Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.11758327C>ACA370315593GATA4c.1181C>A (p.Pro394His)
c.1184C>A (p.Pro395His)
n.626C>A
c.563C>A (p.Pro188His)
c.1178C>A (p.Pro393His)
c.437C>A (p.Pro146His)
8g.11758327C>GCA370315594GATA4c.1181C>G (p.Pro394Arg)
c.1184C>G (p.Pro395Arg)
n.626C>G
c.563C>G (p.Pro188Arg)
c.1178C>G (p.Pro393Arg)
c.437C>G (p.Pro146Arg)
gnomAD v4
8g.11758327C>TCA370315595GATA4c.1181C>T (p.Pro394Leu)
c.1184C>T (p.Pro395Leu)
n.626C>T
c.563C>T (p.Pro188Leu)
c.1178C>T (p.Pro393Leu)
c.437C>T (p.Pro146Leu)
8g.11758327_11758330delinsCCTCCA1764074122GATA4c.1181_1184delinsCCTC (p.Pro394=)
c.1184_1187delinsCCTC (p.Pro395=)
n.626_629delinsCCTC
c.563_566delinsCCTC (p.Pro188=)
c.1178_1181delinsCCTC (p.Pro393=)
c.437_440delinsCCTC (p.Pro146=)
8g.11758328C>ACA459314056GATA4c.1182C>A (p.Pro394=)
c.1185C>A (p.Pro395=)
n.627C>A
c.564C>A (p.Pro188=)
c.1179C>A (p.Pro393=)
c.438C>A (p.Pro146=)
8g.11758328C=CA1764074126GATA4c.1182C= (p.Pro394=)
c.1185C= (p.Pro395=)
n.627C=
c.564C= (p.Pro188=)
c.1179C= (p.Pro393=)
c.438C= (p.Pro146=)
8g.11758328C>GCA459314058GATA4c.1182C>G (p.Pro394=)
c.1185C>G (p.Pro395=)
n.627C>G
c.564C>G (p.Pro188=)
c.1179C>G (p.Pro393=)
c.438C>G (p.Pro146=)
gnomAD v4
8g.11758328C>TCA459314059GATA4c.1182C>T (p.Pro394=)
c.1185C>T (p.Pro395=)
n.627C>T
c.564C>T (p.Pro188=)
c.1179C>T (p.Pro393=)
c.438C>T (p.Pro146=)
dbSNP gnomAD v3 gnomAD v4 COSMIC
8g.11758328_11758330delinsTGCA915945610GATA4c.1182_1184delinsTG (p.Ser395AlafsTer9)
c.1185_1187delinsTG (p.Ser396AlafsTer9)
n.627_629delinsTG
c.564_566delinsTG (p.Ser189AlafsTer9)
c.1179_1181delinsTG (p.Ser394AlafsTer9)
c.438_440delinsTG (p.Ser147AlafsTer9)
ClinVar dbSNP
8g.11758329T>ACA370315596GATA4c.1183T>A (p.Ser395Thr)
c.1186T>A (p.Ser396Thr)
n.628T>A
c.565T>A (p.Ser189Thr)
c.1180T>A (p.Ser394Thr)
c.439T>A (p.Ser147Thr)
8g.11758329T>CCA370315597GATA4c.1183T>C (p.Ser395Pro)
c.1186T>C (p.Ser396Pro)
n.628T>C
c.565T>C (p.Ser189Pro)
c.1180T>C (p.Ser394Pro)
c.439T>C (p.Ser147Pro)
8g.11758329T>GCA370315598GATA4c.1183T>G (p.Ser395Ala)
c.1186T>G (p.Ser396Ala)
n.628T>G
c.565T>G (p.Ser189Ala)
c.1180T>G (p.Ser394Ala)
c.439T>G (p.Ser147Ala)
8g.11758330C>ACA370315599GATA4c.1184C>A (p.Ser395Tyr)
c.1187C>A (p.Ser396Tyr)
n.629C>A
c.566C>A (p.Ser189Tyr)
c.1181C>A (p.Ser394Tyr)
c.440C>A (p.Ser147Tyr)
gnomAD v4
8g.11758330C>GCA370315601GATA4c.1184C>G (p.Ser395Cys)
c.1187C>G (p.Ser396Cys)
n.629C>G
c.566C>G (p.Ser189Cys)
c.1181C>G (p.Ser394Cys)
c.440C>G (p.Ser147Cys)
gnomAD v4
8g.11758330C>TCA370315600GATA4c.1184C>T (p.Ser395Phe)
c.1187C>T (p.Ser396Phe)
n.629C>T
c.566C>T (p.Ser189Phe)
c.1181C>T (p.Ser394Phe)
c.440C>T (p.Ser147Phe)
8g.11758331C>ACA4630885GATA4c.1185C>A (p.Ser395=)
c.1188C>A (p.Ser396=)
n.630C>A
c.567C>A (p.Ser189=)
c.1182C>A (p.Ser394=)
c.441C>A (p.Ser147=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.11758331C=CA1764074128GATA4c.1185C= (p.Ser395=)
c.1188C= (p.Ser396=)
n.630C=
c.567C= (p.Ser189=)
c.1182C= (p.Ser394=)
c.441C= (p.Ser147=)
8g.11758331C>GCA459314062GATA4c.1185C>G (p.Ser395=)
c.1188C>G (p.Ser396=)
n.630C>G
c.567C>G (p.Ser189=)
c.1182C>G (p.Ser394=)
c.441C>G (p.Ser147=)
8g.11758331C>TCA459314063GATA4c.1185C>T (p.Ser395=)
c.1188C>T (p.Ser396=)
n.630C>T
c.567C>T (p.Ser189=)
c.1182C>T (p.Ser394=)
c.441C>T (p.Ser147=)
ClinVar dbSNP gnomAD v4
8g.11758332A=CA1764074131GATA4c.1186A= (p.Ile396=)
c.1189A= (p.Ile397=)
n.631A=
c.568A= (p.Ile190=)
c.1183A= (p.Ile395=)
c.442A= (p.Ile148=)
8g.11758332A>CCA370315602GATA4c.1186A>C (p.Ile396Leu)
c.1189A>C (p.Ile397Leu)
n.631A>C
c.568A>C (p.Ile190Leu)
c.1183A>C (p.Ile395Leu)
c.442A>C (p.Ile148Leu)
8g.11758332A>GCA370315603GATA4c.1186A>G (p.Ile396Val)
c.1189A>G (p.Ile397Val)
n.631A>G
c.568A>G (p.Ile190Val)
c.1183A>G (p.Ile395Val)
c.442A>G (p.Ile148Val)
dbSNP
8g.11758332A>TCA370315604GATA4c.1186A>T (p.Ile396Phe)
c.1189A>T (p.Ile397Phe)
n.631A>T
c.568A>T (p.Ile190Phe)
c.1183A>T (p.Ile395Phe)
c.442A>T (p.Ile148Phe)
8g.11758333T>ACA370315605GATA4c.1187T>A (p.Ile396Asn)
c.1190T>A (p.Ile397Asn)
n.632T>A
c.569T>A (p.Ile190Asn)
c.1184T>A (p.Ile395Asn)
c.443T>A (p.Ile148Asn)
8g.11758333T>CCA370315606GATA4c.1187T>C (p.Ile396Thr)
c.1190T>C (p.Ile397Thr)
n.632T>C
c.569T>C (p.Ile190Thr)
c.1184T>C (p.Ile395Thr)
c.443T>C (p.Ile148Thr)
8g.11758333T>GCA370315607GATA4c.1187T>G (p.Ile396Ser)
c.1190T>G (p.Ile397Ser)
n.632T>G
c.569T>G (p.Ile190Ser)
c.1184T>G (p.Ile395Ser)
c.443T>G (p.Ile148Ser)
8g.11758334C>ACA459314066GATA4c.1188C>A (p.Ile396=)
c.1191C>A (p.Ile397=)
n.633C>A
c.570C>A (p.Ile190=)
c.1185C>A (p.Ile395=)
c.444C>A (p.Ile148=)
8g.11758334C>GCA370315608GATA4c.1188C>G (p.Ile396Met)
c.1191C>G (p.Ile397Met)
n.633C>G
c.570C>G (p.Ile190Met)
c.1185C>G (p.Ile395Met)
c.444C>G (p.Ile148Met)
8g.11758334C>TCA459314067GATA4c.1188C>T (p.Ile396=)
c.1191C>T (p.Ile397=)
n.633C>T
c.570C>T (p.Ile190=)
c.1185C>T (p.Ile395=)
c.444C>T (p.Ile148=)
ClinVar
8g.11758335C>ACA370315609GATA4c.1189C>A (p.His397Asn)
c.1192C>A (p.His398Asn)
n.634C>A
c.571C>A (p.His191Asn)
c.1186C>A (p.His396Asn)
c.445C>A (p.His149Asn)
8g.11758335C=CA1764074133GATA4c.1189C= (p.His397=)
c.1192C= (p.His398=)
n.634C=
c.571C= (p.His191=)
c.1186C= (p.His396=)
c.445C= (p.His149=)
8g.11758335C>GCA370315610GATA4c.1189C>G (p.His397Asp)
c.1192C>G (p.His398Asp)
n.634C>G
c.571C>G (p.His191Asp)
c.1186C>G (p.His396Asp)
c.445C>G (p.His149Asp)
8g.11758335C>TCA370315611GATA4c.1189C>T (p.His397Tyr)
c.1192C>T (p.His398Tyr)
n.634C>T
c.571C>T (p.His191Tyr)
c.1186C>T (p.His396Tyr)
c.445C>T (p.His149Tyr)
dbSNP gnomAD v4
8g.11758336A=CA1764074136GATA4c.1190A= (p.His397=)
c.1193A= (p.His398=)
n.635A=
c.572A= (p.His191=)
c.1187A= (p.His396=)
c.446A= (p.His149=)
8g.11758336A>CCA370315614GATA4c.1190A>C (p.His397Pro)
c.1193A>C (p.His398Pro)
n.635A>C
c.572A>C (p.His191Pro)
c.1187A>C (p.His396Pro)
c.446A>C (p.His149Pro)
dbSNP
8g.11758336A>GCA370315613GATA4c.1190A>G (p.His397Arg)
c.1193A>G (p.His398Arg)
n.635A>G
c.572A>G (p.His191Arg)
c.1187A>G (p.His396Arg)
c.446A>G (p.His149Arg)
8g.11758336A>TCA370315612GATA4c.1190A>T (p.His397Leu)
c.1193A>T (p.His398Leu)
n.635A>T
c.572A>T (p.His191Leu)
c.1187A>T (p.His396Leu)
c.446A>T (p.His149Leu)
8g.11758337C>ACA370315615GATA4c.1191C>A (p.His397Gln)
c.1194C>A (p.His398Gln)
n.636C>A
c.573C>A (p.His191Gln)
c.1188C>A (p.His396Gln)
c.447C>A (p.His149Gln)
8g.11758337C>GCA370315616GATA4c.1191C>G (p.His397Gln)
c.1194C>G (p.His398Gln)
n.636C>G
c.573C>G (p.His191Gln)
c.1188C>G (p.His396Gln)
c.447C>G (p.His149Gln)
8g.11758337C>TCA459314069GATA4c.1191C>T (p.His397=)
c.1194C>T (p.His398=)
n.636C>T
c.573C>T (p.His191=)
c.1188C>T (p.His396=)
c.447C>T (p.His149=)
8g.11758338C>ACA370315617GATA4c.1192C>A (p.Pro398Thr)
c.1195C>A (p.Pro399Thr)
n.637C>A
c.574C>A (p.Pro192Thr)
c.1189C>A (p.Pro397Thr)
c.448C>A (p.Pro150Thr)
8g.11758338C>GCA370315618GATA4c.1192C>G (p.Pro398Ala)
c.1195C>G (p.Pro399Ala)
n.637C>G
c.574C>G (p.Pro192Ala)
c.1189C>G (p.Pro397Ala)
c.448C>G (p.Pro150Ala)
8g.11758338C>TCA370315619GATA4c.1192C>T (p.Pro398Ser)
c.1195C>T (p.Pro399Ser)
n.637C>T
c.574C>T (p.Pro192Ser)
c.1189C>T (p.Pro397Ser)
c.448C>T (p.Pro150Ser)
gnomAD v4
8g.11758339C>ACA370315620GATA4c.1193C>A (p.Pro398His)
c.1196C>A (p.Pro399His)
n.638C>A
c.575C>A (p.Pro192His)
c.1190C>A (p.Pro397His)
c.449C>A (p.Pro150His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11758339C=CA1764074139GATA4c.1193C= (p.Pro398=)
c.1196C= (p.Pro399=)
n.638C=
c.575C= (p.Pro192=)
c.1190C= (p.Pro397=)
c.449C= (p.Pro150=)
8g.11758339C>GCA370315621GATA4c.1193C>G (p.Pro398Arg)
c.1196C>G (p.Pro399Arg)
n.638C>G
c.575C>G (p.Pro192Arg)
c.1190C>G (p.Pro397Arg)
c.449C>G (p.Pro150Arg)
8g.11758339C>TCA370315622GATA4c.1193C>T (p.Pro398Leu)
c.1196C>T (p.Pro399Leu)
n.638C>T
c.575C>T (p.Pro192Leu)
c.1190C>T (p.Pro397Leu)
c.449C>T (p.Pro150Leu)
8g.11758340T>ACA459314071GATA4c.1194T>A (p.Pro398=)
c.1197T>A (p.Pro399=)
n.639T>A
c.576T>A (p.Pro192=)
c.1191T>A (p.Pro397=)
c.450T>A (p.Pro150=)
8g.11758340T>CCA459314073GATA4c.1194T>C (p.Pro398=)
c.1197T>C (p.Pro399=)
n.639T>C
c.576T>C (p.Pro192=)
c.1191T>C (p.Pro397=)
c.450T>C (p.Pro150=)
8g.11758340T>GCA459314074GATA4c.1194T>G (p.Pro398=)
c.1197T>G (p.Pro399=)
n.639T>G
c.576T>G (p.Pro192=)
c.1191T>G (p.Pro397=)
c.450T>G (p.Pro150=)
dbSNP gnomAD v4
8g.11758341G>ACA370315623GATA4c.1195G>A (p.Val399Ile)
c.1198G>A (p.Val400Ile)
n.640G>A
c.577G>A (p.Val193Ile)
c.1192G>A (p.Val398Ile)
c.451G>A (p.Val151Ile)
8g.11758341G>CCA172121423GATA4c.1195G>C (p.Val399Leu)
c.1198G>C (p.Val400Leu)
n.640G>C
c.577G>C (p.Val193Leu)
c.1192G>C (p.Val398Leu)
c.451G>C (p.Val151Leu)
ClinVar dbSNP gnomAD v4
8g.11758341G=CA1764074142GATA4c.1195G= (p.Val399=)
c.1198G= (p.Val400=)
n.640G=
c.577G= (p.Val193=)
c.1192G= (p.Val398=)
c.451G= (p.Val151=)
8g.11758341G>TCA370315624GATA4c.1195G>T (p.Val399Phe)
c.1198G>T (p.Val400Phe)
n.640G>T
c.577G>T (p.Val193Phe)
c.1192G>T (p.Val398Phe)
c.451G>T (p.Val151Phe)
ClinVar gnomAD v4
8g.11758342T>ACA370315627GATA4c.1196T>A (p.Val399Asp)
c.1199T>A (p.Val400Asp)
n.641T>A
c.578T>A (p.Val193Asp)
c.1193T>A (p.Val398Asp)
c.452T>A (p.Val151Asp)
8g.11758342T>CCA370315626GATA4c.1196T>C (p.Val399Ala)
c.1199T>C (p.Val400Ala)
n.641T>C
c.578T>C (p.Val193Ala)
c.1193T>C (p.Val398Ala)
c.452T>C (p.Val151Ala)
ClinVar dbSNP gnomAD v4
8g.11758342T>GCA370315625GATA4c.1196T>G (p.Val399Gly)
c.1199T>G (p.Val400Gly)
n.641T>G
c.578T>G (p.Val193Gly)
c.1193T>G (p.Val398Gly)
c.452T>G (p.Val151Gly)
8g.11758343C>ACA459314078GATA4c.1197C>A (p.Val399=)
c.1200C>A (p.Val400=)
n.642C>A
c.579C>A (p.Val193=)
c.1194C>A (p.Val398=)
c.453C>A (p.Val151=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11758343C=CA1764074146GATA4c.1197C= (p.Val399=)
c.1200C= (p.Val400=)
n.642C=
c.579C= (p.Val193=)
c.1194C= (p.Val398=)
c.453C= (p.Val151=)
8g.11758343C>GCA459314079GATA4c.1197C>G (p.Val399=)
c.1200C>G (p.Val400=)
n.642C>G
c.579C>G (p.Val193=)
c.1194C>G (p.Val398=)
c.453C>G (p.Val151=)
gnomAD v4
8g.11758343C>TCA4630886GATA4c.1197C>T (p.Val399=)
c.1200C>T (p.Val400=)
n.642C>T
c.579C>T (p.Val193=)
c.1194C>T (p.Val398=)
c.453C>T (p.Val151=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
8g.11758344C>ACA370315630GATA4c.1198C>A (p.Leu400Ile)
c.1201C>A (p.Leu401Ile)
n.643C>A
c.580C>A (p.Leu194Ile)
c.1195C>A (p.Leu399Ile)
c.454C>A (p.Leu152Ile)
8g.11758344C=CA1764074148GATA4c.1198C= (p.Leu400=)
c.1201C= (p.Leu401=)
n.643C=
c.580C= (p.Leu194=)
c.1195C= (p.Leu399=)
c.454C= (p.Leu152=)
8g.11758344C>GCA370315628GATA4c.1198C>G (p.Leu400Val)
c.1201C>G (p.Leu401Val)
n.643C>G
c.580C>G (p.Leu194Val)
c.1195C>G (p.Leu399Val)
c.454C>G (p.Leu152Val)
ClinVar dbSNP gnomAD v4
8g.11758344C>TCA370315629GATA4c.1198C>T (p.Leu400Phe)
c.1201C>T (p.Leu401Phe)
n.643C>T
c.580C>T (p.Leu194Phe)
c.1195C>T (p.Leu399Phe)
c.454C>T (p.Leu152Phe)
8g.11758349_11758363delCA2686137362GATA4c.1203_1217del (p.Ala402_Ser406del)
c.1206_1220del (p.Ala403_Ser407del)
n.648_662del
c.585_599del (p.Ala196_Ser200del)
c.1200_1214del (p.Ala401_Ser405del)
c.459_473del (p.Ala154_Ser158del)
gnomAD v4
8g.11758345T>ACA370315631GATA4c.1199T>A (p.Leu400His)
c.1202T>A (p.Leu401His)
n.644T>A
c.581T>A (p.Leu194His)
c.1196T>A (p.Leu399His)
c.455T>A (p.Leu152His)
8g.11758345T>CCA370315632GATA4c.1199T>C (p.Leu400Pro)
c.1202T>C (p.Leu401Pro)
n.644T>C
c.581T>C (p.Leu194Pro)
c.1196T>C (p.Leu399Pro)
c.455T>C (p.Leu152Pro)
ClinVar
8g.11758345T>GCA370315633GATA4c.1199T>G (p.Leu400Arg)
c.1202T>G (p.Leu401Arg)
n.644T>G
c.581T>G (p.Leu194Arg)
c.1196T>G (p.Leu399Arg)
c.455T>G (p.Leu152Arg)
8g.11758346C>ACA459314082GATA4c.1200C>A (p.Leu400=)
c.1203C>A (p.Leu401=)
n.645C>A
c.582C>A (p.Leu194=)
c.1197C>A (p.Leu399=)
c.456C>A (p.Leu152=)
8g.11758346C=CA1764074152GATA4c.1200C= (p.Leu400=)
c.1203C= (p.Leu401=)
n.645C=
c.582C= (p.Leu194=)
c.1197C= (p.Leu399=)
c.456C= (p.Leu152=)
8g.11758346C>GCA459314081GATA4c.1200C>G (p.Leu400=)
c.1203C>G (p.Leu401=)
n.645C>G
c.582C>G (p.Leu194=)
c.1197C>G (p.Leu399=)
c.456C>G (p.Leu152=)
dbSNP gnomAD v2 gnomAD v4
8g.11758346C>TCA459314080GATA4c.1200C>T (p.Leu400=)
c.1203C>T (p.Leu401=)
n.645C>T
c.582C>T (p.Leu194=)
c.1197C>T (p.Leu399=)
c.456C>T (p.Leu152=)
8g.11758347T>ACA370315634GATA4c.1201T>A (p.Ser401Thr)
c.1204T>A (p.Ser402Thr)
n.646T>A
c.583T>A (p.Ser195Thr)
c.1198T>A (p.Ser400Thr)
c.457T>A (p.Ser153Thr)
8g.11758347T>CCA370315635GATA4c.1201T>C (p.Ser401Pro)
c.1204T>C (p.Ser402Pro)
n.646T>C
c.583T>C (p.Ser195Pro)
c.1198T>C (p.Ser400Pro)
c.457T>C (p.Ser153Pro)
8g.11758347T>GCA370315636GATA4c.1201T>G (p.Ser401Ala)
c.1204T>G (p.Ser402Ala)
n.646T>G
c.583T>G (p.Ser195Ala)
c.1198T>G (p.Ser400Ala)
c.457T>G (p.Ser153Ala)
8g.11758348C>ACA370315637GATA4c.1202C>A (p.Ser401Ter)
c.1205C>A (p.Ser402Ter)
n.647C>A
c.584C>A (p.Ser195Ter)
c.1199C>A (p.Ser400Ter)
c.458C>A (p.Ser153Ter)
gnomAD v4
8g.11758348C=CA1764074157GATA4c.1202C= (p.Ser401=)
c.1205C= (p.Ser402=)
n.647C=
c.584C= (p.Ser195=)
c.1199C= (p.Ser400=)
c.458C= (p.Ser153=)
8g.11758348C>GCA370315638GATA4c.1202C>G (p.Ser401Trp)
c.1205C>G (p.Ser402Trp)
n.647C>G
c.584C>G (p.Ser195Trp)
c.1199C>G (p.Ser400Trp)
c.458C>G (p.Ser153Trp)
8g.11758348C>TCA4630887GATA4c.1202C>T (p.Ser401Leu)
c.1205C>T (p.Ser402Leu)
n.647C>T
c.584C>T (p.Ser195Leu)
c.1199C>T (p.Ser400Leu)
c.458C>T (p.Ser153Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11758349G>ACA4630888GATA4c.1203G>A (p.Ser401=)
c.1206G>A (p.Ser402=)
n.648G>A
c.585G>A (p.Ser195=)
c.1200G>A (p.Ser400=)
c.459G>A (p.Ser153=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11758349G>CCA459314087GATA4c.1203G>C (p.Ser401=)
c.1206G>C (p.Ser402=)
n.648G>C
c.585G>C (p.Ser195=)
c.1200G>C (p.Ser400=)
c.459G>C (p.Ser153=)
ClinVar gnomAD v4
8g.11758349G=CA1764074166GATA4c.1203G= (p.Ser401=)
c.1206G= (p.Ser402=)
n.648G=
c.585G= (p.Ser195=)
c.1200G= (p.Ser400=)
c.459G= (p.Ser153=)
8g.11758349G>TCA459314088GATA4c.1203G>T (p.Ser401=)
c.1206G>T (p.Ser402=)
n.648G>T
c.585G>T (p.Ser195=)
c.1200G>T (p.Ser400=)
c.459G>T (p.Ser153=)
8g.11758349_11758350insCCAATCTGTGGTATTCTGTTATGCA1764074165GATA4c.1203_1204insCCAATCTGTGGTATTCTGTTATG (p.Ala402ProfsTer10)
c.1206_1207insCCAATCTGTGGTATTCTGTTATG (p.Ala403ProfsTer10)
n.648_649insCCAATCTGTGGTATTCTGTTATG
c.585_586insCCAATCTGTGGTATTCTGTTATG (p.Ala196ProfsTer10)
c.1200_1201insCCAATCTGTGGTATTCTGTTATG (p.Ala401ProfsTer10)
c.459_460insCCAATCTGTGGTATTCTGTTATG (p.Ala154ProfsTer10)
dbSNP
8g.11758350G>ACA370315641GATA4c.1204G>A (p.Ala402Thr)
c.1207G>A (p.Ala403Thr)
n.649G>A
c.586G>A (p.Ala196Thr)
c.1201G>A (p.Ala401Thr)
c.460G>A (p.Ala154Thr)
gnomAD v4
8g.11758350G>CCA370315639GATA4c.1204G>C (p.Ala402Pro)
c.1207G>C (p.Ala403Pro)
n.649G>C
c.586G>C (p.Ala196Pro)
c.1201G>C (p.Ala401Pro)
c.460G>C (p.Ala154Pro)
8g.11758350G>TCA370315640GATA4c.1204G>T (p.Ala402Ser)
c.1207G>T (p.Ala403Ser)
n.649G>T
c.586G>T (p.Ala196Ser)
c.1201G>T (p.Ala401Ser)
c.460G>T (p.Ala154Ser)
8g.11758350_11758351delinsGCCA1764074171GATA4c.1204_1205delinsGC (p.Ala402=)
c.1207_1208delinsGC (p.Ala403=)
n.649_650delinsGC
c.586_587delinsGC (p.Ala196=)
c.1201_1202delinsGC (p.Ala401=)
c.460_461delinsGC (p.Ala154=)
8g.11758351C>ACA370315642GATA4c.1205C>A (p.Ala402Asp)
c.1208C>A (p.Ala403Asp)
n.650C>A
c.587C>A (p.Ala196Asp)
c.1202C>A (p.Ala401Asp)
c.461C>A (p.Ala154Asp)
ClinVar dbSNP
8g.11758351C=CA1764074175GATA4c.1205C= (p.Ala402=)
c.1208C= (p.Ala403=)
n.650C=
c.587C= (p.Ala196=)
c.1202C= (p.Ala401=)
c.461C= (p.Ala154=)
8g.11758351C>GCA370315643GATA4c.1205C>G (p.Ala402Gly)
c.1208C>G (p.Ala403Gly)
n.650C>G
c.587C>G (p.Ala196Gly)
c.1202C>G (p.Ala401Gly)
c.461C>G (p.Ala154Gly)
8g.11758351C>TCA370315644GATA4c.1205C>T (p.Ala402Val)
c.1208C>T (p.Ala403Val)
n.650C>T
c.587C>T (p.Ala196Val)
c.1202C>T (p.Ala401Val)
c.461C>T (p.Ala154Val)
8g.11758353delCA580031741GATA4c.1207del (p.Leu403Ter)
c.1210del (p.Leu404Ter)
n.652del
c.589del (p.Leu197Ter)
c.1204del (p.Leu402Ter)
c.463del (p.Leu155Ter)
dbSNP gnomAD v2 gnomAD v4
8g.11758351_11758352insACCAGCTTTAGCGAACTAATACACA1764074178GATA4c.1205_1206insACCAGCTTTAGCGAACTAATACA (p.Leu403ProfsTer6)
c.1208_1209insACCAGCTTTAGCGAACTAATACA (p.Leu404ProfsTer6)
n.650_651insACCAGCTTTAGCGAACTAATACA
c.587_588insACCAGCTTTAGCGAACTAATACA (p.Leu197ProfsTer6)
c.1202_1203insACCAGCTTTAGCGAACTAATACA (p.Leu402ProfsTer6)
c.461_462insACCAGCTTTAGCGAACTAATACA (p.Leu155ProfsTer6)
dbSNP
8g.11758352C>ACA459314091GATA4c.1206C>A (p.Ala402=)
c.1209C>A (p.Ala403=)
n.651C>A
c.588C>A (p.Ala196=)
c.1203C>A (p.Ala401=)
c.462C>A (p.Ala154=)
8g.11758352C>GCA459314092GATA4c.1206C>G (p.Ala402=)
c.1209C>G (p.Ala403=)
n.651C>G
c.588C>G (p.Ala196=)
c.1203C>G (p.Ala401=)
c.462C>G (p.Ala154=)
8g.11758352C>TCA459314093GATA4c.1206C>T (p.Ala402=)
c.1209C>T (p.Ala403=)
n.651C>T
c.588C>T (p.Ala196=)
c.1203C>T (p.Ala401=)
c.462C>T (p.Ala154=)
ClinVar dbSNP
8g.11758353C>ACA4630889GATA4c.1207C>A (p.Leu403Met)
c.1210C>A (p.Leu404Met)
n.652C>A
c.589C>A (p.Leu197Met)
c.1204C>A (p.Leu402Met)
c.463C>A (p.Leu155Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.11758353C=CA1764074181GATA4c.1207C= (p.Leu403=)
c.1210C= (p.Leu404=)
n.652C=
c.589C= (p.Leu197=)
c.1204C= (p.Leu402=)
c.463C= (p.Leu155=)
8g.11758353C>GCA370315645GATA4c.1207C>G (p.Leu403Val)
c.1210C>G (p.Leu404Val)
n.652C>G
c.589C>G (p.Leu197Val)
c.1204C>G (p.Leu402Val)
c.463C>G (p.Leu155Val)
ClinVar gnomAD v4
8g.11758353C>TCA459314094GATA4c.1207C>T (p.Leu403=)
c.1210C>T (p.Leu404=)
n.652C>T
c.589C>T (p.Leu197=)
c.1204C>T (p.Leu402=)
c.463C>T (p.Leu155=)
ClinVar dbSNP gnomAD v3 gnomAD v4
8g.11758354T>ACA370315646GATA4c.1208T>A (p.Leu403Gln)
c.1211T>A (p.Leu404Gln)
n.653T>A
c.590T>A (p.Leu197Gln)
c.1205T>A (p.Leu402Gln)
c.464T>A (p.Leu155Gln)
8g.11758354T>CCA370315647GATA4c.1208T>C (p.Leu403Pro)
c.1211T>C (p.Leu404Pro)
n.653T>C
c.590T>C (p.Leu197Pro)
c.1205T>C (p.Leu402Pro)
c.464T>C (p.Leu155Pro)
8g.11758354T>GCA370315648GATA4c.1208T>G (p.Leu403Arg)
c.1211T>G (p.Leu404Arg)
n.653T>G
c.590T>G (p.Leu197Arg)
c.1205T>G (p.Leu402Arg)
c.464T>G (p.Leu155Arg)
8g.11758355G>ACA459314098GATA4c.1209G>A (p.Leu403=)
c.1212G>A (p.Leu404=)
n.654G>A
c.591G>A (p.Leu197=)
c.1206G>A (p.Leu402=)
c.465G>A (p.Leu155=)
gnomAD v4
8g.11758355G>CCA459314099GATA4c.1209G>C (p.Leu403=)
c.1212G>C (p.Leu404=)
n.654G>C
c.591G>C (p.Leu197=)
c.1206G>C (p.Leu402=)
c.465G>C (p.Leu155=)
8g.11758355G>TCA459314100GATA4c.1209G>T (p.Leu403=)
c.1212G>T (p.Leu404=)
n.654G>T
c.591G>T (p.Leu197=)
c.1206G>T (p.Leu402=)
c.465G>T (p.Leu155=)
8g.11758356A>CCA370315649GATA4c.1210A>C (p.Lys404Gln)
c.1213A>C (p.Lys405Gln)
n.655A>C
c.592A>C (p.Lys198Gln)
c.1207A>C (p.Lys403Gln)
c.466A>C (p.Lys156Gln)
8g.11758356A>GCA370315650GATA4c.1210A>G (p.Lys404Glu)
c.1213A>G (p.Lys405Glu)
n.655A>G
c.592A>G (p.Lys198Glu)
c.1207A>G (p.Lys403Glu)
c.466A>G (p.Lys156Glu)
8g.11758356A>TCA370315651GATA4c.1210A>T (p.Lys404Ter)
c.1213A>T (p.Lys405Ter)
n.655A>T
c.592A>T (p.Lys198Ter)
c.1207A>T (p.Lys403Ter)
c.466A>T (p.Lys156Ter)
8g.11758357A>CCA370315653GATA4c.1211A>C (p.Lys404Thr)
c.1214A>C (p.Lys405Thr)
n.656A>C
c.593A>C (p.Lys198Thr)
c.1208A>C (p.Lys403Thr)
c.467A>C (p.Lys156Thr)
8g.11758357A>GCA370315654GATA4c.1211A>G (p.Lys404Arg)
c.1214A>G (p.Lys405Arg)
n.656A>G
c.593A>G (p.Lys198Arg)
c.1208A>G (p.Lys403Arg)
c.467A>G (p.Lys156Arg)
8g.11758357A>TCA370315652GATA4c.1211A>T (p.Lys404Met)
c.1214A>T (p.Lys405Met)
n.656A>T
c.593A>T (p.Lys198Met)
c.1208A>T (p.Lys403Met)
c.467A>T (p.Lys156Met)
8g.11758358G>ACA172121437GATA4c.1212G>A (p.Lys404=)
c.1215G>A (p.Lys405=)
n.657G>A
c.594G>A (p.Lys198=)
c.1209G>A (p.Lys403=)
c.468G>A (p.Lys156=)
dbSNP
8g.11758358G>CCA370315655GATA4c.1212G>C (p.Lys404Asn)
c.1215G>C (p.Lys405Asn)
n.657G>C
c.594G>C (p.Lys198Asn)
c.1209G>C (p.Lys403Asn)
c.468G>C (p.Lys156Asn)
8g.11758358G=CA1764074183GATA4c.1212G= (p.Lys404=)
c.1215G= (p.Lys405=)
n.657G=
c.594G= (p.Lys198=)
c.1209G= (p.Lys403=)
c.468G= (p.Lys156=)
8g.11758358G>TCA370315656GATA4c.1212G>T (p.Lys404Asn)
c.1215G>T (p.Lys405Asn)
n.657G>T
c.594G>T (p.Lys198Asn)
c.1209G>T (p.Lys403Asn)
c.468G>T (p.Lys156Asn)
8g.11758359C>ACA370315657GATA4c.1213C>A (p.Leu405Ile)
c.1216C>A (p.Leu406Ile)
n.658C>A
c.595C>A (p.Leu199Ile)
c.1210C>A (p.Leu404Ile)
c.469C>A (p.Leu157Ile)
8g.11758359C>GCA370315658GATA4c.1213C>G (p.Leu405Val)
c.1216C>G (p.Leu406Val)
n.658C>G
c.595C>G (p.Leu199Val)
c.1210C>G (p.Leu404Val)
c.469C>G (p.Leu157Val)
8g.11758359C>TCA370315659GATA4c.1213C>T (p.Leu405Phe)
c.1216C>T (p.Leu406Phe)
n.658C>T
c.595C>T (p.Leu199Phe)
c.1210C>T (p.Leu404Phe)
c.469C>T (p.Leu157Phe)
gnomAD v4
8g.11758360T>ACA370315660GATA4c.1214T>A (p.Leu405His)
c.1217T>A (p.Leu406His)
n.659T>A
c.596T>A (p.Leu199His)
c.1211T>A (p.Leu404His)
c.470T>A (p.Leu157His)
8g.11758360T>CCA370315661GATA4c.1214T>C (p.Leu405Pro)
c.1217T>C (p.Leu406Pro)
n.659T>C
c.596T>C (p.Leu199Pro)
c.1211T>C (p.Leu404Pro)
c.470T>C (p.Leu157Pro)
8g.11758360T>GCA370315662GATA4c.1214T>G (p.Leu405Arg)
c.1217T>G (p.Leu406Arg)
n.659T>G
c.596T>G (p.Leu199Arg)
c.1211T>G (p.Leu404Arg)
c.470T>G (p.Leu157Arg)
8g.11758361C>ACA459314105GATA4c.1215C>A (p.Leu405=)
c.1218C>A (p.Leu406=)
n.660C>A
c.597C>A (p.Leu199=)
c.1212C>A (p.Leu404=)
c.471C>A (p.Leu157=)
8g.11758361C=CA1764074185GATA4c.1215C= (p.Leu405=)
c.1218C= (p.Leu406=)
n.660C=
c.597C= (p.Leu199=)
c.1212C= (p.Leu404=)
c.471C= (p.Leu157=)
8g.11758361C>GCA459314106GATA4c.1215C>G (p.Leu405=)
c.1218C>G (p.Leu406=)
n.660C>G
c.597C>G (p.Leu199=)
c.1212C>G (p.Leu404=)
c.471C>G (p.Leu157=)
8g.11758361C>TCA4630890GATA4c.1215C>T (p.Leu405=)
c.1218C>T (p.Leu406=)
n.660C>T
c.597C>T (p.Leu199=)
c.1212C>T (p.Leu404=)
c.471C>T (p.Leu157=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.11758362T>ACA370315663GATA4c.1216T>A (p.Ser406Thr)
c.1219T>A (p.Ser407Thr)
n.661T>A
c.598T>A (p.Ser200Thr)
c.1213T>A (p.Ser405Thr)
c.472T>A (p.Ser158Thr)
8g.11758362T>CCA370315664GATA4c.1216T>C (p.Ser406Pro)
c.1219T>C (p.Ser407Pro)
n.661T>C
c.598T>C (p.Ser200Pro)
c.1213T>C (p.Ser405Pro)
c.472T>C (p.Ser158Pro)
8g.11758362T>GCA370315665GATA4c.1216T>G (p.Ser406Ala)
c.1219T>G (p.Ser407Ala)
n.661T>G
c.598T>G (p.Ser200Ala)
c.1213T>G (p.Ser405Ala)
c.472T>G (p.Ser158Ala)
8g.11758363C>ACA370315668GATA4c.1217C>A (p.Ser406Tyr)
c.1220C>A (p.Ser407Tyr)
n.662C>A
c.599C>A (p.Ser200Tyr)
c.1214C>A (p.Ser405Tyr)
c.473C>A (p.Ser158Tyr)
8g.11758363C>GCA370315667GATA4c.1217C>G (p.Ser406Cys)
c.1220C>G (p.Ser407Cys)
n.662C>G
c.599C>G (p.Ser200Cys)
c.1214C>G (p.Ser405Cys)
c.473C>G (p.Ser158Cys)
8g.11758363C>TCA370315666GATA4c.1217C>T (p.Ser406Phe)
c.1220C>T (p.Ser407Phe)
n.662C>T
c.599C>T (p.Ser200Phe)
c.1214C>T (p.Ser405Phe)
c.473C>T (p.Ser158Phe)
8g.11758364C>ACA459314110GATA4c.1218C>A (p.Ser406=)
c.1221C>A (p.Ser407=)
n.663C>A
c.600C>A (p.Ser200=)
c.1215C>A (p.Ser405=)
c.474C>A (p.Ser158=)
8g.11758364C>GCA459314111GATA4c.1218C>G (p.Ser406=)
c.1221C>G (p.Ser407=)
n.663C>G
c.600C>G (p.Ser200=)
c.1215C>G (p.Ser405=)
c.474C>G (p.Ser158=)
ClinVar dbSNP
8g.11758364C>TCA459314112GATA4c.1218C>T (p.Ser406=)
c.1221C>T (p.Ser407=)
n.663C>T
c.600C>T (p.Ser200=)
c.1215C>T (p.Ser405=)
c.474C>T (p.Ser158=)
8g.11758365C>ACA370315669GATA4c.1219C>A (p.Pro407Thr)
c.1222C>A (p.Pro408Thr)
n.664C>A
c.601C>A (p.Pro201Thr)
c.1216C>A (p.Pro406Thr)
c.475C>A (p.Pro159Thr)
8g.11758365C=CA1764074191GATA4c.1219C= (p.Pro407=)
c.1222C= (p.Pro408=)
n.664C=
c.601C= (p.Pro201=)
c.1216C= (p.Pro406=)
c.475C= (p.Pro159=)
8g.11758365C>GCA370315670GATA4c.1219C>G (p.Pro407Ala)
c.1222C>G (p.Pro408Ala)
n.664C>G
c.601C>G (p.Pro201Ala)
c.1216C>G (p.Pro406Ala)
c.475C>G (p.Pro159Ala)
ClinVar dbSNP
8g.11758365C>TCA370315671GATA4c.1219C>T (p.Pro407Ser)
c.1222C>T (p.Pro408Ser)
n.664C>T
c.601C>T (p.Pro201Ser)
c.1216C>T (p.Pro406Ser)
c.475C>T (p.Pro159Ser)
dbSNP
8g.11758366C>ACA212683GATA4c.1220C>A (p.Pro407Gln)
c.1223C>A (p.Pro408Gln)
n.665C>A
c.602C>A (p.Pro201Gln)
c.1217C>A (p.Pro406Gln)
c.476C>A (p.Pro159Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11758366C=CA1764074197GATA4c.1220C= (p.Pro407=)
c.1223C= (p.Pro408=)
n.665C=
c.602C= (p.Pro201=)
c.1217C= (p.Pro406=)
c.476C= (p.Pro159=)
8g.11758366C>GCA4630891GATA4c.1220C>G (p.Pro407Arg)
c.1223C>G (p.Pro408Arg)
n.665C>G
c.602C>G (p.Pro201Arg)
c.1217C>G (p.Pro406Arg)
c.476C>G (p.Pro159Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.11758366C>TCA370315672GATA4c.1220C>T (p.Pro407Leu)
c.1223C>T (p.Pro408Leu)
n.665C>T
c.602C>T (p.Pro201Leu)
c.1217C>T (p.Pro406Leu)
c.476C>T (p.Pro159Leu)
8g.11758367A=CA1764074204GATA4c.1221A= (p.Pro407=)
c.1224A= (p.Pro408=)
n.666A=
c.603A= (p.Pro201=)
c.1218A= (p.Pro406=)
c.477A= (p.Pro159=)
8g.11758367A>CCA4630892GATA4c.1221A>C (p.Pro407=)
c.1224A>C (p.Pro408=)
n.666A>C
c.603A>C (p.Pro201=)
c.1218A>C (p.Pro406=)
c.477A>C (p.Pro159=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11758367A>GCA459314117GATA4c.1221A>G (p.Pro407=)
c.1224A>G (p.Pro408=)
n.666A>G
c.603A>G (p.Pro201=)
c.1218A>G (p.Pro406=)
c.477A>G (p.Pro159=)
ClinVar dbSNP gnomAD v4
8g.11758367A>TCA459314116GATA4c.1221A>T (p.Pro407=)
c.1224A>T (p.Pro408=)
n.666A>T
c.603A>T (p.Pro201=)
c.1218A>T (p.Pro406=)
c.477A>T (p.Pro159=)
8g.11758368C>ACA370315673GATA4c.1222C>A (p.Gln408Lys)
c.1225C>A (p.Gln409Lys)
n.667C>A
c.604C>A (p.Gln202Lys)
c.1219C>A (p.Gln407Lys)
c.478C>A (p.Gln160Lys)
8g.11758368C=CA1764074209GATA4c.1222C= (p.Gln408=)
c.1225C= (p.Gln409=)
n.667C=
c.604C= (p.Gln202=)
c.1219C= (p.Gln407=)
c.478C= (p.Gln160=)
8g.11758368C>GCA370315674GATA4c.1222C>G (p.Gln408Glu)
c.1225C>G (p.Gln409Glu)
n.667C>G
c.604C>G (p.Gln202Glu)
c.1219C>G (p.Gln407Glu)
c.478C>G (p.Gln160Glu)
8g.11758368C>TCA370315675GATA4c.1222C>T (p.Gln408Ter)
c.1225C>T (p.Gln409Ter)
n.667C>T
c.604C>T (p.Gln202Ter)
c.1219C>T (p.Gln407Ter)
c.478C>T (p.Gln160Ter)
ClinVar dbSNP
8g.11758369A>CCA370315676GATA4c.1223A>C (p.Gln408Pro)
c.1226A>C (p.Gln409Pro)
n.668A>C
c.605A>C (p.Gln202Pro)
c.1220A>C (p.Gln407Pro)
c.479A>C (p.Gln160Pro)
8g.11758369A>GCA370315677GATA4c.1223A>G (p.Gln408Arg)
c.1226A>G (p.Gln409Arg)
n.668A>G
c.605A>G (p.Gln202Arg)
c.1220A>G (p.Gln407Arg)
c.479A>G (p.Gln160Arg)
8g.11758369A>TCA370315678GATA4c.1223A>T (p.Gln408Leu)
c.1226A>T (p.Gln409Leu)
n.668A>T
c.605A>T (p.Gln202Leu)
c.1220A>T (p.Gln407Leu)
c.479A>T (p.Gln160Leu)
8g.11758370A>CCA370315680GATA4c.1224A>C (p.Gln408His)
c.1227A>C (p.Gln409His)
n.669A>C
c.606A>C (p.Gln202His)
c.1221A>C (p.Gln407His)
c.480A>C (p.Gln160His)
8g.11758370A>GCA459314118GATA4c.1224A>G (p.Gln408=)
c.1227A>G (p.Gln409=)
n.669A>G
c.606A>G (p.Gln202=)
c.1221A>G (p.Gln407=)
c.480A>G (p.Gln160=)
8g.11758370A>TCA370315679GATA4c.1224A>T (p.Gln408His)
c.1227A>T (p.Gln409His)
n.669A>T
c.606A>T (p.Gln202His)
c.1221A>T (p.Gln407His)
c.480A>T (p.Gln160His)
8g.11758371G>ACA370315681GATA4c.1225G>A (p.Gly409Ser)
c.1228G>A (p.Gly410Ser)
n.670G>A
c.607G>A (p.Gly203Ser)
c.1222G>A (p.Gly408Ser)
c.481G>A (p.Gly161Ser)
8g.11758371G>CCA370315683GATA4c.1225G>C (p.Gly409Arg)
c.1228G>C (p.Gly410Arg)
n.670G>C
c.607G>C (p.Gly203Arg)
c.1222G>C (p.Gly408Arg)
c.481G>C (p.Gly161Arg)
gnomAD v4
8g.11758371G>TCA370315682GATA4c.1225G>T (p.Gly409Cys)
c.1228G>T (p.Gly410Cys)
n.670G>T
c.607G>T (p.Gly203Cys)
c.1222G>T (p.Gly408Cys)
c.481G>T (p.Gly161Cys)
8g.11758372G>ACA370315684GATA4c.1226G>A (p.Gly409Asp)
c.1229G>A (p.Gly410Asp)
n.671G>A
c.608G>A (p.Gly203Asp)
c.1223G>A (p.Gly408Asp)
c.482G>A (p.Gly161Asp)
gnomAD v4
8g.11758372G>CCA370315686GATA4c.1226G>C (p.Gly409Ala)
c.1229G>C (p.Gly410Ala)
n.671G>C
c.608G>C (p.Gly203Ala)
c.1223G>C (p.Gly408Ala)
c.482G>C (p.Gly161Ala)
gnomAD v4
8g.11758372G>TCA370315685GATA4c.1226G>T (p.Gly409Val)
c.1229G>T (p.Gly410Val)
n.671G>T
c.608G>T (p.Gly203Val)
c.1223G>T (p.Gly408Val)
c.482G>T (p.Gly161Val)
8g.11758373C>ACA459314120GATA4c.1227C>A (p.Gly409=)
c.1230C>A (p.Gly410=)
n.672C>A
c.609C>A (p.Gly203=)
c.1224C>A (p.Gly408=)
c.483C>A (p.Gly161=)
8g.11758373C>GCA459314122GATA4c.1227C>G (p.Gly409=)
c.1230C>G (p.Gly410=)
n.672C>G
c.609C>G (p.Gly203=)
c.1224C>G (p.Gly408=)
c.483C>G (p.Gly161=)
8g.11758373C>TCA459314121GATA4c.1227C>T (p.Gly409=)
c.1230C>T (p.Gly410=)
n.672C>T
c.609C>T (p.Gly203=)
c.1224C>T (p.Gly408=)
c.483C>T (p.Gly161=)
gnomAD v4
8g.11758374T>ACA370315687GATA4c.1228T>A (p.Tyr410Asn)
c.1231T>A (p.Tyr411Asn)
n.673T>A
c.610T>A (p.Tyr204Asn)
c.1225T>A (p.Tyr409Asn)
c.484T>A (p.Tyr162Asn)
8g.11758374T>CCA4630893GATA4c.1228T>C (p.Tyr410His)
c.1231T>C (p.Tyr411His)
n.673T>C
c.610T>C (p.Tyr204His)
c.1225T>C (p.Tyr409His)
c.484T>C (p.Tyr162His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11758374T>GCA370315688GATA4c.1228T>G (p.Tyr410Asp)
c.1231T>G (p.Tyr411Asp)
n.673T>G
c.610T>G (p.Tyr204Asp)
c.1225T>G (p.Tyr409Asp)
c.484T>G (p.Tyr162Asp)
8g.11758374T=CA1764074213GATA4c.1228T= (p.Tyr410=)
c.1231T= (p.Tyr411=)
n.673T=
c.610T= (p.Tyr204=)
c.1225T= (p.Tyr409=)
c.484T= (p.Tyr162=)
8g.11758375A=CA1764074223GATA4c.1229A= (p.Tyr410=)
c.1232A= (p.Tyr411=)
n.674A=
c.611A= (p.Tyr204=)
c.1226A= (p.Tyr409=)
c.485A= (p.Tyr162=)
8g.11758375A>CCA370315689GATA4c.1229A>C (p.Tyr410Ser)
c.1232A>C (p.Tyr411Ser)
n.674A>C
c.611A>C (p.Tyr204Ser)
c.1226A>C (p.Tyr409Ser)
c.485A>C (p.Tyr162Ser)
8g.11758375A>GCA370315690GATA4c.1229A>G (p.Tyr410Cys)
c.1232A>G (p.Tyr411Cys)
n.674A>G
c.611A>G (p.Tyr204Cys)
c.1226A>G (p.Tyr409Cys)
c.485A>G (p.Tyr162Cys)
ClinVar dbSNP gnomAD v3 gnomAD v4
8g.11758375A>TCA172121445GATA4c.1229A>T (p.Tyr410Phe)
c.1232A>T (p.Tyr411Phe)
n.674A>T
c.611A>T (p.Tyr204Phe)
c.1226A>T (p.Tyr409Phe)
c.485A>T (p.Tyr162Phe)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11758376T>ACA370315691GATA4c.1230T>A (p.Tyr410Ter)
c.1233T>A (p.Tyr411Ter)
n.675T>A
c.612T>A (p.Tyr204Ter)
c.1227T>A (p.Tyr409Ter)
c.486T>A (p.Tyr162Ter)
8g.11758376T>CCA459314128GATA4c.1230T>C (p.Tyr410=)
c.1233T>C (p.Tyr411=)
n.675T>C
c.612T>C (p.Tyr204=)
c.1227T>C (p.Tyr409=)
c.486T>C (p.Tyr162=)
gnomAD v4
8g.11758376T>GCA370315692GATA4c.1230T>G (p.Tyr410Ter)
c.1233T>G (p.Tyr411Ter)
n.675T>G
c.612T>G (p.Tyr204Ter)
c.1227T>G (p.Tyr409Ter)
c.486T>G (p.Tyr162Ter)
8g.11758377G>ACA370315693GATA4c.1231G>A (p.Ala411Thr)
c.1234G>A (p.Ala412Thr)
n.676G>A
c.613G>A (p.Ala205Thr)
c.1228G>A (p.Ala410Thr)
c.487G>A (p.Ala163Thr)
8g.11758377G>CCA370315694GATA4c.1231G>C (p.Ala411Pro)
c.1234G>C (p.Ala412Pro)
n.676G>C
c.613G>C (p.Ala205Pro)
c.1228G>C (p.Ala410Pro)
c.487G>C (p.Ala163Pro)
8g.11758377G>TCA370315695GATA4c.1231G>T (p.Ala411Ser)
c.1234G>T (p.Ala412Ser)
n.676G>T
c.613G>T (p.Ala205Ser)
c.1228G>T (p.Ala410Ser)
c.487G>T (p.Ala163Ser)
8g.11758378C>ACA370315696GATA4c.1232C>A (p.Ala411Glu)
c.1235C>A (p.Ala412Glu)
n.677C>A
c.614C>A (p.Ala205Glu)
c.1229C>A (p.Ala410Glu)
c.488C>A (p.Ala163Glu)
8g.11758378C=CA1764074232GATA4c.1232C= (p.Ala411=)
c.1235C= (p.Ala412=)
n.677C=
c.614C= (p.Ala205=)
c.1229C= (p.Ala410=)
c.488C= (p.Ala163=)
8g.11758378C>GCA370315697GATA4c.1232C>G (p.Ala411Gly)
c.1235C>G (p.Ala412Gly)
n.677C>G
c.614C>G (p.Ala205Gly)
c.1229C>G (p.Ala410Gly)
c.488C>G (p.Ala163Gly)
8g.11758378C>TCA4630894GATA4c.1232C>T (p.Ala411Val)
c.1235C>T (p.Ala412Val)
n.677C>T
c.614C>T (p.Ala205Val)
c.1229C>T (p.Ala410Val)
c.488C>T (p.Ala163Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.11758379G>ACA4630895GATA4c.1233G>A (p.Ala411=)
c.1236G>A (p.Ala412=)
n.678G>A
c.615G>A (p.Ala205=)
c.1230G>A (p.Ala410=)
c.489G>A (p.Ala163=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.11758379G>CCA459314135GATA4c.1233G>C (p.Ala411=)
c.1236G>C (p.Ala412=)
n.678G>C
c.615G>C (p.Ala205=)
c.1230G>C (p.Ala410=)
c.489G>C (p.Ala163=)
8g.11758379G=CA1764074237GATA4c.1233G= (p.Ala411=)
c.1236G= (p.Ala412=)
n.678G=
c.615G= (p.Ala205=)
c.1230G= (p.Ala410=)
c.489G= (p.Ala163=)
8g.11758379G>TCA459314137GATA4c.1233G>T (p.Ala411=)
c.1236G>T (p.Ala412=)
n.678G>T
c.615G>T (p.Ala205=)
c.1230G>T (p.Ala410=)
c.489G>T (p.Ala163=)
gnomAD v4
8g.11758380delCA2579823151GATA4c.1234del (p.Ser412LeufsTer28)
c.1237del (p.Ser413LeufsTer28)
n.679del
c.616del (p.Ser206LeufsTer28)
c.1231del (p.Ser411LeufsTer28)
c.490del (p.Ser164LeufsTer28)
8g.11758380T>ACA370315698GATA4c.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)
8g.11758380T>CCA370315699GATA4c.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)
8g.11758380T>GCA370315700GATA4c.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)
8g.11758381C>ACA370315701GATA4c.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)
8g.11758381C=CA1764074243GATA4c.1235C= (p.Ser412=)
c.1238C= (p.Ser413=)
n.680C=
c.617C= (p.Ser206=)
c.1232C= (p.Ser411=)
c.491C= (p.Ser164=)
8g.11758381C>GCA4630896GATA4c.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
8g.11758381C>TCA370315702GATA4c.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)
8g.11758382_11758391delCA2695208951GATA4c.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)
8g.11758382T>ACA459314156GATA4c.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=)
8g.11758382T>CCA459314158GATA4c.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
8g.11758382T>GCA459314160GATA4c.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=)
8g.11758382T=CA1764074247GATA4c.1236T= (p.Ser412=)
c.1239T= (p.Ser413=)
n.681T=
c.618T= (p.Ser206=)
c.1233T= (p.Ser411=)
c.492T= (p.Ser164=)
8g.11758383C>ACA370315703GATA4c.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
8g.11758383C=CA1764074250GATA4c.1237C= (p.Pro413=)
c.1240C= (p.Pro414=)
n.682C=
c.619C= (p.Pro207=)
c.1234C= (p.Pro412=)
c.493C= (p.Pro165=)
8g.11758383C>GCA370315704GATA4c.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
8g.11758383C>TCA370315705GATA4c.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)
8g.11758384C>ACA370315706GATA4c.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)
8g.11758384C=CA1764074255GATA4c.1238C= (p.Pro413=)
c.1241C= (p.Pro414=)
n.683C=
c.620C= (p.Pro207=)
c.1235C= (p.Pro412=)
c.494C= (p.Pro165=)
8g.11758384C>GCA370315707GATA4c.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
8g.11758384C>TCA4630897GATA4c.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
8g.11758385C>ACA459314172GATA4c.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
8g.11758385C=CA1764074260GATA4c.1239C= (p.Pro413=)
c.1242C= (p.Pro414=)
n.684C=
c.621C= (p.Pro207=)
c.1236C= (p.Pro412=)
c.495C= (p.Pro165=)
8g.11758385C>GCA459314174GATA4c.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=)
8g.11758385C>TCA4630898GATA4c.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
8g.11758386G>ACA172121463GATA4c.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
8g.11758386G>CCA370315709GATA4c.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
8g.11758386G=CA1764074262GATA4c.1240G= (p.Val414=)
c.1243G= (p.Val415=)
n.685G=
c.622G= (p.Val208=)
c.1237G= (p.Val413=)
c.496G= (p.Val166=)
8g.11758386G>TCA370315708GATA4c.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
8g.11758387T>ACA370315710GATA4c.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)
8g.11758387T>CCA370315711GATA4c.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
8g.11758387T>GCA370315712GATA4c.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)
8g.11758387T=CA1764074265GATA4c.1241T= (p.Val414=)
c.1244T= (p.Val415=)
n.686T=
c.623T= (p.Val208=)
c.1238T= (p.Val413=)
c.497T= (p.Val166=)
8g.11758388C>ACA459314195GATA4c.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=)
8g.11758388C>GCA459314198GATA4c.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=)
8g.11758388C>TCA459314194GATA4c.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
8g.11758389A>CCA370315713GATA4c.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)
8g.11758389A>GCA370315714GATA4c.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)
8g.11758389A>TCA370315715GATA4c.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)
8g.11758390G>ACA370315716GATA4c.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
8g.11758390G>CCA370315717GATA4c.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)
8g.11758390G>TCA370315718GATA4c.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
8g.11758391C>ACA370315719GATA4c.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)
8g.11758391C>GCA370315720GATA4c.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)
8g.11758391C>TCA459314216GATA4c.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
8g.11758392C>ACA370315723GATA4c.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)
8g.11758392C>GCA370315722GATA4c.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)
8g.11758392C>TCA370315721GATA4c.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
8g.11758393A=CA1764074267GATA4c.1247A= (p.Gln416=)
c.1250A= (p.Gln417=)
n.692A=
c.629A= (p.Gln210=)
c.1244A= (p.Gln415=)
c.503A= (p.Gln168=)
8g.11758393A>CCA4630899GATA4c.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
8g.11758393A>GCA370315724GATA4c.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)
8g.11758393A>TCA370315725GATA4c.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)
8g.11758394G>ACA459314231GATA4c.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=)
8g.11758394G>CCA370315726GATA4c.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)
8g.11758394G>TCA370315727GATA4c.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)
8g.11758395T>ACA370315728GATA4c.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)
8g.11758395T>CCA370315729GATA4c.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)
8g.11758395T>GCA370315730GATA4c.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
8g.11758395T=CA1764074271GATA4c.1249T= (p.Ser417=)
c.1252T= (p.Ser418=)
n.694T=
c.631T= (p.Ser211=)
c.1246T= (p.Ser416=)
c.505T= (p.Ser169=)
8g.11758396C>ACA370315731GATA4c.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)
8g.11758396C>GCA370315732GATA4c.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
8g.11758396C>TCA370315733GATA4c.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)
8g.11758397T>ACA459314252GATA4c.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
8g.11758397T>CCA16612201GATA4c.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
8g.11758397T>GCA459314256GATA4c.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=)
8g.11758397T=CA1764074272GATA4c.1251T= (p.Ser417=)
c.1254T= (p.Ser418=)
n.696T=
c.633T= (p.Ser211=)
c.1248T= (p.Ser416=)
c.507T= (p.Ser169=)
8g.11758398C>ACA370315736GATA4c.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
8g.11758398C>GCA370315735GATA4c.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)
8g.11758398C>TCA370315734GATA4c.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
8g.11758399C>ACA370315737GATA4c.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
8g.11758399C=CA1764074276GATA4c.1253C= (p.Pro418=)
c.1256C= (p.Pro419=)
n.698C=
c.635C= (p.Pro212=)
c.1250C= (p.Pro417=)
c.509C= (p.Pro170=)
8g.11758399C>GCA370315738GATA4c.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)
8g.11758399C>TCA4630900GATA4c.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
8g.11758400A>CCA459314277GATA4c.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=)
8g.11758400A>GCA459314278GATA4c.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
8g.11758400A>TCA459314280GATA4c.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=)
8g.11758401C>ACA370315739GATA4c.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)
8g.11758401C>GCA370315740GATA4c.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
8g.11758401C>TCA370315741GATA4c.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)
8g.11758402A>CCA370315744GATA4c.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)
8g.11758402A>GCA370315742GATA4c.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)
8g.11758402A>TCA370315743GATA4c.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
8g.11758403G>ACA459314299GATA4c.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
8g.11758403G>CCA370315745GATA4c.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
8g.11758403G=CA1764074278GATA4c.1257G= (p.Gln419=)
c.1260G= (p.Gln420=)
n.702G=
c.639G= (p.Gln213=)
c.1254G= (p.Gln418=)
c.513G= (p.Gln171=)
8g.11758403G>TCA370315746GATA4c.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)
8g.11758404A>CCA370315747GATA4c.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)
8g.11758404A>GCA370315748GATA4c.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)
8g.11758404A>TCA370315749GATA4c.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)
8g.11758405C>ACA4630901GATA4c.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
8g.11758405C=CA1764074283GATA4c.1259C= (p.Thr420=)
c.1262C= (p.Thr421=)
n.704C=
c.641C= (p.Thr214=)
c.1256C= (p.Thr419=)
c.515C= (p.Thr172=)
8g.11758405C>GCA370315750GATA4c.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
8g.11758405C>TCA370315751GATA4c.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
8g.11758406delCA2585379422GATA4c.1260del (p.Ser421AlafsTer19)
c.1263del (p.Ser422AlafsTer19)
n.705del
c.642del (p.Ser215AlafsTer19)
c.1257del (p.Ser420AlafsTer19)
c.516del (p.Ser173AlafsTer19)
8g.11758406C>ACA459314312GATA4c.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=)
8g.11758406C>GCA459314315GATA4c.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=)
8g.11758406C>TCA459314317GATA4c.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
8g.11758407A>CCA370315752GATA4c.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)
8g.11758407A>GCA370315753GATA4c.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)
8g.11758407A>TCA370315754GATA4c.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)
8g.11758408G>ACA370315755GATA4c.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)
8g.11758408G>CCA370315756GATA4c.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)
8g.11758408G>TCA370315757GATA4c.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)
8g.11758409C>ACA370315758GATA4c.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
8g.11758409C=CA1764074287GATA4c.1263C= (p.Ser421=)
c.1266C= (p.Ser422=)
n.708C=
c.645C= (p.Ser215=)
c.1260C= (p.Ser420=)
c.519C= (p.Ser173=)
8g.11758409C>GCA370315759GATA4c.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)
8g.11758409C>TCA347948GATA4c.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
8g.11758410T>ACA370315760GATA4c.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)
8g.11758410T>CCA370315761GATA4c.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)
8g.11758410T>GCA370315762GATA4c.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)
8g.11758411C>ACA370315763GATA4c.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
8g.11758411C=CA1764074294GATA4c.1265C= (p.Ser422=)
c.1268C= (p.Ser423=)
n.710C=
c.647C= (p.Ser216=)
c.1262C= (p.Ser421=)
c.521C= (p.Ser174=)
8g.11758411C>GCA370315765GATA4c.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
8g.11758411C>TCA370315764GATA4c.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
8g.11758412C>ACA459314348GATA4c.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=)
8g.11758412C>GCA459314351GATA4c.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=)
8g.11758412C>TCA459314354GATA4c.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=)
8g.11758413A>CCA370315766GATA4c.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)
8g.11758413A>GCA370315767GATA4c.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
8g.11758413A>TCA370315768GATA4c.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)
8g.11758414A>CCA370315769GATA4c.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)
8g.11758414A>GCA370315770GATA4c.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
8g.11758414A>TCA370315771GATA4c.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
8g.11758415G>ACA459314367GATA4c.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=)
8g.11758415G>CCA370315772GATA4c.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)
8g.11758415G>TCA370315773GATA4c.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)
8g.11758416C>ACA370315774GATA4c.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)
8g.11758416C=CA1764074300GATA4c.1270C= (p.Gln424=)
c.1273C= (p.Gln425=)
n.715C=
c.652C= (p.Gln218=)
c.1267C= (p.Gln423=)
c.526C= (p.Gln176=)
8g.11758416C>GCA370315775GATA4c.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)
8g.11758416C>TCA370315776GATA4c.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
8g.11758417A>CCA370315779GATA4c.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)
8g.11758417A>GCA370315778GATA4c.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)
8g.11758417A>TCA370315777GATA4c.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)
8g.11758418G>ACA459314378GATA4c.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=)
8g.11758418G>CCA370315780GATA4c.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
8g.11758418G=CA1764074303GATA4c.1272G= (p.Gln424=)
c.1275G= (p.Gln425=)
n.717G=
c.654G= (p.Gln218=)
c.1269G= (p.Gln423=)
c.528G= (p.Gln176=)
8g.11758418G>TCA370315781GATA4c.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)
8g.11758419G>ACA204708GATA4c.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
8g.11758419G>CCA370315782GATA4c.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)
8g.11758419G=CA1764074306GATA4c.1273G= (p.Asp425=)
c.1276G= (p.Asp426=)
n.718G=
c.655G= (p.Asp219=)
c.1270G= (p.Asp424=)
c.529G= (p.Asp177=)
8g.11758419G>TCA172121496GATA4c.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
8g.11758420A>CCA370315783GATA4c.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)
8g.11758420A>GCA370315784GATA4c.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
8g.11758420A>TCA370315785GATA4c.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)
8g.11758421C>ACA370315786GATA4c.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)
8g.11758421C=CA1764074310GATA4c.1275C= (p.Asp425=)
c.1278C= (p.Asp426=)
n.720C=
c.657C= (p.Asp219=)
c.1272C= (p.Asp424=)
c.531C= (p.Asp177=)
8g.11758421C>GCA370315787GATA4c.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)
8g.11758421C>TCA459314390GATA4c.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
8g.11758422T>ACA370315788GATA4c.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)
8g.11758422T>CCA370315789GATA4c.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)
8g.11758422T>GCA370315790GATA4c.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)
8g.11758423C>ACA370315792GATA4c.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)
8g.11758423C>GCA370315793GATA4c.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)
8g.11758423C>TCA370315791GATA4c.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)
8g.11758424T>ACA459314399GATA4c.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=)
8g.11758424T>CCA459314400GATA4c.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
8g.11758424T>GCA459314402GATA4c.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=)
8g.11758424T=CA1764074312GATA4c.1278T= (p.Ser426=)
c.1281T= (p.Ser427=)
n.723T=
c.660T= (p.Ser220=)
c.1275T= (p.Ser425=)
c.534T= (p.Ser178=)
8g.11758425T>ACA370315795GATA4c.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)
8g.11758425T>CCA370315794GATA4c.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)
8g.11758425T>GCA370315796GATA4c.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)
8g.11758426G>ACA370315797GATA4c.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
8g.11758426G>CCA370315798GATA4c.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)
8g.11758426G>TCA370315799GATA4c.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)
8g.11758427G>ACA370315800GATA4c.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
8g.11758427G>CCA370315801GATA4c.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)
8g.11758427G=CA1764074315GATA4c.1281G= (p.Trp427=)
c.1284G= (p.Trp428=)
n.726G=
c.663G= (p.Trp221=)
c.1278G= (p.Trp426=)
c.537G= (p.Trp179=)
8g.11758427G>TCA370315802GATA4c.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)

Number of alleles fetched