Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.11757025C>A | CA370315397 | GATA4 | c.1088C>A (p.Pro363His) c.1091C>A (p.Pro364His) n.533C>A c.470C>A (p.Pro157His) c.1085C>A (p.Pro362His) c.344C>A (p.Pro115His) | |
8 | g.11757025C= | CA1764072500 | GATA4 | c.1088C= (p.Pro363=) c.1091C= (p.Pro364=) n.533C= c.470C= (p.Pro157=) c.1085C= (p.Pro362=) c.344C= (p.Pro115=) | |
8 | g.11757025C>G | CA370315398 | GATA4 | c.1088C>G (p.Pro363Arg) c.1091C>G (p.Pro364Arg) n.533C>G c.470C>G (p.Pro157Arg) c.1085C>G (p.Pro362Arg) c.344C>G (p.Pro115Arg) | ClinVar dbSNP |
8 | g.11757025C>T | CA370315399 | GATA4 | c.1088C>T (p.Pro363Leu) c.1091C>T (p.Pro364Leu) n.533C>T c.470C>T (p.Pro157Leu) c.1085C>T (p.Pro362Leu) c.344C>T (p.Pro115Leu) | |
8 | g.11757026C>A | CA459313700 | GATA4 | c.1089C>A (p.Pro363=) c.1092C>A (p.Pro364=) n.534C>A c.471C>A (p.Pro157=) c.1086C>A (p.Pro362=) c.345C>A (p.Pro115=) | |
8 | g.11757026C>G | CA459313698 | GATA4 | c.1089C>G (p.Pro363=) c.1092C>G (p.Pro364=) n.534C>G c.471C>G (p.Pro157=) c.1086C>G (p.Pro362=) c.345C>G (p.Pro115=) | gnomAD v4 |
8 | g.11757026C>T | CA459313699 | GATA4 | c.1089C>T (p.Pro363=) c.1092C>T (p.Pro364=) n.534C>T c.471C>T (p.Pro157=) c.1086C>T (p.Pro362=) c.345C>T (p.Pro115=) | gnomAD v4 |
8 | g.11757027A>C | CA370315400 | GATA4 | c.1090A>C (p.Ile364Leu) c.1093A>C (p.Ile365Leu) n.535A>C c.472A>C (p.Ile158Leu) c.1087A>C (p.Ile363Leu) c.346A>C (p.Ile116Leu) | |
8 | g.11757027A>G | CA370315401 | GATA4 | c.1090A>G (p.Ile364Val) c.1093A>G (p.Ile365Val) n.535A>G c.472A>G (p.Ile158Val) c.1087A>G (p.Ile363Val) c.346A>G (p.Ile116Val) | |
8 | g.11757027A>T | CA370315402 | GATA4 | c.1090A>T (p.Ile364Phe) c.1093A>T (p.Ile365Phe) n.535A>T c.472A>T (p.Ile158Phe) c.1087A>T (p.Ile363Phe) c.346A>T (p.Ile116Phe) | |
8 | g.11757027dup | CA2573320617 | GATA4 | c.1090dup (p.Ile364AsnfsTer?) c.1093dup (p.Ile365AsnfsTer?) n.535dup c.472dup (p.Ile158AsnfsTer?) c.1087dup (p.Ile363AsnfsTer?) c.346dup (p.Ile116AsnfsTer?) | |
8 | g.11757028T>A | CA370315403 | GATA4 | c.1091T>A (p.Ile364Asn) c.1094T>A (p.Ile365Asn) n.536T>A c.473T>A (p.Ile158Asn) c.1088T>A (p.Ile363Asn) c.347T>A (p.Ile116Asn) | |
8 | g.11757028T>C | CA370315404 | GATA4 | c.1091T>C (p.Ile364Thr) c.1094T>C (p.Ile365Thr) n.536T>C c.473T>C (p.Ile158Thr) c.1088T>C (p.Ile363Thr) c.347T>C (p.Ile116Thr) | |
8 | g.11757028T>G | CA370315405 | GATA4 | c.1091T>G (p.Ile364Ser) c.1094T>G (p.Ile365Ser) n.536T>G c.473T>G (p.Ile158Ser) c.1088T>G (p.Ile363Ser) c.347T>G (p.Ile116Ser) | |
8 | g.11757029C>A | CA459313701 | GATA4 | c.1092C>A (p.Ile364=) c.1095C>A (p.Ile365=) n.537C>A c.474C>A (p.Ile158=) c.1089C>A (p.Ile363=) c.348C>A (p.Ile116=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.11757029C= | CA1764072502 | GATA4 | c.1092C= (p.Ile364=) c.1095C= (p.Ile365=) n.537C= c.474C= (p.Ile158=) c.1089C= (p.Ile363=) c.348C= (p.Ile116=) | |
8 | g.11757029C>G | CA370315406 | GATA4 | c.1092C>G (p.Ile364Met) c.1095C>G (p.Ile365Met) n.537C>G c.474C>G (p.Ile158Met) c.1089C>G (p.Ile363Met) c.348C>G (p.Ile116Met) | dbSNP gnomAD v4 |
8 | g.11757029C>T | CA459313702 | GATA4 | c.1092C>T (p.Ile364=) c.1095C>T (p.Ile365=) n.537C>T c.474C>T (p.Ile158=) c.1089C>T (p.Ile363=) c.348C>T (p.Ile116=) | |
8 | g.11757030A= | CA1764072503 | GATA4 | c.1093A= (p.Lys365=) c.1096A= (p.Lys366=) n.538A= c.475A= (p.Lys159=) c.1090A= (p.Lys364=) c.349A= (p.Lys117=) | |
8 | g.11757030A>C | CA4630825 | GATA4 | c.1093A>C (p.Lys365Gln) c.1096A>C (p.Lys366Gln) n.538A>C c.475A>C (p.Lys159Gln) c.1090A>C (p.Lys364Gln) c.349A>C (p.Lys117Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11757030A>G | CA370315407 | GATA4 | c.1093A>G (p.Lys365Glu) c.1096A>G (p.Lys366Glu) n.538A>G c.475A>G (p.Lys159Glu) c.1090A>G (p.Lys364Glu) c.349A>G (p.Lys117Glu) | |
8 | g.11757030A>T | CA4630824 | GATA4 | c.1093A>T (p.Lys365Ter) c.1096A>T (p.Lys366Ter) n.538A>T c.475A>T (p.Lys159Ter) c.1090A>T (p.Lys364Ter) c.349A>T (p.Lys117Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11757031A>C | CA370315410 | GATA4 | c.1094A>C (p.Lys365Thr) c.1097A>C (p.Lys366Thr) n.539A>C c.476A>C (p.Lys159Thr) c.1091A>C (p.Lys364Thr) c.350A>C (p.Lys117Thr) | |
8 | g.11757031A>G | CA370315408 | GATA4 | c.1094A>G (p.Lys365Arg) c.1097A>G (p.Lys366Arg) n.539A>G c.476A>G (p.Lys159Arg) c.1091A>G (p.Lys364Arg) c.350A>G (p.Lys117Arg) | |
8 | g.11757031A>T | CA370315409 | GATA4 | c.1094A>T (p.Lys365Met) c.1097A>T (p.Lys366Met) n.539A>T c.476A>T (p.Lys159Met) c.1091A>T (p.Lys364Met) c.350A>T (p.Lys117Met) | |
8 | g.11757032G>A | CA459313703 | GATA4 | c.1095G>A (p.Lys365=) c.1098G>A (p.Lys366=) n.540G>A c.477G>A (p.Lys159=) c.1092G>A (p.Lys364=) c.351G>A (p.Lys117=) | |
8 | g.11757032G>C | CA370315411 | GATA4 | c.1095G>C (p.Lys365Asn) c.1098G>C (p.Lys366Asn) n.540G>C c.477G>C (p.Lys159Asn) c.1092G>C (p.Lys364Asn) c.351G>C (p.Lys117Asn) | |
8 | g.11757032G>T | CA370315412 | GATA4 | c.1095G>T (p.Lys365Asn) c.1098G>T (p.Lys366Asn) n.540G>T c.477G>T (p.Lys159Asn) c.1092G>T (p.Lys364Asn) c.351G>T (p.Lys117Asn) | |
8 | g.11757033A= | CA1764072505 | GATA4 | c.1096A= (p.Thr366=) c.1099A= (p.Thr367=) n.541A= c.478A= (p.Thr160=) c.1093A= (p.Thr365=) c.352A= (p.Thr118=) | |
8 | g.11757033A>C | CA370315413 | GATA4 | c.1096A>C (p.Thr366Pro) c.1099A>C (p.Thr367Pro) n.541A>C c.478A>C (p.Thr160Pro) c.1093A>C (p.Thr365Pro) c.352A>C (p.Thr118Pro) | |
8 | g.11757033A>G | CA370315414 | GATA4 | c.1096A>G (p.Thr366Ala) c.1099A>G (p.Thr367Ala) n.541A>G c.478A>G (p.Thr160Ala) c.1093A>G (p.Thr365Ala) c.352A>G (p.Thr118Ala) | gnomAD v4 |
8 | g.11757033A>T | CA4630826 | GATA4 | c.1096A>T (p.Thr366Ser) c.1099A>T (p.Thr367Ser) n.541A>T c.478A>T (p.Thr160Ser) c.1093A>T (p.Thr365Ser) c.352A>T (p.Thr118Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11757034C>A | CA370315415 | GATA4 | c.1097C>A (p.Thr366Lys) c.1100C>A (p.Thr367Lys) n.542C>A c.479C>A (p.Thr160Lys) c.1094C>A (p.Thr365Lys) c.353C>A (p.Thr118Lys) | COSMIC |
8 | g.11757034C= | CA1764072508 | GATA4 | c.1097C= (p.Thr366=) c.1100C= (p.Thr367=) n.542C= c.479C= (p.Thr160=) c.1094C= (p.Thr365=) c.353C= (p.Thr118=) | |
8 | g.11757034C>G | CA370315416 | GATA4 | c.1097C>G (p.Thr366Arg) c.1100C>G (p.Thr367Arg) n.542C>G c.479C>G (p.Thr160Arg) c.1094C>G (p.Thr365Arg) c.353C>G (p.Thr118Arg) | ClinVar dbSNP gnomAD v4 |
8 | g.11757034C>T | CA4630827 | GATA4 | c.1097C>T (p.Thr366Met) c.1100C>T (p.Thr367Met) n.542C>T c.479C>T (p.Thr160Met) c.1094C>T (p.Thr365Met) c.353C>T (p.Thr118Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.11757035G>A | CA172120438 | GATA4 | c.1098G>A (p.Thr366=) c.1101G>A (p.Thr367=) n.543G>A c.480G>A (p.Thr160=) c.1095G>A (p.Thr365=) c.354G>A (p.Thr118=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11757035G>C | CA4630828 | GATA4 | c.1098G>C (p.Thr366=) c.1101G>C (p.Thr367=) n.543G>C c.480G>C (p.Thr160=) c.1095G>C (p.Thr365=) c.354G>C (p.Thr118=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11757035G= | CA1764072513 | GATA4 | c.1098G= (p.Thr366=) c.1101G= (p.Thr367=) n.543G= c.480G= (p.Thr160=) c.1095G= (p.Thr365=) c.354G= (p.Thr118=) | |
8 | g.11757035G>T | CA459313704 | GATA4 | c.1098G>T (p.Thr366=) c.1101G>T (p.Thr367=) n.543G>T c.480G>T (p.Thr160=) c.1095G>T (p.Thr365=) c.354G>T (p.Thr118=) | |
8 | g.11757036G>A | CA370315419 | GATA4 | c.1099G>A (p.Glu367Lys) c.1102G>A (p.Glu368Lys) n.544G>A c.481G>A (p.Glu161Lys) c.1096G>A (p.Glu366Lys) c.355G>A (p.Glu119Lys) | |
8 | g.11757036G>C | CA370315417 | GATA4 | c.1099G>C (p.Glu367Gln) c.1102G>C (p.Glu368Gln) n.544G>C c.481G>C (p.Glu161Gln) c.1096G>C (p.Glu366Gln) c.355G>C (p.Glu119Gln) | |
8 | g.11757036G>T | CA370315418 | GATA4 | c.1099G>T (p.Glu367Ter) c.1102G>T (p.Glu368Ter) n.544G>T c.481G>T (p.Glu161Ter) c.1096G>T (p.Glu366Ter) c.355G>T (p.Glu119Ter) | |
8 | g.11757037A>C | CA370315420 | GATA4 | c.1100A>C (p.Glu367Ala) c.1103A>C (p.Glu368Ala) n.545A>C c.482A>C (p.Glu161Ala) c.1097A>C (p.Glu366Ala) c.356A>C (p.Glu119Ala) | gnomAD v4 |
8 | g.11757037A>G | CA370315421 | GATA4 | c.1100A>G (p.Glu367Gly) c.1103A>G (p.Glu368Gly) n.545A>G c.482A>G (p.Glu161Gly) c.1097A>G (p.Glu366Gly) c.356A>G (p.Glu119Gly) | |
8 | g.11757037A>T | CA370315422 | GATA4 | c.1100A>T (p.Glu367Val) c.1103A>T (p.Glu368Val) n.545A>T c.482A>T (p.Glu161Val) c.1097A>T (p.Glu366Val) c.356A>T (p.Glu119Val) | |
8 | g.11757038G>A | CA4630829 | GATA4 | c.1101G>A (p.Glu367=) c.1104G>A (p.Glu368=) n.546G>A c.483G>A (p.Glu161=) c.1098G>A (p.Glu366=) c.357G>A (p.Glu119=) | ClinVar dbSNP ExAC gnomAD v2 |
8 | g.11757038G>C | CA370315423 | GATA4 | c.1101G>C (p.Glu367Asp) c.1104G>C (p.Glu368Asp) n.546G>C c.483G>C (p.Glu161Asp) c.1098G>C (p.Glu366Asp) c.357G>C (p.Glu119Asp) | gnomAD v4 |
8 | g.11757038G= | CA1764072521 | GATA4 | c.1101G= (p.Glu367=) c.1104G= (p.Glu368=) n.546G= c.483G= (p.Glu161=) c.1098G= (p.Glu366=) c.357G= (p.Glu119=) | |
8 | g.11757038G>T | CA370315424 | GATA4 | c.1101G>T (p.Glu367Asp) c.1104G>T (p.Glu368Asp) n.546G>T c.483G>T (p.Glu161Asp) c.1098G>T (p.Glu366Asp) c.357G>T (p.Glu119Asp) | dbSNP |