| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.11758380del | CA2579823151 | GATA4 | c.1234del (p.Ser412LeufsTer28) c.1237del (p.Ser413LeufsTer28) n.679del c.616del (p.Ser206LeufsTer28) c.1231del (p.Ser411LeufsTer28) c.490del (p.Ser164LeufsTer28) | |
| 8 | g.11758380T>A | CA370315698 | GATA4 | c.1234T>A (p.Ser412Thr) c.1237T>A (p.Ser413Thr) n.679T>A c.616T>A (p.Ser206Thr) c.1231T>A (p.Ser411Thr) c.490T>A (p.Ser164Thr) | |
| 8 | g.11758380T>C | CA370315699 | GATA4 | c.1234T>C (p.Ser412Pro) c.1237T>C (p.Ser413Pro) n.679T>C c.616T>C (p.Ser206Pro) c.1231T>C (p.Ser411Pro) c.490T>C (p.Ser164Pro) | |
| 8 | g.11758380T>G | CA370315700 | GATA4 | c.1234T>G (p.Ser412Ala) c.1237T>G (p.Ser413Ala) n.679T>G c.616T>G (p.Ser206Ala) c.1231T>G (p.Ser411Ala) c.490T>G (p.Ser164Ala) | |
| 8 | g.11758381C>A | CA370315701 | GATA4 | c.1235C>A (p.Ser412Tyr) c.1238C>A (p.Ser413Tyr) n.680C>A c.617C>A (p.Ser206Tyr) c.1232C>A (p.Ser411Tyr) c.491C>A (p.Ser164Tyr) | |
| 8 | g.11758381C= | CA1764074243 | GATA4 | c.1235C= (p.Ser412=) c.1238C= (p.Ser413=) n.680C= c.617C= (p.Ser206=) c.1232C= (p.Ser411=) c.491C= (p.Ser164=) | |
| 8 | g.11758381C>G | CA4630896 | GATA4 | c.1235C>G (p.Ser412Cys) c.1238C>G (p.Ser413Cys) n.680C>G c.617C>G (p.Ser206Cys) c.1232C>G (p.Ser411Cys) c.491C>G (p.Ser164Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.11758381C>T | CA370315702 | GATA4 | c.1235C>T (p.Ser412Phe) c.1238C>T (p.Ser413Phe) n.680C>T c.617C>T (p.Ser206Phe) c.1232C>T (p.Ser411Phe) c.491C>T (p.Ser164Phe) | |
| 8 | g.11758382_11758391del | CA2695208951 | GATA4 | c.1236_1245del (p.Pro413SerfsTer24) c.1239_1248del (p.Pro414SerfsTer24) n.681_690del c.618_627del (p.Pro207SerfsTer24) c.1233_1242del (p.Pro412SerfsTer24) c.492_501del (p.Pro165SerfsTer24) | |
| 8 | g.11758382T>A | CA459314156 | GATA4 | c.1236T>A (p.Ser412=) c.1239T>A (p.Ser413=) n.681T>A c.618T>A (p.Ser206=) c.1233T>A (p.Ser411=) c.492T>A (p.Ser164=) | |
| 8 | g.11758382T>C | CA459314158 | GATA4 | c.1236T>C (p.Ser412=) c.1239T>C (p.Ser413=) n.681T>C c.618T>C (p.Ser206=) c.1233T>C (p.Ser411=) c.492T>C (p.Ser164=) | dbSNP |
| 8 | g.11758382T>G | CA459314160 | GATA4 | c.1236T>G (p.Ser412=) c.1239T>G (p.Ser413=) n.681T>G c.618T>G (p.Ser206=) c.1233T>G (p.Ser411=) c.492T>G (p.Ser164=) | |
| 8 | g.11758382T= | CA1764074247 | GATA4 | c.1236T= (p.Ser412=) c.1239T= (p.Ser413=) n.681T= c.618T= (p.Ser206=) c.1233T= (p.Ser411=) c.492T= (p.Ser164=) | |
| 8 | g.11758383C>A | CA370315703 | GATA4 | c.1237C>A (p.Pro413Thr) c.1240C>A (p.Pro414Thr) n.682C>A c.619C>A (p.Pro207Thr) c.1234C>A (p.Pro412Thr) c.493C>A (p.Pro165Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.11758383C= | CA1764074250 | GATA4 | c.1237C= (p.Pro413=) c.1240C= (p.Pro414=) n.682C= c.619C= (p.Pro207=) c.1234C= (p.Pro412=) c.493C= (p.Pro165=) | |
| 8 | g.11758383C>G | CA370315704 | GATA4 | c.1237C>G (p.Pro413Ala) c.1240C>G (p.Pro414Ala) n.682C>G c.619C>G (p.Pro207Ala) c.1234C>G (p.Pro412Ala) c.493C>G (p.Pro165Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758383C>T | CA370315705 | GATA4 | c.1237C>T (p.Pro413Ser) c.1240C>T (p.Pro414Ser) n.682C>T c.619C>T (p.Pro207Ser) c.1234C>T (p.Pro412Ser) c.493C>T (p.Pro165Ser) | |
| 8 | g.11758384C>A | CA370315706 | GATA4 | c.1238C>A (p.Pro413His) c.1241C>A (p.Pro414His) n.683C>A c.620C>A (p.Pro207His) c.1235C>A (p.Pro412His) c.494C>A (p.Pro165His) | |
| 8 | g.11758384C= | CA1764074255 | GATA4 | c.1238C= (p.Pro413=) c.1241C= (p.Pro414=) n.683C= c.620C= (p.Pro207=) c.1235C= (p.Pro412=) c.494C= (p.Pro165=) | |
| 8 | g.11758384C>G | CA370315707 | GATA4 | c.1238C>G (p.Pro413Arg) c.1241C>G (p.Pro414Arg) n.683C>G c.620C>G (p.Pro207Arg) c.1235C>G (p.Pro412Arg) c.494C>G (p.Pro165Arg) | ClinVar |
| 8 | g.11758384C>T | CA4630897 | GATA4 | c.1238C>T (p.Pro413Leu) c.1241C>T (p.Pro414Leu) n.683C>T c.620C>T (p.Pro207Leu) c.1235C>T (p.Pro412Leu) c.494C>T (p.Pro165Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.11758385C>A | CA459314172 | GATA4 | c.1239C>A (p.Pro413=) c.1242C>A (p.Pro414=) n.684C>A c.621C>A (p.Pro207=) c.1236C>A (p.Pro412=) c.495C>A (p.Pro165=) | COSMIC |
| 8 | g.11758385C= | CA1764074260 | GATA4 | c.1239C= (p.Pro413=) c.1242C= (p.Pro414=) n.684C= c.621C= (p.Pro207=) c.1236C= (p.Pro412=) c.495C= (p.Pro165=) | |
| 8 | g.11758385C>G | CA459314174 | GATA4 | c.1239C>G (p.Pro413=) c.1242C>G (p.Pro414=) n.684C>G c.621C>G (p.Pro207=) c.1236C>G (p.Pro412=) c.495C>G (p.Pro165=) | |
| 8 | g.11758385C>T | CA4630898 | GATA4 | c.1239C>T (p.Pro413=) c.1242C>T (p.Pro414=) n.684C>T c.621C>T (p.Pro207=) c.1236C>T (p.Pro412=) c.495C>T (p.Pro165=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758386G>A | CA172121463 | GATA4 | c.1240G>A (p.Val414Ile) c.1243G>A (p.Val415Ile) n.685G>A c.622G>A (p.Val208Ile) c.1237G>A (p.Val413Ile) c.496G>A (p.Val166Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758386G>C | CA370315709 | GATA4 | c.1240G>C (p.Val414Leu) c.1243G>C (p.Val415Leu) n.685G>C c.622G>C (p.Val208Leu) c.1237G>C (p.Val413Leu) c.496G>C (p.Val166Leu) | ClinVar dbSNP gnomAD v2 |
| 8 | g.11758386G= | CA1764074262 | GATA4 | c.1240G= (p.Val414=) c.1243G= (p.Val415=) n.685G= c.622G= (p.Val208=) c.1237G= (p.Val413=) c.496G= (p.Val166=) | |
| 8 | g.11758386G>T | CA370315708 | GATA4 | c.1240G>T (p.Val414Phe) c.1243G>T (p.Val415Phe) n.685G>T c.622G>T (p.Val208Phe) c.1237G>T (p.Val413Phe) c.496G>T (p.Val166Phe) | gnomAD v4 |
| 8 | g.11758387T>A | CA370315710 | GATA4 | c.1241T>A (p.Val414Asp) c.1244T>A (p.Val415Asp) n.686T>A c.623T>A (p.Val208Asp) c.1238T>A (p.Val413Asp) c.497T>A (p.Val166Asp) | |
| 8 | g.11758387T>C | CA370315711 | GATA4 | c.1241T>C (p.Val414Ala) c.1244T>C (p.Val415Ala) n.686T>C c.623T>C (p.Val208Ala) c.1238T>C (p.Val413Ala) c.497T>C (p.Val166Ala) | dbSNP |
| 8 | g.11758387T>G | CA370315712 | GATA4 | c.1241T>G (p.Val414Gly) c.1244T>G (p.Val415Gly) n.686T>G c.623T>G (p.Val208Gly) c.1238T>G (p.Val413Gly) c.497T>G (p.Val166Gly) | |
| 8 | g.11758387T= | CA1764074265 | GATA4 | c.1241T= (p.Val414=) c.1244T= (p.Val415=) n.686T= c.623T= (p.Val208=) c.1238T= (p.Val413=) c.497T= (p.Val166=) | |
| 8 | g.11758388C>A | CA459314195 | GATA4 | c.1242C>A (p.Val414=) c.1245C>A (p.Val415=) n.687C>A c.624C>A (p.Val208=) c.1239C>A (p.Val413=) c.498C>A (p.Val166=) | |
| 8 | g.11758388C>G | CA459314198 | GATA4 | c.1242C>G (p.Val414=) c.1245C>G (p.Val415=) n.687C>G c.624C>G (p.Val208=) c.1239C>G (p.Val413=) c.498C>G (p.Val166=) | |
| 8 | g.11758388C>T | CA459314194 | GATA4 | c.1242C>T (p.Val414=) c.1245C>T (p.Val415=) n.687C>T c.624C>T (p.Val208=) c.1239C>T (p.Val413=) c.498C>T (p.Val166=) | gnomAD v4 |
| 8 | g.11758389A>C | CA370315713 | GATA4 | c.1243A>C (p.Ser415Arg) c.1246A>C (p.Ser416Arg) n.688A>C c.625A>C (p.Ser209Arg) c.1240A>C (p.Ser414Arg) c.499A>C (p.Ser167Arg) | |
| 8 | g.11758389A>G | CA370315714 | GATA4 | c.1243A>G (p.Ser415Gly) c.1246A>G (p.Ser416Gly) n.688A>G c.625A>G (p.Ser209Gly) c.1240A>G (p.Ser414Gly) c.499A>G (p.Ser167Gly) | |
| 8 | g.11758389A>T | CA370315715 | GATA4 | c.1243A>T (p.Ser415Cys) c.1246A>T (p.Ser416Cys) n.688A>T c.625A>T (p.Ser209Cys) c.1240A>T (p.Ser414Cys) c.499A>T (p.Ser167Cys) | |
| 8 | g.11758390G>A | CA370315716 | GATA4 | c.1244G>A (p.Ser415Asn) c.1247G>A (p.Ser416Asn) n.689G>A c.626G>A (p.Ser209Asn) c.1241G>A (p.Ser414Asn) c.500G>A (p.Ser167Asn) | gnomAD v4 |
| 8 | g.11758390G>C | CA370315717 | GATA4 | c.1244G>C (p.Ser415Thr) c.1247G>C (p.Ser416Thr) n.689G>C c.626G>C (p.Ser209Thr) c.1241G>C (p.Ser414Thr) c.500G>C (p.Ser167Thr) | |
| 8 | g.11758390G>T | CA370315718 | GATA4 | c.1244G>T (p.Ser415Ile) c.1247G>T (p.Ser416Ile) n.689G>T c.626G>T (p.Ser209Ile) c.1241G>T (p.Ser414Ile) c.500G>T (p.Ser167Ile) | gnomAD v4 |
| 8 | g.11758391C>A | CA370315719 | GATA4 | c.1245C>A (p.Ser415Arg) c.1248C>A (p.Ser416Arg) n.690C>A c.627C>A (p.Ser209Arg) c.1242C>A (p.Ser414Arg) c.501C>A (p.Ser167Arg) | |
| 8 | g.11758391C>G | CA370315720 | GATA4 | c.1245C>G (p.Ser415Arg) c.1248C>G (p.Ser416Arg) n.690C>G c.627C>G (p.Ser209Arg) c.1242C>G (p.Ser414Arg) c.501C>G (p.Ser167Arg) | |
| 8 | g.11758391C>T | CA459314216 | GATA4 | c.1245C>T (p.Ser415=) c.1248C>T (p.Ser416=) n.690C>T c.627C>T (p.Ser209=) c.1242C>T (p.Ser414=) c.501C>T (p.Ser167=) | gnomAD v4 |
| 8 | g.11758392C>A | CA370315723 | GATA4 | c.1246C>A (p.Gln416Lys) c.1249C>A (p.Gln417Lys) n.691C>A c.628C>A (p.Gln210Lys) c.1243C>A (p.Gln415Lys) c.502C>A (p.Gln168Lys) | |
| 8 | g.11758392C>G | CA370315722 | GATA4 | c.1246C>G (p.Gln416Glu) c.1249C>G (p.Gln417Glu) n.691C>G c.628C>G (p.Gln210Glu) c.1243C>G (p.Gln415Glu) c.502C>G (p.Gln168Glu) | |
| 8 | g.11758392C>T | CA370315721 | GATA4 | c.1246C>T (p.Gln416Ter) c.1249C>T (p.Gln417Ter) n.691C>T c.628C>T (p.Gln210Ter) c.1243C>T (p.Gln415Ter) c.502C>T (p.Gln168Ter) | dbSNP |
| 8 | g.11758393A= | CA1764074267 | GATA4 | c.1247A= (p.Gln416=) c.1250A= (p.Gln417=) n.692A= c.629A= (p.Gln210=) c.1244A= (p.Gln415=) c.503A= (p.Gln168=) | |
| 8 | g.11758393A>C | CA4630899 | GATA4 | c.1247A>C (p.Gln416Pro) c.1250A>C (p.Gln417Pro) n.692A>C c.629A>C (p.Gln210Pro) c.1244A>C (p.Gln415Pro) c.503A>C (p.Gln168Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758393A>G | CA370315724 | GATA4 | c.1247A>G (p.Gln416Arg) c.1250A>G (p.Gln417Arg) n.692A>G c.629A>G (p.Gln210Arg) c.1244A>G (p.Gln415Arg) c.503A>G (p.Gln168Arg) | |
| 8 | g.11758393A>T | CA370315725 | GATA4 | c.1247A>T (p.Gln416Leu) c.1250A>T (p.Gln417Leu) n.692A>T c.629A>T (p.Gln210Leu) c.1244A>T (p.Gln415Leu) c.503A>T (p.Gln168Leu) | |
| 8 | g.11758394G>A | CA459314231 | GATA4 | c.1248G>A (p.Gln416=) c.1251G>A (p.Gln417=) n.693G>A c.630G>A (p.Gln210=) c.1245G>A (p.Gln415=) c.504G>A (p.Gln168=) | |
| 8 | g.11758394G>C | CA370315726 | GATA4 | c.1248G>C (p.Gln416His) c.1251G>C (p.Gln417His) n.693G>C c.630G>C (p.Gln210His) c.1245G>C (p.Gln415His) c.504G>C (p.Gln168His) | |
| 8 | g.11758394G>T | CA370315727 | GATA4 | c.1248G>T (p.Gln416His) c.1251G>T (p.Gln417His) n.693G>T c.630G>T (p.Gln210His) c.1245G>T (p.Gln415His) c.504G>T (p.Gln168His) | |
| 8 | g.11758395T>A | CA370315728 | GATA4 | c.1249T>A (p.Ser417Thr) c.1252T>A (p.Ser418Thr) n.694T>A c.631T>A (p.Ser211Thr) c.1246T>A (p.Ser416Thr) c.505T>A (p.Ser169Thr) | |
| 8 | g.11758395T>C | CA370315729 | GATA4 | c.1249T>C (p.Ser417Pro) c.1252T>C (p.Ser418Pro) n.694T>C c.631T>C (p.Ser211Pro) c.1246T>C (p.Ser416Pro) c.505T>C (p.Ser169Pro) | |
| 8 | g.11758395T>G | CA370315730 | GATA4 | c.1249T>G (p.Ser417Ala) c.1252T>G (p.Ser418Ala) n.694T>G c.631T>G (p.Ser211Ala) c.1246T>G (p.Ser416Ala) c.505T>G (p.Ser169Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.11758395T= | CA1764074271 | GATA4 | c.1249T= (p.Ser417=) c.1252T= (p.Ser418=) n.694T= c.631T= (p.Ser211=) c.1246T= (p.Ser416=) c.505T= (p.Ser169=) | |
| 8 | g.11758396C>A | CA370315731 | GATA4 | c.1250C>A (p.Ser417Tyr) c.1253C>A (p.Ser418Tyr) n.695C>A c.632C>A (p.Ser211Tyr) c.1247C>A (p.Ser416Tyr) c.506C>A (p.Ser169Tyr) | |
| 8 | g.11758396C>G | CA370315732 | GATA4 | c.1250C>G (p.Ser417Cys) c.1253C>G (p.Ser418Cys) n.695C>G c.632C>G (p.Ser211Cys) c.1247C>G (p.Ser416Cys) c.506C>G (p.Ser169Cys) | gnomAD v4 |
| 8 | g.11758396C>T | CA370315733 | GATA4 | c.1250C>T (p.Ser417Phe) c.1253C>T (p.Ser418Phe) n.695C>T c.632C>T (p.Ser211Phe) c.1247C>T (p.Ser416Phe) c.506C>T (p.Ser169Phe) | |
| 8 | g.11758397T>A | CA459314252 | GATA4 | c.1251T>A (p.Ser417=) c.1254T>A (p.Ser418=) n.696T>A c.633T>A (p.Ser211=) c.1248T>A (p.Ser416=) c.507T>A (p.Ser169=) | gnomAD v4 |
| 8 | g.11758397T>C | CA16612201 | GATA4 | c.1251T>C (p.Ser417=) c.1254T>C (p.Ser418=) n.696T>C c.633T>C (p.Ser211=) c.1248T>C (p.Ser416=) c.507T>C (p.Ser169=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.11758397T>G | CA459314256 | GATA4 | c.1251T>G (p.Ser417=) c.1254T>G (p.Ser418=) n.696T>G c.633T>G (p.Ser211=) c.1248T>G (p.Ser416=) c.507T>G (p.Ser169=) | |
| 8 | g.11758397T= | CA1764074272 | GATA4 | c.1251T= (p.Ser417=) c.1254T= (p.Ser418=) n.696T= c.633T= (p.Ser211=) c.1248T= (p.Ser416=) c.507T= (p.Ser169=) | |
| 8 | g.11758398C>A | CA370315736 | GATA4 | c.1252C>A (p.Pro418Thr) c.1255C>A (p.Pro419Thr) n.697C>A c.634C>A (p.Pro212Thr) c.1249C>A (p.Pro417Thr) c.508C>A (p.Pro170Thr) | gnomAD v4 |
| 8 | g.11758398C>G | CA370315735 | GATA4 | c.1252C>G (p.Pro418Ala) c.1255C>G (p.Pro419Ala) n.697C>G c.634C>G (p.Pro212Ala) c.1249C>G (p.Pro417Ala) c.508C>G (p.Pro170Ala) | |
| 8 | g.11758398C>T | CA370315734 | GATA4 | c.1252C>T (p.Pro418Ser) c.1255C>T (p.Pro419Ser) n.697C>T c.634C>T (p.Pro212Ser) c.1249C>T (p.Pro417Ser) c.508C>T (p.Pro170Ser) | gnomAD v4 |
| 8 | g.11758399C>A | CA370315737 | GATA4 | c.1253C>A (p.Pro418Gln) c.1256C>A (p.Pro419Gln) n.698C>A c.635C>A (p.Pro212Gln) c.1250C>A (p.Pro417Gln) c.509C>A (p.Pro170Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758399C= | CA1764074276 | GATA4 | c.1253C= (p.Pro418=) c.1256C= (p.Pro419=) n.698C= c.635C= (p.Pro212=) c.1250C= (p.Pro417=) c.509C= (p.Pro170=) | |
| 8 | g.11758399C>G | CA370315738 | GATA4 | c.1253C>G (p.Pro418Arg) c.1256C>G (p.Pro419Arg) n.698C>G c.635C>G (p.Pro212Arg) c.1250C>G (p.Pro417Arg) c.509C>G (p.Pro170Arg) | |
| 8 | g.11758399C>T | CA4630900 | GATA4 | c.1253C>T (p.Pro418Leu) c.1256C>T (p.Pro419Leu) n.698C>T c.635C>T (p.Pro212Leu) c.1250C>T (p.Pro417Leu) c.509C>T (p.Pro170Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758400A>C | CA459314277 | GATA4 | c.1254A>C (p.Pro418=) c.1257A>C (p.Pro419=) n.699A>C c.636A>C (p.Pro212=) c.1251A>C (p.Pro417=) c.510A>C (p.Pro170=) | |
| 8 | g.11758400A>G | CA459314278 | GATA4 | c.1254A>G (p.Pro418=) c.1257A>G (p.Pro419=) n.699A>G c.636A>G (p.Pro212=) c.1251A>G (p.Pro417=) c.510A>G (p.Pro170=) | dbSNP |
| 8 | g.11758400A>T | CA459314280 | GATA4 | c.1254A>T (p.Pro418=) c.1257A>T (p.Pro419=) n.699A>T c.636A>T (p.Pro212=) c.1251A>T (p.Pro417=) c.510A>T (p.Pro170=) | |
| 8 | g.11758401C>A | CA370315739 | GATA4 | c.1255C>A (p.Gln419Lys) c.1258C>A (p.Gln420Lys) n.700C>A c.637C>A (p.Gln213Lys) c.1252C>A (p.Gln418Lys) c.511C>A (p.Gln171Lys) | |
| 8 | g.11758401C>G | CA370315740 | GATA4 | c.1255C>G (p.Gln419Glu) c.1258C>G (p.Gln420Glu) n.700C>G c.637C>G (p.Gln213Glu) c.1252C>G (p.Gln418Glu) c.511C>G (p.Gln171Glu) | gnomAD v4 |
| 8 | g.11758401C>T | CA370315741 | GATA4 | c.1255C>T (p.Gln419Ter) c.1258C>T (p.Gln420Ter) n.700C>T c.637C>T (p.Gln213Ter) c.1252C>T (p.Gln418Ter) c.511C>T (p.Gln171Ter) | |
| 8 | g.11758402A>C | CA370315744 | GATA4 | c.1256A>C (p.Gln419Pro) c.1259A>C (p.Gln420Pro) n.701A>C c.638A>C (p.Gln213Pro) c.1253A>C (p.Gln418Pro) c.512A>C (p.Gln171Pro) | |
| 8 | g.11758402A>G | CA370315742 | GATA4 | c.1256A>G (p.Gln419Arg) c.1259A>G (p.Gln420Arg) n.701A>G c.638A>G (p.Gln213Arg) c.1253A>G (p.Gln418Arg) c.512A>G (p.Gln171Arg) | |
| 8 | g.11758402A>T | CA370315743 | GATA4 | c.1256A>T (p.Gln419Leu) c.1259A>T (p.Gln420Leu) n.701A>T c.638A>T (p.Gln213Leu) c.1253A>T (p.Gln418Leu) c.512A>T (p.Gln171Leu) | COSMIC |
| 8 | g.11758403G>A | CA459314299 | GATA4 | c.1257G>A (p.Gln419=) c.1260G>A (p.Gln420=) n.702G>A c.639G>A (p.Gln213=) c.1254G>A (p.Gln418=) c.513G>A (p.Gln171=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.11758403G>C | CA370315745 | GATA4 | c.1257G>C (p.Gln419His) c.1260G>C (p.Gln420His) n.702G>C c.639G>C (p.Gln213His) c.1254G>C (p.Gln418His) c.513G>C (p.Gln171His) | COSMIC |
| 8 | g.11758403G= | CA1764074278 | GATA4 | c.1257G= (p.Gln419=) c.1260G= (p.Gln420=) n.702G= c.639G= (p.Gln213=) c.1254G= (p.Gln418=) c.513G= (p.Gln171=) | |
| 8 | g.11758403G>T | CA370315746 | GATA4 | c.1257G>T (p.Gln419His) c.1260G>T (p.Gln420His) n.702G>T c.639G>T (p.Gln213His) c.1254G>T (p.Gln418His) c.513G>T (p.Gln171His) | |
| 8 | g.11758404A>C | CA370315747 | GATA4 | c.1258A>C (p.Thr420Pro) c.1261A>C (p.Thr421Pro) n.703A>C c.640A>C (p.Thr214Pro) c.1255A>C (p.Thr419Pro) c.514A>C (p.Thr172Pro) | |
| 8 | g.11758404A>G | CA370315748 | GATA4 | c.1258A>G (p.Thr420Ala) c.1261A>G (p.Thr421Ala) n.703A>G c.640A>G (p.Thr214Ala) c.1255A>G (p.Thr419Ala) c.514A>G (p.Thr172Ala) | |
| 8 | g.11758404A>T | CA370315749 | GATA4 | c.1258A>T (p.Thr420Ser) c.1261A>T (p.Thr421Ser) n.703A>T c.640A>T (p.Thr214Ser) c.1255A>T (p.Thr419Ser) c.514A>T (p.Thr172Ser) | |
| 8 | g.11758405C>A | CA4630901 | GATA4 | c.1259C>A (p.Thr420Asn) c.1262C>A (p.Thr421Asn) n.704C>A c.641C>A (p.Thr214Asn) c.1256C>A (p.Thr419Asn) c.515C>A (p.Thr172Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758405C= | CA1764074283 | GATA4 | c.1259C= (p.Thr420=) c.1262C= (p.Thr421=) n.704C= c.641C= (p.Thr214=) c.1256C= (p.Thr419=) c.515C= (p.Thr172=) | |
| 8 | g.11758405C>G | CA370315750 | GATA4 | c.1259C>G (p.Thr420Ser) c.1262C>G (p.Thr421Ser) n.704C>G c.641C>G (p.Thr214Ser) c.1256C>G (p.Thr419Ser) c.515C>G (p.Thr172Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.11758405C>T | CA370315751 | GATA4 | c.1259C>T (p.Thr420Ile) c.1262C>T (p.Thr421Ile) n.704C>T c.641C>T (p.Thr214Ile) c.1256C>T (p.Thr419Ile) c.515C>T (p.Thr172Ile) | gnomAD v4 |
| 8 | g.11758406del | CA2585379422 | GATA4 | c.1260del (p.Ser421AlafsTer19) c.1263del (p.Ser422AlafsTer19) n.705del c.642del (p.Ser215AlafsTer19) c.1257del (p.Ser420AlafsTer19) c.516del (p.Ser173AlafsTer19) | |
| 8 | g.11758406C>A | CA459314312 | GATA4 | c.1260C>A (p.Thr420=) c.1263C>A (p.Thr421=) n.705C>A c.642C>A (p.Thr214=) c.1257C>A (p.Thr419=) c.516C>A (p.Thr172=) | |
| 8 | g.11758406C>G | CA459314315 | GATA4 | c.1260C>G (p.Thr420=) c.1263C>G (p.Thr421=) n.705C>G c.642C>G (p.Thr214=) c.1257C>G (p.Thr419=) c.516C>G (p.Thr172=) | |
| 8 | g.11758406C>T | CA459314317 | GATA4 | c.1260C>T (p.Thr420=) c.1263C>T (p.Thr421=) n.705C>T c.642C>T (p.Thr214=) c.1257C>T (p.Thr419=) c.516C>T (p.Thr172=) | gnomAD v4 |
| 8 | g.11758407A>C | CA370315752 | GATA4 | c.1261A>C (p.Ser421Arg) c.1264A>C (p.Ser422Arg) n.706A>C c.643A>C (p.Ser215Arg) c.1258A>C (p.Ser420Arg) c.517A>C (p.Ser173Arg) | |
| 8 | g.11758407A>G | CA370315753 | GATA4 | c.1261A>G (p.Ser421Gly) c.1264A>G (p.Ser422Gly) n.706A>G c.643A>G (p.Ser215Gly) c.1258A>G (p.Ser420Gly) c.517A>G (p.Ser173Gly) | |
| 8 | g.11758407A>T | CA370315754 | GATA4 | c.1261A>T (p.Ser421Cys) c.1264A>T (p.Ser422Cys) n.706A>T c.643A>T (p.Ser215Cys) c.1258A>T (p.Ser420Cys) c.517A>T (p.Ser173Cys) | |
| 8 | g.11758408G>A | CA370315755 | GATA4 | c.1262G>A (p.Ser421Asn) c.1265G>A (p.Ser422Asn) n.707G>A c.644G>A (p.Ser215Asn) c.1259G>A (p.Ser420Asn) c.518G>A (p.Ser173Asn) | |
| 8 | g.11758408G>C | CA370315756 | GATA4 | c.1262G>C (p.Ser421Thr) c.1265G>C (p.Ser422Thr) n.707G>C c.644G>C (p.Ser215Thr) c.1259G>C (p.Ser420Thr) c.518G>C (p.Ser173Thr) | |
| 8 | g.11758408G>T | CA370315757 | GATA4 | c.1262G>T (p.Ser421Ile) c.1265G>T (p.Ser422Ile) n.707G>T c.644G>T (p.Ser215Ile) c.1259G>T (p.Ser420Ile) c.518G>T (p.Ser173Ile) | |
| 8 | g.11758409C>A | CA370315758 | GATA4 | c.1263C>A (p.Ser421Arg) c.1266C>A (p.Ser422Arg) n.708C>A c.645C>A (p.Ser215Arg) c.1260C>A (p.Ser420Arg) c.519C>A (p.Ser173Arg) | dbSNP |
| 8 | g.11758409C= | CA1764074287 | GATA4 | c.1263C= (p.Ser421=) c.1266C= (p.Ser422=) n.708C= c.645C= (p.Ser215=) c.1260C= (p.Ser420=) c.519C= (p.Ser173=) | |
| 8 | g.11758409C>G | CA370315759 | GATA4 | c.1263C>G (p.Ser421Arg) c.1266C>G (p.Ser422Arg) n.708C>G c.645C>G (p.Ser215Arg) c.1260C>G (p.Ser420Arg) c.519C>G (p.Ser173Arg) | |
| 8 | g.11758409C>T | CA347948 | GATA4 | c.1263C>T (p.Ser421=) c.1266C>T (p.Ser422=) n.708C>T c.645C>T (p.Ser215=) c.1260C>T (p.Ser420=) c.519C>T (p.Ser173=) | ClinVar dbSNP |
| 8 | g.11758410T>A | CA370315760 | GATA4 | c.1264T>A (p.Ser422Thr) c.1267T>A (p.Ser423Thr) n.709T>A c.646T>A (p.Ser216Thr) c.1261T>A (p.Ser421Thr) c.520T>A (p.Ser174Thr) | |
| 8 | g.11758410T>C | CA370315761 | GATA4 | c.1264T>C (p.Ser422Pro) c.1267T>C (p.Ser423Pro) n.709T>C c.646T>C (p.Ser216Pro) c.1261T>C (p.Ser421Pro) c.520T>C (p.Ser174Pro) | |
| 8 | g.11758410T>G | CA370315762 | GATA4 | c.1264T>G (p.Ser422Ala) c.1267T>G (p.Ser423Ala) n.709T>G c.646T>G (p.Ser216Ala) c.1261T>G (p.Ser421Ala) c.520T>G (p.Ser174Ala) | |
| 8 | g.11758411C>A | CA370315763 | GATA4 | c.1265C>A (p.Ser422Tyr) c.1268C>A (p.Ser423Tyr) n.710C>A c.647C>A (p.Ser216Tyr) c.1262C>A (p.Ser421Tyr) c.521C>A (p.Ser174Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.11758411C= | CA1764074294 | GATA4 | c.1265C= (p.Ser422=) c.1268C= (p.Ser423=) n.710C= c.647C= (p.Ser216=) c.1262C= (p.Ser421=) c.521C= (p.Ser174=) | |
| 8 | g.11758411C>G | CA370315765 | GATA4 | c.1265C>G (p.Ser422Cys) c.1268C>G (p.Ser423Cys) n.710C>G c.647C>G (p.Ser216Cys) c.1262C>G (p.Ser421Cys) c.521C>G (p.Ser174Cys) | ClinVar dbSNP |
| 8 | g.11758411C>T | CA370315764 | GATA4 | c.1265C>T (p.Ser422Phe) c.1268C>T (p.Ser423Phe) n.710C>T c.647C>T (p.Ser216Phe) c.1262C>T (p.Ser421Phe) c.521C>T (p.Ser174Phe) | ClinVar dbSNP gnomAD v4 |
| 8 | g.11758412C>A | CA459314348 | GATA4 | c.1266C>A (p.Ser422=) c.1269C>A (p.Ser423=) n.711C>A c.648C>A (p.Ser216=) c.1263C>A (p.Ser421=) c.522C>A (p.Ser174=) | |
| 8 | g.11758412C>G | CA459314351 | GATA4 | c.1266C>G (p.Ser422=) c.1269C>G (p.Ser423=) n.711C>G c.648C>G (p.Ser216=) c.1263C>G (p.Ser421=) c.522C>G (p.Ser174=) | |
| 8 | g.11758412C>T | CA459314354 | GATA4 | c.1266C>T (p.Ser422=) c.1269C>T (p.Ser423=) n.711C>T c.648C>T (p.Ser216=) c.1263C>T (p.Ser421=) c.522C>T (p.Ser174=) | |
| 8 | g.11758413A>C | CA370315766 | GATA4 | c.1267A>C (p.Lys423Gln) c.1270A>C (p.Lys424Gln) n.712A>C c.649A>C (p.Lys217Gln) c.1264A>C (p.Lys422Gln) c.523A>C (p.Lys175Gln) | |
| 8 | g.11758413A>G | CA370315767 | GATA4 | c.1267A>G (p.Lys423Glu) c.1270A>G (p.Lys424Glu) n.712A>G c.649A>G (p.Lys217Glu) c.1264A>G (p.Lys422Glu) c.523A>G (p.Lys175Glu) | gnomAD v4 |
| 8 | g.11758413A>T | CA370315768 | GATA4 | c.1267A>T (p.Lys423Ter) c.1270A>T (p.Lys424Ter) n.712A>T c.649A>T (p.Lys217Ter) c.1264A>T (p.Lys422Ter) c.523A>T (p.Lys175Ter) | |
| 8 | g.11758414A>C | CA370315769 | GATA4 | c.1268A>C (p.Lys423Thr) c.1271A>C (p.Lys424Thr) n.713A>C c.650A>C (p.Lys217Thr) c.1265A>C (p.Lys422Thr) c.524A>C (p.Lys175Thr) | |
| 8 | g.11758414A>G | CA370315770 | GATA4 | c.1268A>G (p.Lys423Arg) c.1271A>G (p.Lys424Arg) n.713A>G c.650A>G (p.Lys217Arg) c.1265A>G (p.Lys422Arg) c.524A>G (p.Lys175Arg) | gnomAD v4 |
| 8 | g.11758414A>T | CA370315771 | GATA4 | c.1268A>T (p.Lys423Met) c.1271A>T (p.Lys424Met) n.713A>T c.650A>T (p.Lys217Met) c.1265A>T (p.Lys422Met) c.524A>T (p.Lys175Met) | gnomAD v4 |
| 8 | g.11758415G>A | CA459314367 | GATA4 | c.1269G>A (p.Lys423=) c.1272G>A (p.Lys424=) n.714G>A c.651G>A (p.Lys217=) c.1266G>A (p.Lys422=) c.525G>A (p.Lys175=) | |
| 8 | g.11758415G>C | CA370315772 | GATA4 | c.1269G>C (p.Lys423Asn) c.1272G>C (p.Lys424Asn) n.714G>C c.651G>C (p.Lys217Asn) c.1266G>C (p.Lys422Asn) c.525G>C (p.Lys175Asn) | |
| 8 | g.11758415G>T | CA370315773 | GATA4 | c.1269G>T (p.Lys423Asn) c.1272G>T (p.Lys424Asn) n.714G>T c.651G>T (p.Lys217Asn) c.1266G>T (p.Lys422Asn) c.525G>T (p.Lys175Asn) | |
| 8 | g.11758416C>A | CA370315774 | GATA4 | c.1270C>A (p.Gln424Lys) c.1273C>A (p.Gln425Lys) n.715C>A c.652C>A (p.Gln218Lys) c.1267C>A (p.Gln423Lys) c.526C>A (p.Gln176Lys) | |
| 8 | g.11758416C= | CA1764074300 | GATA4 | c.1270C= (p.Gln424=) c.1273C= (p.Gln425=) n.715C= c.652C= (p.Gln218=) c.1267C= (p.Gln423=) c.526C= (p.Gln176=) | |
| 8 | g.11758416C>G | CA370315775 | GATA4 | c.1270C>G (p.Gln424Glu) c.1273C>G (p.Gln425Glu) n.715C>G c.652C>G (p.Gln218Glu) c.1267C>G (p.Gln423Glu) c.526C>G (p.Gln176Glu) | |
| 8 | g.11758416C>T | CA370315776 | GATA4 | c.1270C>T (p.Gln424Ter) c.1273C>T (p.Gln425Ter) n.715C>T c.652C>T (p.Gln218Ter) c.1267C>T (p.Gln423Ter) c.526C>T (p.Gln176Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.11758417A>C | CA370315779 | GATA4 | c.1271A>C (p.Gln424Pro) c.1274A>C (p.Gln425Pro) n.716A>C c.653A>C (p.Gln218Pro) c.1268A>C (p.Gln423Pro) c.527A>C (p.Gln176Pro) | |
| 8 | g.11758417A>G | CA370315778 | GATA4 | c.1271A>G (p.Gln424Arg) c.1274A>G (p.Gln425Arg) n.716A>G c.653A>G (p.Gln218Arg) c.1268A>G (p.Gln423Arg) c.527A>G (p.Gln176Arg) | |
| 8 | g.11758417A>T | CA370315777 | GATA4 | c.1271A>T (p.Gln424Leu) c.1274A>T (p.Gln425Leu) n.716A>T c.653A>T (p.Gln218Leu) c.1268A>T (p.Gln423Leu) c.527A>T (p.Gln176Leu) | |
| 8 | g.11758418G>A | CA459314378 | GATA4 | c.1272G>A (p.Gln424=) c.1275G>A (p.Gln425=) n.717G>A c.654G>A (p.Gln218=) c.1269G>A (p.Gln423=) c.528G>A (p.Gln176=) | |
| 8 | g.11758418G>C | CA370315780 | GATA4 | c.1272G>C (p.Gln424His) c.1275G>C (p.Gln425His) n.717G>C c.654G>C (p.Gln218His) c.1269G>C (p.Gln423His) c.528G>C (p.Gln176His) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.11758418G= | CA1764074303 | GATA4 | c.1272G= (p.Gln424=) c.1275G= (p.Gln425=) n.717G= c.654G= (p.Gln218=) c.1269G= (p.Gln423=) c.528G= (p.Gln176=) | |
| 8 | g.11758418G>T | CA370315781 | GATA4 | c.1272G>T (p.Gln424His) c.1275G>T (p.Gln425His) n.717G>T c.654G>T (p.Gln218His) c.1269G>T (p.Gln423His) c.528G>T (p.Gln176His) | |
| 8 | g.11758419G>A | CA204708 | GATA4 | c.1273G>A (p.Asp425Asn) c.1276G>A (p.Asp426Asn) n.718G>A c.655G>A (p.Asp219Asn) c.1270G>A (p.Asp424Asn) c.529G>A (p.Asp177Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.11758419G>C | CA370315782 | GATA4 | c.1273G>C (p.Asp425His) c.1276G>C (p.Asp426His) n.718G>C c.655G>C (p.Asp219His) c.1270G>C (p.Asp424His) c.529G>C (p.Asp177His) | |
| 8 | g.11758419G= | CA1764074306 | GATA4 | c.1273G= (p.Asp425=) c.1276G= (p.Asp426=) n.718G= c.655G= (p.Asp219=) c.1270G= (p.Asp424=) c.529G= (p.Asp177=) | |
| 8 | g.11758419G>T | CA172121496 | GATA4 | c.1273G>T (p.Asp425Tyr) c.1276G>T (p.Asp426Tyr) n.718G>T c.655G>T (p.Asp219Tyr) c.1270G>T (p.Asp424Tyr) c.529G>T (p.Asp177Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.11758420A>C | CA370315783 | GATA4 | c.1274A>C (p.Asp425Ala) c.1277A>C (p.Asp426Ala) n.719A>C c.656A>C (p.Asp219Ala) c.1271A>C (p.Asp424Ala) c.530A>C (p.Asp177Ala) | |
| 8 | g.11758420A>G | CA370315784 | GATA4 | c.1274A>G (p.Asp425Gly) c.1277A>G (p.Asp426Gly) n.719A>G c.656A>G (p.Asp219Gly) c.1271A>G (p.Asp424Gly) c.530A>G (p.Asp177Gly) | gnomAD v4 |
| 8 | g.11758420A>T | CA370315785 | GATA4 | c.1274A>T (p.Asp425Val) c.1277A>T (p.Asp426Val) n.719A>T c.656A>T (p.Asp219Val) c.1271A>T (p.Asp424Val) c.530A>T (p.Asp177Val) | |
| 8 | g.11758421C>A | CA370315786 | GATA4 | c.1275C>A (p.Asp425Glu) c.1278C>A (p.Asp426Glu) n.720C>A c.657C>A (p.Asp219Glu) c.1272C>A (p.Asp424Glu) c.531C>A (p.Asp177Glu) | |
| 8 | g.11758421C= | CA1764074310 | GATA4 | c.1275C= (p.Asp425=) c.1278C= (p.Asp426=) n.720C= c.657C= (p.Asp219=) c.1272C= (p.Asp424=) c.531C= (p.Asp177=) | |
| 8 | g.11758421C>G | CA370315787 | GATA4 | c.1275C>G (p.Asp425Glu) c.1278C>G (p.Asp426Glu) n.720C>G c.657C>G (p.Asp219Glu) c.1272C>G (p.Asp424Glu) c.531C>G (p.Asp177Glu) | |
| 8 | g.11758421C>T | CA459314390 | GATA4 | c.1275C>T (p.Asp425=) c.1278C>T (p.Asp426=) n.720C>T c.657C>T (p.Asp219=) c.1272C>T (p.Asp424=) c.531C>T (p.Asp177=) | dbSNP |
| 8 | g.11758422T>A | CA370315788 | GATA4 | c.1276T>A (p.Ser426Thr) c.1279T>A (p.Ser427Thr) n.721T>A c.658T>A (p.Ser220Thr) c.1273T>A (p.Ser425Thr) c.532T>A (p.Ser178Thr) | |
| 8 | g.11758422T>C | CA370315789 | GATA4 | c.1276T>C (p.Ser426Pro) c.1279T>C (p.Ser427Pro) n.721T>C c.658T>C (p.Ser220Pro) c.1273T>C (p.Ser425Pro) c.532T>C (p.Ser178Pro) | |
| 8 | g.11758422T>G | CA370315790 | GATA4 | c.1276T>G (p.Ser426Ala) c.1279T>G (p.Ser427Ala) n.721T>G c.658T>G (p.Ser220Ala) c.1273T>G (p.Ser425Ala) c.532T>G (p.Ser178Ala) | |
| 8 | g.11758423C>A | CA370315792 | GATA4 | c.1277C>A (p.Ser426Tyr) c.1280C>A (p.Ser427Tyr) n.722C>A c.659C>A (p.Ser220Tyr) c.1274C>A (p.Ser425Tyr) c.533C>A (p.Ser178Tyr) | |
| 8 | g.11758423C>G | CA370315793 | GATA4 | c.1277C>G (p.Ser426Cys) c.1280C>G (p.Ser427Cys) n.722C>G c.659C>G (p.Ser220Cys) c.1274C>G (p.Ser425Cys) c.533C>G (p.Ser178Cys) | |
| 8 | g.11758423C>T | CA370315791 | GATA4 | c.1277C>T (p.Ser426Phe) c.1280C>T (p.Ser427Phe) n.722C>T c.659C>T (p.Ser220Phe) c.1274C>T (p.Ser425Phe) c.533C>T (p.Ser178Phe) | |
| 8 | g.11758424T>A | CA459314399 | GATA4 | c.1278T>A (p.Ser426=) c.1281T>A (p.Ser427=) n.723T>A c.660T>A (p.Ser220=) c.1275T>A (p.Ser425=) c.534T>A (p.Ser178=) | |
| 8 | g.11758424T>C | CA459314400 | GATA4 | c.1278T>C (p.Ser426=) c.1281T>C (p.Ser427=) n.723T>C c.660T>C (p.Ser220=) c.1275T>C (p.Ser425=) c.534T>C (p.Ser178=) | dbSNP gnomAD v4 |
| 8 | g.11758424T>G | CA459314402 | GATA4 | c.1278T>G (p.Ser426=) c.1281T>G (p.Ser427=) n.723T>G c.660T>G (p.Ser220=) c.1275T>G (p.Ser425=) c.534T>G (p.Ser178=) | |
| 8 | g.11758424T= | CA1764074312 | GATA4 | c.1278T= (p.Ser426=) c.1281T= (p.Ser427=) n.723T= c.660T= (p.Ser220=) c.1275T= (p.Ser425=) c.534T= (p.Ser178=) | |
| 8 | g.11758425T>A | CA370315795 | GATA4 | c.1279T>A (p.Trp427Arg) c.1282T>A (p.Trp428Arg) n.724T>A c.661T>A (p.Trp221Arg) c.1276T>A (p.Trp426Arg) c.535T>A (p.Trp179Arg) | |
| 8 | g.11758425T>C | CA370315794 | GATA4 | c.1279T>C (p.Trp427Arg) c.1282T>C (p.Trp428Arg) n.724T>C c.661T>C (p.Trp221Arg) c.1276T>C (p.Trp426Arg) c.535T>C (p.Trp179Arg) | |
| 8 | g.11758425T>G | CA370315796 | GATA4 | c.1279T>G (p.Trp427Gly) c.1282T>G (p.Trp428Gly) n.724T>G c.661T>G (p.Trp221Gly) c.1276T>G (p.Trp426Gly) c.535T>G (p.Trp179Gly) | |
| 8 | g.11758426G>A | CA370315797 | GATA4 | c.1280G>A (p.Trp427Ter) c.1283G>A (p.Trp428Ter) n.725G>A c.662G>A (p.Trp221Ter) c.1277G>A (p.Trp426Ter) c.536G>A (p.Trp179Ter) | gnomAD v4 COSMIC |
| 8 | g.11758426G>C | CA370315798 | GATA4 | c.1280G>C (p.Trp427Ser) c.1283G>C (p.Trp428Ser) n.725G>C c.662G>C (p.Trp221Ser) c.1277G>C (p.Trp426Ser) c.536G>C (p.Trp179Ser) | |
| 8 | g.11758426G>T | CA370315799 | GATA4 | c.1280G>T (p.Trp427Leu) c.1283G>T (p.Trp428Leu) n.725G>T c.662G>T (p.Trp221Leu) c.1277G>T (p.Trp426Leu) c.536G>T (p.Trp179Leu) | |
| 8 | g.11758427G>A | CA370315800 | GATA4 | c.1281G>A (p.Trp427Ter) c.1284G>A (p.Trp428Ter) n.726G>A c.663G>A (p.Trp221Ter) c.1278G>A (p.Trp426Ter) c.537G>A (p.Trp179Ter) | dbSNP |
| 8 | g.11758427G>C | CA370315801 | GATA4 | c.1281G>C (p.Trp427Cys) c.1284G>C (p.Trp428Cys) n.726G>C c.663G>C (p.Trp221Cys) c.1278G>C (p.Trp426Cys) c.537G>C (p.Trp179Cys) | |
| 8 | g.11758427G= | CA1764074315 | GATA4 | c.1281G= (p.Trp427=) c.1284G= (p.Trp428=) n.726G= c.663G= (p.Trp221=) c.1278G= (p.Trp426=) c.537G= (p.Trp179=) | |
| 8 | g.11758427G>T | CA370315802 | GATA4 | c.1281G>T (p.Trp427Cys) c.1284G>T (p.Trp428Cys) n.726G>T c.663G>T (p.Trp221Cys) c.1278G>T (p.Trp426Cys) c.537G>T (p.Trp179Cys) | |
| 8 | g.11758428A= | CA1764074321 | GATA4 | c.1282A= (p.Asn428=) c.1285A= (p.Asn429=) n.727A= c.664A= (p.Asn222=) c.1279A= (p.Asn427=) c.538A= (p.Asn180=) | |
| 8 | g.11758428A>C | CA370315803 | GATA4 | c.1282A>C (p.Asn428His) c.1285A>C (p.Asn429His) n.727A>C c.664A>C (p.Asn222His) c.1279A>C (p.Asn427His) c.538A>C (p.Asn180His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758428A>G | CA370315804 | GATA4 | c.1282A>G (p.Asn428Asp) c.1285A>G (p.Asn429Asp) n.727A>G c.664A>G (p.Asn222Asp) c.1279A>G (p.Asn427Asp) c.538A>G (p.Asn180Asp) | |
| 8 | g.11758428A>T | CA370315805 | GATA4 | c.1282A>T (p.Asn428Tyr) c.1285A>T (p.Asn429Tyr) n.727A>T c.664A>T (p.Asn222Tyr) c.1279A>T (p.Asn427Tyr) c.538A>T (p.Asn180Tyr) | |
| 8 | g.11758429A= | CA1764074327 | GATA4 | c.1283A= (p.Asn428=) c.1286A= (p.Asn429=) n.728A= c.665A= (p.Asn222=) c.1280A= (p.Asn427=) c.539A= (p.Asn180=) | |
| 8 | g.11758429A>C | CA172121516 | GATA4 | c.1283A>C (p.Asn428Thr) c.1286A>C (p.Asn429Thr) n.728A>C c.665A>C (p.Asn222Thr) c.1280A>C (p.Asn427Thr) c.539A>C (p.Asn180Thr) | dbSNP |
| 8 | g.11758429A>G | CA370315806 | GATA4 | c.1283A>G (p.Asn428Ser) c.1286A>G (p.Asn429Ser) n.728A>G c.665A>G (p.Asn222Ser) c.1280A>G (p.Asn427Ser) c.539A>G (p.Asn180Ser) | ClinVar dbSNP |
| 8 | g.11758429A>T | CA370315807 | GATA4 | c.1283A>T (p.Asn428Ile) c.1286A>T (p.Asn429Ile) n.728A>T c.665A>T (p.Asn222Ile) c.1280A>T (p.Asn427Ile) c.539A>T (p.Asn180Ile) | |
| 8 | g.11758430C>A | CA370315808 | GATA4 | c.1284C>A (p.Asn428Lys) c.1287C>A (p.Asn429Lys) n.729C>A c.666C>A (p.Asn222Lys) c.1281C>A (p.Asn427Lys) c.540C>A (p.Asn180Lys) | |
| 8 | g.11758430C>G | CA370315809 | GATA4 | c.1284C>G (p.Asn428Lys) c.1287C>G (p.Asn429Lys) n.729C>G c.666C>G (p.Asn222Lys) c.1281C>G (p.Asn427Lys) c.540C>G (p.Asn180Lys) | |
| 8 | g.11758430C>T | CA459314427 | GATA4 | c.1284C>T (p.Asn428=) c.1287C>T (p.Asn429=) n.729C>T c.666C>T (p.Asn222=) c.1281C>T (p.Asn427=) c.540C>T (p.Asn180=) | gnomAD v4 |
| 8 | g.11758431A= | CA1764074331 | GATA4 | c.1285A= (p.Ser429=) c.1288A= (p.Ser430=) n.730A= c.667A= (p.Ser223=) c.1282A= (p.Ser428=) c.541A= (p.Ser181=) | |
| 8 | g.11758431A>C | CA370315810 | GATA4 | c.1285A>C (p.Ser429Arg) c.1288A>C (p.Ser430Arg) n.730A>C c.667A>C (p.Ser223Arg) c.1282A>C (p.Ser428Arg) c.541A>C (p.Ser181Arg) | |
| 8 | g.11758431A>G | CA4630902 | GATA4 | c.1285A>G (p.Ser429Gly) c.1288A>G (p.Ser430Gly) n.730A>G c.667A>G (p.Ser223Gly) c.1282A>G (p.Ser428Gly) c.541A>G (p.Ser181Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.11758431A>T | CA370315811 | GATA4 | c.1285A>T (p.Ser429Cys) c.1288A>T (p.Ser430Cys) n.730A>T c.667A>T (p.Ser223Cys) c.1282A>T (p.Ser428Cys) c.541A>T (p.Ser181Cys) | |
| 8 | g.11758432G>A | CA370315812 | GATA4 | c.1286G>A (p.Ser429Asn) c.1289G>A (p.Ser430Asn) n.731G>A c.668G>A (p.Ser223Asn) c.1283G>A (p.Ser428Asn) c.542G>A (p.Ser181Asn) | ClinVar |
| 8 | g.11758432G>C | CA370315813 | GATA4 | c.1286G>C (p.Ser429Thr) c.1289G>C (p.Ser430Thr) n.731G>C c.668G>C (p.Ser223Thr) c.1283G>C (p.Ser428Thr) c.542G>C (p.Ser181Thr) | gnomAD v4 |
| 8 | g.11758432G>T | CA370315814 | GATA4 | c.1286G>T (p.Ser429Ile) c.1289G>T (p.Ser430Ile) n.731G>T c.668G>T (p.Ser223Ile) c.1283G>T (p.Ser428Ile) c.542G>T (p.Ser181Ile) | |
| 8 | g.11758433C>A | CA4630903 | GATA4 | c.1287C>A (p.Ser429Arg) c.1290C>A (p.Ser430Arg) n.732C>A c.669C>A (p.Ser223Arg) c.1284C>A (p.Ser428Arg) c.543C>A (p.Ser181Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.11758433C= | CA1764074335 | GATA4 | c.1287C= (p.Ser429=) c.1290C= (p.Ser430=) n.732C= c.669C= (p.Ser223=) c.1284C= (p.Ser428=) c.543C= (p.Ser181=) | |
| 8 | g.11758433C>G | CA370315815 | GATA4 | c.1287C>G (p.Ser429Arg) c.1290C>G (p.Ser430Arg) n.732C>G c.669C>G (p.Ser223Arg) c.1284C>G (p.Ser428Arg) c.543C>G (p.Ser181Arg) | dbSNP gnomAD v4 |
| 8 | g.11758433C>T | CA172121521 | GATA4 | c.1287C>T (p.Ser429=) c.1290C>T (p.Ser430=) n.732C>T c.669C>T (p.Ser223=) c.1284C>T (p.Ser428=) c.543C>T (p.Ser181=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.11758434C>A | CA370315816 | GATA4 | c.1288C>A (p.Leu430Met) c.1291C>A (p.Leu431Met) n.733C>A c.670C>A (p.Leu224Met) c.1285C>A (p.Leu429Met) c.544C>A (p.Leu182Met) | |
| 8 | g.11758434C>G | CA370315817 | GATA4 | c.1288C>G (p.Leu430Val) c.1291C>G (p.Leu431Val) n.733C>G c.670C>G (p.Leu224Val) c.1285C>G (p.Leu429Val) c.544C>G (p.Leu182Val) | |
| 8 | g.11758434C>T | CA459314449 | GATA4 | c.1288C>T (p.Leu430=) c.1291C>T (p.Leu431=) n.733C>T c.670C>T (p.Leu224=) c.1285C>T (p.Leu429=) c.544C>T (p.Leu182=) | gnomAD v4 |
| 8 | g.11758435T>A | CA370315819 | GATA4 | c.1289T>A (p.Leu430Gln) c.1292T>A (p.Leu431Gln) n.734T>A c.671T>A (p.Leu224Gln) c.1286T>A (p.Leu429Gln) c.545T>A (p.Leu182Gln) | |
| 8 | g.11758435T>C | CA370315820 | GATA4 | c.1289T>C (p.Leu430Pro) c.1292T>C (p.Leu431Pro) n.734T>C c.671T>C (p.Leu224Pro) c.1286T>C (p.Leu429Pro) c.545T>C (p.Leu182Pro) | gnomAD v4 |
| 8 | g.11758435T>G | CA370315818 | GATA4 | c.1289T>G (p.Leu430Arg) c.1292T>G (p.Leu431Arg) n.734T>G c.671T>G (p.Leu224Arg) c.1286T>G (p.Leu429Arg) c.545T>G (p.Leu182Arg) | |
| 8 | g.11758436G>A | CA459314457 | GATA4 | c.1290G>A (p.Leu430=) c.1293G>A (p.Leu431=) n.735G>A c.672G>A (p.Leu224=) c.1287G>A (p.Leu429=) c.546G>A (p.Leu182=) | |
| 8 | g.11758436G>C | CA459314459 | GATA4 | c.1290G>C (p.Leu430=) c.1293G>C (p.Leu431=) n.735G>C c.672G>C (p.Leu224=) c.1287G>C (p.Leu429=) c.546G>C (p.Leu182=) | |
| 8 | g.11758436G>T | CA459314460 | GATA4 | c.1290G>T (p.Leu430=) c.1293G>T (p.Leu431=) n.735G>T c.672G>T (p.Leu224=) c.1287G>T (p.Leu429=) c.546G>T (p.Leu182=) | |
| 8 | g.11758437G>A | CA370315821 | GATA4 | c.1291G>A (p.Val431Ile) c.1294G>A (p.Val432Ile) n.736G>A c.673G>A (p.Val225Ile) c.1288G>A (p.Val430Ile) c.547G>A (p.Val183Ile) | |
| 8 | g.11758437G>C | CA4630904 | GATA4 | c.1291G>C (p.Val431Leu) c.1294G>C (p.Val432Leu) n.736G>C c.673G>C (p.Val225Leu) c.1288G>C (p.Val430Leu) c.547G>C (p.Val183Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758437G= | CA1764074340 | GATA4 | c.1291G= (p.Val431=) c.1294G= (p.Val432=) n.736G= c.673G= (p.Val225=) c.1288G= (p.Val430=) c.547G= (p.Val183=) | |
| 8 | g.11758437G>T | CA370315822 | GATA4 | c.1291G>T (p.Val431Phe) c.1294G>T (p.Val432Phe) n.736G>T c.673G>T (p.Val225Phe) c.1288G>T (p.Val430Phe) c.547G>T (p.Val183Phe) | |
| 8 | g.11758438T>A | CA370315823 | GATA4 | c.1292T>A (p.Val431Asp) c.1295T>A (p.Val432Asp) n.737T>A c.674T>A (p.Val225Asp) c.1289T>A (p.Val430Asp) c.548T>A (p.Val183Asp) | |
| 8 | g.11758438T>C | CA370315824 | GATA4 | c.1292T>C (p.Val431Ala) c.1295T>C (p.Val432Ala) n.737T>C c.674T>C (p.Val225Ala) c.1289T>C (p.Val430Ala) c.548T>C (p.Val183Ala) | |
| 8 | g.11758438T>G | CA4630905 | GATA4 | c.1292T>G (p.Val431Gly) c.1295T>G (p.Val432Gly) n.737T>G c.674T>G (p.Val225Gly) c.1289T>G (p.Val430Gly) c.548T>G (p.Val183Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758438T= | CA1764074343 | GATA4 | c.1292T= (p.Val431=) c.1295T= (p.Val432=) n.737T= c.674T= (p.Val225=) c.1289T= (p.Val430=) c.548T= (p.Val183=) | |
| 8 | g.11758439C>A | CA459314476 | GATA4 | c.1293C>A (p.Val431=) c.1296C>A (p.Val432=) n.738C>A c.675C>A (p.Val225=) c.1290C>A (p.Val430=) c.549C>A (p.Val183=) | COSMIC |
| 8 | g.11758439C= | CA1764074348 | GATA4 | c.1293C= (p.Val431=) c.1296C= (p.Val432=) n.738C= c.675C= (p.Val225=) c.1290C= (p.Val430=) c.549C= (p.Val183=) | |
| 8 | g.11758439C>G | CA4630906 | GATA4 | c.1293C>G (p.Val431=) c.1296C>G (p.Val432=) n.738C>G c.675C>G (p.Val225=) c.1290C>G (p.Val430=) c.549C>G (p.Val183=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758439C>T | CA4630907 | GATA4 | c.1293C>T (p.Val431=) c.1296C>T (p.Val432=) n.738C>T c.675C>T (p.Val225=) c.1290C>T (p.Val430=) c.549C>T (p.Val183=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 8 | g.11758440T>A | CA370315825 | GATA4 | c.1294T>A (p.Leu432Met) c.1297T>A (p.Leu433Met) n.739T>A c.676T>A (p.Leu226Met) c.1291T>A (p.Leu431Met) c.550T>A (p.Leu184Met) | |
| 8 | g.11758440T>C | CA459314484 | GATA4 | c.1294T>C (p.Leu432=) c.1297T>C (p.Leu433=) n.739T>C c.676T>C (p.Leu226=) c.1291T>C (p.Leu431=) c.550T>C (p.Leu184=) | dbSNP |
| 8 | g.11758440T>G | CA370315826 | GATA4 | c.1294T>G (p.Leu432Val) c.1297T>G (p.Leu433Val) n.739T>G c.676T>G (p.Leu226Val) c.1291T>G (p.Leu431Val) c.550T>G (p.Leu184Val) | |
| 8 | g.11758440T= | CA1764074349 | GATA4 | c.1294T= (p.Leu432=) c.1297T= (p.Leu433=) n.739T= c.676T= (p.Leu226=) c.1291T= (p.Leu431=) c.550T= (p.Leu184=) | |
| 8 | g.11758441T>A | CA370315827 | GATA4 | c.1295T>A (p.Leu432Ter) c.1298T>A (p.Leu433Ter) n.740T>A c.677T>A (p.Leu226Ter) c.1292T>A (p.Leu431Ter) c.551T>A (p.Leu184Ter) | |
| 8 | g.11758441T>C | CA370315828 | GATA4 | c.1295T>C (p.Leu432Ser) c.1298T>C (p.Leu433Ser) n.740T>C c.677T>C (p.Leu226Ser) c.1292T>C (p.Leu431Ser) c.551T>C (p.Leu184Ser) | |
| 8 | g.11758441T>G | CA370315829 | GATA4 | c.1295T>G (p.Leu432Trp) c.1298T>G (p.Leu433Trp) n.740T>G c.677T>G (p.Leu226Trp) c.1292T>G (p.Leu431Trp) c.551T>G (p.Leu184Trp) | |
| 8 | g.11758442G>A | CA459314495 | GATA4 | c.1296G>A (p.Leu432=) c.1299G>A (p.Leu433=) n.741G>A c.678G>A (p.Leu226=) c.1293G>A (p.Leu431=) c.552G>A (p.Leu184=) | |
| 8 | g.11758442G>C | CA370315831 | GATA4 | c.1296G>C (p.Leu432Phe) c.1299G>C (p.Leu433Phe) n.741G>C c.678G>C (p.Leu226Phe) c.1293G>C (p.Leu431Phe) c.552G>C (p.Leu184Phe) | |
| 8 | g.11758442G>T | CA370315830 | GATA4 | c.1296G>T (p.Leu432Phe) c.1299G>T (p.Leu433Phe) n.741G>T c.678G>T (p.Leu226Phe) c.1293G>T (p.Leu431Phe) c.552G>T (p.Leu184Phe) | |
| 8 | g.11758443G>A | CA370315832 | GATA4 | c.1297G>A (p.Ala433Thr) c.1300G>A (p.Ala434Thr) n.742G>A c.679G>A (p.Ala227Thr) c.1294G>A (p.Ala432Thr) c.553G>A (p.Ala185Thr) | gnomAD v4 |
| 8 | g.11758443G>C | CA370315833 | GATA4 | c.1297G>C (p.Ala433Pro) c.1300G>C (p.Ala434Pro) n.742G>C c.679G>C (p.Ala227Pro) c.1294G>C (p.Ala432Pro) c.553G>C (p.Ala185Pro) | |
| 8 | g.11758443G>T | CA370315834 | GATA4 | c.1297G>T (p.Ala433Ser) c.1300G>T (p.Ala434Ser) n.742G>T c.679G>T (p.Ala227Ser) c.1294G>T (p.Ala432Ser) c.553G>T (p.Ala185Ser) | |
| 8 | g.11758444C>A | CA370315835 | GATA4 | c.1298C>A (p.Ala433Asp) c.1301C>A (p.Ala434Asp) n.743C>A c.680C>A (p.Ala227Asp) c.1295C>A (p.Ala432Asp) c.554C>A (p.Ala185Asp) | |
| 8 | g.11758444C= | CA1764074353 | GATA4 | c.1298C= (p.Ala433=) c.1301C= (p.Ala434=) n.743C= c.680C= (p.Ala227=) c.1295C= (p.Ala432=) c.554C= (p.Ala185=) | |
| 8 | g.11758444C>G | CA370315836 | GATA4 | c.1298C>G (p.Ala433Gly) c.1301C>G (p.Ala434Gly) n.743C>G c.680C>G (p.Ala227Gly) c.1295C>G (p.Ala432Gly) c.554C>G (p.Ala185Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.11758444C>T | CA370315837 | GATA4 | c.1298C>T (p.Ala433Val) c.1301C>T (p.Ala434Val) n.743C>T c.680C>T (p.Ala227Val) c.1295C>T (p.Ala432Val) c.554C>T (p.Ala185Val) | |
| 8 | g.11758445C>A | CA459314505 | GATA4 | c.1299C>A (p.Ala433=) c.1302C>A (p.Ala434=) n.744C>A c.681C>A (p.Ala227=) c.1296C>A (p.Ala432=) c.555C>A (p.Ala185=) | |
| 8 | g.11758445C= | CA1764074356 | GATA4 | c.1299C= (p.Ala433=) c.1302C= (p.Ala434=) n.744C= c.681C= (p.Ala227=) c.1296C= (p.Ala432=) c.555C= (p.Ala185=) | |
| 8 | g.11758445C>G | CA459314506 | GATA4 | c.1299C>G (p.Ala433=) c.1302C>G (p.Ala434=) n.744C>G c.681C>G (p.Ala227=) c.1296C>G (p.Ala432=) c.555C>G (p.Ala185=) | |
| 8 | g.11758445C>T | CA459314508 | GATA4 | c.1299C>T (p.Ala433=) c.1302C>T (p.Ala434=) n.744C>T c.681C>T (p.Ala227=) c.1296C>T (p.Ala432=) c.555C>T (p.Ala185=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.11758446G>A | CA4630908 | GATA4 | c.1300G>A (p.Asp434Asn) c.1303G>A (p.Asp435Asn) n.745G>A c.682G>A (p.Asp228Asn) c.1297G>A (p.Asp433Asn) c.556G>A (p.Asp186Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758446G>C | CA370315838 | GATA4 | c.1300G>C (p.Asp434His) c.1303G>C (p.Asp435His) n.745G>C c.682G>C (p.Asp228His) c.1297G>C (p.Asp433His) c.556G>C (p.Asp186His) | |
| 8 | g.11758446G= | CA1764074360 | GATA4 | c.1300G= (p.Asp434=) c.1303G= (p.Asp435=) n.745G= c.682G= (p.Asp228=) c.1297G= (p.Asp433=) c.556G= (p.Asp186=) | |
| 8 | g.11758446G>T | CA370315839 | GATA4 | c.1300G>T (p.Asp434Tyr) c.1303G>T (p.Asp435Tyr) n.745G>T c.682G>T (p.Asp228Tyr) c.1297G>T (p.Asp433Tyr) c.556G>T (p.Asp186Tyr) | dbSNP |
| 8 | g.11758447A>C | CA370315840 | GATA4 | c.1301A>C (p.Asp434Ala) c.1304A>C (p.Asp435Ala) n.746A>C c.683A>C (p.Asp228Ala) c.1298A>C (p.Asp433Ala) c.557A>C (p.Asp186Ala) | |
| 8 | g.11758447A>G | CA370315841 | GATA4 | c.1301A>G (p.Asp434Gly) c.1304A>G (p.Asp435Gly) n.746A>G c.683A>G (p.Asp228Gly) c.1298A>G (p.Asp433Gly) c.557A>G (p.Asp186Gly) | |
| 8 | g.11758447A>T | CA370315842 | GATA4 | c.1301A>T (p.Asp434Val) c.1304A>T (p.Asp435Val) n.746A>T c.683A>T (p.Asp228Val) c.1298A>T (p.Asp433Val) c.557A>T (p.Asp186Val) | |
| 8 | g.11758448C>A | CA370315843 | GATA4 | c.1302C>A (p.Asp434Glu) c.1305C>A (p.Asp435Glu) n.747C>A c.684C>A (p.Asp228Glu) c.1299C>A (p.Asp433Glu) c.558C>A (p.Asp186Glu) | gnomAD v4 |
| 8 | g.11758448C>G | CA370315844 | GATA4 | c.1302C>G (p.Asp434Glu) c.1305C>G (p.Asp435Glu) n.747C>G c.684C>G (p.Asp228Glu) c.1299C>G (p.Asp433Glu) c.558C>G (p.Asp186Glu) | |
| 8 | g.11758448C>T | CA459314519 | GATA4 | c.1302C>T (p.Asp434=) c.1305C>T (p.Asp435=) n.747C>T c.684C>T (p.Asp228=) c.1299C>T (p.Asp433=) c.558C>T (p.Asp186=) | gnomAD v4 |
| 8 | g.11758449A= | CA1764074363 | GATA4 | c.1303A= (p.Ser435=) c.1306A= (p.Ser436=) n.748A= c.685A= (p.Ser229=) c.1300A= (p.Ser434=) c.559A= (p.Ser187=) | |
| 8 | g.11758449A>C | CA172121538 | GATA4 | c.1303A>C (p.Ser435Arg) c.1306A>C (p.Ser436Arg) n.748A>C c.685A>C (p.Ser229Arg) c.1300A>C (p.Ser434Arg) c.559A>C (p.Ser187Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.11758449A>G | CA370315846 | GATA4 | c.1303A>G (p.Ser435Gly) c.1306A>G (p.Ser436Gly) n.748A>G c.685A>G (p.Ser229Gly) c.1300A>G (p.Ser434Gly) c.559A>G (p.Ser187Gly) | dbSNP |
| 8 | g.11758449A>T | CA370315845 | GATA4 | c.1303A>T (p.Ser435Cys) c.1306A>T (p.Ser436Cys) n.748A>T c.685A>T (p.Ser229Cys) c.1300A>T (p.Ser434Cys) c.559A>T (p.Ser187Cys) | |
| 8 | g.11758450G>A | CA370315847 | GATA4 | c.1304G>A (p.Ser435Asn) c.1307G>A (p.Ser436Asn) n.749G>A c.686G>A (p.Ser229Asn) c.1301G>A (p.Ser434Asn) c.560G>A (p.Ser187Asn) | |
| 8 | g.11758450G>C | CA370315848 | GATA4 | c.1304G>C (p.Ser435Thr) c.1307G>C (p.Ser436Thr) n.749G>C c.686G>C (p.Ser229Thr) c.1301G>C (p.Ser434Thr) c.560G>C (p.Ser187Thr) | |
| 8 | g.11758450G>T | CA370315849 | GATA4 | c.1304G>T (p.Ser435Ile) c.1307G>T (p.Ser436Ile) n.749G>T c.686G>T (p.Ser229Ile) c.1301G>T (p.Ser434Ile) c.560G>T (p.Ser187Ile) | |
| 8 | g.11758451T>A | CA4630909 | GATA4 | c.1305T>A (p.Ser435Arg) c.1308T>A (p.Ser436Arg) n.750T>A c.687T>A (p.Ser229Arg) c.1302T>A (p.Ser434Arg) c.561T>A (p.Ser187Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.11758451T>C | CA459314528 | GATA4 | c.1305T>C (p.Ser435=) c.1308T>C (p.Ser436=) n.750T>C c.687T>C (p.Ser229=) c.1302T>C (p.Ser434=) c.561T>C (p.Ser187=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.11758451T>G | CA370315850 | GATA4 | c.1305T>G (p.Ser435Arg) c.1308T>G (p.Ser436Arg) n.750T>G c.687T>G (p.Ser229Arg) c.1302T>G (p.Ser434Arg) c.561T>G (p.Ser187Arg) | |
| 8 | g.11758451T= | CA1764074367 | GATA4 | c.1305T= (p.Ser435=) c.1308T= (p.Ser436=) n.750T= c.687T= (p.Ser229=) c.1302T= (p.Ser434=) c.561T= (p.Ser187=) | |
| 8 | g.11758452C>A | CA370315853 | GATA4 | c.1306C>A (p.His436Asn) c.1309C>A (p.His437Asn) n.751C>A c.688C>A (p.His230Asn) c.1303C>A (p.His435Asn) c.562C>A (p.His188Asn) | |
| 8 | g.11758452C>G | CA370315852 | GATA4 | c.1306C>G (p.His436Asp) c.1309C>G (p.His437Asp) n.751C>G c.688C>G (p.His230Asp) c.1303C>G (p.His435Asp) c.562C>G (p.His188Asp) | gnomAD v4 |
| 8 | g.11758452C>T | CA370315851 | GATA4 | c.1306C>T (p.His436Tyr) c.1309C>T (p.His437Tyr) n.751C>T c.688C>T (p.His230Tyr) c.1303C>T (p.His435Tyr) c.562C>T (p.His188Tyr) | |
| 8 | g.11758453A>C | CA370315854 | GATA4 | c.1307A>C (p.His436Pro) c.1310A>C (p.His437Pro) n.752A>C c.689A>C (p.His230Pro) c.1304A>C (p.His435Pro) c.563A>C (p.His188Pro) | |
| 8 | g.11758453A>G | CA370315855 | GATA4 | c.1307A>G (p.His436Arg) c.1310A>G (p.His437Arg) n.752A>G c.689A>G (p.His230Arg) c.1304A>G (p.His435Arg) c.563A>G (p.His188Arg) | |
| 8 | g.11758453A>T | CA370315856 | GATA4 | c.1307A>T (p.His436Leu) c.1310A>T (p.His437Leu) n.752A>T c.689A>T (p.His230Leu) c.1304A>T (p.His435Leu) c.563A>T (p.His188Leu) | |
| 8 | g.11758454C>A | CA370315857 | GATA4 | c.1308C>A (p.His436Gln) c.1311C>A (p.His437Gln) n.753C>A c.690C>A (p.His230Gln) c.1305C>A (p.His435Gln) c.564C>A (p.His188Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.11758454C= | CA1764074373 | GATA4 | c.1308C= (p.His436=) c.1311C= (p.His437=) n.753C= c.690C= (p.His230=) c.1305C= (p.His435=) c.564C= (p.His188=) | |
| 8 | g.11758454C>G | CA370315858 | GATA4 | c.1308C>G (p.His436Gln) c.1311C>G (p.His437Gln) n.753C>G c.690C>G (p.His230Gln) c.1305C>G (p.His435Gln) c.564C>G (p.His188Gln) | ClinVar dbSNP |
| 8 | g.11758454C>T | CA4630910 | GATA4 | c.1308C>T (p.His436=) c.1311C>T (p.His437=) n.753C>T c.690C>T (p.His230=) c.1305C>T (p.His435=) c.564C>T (p.His188=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758455G>A | CA370315860 | GATA4 | c.1309G>A (p.Gly437Arg) c.1312G>A (p.Gly438Arg) n.754G>A c.691G>A (p.Gly231Arg) c.1306G>A (p.Gly436Arg) c.565G>A (p.Gly189Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758455G>C | CA370315859 | GATA4 | c.1309G>C (p.Gly437Arg) c.1312G>C (p.Gly438Arg) n.754G>C c.691G>C (p.Gly231Arg) c.1306G>C (p.Gly436Arg) c.565G>C (p.Gly189Arg) | |
| 8 | g.11758455G= | CA1764074377 | GATA4 | c.1309G= (p.Gly437=) c.1312G= (p.Gly438=) n.754G= c.691G= (p.Gly231=) c.1306G= (p.Gly436=) c.565G= (p.Gly189=) | |
| 8 | g.11758455G>T | CA4630911 | GATA4 | c.1309G>T (p.Gly437Trp) c.1312G>T (p.Gly438Trp) n.754G>T c.691G>T (p.Gly231Trp) c.1306G>T (p.Gly436Trp) c.565G>T (p.Gly189Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.11758456G>A | CA370315861 | GATA4 | c.1310G>A (p.Gly437Glu) c.1313G>A (p.Gly438Glu) n.755G>A c.692G>A (p.Gly231Glu) c.1307G>A (p.Gly436Glu) c.566G>A (p.Gly189Glu) | |
| 8 | g.11758456G>C | CA370315862 | GATA4 | c.1310G>C (p.Gly437Ala) c.1313G>C (p.Gly438Ala) n.755G>C c.692G>C (p.Gly231Ala) c.1307G>C (p.Gly436Ala) c.566G>C (p.Gly189Ala) | |
| 8 | g.11758456G>T | CA370315863 | GATA4 | c.1310G>T (p.Gly437Val) c.1313G>T (p.Gly438Val) n.755G>T c.692G>T (p.Gly231Val) c.1307G>T (p.Gly436Val) c.566G>T (p.Gly189Val) | |
| 8 | g.11758457G>A | CA459314550 | GATA4 | c.1311G>A (p.Gly437=) c.1314G>A (p.Gly438=) n.756G>A c.693G>A (p.Gly231=) c.1308G>A (p.Gly436=) c.567G>A (p.Gly189=) | ClinVar gnomAD v4 |
| 8 | g.11758457G>C | CA459314551 | GATA4 | c.1311G>C (p.Gly437=) c.1314G>C (p.Gly438=) n.756G>C c.693G>C (p.Gly231=) c.1308G>C (p.Gly436=) c.567G>C (p.Gly189=) | |
| 8 | g.11758457G>T | CA459314553 | GATA4 | c.1311G>T (p.Gly437=) c.1314G>T (p.Gly438=) n.756G>T c.693G>T (p.Gly231=) c.1308G>T (p.Gly436=) c.567G>T (p.Gly189=) | gnomAD v4 |
| 8 | g.11758458G>A | CA16618586 | GATA4 | c.1312G>A (p.Asp438Asn) c.1315G>A (p.Asp439Asn) n.757G>A c.694G>A (p.Asp232Asn) c.1309G>A (p.Asp437Asn) c.568G>A (p.Asp190Asn) | ClinVar dbSNP COSMIC |
| 8 | g.11758458G>C | CA370315864 | GATA4 | c.1312G>C (p.Asp438His) c.1315G>C (p.Asp439His) n.757G>C c.694G>C (p.Asp232His) c.1309G>C (p.Asp437His) c.568G>C (p.Asp190His) | ClinVar dbSNP |
| 8 | g.11758458G= | CA1764074387 | GATA4 | c.1312G= (p.Asp438=) c.1315G= (p.Asp439=) n.757G= c.694G= (p.Asp232=) c.1309G= (p.Asp437=) c.568G= (p.Asp190=) | |
| 8 | g.11758458G>T | CA172121549 | GATA4 | c.1312G>T (p.Asp438Tyr) c.1315G>T (p.Asp439Tyr) n.757G>T c.694G>T (p.Asp232Tyr) c.1309G>T (p.Asp437Tyr) c.568G>T (p.Asp190Tyr) | dbSNP gnomAD v4 |
| 8 | g.11758459A>C | CA370315867 | GATA4 | c.1313A>C (p.Asp438Ala) c.1316A>C (p.Asp439Ala) n.758A>C c.695A>C (p.Asp232Ala) c.1310A>C (p.Asp437Ala) c.569A>C (p.Asp190Ala) | |
| 8 | g.11758459A>G | CA370315865 | GATA4 | c.1313A>G (p.Asp438Gly) c.1316A>G (p.Asp439Gly) n.758A>G c.695A>G (p.Asp232Gly) c.1310A>G (p.Asp437Gly) c.569A>G (p.Asp190Gly) | |
| 8 | g.11758459A>T | CA370315866 | GATA4 | c.1313A>T (p.Asp438Val) c.1316A>T (p.Asp439Val) n.758A>T c.695A>T (p.Asp232Val) c.1310A>T (p.Asp437Val) c.569A>T (p.Asp190Val) | |
| 8 | g.11758460C>A | CA370315868 | GATA4 | c.1314C>A (p.Asp438Glu) c.1317C>A (p.Asp439Glu) n.759C>A c.696C>A (p.Asp232Glu) c.1311C>A (p.Asp437Glu) c.570C>A (p.Asp190Glu) | |
| 8 | g.11758460C= | CA1764074391 | GATA4 | c.1314C= (p.Asp438=) c.1317C= (p.Asp439=) n.759C= c.696C= (p.Asp232=) c.1311C= (p.Asp437=) c.570C= (p.Asp190=) | |
| 8 | g.11758460C>G | CA370315869 | GATA4 | c.1314C>G (p.Asp438Glu) c.1317C>G (p.Asp439Glu) n.759C>G c.696C>G (p.Asp232Glu) c.1311C>G (p.Asp437Glu) c.570C>G (p.Asp190Glu) | |
| 8 | g.11758460C>T | CA459314561 | GATA4 | c.1314C>T (p.Asp438=) c.1317C>T (p.Asp439=) n.759C>T c.696C>T (p.Asp232=) c.1311C>T (p.Asp437=) c.570C>T (p.Asp190=) | |
| 8 | g.11758461A= | CA1764074395 | GATA4 | c.1315A= (p.Ile439=) c.1318A= (p.Ile440=) n.760A= c.697A= (p.Ile233=) c.1312A= (p.Ile438=) c.571A= (p.Ile191=) | |
| 8 | g.11758461A>C | CA370315870 | GATA4 | c.1315A>C (p.Ile439Leu) c.1318A>C (p.Ile440Leu) n.760A>C c.697A>C (p.Ile233Leu) c.1312A>C (p.Ile438Leu) c.571A>C (p.Ile191Leu) | |
| 8 | g.11758461A>G | CA4630912 | GATA4 | c.1315A>G (p.Ile439Val) c.1318A>G (p.Ile440Val) n.760A>G c.697A>G (p.Ile233Val) c.1312A>G (p.Ile438Val) c.571A>G (p.Ile191Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.11758461A>T | CA370315871 | GATA4 | c.1315A>T (p.Ile439Leu) c.1318A>T (p.Ile440Leu) n.760A>T c.697A>T (p.Ile233Leu) c.1312A>T (p.Ile438Leu) c.571A>T (p.Ile191Leu) | ClinVar dbSNP gnomAD v4 |
| 8 | g.11758462_11758463dup | CA1110747662 | GATA4 | c.1316_1317dup (p.Ile440Ter) c.1319_1320dup (p.Ile441Ter) n.761_762dup c.698_699dup (p.Ile234Ter) c.1313_1314dup (p.Ile439Ter) c.572_573dup (p.Ile192Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.11758462T>A | CA370315872 | GATA4 | c.1316T>A (p.Ile439Lys) c.1319T>A (p.Ile440Lys) n.761T>A c.698T>A (p.Ile233Lys) c.1313T>A (p.Ile438Lys) c.572T>A (p.Ile191Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.11758462T>C | CA172121557 | GATA4 | c.1316T>C (p.Ile439Thr) c.1319T>C (p.Ile440Thr) n.761T>C c.698T>C (p.Ile233Thr) c.1313T>C (p.Ile438Thr) c.572T>C (p.Ile191Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.11758462T>G | CA370315873 | GATA4 | c.1316T>G (p.Ile439Arg) c.1319T>G (p.Ile440Arg) n.761T>G c.698T>G (p.Ile233Arg) c.1313T>G (p.Ile438Arg) c.572T>G (p.Ile191Arg) | |
| 8 | g.11758462T= | CA1764074399 | GATA4 | c.1316T= (p.Ile439=) c.1319T= (p.Ile440=) n.761T= c.698T= (p.Ile233=) c.1313T= (p.Ile438=) c.572T= (p.Ile191=) | |
| 8 | g.11758463A>C | CA459314570 | GATA4 | c.1317A>C (p.Ile439=) c.1320A>C (p.Ile440=) n.762A>C c.699A>C (p.Ile233=) c.1314A>C (p.Ile438=) c.573A>C (p.Ile191=) | |
| 8 | g.11758463A>G | CA370315874 | GATA4 | c.1317A>G (p.Ile439Met) c.1320A>G (p.Ile440Met) n.762A>G c.699A>G (p.Ile233Met) c.1314A>G (p.Ile438Met) c.573A>G (p.Ile191Met) | |
| 8 | g.11758463A>T | CA459314572 | GATA4 | c.1317A>T (p.Ile439=) c.1320A>T (p.Ile440=) n.762A>T c.699A>T (p.Ile233=) c.1314A>T (p.Ile438=) c.573A>T (p.Ile191=) | |
| 8 | g.11758464A>C | CA370315875 | GATA4 | c.1318A>C (p.Ile440Leu) c.1321A>C (p.Ile441Leu) n.763A>C c.700A>C (p.Ile234Leu) c.1315A>C (p.Ile439Leu) c.574A>C (p.Ile192Leu) | |
| 8 | g.11758464A>G | CA370315876 | GATA4 | c.1318A>G (p.Ile440Val) c.1321A>G (p.Ile441Val) n.763A>G c.700A>G (p.Ile234Val) c.1315A>G (p.Ile439Val) c.574A>G (p.Ile192Val) | ClinVar dbSNP |
| 8 | g.11758464A>T | CA370315877 | GATA4 | c.1318A>T (p.Ile440Phe) c.1321A>T (p.Ile441Phe) n.763A>T c.700A>T (p.Ile234Phe) c.1315A>T (p.Ile439Phe) c.574A>T (p.Ile192Phe) | |
| 8 | g.11758465T>A | CA370315878 | GATA4 | c.1319T>A (p.Ile440Asn) c.1322T>A (p.Ile441Asn) n.764T>A c.701T>A (p.Ile234Asn) c.1316T>A (p.Ile439Asn) c.575T>A (p.Ile192Asn) | gnomAD v4 |
| 8 | g.11758465T>C | CA370315879 | GATA4 | c.1319T>C (p.Ile440Thr) c.1322T>C (p.Ile441Thr) n.764T>C c.701T>C (p.Ile234Thr) c.1316T>C (p.Ile439Thr) c.575T>C (p.Ile192Thr) | |
| 8 | g.11758465T>G | CA370315880 | GATA4 | c.1319T>G (p.Ile440Ser) c.1322T>G (p.Ile441Ser) n.764T>G c.701T>G (p.Ile234Ser) c.1316T>G (p.Ile439Ser) c.575T>G (p.Ile192Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.11758466C>A | CA459314580 | GATA4 | c.1320C>A (p.Ile440=) c.1323C>A (p.Ile441=) n.765C>A c.702C>A (p.Ile234=) c.1317C>A (p.Ile439=) c.576C>A (p.Ile192=) | ClinVar gnomAD v4 |
| 8 | g.11758466C= | CA1764074401 | GATA4 | c.1320C= (p.Ile440=) c.1323C= (p.Ile441=) n.765C= c.702C= (p.Ile234=) c.1317C= (p.Ile439=) c.576C= (p.Ile192=) | |
| 8 | g.11758466C>G | CA370315881 | GATA4 | c.1320C>G (p.Ile440Met) c.1323C>G (p.Ile441Met) n.765C>G c.702C>G (p.Ile234Met) c.1317C>G (p.Ile439Met) c.576C>G (p.Ile192Met) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.11758466C>T | CA459314581 | GATA4 | c.1320C>T (p.Ile440=) c.1323C>T (p.Ile441=) n.765C>T c.702C>T (p.Ile234=) c.1317C>T (p.Ile439=) c.576C>T (p.Ile192=) | gnomAD v4 |
| 8 | g.11758467A>C | CA370315882 | GATA4 | c.1321A>C (p.Thr441Pro) c.1324A>C (p.Thr442Pro) n.766A>C c.703A>C (p.Thr235Pro) c.1318A>C (p.Thr440Pro) c.577A>C (p.Thr193Pro) | |
| 8 | g.11758467A>G | CA370315883 | GATA4 | c.1321A>G (p.Thr441Ala) c.1324A>G (p.Thr442Ala) n.766A>G c.703A>G (p.Thr235Ala) c.1318A>G (p.Thr440Ala) c.577A>G (p.Thr193Ala) | |
| 8 | g.11758467A>T | CA370315884 | GATA4 | c.1321A>T (p.Thr441Ser) c.1324A>T (p.Thr442Ser) n.766A>T c.703A>T (p.Thr235Ser) c.1318A>T (p.Thr440Ser) c.577A>T (p.Thr193Ser) | |
| 8 | g.11758468C>A | CA370315885 | GATA4 | c.1322C>A (p.Thr441Asn) c.1325C>A (p.Thr442Asn) n.767C>A c.704C>A (p.Thr235Asn) c.1319C>A (p.Thr440Asn) c.578C>A (p.Thr193Asn) | |
| 8 | g.11758468C= | CA1764074406 | GATA4 | c.1322C= (p.Thr441=) c.1325C= (p.Thr442=) n.767C= c.704C= (p.Thr235=) c.1319C= (p.Thr440=) c.578C= (p.Thr193=) | |
| 8 | g.11758468C>G | CA4630913 | GATA4 | c.1322C>G (p.Thr441Ser) c.1325C>G (p.Thr442Ser) n.767C>G c.704C>G (p.Thr235Ser) c.1319C>G (p.Thr440Ser) c.578C>G (p.Thr193Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.11758468C>T | CA370315886 | GATA4 | c.1322C>T (p.Thr441Ile) c.1325C>T (p.Thr442Ile) n.767C>T c.704C>T (p.Thr235Ile) c.1319C>T (p.Thr440Ile) c.578C>T (p.Thr193Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758469T>A | CA459314591 | GATA4 | c.1323T>A (p.Thr441=) c.1326T>A (p.Thr442=) n.768T>A c.705T>A (p.Thr235=) c.1320T>A (p.Thr440=) c.579T>A (p.Thr193=) | |
| 8 | g.11758469T>C | CA172121563 | GATA4 | c.1323T>C (p.Thr441=) c.1326T>C (p.Thr442=) n.768T>C c.705T>C (p.Thr235=) c.1320T>C (p.Thr440=) c.579T>C (p.Thr193=) | dbSNP |
| 8 | g.11758469T>G | CA459314595 | GATA4 | c.1323T>G (p.Thr441=) c.1326T>G (p.Thr442=) n.768T>G c.705T>G (p.Thr235=) c.1320T>G (p.Thr440=) c.579T>G (p.Thr193=) | |
| 8 | g.11758469T= | CA1764074409 | GATA4 | c.1323T= (p.Thr441=) c.1326T= (p.Thr442=) n.768T= c.705T= (p.Thr235=) c.1320T= (p.Thr440=) c.579T= (p.Thr193=) | |
| 8 | g.11758470G>A | CA370315887 | GATA4 | c.1324G>A (p.Ala442Thr) c.1327G>A (p.Ala443Thr) n.769G>A c.706G>A (p.Ala236Thr) c.1321G>A (p.Ala441Thr) c.580G>A (p.Ala194Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.11758470G>C | CA370315888 | GATA4 | c.1324G>C (p.Ala442Pro) c.1327G>C (p.Ala443Pro) n.769G>C c.706G>C (p.Ala236Pro) c.1321G>C (p.Ala441Pro) c.580G>C (p.Ala194Pro) | |
| 8 | g.11758470G= | CA1764074413 | GATA4 | c.1324G= (p.Ala442=) c.1327G= (p.Ala443=) n.769G= c.706G= (p.Ala236=) c.1321G= (p.Ala441=) c.580G= (p.Ala194=) | |
| 8 | g.11758470G>T | CA370315889 | GATA4 | c.1324G>T (p.Ala442Ser) c.1327G>T (p.Ala443Ser) n.769G>T c.706G>T (p.Ala236Ser) c.1321G>T (p.Ala441Ser) c.580G>T (p.Ala194Ser) | |
| 8 | g.11758471C>A | CA370315890 | GATA4 | c.1325C>A (p.Ala442Glu) c.1328C>A (p.Ala443Glu) n.770C>A c.707C>A (p.Ala236Glu) c.1322C>A (p.Ala441Glu) c.581C>A (p.Ala194Glu) | |
| 8 | g.11758471C= | CA1764074420 | GATA4 | c.1325C= (p.Ala442=) c.1328C= (p.Ala443=) n.770C= c.707C= (p.Ala236=) c.1322C= (p.Ala441=) c.581C= (p.Ala194=) | |
| 8 | g.11758471C>G | CA4630914 | GATA4 | c.1325C>G (p.Ala442Gly) c.1328C>G (p.Ala443Gly) n.770C>G c.707C>G (p.Ala236Gly) c.1322C>G (p.Ala441Gly) c.581C>G (p.Ala194Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758471C>T | CA212672 | GATA4 | c.1325C>T (p.Ala442Val) c.1328C>T (p.Ala443Val) n.770C>T c.707C>T (p.Ala236Val) c.1322C>T (p.Ala441Val) c.581C>T (p.Ala194Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758472G>A | CA4630915 | GATA4 | c.1326G>A (p.Ala442=) c.1329G>A (p.Ala443=) n.771G>A c.708G>A (p.Ala236=) c.1323G>A (p.Ala441=) c.582G>A (p.Ala194=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.11758472G>C | CA459314605 | GATA4 | c.1326G>C (p.Ala442=) c.1329G>C (p.Ala443=) n.771G>C c.708G>C (p.Ala236=) c.1323G>C (p.Ala441=) c.582G>C (p.Ala194=) | |
| 8 | g.11758472G= | CA1764074428 | GATA4 | c.1326G= (p.Ala442=) c.1329G= (p.Ala443=) n.771G= c.708G= (p.Ala236=) c.1323G= (p.Ala441=) c.582G= (p.Ala194=) | |
| 8 | g.11758472G>T | CA459314606 | GATA4 | c.1326G>T (p.Ala442=) c.1329G>T (p.Ala443=) n.771G>T c.708G>T (p.Ala236=) c.1323G>T (p.Ala441=) c.582G>T (p.Ala194=) | gnomAD v4 COSMIC |
| 8 | g.11758473T>A | CA370315891 | GATA4 | c.1327T>A (p.Ter443Lys) c.1330T>A (p.Ter444Lys) n.772T>A c.709T>A (p.Ter237Lys) c.1324T>A (p.Ter442Lys) c.583T>A (p.Ter195Lys) | |
| 8 | g.11758473T>C | CA370315892 | GATA4 | c.1327T>C (p.Ter443Gln) c.1330T>C (p.Ter444Gln) n.772T>C c.709T>C (p.Ter237Gln) c.1324T>C (p.Ter442Gln) c.583T>C (p.Ter195Gln) | |
| 8 | g.11758473T>G | CA370315893 | GATA4 | c.1327T>G (p.Ter443Glu) c.1330T>G (p.Ter444Glu) n.772T>G c.709T>G (p.Ter237Glu) c.1324T>G (p.Ter442Glu) c.583T>G (p.Ter195Glu) | |
| 8 | g.11758474A>C | CA370315894 | GATA4 | c.1328A>C (p.Ter443Ser) c.1331A>C (p.Ter444Ser) n.773A>C c.710A>C (p.Ter237Ser) c.1325A>C (p.Ter442Ser) c.584A>C (p.Ter195Ser) | |
| 8 | g.11758474A>G | CA459314613 | GATA4 | c.1328A>G (p.Ter443=) c.1331A>G (p.Ter444=) n.773A>G c.710A>G (p.Ter237=) c.1325A>G (p.Ter442=) c.584A>G (p.Ter195=) | |
| 8 | g.11758474A>T | CA370315895 | GATA4 | c.1328A>T (p.Ter443Leu) c.1331A>T (p.Ter444Leu) n.773A>T c.710A>T (p.Ter237Leu) c.1325A>T (p.Ter442Leu) c.584A>T (p.Ter195Leu) | |
| 8 | g.11758475A= | CA1764074433 | GATA4 | c.1329A= (p.Ter443=) c.1332A= (p.Ter444=) n.774A= c.711A= (p.Ter237=) c.1326A= (p.Ter442=) c.585A= (p.Ter195=) | |
| 8 | g.11758475A>C | CA370315896 | GATA4 | c.1329A>C (p.Ter443Tyr) c.1332A>C (p.Ter444Tyr) n.774A>C c.711A>C (p.Ter237Tyr) c.1326A>C (p.Ter442Tyr) c.585A>C (p.Ter195Tyr) | |
| 8 | g.11758475A>G | CA459314618 | GATA4 | c.1329A>G (p.Ter443=) c.1332A>G (p.Ter444=) n.774A>G c.711A>G (p.Ter237=) c.1326A>G (p.Ter442=) c.585A>G (p.Ter195=) | gnomAD v4 |
| 8 | g.11758475A>T | CA370315897 | GATA4 | c.1329A>T (p.Ter443Tyr) c.1332A>T (p.Ter444Tyr) n.774A>T c.711A>T (p.Ter237Tyr) c.1326A>T (p.Ter442Tyr) c.585A>T (p.Ter195Tyr) | |
| 8 | g.11758476T>A | CA2579094231 | GATA4 | c.*1T>A (n.*1T>A) n.775T>A c.1327T>A (n.1327T>A) | |
| 8 | g.11758476T>C | CA846164205 | GATA4 | c.*1T>C (n.*1T>C) n.775T>C c.1327T>C (n.1327T>C) | dbSNP |
| 8 | g.11758476T= | CA1764074436 | GATA4 | c.*1T= (n.*1T=) n.775T= c.1327T= (n.1327T=) | |
| 8 | g.11758485_11758491dup | CA580031760 | GATA4 | c.*10_*16dup (n.*10_*16dup) n.784_790dup c.1336_1342dup (n.1336_1342dup) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.11758477C>A | CA2579094232 | GATA4 | c.*2C>A (n.*2C>A) n.776C>A c.1328C>A (n.1328C>A) | gnomAD v4 |
| 8 | g.11758477C= | CA1764074437 | GATA4 | c.*2C= (n.*2C=) n.776C= c.1328C= (n.1328C=) | |
| 8 | g.11758477C>G | CA4630916 | GATA4 | c.*2C>G (n.*2C>G) n.776C>G c.1328C>G (n.1328C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.11758478T>C | CA2686137417 | GATA4 | c.*3T>C (n.*3T>C) n.777T>C c.1329T>C (n.1329T>C) | gnomAD v4 |
| 8 | g.11758479T>C | CA4630917 | GATA4 | c.*4T>C (n.*4T>C) n.778T>C c.1330T>C (n.1330T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758479T>G | CA4630918 | GATA4 | c.*4T>G (n.*4T>G) n.778T>G c.1330T>G (n.1330T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758479T= | CA1764074439 | GATA4 | c.*4T= (n.*4T=) n.778T= c.1330T= (n.1330T=) | |
| 8 | g.11758480C= | CA1764074441 | GATA4 | c.*5C= (n.*5C=) n.779C= c.1331C= (n.1331C=) | |
| 8 | g.11758480C>T | CA172121581 | GATA4 | c.*5C>T (n.*5C>T) n.779C>T c.1331C>T (n.1331C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |