Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.11758321A= | CA1764074119 | GATA4 | c.1175A= (p.His392=) c.1178A= (p.His393=) n.620A= c.557A= (p.His186=) c.1172A= (p.His391=) c.431A= (p.His144=) | |
8 | g.11758321A>C | CA4630883 | GATA4 | c.1175A>C (p.His392Pro) c.1178A>C (p.His393Pro) n.620A>C c.557A>C (p.His186Pro) c.1172A>C (p.His391Pro) c.431A>C (p.His144Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11758321A>G | CA172121414 | GATA4 | c.1175A>G (p.His392Arg) c.1178A>G (p.His393Arg) n.620A>G c.557A>G (p.His186Arg) c.1172A>G (p.His391Arg) c.431A>G (p.His144Arg) | ClinVar dbSNP gnomAD v4 |
8 | g.11758321A>T | CA370315583 | GATA4 | c.1175A>T (p.His392Leu) c.1178A>T (p.His393Leu) n.620A>T c.557A>T (p.His186Leu) c.1172A>T (p.His391Leu) c.431A>T (p.His144Leu) | ClinVar |
8 | g.11758322T>A | CA370315584 | GATA4 | c.1176T>A (p.His392Gln) c.1179T>A (p.His393Gln) n.621T>A c.558T>A (p.His186Gln) c.1173T>A (p.His391Gln) c.432T>A (p.His144Gln) | |
8 | g.11758322T>C | CA459314050 | GATA4 | c.1176T>C (p.His392=) c.1179T>C (p.His393=) n.621T>C c.558T>C (p.His186=) c.1173T>C (p.His391=) c.432T>C (p.His144=) | gnomAD v4 |
8 | g.11758322T>G | CA370315585 | GATA4 | c.1176T>G (p.His392Gln) c.1179T>G (p.His393Gln) n.621T>G c.558T>G (p.His186Gln) c.1173T>G (p.His391Gln) c.432T>G (p.His144Gln) | |
8 | g.11758323G>A | CA370315588 | GATA4 | c.1177G>A (p.Gly393Arg) c.1180G>A (p.Gly394Arg) n.622G>A c.559G>A (p.Gly187Arg) c.1174G>A (p.Gly392Arg) c.433G>A (p.Gly145Arg) | COSMIC |
8 | g.11758323G>C | CA370315586 | GATA4 | c.1177G>C (p.Gly393Arg) c.1180G>C (p.Gly394Arg) n.622G>C c.559G>C (p.Gly187Arg) c.1174G>C (p.Gly392Arg) c.433G>C (p.Gly145Arg) | |
8 | g.11758323G>T | CA370315587 | GATA4 | c.1177G>T (p.Gly393Trp) c.1180G>T (p.Gly394Trp) n.622G>T c.559G>T (p.Gly187Trp) c.1174G>T (p.Gly392Trp) c.433G>T (p.Gly145Trp) | |
8 | g.11758324G>A | CA172121418 | GATA4 | c.1178G>A (p.Gly393Glu) c.1181G>A (p.Gly394Glu) n.623G>A c.560G>A (p.Gly187Glu) c.1175G>A (p.Gly392Glu) c.434G>A (p.Gly145Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11758324G>C | CA370315589 | GATA4 | c.1178G>C (p.Gly393Ala) c.1181G>C (p.Gly394Ala) n.623G>C c.560G>C (p.Gly187Ala) c.1175G>C (p.Gly392Ala) c.434G>C (p.Gly145Ala) | |
8 | g.11758324G= | CA1764074120 | GATA4 | c.1178G= (p.Gly393=) c.1181G= (p.Gly394=) n.623G= c.560G= (p.Gly187=) c.1175G= (p.Gly392=) c.434G= (p.Gly145=) | |
8 | g.11758324G>T | CA370315590 | GATA4 | c.1178G>T (p.Gly393Val) c.1181G>T (p.Gly394Val) n.623G>T c.560G>T (p.Gly187Val) c.1175G>T (p.Gly392Val) c.434G>T (p.Gly145Val) | ClinVar gnomAD v4 |
8 | g.11758325G>A | CA459314052 | GATA4 | c.1179G>A (p.Gly393=) c.1182G>A (p.Gly394=) n.624G>A c.561G>A (p.Gly187=) c.1176G>A (p.Gly392=) c.435G>A (p.Gly145=) | |
8 | g.11758325G>C | CA459314053 | GATA4 | c.1179G>C (p.Gly393=) c.1182G>C (p.Gly394=) n.624G>C c.561G>C (p.Gly187=) c.1176G>C (p.Gly392=) c.435G>C (p.Gly145=) | |
8 | g.11758325G>T | CA459314054 | GATA4 | c.1179G>T (p.Gly393=) c.1182G>T (p.Gly394=) n.624G>T c.561G>T (p.Gly187=) c.1176G>T (p.Gly392=) c.435G>T (p.Gly145=) | gnomAD v4 |
8 | g.11758326C>A | CA4630884 | GATA4 | c.1180C>A (p.Pro394Thr) c.1183C>A (p.Pro395Thr) n.625C>A c.562C>A (p.Pro188Thr) c.1177C>A (p.Pro393Thr) c.436C>A (p.Pro146Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11758326C= | CA1764074121 | GATA4 | c.1180C= (p.Pro394=) c.1183C= (p.Pro395=) n.625C= c.562C= (p.Pro188=) c.1177C= (p.Pro393=) c.436C= (p.Pro146=) | |
8 | g.11758326C>G | CA370315591 | GATA4 | c.1180C>G (p.Pro394Ala) c.1183C>G (p.Pro395Ala) n.625C>G c.562C>G (p.Pro188Ala) c.1177C>G (p.Pro393Ala) c.436C>G (p.Pro146Ala) | |
8 | g.11758326C>T | CA370315592 | GATA4 | c.1180C>T (p.Pro394Ser) c.1183C>T (p.Pro395Ser) n.625C>T c.562C>T (p.Pro188Ser) c.1177C>T (p.Pro393Ser) c.436C>T (p.Pro146Ser) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.11758327C>A | CA370315593 | GATA4 | c.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) | |
8 | g.11758327C>G | CA370315594 | GATA4 | c.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 |
8 | g.11758327C>T | CA370315595 | GATA4 | c.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) | |
8 | g.11758327_11758330delinsCCTC | CA1764074122 | GATA4 | c.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=) | |
8 | g.11758328C>A | CA459314056 | GATA4 | c.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=) | |
8 | g.11758328C= | CA1764074126 | GATA4 | c.1182C= (p.Pro394=) c.1185C= (p.Pro395=) n.627C= c.564C= (p.Pro188=) c.1179C= (p.Pro393=) c.438C= (p.Pro146=) | |
8 | g.11758328C>G | CA459314058 | GATA4 | c.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 |
8 | g.11758328C>T | CA459314059 | GATA4 | c.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 |
8 | g.11758328_11758330delinsTG | CA915945610 | GATA4 | c.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 |
8 | g.11758329T>A | CA370315596 | GATA4 | c.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) | |
8 | g.11758329T>C | CA370315597 | GATA4 | c.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) | |
8 | g.11758329T>G | CA370315598 | GATA4 | c.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) | |
8 | g.11758330C>A | CA370315599 | GATA4 | c.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 |
8 | g.11758330C>G | CA370315601 | GATA4 | c.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 |
8 | g.11758330C>T | CA370315600 | GATA4 | c.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) | |
8 | g.11758331C>A | CA4630885 | GATA4 | c.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 |
8 | g.11758331C= | CA1764074128 | GATA4 | c.1185C= (p.Ser395=) c.1188C= (p.Ser396=) n.630C= c.567C= (p.Ser189=) c.1182C= (p.Ser394=) c.441C= (p.Ser147=) | |
8 | g.11758331C>G | CA459314062 | GATA4 | c.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=) | |
8 | g.11758331C>T | CA459314063 | GATA4 | c.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 |
8 | g.11758332A= | CA1764074131 | GATA4 | c.1186A= (p.Ile396=) c.1189A= (p.Ile397=) n.631A= c.568A= (p.Ile190=) c.1183A= (p.Ile395=) c.442A= (p.Ile148=) | |
8 | g.11758332A>C | CA370315602 | GATA4 | c.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) | |
8 | g.11758332A>G | CA370315603 | GATA4 | c.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 |
8 | g.11758332A>T | CA370315604 | GATA4 | c.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) | |
8 | g.11758333T>A | CA370315605 | GATA4 | c.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) | |
8 | g.11758333T>C | CA370315606 | GATA4 | c.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) | |
8 | g.11758333T>G | CA370315607 | GATA4 | c.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) | |
8 | g.11758334C>A | CA459314066 | GATA4 | c.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=) | |
8 | g.11758334C>G | CA370315608 | GATA4 | c.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) | |
8 | g.11758334C>T | CA459314067 | GATA4 | c.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 |
8 | g.11758335C>A | CA370315609 | GATA4 | c.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) | |
8 | g.11758335C= | CA1764074133 | GATA4 | c.1189C= (p.His397=) c.1192C= (p.His398=) n.634C= c.571C= (p.His191=) c.1186C= (p.His396=) c.445C= (p.His149=) | |
8 | g.11758335C>G | CA370315610 | GATA4 | c.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) | |
8 | g.11758335C>T | CA370315611 | GATA4 | c.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 |
8 | g.11758336A= | CA1764074136 | GATA4 | c.1190A= (p.His397=) c.1193A= (p.His398=) n.635A= c.572A= (p.His191=) c.1187A= (p.His396=) c.446A= (p.His149=) | |
8 | g.11758336A>C | CA370315614 | GATA4 | c.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 |
8 | g.11758336A>G | CA370315613 | GATA4 | c.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) | |
8 | g.11758336A>T | CA370315612 | GATA4 | c.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) | |
8 | g.11758337C>A | CA370315615 | GATA4 | c.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) | |
8 | g.11758337C>G | CA370315616 | GATA4 | c.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) | |
8 | g.11758337C>T | CA459314069 | GATA4 | c.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=) | |
8 | g.11758338C>A | CA370315617 | GATA4 | c.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) | |
8 | g.11758338C>G | CA370315618 | GATA4 | c.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) | |
8 | g.11758338C>T | CA370315619 | GATA4 | c.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 |
8 | g.11758339C>A | CA370315620 | GATA4 | c.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 |
8 | g.11758339C= | CA1764074139 | GATA4 | c.1193C= (p.Pro398=) c.1196C= (p.Pro399=) n.638C= c.575C= (p.Pro192=) c.1190C= (p.Pro397=) c.449C= (p.Pro150=) | |
8 | g.11758339C>G | CA370315621 | GATA4 | c.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) | |
8 | g.11758339C>T | CA370315622 | GATA4 | c.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) | |
8 | g.11758340T>A | CA459314071 | GATA4 | c.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=) | |
8 | g.11758340T>C | CA459314073 | GATA4 | c.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=) | |
8 | g.11758340T>G | CA459314074 | GATA4 | c.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 |
8 | g.11758341G>A | CA370315623 | GATA4 | c.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) | |
8 | g.11758341G>C | CA172121423 | GATA4 | c.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 |
8 | g.11758341G= | CA1764074142 | GATA4 | c.1195G= (p.Val399=) c.1198G= (p.Val400=) n.640G= c.577G= (p.Val193=) c.1192G= (p.Val398=) c.451G= (p.Val151=) | |
8 | g.11758341G>T | CA370315624 | GATA4 | c.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 |
8 | g.11758342T>A | CA370315627 | GATA4 | c.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) | |
8 | g.11758342T>C | CA370315626 | GATA4 | c.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 |
8 | g.11758342T>G | CA370315625 | GATA4 | c.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) | |
8 | g.11758343C>A | CA459314078 | GATA4 | c.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 |
8 | g.11758343C= | CA1764074146 | GATA4 | c.1197C= (p.Val399=) c.1200C= (p.Val400=) n.642C= c.579C= (p.Val193=) c.1194C= (p.Val398=) c.453C= (p.Val151=) | |
8 | g.11758343C>G | CA459314079 | GATA4 | c.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 |
8 | g.11758343C>T | CA4630886 | GATA4 | c.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 |
8 | g.11758344C>A | CA370315630 | GATA4 | c.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) | |
8 | g.11758344C= | CA1764074148 | GATA4 | c.1198C= (p.Leu400=) c.1201C= (p.Leu401=) n.643C= c.580C= (p.Leu194=) c.1195C= (p.Leu399=) c.454C= (p.Leu152=) | |
8 | g.11758344C>G | CA370315628 | GATA4 | c.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 |
8 | g.11758344C>T | CA370315629 | GATA4 | c.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) | |
8 | g.11758349_11758363del | CA2686137362 | GATA4 | c.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 |
8 | g.11758345T>A | CA370315631 | GATA4 | c.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) | |
8 | g.11758345T>C | CA370315632 | GATA4 | c.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 |
8 | g.11758345T>G | CA370315633 | GATA4 | c.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) | |
8 | g.11758346C>A | CA459314082 | GATA4 | c.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=) | |
8 | g.11758346C= | CA1764074152 | GATA4 | c.1200C= (p.Leu400=) c.1203C= (p.Leu401=) n.645C= c.582C= (p.Leu194=) c.1197C= (p.Leu399=) c.456C= (p.Leu152=) | |
8 | g.11758346C>G | CA459314081 | GATA4 | c.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 |
8 | g.11758346C>T | CA459314080 | GATA4 | c.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=) | |
8 | g.11758347T>A | CA370315634 | GATA4 | c.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) | |
8 | g.11758347T>C | CA370315635 | GATA4 | c.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) | |
8 | g.11758347T>G | CA370315636 | GATA4 | c.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) | |
8 | g.11758348C>A | CA370315637 | GATA4 | c.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 |
8 | g.11758348C= | CA1764074157 | GATA4 | c.1202C= (p.Ser401=) c.1205C= (p.Ser402=) n.647C= c.584C= (p.Ser195=) c.1199C= (p.Ser400=) c.458C= (p.Ser153=) | |
8 | g.11758348C>G | CA370315638 | GATA4 | c.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) | |
8 | g.11758348C>T | CA4630887 | GATA4 | c.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 |
8 | g.11758349G>A | CA4630888 | GATA4 | c.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 |
8 | g.11758349G>C | CA459314087 | GATA4 | c.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 |
8 | g.11758349G= | CA1764074166 | GATA4 | c.1203G= (p.Ser401=) c.1206G= (p.Ser402=) n.648G= c.585G= (p.Ser195=) c.1200G= (p.Ser400=) c.459G= (p.Ser153=) | |
8 | g.11758349G>T | CA459314088 | GATA4 | c.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=) | |
8 | g.11758349_11758350insCCAATCTGTGGTATTCTGTTATG | CA1764074165 | GATA4 | c.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 |
8 | g.11758350G>A | CA370315641 | GATA4 | c.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 |
8 | g.11758350G>C | CA370315639 | GATA4 | c.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) | |
8 | g.11758350G>T | CA370315640 | GATA4 | c.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) | |
8 | g.11758350_11758351delinsGC | CA1764074171 | GATA4 | c.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=) | |
8 | g.11758351C>A | CA370315642 | GATA4 | c.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 |
8 | g.11758351C= | CA1764074175 | GATA4 | c.1205C= (p.Ala402=) c.1208C= (p.Ala403=) n.650C= c.587C= (p.Ala196=) c.1202C= (p.Ala401=) c.461C= (p.Ala154=) | |
8 | g.11758351C>G | CA370315643 | GATA4 | c.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) | |
8 | g.11758351C>T | CA370315644 | GATA4 | c.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) | |
8 | g.11758353del | CA580031741 | GATA4 | c.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 |
8 | g.11758351_11758352insACCAGCTTTAGCGAACTAATACA | CA1764074178 | GATA4 | c.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 |
8 | g.11758352C>A | CA459314091 | GATA4 | c.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=) | |
8 | g.11758352C>G | CA459314092 | GATA4 | c.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=) | |
8 | g.11758352C>T | CA459314093 | GATA4 | c.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 |
8 | g.11758353C>A | CA4630889 | GATA4 | c.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 |
8 | g.11758353C= | CA1764074181 | GATA4 | c.1207C= (p.Leu403=) c.1210C= (p.Leu404=) n.652C= c.589C= (p.Leu197=) c.1204C= (p.Leu402=) c.463C= (p.Leu155=) | |
8 | g.11758353C>G | CA370315645 | GATA4 | c.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 |
8 | g.11758353C>T | CA459314094 | GATA4 | c.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 |
8 | g.11758354T>A | CA370315646 | GATA4 | c.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) | |
8 | g.11758354T>C | CA370315647 | GATA4 | c.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) | |
8 | g.11758354T>G | CA370315648 | GATA4 | c.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) | |
8 | g.11758355G>A | CA459314098 | GATA4 | c.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 |
8 | g.11758355G>C | CA459314099 | GATA4 | c.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=) | |
8 | g.11758355G>T | CA459314100 | GATA4 | c.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=) | |
8 | g.11758356A>C | CA370315649 | GATA4 | c.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) | |
8 | g.11758356A>G | CA370315650 | GATA4 | c.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) | |
8 | g.11758356A>T | CA370315651 | GATA4 | c.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) | |
8 | g.11758357A>C | CA370315653 | GATA4 | c.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) | |
8 | g.11758357A>G | CA370315654 | GATA4 | c.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) | |
8 | g.11758357A>T | CA370315652 | GATA4 | c.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) | |
8 | g.11758358G>A | CA172121437 | GATA4 | c.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 |
8 | g.11758358G>C | CA370315655 | GATA4 | c.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) | |
8 | g.11758358G= | CA1764074183 | GATA4 | c.1212G= (p.Lys404=) c.1215G= (p.Lys405=) n.657G= c.594G= (p.Lys198=) c.1209G= (p.Lys403=) c.468G= (p.Lys156=) | |
8 | g.11758358G>T | CA370315656 | GATA4 | c.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) | |
8 | g.11758359C>A | CA370315657 | GATA4 | c.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) | |
8 | g.11758359C>G | CA370315658 | GATA4 | c.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) | |
8 | g.11758359C>T | CA370315659 | GATA4 | c.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 |
8 | g.11758360T>A | CA370315660 | GATA4 | c.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) | |
8 | g.11758360T>C | CA370315661 | GATA4 | c.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) | |
8 | g.11758360T>G | CA370315662 | GATA4 | c.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) | |
8 | g.11758361C>A | CA459314105 | GATA4 | c.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=) | |
8 | g.11758361C= | CA1764074185 | GATA4 | c.1215C= (p.Leu405=) c.1218C= (p.Leu406=) n.660C= c.597C= (p.Leu199=) c.1212C= (p.Leu404=) c.471C= (p.Leu157=) | |
8 | g.11758361C>G | CA459314106 | GATA4 | c.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=) | |
8 | g.11758361C>T | CA4630890 | GATA4 | c.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 |
8 | g.11758362T>A | CA370315663 | GATA4 | c.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) | |
8 | g.11758362T>C | CA370315664 | GATA4 | c.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) | |
8 | g.11758362T>G | CA370315665 | GATA4 | c.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) | |
8 | g.11758363C>A | CA370315668 | GATA4 | c.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) | |
8 | g.11758363C>G | CA370315667 | GATA4 | c.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) | |
8 | g.11758363C>T | CA370315666 | GATA4 | c.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) | |
8 | g.11758364C>A | CA459314110 | GATA4 | c.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=) | |
8 | g.11758364C>G | CA459314111 | GATA4 | c.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 |
8 | g.11758364C>T | CA459314112 | GATA4 | c.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=) | |
8 | g.11758365C>A | CA370315669 | GATA4 | c.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) | |
8 | g.11758365C= | CA1764074191 | GATA4 | c.1219C= (p.Pro407=) c.1222C= (p.Pro408=) n.664C= c.601C= (p.Pro201=) c.1216C= (p.Pro406=) c.475C= (p.Pro159=) | |
8 | g.11758365C>G | CA370315670 | GATA4 | c.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 |
8 | g.11758365C>T | CA370315671 | GATA4 | c.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 |
8 | g.11758366C>A | CA212683 | GATA4 | c.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 |
8 | g.11758366C= | CA1764074197 | GATA4 | c.1220C= (p.Pro407=) c.1223C= (p.Pro408=) n.665C= c.602C= (p.Pro201=) c.1217C= (p.Pro406=) c.476C= (p.Pro159=) | |
8 | g.11758366C>G | CA4630891 | GATA4 | c.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 |
8 | g.11758366C>T | CA370315672 | GATA4 | c.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) | |
8 | g.11758367A= | CA1764074204 | GATA4 | c.1221A= (p.Pro407=) c.1224A= (p.Pro408=) n.666A= c.603A= (p.Pro201=) c.1218A= (p.Pro406=) c.477A= (p.Pro159=) | |
8 | g.11758367A>C | CA4630892 | GATA4 | c.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 |
8 | g.11758367A>G | CA459314117 | GATA4 | c.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 |
8 | g.11758367A>T | CA459314116 | GATA4 | c.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=) | |
8 | g.11758368C>A | CA370315673 | GATA4 | c.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) | |
8 | g.11758368C= | CA1764074209 | GATA4 | c.1222C= (p.Gln408=) c.1225C= (p.Gln409=) n.667C= c.604C= (p.Gln202=) c.1219C= (p.Gln407=) c.478C= (p.Gln160=) | |
8 | g.11758368C>G | CA370315674 | GATA4 | c.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) | |
8 | g.11758368C>T | CA370315675 | GATA4 | c.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 |
8 | g.11758369A>C | CA370315676 | GATA4 | c.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) | |
8 | g.11758369A>G | CA370315677 | GATA4 | c.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) | |
8 | g.11758369A>T | CA370315678 | GATA4 | c.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) | |
8 | g.11758370A>C | CA370315680 | GATA4 | c.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) | |
8 | g.11758370A>G | CA459314118 | GATA4 | c.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=) | |
8 | g.11758370A>T | CA370315679 | GATA4 | c.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) | |
8 | g.11758371G>A | CA370315681 | GATA4 | c.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) | |
8 | g.11758371G>C | CA370315683 | GATA4 | c.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 |
8 | g.11758371G>T | CA370315682 | GATA4 | c.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) | |
8 | g.11758372G>A | CA370315684 | GATA4 | c.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 |
8 | g.11758372G>C | CA370315686 | GATA4 | c.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 |
8 | g.11758372G>T | CA370315685 | GATA4 | c.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) | |
8 | g.11758373C>A | CA459314120 | GATA4 | c.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=) | |
8 | g.11758373C>G | CA459314122 | GATA4 | c.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=) | |
8 | g.11758373C>T | CA459314121 | GATA4 | c.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 |
8 | g.11758374T>A | CA370315687 | GATA4 | c.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) | |
8 | g.11758374T>C | CA4630893 | GATA4 | c.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 |
8 | g.11758374T>G | CA370315688 | GATA4 | c.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) | |
8 | g.11758374T= | CA1764074213 | GATA4 | c.1228T= (p.Tyr410=) c.1231T= (p.Tyr411=) n.673T= c.610T= (p.Tyr204=) c.1225T= (p.Tyr409=) c.484T= (p.Tyr162=) | |
8 | g.11758375A= | CA1764074223 | GATA4 | c.1229A= (p.Tyr410=) c.1232A= (p.Tyr411=) n.674A= c.611A= (p.Tyr204=) c.1226A= (p.Tyr409=) c.485A= (p.Tyr162=) | |
8 | g.11758375A>C | CA370315689 | GATA4 | c.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) | |
8 | g.11758375A>G | CA370315690 | GATA4 | c.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 |
8 | g.11758375A>T | CA172121445 | GATA4 | c.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 |
8 | g.11758376T>A | CA370315691 | GATA4 | c.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) | |
8 | g.11758376T>C | CA459314128 | GATA4 | c.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 |
8 | g.11758376T>G | CA370315692 | GATA4 | c.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) | |
8 | g.11758377G>A | CA370315693 | GATA4 | c.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) | |
8 | g.11758377G>C | CA370315694 | GATA4 | c.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) | |
8 | g.11758377G>T | CA370315695 | GATA4 | c.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) | |
8 | g.11758378C>A | CA370315696 | GATA4 | c.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) | |
8 | g.11758378C= | CA1764074232 | GATA4 | c.1232C= (p.Ala411=) c.1235C= (p.Ala412=) n.677C= c.614C= (p.Ala205=) c.1229C= (p.Ala410=) c.488C= (p.Ala163=) | |
8 | g.11758378C>G | CA370315697 | GATA4 | c.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) | |
8 | g.11758378C>T | CA4630894 | GATA4 | c.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 |
8 | g.11758379G>A | CA4630895 | GATA4 | c.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 |
8 | g.11758379G>C | CA459314135 | GATA4 | c.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=) | |
8 | g.11758379G= | CA1764074237 | GATA4 | c.1233G= (p.Ala411=) c.1236G= (p.Ala412=) n.678G= c.615G= (p.Ala205=) c.1230G= (p.Ala410=) c.489G= (p.Ala163=) | |
8 | g.11758379G>T | CA459314137 | GATA4 | c.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 |
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 |