| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.37965797C>A | CA370694235 | ADRB3 | c.673G>T (p.Ala225Ser) n.801G>T c.157G>T (p.Ala53Ser) | gnomAD v4 |
| 8 | g.37965797C= | CA1777329046 | ADRB3 | c.673G= (p.Ala225=) n.801G= c.157G= (p.Ala53=) | |
| 8 | g.37965797C>G | CA370694238 | ADRB3 | c.673G>C (p.Ala225Pro) n.801G>C c.157G>C (p.Ala53Pro) | |
| 8 | g.37965797C>T | CA4714367 | ADRB3 | c.673G>A (p.Ala225Thr) n.801G>A c.157G>A (p.Ala53Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37965798G>A | CA460494971 | ADRB3 | c.672C>T (p.Tyr224=) n.800C>T c.156C>T (p.Tyr52=) | gnomAD v4 |
| 8 | g.37965798G>C | CA370694241 | ADRB3 | c.672C>G (p.Tyr224Ter) n.800C>G c.156C>G (p.Tyr52Ter) | |
| 8 | g.37965798G= | CA1777329048 | ADRB3 | c.672C= (p.Tyr224=) n.800C= c.156C= (p.Tyr52=) | |
| 8 | g.37965798G>T | CA370694245 | ADRB3 | c.672C>A (p.Tyr224Ter) n.800C>A c.156C>A (p.Tyr52Ter) | dbSNP gnomAD v4 |
| 8 | g.37965798_37965799del | CA2968109991 | ADRB3 | c.671_672del (p.Tyr224CysfsTer?) n.799_800del c.155_156del (p.Tyr52CysfsTer?) | |
| 8 | g.37965799T>A | CA370694250 | ADRB3 | c.671A>T (p.Tyr224Phe) n.799A>T c.155A>T (p.Tyr52Phe) | |
| 8 | g.37965799T>C | CA370694251 | ADRB3 | c.671A>G (p.Tyr224Cys) n.799A>G c.155A>G (p.Tyr52Cys) | gnomAD v4 |
| 8 | g.37965799T>G | CA370694252 | ADRB3 | c.671A>C (p.Tyr224Ser) n.799A>C c.155A>C (p.Tyr52Ser) | gnomAD v4 |
| 8 | g.37965800A>C | CA370694253 | ADRB3 | c.670T>G (p.Tyr224Asp) n.798T>G c.154T>G (p.Tyr52Asp) | |
| 8 | g.37965800A>G | CA370694257 | ADRB3 | c.670T>C (p.Tyr224His) n.798T>C c.154T>C (p.Tyr52His) | gnomAD v4 |
| 8 | g.37965800A>T | CA370694274 | ADRB3 | c.670T>A (p.Tyr224Asn) n.798T>A c.154T>A (p.Tyr52Asn) | |
| 8 | g.37965801_37965802del | CA2968109995 | ADRB3 | c.669_670del (p.Tyr224ArgfsTer?) n.797_798del c.153_154del (p.Tyr52ArgfsTer?) | |
| 8 | g.37965801G>A | CA460494976 | ADRB3 | c.669C>T (p.Val223=) n.797C>T c.153C>T (p.Val51=) | gnomAD v4 |
| 8 | g.37965801G>C | CA460494979 | ADRB3 | c.669C>G (p.Val223=) n.797C>G c.153C>G (p.Val51=) | gnomAD v4 |
| 8 | g.37965801G>T | CA460494981 | ADRB3 | c.669C>A (p.Val223=) n.797C>A c.153C>A (p.Val51=) | |
| 8 | g.37965803_37965805del | CA2968109999 | ADRB3 | c.667_669del (p.Val223del) n.795_797del c.151_153del (p.Val51del) | |
| 8 | g.37965802A>C | CA370694277 | ADRB3 | c.668T>G (p.Val223Gly) n.796T>G c.152T>G (p.Val51Gly) | |
| 8 | g.37965802A>G | CA370694279 | ADRB3 | c.668T>C (p.Val223Ala) n.796T>C c.152T>C (p.Val51Ala) | |
| 8 | g.37965802A>T | CA370694280 | ADRB3 | c.668T>A (p.Val223Asp) n.796T>A c.152T>A (p.Val51Asp) | |
| 8 | g.37965803C>A | CA370694294 | ADRB3 | c.667G>T (p.Val223Phe) n.795G>T c.151G>T (p.Val51Phe) | gnomAD v4 |
| 8 | g.37965803C>G | CA370694286 | ADRB3 | c.667G>C (p.Val223Leu) n.795G>C c.151G>C (p.Val51Leu) | |
| 8 | g.37965803C>T | CA370694282 | ADRB3 | c.667G>A (p.Val223Ile) n.795G>A c.151G>A (p.Val51Ile) | gnomAD v4 |
| 8 | g.37965804G>A | CA460494982 | ADRB3 | c.666C>T (p.Phe222=) n.794C>T c.150C>T (p.Phe50=) | gnomAD v4 |
| 8 | g.37965804G>C | CA4714368 | ADRB3 | c.666C>G (p.Phe222Leu) n.794C>G c.150C>G (p.Phe50Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.37965804G= | CA1777329050 | ADRB3 | c.666C= (p.Phe222=) n.794C= c.150C= (p.Phe50=) | |
| 8 | g.37965804G>T | CA370694299 | ADRB3 | c.666C>A (p.Phe222Leu) n.794C>A c.150C>A (p.Phe50Leu) | gnomAD v4 |
| 8 | g.37965805A>C | CA370694314 | ADRB3 | c.665T>G (p.Phe222Cys) n.793T>G c.149T>G (p.Phe50Cys) | |
| 8 | g.37965805A>G | CA370694318 | ADRB3 | c.665T>C (p.Phe222Ser) n.793T>C c.149T>C (p.Phe50Ser) | |
| 8 | g.37965805A>T | CA370694325 | ADRB3 | c.665T>A (p.Phe222Tyr) n.793T>A c.149T>A (p.Phe50Tyr) | gnomAD v4 |
| 8 | g.37965806A= | CA1777329054 | ADRB3 | c.664T= (p.Phe222=) n.792T= c.148T= (p.Phe50=) | |
| 8 | g.37965806A>C | CA370694331 | ADRB3 | c.664T>G (p.Phe222Val) n.792T>G c.148T>G (p.Phe50Val) | |
| 8 | g.37965806A>G | CA370694333 | ADRB3 | c.664T>C (p.Phe222Leu) n.792T>C c.148T>C (p.Phe50Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37965806A>T | CA370694335 | ADRB3 | c.664T>A (p.Phe222Ile) n.792T>A c.148T>A (p.Phe50Ile) | gnomAD v4 |
| 8 | g.37965807G>A | CA460494985 | ADRB3 | c.663C>T (p.Leu221=) n.791C>T c.147C>T (p.Leu49=) | dbSNP gnomAD v4 |
| 8 | g.37965807G>C | CA460494983 | ADRB3 | c.663C>G (p.Leu221=) n.791C>G c.147C>G (p.Leu49=) | gnomAD v4 |
| 8 | g.37965807G= | CA1777329056 | ADRB3 | c.663C= (p.Leu221=) n.791C= c.147C= (p.Leu49=) | |
| 8 | g.37965807G>T | CA460494984 | ADRB3 | c.663C>A (p.Leu221=) n.791C>A c.147C>A (p.Leu49=) | gnomAD v4 |
| 8 | g.37965807dup | CA2968110004 | ADRB3 | c.663dup (p.Phe222LeufsTer?) n.791dup c.147dup (p.Phe50LeufsTer?) | |
| 8 | g.37965808A>C | CA370694339 | ADRB3 | c.662T>G (p.Leu221Arg) n.790T>G c.146T>G (p.Leu49Arg) | |
| 8 | g.37965808A>G | CA370694343 | ADRB3 | c.662T>C (p.Leu221Pro) n.790T>C c.146T>C (p.Leu49Pro) | gnomAD v4 |
| 8 | g.37965808A>T | CA370694348 | ADRB3 | c.662T>A (p.Leu221His) n.790T>A c.146T>A (p.Leu49His) | |
| 8 | g.37965809G>A | CA370694351 | ADRB3 | c.661C>T (p.Leu221Phe) n.789C>T c.145C>T (p.Leu49Phe) | gnomAD v4 |
| 8 | g.37965809G>C | CA175071654 | ADRB3 | c.661C>G (p.Leu221Val) n.789C>G c.145C>G (p.Leu49Val) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.37965809G= | CA1777329058 | ADRB3 | c.661C= (p.Leu221=) n.789C= c.145C= (p.Leu49=) | |
| 8 | g.37965809G>T | CA370694360 | ADRB3 | c.661C>A (p.Leu221Ile) n.789C>A c.145C>A (p.Leu49Ile) | gnomAD v4 |
| 8 | g.37965810C>A | CA370694369 | ADRB3 | c.660G>T (p.Met220Ile) n.788G>T c.144G>T (p.Met48Ile) |