Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.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 |
8 | g.11758422T>A | CA370315788 | GATA4 | c.1276T>A (p.Ser426Thr) c.1279T>A (p.Ser427Thr) n.721T>A c.658T>A (p.Ser220Thr) c.1273T>A (p.Ser425Thr) c.532T>A (p.Ser178Thr) | |
8 | g.11758422T>C | CA370315789 | GATA4 | c.1276T>C (p.Ser426Pro) c.1279T>C (p.Ser427Pro) n.721T>C c.658T>C (p.Ser220Pro) c.1273T>C (p.Ser425Pro) c.532T>C (p.Ser178Pro) | |
8 | g.11758422T>G | CA370315790 | GATA4 | c.1276T>G (p.Ser426Ala) c.1279T>G (p.Ser427Ala) n.721T>G c.658T>G (p.Ser220Ala) c.1273T>G (p.Ser425Ala) c.532T>G (p.Ser178Ala) | |
8 | g.11758423C>A | CA370315792 | GATA4 | c.1277C>A (p.Ser426Tyr) c.1280C>A (p.Ser427Tyr) n.722C>A c.659C>A (p.Ser220Tyr) c.1274C>A (p.Ser425Tyr) c.533C>A (p.Ser178Tyr) | |
8 | g.11758423C>G | CA370315793 | GATA4 | c.1277C>G (p.Ser426Cys) c.1280C>G (p.Ser427Cys) n.722C>G c.659C>G (p.Ser220Cys) c.1274C>G (p.Ser425Cys) c.533C>G (p.Ser178Cys) | |
8 | g.11758423C>T | CA370315791 | GATA4 | c.1277C>T (p.Ser426Phe) c.1280C>T (p.Ser427Phe) n.722C>T c.659C>T (p.Ser220Phe) c.1274C>T (p.Ser425Phe) c.533C>T (p.Ser178Phe) | |
8 | g.11758424T>A | CA459314399 | GATA4 | c.1278T>A (p.Ser426=) c.1281T>A (p.Ser427=) n.723T>A c.660T>A (p.Ser220=) c.1275T>A (p.Ser425=) c.534T>A (p.Ser178=) | |
8 | g.11758424T>C | CA459314400 | GATA4 | c.1278T>C (p.Ser426=) c.1281T>C (p.Ser427=) n.723T>C c.660T>C (p.Ser220=) c.1275T>C (p.Ser425=) c.534T>C (p.Ser178=) | dbSNP gnomAD v4 |
8 | g.11758424T>G | CA459314402 | GATA4 | c.1278T>G (p.Ser426=) c.1281T>G (p.Ser427=) n.723T>G c.660T>G (p.Ser220=) c.1275T>G (p.Ser425=) c.534T>G (p.Ser178=) | |
8 | g.11758424T= | CA1764074312 | GATA4 | c.1278T= (p.Ser426=) c.1281T= (p.Ser427=) n.723T= c.660T= (p.Ser220=) c.1275T= (p.Ser425=) c.534T= (p.Ser178=) | |
8 | g.11758425T>A | CA370315795 | GATA4 | c.1279T>A (p.Trp427Arg) c.1282T>A (p.Trp428Arg) n.724T>A c.661T>A (p.Trp221Arg) c.1276T>A (p.Trp426Arg) c.535T>A (p.Trp179Arg) | |
8 | g.11758425T>C | CA370315794 | GATA4 | c.1279T>C (p.Trp427Arg) c.1282T>C (p.Trp428Arg) n.724T>C c.661T>C (p.Trp221Arg) c.1276T>C (p.Trp426Arg) c.535T>C (p.Trp179Arg) | |
8 | g.11758425T>G | CA370315796 | GATA4 | c.1279T>G (p.Trp427Gly) c.1282T>G (p.Trp428Gly) n.724T>G c.661T>G (p.Trp221Gly) c.1276T>G (p.Trp426Gly) c.535T>G (p.Trp179Gly) | |
8 | g.11758426G>A | CA370315797 | GATA4 | c.1280G>A (p.Trp427Ter) c.1283G>A (p.Trp428Ter) n.725G>A c.662G>A (p.Trp221Ter) c.1277G>A (p.Trp426Ter) c.536G>A (p.Trp179Ter) | gnomAD v4 COSMIC |
8 | g.11758426G>C | CA370315798 | GATA4 | c.1280G>C (p.Trp427Ser) c.1283G>C (p.Trp428Ser) n.725G>C c.662G>C (p.Trp221Ser) c.1277G>C (p.Trp426Ser) c.536G>C (p.Trp179Ser) | |
8 | g.11758426G>T | CA370315799 | GATA4 | c.1280G>T (p.Trp427Leu) c.1283G>T (p.Trp428Leu) n.725G>T c.662G>T (p.Trp221Leu) c.1277G>T (p.Trp426Leu) c.536G>T (p.Trp179Leu) | |
8 | g.11758427G>A | CA370315800 | GATA4 | c.1281G>A (p.Trp427Ter) c.1284G>A (p.Trp428Ter) n.726G>A c.663G>A (p.Trp221Ter) c.1278G>A (p.Trp426Ter) c.537G>A (p.Trp179Ter) | dbSNP |
8 | g.11758427G>C | CA370315801 | GATA4 | c.1281G>C (p.Trp427Cys) c.1284G>C (p.Trp428Cys) n.726G>C c.663G>C (p.Trp221Cys) c.1278G>C (p.Trp426Cys) c.537G>C (p.Trp179Cys) | |
8 | g.11758427G= | CA1764074315 | GATA4 | c.1281G= (p.Trp427=) c.1284G= (p.Trp428=) n.726G= c.663G= (p.Trp221=) c.1278G= (p.Trp426=) c.537G= (p.Trp179=) | |
8 | g.11758427G>T | CA370315802 | GATA4 | c.1281G>T (p.Trp427Cys) c.1284G>T (p.Trp428Cys) n.726G>T c.663G>T (p.Trp221Cys) c.1278G>T (p.Trp426Cys) c.537G>T (p.Trp179Cys) | |
8 | g.11758428A= | CA1764074321 | GATA4 | c.1282A= (p.Asn428=) c.1285A= (p.Asn429=) n.727A= c.664A= (p.Asn222=) c.1279A= (p.Asn427=) c.538A= (p.Asn180=) | |
8 | g.11758428A>C | CA370315803 | GATA4 | c.1282A>C (p.Asn428His) c.1285A>C (p.Asn429His) n.727A>C c.664A>C (p.Asn222His) c.1279A>C (p.Asn427His) c.538A>C (p.Asn180His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11758428A>G | CA370315804 | GATA4 | c.1282A>G (p.Asn428Asp) c.1285A>G (p.Asn429Asp) n.727A>G c.664A>G (p.Asn222Asp) c.1279A>G (p.Asn427Asp) c.538A>G (p.Asn180Asp) | |
8 | g.11758428A>T | CA370315805 | GATA4 | c.1282A>T (p.Asn428Tyr) c.1285A>T (p.Asn429Tyr) n.727A>T c.664A>T (p.Asn222Tyr) c.1279A>T (p.Asn427Tyr) c.538A>T (p.Asn180Tyr) | |
8 | g.11758429A= | CA1764074327 | GATA4 | c.1283A= (p.Asn428=) c.1286A= (p.Asn429=) n.728A= c.665A= (p.Asn222=) c.1280A= (p.Asn427=) c.539A= (p.Asn180=) | |
8 | g.11758429A>C | CA172121516 | GATA4 | c.1283A>C (p.Asn428Thr) c.1286A>C (p.Asn429Thr) n.728A>C c.665A>C (p.Asn222Thr) c.1280A>C (p.Asn427Thr) c.539A>C (p.Asn180Thr) | dbSNP |
8 | g.11758429A>G | CA370315806 | GATA4 | c.1283A>G (p.Asn428Ser) c.1286A>G (p.Asn429Ser) n.728A>G c.665A>G (p.Asn222Ser) c.1280A>G (p.Asn427Ser) c.539A>G (p.Asn180Ser) | ClinVar dbSNP |
8 | g.11758429A>T | CA370315807 | GATA4 | c.1283A>T (p.Asn428Ile) c.1286A>T (p.Asn429Ile) n.728A>T c.665A>T (p.Asn222Ile) c.1280A>T (p.Asn427Ile) c.539A>T (p.Asn180Ile) | |
8 | g.11758430C>A | CA370315808 | GATA4 | c.1284C>A (p.Asn428Lys) c.1287C>A (p.Asn429Lys) n.729C>A c.666C>A (p.Asn222Lys) c.1281C>A (p.Asn427Lys) c.540C>A (p.Asn180Lys) | |
8 | g.11758430C>G | CA370315809 | GATA4 | c.1284C>G (p.Asn428Lys) c.1287C>G (p.Asn429Lys) n.729C>G c.666C>G (p.Asn222Lys) c.1281C>G (p.Asn427Lys) c.540C>G (p.Asn180Lys) | |
8 | g.11758430C>T | CA459314427 | GATA4 | c.1284C>T (p.Asn428=) c.1287C>T (p.Asn429=) n.729C>T c.666C>T (p.Asn222=) c.1281C>T (p.Asn427=) c.540C>T (p.Asn180=) | gnomAD v4 |
8 | g.11758431A= | CA1764074331 | GATA4 | c.1285A= (p.Ser429=) c.1288A= (p.Ser430=) n.730A= c.667A= (p.Ser223=) c.1282A= (p.Ser428=) c.541A= (p.Ser181=) | |
8 | g.11758431A>C | CA370315810 | GATA4 | c.1285A>C (p.Ser429Arg) c.1288A>C (p.Ser430Arg) n.730A>C c.667A>C (p.Ser223Arg) c.1282A>C (p.Ser428Arg) c.541A>C (p.Ser181Arg) | |
8 | g.11758431A>G | CA4630902 | GATA4 | c.1285A>G (p.Ser429Gly) c.1288A>G (p.Ser430Gly) n.730A>G c.667A>G (p.Ser223Gly) c.1282A>G (p.Ser428Gly) c.541A>G (p.Ser181Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11758431A>T | CA370315811 | GATA4 | c.1285A>T (p.Ser429Cys) c.1288A>T (p.Ser430Cys) n.730A>T c.667A>T (p.Ser223Cys) c.1282A>T (p.Ser428Cys) c.541A>T (p.Ser181Cys) | |
8 | g.11758432G>A | CA370315812 | GATA4 | c.1286G>A (p.Ser429Asn) c.1289G>A (p.Ser430Asn) n.731G>A c.668G>A (p.Ser223Asn) c.1283G>A (p.Ser428Asn) c.542G>A (p.Ser181Asn) | ClinVar |
8 | g.11758432G>C | CA370315813 | GATA4 | c.1286G>C (p.Ser429Thr) c.1289G>C (p.Ser430Thr) n.731G>C c.668G>C (p.Ser223Thr) c.1283G>C (p.Ser428Thr) c.542G>C (p.Ser181Thr) | gnomAD v4 |
8 | g.11758432G>T | CA370315814 | GATA4 | c.1286G>T (p.Ser429Ile) c.1289G>T (p.Ser430Ile) n.731G>T c.668G>T (p.Ser223Ile) c.1283G>T (p.Ser428Ile) c.542G>T (p.Ser181Ile) | |
8 | g.11758433C>A | CA4630903 | GATA4 | c.1287C>A (p.Ser429Arg) c.1290C>A (p.Ser430Arg) n.732C>A c.669C>A (p.Ser223Arg) c.1284C>A (p.Ser428Arg) c.543C>A (p.Ser181Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11758433C= | CA1764074335 | GATA4 | c.1287C= (p.Ser429=) c.1290C= (p.Ser430=) n.732C= c.669C= (p.Ser223=) c.1284C= (p.Ser428=) c.543C= (p.Ser181=) | |
8 | g.11758433C>G | CA370315815 | GATA4 | c.1287C>G (p.Ser429Arg) c.1290C>G (p.Ser430Arg) n.732C>G c.669C>G (p.Ser223Arg) c.1284C>G (p.Ser428Arg) c.543C>G (p.Ser181Arg) | dbSNP gnomAD v4 |
8 | g.11758433C>T | CA172121521 | GATA4 | c.1287C>T (p.Ser429=) c.1290C>T (p.Ser430=) n.732C>T c.669C>T (p.Ser223=) c.1284C>T (p.Ser428=) c.543C>T (p.Ser181=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.11758434C>A | CA370315816 | GATA4 | c.1288C>A (p.Leu430Met) c.1291C>A (p.Leu431Met) n.733C>A c.670C>A (p.Leu224Met) c.1285C>A (p.Leu429Met) c.544C>A (p.Leu182Met) | |
8 | g.11758434C>G | CA370315817 | GATA4 | c.1288C>G (p.Leu430Val) c.1291C>G (p.Leu431Val) n.733C>G c.670C>G (p.Leu224Val) c.1285C>G (p.Leu429Val) c.544C>G (p.Leu182Val) | |
8 | g.11758434C>T | CA459314449 | GATA4 | c.1288C>T (p.Leu430=) c.1291C>T (p.Leu431=) n.733C>T c.670C>T (p.Leu224=) c.1285C>T (p.Leu429=) c.544C>T (p.Leu182=) | gnomAD v4 |
8 | g.11758435T>A | CA370315819 | GATA4 | c.1289T>A (p.Leu430Gln) c.1292T>A (p.Leu431Gln) n.734T>A c.671T>A (p.Leu224Gln) c.1286T>A (p.Leu429Gln) c.545T>A (p.Leu182Gln) | |
8 | g.11758435T>C | CA370315820 | GATA4 | c.1289T>C (p.Leu430Pro) c.1292T>C (p.Leu431Pro) n.734T>C c.671T>C (p.Leu224Pro) c.1286T>C (p.Leu429Pro) c.545T>C (p.Leu182Pro) | gnomAD v4 |
8 | g.11758435T>G | CA370315818 | GATA4 | c.1289T>G (p.Leu430Arg) c.1292T>G (p.Leu431Arg) n.734T>G c.671T>G (p.Leu224Arg) c.1286T>G (p.Leu429Arg) c.545T>G (p.Leu182Arg) | |
8 | g.11758436G>A | CA459314457 | GATA4 | c.1290G>A (p.Leu430=) c.1293G>A (p.Leu431=) n.735G>A c.672G>A (p.Leu224=) c.1287G>A (p.Leu429=) c.546G>A (p.Leu182=) | |
8 | g.11758436G>C | CA459314459 | GATA4 | c.1290G>C (p.Leu430=) c.1293G>C (p.Leu431=) n.735G>C c.672G>C (p.Leu224=) c.1287G>C (p.Leu429=) c.546G>C (p.Leu182=) | |
8 | g.11758436G>T | CA459314460 | GATA4 | c.1290G>T (p.Leu430=) c.1293G>T (p.Leu431=) n.735G>T c.672G>T (p.Leu224=) c.1287G>T (p.Leu429=) c.546G>T (p.Leu182=) | |
8 | g.11758437G>A | CA370315821 | GATA4 | c.1291G>A (p.Val431Ile) c.1294G>A (p.Val432Ile) n.736G>A c.673G>A (p.Val225Ile) c.1288G>A (p.Val430Ile) c.547G>A (p.Val183Ile) | |
8 | g.11758437G>C | CA4630904 | GATA4 | c.1291G>C (p.Val431Leu) c.1294G>C (p.Val432Leu) n.736G>C c.673G>C (p.Val225Leu) c.1288G>C (p.Val430Leu) c.547G>C (p.Val183Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11758437G= | CA1764074340 | GATA4 | c.1291G= (p.Val431=) c.1294G= (p.Val432=) n.736G= c.673G= (p.Val225=) c.1288G= (p.Val430=) c.547G= (p.Val183=) | |
8 | g.11758437G>T | CA370315822 | GATA4 | c.1291G>T (p.Val431Phe) c.1294G>T (p.Val432Phe) n.736G>T c.673G>T (p.Val225Phe) c.1288G>T (p.Val430Phe) c.547G>T (p.Val183Phe) | |
8 | g.11758438T>A | CA370315823 | GATA4 | c.1292T>A (p.Val431Asp) c.1295T>A (p.Val432Asp) n.737T>A c.674T>A (p.Val225Asp) c.1289T>A (p.Val430Asp) c.548T>A (p.Val183Asp) | |
8 | g.11758438T>C | CA370315824 | GATA4 | c.1292T>C (p.Val431Ala) c.1295T>C (p.Val432Ala) n.737T>C c.674T>C (p.Val225Ala) c.1289T>C (p.Val430Ala) c.548T>C (p.Val183Ala) | |
8 | g.11758438T>G | CA4630905 | GATA4 | c.1292T>G (p.Val431Gly) c.1295T>G (p.Val432Gly) n.737T>G c.674T>G (p.Val225Gly) c.1289T>G (p.Val430Gly) c.548T>G (p.Val183Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11758438T= | CA1764074343 | GATA4 | c.1292T= (p.Val431=) c.1295T= (p.Val432=) n.737T= c.674T= (p.Val225=) c.1289T= (p.Val430=) c.548T= (p.Val183=) | |
8 | g.11758439C>A | CA459314476 | GATA4 | c.1293C>A (p.Val431=) c.1296C>A (p.Val432=) n.738C>A c.675C>A (p.Val225=) c.1290C>A (p.Val430=) c.549C>A (p.Val183=) | COSMIC |
8 | g.11758439C= | CA1764074348 | GATA4 | c.1293C= (p.Val431=) c.1296C= (p.Val432=) n.738C= c.675C= (p.Val225=) c.1290C= (p.Val430=) c.549C= (p.Val183=) | |
8 | g.11758439C>G | CA4630906 | GATA4 | c.1293C>G (p.Val431=) c.1296C>G (p.Val432=) n.738C>G c.675C>G (p.Val225=) c.1290C>G (p.Val430=) c.549C>G (p.Val183=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11758439C>T | CA4630907 | GATA4 | c.1293C>T (p.Val431=) c.1296C>T (p.Val432=) n.738C>T c.675C>T (p.Val225=) c.1290C>T (p.Val430=) c.549C>T (p.Val183=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
8 | g.11758440T>A | CA370315825 | GATA4 | c.1294T>A (p.Leu432Met) c.1297T>A (p.Leu433Met) n.739T>A c.676T>A (p.Leu226Met) c.1291T>A (p.Leu431Met) c.550T>A (p.Leu184Met) | |
8 | g.11758440T>C | CA459314484 | GATA4 | c.1294T>C (p.Leu432=) c.1297T>C (p.Leu433=) n.739T>C c.676T>C (p.Leu226=) c.1291T>C (p.Leu431=) c.550T>C (p.Leu184=) | dbSNP |
8 | g.11758440T>G | CA370315826 | GATA4 | c.1294T>G (p.Leu432Val) c.1297T>G (p.Leu433Val) n.739T>G c.676T>G (p.Leu226Val) c.1291T>G (p.Leu431Val) c.550T>G (p.Leu184Val) | |
8 | g.11758440T= | CA1764074349 | GATA4 | c.1294T= (p.Leu432=) c.1297T= (p.Leu433=) n.739T= c.676T= (p.Leu226=) c.1291T= (p.Leu431=) c.550T= (p.Leu184=) | |
8 | g.11758441T>A | CA370315827 | GATA4 | c.1295T>A (p.Leu432Ter) c.1298T>A (p.Leu433Ter) n.740T>A c.677T>A (p.Leu226Ter) c.1292T>A (p.Leu431Ter) c.551T>A (p.Leu184Ter) | |
8 | g.11758441T>C | CA370315828 | GATA4 | c.1295T>C (p.Leu432Ser) c.1298T>C (p.Leu433Ser) n.740T>C c.677T>C (p.Leu226Ser) c.1292T>C (p.Leu431Ser) c.551T>C (p.Leu184Ser) | |
8 | g.11758441T>G | CA370315829 | GATA4 | c.1295T>G (p.Leu432Trp) c.1298T>G (p.Leu433Trp) n.740T>G c.677T>G (p.Leu226Trp) c.1292T>G (p.Leu431Trp) c.551T>G (p.Leu184Trp) | |
8 | g.11758442G>A | CA459314495 | GATA4 | c.1296G>A (p.Leu432=) c.1299G>A (p.Leu433=) n.741G>A c.678G>A (p.Leu226=) c.1293G>A (p.Leu431=) c.552G>A (p.Leu184=) | |
8 | g.11758442G>C | CA370315831 | GATA4 | c.1296G>C (p.Leu432Phe) c.1299G>C (p.Leu433Phe) n.741G>C c.678G>C (p.Leu226Phe) c.1293G>C (p.Leu431Phe) c.552G>C (p.Leu184Phe) | |
8 | g.11758442G>T | CA370315830 | GATA4 | c.1296G>T (p.Leu432Phe) c.1299G>T (p.Leu433Phe) n.741G>T c.678G>T (p.Leu226Phe) c.1293G>T (p.Leu431Phe) c.552G>T (p.Leu184Phe) | |
8 | g.11758443G>A | CA370315832 | GATA4 | c.1297G>A (p.Ala433Thr) c.1300G>A (p.Ala434Thr) n.742G>A c.679G>A (p.Ala227Thr) c.1294G>A (p.Ala432Thr) c.553G>A (p.Ala185Thr) | gnomAD v4 |
8 | g.11758443G>C | CA370315833 | GATA4 | c.1297G>C (p.Ala433Pro) c.1300G>C (p.Ala434Pro) n.742G>C c.679G>C (p.Ala227Pro) c.1294G>C (p.Ala432Pro) c.553G>C (p.Ala185Pro) | |
8 | g.11758443G>T | CA370315834 | GATA4 | c.1297G>T (p.Ala433Ser) c.1300G>T (p.Ala434Ser) n.742G>T c.679G>T (p.Ala227Ser) c.1294G>T (p.Ala432Ser) c.553G>T (p.Ala185Ser) | |
8 | g.11758444C>A | CA370315835 | GATA4 | c.1298C>A (p.Ala433Asp) c.1301C>A (p.Ala434Asp) n.743C>A c.680C>A (p.Ala227Asp) c.1295C>A (p.Ala432Asp) c.554C>A (p.Ala185Asp) | |
8 | g.11758444C= | CA1764074353 | GATA4 | c.1298C= (p.Ala433=) c.1301C= (p.Ala434=) n.743C= c.680C= (p.Ala227=) c.1295C= (p.Ala432=) c.554C= (p.Ala185=) | |
8 | g.11758444C>G | CA370315836 | GATA4 | c.1298C>G (p.Ala433Gly) c.1301C>G (p.Ala434Gly) n.743C>G c.680C>G (p.Ala227Gly) c.1295C>G (p.Ala432Gly) c.554C>G (p.Ala185Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.11758444C>T | CA370315837 | GATA4 | c.1298C>T (p.Ala433Val) c.1301C>T (p.Ala434Val) n.743C>T c.680C>T (p.Ala227Val) c.1295C>T (p.Ala432Val) c.554C>T (p.Ala185Val) | |
8 | g.11758445C>A | CA459314505 | GATA4 | c.1299C>A (p.Ala433=) c.1302C>A (p.Ala434=) n.744C>A c.681C>A (p.Ala227=) c.1296C>A (p.Ala432=) c.555C>A (p.Ala185=) | |
8 | g.11758445C= | CA1764074356 | GATA4 | c.1299C= (p.Ala433=) c.1302C= (p.Ala434=) n.744C= c.681C= (p.Ala227=) c.1296C= (p.Ala432=) c.555C= (p.Ala185=) | |
8 | g.11758445C>G | CA459314506 | GATA4 | c.1299C>G (p.Ala433=) c.1302C>G (p.Ala434=) n.744C>G c.681C>G (p.Ala227=) c.1296C>G (p.Ala432=) c.555C>G (p.Ala185=) | |
8 | g.11758445C>T | CA459314508 | GATA4 | c.1299C>T (p.Ala433=) c.1302C>T (p.Ala434=) n.744C>T c.681C>T (p.Ala227=) c.1296C>T (p.Ala432=) c.555C>T (p.Ala185=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.11758446G>A | CA4630908 | GATA4 | c.1300G>A (p.Asp434Asn) c.1303G>A (p.Asp435Asn) n.745G>A c.682G>A (p.Asp228Asn) c.1297G>A (p.Asp433Asn) c.556G>A (p.Asp186Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11758446G>C | CA370315838 | GATA4 | c.1300G>C (p.Asp434His) c.1303G>C (p.Asp435His) n.745G>C c.682G>C (p.Asp228His) c.1297G>C (p.Asp433His) c.556G>C (p.Asp186His) | |
8 | g.11758446G= | CA1764074360 | GATA4 | c.1300G= (p.Asp434=) c.1303G= (p.Asp435=) n.745G= c.682G= (p.Asp228=) c.1297G= (p.Asp433=) c.556G= (p.Asp186=) | |
8 | g.11758446G>T | CA370315839 | GATA4 | c.1300G>T (p.Asp434Tyr) c.1303G>T (p.Asp435Tyr) n.745G>T c.682G>T (p.Asp228Tyr) c.1297G>T (p.Asp433Tyr) c.556G>T (p.Asp186Tyr) | dbSNP |
8 | g.11758447A>C | CA370315840 | GATA4 | c.1301A>C (p.Asp434Ala) c.1304A>C (p.Asp435Ala) n.746A>C c.683A>C (p.Asp228Ala) c.1298A>C (p.Asp433Ala) c.557A>C (p.Asp186Ala) | |
8 | g.11758447A>G | CA370315841 | GATA4 | c.1301A>G (p.Asp434Gly) c.1304A>G (p.Asp435Gly) n.746A>G c.683A>G (p.Asp228Gly) c.1298A>G (p.Asp433Gly) c.557A>G (p.Asp186Gly) | |
8 | g.11758447A>T | CA370315842 | GATA4 | c.1301A>T (p.Asp434Val) c.1304A>T (p.Asp435Val) n.746A>T c.683A>T (p.Asp228Val) c.1298A>T (p.Asp433Val) c.557A>T (p.Asp186Val) | |
8 | g.11758448C>A | CA370315843 | GATA4 | c.1302C>A (p.Asp434Glu) c.1305C>A (p.Asp435Glu) n.747C>A c.684C>A (p.Asp228Glu) c.1299C>A (p.Asp433Glu) c.558C>A (p.Asp186Glu) | gnomAD v4 |
8 | g.11758448C>G | CA370315844 | GATA4 | c.1302C>G (p.Asp434Glu) c.1305C>G (p.Asp435Glu) n.747C>G c.684C>G (p.Asp228Glu) c.1299C>G (p.Asp433Glu) c.558C>G (p.Asp186Glu) | |
8 | g.11758448C>T | CA459314519 | GATA4 | c.1302C>T (p.Asp434=) c.1305C>T (p.Asp435=) n.747C>T c.684C>T (p.Asp228=) c.1299C>T (p.Asp433=) c.558C>T (p.Asp186=) | gnomAD v4 |
8 | g.11758449A= | CA1764074363 | GATA4 | c.1303A= (p.Ser435=) c.1306A= (p.Ser436=) n.748A= c.685A= (p.Ser229=) c.1300A= (p.Ser434=) c.559A= (p.Ser187=) | |
8 | g.11758449A>C | CA172121538 | GATA4 | c.1303A>C (p.Ser435Arg) c.1306A>C (p.Ser436Arg) n.748A>C c.685A>C (p.Ser229Arg) c.1300A>C (p.Ser434Arg) c.559A>C (p.Ser187Arg) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.11758449A>G | CA370315846 | GATA4 | c.1303A>G (p.Ser435Gly) c.1306A>G (p.Ser436Gly) n.748A>G c.685A>G (p.Ser229Gly) c.1300A>G (p.Ser434Gly) c.559A>G (p.Ser187Gly) | dbSNP |
8 | g.11758449A>T | CA370315845 | GATA4 | c.1303A>T (p.Ser435Cys) c.1306A>T (p.Ser436Cys) n.748A>T c.685A>T (p.Ser229Cys) c.1300A>T (p.Ser434Cys) c.559A>T (p.Ser187Cys) | |
8 | g.11758450G>A | CA370315847 | GATA4 | c.1304G>A (p.Ser435Asn) c.1307G>A (p.Ser436Asn) n.749G>A c.686G>A (p.Ser229Asn) c.1301G>A (p.Ser434Asn) c.560G>A (p.Ser187Asn) | |
8 | g.11758450G>C | CA370315848 | GATA4 | c.1304G>C (p.Ser435Thr) c.1307G>C (p.Ser436Thr) n.749G>C c.686G>C (p.Ser229Thr) c.1301G>C (p.Ser434Thr) c.560G>C (p.Ser187Thr) | |
8 | g.11758450G>T | CA370315849 | GATA4 | c.1304G>T (p.Ser435Ile) c.1307G>T (p.Ser436Ile) n.749G>T c.686G>T (p.Ser229Ile) c.1301G>T (p.Ser434Ile) c.560G>T (p.Ser187Ile) | |
8 | g.11758451T>A | CA4630909 | GATA4 | c.1305T>A (p.Ser435Arg) c.1308T>A (p.Ser436Arg) n.750T>A c.687T>A (p.Ser229Arg) c.1302T>A (p.Ser434Arg) c.561T>A (p.Ser187Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11758451T>C | CA459314528 | GATA4 | c.1305T>C (p.Ser435=) c.1308T>C (p.Ser436=) n.750T>C c.687T>C (p.Ser229=) c.1302T>C (p.Ser434=) c.561T>C (p.Ser187=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.11758451T>G | CA370315850 | GATA4 | c.1305T>G (p.Ser435Arg) c.1308T>G (p.Ser436Arg) n.750T>G c.687T>G (p.Ser229Arg) c.1302T>G (p.Ser434Arg) c.561T>G (p.Ser187Arg) | |
8 | g.11758451T= | CA1764074367 | GATA4 | c.1305T= (p.Ser435=) c.1308T= (p.Ser436=) n.750T= c.687T= (p.Ser229=) c.1302T= (p.Ser434=) c.561T= (p.Ser187=) | |
8 | g.11758452C>A | CA370315853 | GATA4 | c.1306C>A (p.His436Asn) c.1309C>A (p.His437Asn) n.751C>A c.688C>A (p.His230Asn) c.1303C>A (p.His435Asn) c.562C>A (p.His188Asn) | |
8 | g.11758452C>G | CA370315852 | GATA4 | c.1306C>G (p.His436Asp) c.1309C>G (p.His437Asp) n.751C>G c.688C>G (p.His230Asp) c.1303C>G (p.His435Asp) c.562C>G (p.His188Asp) | gnomAD v4 |
8 | g.11758452C>T | CA370315851 | GATA4 | c.1306C>T (p.His436Tyr) c.1309C>T (p.His437Tyr) n.751C>T c.688C>T (p.His230Tyr) c.1303C>T (p.His435Tyr) c.562C>T (p.His188Tyr) |