| 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 |