Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.11755069G>A | CA459313453 | GATA4 | c.933G>A (p.Arg311=) c.936G>A (p.Arg312=) c.315G>A (p.Arg105=) c.930G>A (p.Arg310=) c.189G>A (p.Arg63=) | COSMIC |
8 | g.11755069G>C | CA459313454 | GATA4 | c.933G>C (p.Arg311=) c.936G>C (p.Arg312=) c.315G>C (p.Arg105=) c.930G>C (p.Arg310=) c.189G>C (p.Arg63=) | |
8 | g.11755069G>T | CA459313455 | GATA4 | c.933G>T (p.Arg311=) c.936G>T (p.Arg312=) c.315G>T (p.Arg105=) c.930G>T (p.Arg310=) c.189G>T (p.Arg63=) | |
8 | g.11755070A>C | CA370314395 | GATA4 | c.934A>C (p.Lys312Gln) c.937A>C (p.Lys313Gln) c.316A>C (p.Lys106Gln) c.931A>C (p.Lys311Gln) c.190A>C (p.Lys64Gln) | |
8 | g.11755070A>G | CA370314393 | GATA4 | c.934A>G (p.Lys312Glu) c.937A>G (p.Lys313Glu) c.316A>G (p.Lys106Glu) c.931A>G (p.Lys311Glu) c.190A>G (p.Lys64Glu) | |
8 | g.11755070A>T | CA370314394 | GATA4 | c.934A>T (p.Lys312Ter) c.937A>T (p.Lys313Ter) c.316A>T (p.Lys106Ter) c.931A>T (p.Lys311Ter) c.190A>T (p.Lys64Ter) | |
8 | g.11755071A>C | CA370314396 | GATA4 | c.935A>C (p.Lys312Thr) c.938A>C (p.Lys313Thr) c.317A>C (p.Lys106Thr) c.932A>C (p.Lys311Thr) c.191A>C (p.Lys64Thr) | |
8 | g.11755071A>G | CA370314397 | GATA4 | c.935A>G (p.Lys312Arg) c.938A>G (p.Lys313Arg) c.317A>G (p.Lys106Arg) c.932A>G (p.Lys311Arg) c.191A>G (p.Lys64Arg) | |
8 | g.11755071A>T | CA370314398 | GATA4 | c.935A>T (p.Lys312Ile) c.938A>T (p.Lys313Ile) c.317A>T (p.Lys106Ile) c.932A>T (p.Lys311Ile) c.191A>T (p.Lys64Ile) | |
8 | g.11755072A= | CA1764070126 | GATA4 | c.936A= (p.Lys312=) c.939A= (p.Lys313=) c.318A= (p.Lys106=) c.933A= (p.Lys311=) c.192A= (p.Lys64=) | |
8 | g.11755072A>C | CA370314400 | GATA4 | c.936A>C (p.Lys312Asn) c.939A>C (p.Lys313Asn) c.318A>C (p.Lys106Asn) c.933A>C (p.Lys311Asn) c.192A>C (p.Lys64Asn) | |
8 | g.11755072A>G | CA459313456 | GATA4 | c.936A>G (p.Lys312=) c.939A>G (p.Lys313=) c.318A>G (p.Lys106=) c.933A>G (p.Lys311=) c.192A>G (p.Lys64=) | dbSNP |
8 | g.11755072A>T | CA370314401 | GATA4 | c.936A>T (p.Lys312Asn) c.939A>T (p.Lys313Asn) c.318A>T (p.Lys106Asn) c.933A>T (p.Lys311Asn) c.192A>T (p.Lys64Asn) | |
8 | g.11755073G>A | CA370314402 | GATA4 | c.937G>A (p.Glu313Lys) c.940G>A (p.Glu314Lys) c.319G>A (p.Glu107Lys) c.934G>A (p.Glu312Lys) c.193G>A (p.Glu65Lys) | |
8 | g.11755073G>C | CA370314403 | GATA4 | c.937G>C (p.Glu313Gln) c.940G>C (p.Glu314Gln) c.319G>C (p.Glu107Gln) c.934G>C (p.Glu312Gln) c.193G>C (p.Glu65Gln) | |
8 | g.11755073G>T | CA370314404 | GATA4 | c.937G>T (p.Glu313Ter) c.940G>T (p.Glu314Ter) c.319G>T (p.Glu107Ter) c.934G>T (p.Glu312Ter) c.193G>T (p.Glu65Ter) | |
8 | g.11755074A>C | CA370314406 | GATA4 | c.938A>C (p.Glu313Ala) c.941A>C (p.Glu314Ala) c.320A>C (p.Glu107Ala) c.935A>C (p.Glu312Ala) c.194A>C (p.Glu65Ala) | |
8 | g.11755074A>G | CA370314407 | GATA4 | c.938A>G (p.Glu313Gly) c.941A>G (p.Glu314Gly) c.320A>G (p.Glu107Gly) c.935A>G (p.Glu312Gly) c.194A>G (p.Glu65Gly) | |
8 | g.11755074A>T | CA370314409 | GATA4 | c.938A>T (p.Glu313Val) c.941A>T (p.Glu314Val) c.320A>T (p.Glu107Val) c.935A>T (p.Glu312Val) c.194A>T (p.Glu65Val) | |
8 | g.11755075G>A | CA4630763 | GATA4 | c.939G>A (p.Glu313=) c.942G>A (p.Glu314=) c.321G>A (p.Glu107=) c.936G>A (p.Glu312=) c.195G>A (p.Glu65=) | dbSNP ExAC gnomAD v2 |
8 | g.11755075G>C | CA370314411 | GATA4 | c.939G>C (p.Glu313Asp) c.942G>C (p.Glu314Asp) c.321G>C (p.Glu107Asp) c.936G>C (p.Glu312Asp) c.195G>C (p.Glu65Asp) | |
8 | g.11755075G= | CA1764070129 | GATA4 | c.939G= (p.Glu313=) c.942G= (p.Glu314=) c.321G= (p.Glu107=) c.936G= (p.Glu312=) c.195G= (p.Glu65=) | |
8 | g.11755075G>T | CA4630762 | GATA4 | c.939G>T (p.Glu313Asp) c.942G>T (p.Glu314Asp) c.321G>T (p.Glu107Asp) c.936G>T (p.Glu312Asp) c.195G>T (p.Glu65Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11755076G>A | CA4630764 | GATA4 | c.940G>A (p.Gly314Arg) c.943G>A (p.Gly315Arg) c.322G>A (p.Gly108Arg) c.937G>A (p.Gly313Arg) c.196G>A (p.Gly66Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11755076G>C | CA370314412 | GATA4 | c.940G>C (p.Gly314Arg) c.943G>C (p.Gly315Arg) c.322G>C (p.Gly108Arg) c.937G>C (p.Gly313Arg) c.196G>C (p.Gly66Arg) | |
8 | g.11755076G= | CA1764070137 | GATA4 | c.940G= (p.Gly314=) c.943G= (p.Gly315=) c.322G= (p.Gly108=) c.937G= (p.Gly313=) c.196G= (p.Gly66=) | |
8 | g.11755076G>T | CA370314413 | GATA4 | c.940G>T (p.Gly314Trp) c.943G>T (p.Gly315Trp) c.322G>T (p.Gly108Trp) c.937G>T (p.Gly313Trp) c.196G>T (p.Gly66Trp) | |
8 | g.11755077G>A | CA370314415 | GATA4 | c.941G>A (p.Gly314Glu) c.944G>A (p.Gly315Glu) c.323G>A (p.Gly108Glu) c.938G>A (p.Gly313Glu) c.197G>A (p.Gly66Glu) | dbSNP gnomAD v4 |
8 | g.11755077G>C | CA370314417 | GATA4 | c.941G>C (p.Gly314Ala) c.944G>C (p.Gly315Ala) c.323G>C (p.Gly108Ala) c.938G>C (p.Gly313Ala) c.197G>C (p.Gly66Ala) | |
8 | g.11755077G= | CA1764070141 | GATA4 | c.941G= (p.Gly314=) c.944G= (p.Gly315=) c.323G= (p.Gly108=) c.938G= (p.Gly313=) c.197G= (p.Gly66=) | |
8 | g.11755077G>T | CA370314418 | GATA4 | c.941G>T (p.Gly314Val) c.944G>T (p.Gly315Val) c.323G>T (p.Gly108Val) c.938G>T (p.Gly313Val) c.197G>T (p.Gly66Val) | dbSNP |
8 | g.11755078G>A | CA459313458 | GATA4 | c.942G>A (p.Gly314=) c.945G>A (p.Gly315=) c.324G>A (p.Gly108=) c.939G>A (p.Gly313=) c.198G>A (p.Gly66=) | |
8 | g.11755078G>C | CA4630765 | GATA4 | c.942G>C (p.Gly314=) c.945G>C (p.Gly315=) c.324G>C (p.Gly108=) c.939G>C (p.Gly313=) c.198G>C (p.Gly66=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11755078G= | CA1764070144 | GATA4 | c.942G= (p.Gly314=) c.945G= (p.Gly315=) c.324G= (p.Gly108=) c.939G= (p.Gly313=) c.198G= (p.Gly66=) | |
8 | g.11755078G>T | CA459313459 | GATA4 | c.942G>T (p.Gly314=) c.945G>T (p.Gly315=) c.324G>T (p.Gly108=) c.939G>T (p.Gly313=) c.198G>T (p.Gly66=) | gnomAD v4 |
8 | g.11755079A>C | CA370314420 | GATA4 | c.943A>C (p.Ile315Leu) c.946A>C (p.Ile316Leu) c.325A>C (p.Ile109Leu) c.940A>C (p.Ile314Leu) c.199A>C (p.Ile67Leu) | |
8 | g.11755079A>G | CA370314422 | GATA4 | c.943A>G (p.Ile315Val) c.946A>G (p.Ile316Val) c.325A>G (p.Ile109Val) c.940A>G (p.Ile314Val) c.199A>G (p.Ile67Val) | |
8 | g.11755079A>T | CA370314423 | GATA4 | c.943A>T (p.Ile315Phe) c.946A>T (p.Ile316Phe) c.325A>T (p.Ile109Phe) c.940A>T (p.Ile314Phe) c.199A>T (p.Ile67Phe) | |
8 | g.11755080T>A | CA370314425 | GATA4 | c.944T>A (p.Ile315Asn) c.947T>A (p.Ile316Asn) c.326T>A (p.Ile109Asn) c.941T>A (p.Ile314Asn) c.200T>A (p.Ile67Asn) | |
8 | g.11755080T>C | CA370314427 | GATA4 | c.944T>C (p.Ile315Thr) c.947T>C (p.Ile316Thr) c.326T>C (p.Ile109Thr) c.941T>C (p.Ile314Thr) c.200T>C (p.Ile67Thr) | |
8 | g.11755080T>G | CA370314428 | GATA4 | c.944T>G (p.Ile315Ser) c.947T>G (p.Ile316Ser) c.326T>G (p.Ile109Ser) c.941T>G (p.Ile314Ser) c.200T>G (p.Ile67Ser) | |
8 | g.11755081C>A | CA459313462 | GATA4 | c.945C>A (p.Ile315=) c.948C>A (p.Ile316=) c.327C>A (p.Ile109=) c.942C>A (p.Ile314=) c.201C>A (p.Ile67=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11755081C= | CA1764070148 | GATA4 | c.945C= (p.Ile315=) c.948C= (p.Ile316=) c.327C= (p.Ile109=) c.942C= (p.Ile314=) c.201C= (p.Ile67=) | |
8 | g.11755081C>G | CA370314429 | GATA4 | c.945C>G (p.Ile315Met) c.948C>G (p.Ile316Met) c.327C>G (p.Ile109Met) c.942C>G (p.Ile314Met) c.201C>G (p.Ile67Met) | dbSNP |
8 | g.11755081C>T | CA459313463 | GATA4 | c.945C>T (p.Ile315=) c.948C>T (p.Ile316=) c.327C>T (p.Ile109=) c.942C>T (p.Ile314=) c.201C>T (p.Ile67=) | |
8 | g.11755082C>A | CA370314432 | GATA4 | c.946C>A (p.Gln316Lys) c.949C>A (p.Gln317Lys) c.328C>A (p.Gln110Lys) c.943C>A (p.Gln315Lys) c.202C>A (p.Gln68Lys) | |
8 | g.11755082C= | CA1764070152 | GATA4 | c.946C= (p.Gln316=) c.949C= (p.Gln317=) c.328C= (p.Gln110=) c.943C= (p.Gln315=) c.202C= (p.Gln68=) | |
8 | g.11755082C>G | CA212663 | GATA4 | c.946C>G (p.Gln316Glu) c.949C>G (p.Gln317Glu) c.328C>G (p.Gln110Glu) c.943C>G (p.Gln315Glu) c.202C>G (p.Gln68Glu) | ClinVar dbSNP |
8 | g.11755082C>T | CA4630766 | GATA4 | c.946C>T (p.Gln316Ter) c.949C>T (p.Gln317Ter) c.328C>T (p.Gln110Ter) c.943C>T (p.Gln315Ter) c.202C>T (p.Gln68Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11755083A>C | CA370314433 | GATA4 | c.947A>C (p.Gln316Pro) c.950A>C (p.Gln317Pro) c.329A>C (p.Gln110Pro) c.944A>C (p.Gln315Pro) c.203A>C (p.Gln68Pro) |