ala125_Ala126del) rs1182566703
NM_001308093.3(GATA4):c.357CGC[5] (p.Ala126dup) rs1182566703
NM_001308093.3(GATA4):c.358_393dup (p.Ala120_Ala131dup) rs1800012863
NM_001308093.3(GATA4):c.360_374dup (p.Ala126_Arg127insAlaAlaAlaAlaAla)
NM_001308093.3(GATA4):c.366C>A (p.Ala122=)
NM_001308093.3(GATA4):c.366C>T (p.Ala122=) rs1471365872
NM_001308093.3(GATA4):c.367G>C (p.Ala123Pro)
NM_001308093.3(GATA4):c.368C>G (p.Ala123Gly)
NM_001308093.3(GATA4):c.369T>C (p.Ala123=)
NM_001308093.3(GATA4):c.369T>G (p.Ala123=)
NM_001308093.3(GATA4):c.369_374dup (p.Ala125_Ala126dup) rs1462657175
NM_001308093.3(GATA4):c.36G>A (p.Gly12=)
NM_001308093.3(GATA4):c.378C>T (p.Ala126=)
NM_001308093.3(GATA4):c.385G>A (p.Ala129Thr)
NM_001308093.3(GATA4):c.387T>A (p.Ala129=)
NM_001308093.3(GATA4):c.390G>A (p.Ala130=) rs2130070163
NM_001308093.3(GATA4):c.395A>G (p.Tyr132Cys)
NM_001308093.3(GATA4):c.399C>A (p.Ser133Arg) rs1362379796
NM_001308093.3(GATA4):c.400A>G (p.Ser134Gly)
NM_001308093.3(GATA4):c.400A>T (p.Ser134Cys) rs1295769704
NM_001308093.3(GATA4):c.404G>T (p.Gly135Val)
NM_001308093.3(GATA4):c.406G>C (p.Gly136Arg) rs1161266023
NM_001308093.3(GATA4):c.409G>T (p.Gly137Ter)
NM_001308093.3(GATA4):c.413C>A (p.Ala138Glu)
NM_001308093.3(GATA4):c.413C>T (p.Ala138Val)
NM_001308093.3(GATA4):c.416C>T (p.Ala139Val)
NM_001308093.3(GATA4):c.419G>T (p.Gly140Val)
NM_001308093.3(GATA4):c.423G>A (p.Ala141=) rs1404734578
NM_001308093.3(GATA4):c.424G>A (p.Gly142Ser) rs1585596441
NM_001308093.3(GATA4):c.427C>T (p.Leu143=) rs2130070594
NM_001308093.3(GATA4):c.428_436dup (p.Leu143_Gly145dup) rs2130070508
NM_001308093.3(GATA4):c.429G>C (p.Leu143=)
NM_001308093.3(GATA4):c.430G>A (p.Ala144Thr)
NM_001308093.3(GATA4):c.432G>T (p.Ala144=) rs1356013644
NM_001308093.3(GATA4):c.438C>G (p.Arg146=)
NM_001308093.3(GATA4):c.439G>A (p.Glu147Lys) rs1800019519
NM_001308093.3(GATA4):c.43C>T (p.Pro15Ser) rs1799990782
NM_001308093.3(GATA4):c.441G>A (p.Glu147=) rs1800019637
NM_001308093.3(GATA4):c.443A>C (p.Gln148Pro) rs1800019742
NM_001308093.3(GATA4):c.443A>T (p.Gln148Leu) rs1800019742
NM_001308093.3(GATA4):c.444G>A (p.Gln148=) rs1352635163
NM_001308093.3(GATA4):c.448G>A (p.Gly150Arg)
NM_001308093.3(GATA4):c.448G>C (p.Gly150Arg)
NM_001308093.3(GATA4):c.451C>A (p.Arg151Ser)
NM_001308093.3(GATA4):c.454_455delinsTT (p.Ala152Phe) rs1800020370
NM_001308093.3(GATA4):c.456C>T (p.Ala152=)
NM_001308093.3(GATA4):c.465G>A (p.Ala155=)
NM_001308093.3(GATA4):c.474C>T (p.Tyr158=)
NM_001308093.3(GATA4):c.476C>A (p.Ser159Tyr)
NM_001308093.3(GATA4):c.480C>T (p.Ser160=) rs2130071100
NM_001308093.3(GATA4):c.48_71del (p.Tyr18_Ala25del) rs1453901762
NM_001308093.3(GATA4):c.495C>T (p.Tyr165=)
NM_001308093.3(GATA4):c.496A>G (p.Met166Val)
NM_001308093.3(GATA4):c.499G>A (p.Ala167Thr)
NM_001308093.3(GATA4):c.500C>T (p.Ala167Val)
NM_001308093.3(GATA4):c.501C>G (p.Ala167=)
NM_001308093.3(GATA4):c.508G>C (p.Gly170Arg) rs1800024355
NM_001308093.3(GATA4):c.512C>G (p.Ala171Gly)
NM_001308093.3(GATA4):c.516C>T (p.Ser172=)
NM_001308093.3(GATA4):c.525A>T (p.Ala175=)
NM_001308093.3(GATA4):c.525_530dup (p.Ala178_Ala179dup) rs1554488651
NM_001308093.3(GATA4):c.525_533dup (p.Ala177_Ala179dup) rs1372778585
NM_001308093.3(GATA4):c.526GCC[1] (p.Ala177_Ala179del) rs766802125
NM_001308093.3(GATA4):c.526GCC[5] (p.Ala179_Ser180insAla)
NM_001308093.3(GATA4):c.526GCC[7] (p.Ala177_Ala179dup) rs766802125
NM_001308093.3(GATA4):c.529G>A (p.Ala177Thr)
NM_001308093.3(GATA4):c.532G>A (p.Ala178Thr)
NM_001308093.3(GATA4):c.532G>T (p.Ala178Ser) rs1800026498
NM_001308093.3(GATA4):c.533C>T (p.Ala178Val) rs1229035049
NM_001308093.3(GATA4):c.538_543dup (p.Ser180_Ala181dup) rs1800026723
NM_001308093.3(GATA4):c.542C>T (p.Ala181Val) rs1800027233
NM_001308093.3(GATA4):c.543C>A (p.Ala181=) rs544097659
NM_001308093.3(GATA4):c.543C>G (p.Ala181=) rs544097659
NM_001308093.3(GATA4):c.543C>T (p.Ala181=) rs544097659
NM_001308093.3(GATA4):c.545G>A (p.Gly182Asp) rs1800027591
NM_001308093.3(GATA4):c.546C>T (p.Gly182=) rs2130071849
NM_001308093.3(GATA4):c.548C>T (p.Pro183Leu)
NM_001308093.3(GATA4):c.54C>A (p.Tyr18Ter) rs1799991762
NM_001308093.3(GATA4):c.54C>G (p.Tyr18Ter) rs1799991762
NM_001308093.3(GATA4):c.552C>T (p.Phe184=)
NM_001308093.3(GATA4):c.560C>G (p.Pro187Arg)
NM_001308093.3(GATA4):c.560C>T (p.Pro187Leu) rs1800028058
NM_001308093.3(GATA4):c.561G>A (p.Pro187=)
NM_001308093.3(GATA4):c.561G>T (p.Pro187=)
NM_001308093.3(GATA4):c.567G>A (p.Leu189=) rs1554488672
NM_001308093.3(GATA4):c.577C>T (p.Pro193Ser) rs1392529691
NM_001308093.3(GATA4):c.584G>C (p.Arg195Pro) rs1334859780
NM_001308093.3(GATA4):c.586G>C (p.Ala196Pro)
NM_001308093.3(GATA4):c.590A>T (p.Asn197Ile) rs1050253618
NM_001308093.3(GATA4):c.594G>T (p.Pro198=) rs1213779475
NM_001308093.3(GATA4):c.597C>G (p.Ala199=)
NM_001308093.3(GATA4):c.601C>A (p.Arg201=)
NM_001308093.3(GATA4):c.603A>G (p.Arg201=)
NM_001308093.3(GATA4):c.607C>T (p.Pro203Ser)
NM_001308093.3(GATA4):c.615C>T (p.Leu205=)
NM_001308093.3(GATA4):c.616+10A>C
NM_001308093.3(GATA4):c.616+15G>C rs767068839
NM_001308093.3(GATA4):c.616+17G>C
NM_001308093.3(GATA4):c.616+3G>A rs1800033657
NM_001308093.3(GATA4):c.617-12C>A rs763950464
NM_001308093.3(GATA4):c.617-13C>T
NM_001308093.3(GATA4):c.623T>A (p.Met208Lys) rs140892695
NM_001308093.3(GATA4):c.629A>T (p.Asp210Val)
NM_001308093.3(GATA4):c.631G>T (p.Asp211Tyr) rs377673676
NM_001308093.3(GATA4):c.635_637del (p.Phe212del)
NM_001308093.3(GATA4):c.638C>T (p.Ser213Leu)
NM_001308093.3(GATA4):c.639A>C (p.Ser213=)
NM_001308093.3(GATA4):c.63C>G (p.Gly21=)
NM_001308093.3(GATA4):c.64G>T (p.Gly22Cys)
NM_001308093.3(GATA4):c.655_656del (p.Val219fs)
NM_001308093.3(GATA4):c.657C>T (p.Val219=)
NM_001308093.3(GATA4):c.65G>T (p.Gly22Val)
NM_001308093.3(GATA4):c.667G>A (p.Ala223Thr) rs1585684709
NM_001308093.3(GATA4):c.678C>A (p.Thr226=)
NM_001308093.3(GATA4):c.67C>T (p.Pro23Ser)
NM_001308093.3(GATA4):c.680C>T (p.Pro227Leu) rs2130306950
NM_001308093.3(GATA4):c.681G>A (p.Pro227=)
NM_001308093.3(GATA4):c.684C>G (p.Leu228=) rs1563227410
NM_001308093.3(GATA4):c.692G>A (p.Arg231Gln)
NM_001308093.3(GATA4):c.699G>C (p.Gly233=) rs2130307080
NM_001308093.3(GATA4):c.702G>A (p.Thr234=) rs55788387
NM_001308093.3(GATA4):c.702G>C (p.Thr234=) rs55788387
NM_001308093.3(GATA4):c.70G>A (p.Gly24Ser)
NM_001308093.3(GATA4):c.716G>T (p.Cys239Phe)
NM_001308093.3(GATA4):c.72C>T (p.Gly24=)
NM_001308093.3(GATA4):c.730C>G (p.Leu244Val)
NM_001308093.3(GATA4):c.743T>C (p.Met248Thr) rs1131691325
NM_001308093.3(GATA4):c.747C>A (p.Asn249Lys) rs140212153
NM_001308093.3(GATA4):c.748G>T (p.Gly250Cys) rs1431297203
NM_001308093.3(GATA4):c.761C>T (p.Pro254Leu) rs771792843
NM_001308093.3(GATA4):c.765C>T (p.Leu255=)
NM_001308093.3(GATA4):c.766A>G (p.Ile256Val) rs914253048
NM_001308093.3(GATA4):c.773C>G (p.Pro258Arg)
NM_001308093.3(GATA4):c.778C>G (p.Arg260Gly) rs1437389442
NM_001308093.3(GATA4):c.778C>T (p.Arg260Cys) rs1437389442
NM_001308093.3(GATA4):c.779G>A (p.Arg260His) rs1188422407
NM_001308093.3(GATA4):c.781C>T (p.Arg261Trp)
NM_001308093.3(GATA4):c.786+10T>G
NM_001308093.3(GATA4):c.786+17C>T
NM_001308093.3(GATA4):c.786+9G>A
NM_001308093.3(GATA4):c.786+9G>T rs752147603
NM_001308093.3(GATA4):c.787-11C>T rs1802226812
NM_001308093.3(GATA4):c.787-20A>G rs2130312704
NM_001308093.3(GATA4):c.790G>T (p.Ala264Ser) rs201520087
NM_001308093.3(GATA4):c.794C>G (p.Ser265Cys) rs1563228364
NM_001308093.3(GATA4):c.797G>A (p.Arg266His)
NM_001308093.3(GATA4):c.802G>C (p.Val268Leu) rs116781972
NM_001308093.3(GATA4):c.82C>T (p.His28Tyr)
NM_001308093.3(GATA4):c.830C>G (p.Thr277Ser)
NM_001308093.3(GATA4):c.832A>G (p.Thr278Ala)
NM_001308093.3(GATA4):c.840C>T (p.Thr280=) rs141114164
NM_001308093.3(GATA4):c.842C>T (p.Thr281Met) rs387906771
NM_001308093.3(GATA4):c.846G>C (p.Leu282=)
NM_001308093.3(GATA4):c.84C>T (p.His28=)
NM_001308093.3(GATA4):c.851G>A (p.Arg284His) rs180765750
NM_001308093.3(GATA4):c.852C>G (p.Arg284=)
NM_001308093.3(GATA4):c.853C>T (p.Arg285Cys)
NM_001308093.3(GATA4):c.854G>A (p.Arg285His) rs2130313276
NM_001308093.3(GATA4):c.858T>C (p.Asn286=)
NM_001308093.3(GATA4):c.868G>A (p.Glu290Lys)
NM_001308093.3(GATA4):c.879C>G (p.Cys293Trp) rs2130313407
NM_001308093.3(GATA4):c.879C>T (p.Cys293=) rs2130313407
NM_001308093.3(GATA4):c.887G>C (p.Cys296Ser)
NM_001308093.3(GATA4):c.89C>T (p.Ala30Val)
NM_001308093.3(GATA4):c.903G>A (p.Lys301=) rs1585687961
NM_001308093.3(GATA4):c.912+11C>T
NM_001308093.3(GATA4):c.912+17C>T
NM_001308093.3(GATA4):c.912+19C>G
NM_001308093.3(GATA4):c.912+19C>T
NM_001308093.3(GATA4):c.912+4C>A
NM_001308093.3(GATA4):c.912+4C>T rs374161282
NM_001308093.3(GATA4):c.912+5G>T rs371005520
NM_001308093.3(GATA4):c.912+7G>C
NM_001308093.3(GATA4):c.912+9G>A
NM_001308093.3(GATA4):c.913-14T>C
NM_001308093.3(GATA4):c.913-16A>C
NM_001308093.3(GATA4):c.913-16A>G rs1802484971
NM_001308093.3(GATA4):c.913-18T>G
NM_001308093.3(GATA4):c.913-19T>A
NM_001308093.3(GATA4):c.913-3C>T
NM_001308093.3(GATA4):c.913-4C>T rs947982256
NM_001308093.3(GATA4):c.913-8C>A
NM_001308093.3(GATA4):c.920G>A (p.Arg307Lys) rs1554498327
NM_001308093.3(GATA4):c.921G>A (p.Arg307=)
NM_001308093.3(GATA4):c.923C>G (p.Pro308Arg)
NM_001308093.3(GATA4):c.923C>T (p.Pro308Leu)
NM_001308093.3(GATA4):c.931A>C (p.Met311Leu) rs387906772
NM_001308093.3(GATA4):c.934C>A (p.Arg312=) rs138404762
NM_001308093.3(GATA4):c.934C>T (p.Arg312Trp) rs138404762
NM_001308093.3(GATA4):c.935G>A (p.Arg312Gln) rs1585698628
NM_001308093.3(GATA4):c.93C>A (p.Gly31=)
NM_001308093.3(GATA4):c.949C>G (p.Gln317Glu) rs56298569
NM_001308093.3(GATA4):c.956G>A (p.Arg319Lys) rs1554498346
NM_001308093.3(GATA4):c.961C>T (p.Arg321Trp) rs1282433424
NM_001308093.3(GATA4):c.962G>A (p.Arg321Gln) rs2130338262
NM_001308093.3(GATA4):c.963G>A (p.Arg321=) rs2130338269
NM_001308093.3(GATA4):c.966G>A (p.Lys322=) rs995668697
NM_001308093.3(GATA4):c.973A>G (p.Asn325Asp) rs2130338330
NM_001308093.3(GATA4):c.978G>T (p.Leu326=) rs939153862
NM_001308093.3(GATA4):c.990G>C (p.Lys330Asn)
NM_001308093.3(GATA4):c.991A>T (p.Thr331Ser)
NM_001308093.3(GATA4):c.992C>G (p.Thr331Arg) rs1563231799
NM_001308093.3(GATA4):c.999A>C (p.Ala333=) rs1554498361
NM_005257.6(GATA6):c.1000C>T (p.Pro334Ser)
NM_005257.6(GATA6):c.1002G>A (p.Pro334=)
NM_005257.6(GATA6):c.1005C>T (p.Ser335=) rs2143278591
NM_005257.6(GATA6):c.1015C>T (p.Pro339Ser) rs2033061691
NM_005257.6(GATA6):c.1021G>T (p.Val341Leu)
NM_005257.6(GATA6):c.1024G>C (p.Gly342Arg) rs1468414837
NM_005257.6(GATA6):c.1025G>A (p.Gly342Glu) rs1433160408
NM_005257.6(GATA6):c.1031C>T (p.Pro344Leu) rs1598734418
NM_005257.6(GATA6):c.1050C>T (p.Pro350=) rs976781879
NM_005257.6(GATA6):c.1051G>A (p.Ala351Thr) rs1462457750
NM_005257.6(GATA6):c.1053C>G (p.Ala351=)
NM_005257.6(GATA6):c.1053C>T (p.Ala351=) rs1399574460
NM_005257.6(GATA6):c.1054G>A (p.Gly352Arg) rs1369316608
NM_005257.6(GATA6):c.1066A>C (p.Thr356Pro)
NM_005257.6(GATA6):c.1070C>T (p.Pro357Leu)
NM_005257.6(GATA6):c.1086G>T (p.Leu362=)
NM_005257.6(GATA6):c.1089G>T (p.Gln363His) rs1253142325
NM_005257.6(GATA6):c.1096G>A (p.Ala366Thr)
NM_005257.6(GATA6):c.1099G>A (p.Gly367Arg)
NM_005257.6(GATA6):c.1104C>T (p.Ala368=)
NM_005257.6(GATA6):c.1106C>G (p.Pro369Arg)
NM_005257.6(GATA6):c.1107G>A (p.Pro369=)
NM_005257.6(GATA6):c.1108C>T (p.Leu370Phe) rs922570984
NM_005257.6(GATA6):c.1112C>G (p.Pro371Arg)
NM_005257.6(GATA6):c.1119_1133dup (p.Ala378_Asp379insArgGlyProSerAla)
NM_005257.6(GATA6):c.1135+12G>C
NM_005257.6(GATA6):c.1135+14dup rs943255115
NM_005257.6(GATA6):c.1135+16C>T
NM_005257.6(GATA6):c.1135+6G>A
NM_005257.6(GATA6):c.1135+6G>T
NM_005257.6(GATA6):c.1135+9C>T rs76308670
NM_005257.6(GATA6):c.1136-14C>T
NM_005257.6(GATA6):c.1136-19C>A
NM_005257.6(GATA6):c.1140G>A (p.Leu380=)
NM_005257.6(GATA6):c.1142T>C (p.Leu381Pro) rs1389738061
NM_005257.6(GATA6):c.1152G>T (p.Leu384=) rs1479772095
NM_005257.6(GATA6):c.1155C>G (p.Ser385=)
NM_005257.6(GATA6):c.1157A>G (p.Glu386Gly) rs1567995562
NM_005257.6(GATA6):c.1161C>T (p.Ser387=) rs1481597424
NM_005257.6(GATA6):c.116T>C (p.Ile39Thr)
NM_005257.6(GATA6):c.1170C>T (p.Cys390=) rs1192312578
NM_005257.6(GATA6):c.119C>T (p.Ser40Phe) rs2033036579
NM_005257.6(GATA6):c.1209G>A (p.Arg403=) rs2143289871
NM_005257.6(GATA6):c.1217C>G (p.Thr406Ser)
NM_005257.6(GATA6):c.1236C>T (p.Asn412=)
NM_005257.6(GATA6):c.1245G>T (p.Gly415=) rs1180175270
NM_005257.6(GATA6):c.1246C>A (p.Leu416Ile)
NM_005257.6(GATA6):c.1246C>T (p.Leu416Phe) rs2033130661
NM_005257.6(GATA6):c.1257G>A (p.Lys419=)
NM_005257.6(GATA6):c.1281C>T (p.Leu427=)
NM_005257.6(GATA6):c.128C>A (p.Ser43Tyr)
NM_005257.6(GATA6):c.128C>G (p.Ser43Cys)
NM_005257.6(GATA6):c.128CCT[2] (p.Ser45del) rs1201519482
NM_005257.6(GATA6):c.1297C>T (p.Arg433Cys) rs2033131746
NM_005257.6(GATA6):c.1299C>G (p.Arg433=) rs887805315
NM_005257.6(GATA6):c.1301T>C (p.Val434Ala) rs2033131897
NM_005257.6(GATA6):c.1302+12C>T
NM_005257.6(GATA6):c.1302+14G>A
NM_005257.6(GATA6):c.1302+20_1302+52del
NM_005257.6(GATA6):c.1303-13G>T
NM_005257.6(GATA6):c.1303-6T>C rs1555629497
NM_005257.6(GATA6):c.1303-8G>C
NM_005257.6(GATA6):c.130T>G (p.Ser44Ala) rs2143273972
NM_005257.6(GATA6):c.1313G>A (p.Arg438Gln)
NM_005257.6(GATA6):c.1320T>A (p.Leu440=) rs146624465
NM_005257.6(GATA6):c.1320T>C (p.Leu440=) rs146624465
NM_005257.6(GATA6):c.1321G>T (p.Gly441Ter) rs2143300665
NM_005257.6(GATA6):c.1329C>G (p.Ser443=) rs768460903
NM_005257.6(GATA6):c.1329C>T (p.Ser443=) rs768460903
NM_005257.6(GATA6):c.1336A>G (p.Asn446Asp) rs2143300702
NM_005257.6(GATA6):c.1343A>C (p.His448Pro) rs1380534258
NM_005257.6(GATA6):c.134C>T (p.Ser45Phe)
NM_005257.6(GATA6):c.1350_1358del (p.Thr451_Thr453del) rs2033195426
NM_005257.6(GATA6):c.1373A>G (p.Asn458Ser) rs765926114
NM_005257.6(GATA6):c.1380G>A (p.Glu460=) rs2143300898
NM_005257.6(GATA6):c.1382G>T (p.Gly461Val)
NM_005257.6(GATA6):c.1398T>C (p.Asn466=)
NM_005257.6(GATA6):c.140C>G (p.Ser47Cys)
NM_005257.6(GATA6):c.1418_1424del (p.Lys473fs) rs2143300954
NM_005257.6(GATA6):c.1428+10G>A
NM_005257.6(GATA6):c.1428+9T>A rs751665524
NM_005257.6(GATA6):c.1429-17A>G
NM_005257.6(GATA6):c.1457_1458del (p.Glu486fs) rs1598737972
NM_005257.6(GATA6):c.1477C>T (p.Arg493Ter) rs1598737976
NM_005257.6(GATA6):c.1488G>T (p.Lys496Asn)
NM_005257.6(GATA6):c.148_159dup (p.Gly53_Pro54insGlyGluArgGly)
NM_005257.6(GATA6):c.1492A>G (p.Ile498Val)
NM_005257.6(GATA6):c.1506G>T (p.Lys502Asn) rs1598737982
NM_005257.6(GATA6):c.1515T>G (p.Ser505=) rs770405157
NM_005257.6(GATA6):c.1516+15A>G rs901042088
NM_005257.6(GATA6):c.1516+20G>A
NM_005257.6(GATA6):c.1516+20G>C
NM_005257.6(GATA6):c.151G>T (p.Glu51Ter)
NM_005257.6(GATA6):c.1529A>G (p.Asn510Ser)
NM_005257.6(GATA6):c.1559C>T (p.Ser520Phe)
NM_005257.6(GATA6):c.155G>C (p.Arg52Pro) rs541150137
NM_005257.6(GATA6):c.1575T>G (p.Asp525Glu)
NM_005257.6(GATA6):c.1578C>T (p.Cys526=) rs2033217814
NM_005257.6(GATA6):c.157G>A (p.Gly53Ser) rs1311659713
NM_005257.6(GATA6):c.1596C>A (p.Pro532=)
NM_005257.6(GATA6):c.1596C>G (p.Pro532=)
NM_005257.6(GATA6):c.160C>G (p.Pro54Ala)
NM_005257.6(GATA6):c.160C>T (p.Pro54Ser)
NM_005257.6(GATA6):c.1617A>G (p.Ser539=)
NM_005257.6(GATA6):c.1618G>C (p.Gly540Arg)
NM_005257.6(GATA6):c.1620+18A>T rs2143304391
NM_005257.6(GATA6):c.1620+19T>C
NM_005257.6(GATA6):c.1620+7A>T
NM_005257.6(GATA6):c.1621-14C>T
NM_005257.6(GATA6):c.1621-15C>T
NM_005257.6(GATA6):c.1621-20G>T
NM_005257.6(GATA6):c.1621G>A (p.Ala541Thr) rs2143345732
NM_005257.6(GATA6):c.1622C>T (p.Ala541Val)
NM_005257.6(GATA6):c.1631C>A (p.Pro544Gln) rs767156756
NM_005257.6(GATA6):c.1634T>A (p.Val545Glu)
NM_005257.6(GATA6):c.1634T>G (p.Val545Gly)
NM_005257.6(GATA6):c.1636A>G (p.Met546Val)
NM_005257.6(GATA6):c.1638G>T (p.Met546Ile)
NM_005257.6(GATA6):c.1647G>C (p.Ala549=)
NM_005257.6(GATA6):c.1653G>A (p.Glu551=) rs564934973
NM_005257.6(GATA6):c.1653G>C (p.Glu551Asp) rs564934973
NM_005257.6(GATA6):c.1654A>G (p.Ser552Gly) rs747690300
NM_005257.6(GATA6):c.1660A>C (p.Asn554His)
NM_005257.6(GATA6):c.1665C>T (p.Pro555=)
NM_005257.6(GATA6):c.1688C>G (p.Ser563Trp)
NM_005257.6(GATA6):c.1689G>A (p.Ser563=)
NM_005257.6(GATA6):c.16G>C (p.Gly6Arg) rs139750927
NM_005257.6(GATA6):c.1723G>T (p.Ala575Ser)
NM_005257.6(GATA6):c.1728G>A (p.Ser576=)
NM_005257.6(GATA6):c.172A>G (p.Ser58Gly) rs924843423
NM_005257.6(GATA6):c.1749C>T (p.Ser583=) rs142079702
NM_005257.6(GATA6):c.1754G>A (p.Arg585Gln) rs201707559
NM_005257.6(GATA6):c.1756C>G (p.Pro586Ala)
NM_005257.6(GATA6):c.1764C>T (p.Ser588=) rs1333538423
NM_005257.6(GATA6):c.1770C>T (p.Cys590=)
NM_005257.6(GATA6):c.1774C>G (p.Leu592Val) rs774669486
NM_005257.6(GATA6):c.1774CTGGCC[3] (p.Ala595_Ter596insLeuAla)
NM_005257.6(GATA6):c.1784C>T (p.Ala595Val) rs2143346650
NM_005257.6(GATA6):c.1785C>G (p.Ala595=) rs766211079
NM_005257.6(GATA6):c.180C>G (p.Cys60Trp) rs1431278250
NM_005257.6(GATA6):c.180C>T (p.Cys60=)
NM_005257.6(GATA6):c.186G>A (p.Thr62=)
NM_005257.6(GATA6):c.18C>A (p.Gly6=) rs2143273333
NM_005257.6(GATA6):c.193C>A (p.Leu65Ile) rs2143274330
NM_005257.6(GATA6):c.196G>A (p.Asp66Asn)
NM_005257.6(GATA6):c.196G>C (p.Asp66His) rs554577705
NM_005257.6(GATA6):c.199A>G (p.Thr67Ala)
NM_005257.6(GATA6):c.19G>A (p.Gly7Ser)
NM_005257.6(GATA6):c.217C>A (p.Pro73Thr)
NM_005257.6(GATA6):c.233T>C (p.Leu78Pro) rs1253034411
NM_005257.6(GATA6):c.234G>A (p.Leu78=)
NM_005257.6(GATA6):c.273C>A (p.Pro91=)
NM_005257.6(GATA6):c.291T>C (p.Pro97=)
NM_005257.6(GATA6):c.296T>C (p.Val99Ala)
NM_005257.6(GATA6):c.297C>T (p.Val99=) rs2143275034
NM_005257.6(GATA6):c.2T>A (p.Met1Lys)
NM_005257.6(GATA6):c.300G>T (p.Ala100=) rs767279089
NM_005257.6(GATA6):c.303C>T (p.Gly101=)
NM_005257.6(GATA6):c.308G>A (p.Gly103Glu) rs1207902692
NM_005257.6(GATA6):c.329A>G (p.Glu110Gly)
NM_005257.6(GATA6):c.32C>T (p.Pro11Leu) rs1598733637
NM_005257.6(GATA6):c.334_335delinsCG (p.Leu112Arg)
NM_005257.6(GATA6):c.336G>A (p.Leu112=)
NM_005257.6(GATA6):c.342G>A (p.Leu114=) rs2143275390
NM_005257.6(GATA6):c.351C>G (p.Asp117Glu)
NM_005257.6(GATA6):c.358C>T (p.Gln120Ter)
NM_005257.6(GATA6):c.361G>A (p.Ala121Thr) rs2143275441
NM_005257.6(GATA6):c.364G>A (p.Ala122Thr) rs1245960637
NM_005257.6(GATA6):c.369C>T (p.Thr123=) rs747422213
NM_005257.6(GATA6):c.373A>G (p.Ser125Gly)
NM_005257.6(GATA6):c.399C>T (p.Gly133=)
NM_005257.6(GATA6):c.400G>A (p.Ala134Thr)
NM_005257.6(GATA6):c.401C>A (p.Ala134Asp)
NM_005257.6(GATA6):c.422C>G (p.Pro141Arg) rs2033047742
NM_005257.6(GATA6):c.423C>G (p.Pro141=)
NM_005257.6(GATA6):c.425A>G (p.Glu142Gly)
NM_005257.6(GATA6):c.431C>G (p.Pro144Arg)
NM_005257.6(GATA6):c.432G>A (p.Pro144=)
NM_005257.6(GATA6):c.433G>A (p.Glu145Lys) rs1403238515
NM_005257.6(GATA6):c.433G>C (p.Glu145Gln) rs1403238515
NM_005257.6(GATA6):c.43G>A (p.Gly15Arg) rs116262672
NM_005257.6(GATA6):c.454G>T (p.Ala152Ser)
NM_005257.6(GATA6):c.457G>T (p.Ala153Ser) rs1354600110
NM_005257.6(GATA6):c.460C>G (p.Leu154Val) rs2143275968
NM_005257.6(GATA6):c.465C>T (p.Ser155=)
NM_005257.6(GATA6):c.474T>C (p.Gly158=)
NM_005257.6(GATA6):c.475C>T (p.Pro159Ser)
NM_005257.6(GATA6):c.481G>A (p.Ala161Thr) rs559922666
NM_005257.6(GATA6):c.481G>T (p.Ala161Ser) rs559922666
NM_005257.6(GATA6):c.48C>G (p.Ala16=) rs764776127
NM_005257.6(GATA6):c.490G>A (p.Gly164Ser)
NM_005257.6(GATA6):c.499G>C (p.Gly167Arg) rs770251106
NM_005257.6(GATA6):c.503G>A (p.Gly168Asp) rs917494899
NM_005257.6(GATA6):c.507C>T (p.Phe169=)
NM_005257.6(GATA6):c.524C>T (p.Ala175Val)
NM_005257.6(GATA6):c.525G>T (p.Ala175=) rs759587190
NM_005257.6(GATA6):c.52G>C (p.Gly18Arg) rs2033034160
NM_005257.6(GATA6):c.531_545del (p.Ala179_Ala183del)
NM_005257.6(GATA6):c.531_548del (p.Ala178_Ala183del) rs1198054146
NM_005257.6(GATA6):c.540GGC[4] (p.Ala183dup) rs762101807
NM_005257.6(GATA6):c.545C>G (p.Ala182Gly)
NM_005257.6(GATA6):c.557C>G (p.Pro186Arg) rs1385341551
NM_005257.6(GATA6):c.564C>T (p.Tyr188=)
NM_005257.6(GATA6):c.56C>A (p.Ala19Glu)
NM_005257.6(GATA6):c.576C>T (p.Thr192=) rs2033051987
NM_005257.6(GATA6):c.57G>A (p.Ala19=) rs764489452
NM_005257.6(GATA6):c.589A>G (p.Met197Val) rs1245355073
NM_005257.6(GATA6):c.592C>A (p.Leu198Met) rs387906814
NM_005257.6(GATA6):c.613C>T (p.Leu205=)
NM_005257.6(GATA6):c.616C>T (p.Gln206Ter)
NM_005257.6(GATA6):c.618G>A (p.Gln206=)
NM_005257.6(GATA6):c.621G>A (p.Gly207=)
NM_005257.6(GATA6):c.622T>A (p.Ser208Thr)
NM_005257.6(GATA6):c.627C>G (p.Gly209=)
NM_005257.6(GATA6):c.629G>C (p.Ser210Thr) rs2143276783
NM_005257.6(GATA6):c.631G>C (p.Gly211Arg)
NM_005257.6(GATA6):c.637G>A (p.Ala213Thr)
NM_005257.6(GATA6):c.642C>G (p.Asn214Lys) rs1369843629
NM_005257.6(GATA6):c.646G>A (p.Ala216Thr)
NM_005257.6(GATA6):c.648G>A (p.Ala216=)
NM_005257.6(GATA6):c.656C>A (p.Ala219Glu) rs2033054015
NM_005257.6(GATA6):c.666C>T (p.His222=)
NM_005257.6(GATA6):c.667C>A (p.Pro223Thr)
NM_005257.6(GATA6):c.668C>T (p.Pro223Leu)
NM_005257.6(GATA6):c.670G>A (p.Gly224Ser)
NM_005257.6(GATA6):c.67_68delinsTT (p.Asp23Phe)
NM_005257.6(GATA6):c.682G>A (p.Ala228Thr)
NM_005257.6(GATA6):c.686C>G (p.Ser229Trp) rs1420896186
NM_005257.6(GATA6):c.686C>T (p.Ser229Leu) rs1420896186
NM_005257.6(GATA6):c.687G>C (p.Ser229=) rs1189580893
NM_005257.6(GATA6):c.698C>A (p.Pro233His) rs2143277046
NM_005257.6(GATA6):c.702A>C (p.Pro234=)
NM_005257.6(GATA6):c.704A>T (p.Tyr235Phe)
NM_005257.6(GATA6):c.706G>A (p.Gly236Ser) rs904551659
NM_005257.6(GATA6):c.706G>C (p.Gly236Arg)
NM_005257.6(GATA6):c.706G>T (p.Gly236Cys) rs904551659
NM_005257.6(GATA6):c.721G>C (p.Ala241Pro) rs2143277140
NM_005257.6(GATA6):c.730G>A (p.Gly244Ser) rs1355067748
NM_005257.6(GATA6):c.734_754del (p.Gly245_Gly251del)
NM_005257.6(GATA6):c.734_754dup (p.Gly245_Gly251dup) rs1316111445
NM_005257.6(GATA6):c.740C>G (p.Ala247Gly) rs2033055492
NM_005257.6(GATA6):c.740C>T (p.Ala247Val)
NM_005257.6(GATA6):c.743G>A (p.Gly248Glu) rs1014382084
NM_005257.6(GATA6):c.749G>T (p.Gly250Val)
NM_005257.6(GATA6):c.750C>A (p.Gly250=) rs1024528816
NM_005257.6(GATA6):c.750C>G (p.Gly250=)
NM_005257.6(GATA6):c.750C>T (p.Gly250=) rs1024528816
NM_005257.6(GATA6):c.759C>T (p.Gly253=)
NM_005257.6(GATA6):c.765C>A (p.Ala255=) rs926270539
NM_005257.6(GATA6):c.765C>G (p.Ala255=) rs926270539
NM_005257.6(GATA6):c.765C>T (p.Ala255=) rs926270539
NM_005257.6(GATA6):c.766G>A (p.Ala256Thr) rs1555628783
NM_005257.6(GATA6):c.769G>A (p.Ala257Thr)
NM_005257.6(GATA6):c.771G>A (p.Ala257=)
NM_005257.6(GATA6):c.771G>T (p.Ala257=)
NM_005257.6(GATA6):c.779C>T (p.Ser260Leu)
NM_005257.6(GATA6):c.780G>T (p.Ser260=) rs1157916092
NM_005257.6(GATA6):c.782C>T (p.Ala261Val)
NM_005257.6(GATA6):c.794A>G (p.Tyr265Cys)
NM_005257.6(GATA6):c.797C>G (p.Ser266Cys) rs2143277461
NM_005257.6(GATA6):c.798T>C (p.Ser266=) rs2143277468
NM_005257.6(GATA6):c.803G>C (p.Ser268Thr) rs2033057141
NM_005257.6(GATA6):c.806C>G (p.Pro269Arg)
NM_005257.6(GATA6):c.810C>T (p.Pro270=) rs2033057273
NM_005257.6(GATA6):c.812T>C (p.Met271Thr)
NM_005257.6(GATA6):c.819C>T (p.Asn273=) rs943267073
NM_005257.6(GATA6):c.820G>T (p.Gly274Cys) rs2033057411
NM_005257.6(GATA6):c.822C>T (p.Gly274=) rs1598734312
NM_005257.6(GATA6):c.826G>A (p.Ala276Thr) rs1555628811
NM_005257.6(GATA6):c.829C>T (p.Arg277Trp) rs2143277600
NM_005257.6(GATA6):c.834G>T (p.Glu278Asp) rs2033057637
NM_005257.6(GATA6):c.837G>T (p.Pro279=) rs1350572697
NM_005257.6(GATA6):c.838G>T (p.Gly280Ter) rs2033057699
NM_005257.6(GATA6):c.842G>C (p.Gly281Ala) rs2143277659
NM_005257.6(GATA6):c.847G>A (p.Ala283Thr)
NM_005257.6(GATA6):c.851C>A (p.Ala284Glu) rs185325359
NM_005257.6(GATA6):c.862G>C (p.Gly288Arg) rs1268789855
NM_005257.6(GATA6):c.863G>A (p.Gly288Glu) rs2143277784
NM_005257.6(GATA6):c.866G>A (p.Gly289Asp)
NM_005257.6(GATA6):c.867C>T (p.Gly289=)
NM_005257.6(GATA6):c.868G>A (p.Ala290Thr) rs2033058388
NM_005257.6(GATA6):c.868G>T (p.Ala290Ser)
NM_005257.6(GATA6):c.86C>A (p.Ala29Glu) rs1185015412
NM_005257.6(GATA6):c.879G>A (p.Val293=) rs1311556193
NM_005257.6(GATA6):c.883G>A (p.Gly295Ser)
NM_005257.6(GATA6):c.883GGC[4] (p.Gly297dup) rs1188366255
NM_005257.6(GATA6):c.886G>T (p.Gly296Cys)
NM_005257.6(GATA6):c.888C>T (p.Gly296=)
NM_005257.6(GATA6):c.889G>A (p.Gly297Ser) rs2033058660
NM_005257.6(GATA6):c.889G>C (p.Gly297Arg)
NM_005257.6(GATA6):c.900G>C (p.Leu300=) rs1060503826
NM_005257.6(GATA6):c.902C>A (p.Ala301Glu) rs2033058989
NM_005257.6(GATA6):c.913G>A (p.Gly305Ser)
NM_005257.6(GATA6):c.916C>T (p.Arg306Cys)
NM_005257.6(GATA6):c.918C>G (p.Arg306=)
NM_005257.6(GATA6):c.91G>A (p.Glu31Lys) rs780160108
NM_005257.6(GATA6):c.91G>C (p.Glu31Gln) rs780160108
NM_005257.6(GATA6):c.923C>A (p.Pro308His)
NM_005257.6(GATA6):c.926A>G (p.Gln309Arg)
NM_005257.6(GATA6):c.929A>C (p.Tyr310Ser)
NM_005257.6(GATA6):c.936G>T (p.Ser312=)
NM_005257.6(GATA6):c.945C>T (p.Ala315=)
NM_005257.6(GATA6):c.946G>C (p.Ala316Pro)
NM_005257.6(GATA6):c.95C>T (p.Pro32Leu)
NM_005257.6(GATA6):c.969CCA[11] (p.His333dup) rs562588574
NM_005257.6(GATA6):c.969CCA[5] (p.His329_His333del)
NM_005257.6(GATA6):c.969CCA[6] (p.His330_His333del) rs562588574
NM_005257.6(GATA6):c.969CCA[7] (p.His331_His333del) rs562588574
NM_005257.6(GATA6):c.969CCA[8] (p.His332_His333del) rs562588574
NM_005257.6(GATA6):c.969CCA[9] (p.His333del) rs562588574
NM_005257.6(GATA6):c.98C>A (p.Ser33Tyr)
NM_005257.6(GATA6):c.991_992insTGG (p.His331delinsLeuAsp)
NM_005257.6(GATA6):c.993C>G (p.His331Gln) rs2143278462
NM_005257.6(GATA6):c.998_1000del (p.His333del) rs763204851
NM_021005.4(NR2F2):c.1000G>C (p.Val334Leu) rs1474147673
NM_021005.4(NR2F2):c.1008C>T (p.Ser336=) rs767004289
NM_021005.4(NR2F2):c.1234G>T (p.Ala412Ser)
NM_021005.4(NR2F2):c.150C>T (p.Ser50=)
NM_021005.4(NR2F2):c.203G>A (p.Ser68Asn)
NM_021005.4(NR2F2):c.204C>G (p.Ser68Arg) rs1381103214
NM_021005.4(NR2F2):c.210G>A (p.Lys70=) rs1899171814
NM_021005.4(NR2F2):c.217C>T (p.Gln73Ter) rs1899172049
NM_021005.4(NR2F2):c.237C>T (p.Cys79=)
NM_021005.4(NR2F2):c.269A>G (p.His90Arg) rs2141166925
NM_021005.4(NR2F2):c.276C>T (p.Gly92=) rs1332151769
NM_021005.4(NR2F2):c.309C>G (p.Phe103Leu) rs1899174214
NM_021005.4(NR2F2):c.36G>A (p.Gln12=) rs2141166624
NM_021005.4(NR2F2):c.414G>A (p.Lys138=) rs1373249033
NM_021005.4(NR2F2):c.456C>T (p.Gly152=)
NM_021005.4(NR2F2):c.468G>T (p.Pro156=) rs746596432
NM_021005.4(NR2F2):c.538G>A (p.Gly180Arg) rs2141169030
NM_021005.4(NR2F2):c.604C>T (p.Gln202Ter) rs2141169116
NM_021005.4(NR2F2):c.616A>C (p.Ile206Leu)
NM_021005.4(NR2F2):c.648C>A (p.Ala216=)
NM_021005.4(NR2F2):c.671T>A (p.Val224Asp) rs1899253390
NM_021005.4(NR2F2):c.682C>T (p.Arg228Trp) rs1899253743
NM_021005.4(NR2F2):c.687C>T (p.Asn229=)
NM_021005.4(NR2F2):c.709C>T (p.Gln237Ter) rs878855066
NM_021005.4(NR2F2):c.819C>T (p.Ala273=)
NM_021005.4(NR2F2):c.879G>A (p.Arg293=)
NM_021005.4(NR2F2):c.948G>T (p.Lys316Asn) rs1899261470
NM_021005.4(NR2F2):c.958C>T (p.Leu320=) rs1596428579
NM_021005.4(NR2F2):c.95C>G (p.Pro32Arg)
NM_021005.4(NR2F2):c.970+12_970+16dup rs563165104

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