Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.52153962_52153967delinsCTCTTA | CA2177210955 | GNB5 | c.348_353delinsTAAGAG (p.Asp116=) c.222_227delinsTAAGAG (p.Asp74=) n.379_384delinsTAAGAG c.66_71delinsTAAGAG (p.Asp22=) n.300_305delinsTAAGAG | |
15 | g.52153967_52153971del | CA645293893 | GNB5 | c.348_352del (p.Asp116GlufsTer?) c.222_226del (p.Asp74GlufsTer?) n.379_383del c.66_70del (p.Asp22GlufsTer?) n.300_304del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.52153967A>C | CA392482727 | GNB5 | c.348T>G (p.Asp116Glu) c.222T>G (p.Asp74Glu) n.379T>G c.66T>G (p.Asp22Glu) n.300T>G | |
15 | g.52153967A>G | CA490403682 | GNB5 | c.348T>C (p.Asp116=) c.222T>C (p.Asp74=) n.379T>C c.66T>C (p.Asp22=) n.300T>C | gnomAD v4 |
15 | g.52153967A>T | CA392482737 | GNB5 | c.348T>A (p.Asp116Glu) c.222T>A (p.Asp74Glu) n.379T>A c.66T>A (p.Asp22Glu) n.300T>A | gnomAD v4 |
15 | g.52153968T>A | CA392482743 | GNB5 | c.347A>T (p.Asp116Val) c.221A>T (p.Asp74Val) n.378A>T c.65A>T (p.Asp22Val) n.299A>T | |
15 | g.52153968T>C | CA392482744 | GNB5 | c.347A>G (p.Asp116Gly) c.221A>G (p.Asp74Gly) n.378A>G c.65A>G (p.Asp22Gly) n.299A>G | |
15 | g.52153968T>G | CA392482745 | GNB5 | c.347A>C (p.Asp116Ala) c.221A>C (p.Asp74Ala) n.378A>C c.65A>C (p.Asp22Ala) n.299A>C | |
15 | g.52153969C>A | CA392482747 | GNB5 | c.346G>T (p.Asp116Tyr) c.220G>T (p.Asp74Tyr) n.377G>T c.64G>T (p.Asp22Tyr) n.298G>T | |
15 | g.52153969C>G | CA392482751 | GNB5 | c.346G>C (p.Asp116His) c.220G>C (p.Asp74His) n.377G>C c.64G>C (p.Asp22His) n.298G>C | |
15 | g.52153969C>T | CA392482755 | GNB5 | c.346G>A (p.Asp116Asn) c.220G>A (p.Asp74Asn) n.377G>A c.64G>A (p.Asp22Asn) n.298G>A | |
15 | g.52153970T>A | CA392482760 | GNB5 | c.345A>T (p.Lys115Asn) c.219A>T (p.Lys73Asn) n.376A>T c.63A>T (p.Lys21Asn) n.297A>T | |
15 | g.52153970T>C | CA490403683 | GNB5 | c.345A>G (p.Lys115=) c.219A>G (p.Lys73=) n.376A>G c.63A>G (p.Lys21=) n.297A>G | gnomAD v4 |
15 | g.52153970T>G | CA392482761 | GNB5 | c.345A>C (p.Lys115Asn) c.219A>C (p.Lys73Asn) n.376A>C c.63A>C (p.Lys21Asn) n.297A>C | |
15 | g.52153971T>A | CA392482762 | GNB5 | c.344A>T (p.Lys115Ile) c.218A>T (p.Lys73Ile) n.375A>T c.62A>T (p.Lys21Ile) n.296A>T | |
15 | g.52153971T>C | CA392482763 | GNB5 | c.344A>G (p.Lys115Arg) c.218A>G (p.Lys73Arg) n.375A>G c.62A>G (p.Lys21Arg) n.296A>G | COSMIC |
15 | g.52153971T>G | CA7565876 | GNB5 | c.344A>C (p.Lys115Thr) c.218A>C (p.Lys73Thr) n.375A>C c.62A>C (p.Lys21Thr) n.296A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.52153971T= | CA2177210971 | GNB5 | c.344A= (p.Lys115=) c.218A= (p.Lys73=) n.375A= c.62A= (p.Lys21=) n.296A= | |
15 | g.52153972T>A | CA392482765 | GNB5 | c.343A>T (p.Lys115Ter) c.217A>T (p.Lys73Ter) n.374A>T c.61A>T (p.Lys21Ter) n.295A>T | |
15 | g.52153972T>C | CA392482768 | GNB5 | c.343A>G (p.Lys115Glu) c.217A>G (p.Lys73Glu) n.374A>G c.61A>G (p.Lys21Glu) n.295A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.52153972T>G | CA392482774 | GNB5 | c.343A>C (p.Lys115Gln) c.217A>C (p.Lys73Gln) n.374A>C c.61A>C (p.Lys21Gln) n.295A>C | gnomAD v4 |
15 | g.52153972T= | CA2177210973 | GNB5 | c.343A= (p.Lys115=) c.217A= (p.Lys73=) n.374A= c.61A= (p.Lys21=) n.295A= | |
15 | g.52153973G>A | CA490403684 | GNB5 | c.342C>T (p.Cys114=) c.216C>T (p.Cys72=) n.373C>T c.60C>T (p.Cys20=) n.294C>T | |
15 | g.52153973G>C | CA392482777 | GNB5 | c.342C>G (p.Cys114Trp) c.216C>G (p.Cys72Trp) n.373C>G c.60C>G (p.Cys20Trp) n.294C>G | |
15 | g.52153973G>T | CA392482784 | GNB5 | c.342C>A (p.Cys114Ter) c.216C>A (p.Cys72Ter) n.373C>A c.60C>A (p.Cys20Ter) n.294C>A | |
15 | g.52153974C>A | CA392482791 | GNB5 | c.341G>T (p.Cys114Phe) c.215G>T (p.Cys72Phe) n.372G>T c.59G>T (p.Cys20Phe) n.293G>T | |
15 | g.52153974C= | CA2177210976 | GNB5 | c.341G= (p.Cys114=) c.215G= (p.Cys72=) n.372G= c.59G= (p.Cys20=) n.293G= | |
15 | g.52153974C>G | CA392482792 | GNB5 | c.341G>C (p.Cys114Ser) c.215G>C (p.Cys72Ser) n.372G>C c.59G>C (p.Cys20Ser) n.293G>C | |
15 | g.52153974C>T | CA392482793 | GNB5 | c.341G>A (p.Cys114Tyr) c.215G>A (p.Cys72Tyr) n.372G>A c.59G>A (p.Cys20Tyr) n.293G>A | dbSNP gnomAD v3 gnomAD v4 |
15 | g.52153975A= | CA2177210983 | GNB5 | c.340T= (p.Cys114=) c.214T= (p.Cys72=) n.371T= c.58T= (p.Cys20=) n.292T= | |
15 | g.52153975A>C | CA392482795 | GNB5 | c.340T>G (p.Cys114Gly) c.214T>G (p.Cys72Gly) n.371T>G c.58T>G (p.Cys20Gly) n.292T>G | |
15 | g.52153975A>G | CA392482799 | GNB5 | c.340T>C (p.Cys114Arg) c.214T>C (p.Cys72Arg) n.371T>C c.58T>C (p.Cys20Arg) n.292T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.52153975A>T | CA392482806 | GNB5 | c.340T>A (p.Cys114Ser) c.214T>A (p.Cys72Ser) n.371T>A c.58T>A (p.Cys20Ser) n.292T>A | |
15 | g.52153976C>A | CA392482829 | GNB5 | c.339G>T (p.Trp113Cys) c.213G>T (p.Trp71Cys) n.370G>T c.57G>T (p.Trp19Cys) n.291G>T | |
15 | g.52153976C= | CA2177210987 | GNB5 | c.339G= (p.Trp113=) c.213G= (p.Trp71=) n.370G= c.57G= (p.Trp19=) n.291G= | |
15 | g.52153976C>G | CA7565877 | GNB5 | c.339G>C (p.Trp113Cys) c.213G>C (p.Trp71Cys) n.370G>C c.57G>C (p.Trp19Cys) n.291G>C | dbSNP ExAC gnomAD v2 |
15 | g.52153976C>T | CA392482814 | GNB5 | c.339G>A (p.Trp113Ter) c.213G>A (p.Trp71Ter) n.370G>A c.57G>A (p.Trp19Ter) n.291G>A | |
15 | g.52153977del | CA2628513919 | GNB5 | c.339del (p.Trp113CysfsTer9) c.213del (p.Trp71CysfsTer9) n.370del c.57del (p.Trp19CysfsTer9) n.291del | gnomAD v4 |
15 | g.52153977C>A | CA392482859 | GNB5 | c.338G>T (p.Trp113Leu) c.212G>T (p.Trp71Leu) n.369G>T c.56G>T (p.Trp19Leu) n.290G>T | |
15 | g.52153977C>G | CA392482843 | GNB5 | c.338G>C (p.Trp113Ser) c.212G>C (p.Trp71Ser) n.369G>C c.56G>C (p.Trp19Ser) n.290G>C | |
15 | g.52153977C>T | CA392482858 | GNB5 | c.338G>A (p.Trp113Ter) c.212G>A (p.Trp71Ter) n.369G>A c.56G>A (p.Trp19Ter) n.290G>A | gnomAD v4 |
15 | g.52153978A= | CA2177210992 | GNB5 | c.337T= (p.Trp113=) c.211T= (p.Trp71=) n.368T= c.55T= (p.Trp19=) n.289T= | |
15 | g.52153978A>C | CA392482860 | GNB5 | c.337T>G (p.Trp113Gly) c.211T>G (p.Trp71Gly) n.368T>G c.55T>G (p.Trp19Gly) n.289T>G | |
15 | g.52153978A>G | CA7565878 | GNB5 | c.337T>C (p.Trp113Arg) c.211T>C (p.Trp71Arg) n.368T>C c.55T>C (p.Trp19Arg) n.289T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.52153978A>T | CA392482868 | GNB5 | c.337T>A (p.Trp113Arg) c.211T>A (p.Trp71Arg) n.368T>A c.55T>A (p.Trp19Arg) n.289T>A | |
15 | g.52153979G>A | CA7565879 | GNB5 | c.336C>T (p.Asp112=) c.210C>T (p.Asp70=) n.367C>T c.54C>T (p.Asp18=) n.288C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.52153979G>C | CA392482882 | GNB5 | c.336C>G (p.Asp112Glu) c.210C>G (p.Asp70Glu) n.367C>G c.54C>G (p.Asp18Glu) n.288C>G | |
15 | g.52153979G= | CA2177210998 | GNB5 | c.336C= (p.Asp112=) c.210C= (p.Asp70=) n.367C= c.54C= (p.Asp18=) n.288C= | |
15 | g.52153979G>T | CA392482872 | GNB5 | c.336C>A (p.Asp112Glu) c.210C>A (p.Asp70Glu) n.367C>A c.54C>A (p.Asp18Glu) n.288C>A | dbSNP |
15 | g.52153980T>A | CA392482888 | GNB5 | c.335A>T (p.Asp112Val) c.209A>T (p.Asp70Val) n.366A>T c.53A>T (p.Asp18Val) n.287A>T | |
15 | g.52153980T>C | CA392482889 | GNB5 | c.335A>G (p.Asp112Gly) c.209A>G (p.Asp70Gly) n.366A>G c.53A>G (p.Asp18Gly) n.287A>G | |
15 | g.52153980T>G | CA392482892 | GNB5 | c.335A>C (p.Asp112Ala) c.209A>C (p.Asp70Ala) n.366A>C c.53A>C (p.Asp18Ala) n.287A>C | |
15 | g.52153981C>A | CA392482909 | GNB5 | c.334G>T (p.Asp112Tyr) c.208G>T (p.Asp70Tyr) n.365G>T c.52G>T (p.Asp18Tyr) n.286G>T | |
15 | g.52153981C>G | CA392482910 | GNB5 | c.334G>C (p.Asp112His) c.208G>C (p.Asp70His) n.365G>C c.52G>C (p.Asp18His) n.286G>C | |
15 | g.52153981C>T | CA392482919 | GNB5 | c.334G>A (p.Asp112Asn) c.208G>A (p.Asp70Asn) n.365G>A c.52G>A (p.Asp18Asn) n.286G>A | gnomAD v4 |
15 | g.52153982C>A | CA392482923 | GNB5 | c.333G>T (p.Met111Ile) c.207G>T (p.Met69Ile) n.364G>T c.51G>T (p.Met17Ile) n.285G>T | |
15 | g.52153982C>G | CA392482932 | GNB5 | c.333G>C (p.Met111Ile) c.207G>C (p.Met69Ile) n.364G>C c.51G>C (p.Met17Ile) n.285G>C | |
15 | g.52153982C>T | CA392482925 | GNB5 | c.333G>A (p.Met111Ile) c.207G>A (p.Met69Ile) n.364G>A c.51G>A (p.Met17Ile) n.285G>A | |
15 | g.52153983A>C | CA392482937 | GNB5 | c.332T>G (p.Met111Arg) c.206T>G (p.Met69Arg) n.363T>G c.50T>G (p.Met17Arg) n.284T>G | |
15 | g.52153983A>G | CA392482938 | GNB5 | c.332T>C (p.Met111Thr) c.206T>C (p.Met69Thr) n.363T>C c.50T>C (p.Met17Thr) n.284T>C | |
15 | g.52153983A>T | CA392482939 | GNB5 | c.332T>A (p.Met111Lys) c.206T>A (p.Met69Lys) n.363T>A c.50T>A (p.Met17Lys) n.284T>A | |
15 | g.52153984T>A | CA392482941 | GNB5 | c.331A>T (p.Met111Leu) c.205A>T (p.Met69Leu) n.362A>T c.49A>T (p.Met17Leu) n.283A>T | |
15 | g.52153984T>C | CA7565880 | GNB5 | c.331A>G (p.Met111Val) c.205A>G (p.Met69Val) n.362A>G c.49A>G (p.Met17Val) n.283A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.52153984T>G | CA392482948 | GNB5 | c.331A>C (p.Met111Leu) c.205A>C (p.Met69Leu) n.362A>C c.49A>C (p.Met17Leu) n.283A>C | |
15 | g.52153984T= | CA2177211001 | GNB5 | c.331A= (p.Met111=) c.205A= (p.Met69=) n.362A= c.49A= (p.Met17=) n.283A= | |
15 | g.52153985G>A | CA490403685 | GNB5 | c.330C>T (p.Cys110=) c.204C>T (p.Cys68=) n.361C>T c.48C>T (p.Cys16=) n.282C>T | dbSNP gnomAD v4 |
15 | g.52153985G>C | CA392482956 | GNB5 | c.330C>G (p.Cys110Trp) c.204C>G (p.Cys68Trp) n.361C>G c.48C>G (p.Cys16Trp) n.282C>G | |
15 | g.52153985G= | CA2177211005 | GNB5 | c.330C= (p.Cys110=) c.204C= (p.Cys68=) n.361C= c.48C= (p.Cys16=) n.282C= | |
15 | g.52153985G>T | CA392482971 | GNB5 | c.330C>A (p.Cys110Ter) c.204C>A (p.Cys68Ter) n.361C>A c.48C>A (p.Cys16Ter) n.282C>A | |
15 | g.52153986C>A | CA392482998 | GNB5 | c.329G>T (p.Cys110Phe) c.203G>T (p.Cys68Phe) n.360G>T c.47G>T (p.Cys16Phe) n.281G>T | |
15 | g.52153986C>G | CA392483000 | GNB5 | c.329G>C (p.Cys110Ser) c.203G>C (p.Cys68Ser) n.360G>C c.47G>C (p.Cys16Ser) n.281G>C | |
15 | g.52153986C>T | CA392483002 | GNB5 | c.329G>A (p.Cys110Tyr) c.203G>A (p.Cys68Tyr) n.360G>A c.47G>A (p.Cys16Tyr) n.281G>A | |
15 | g.52153987A>C | CA392483024 | GNB5 | c.328T>G (p.Cys110Gly) c.202T>G (p.Cys68Gly) n.359T>G c.46T>G (p.Cys16Gly) n.280T>G | gnomAD v4 |
15 | g.52153987A>G | CA392483019 | GNB5 | c.328T>C (p.Cys110Arg) c.202T>C (p.Cys68Arg) n.359T>C c.46T>C (p.Cys16Arg) n.280T>C | |
15 | g.52153987A>T | CA392483011 | GNB5 | c.328T>A (p.Cys110Ser) c.202T>A (p.Cys68Ser) n.359T>A c.46T>A (p.Cys16Ser) n.280T>A | |
15 | g.52153988C>A | CA490403686 | GNB5 | c.327G>T (p.Leu109=) c.201G>T (p.Leu67=) n.358G>T c.45G>T (p.Leu15=) n.279G>T | |
15 | g.52153988C= | CA2177211008 | GNB5 | c.327G= (p.Leu109=) c.201G= (p.Leu67=) n.358G= c.45G= (p.Leu15=) n.279G= | |
15 | g.52153988C>G | CA490403687 | GNB5 | c.327G>C (p.Leu109=) c.201G>C (p.Leu67=) n.358G>C c.45G>C (p.Leu15=) n.279G>C | |
15 | g.52153988C>T | CA7565881 | GNB5 | c.327G>A (p.Leu109=) c.201G>A (p.Leu67=) n.358G>A c.45G>A (p.Leu15=) n.279G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.52153989A= | CA2177211011 | GNB5 | c.326T= (p.Leu109=) c.200T= (p.Leu67=) n.357T= c.44T= (p.Leu15=) n.278T= | |
15 | g.52153989A>C | CA392483026 | GNB5 | c.326T>G (p.Leu109Arg) c.200T>G (p.Leu67Arg) n.357T>G c.44T>G (p.Leu15Arg) n.278T>G | |
15 | g.52153989A>G | CA392483032 | GNB5 | c.326T>C (p.Leu109Pro) c.200T>C (p.Leu67Pro) n.357T>C c.44T>C (p.Leu15Pro) n.278T>C | |
15 | g.52153989A>T | CA270649678 | GNB5 | c.326T>A (p.Leu109Gln) c.200T>A (p.Leu67Gln) n.357T>A c.44T>A (p.Leu15Gln) n.278T>A | dbSNP gnomAD v4 |
15 | g.52153990G>A | CA490403688 | GNB5 | c.325C>T (p.Leu109=) c.199C>T (p.Leu67=) n.356C>T c.43C>T (p.Leu15=) n.277C>T | gnomAD v4 |
15 | g.52153990G>C | CA392483036 | GNB5 | c.325C>G (p.Leu109Val) c.199C>G (p.Leu67Val) n.356C>G c.43C>G (p.Leu15Val) n.277C>G | |
15 | g.52153990G>T | CA392483038 | GNB5 | c.325C>A (p.Leu109Met) c.199C>A (p.Leu67Met) n.356C>A c.43C>A (p.Leu15Met) n.277C>A | |
15 | g.52153991G>A | CA490403689 | GNB5 | c.324C>T (p.Val108=) c.198C>T (p.Val66=) n.355C>T c.42C>T (p.Val14=) n.276C>T | gnomAD v4 |
15 | g.52153991G>C | CA490403690 | GNB5 | c.324C>G (p.Val108=) c.198C>G (p.Val66=) n.355C>G c.42C>G (p.Val14=) n.276C>G | |
15 | g.52153991G>T | CA490403691 | GNB5 | c.324C>A (p.Val108=) c.198C>A (p.Val66=) n.355C>A c.42C>A (p.Val14=) n.276C>A | |
15 | g.52153992A>C | CA392483068 | GNB5 | c.323T>G (p.Val108Gly) c.197T>G (p.Val66Gly) n.354T>G c.41T>G (p.Val14Gly) n.275T>G | |
15 | g.52153992A>G | CA392483054 | GNB5 | c.323T>C (p.Val108Ala) c.197T>C (p.Val66Ala) n.354T>C c.41T>C (p.Val14Ala) n.275T>C | |
15 | g.52153992A>T | CA392483062 | GNB5 | c.323T>A (p.Val108Asp) c.197T>A (p.Val66Asp) n.354T>A c.41T>A (p.Val14Asp) n.275T>A | |
15 | g.52153993C>A | CA392483075 | GNB5 | c.322G>T (p.Val108Phe) c.196G>T (p.Val66Phe) n.353G>T c.40G>T (p.Val14Phe) n.274G>T | |
15 | g.52153993C>G | CA392483077 | GNB5 | c.322G>C (p.Val108Leu) c.196G>C (p.Val66Leu) n.353G>C c.40G>C (p.Val14Leu) n.274G>C | |
15 | g.52153993C>T | CA392483079 | GNB5 | c.322G>A (p.Val108Ile) c.196G>A (p.Val66Ile) n.353G>A c.40G>A (p.Val14Ile) n.274G>A | |
15 | g.52153994T>A | CA392483094 | GNB5 | c.321A>T (p.Lys107Asn) c.195A>T (p.Lys65Asn) n.352A>T c.39A>T (p.Lys13Asn) n.273A>T | |
15 | g.52153994T>C | CA490403692 | GNB5 | c.321A>G (p.Lys107=) c.195A>G (p.Lys65=) n.352A>G c.39A>G (p.Lys13=) n.273A>G | |
15 | g.52153994T>G | CA392483095 | GNB5 | c.321A>C (p.Lys107Asn) c.195A>C (p.Lys65Asn) n.352A>C c.39A>C (p.Lys13Asn) n.273A>C | |
15 | g.52153996del | CA2628513923 | GNB5 | c.321del (p.Val108SerfsTer14) c.195del (p.Val66SerfsTer14) n.352del c.39del (p.Val14SerfsTer14) n.273del | gnomAD v4 |
15 | g.52153995T>A | CA392483096 | GNB5 | c.320A>T (p.Lys107Ile) c.194A>T (p.Lys65Ile) n.351A>T c.38A>T (p.Lys13Ile) n.272A>T | |
15 | g.52153995T>C | CA392483111 | GNB5 | c.320A>G (p.Lys107Arg) c.194A>G (p.Lys65Arg) n.351A>G c.38A>G (p.Lys13Arg) n.272A>G | |
15 | g.52153995T>G | CA392483100 | GNB5 | c.320A>C (p.Lys107Thr) c.194A>C (p.Lys65Thr) n.351A>C c.38A>C (p.Lys13Thr) n.272A>C | |
15 | g.52153996T>A | CA392483117 | GNB5 | c.319A>T (p.Lys107Ter) c.193A>T (p.Lys65Ter) n.350A>T c.37A>T (p.Lys13Ter) n.271A>T | |
15 | g.52153996T>C | CA392483122 | GNB5 | c.319A>G (p.Lys107Glu) c.193A>G (p.Lys65Glu) n.350A>G c.37A>G (p.Lys13Glu) n.271A>G | |
15 | g.52153996T>G | CA392483125 | GNB5 | c.319A>C (p.Lys107Gln) c.193A>C (p.Lys65Gln) n.350A>C c.37A>C (p.Lys13Gln) n.271A>C | gnomAD v4 |
15 | g.52153997G>A | CA490403693 | GNB5 | c.318C>T (p.Asn106=) c.192C>T (p.Asn64=) n.349C>T c.36C>T (p.Asn12=) n.270C>T | dbSNP |
15 | g.52153997G>C | CA392483130 | GNB5 | c.318C>G (p.Asn106Lys) c.192C>G (p.Asn64Lys) n.349C>G c.36C>G (p.Asn12Lys) n.270C>G | |
15 | g.52153997G>T | CA392483136 | GNB5 | c.318C>A (p.Asn106Lys) c.192C>A (p.Asn64Lys) n.349C>A c.36C>A (p.Asn12Lys) n.270C>A | |
15 | g.52153998T>A | CA392483137 | GNB5 | c.317A>T (p.Asn106Ile) c.191A>T (p.Asn64Ile) n.348A>T c.35A>T (p.Asn12Ile) n.269A>T | |
15 | g.52153998T>C | CA392483142 | GNB5 | c.317A>G (p.Asn106Ser) c.191A>G (p.Asn64Ser) n.348A>G c.35A>G (p.Asn12Ser) n.269A>G | dbSNP gnomAD v3 gnomAD v4 |
15 | g.52153998T>G | CA392483147 | GNB5 | c.317A>C (p.Asn106Thr) c.191A>C (p.Asn64Thr) n.348A>C c.35A>C (p.Asn12Thr) n.269A>C | |
15 | g.52153998T= | CA2177211014 | GNB5 | c.317A= (p.Asn106=) c.191A= (p.Asn64=) n.348A= c.35A= (p.Asn12=) n.269A= | |
15 | g.52153999T>A | CA392483158 | GNB5 | c.316A>T (p.Asn106Tyr) c.190A>T (p.Asn64Tyr) n.347A>T c.34A>T (p.Asn12Tyr) n.268A>T | |
15 | g.52153999T>C | CA392483165 | GNB5 | c.316A>G (p.Asn106Asp) c.190A>G (p.Asn64Asp) n.347A>G c.34A>G (p.Asn12Asp) n.268A>G | |
15 | g.52153999T>G | CA392483184 | GNB5 | c.316A>C (p.Asn106His) c.190A>C (p.Asn64His) n.347A>C c.34A>C (p.Asn12His) n.268A>C | |
15 | g.52154000C>A | CA490403694 | GNB5 | c.315G>T (p.Gly105=) c.189G>T (p.Gly63=) n.346G>T c.33G>T (p.Gly11=) n.267G>T | dbSNP gnomAD v2 gnomAD v4 |
15 | g.52154000C= | CA2177211019 | GNB5 | c.315G= (p.Gly105=) c.189G= (p.Gly63=) n.346G= c.33G= (p.Gly11=) n.267G= | |
15 | g.52154000C>G | CA490403695 | GNB5 | c.315G>C (p.Gly105=) c.189G>C (p.Gly63=) n.346G>C c.33G>C (p.Gly11=) n.267G>C | dbSNP |
15 | g.52154000C>T | CA490403696 | GNB5 | c.315G>A (p.Gly105=) c.189G>A (p.Gly63=) n.346G>A c.33G>A (p.Gly11=) n.267G>A | |
15 | g.52154001C>A | CA392483189 | GNB5 | c.314G>T (p.Gly105Val) c.188G>T (p.Gly63Val) n.345G>T c.32G>T (p.Gly11Val) n.266G>T | |
15 | g.52154001C>G | CA392483193 | GNB5 | c.314G>C (p.Gly105Ala) c.188G>C (p.Gly63Ala) n.345G>C c.32G>C (p.Gly11Ala) n.266G>C | |
15 | g.52154001C>T | CA392483191 | GNB5 | c.314G>A (p.Gly105Glu) c.188G>A (p.Gly63Glu) n.345G>A c.32G>A (p.Gly11Glu) n.266G>A | |
15 | g.52154002C>A | CA392483195 | GNB5 | c.313G>T (p.Gly105Trp) c.187G>T (p.Gly63Trp) n.344G>T c.31G>T (p.Gly11Trp) n.265G>T | dbSNP |
15 | g.52154002C= | CA2177211021 | GNB5 | c.313G= (p.Gly105=) c.187G= (p.Gly63=) n.344G= c.31G= (p.Gly11=) n.265G= | |
15 | g.52154002C>G | CA392483199 | GNB5 | c.313G>C (p.Gly105Arg) c.187G>C (p.Gly63Arg) n.344G>C c.31G>C (p.Gly11Arg) n.265G>C | |
15 | g.52154002C>T | CA392483197 | GNB5 | c.313G>A (p.Gly105Arg) c.187G>A (p.Gly63Arg) n.344G>A c.31G>A (p.Gly11Arg) n.265G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.52154003G>A | CA7565882 | GNB5 | c.312C>T (p.His104=) c.186C>T (p.His62=) n.343C>T c.30C>T (p.His10=) n.264C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.52154003G>C | CA392483209 | GNB5 | c.312C>G (p.His104Gln) c.186C>G (p.His62Gln) n.343C>G c.30C>G (p.His10Gln) n.264C>G | dbSNP |
15 | g.52154003G= | CA2177211024 | GNB5 | c.312C= (p.His104=) c.186C= (p.His62=) n.343C= c.30C= (p.His10=) n.264C= | |
15 | g.52154003G>T | CA392483205 | GNB5 | c.312C>A (p.His104Gln) c.186C>A (p.His62Gln) n.343C>A c.30C>A (p.His10Gln) n.264C>A | |
15 | g.52154004T>A | CA392483221 | GNB5 | c.311A>T (p.His104Leu) c.185A>T (p.His62Leu) n.342A>T c.29A>T (p.His10Leu) n.263A>T | |
15 | g.52154004T>C | CA392483227 | GNB5 | c.311A>G (p.His104Arg) c.185A>G (p.His62Arg) n.342A>G c.29A>G (p.His10Arg) n.263A>G | gnomAD v4 |
15 | g.52154004T>G | CA392483223 | GNB5 | c.311A>C (p.His104Pro) c.185A>C (p.His62Pro) n.342A>C c.29A>C (p.His10Pro) n.263A>C | |
15 | g.52154005G>A | CA392483233 | GNB5 | c.310C>T (p.His104Tyr) c.184C>T (p.His62Tyr) n.341C>T c.28C>T (p.His10Tyr) n.262C>T | |
15 | g.52154005G>C | CA392483242 | GNB5 | c.310C>G (p.His104Asp) c.184C>G (p.His62Asp) n.341C>G c.28C>G (p.His10Asp) n.262C>G | |
15 | g.52154005G>T | CA392483236 | GNB5 | c.310C>A (p.His104Asn) c.184C>A (p.His62Asn) n.341C>A c.28C>A (p.His10Asn) n.262C>A | |
15 | g.52154006G>A | CA490403697 | GNB5 | c.309C>T (p.Gly103=) c.183C>T (p.Gly61=) n.340C>T c.27C>T (p.Gly9=) n.261C>T | |
15 | g.52154006G>C | CA490403698 | GNB5 | c.309C>G (p.Gly103=) c.183C>G (p.Gly61=) n.340C>G c.27C>G (p.Gly9=) n.261C>G | |
15 | g.52154006G>T | CA490403699 | GNB5 | c.309C>A (p.Gly103=) c.183C>A (p.Gly61=) n.340C>A c.27C>A (p.Gly9=) n.261C>A | |
15 | g.52154007C>A | CA392483249 | GNB5 | c.308G>T (p.Gly103Val) c.182G>T (p.Gly61Val) n.339G>T c.26G>T (p.Gly9Val) n.260G>T | |
15 | g.52154007C>G | CA392483254 | GNB5 | c.308G>C (p.Gly103Ala) c.182G>C (p.Gly61Ala) n.339G>C c.26G>C (p.Gly9Ala) n.260G>C | |
15 | g.52154007C>T | CA392483251 | GNB5 | c.308G>A (p.Gly103Asp) c.182G>A (p.Gly61Asp) n.339G>A c.26G>A (p.Gly9Asp) n.260G>A | |
15 | g.52154008C>A | CA392483257 | GNB5 | c.307G>T (p.Gly103Cys) c.181G>T (p.Gly61Cys) n.338G>T c.25G>T (p.Gly9Cys) n.259G>T | |
15 | g.52154008C>G | CA392483258 | GNB5 | c.307G>C (p.Gly103Arg) c.181G>C (p.Gly61Arg) n.338G>C c.25G>C (p.Gly9Arg) n.259G>C | |
15 | g.52154008C>T | CA392483259 | GNB5 | c.307G>A (p.Gly103Ser) c.181G>A (p.Gly61Ser) n.338G>A c.25G>A (p.Gly9Ser) n.259G>A | |
15 | g.52154009T>A | CA392483262 | GNB5 | c.306A>T (p.Lys102Asn) c.180A>T (p.Lys60Asn) n.337A>T c.24A>T (p.Lys8Asn) n.258A>T | |
15 | g.52154009T>C | CA490403700 | GNB5 | c.306A>G (p.Lys102=) c.180A>G (p.Lys60=) n.337A>G c.24A>G (p.Lys8=) n.258A>G | |
15 | g.52154009T>G | CA392483264 | GNB5 | c.306A>C (p.Lys102Asn) c.180A>C (p.Lys60Asn) n.337A>C c.24A>C (p.Lys8Asn) n.258A>C | |
15 | g.52154011del | CA2628513926 | GNB5 | c.306del (p.Gly103AlafsTer19) c.180del (p.Gly61AlafsTer19) n.337del c.24del (p.Gly9AlafsTer19) n.258del | gnomAD v4 |
15 | g.52154010T>A | CA392483273 | GNB5 | c.305A>T (p.Lys102Ile) c.179A>T (p.Lys60Ile) n.336A>T c.23A>T (p.Lys8Ile) n.257A>T | |
15 | g.52154010T>C | CA392483278 | GNB5 | c.305A>G (p.Lys102Arg) c.179A>G (p.Lys60Arg) n.336A>G c.23A>G (p.Lys8Arg) n.257A>G | gnomAD v4 |
15 | g.52154010T>G | CA392483282 | GNB5 | c.305A>C (p.Lys102Thr) c.179A>C (p.Lys60Thr) n.336A>C c.23A>C (p.Lys8Thr) n.257A>C | |
15 | g.52154011T>A | CA392483285 | GNB5 | c.304A>T (p.Lys102Ter) c.178A>T (p.Lys60Ter) n.335A>T c.22A>T (p.Lys8Ter) n.256A>T | |
15 | g.52154011T>C | CA392483291 | GNB5 | c.304A>G (p.Lys102Glu) c.178A>G (p.Lys60Glu) n.335A>G c.22A>G (p.Lys8Glu) n.256A>G | |
15 | g.52154011T>G | CA270649687 | GNB5 | c.304A>C (p.Lys102Gln) c.178A>C (p.Lys60Gln) n.335A>C c.22A>C (p.Lys8Gln) n.256A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.52154011T= | CA2177211029 | GNB5 | c.304A= (p.Lys102=) c.178A= (p.Lys60=) n.335A= c.22A= (p.Lys8=) n.256A= | |
15 | g.52154012G>A | CA490403701 | GNB5 | c.303C>T (p.Leu101=) c.177C>T (p.Leu59=) n.334C>T c.21C>T (p.Leu7=) n.255C>T | |
15 | g.52154012G>C | CA490403702 | GNB5 | c.303C>G (p.Leu101=) c.177C>G (p.Leu59=) n.334C>G c.21C>G (p.Leu7=) n.255C>G | gnomAD v4 |
15 | g.52154012G>T | CA490403703 | GNB5 | c.303C>A (p.Leu101=) c.177C>A (p.Leu59=) n.334C>A c.21C>A (p.Leu7=) n.255C>A | |
15 | g.52154013A>C | CA392483320 | GNB5 | c.302T>G (p.Leu101Arg) c.176T>G (p.Leu59Arg) n.333T>G c.20T>G (p.Leu7Arg) n.254T>G | |
15 | g.52154013A>G | CA392483309 | GNB5 | c.302T>C (p.Leu101Pro) c.176T>C (p.Leu59Pro) n.333T>C c.20T>C (p.Leu7Pro) n.254T>C | |
15 | g.52154013A>T | CA392483316 | GNB5 | c.302T>A (p.Leu101His) c.176T>A (p.Leu59His) n.333T>A c.20T>A (p.Leu7His) n.254T>A | |
15 | g.52154014G>A | CA392483327 | GNB5 | c.301C>T (p.Leu101Phe) c.175C>T (p.Leu59Phe) n.332C>T c.19C>T (p.Leu7Phe) n.253C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.52154014G>C | CA392483330 | GNB5 | c.301C>G (p.Leu101Val) c.175C>G (p.Leu59Val) n.332C>G c.19C>G (p.Leu7Val) n.253C>G | gnomAD v4 |
15 | g.52154014G= | CA2177211032 | GNB5 | c.301C= (p.Leu101=) c.175C= (p.Leu59=) n.332C= c.19C= (p.Leu7=) n.253C= | |
15 | g.52154014G>T | CA392483331 | GNB5 | c.301C>A (p.Leu101Ile) c.175C>A (p.Leu59Ile) n.332C>A c.19C>A (p.Leu7Ile) n.253C>A | |
15 | g.52154015G>A | CA490403704 | GNB5 | c.300C>T (p.Thr100=) c.174C>T (p.Thr58=) n.331C>T c.18C>T (p.Thr6=) n.252C>T | gnomAD v4 |
15 | g.52154015G>C | CA490403705 | GNB5 | c.300C>G (p.Thr100=) c.174C>G (p.Thr58=) n.331C>G c.18C>G (p.Thr6=) n.252C>G | |
15 | g.52154015G= | CA2177211036 | GNB5 | c.300C= (p.Thr100=) c.174C= (p.Thr58=) n.331C= c.18C= (p.Thr6=) n.252C= | |
15 | g.52154015G>T | CA7565883 | GNB5 | c.300C>A (p.Thr100=) c.174C>A (p.Thr58=) n.331C>A c.18C>A (p.Thr6=) n.252C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.52154016G>A | CA392483333 | GNB5 | c.299C>T (p.Thr100Ile) c.173C>T (p.Thr58Ile) n.330C>T c.17C>T (p.Thr6Ile) n.251C>T | gnomAD v4 |
15 | g.52154016G>C | CA392483341 | GNB5 | c.299C>G (p.Thr100Ser) c.173C>G (p.Thr58Ser) n.330C>G c.17C>G (p.Thr6Ser) n.251C>G | |
15 | g.52154016G= | CA2177211043 | GNB5 | c.299C= (p.Thr100=) c.173C= (p.Thr58=) n.330C= c.17C= (p.Thr6=) n.251C= | |
15 | g.52154016G>T | CA392483345 | GNB5 | c.299C>A (p.Thr100Asn) c.173C>A (p.Thr58Asn) n.330C>A c.17C>A (p.Thr6Asn) n.251C>A | dbSNP gnomAD v2 gnomAD v4 |
15 | g.52154017T>A | CA392483351 | GNB5 | c.298A>T (p.Thr100Ser) c.172A>T (p.Thr58Ser) n.329A>T c.16A>T (p.Thr6Ser) n.250A>T | |
15 | g.52154017T>C | CA392483353 | GNB5 | c.298A>G (p.Thr100Ala) c.172A>G (p.Thr58Ala) n.329A>G c.16A>G (p.Thr6Ala) n.250A>G | |
15 | g.52154017T>G | CA392483356 | GNB5 | c.298A>C (p.Thr100Pro) c.172A>C (p.Thr58Pro) n.329A>C c.16A>C (p.Thr6Pro) n.250A>C | |
15 | g.52154018C>A | CA392483362 | GNB5 | c.297G>T (p.Arg99Ser) c.171G>T (p.Arg57Ser) n.328G>T c.15G>T (p.Arg5Ser) n.249G>T | |
15 | g.52154018C>G | CA392483360 | GNB5 | c.297G>C (p.Arg99Ser) c.171G>C (p.Arg57Ser) n.328G>C c.15G>C (p.Arg5Ser) n.249G>C | |
15 | g.52154018C>T | CA490403706 | GNB5 | c.297G>A (p.Arg99=) c.171G>A (p.Arg57=) n.328G>A c.15G>A (p.Arg5=) n.249G>A | |
15 | g.52154019C>A | CA392483364 | GNB5 | c.296G>T (p.Arg99Met) c.170G>T (p.Arg57Met) n.327G>T c.14G>T (p.Arg5Met) n.248G>T | |
15 | g.52154019C>G | CA392483365 | GNB5 | c.296G>C (p.Arg99Thr) c.170G>C (p.Arg57Thr) n.327G>C c.14G>C (p.Arg5Thr) n.248G>C | |
15 | g.52154019C>T | CA392483370 | GNB5 | c.296G>A (p.Arg99Lys) c.170G>A (p.Arg57Lys) n.327G>A c.14G>A (p.Arg5Lys) n.248G>A | gnomAD v4 |
15 | g.52154020T>A | CA392483379 | GNB5 | c.295A>T (p.Arg99Trp) c.169A>T (p.Arg57Trp) n.326A>T c.13A>T (p.Arg5Trp) n.247A>T | |
15 | g.52154020T>C | CA392483385 | GNB5 | c.295A>G (p.Arg99Gly) c.169A>G (p.Arg57Gly) n.326A>G c.13A>G (p.Arg5Gly) n.247A>G | |
15 | g.52154020T>G | CA490403707 | GNB5 | c.295A>C (p.Arg99=) c.169A>C (p.Arg57=) n.326A>C c.13A>C (p.Arg5=) n.247A>C | |
15 | g.52154021T>A | CA392483390 | GNB5 | c.294A>T (p.Arg98Ser) c.168A>T (p.Arg56Ser) n.325A>T c.12A>T (p.Arg4Ser) n.246A>T | dbSNP gnomAD v2 |
15 | g.52154021T>C | CA490403708 | GNB5 | c.294A>G (p.Arg98=) c.168A>G (p.Arg56=) n.325A>G c.12A>G (p.Arg4=) n.246A>G | |
15 | g.52154021T>G | CA392483392 | GNB5 | c.294A>C (p.Arg98Ser) c.168A>C (p.Arg56Ser) n.325A>C c.12A>C (p.Arg4Ser) n.246A>C | |
15 | g.52154021T= | CA2177211045 | GNB5 | c.294A= (p.Arg98=) c.168A= (p.Arg56=) n.325A= c.12A= (p.Arg4=) n.246A= | |
15 | g.52154022C>A | CA392483400 | GNB5 | c.293G>T (p.Arg98Ile) c.167G>T (p.Arg56Ile) n.324G>T c.11G>T (p.Arg4Ile) n.245G>T | |
15 | g.52154022C>G | CA392483404 | GNB5 | c.293G>C (p.Arg98Thr) c.167G>C (p.Arg56Thr) n.324G>C c.11G>C (p.Arg4Thr) n.245G>C | |
15 | g.52154022C>T | CA392483412 | GNB5 | c.293G>A (p.Arg98Lys) c.167G>A (p.Arg56Lys) n.324G>A c.11G>A (p.Arg4Lys) n.245G>A | |
15 | g.52154023T>A | CA392483415 | GNB5 | c.292A>T (p.Arg98Ter) c.166A>T (p.Arg56Ter) n.323A>T c.10A>T (p.Arg4Ter) n.244A>T | |
15 | g.52154023T>C | CA392483416 | GNB5 | c.292A>G (p.Arg98Gly) c.166A>G (p.Arg56Gly) n.323A>G c.10A>G (p.Arg4Gly) n.244A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.52154023T>G | CA490403709 | GNB5 | c.292A>C (p.Arg98=) c.166A>C (p.Arg56=) n.323A>C c.10A>C (p.Arg4=) n.244A>C | |
15 | g.52154023T= | CA2177211048 | GNB5 | c.292A= (p.Arg98=) c.166A= (p.Arg56=) n.323A= c.10A= (p.Arg4=) n.244A= | |
15 | g.52154024G>A | CA490403712 | GNB5 | c.291C>T (p.Thr97=) c.165C>T (p.Thr55=) n.322C>T c.9C>T (p.Thr3=) n.243C>T | |
15 | g.52154024G>C | CA490403711 | GNB5 | c.291C>G (p.Thr97=) c.165C>G (p.Thr55=) n.322C>G c.9C>G (p.Thr3=) n.243C>G | |
15 | g.52154024G>T | CA490403710 | GNB5 | c.291C>A (p.Thr97=) c.165C>A (p.Thr55=) n.322C>A c.9C>A (p.Thr3=) n.243C>A | |
15 | g.52154025G>A | CA392483426 | GNB5 | c.290C>T (p.Thr97Ile) c.164C>T (p.Thr55Ile) n.321C>T c.8C>T (p.Thr3Ile) n.242C>T | |
15 | g.52154025G>C | CA392483418 | GNB5 | c.290C>G (p.Thr97Ser) c.164C>G (p.Thr55Ser) n.321C>G c.8C>G (p.Thr3Ser) n.242C>G | |
15 | g.52154025G>T | CA392483422 | GNB5 | c.290C>A (p.Thr97Asn) c.164C>A (p.Thr55Asn) n.321C>A c.8C>A (p.Thr3Asn) n.242C>A | |
15 | g.52154026T>A | CA392483431 | GNB5 | c.289A>T (p.Thr97Ser) c.163A>T (p.Thr55Ser) n.320A>T c.7A>T (p.Thr3Ser) n.241A>T | |
15 | g.52154026T>C | CA392483436 | GNB5 | c.289A>G (p.Thr97Ala) c.163A>G (p.Thr55Ala) n.320A>G c.7A>G (p.Thr3Ala) n.241A>G | |
15 | g.52154026T>G | CA392483439 | GNB5 | c.289A>C (p.Thr97Pro) c.163A>C (p.Thr55Pro) n.320A>C c.7A>C (p.Thr3Pro) n.241A>C | |
15 | g.52154027C>A | CA392483442 | GNB5 | c.288G>T (p.Lys96Asn) c.162G>T (p.Lys54Asn) n.319G>T c.6G>T (p.Lys2Asn) n.240G>T | |
15 | g.52154027C>G | CA392483443 | GNB5 | c.288G>C (p.Lys96Asn) c.162G>C (p.Lys54Asn) n.319G>C c.6G>C (p.Lys2Asn) n.240G>C | gnomAD v4 |
15 | g.52154027C>T | CA490403713 | GNB5 | c.288G>A (p.Lys96=) c.162G>A (p.Lys54=) n.319G>A c.6G>A (p.Lys2=) n.240G>A | gnomAD v4 |
15 | g.52154028T>A | CA392483444 | GNB5 | c.287A>T (p.Lys96Met) c.161A>T (p.Lys54Met) n.318A>T c.5A>T (p.Lys2Met) n.239A>T | |
15 | g.52154028T>C | CA392483448 | GNB5 | c.287A>G (p.Lys96Arg) c.161A>G (p.Lys54Arg) n.318A>G c.5A>G (p.Lys2Arg) n.239A>G | dbSNP gnomAD v4 |
15 | g.52154028T>G | CA392483451 | GNB5 | c.287A>C (p.Lys96Thr) c.161A>C (p.Lys54Thr) n.318A>C c.5A>C (p.Lys2Thr) n.239A>C | |
15 | g.52154028T= | CA2177211050 | GNB5 | c.287A= (p.Lys96=) c.161A= (p.Lys54=) n.318A= c.5A= (p.Lys2=) n.239A= | |
15 | g.52154029T>A | CA392483456 | GNB5 | c.286A>T (p.Lys96Ter) c.160A>T (p.Lys54Ter) n.317A>T c.4A>T (p.Lys2Ter) n.238A>T | |
15 | g.52154029T>C | CA392483458 | GNB5 | c.286A>G (p.Lys96Glu) c.160A>G (p.Lys54Glu) n.317A>G c.4A>G (p.Lys2Glu) n.238A>G | |
15 | g.52154029T>G | CA392483461 | GNB5 | c.286A>C (p.Lys96Gln) c.160A>C (p.Lys54Gln) n.317A>C c.4A>C (p.Lys2Gln) n.238A>C | |
15 | g.52154030C>A | CA392483469 | GNB5 | c.285G>T (p.Met95Ile) c.159G>T (p.Met53Ile) n.316G>T c.3G>T (p.Met1Ile) n.237G>T | |
15 | g.52154030C= | CA2177211057 | GNB5 | c.285G= (p.Met95=) c.159G= (p.Met53=) n.316G= c.3G= (p.Met1=) n.237G= | |
15 | g.52154030C>G | CA392483468 | GNB5 | c.285G>C (p.Met95Ile) c.159G>C (p.Met53Ile) n.316G>C c.3G>C (p.Met1Ile) n.237G>C | |
15 | g.52154030C>T | CA270649691 | GNB5 | c.285G>A (p.Met95Ile) c.159G>A (p.Met53Ile) n.316G>A c.3G>A (p.Met1Ile) n.237G>A | dbSNP gnomAD v3 gnomAD v4 |
15 | g.52154031A= | CA2177211059 | GNB5 | c.284T= (p.Met95=) c.158T= (p.Met53=) n.315T= c.2T= (p.Met1=) n.236T= | |
15 | g.52154031A>C | CA392483470 | GNB5 | c.284T>G (p.Met95Arg) c.158T>G (p.Met53Arg) n.315T>G c.2T>G (p.Met1Arg) n.236T>G | |
15 | g.52154031A>G | CA392483489 | GNB5 | c.284T>C (p.Met95Thr) c.158T>C (p.Met53Thr) n.315T>C c.2T>C (p.Met1Thr) n.236T>C | dbSNP |
15 | g.52154031A>T | CA392483473 | GNB5 | c.284T>A (p.Met95Lys) c.158T>A (p.Met53Lys) n.315T>A c.2T>A (p.Met1Lys) n.236T>A | |
15 | g.52154032T>A | CA392483490 | GNB5 | c.283A>T (p.Met95Leu) c.157A>T (p.Met53Leu) n.314A>T c.1A>T (p.Met1Leu) n.235A>T | |
15 | g.52154032T>C | CA270649693 | GNB5 | c.283A>G (p.Met95Val) c.157A>G (p.Met53Val) n.314A>G c.1A>G (p.Met1Val) n.235A>G | dbSNP gnomAD v4 |
15 | g.52154032T>G | CA392483493 | GNB5 | c.283A>C (p.Met95Leu) c.157A>C (p.Met53Leu) n.314A>C c.1A>C (p.Met1Leu) n.235A>C | dbSNP gnomAD v3 gnomAD v4 |
15 | g.52154032T= | CA2177211062 | GNB5 | c.283A= (p.Met95=) c.157A= (p.Met53=) n.314A= c.1A= (p.Met1=) n.235A= | |
15 | g.52154033G>A | CA490403714 | GNB5 | c.282C>T (p.Val94=) c.156C>T (p.Val52=) n.313C>T c.-1C>T (n.-1C>T) n.234C>T | gnomAD v4 |
15 | g.52154033G>C | CA490403715 | GNB5 | c.282C>G (p.Val94=) c.156C>G (p.Val52=) n.313C>G c.-1C>G (n.-1C>G) n.234C>G | gnomAD v4 |
15 | g.52154033G>T | CA490403716 | GNB5 | c.282C>A (p.Val94=) c.156C>A (p.Val52=) n.313C>A c.-1C>A (n.-1C>A) n.234C>A | gnomAD v4 |
15 | g.52154034A>C | CA392483498 | GNB5 | c.281T>G (p.Val94Gly) c.155T>G (p.Val52Gly) n.312T>G c.-2T>G (n.-2T>G) n.233T>G | |
15 | g.52154034A>G | CA392483501 | GNB5 | c.281T>C (p.Val94Ala) c.155T>C (p.Val52Ala) n.312T>C c.-2T>C (n.-2T>C) n.233T>C | |
15 | g.52154034A>T | CA392483508 | GNB5 | c.281T>A (p.Val94Asp) c.155T>A (p.Val52Asp) n.312T>A c.-2T>A (n.-2T>A) n.233T>A | |
15 | g.52154035C>A | CA392483512 | GNB5 | c.280G>T (p.Val94Phe) c.154G>T (p.Val52Phe) n.311G>T c.-3G>T (n.-3G>T) n.232G>T | |
15 | g.52154035C>G | CA392483517 | GNB5 | c.280G>C (p.Val94Leu) c.154G>C (p.Val52Leu) n.311G>C c.-3G>C (n.-3G>C) n.232G>C | |
15 | g.52154035C>T | CA392483520 | GNB5 | c.280G>A (p.Val94Ile) c.154G>A (p.Val52Ile) n.311G>A c.-3G>A (n.-3G>A) n.232G>A | |
15 | g.52154036A>C | CA392483527 | GNB5 | c.279T>G (p.Phe93Leu) c.153T>G (p.Phe51Leu) n.310T>G c.-4T>G (n.-4T>G) n.231T>G | |
15 | g.52154036A>G | CA490403717 | GNB5 | c.279T>C (p.Phe93=) c.153T>C (p.Phe51=) n.310T>C c.-4T>C (n.-4T>C) n.231T>C | |
15 | g.52154036A>T | CA392483531 | GNB5 | c.279T>A (p.Phe93Leu) c.153T>A (p.Phe51Leu) n.310T>A c.-4T>A (n.-4T>A) n.231T>A | |
15 | g.52154037A>C | CA392483537 | GNB5 | c.278T>G (p.Phe93Cys) c.152T>G (p.Phe51Cys) n.309T>G c.-5T>G (n.-5T>G) n.230T>G | |
15 | g.52154037A>G | CA392483533 | GNB5 | c.278T>C (p.Phe93Ser) c.152T>C (p.Phe51Ser) n.309T>C c.-5T>C (n.-5T>C) n.230T>C | |
15 | g.52154037A>T | CA392483532 | GNB5 | c.278T>A (p.Phe93Tyr) c.152T>A (p.Phe51Tyr) n.309T>A c.-5T>A (n.-5T>A) n.230T>A | |
15 | g.52154038A>C | CA392483551 | GNB5 | c.277T>G (p.Phe93Val) c.151T>G (p.Phe51Val) n.308T>G c.-6T>G (n.-6T>G) n.229T>G | |
15 | g.52154038A>G | CA392483566 | GNB5 | c.277T>C (p.Phe93Leu) c.151T>C (p.Phe51Leu) n.308T>C c.-6T>C (n.-6T>C) n.229T>C | |
15 | g.52154038A>T | CA392483573 | GNB5 | c.277T>A (p.Phe93Ile) c.151T>A (p.Phe51Ile) n.308T>A c.-6T>A (n.-6T>A) n.229T>A | |
15 | g.52154039C>A | CA392483578 | GNB5 | c.276G>T (p.Gln92His) c.150G>T (p.Gln50His) n.307G>T c.-7G>T (n.-7G>T) n.228G>T | |
15 | g.52154039C>G | CA392483582 | GNB5 | c.276G>C (p.Gln92His) c.150G>C (p.Gln50His) n.307G>C c.-7G>C (n.-7G>C) n.228G>C | |
15 | g.52154039C>T | CA490403718 | GNB5 | c.276G>A (p.Gln92=) c.150G>A (p.Gln50=) n.307G>A c.-7G>A (n.-7G>A) n.228G>A | |
15 | g.52154040T>A | CA392483588 | GNB5 | c.275A>T (p.Gln92Leu) c.149A>T (p.Gln50Leu) n.306A>T c.-8A>T (n.-8A>T) n.227A>T | gnomAD v4 |
15 | g.52154040T>C | CA392483596 | GNB5 | c.275A>G (p.Gln92Arg) c.149A>G (p.Gln50Arg) n.306A>G c.-8A>G (n.-8A>G) n.227A>G | gnomAD v4 |
15 | g.52154040T>G | CA392483600 | GNB5 | c.275A>C (p.Gln92Pro) c.149A>C (p.Gln50Pro) n.306A>C c.-8A>C (n.-8A>C) n.227A>C | |
15 | g.52154041G>A | CA392483603 | GNB5 | c.274C>T (p.Gln92Ter) c.148C>T (p.Gln50Ter) n.305C>T c.-9C>T (n.-9C>T) n.226C>T | |
15 | g.52154041G>C | CA392483605 | GNB5 | c.274C>G (p.Gln92Glu) c.148C>G (p.Gln50Glu) n.305C>G c.-9C>G (n.-9C>G) n.226C>G | |
15 | g.52154041G>T | CA392483609 | GNB5 | c.274C>A (p.Gln92Lys) c.148C>A (p.Gln50Lys) n.305C>A c.-9C>A (n.-9C>A) n.226C>A | |
15 | g.52154042C>A | CA490403719 | GNB5 | c.273G>T (p.Gly91=) c.147G>T (p.Gly49=) n.304G>T c.-10G>T (n.-10G>T) n.225G>T | |
15 | g.52154042C>G | CA490403720 | GNB5 | c.273G>C (p.Gly91=) c.147G>C (p.Gly49=) n.304G>C c.-10G>C (n.-10G>C) n.225G>C | |
15 | g.52154042C>T | CA490403721 | GNB5 | c.273G>A (p.Gly91=) c.147G>A (p.Gly49=) n.304G>A c.-10G>A (n.-10G>A) n.225G>A | COSMIC |
15 | g.52154043C>A | CA392483616 | GNB5 | c.272G>T (p.Gly91Val) c.146G>T (p.Gly49Val) n.303G>T c.-11G>T (n.-11G>T) n.224G>T | |
15 | g.52154043C>G | CA392483612 | GNB5 | c.272G>C (p.Gly91Ala) c.146G>C (p.Gly49Ala) n.303G>C c.-11G>C (n.-11G>C) n.224G>C | |
15 | g.52154043C>T | CA392483610 | GNB5 | c.272G>A (p.Gly91Glu) c.146G>A (p.Gly49Glu) n.303G>A c.-11G>A (n.-11G>A) n.224G>A | |
15 | g.52154044C>A | CA392483622 | GNB5 | c.271G>T (p.Gly91Trp) c.145G>T (p.Gly49Trp) n.302G>T c.-12G>T (n.-12G>T) n.223G>T | |
15 | g.52154044C= | CA2177211066 | GNB5 | c.271G= (p.Gly91=) c.145G= (p.Gly49=) n.302G= c.-12G= (n.-12G=) n.223G= | |
15 | g.52154044C>G | CA392483623 | GNB5 | c.271G>C (p.Gly91Arg) c.145G>C (p.Gly49Arg) n.302G>C c.-12G>C (n.-12G>C) n.223G>C | |
15 | g.52154044C>T | CA270649695 | GNB5 | c.271G>A (p.Gly91Arg) c.145G>A (p.Gly49Arg) n.302G>A c.-12G>A (n.-12G>A) n.223G>A | dbSNP |
15 | g.52154045C>A | CA490403722 | GNB5 | c.270G>T (p.Leu90=) c.144G>T (p.Leu48=) n.301G>T c.-13G>T (n.-13G>T) n.222G>T | |
15 | g.52154045C>G | CA490403724 | GNB5 | c.270G>C (p.Leu90=) c.144G>C (p.Leu48=) n.301G>C c.-13G>C (n.-13G>C) n.222G>C | |
15 | g.52154045C>T | CA490403723 | GNB5 | c.270G>A (p.Leu90=) c.144G>A (p.Leu48=) n.301G>A c.-13G>A (n.-13G>A) n.222G>A | |
15 | g.52154046A>C | CA392483626 | GNB5 | c.269T>G (p.Leu90Arg) c.143T>G (p.Leu48Arg) n.300T>G c.-14T>G (n.-14T>G) n.221T>G | |
15 | g.52154046A>G | CA392483629 | GNB5 | c.269T>C (p.Leu90Pro) c.143T>C (p.Leu48Pro) n.300T>C c.-14T>C (n.-14T>C) n.221T>C | |
15 | g.52154046A>T | CA392483633 | GNB5 | c.269T>A (p.Leu90Gln) c.143T>A (p.Leu48Gln) n.300T>A c.-14T>A (n.-14T>A) n.221T>A | |
15 | g.52154047G>A | CA490403725 | GNB5 | c.268C>T (p.Leu90=) c.142C>T (p.Leu48=) n.299C>T c.-15C>T (n.-15C>T) n.220C>T | gnomAD v4 |
15 | g.52154047G>C | CA392483651 | GNB5 | c.268C>G (p.Leu90Val) c.142C>G (p.Leu48Val) n.299C>G c.-15C>G (n.-15C>G) n.220C>G | gnomAD v4 |
15 | g.52154047G>T | CA392483654 | GNB5 | c.268C>A (p.Leu90Met) c.142C>A (p.Leu48Met) n.299C>A c.-15C>A (n.-15C>A) n.220C>A | |
15 | g.52154048G>A | CA490403726 | GNB5 | c.267C>T (p.Ala89=) c.141C>T (p.Ala47=) n.298C>T c.-16C>T (n.-16C>T) n.219C>T | dbSNP COSMIC |
15 | g.52154048G>C | CA490403727 | GNB5 | c.267C>G (p.Ala89=) c.141C>G (p.Ala47=) n.298C>G c.-16C>G (n.-16C>G) n.219C>G | |
15 | g.52154048G= | CA2177211069 | GNB5 | c.267C= (p.Ala89=) c.141C= (p.Ala47=) n.298C= c.-16C= (n.-16C=) n.219C= | |
15 | g.52154048G>T | CA490403728 | GNB5 | c.267C>A (p.Ala89=) c.141C>A (p.Ala47=) n.298C>A c.-16C>A (n.-16C>A) n.219C>A | |
15 | g.52154049G>A | CA7565884 | GNB5 | c.266C>T (p.Ala89Val) c.140C>T (p.Ala47Val) n.297C>T c.-17C>T (n.-17C>T) n.218C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.52154049G>C | CA392483668 | GNB5 | c.266C>G (p.Ala89Gly) c.140C>G (p.Ala47Gly) n.297C>G c.-17C>G (n.-17C>G) n.218C>G | |
15 | g.52154049G= | CA2177211073 | GNB5 | c.266C= (p.Ala89=) c.140C= (p.Ala47=) n.297C= c.-17C= (n.-17C=) n.218C= | |
15 | g.52154049G>T | CA392483671 | GNB5 | c.266C>A (p.Ala89Asp) c.140C>A (p.Ala47Asp) n.297C>A c.-17C>A (n.-17C>A) n.218C>A | gnomAD v4 |
15 | g.52154050C>A | CA7565885 | GNB5 | c.265G>T (p.Ala89Ser) c.139G>T (p.Ala47Ser) n.296G>T c.-18G>T (n.-18G>T) n.217G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.52154050C= | CA2177211076 | GNB5 | c.265G= (p.Ala89=) c.139G= (p.Ala47=) n.296G= c.-18G= (n.-18G=) n.217G= | |
15 | g.52154050C>G | CA392483680 | GNB5 | c.265G>C (p.Ala89Pro) c.139G>C (p.Ala47Pro) n.296G>C c.-18G>C (n.-18G>C) n.217G>C | |
15 | g.52154050C>T | CA270649702 | GNB5 | c.265G>A (p.Ala89Thr) c.139G>A (p.Ala47Thr) n.296G>A c.-18G>A (n.-18G>A) n.217G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.52154051C>A | CA392483689 | GNB5 | c.264G>T (p.Glu88Asp) c.138G>T (p.Glu46Asp) n.295G>T c.-19G>T (n.-19G>T) n.216G>T | |
15 | g.52154051C= | CA2177211082 | GNB5 | c.264G= (p.Glu88=) c.138G= (p.Glu46=) n.295G= c.-19G= (n.-19G=) n.216G= | |
15 | g.52154051C>G | CA392483695 | GNB5 | c.264G>C (p.Glu88Asp) c.138G>C (p.Glu46Asp) n.295G>C c.-19G>C (n.-19G>C) n.216G>C | |
15 | g.52154051C>T | CA7565886 | GNB5 | c.264G>A (p.Glu88=) c.138G>A (p.Glu46=) n.295G>A c.-19G>A (n.-19G>A) n.216G>A | dbSNP ExAC gnomAD v2 |
15 | g.52154052T>A | CA392483703 | GNB5 | c.263A>T (p.Glu88Val) c.137A>T (p.Glu46Val) n.294A>T c.-20A>T (n.-20A>T) n.215A>T | |
15 | g.52154052T>C | CA392483707 | GNB5 | c.263A>G (p.Glu88Gly) c.137A>G (p.Glu46Gly) n.294A>G c.-20A>G (n.-20A>G) n.215A>G | |
15 | g.52154052T>G | CA392483710 | GNB5 | c.263A>C (p.Glu88Ala) c.137A>C (p.Glu46Ala) n.294A>C c.-20A>C (n.-20A>C) n.215A>C | |
15 | g.52154052_52154053delinsTC | CA2177211084 | GNB5 | c.262_263delinsGA (p.Glu88=) c.136_137delinsGA (p.Glu46=) n.293_294delinsGA c.-21_-20delinsGA (n.-21_-20delinsGA) n.214_215delinsGA | |
15 | g.52154053C>A | CA392483711 | GNB5 | c.262G>T (p.Glu88Ter) c.136G>T (p.Glu46Ter) n.293G>T c.-21G>T (n.-21G>T) n.214G>T | |
15 | g.52154053C>G | CA392483712 | GNB5 | c.262G>C (p.Glu88Gln) c.136G>C (p.Glu46Gln) n.293G>C c.-21G>C (n.-21G>C) n.214G>C | COSMIC |
15 | g.52154053C>T | CA392483714 | GNB5 | c.262G>A (p.Glu88Lys) c.136G>A (p.Glu46Lys) n.293G>A c.-21G>A (n.-21G>A) n.214G>A | gnomAD v4 |
15 | g.52154054del | CA7565887 | GNB5 | c.262del (p.Glu88ArgfsTer8) c.136del (p.Glu46ArgfsTer8) n.293del c.-21del (n.-21del) n.214del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.52154054C>A | CA490403729 | GNB5 | c.261G>T (p.Val87=) c.135G>T (p.Val45=) n.292G>T c.-22G>T (n.-22G>T) n.213G>T | |
15 | g.52154054C>G | CA490403730 | GNB5 | c.261G>C (p.Val87=) c.135G>C (p.Val45=) n.292G>C c.-22G>C (n.-22G>C) n.213G>C | gnomAD v4 |
15 | g.52154054C>T | CA490403731 | GNB5 | c.261G>A (p.Val87=) c.135G>A (p.Val45=) n.292G>A c.-22G>A (n.-22G>A) n.213G>A | gnomAD v4 |
15 | g.52154055A>C | CA392483715 | GNB5 | c.260T>G (p.Val87Gly) c.134T>G (p.Val45Gly) n.291T>G c.-23T>G (n.-23T>G) n.212T>G | |
15 | g.52154055A>G | CA392483718 | GNB5 | c.260T>C (p.Val87Ala) c.134T>C (p.Val45Ala) n.291T>C c.-23T>C (n.-23T>C) n.212T>C | gnomAD v4 |
15 | g.52154055A>T | CA392483720 | GNB5 | c.260T>A (p.Val87Glu) c.134T>A (p.Val45Glu) n.291T>A c.-23T>A (n.-23T>A) n.212T>A | gnomAD v4 |
15 | g.52154056C>A | CA392483729 | GNB5 | c.259G>T (p.Val87Leu) c.133G>T (p.Val45Leu) n.290G>T c.-24G>T (n.-24G>T) n.211G>T | dbSNP gnomAD v2 gnomAD v4 |
15 | g.52154056C= | CA2177211088 | GNB5 | c.259G= (p.Val87=) c.133G= (p.Val45=) n.290G= c.-24G= (n.-24G=) n.211G= | |
15 | g.52154056C>G | CA392483753 | GNB5 | c.259G>C (p.Val87Leu) c.133G>C (p.Val45Leu) n.290G>C c.-24G>C (n.-24G>C) n.211G>C | |
15 | g.52154056C>T | CA392483723 | GNB5 | c.259G>A (p.Val87Met) c.133G>A (p.Val45Met) n.290G>A c.-24G>A (n.-24G>A) n.211G>A | gnomAD v4 |
15 | g.52154057C>A | CA490403732 | GNB5 | c.258G>T (p.Arg86=) c.132G>T (p.Arg44=) n.289G>T c.-25G>T (n.-25G>T) n.210G>T | gnomAD v4 |
15 | g.52154057C= | CA2177211091 | GNB5 | c.258G= (p.Arg86=) c.132G= (p.Arg44=) n.289G= c.-25G= (n.-25G=) n.210G= | |
15 | g.52154057C>G | CA490403733 | GNB5 | c.258G>C (p.Arg86=) c.132G>C (p.Arg44=) n.289G>C c.-25G>C (n.-25G>C) n.210G>C | dbSNP gnomAD v2 gnomAD v4 |
15 | g.52154057C>T | CA490403734 | GNB5 | c.258G>A (p.Arg86=) c.132G>A (p.Arg44=) n.289G>A c.-25G>A (n.-25G>A) n.210G>A | |
15 | g.52154058C>A | CA392483762 | GNB5 | c.257G>T (p.Arg86Leu) c.131G>T (p.Arg44Leu) n.288G>T c.-26G>T (n.-26G>T) n.209G>T | |
15 | g.52154058C= | CA2177211095 | GNB5 | c.257G= (p.Arg86=) c.131G= (p.Arg44=) n.288G= c.-26G= (n.-26G=) n.209G= | |
15 | g.52154058C>G | CA392483756 | GNB5 | c.257G>C (p.Arg86Pro) c.131G>C (p.Arg44Pro) n.288G>C c.-26G>C (n.-26G>C) n.209G>C | |
15 | g.52154058C>T | CA7565888 | GNB5 | c.257G>A (p.Arg86Gln) c.131G>A (p.Arg44Gln) n.288G>A c.-26G>A (n.-26G>A) n.209G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.52154059G>A | CA392483771 | GNB5 | c.256C>T (p.Arg86Trp) c.130C>T (p.Arg44Trp) n.287C>T c.-27C>T (n.-27C>T) n.208C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.52154059G>C | CA392483774 | GNB5 | c.256C>G (p.Arg86Gly) c.130C>G (p.Arg44Gly) n.287C>G c.-27C>G (n.-27C>G) n.208C>G | |
15 | g.52154059G= | CA2177211097 | GNB5 | c.256C= (p.Arg86=) c.130C= (p.Arg44=) n.287C= c.-27C= (n.-27C=) n.208C= | |
15 | g.52154059G>T | CA490403735 | GNB5 | c.256C>A (p.Arg86=) c.130C>A (p.Arg44=) n.287C>A c.-27C>A (n.-27C>A) n.208C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.52154060C>A | CA392483778 | GNB5 | c.255G>T (p.Glu85Asp) c.129G>T (p.Glu43Asp) n.286G>T c.-28G>T (n.-28G>T) n.207G>T | |
15 | g.52154060C>G | CA392483780 | GNB5 | c.255G>C (p.Glu85Asp) c.129G>C (p.Glu43Asp) n.286G>C c.-28G>C (n.-28G>C) n.207G>C | |
15 | g.52154060C>T | CA490403736 | GNB5 | c.255G>A (p.Glu85=) c.129G>A (p.Glu43=) n.286G>A c.-28G>A (n.-28G>A) n.207G>A | |
15 | g.52154061T>A | CA392483788 | GNB5 | c.254A>T (p.Glu85Val) c.128A>T (p.Glu43Val) n.285A>T c.-29A>T (n.-29A>T) n.206A>T | |
15 | g.52154061T>C | CA392483796 | GNB5 | c.254A>G (p.Glu85Gly) c.128A>G (p.Glu43Gly) n.285A>G c.-29A>G (n.-29A>G) n.206A>G | |
15 | g.52154061T>G | CA392483799 | GNB5 | c.254A>C (p.Glu85Ala) c.128A>C (p.Glu43Ala) n.285A>C c.-29A>C (n.-29A>C) n.206A>C | |
15 | g.52154062C>A | CA392483802 | GNB5 | c.253G>T (p.Glu85Ter) c.127G>T (p.Glu43Ter) n.284G>T c.-30G>T (n.-30G>T) n.205G>T | |
15 | g.52154062C= | CA2177211100 | GNB5 | c.253G= (p.Glu85=) c.127G= (p.Glu43=) n.284G= c.-30G= (n.-30G=) n.205G= | |
15 | g.52154062C>G | CA392483807 | GNB5 | c.253G>C (p.Glu85Gln) c.127G>C (p.Glu43Gln) n.284G>C c.-30G>C (n.-30G>C) n.205G>C | |
15 | g.52154062C>T | CA392483811 | GNB5 | c.253G>A (p.Glu85Lys) c.127G>A (p.Glu43Lys) n.284G>A c.-30G>A (n.-30G>A) n.205G>A | dbSNP gnomAD v3 gnomAD v4 |
15 | g.52154063C>A | CA490403737 | GNB5 | c.252G>T (p.Ala84=) c.126G>T (p.Ala42=) n.283G>T c.-31G>T (n.-31G>T) n.204G>T | |
15 | g.52154063C= | CA2177211103 | GNB5 | c.252G= (p.Ala84=) c.126G= (p.Ala42=) n.283G= c.-31G= (n.-31G=) n.204G= | |
15 | g.52154063C>G | CA490403738 | GNB5 | c.252G>C (p.Ala84=) c.126G>C (p.Ala42=) n.283G>C c.-31G>C (n.-31G>C) n.204G>C | |
15 | g.52154063C>T | CA7565889 | GNB5 | c.252G>A (p.Ala84=) c.126G>A (p.Ala42=) n.283G>A c.-31G>A (n.-31G>A) n.204G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.52154064G>A | CA7565890 | GNB5 | c.251C>T (p.Ala84Val) c.125C>T (p.Ala42Val) n.282C>T c.-32C>T (n.-32C>T) n.203C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.52154064G>C | CA392483822 | GNB5 | c.251C>G (p.Ala84Gly) c.125C>G (p.Ala42Gly) n.282C>G c.-32C>G (n.-32C>G) n.203C>G | |
15 | g.52154064G= | CA2177211108 | GNB5 | c.251C= (p.Ala84=) c.125C= (p.Ala42=) n.282C= c.-32C= (n.-32C=) n.203C= | |
15 | g.52154064G>T | CA392483818 | GNB5 | c.251C>A (p.Ala84Glu) c.125C>A (p.Ala42Glu) n.282C>A c.-32C>A (n.-32C>A) n.203C>A | |
15 | g.52154065C>A | CA392483830 | GNB5 | c.250G>T (p.Ala84Ser) c.124G>T (p.Ala42Ser) n.281G>T c.-33G>T (n.-33G>T) n.202G>T | |
15 | g.52154065C>G | CA392483838 | GNB5 | c.250G>C (p.Ala84Pro) c.124G>C (p.Ala42Pro) n.281G>C c.-33G>C (n.-33G>C) n.202G>C | |
15 | g.52154065C>T | CA392483843 | GNB5 | c.250G>A (p.Ala84Thr) c.124G>A (p.Ala42Thr) n.281G>A c.-33G>A (n.-33G>A) n.202G>A | |
15 | g.52154066C>A | CA490403739 | GNB5 | c.249G>T (p.Val83=) c.123G>T (p.Val41=) n.280G>T c.-34G>T (n.-34G>T) n.201G>T | |
15 | g.52154066C= | CA2177211113 | GNB5 | c.249G= (p.Val83=) c.123G= (p.Val41=) n.280G= c.-34G= (n.-34G=) n.201G= | |
15 | g.52154066C>G | CA490403741 | GNB5 | c.249G>C (p.Val83=) c.123G>C (p.Val41=) n.280G>C c.-34G>C (n.-34G>C) n.201G>C | |
15 | g.52154066C>T | CA490403740 | GNB5 | c.249G>A (p.Val83=) c.123G>A (p.Val41=) n.280G>A c.-34G>A (n.-34G>A) n.201G>A | dbSNP |
15 | g.52154067A>C | CA392483850 | GNB5 | c.248T>G (p.Val83Gly) c.122T>G (p.Val41Gly) n.279T>G c.-35T>G (n.-35T>G) n.200T>G | gnomAD v4 |
15 | g.52154067A>G | CA392483861 | GNB5 | c.248T>C (p.Val83Ala) c.122T>C (p.Val41Ala) n.279T>C c.-35T>C (n.-35T>C) n.200T>C | |
15 | g.52154067A>T | CA392483875 | GNB5 | c.248T>A (p.Val83Glu) c.122T>A (p.Val41Glu) n.279T>A c.-35T>A (n.-35T>A) n.200T>A |