| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.37965793C>A | CA370694216 | ADRB3 | c.677G>T (p.Arg226Leu) n.805G>T c.161G>T (p.Arg54Leu) | gnomAD v4 |
| 8 | g.37965793C>G | CA370694214 | ADRB3 | c.677G>C (p.Arg226Pro) n.805G>C c.161G>C (p.Arg54Pro) | |
| 8 | g.37965793C>T | CA370694215 | ADRB3 | c.677G>A (p.Arg226Gln) n.805G>A c.161G>A (p.Arg54Gln) | |
| 8 | g.37965794del | CA2968109985 | ADRB3 | c.676del (p.Arg226GlyfsTer?) n.804del c.160del (p.Arg54GlyfsTer?) | |
| 8 | g.37965794G>A | CA370694217 | ADRB3 | c.676C>T (p.Arg226Trp) n.804C>T c.160C>T (p.Arg54Trp) | gnomAD v4 |
| 8 | g.37965794G>C | CA370694218 | ADRB3 | c.676C>G (p.Arg226Gly) n.804C>G c.160C>G (p.Arg54Gly) | |
| 8 | g.37965794G= | CA1777329038 | ADRB3 | c.676C= (p.Arg226=) n.804C= c.160C= (p.Arg54=) | |
| 8 | g.37965794G>T | CA460494956 | ADRB3 | c.676C>A (p.Arg226=) n.804C>A c.160C>A (p.Arg54=) | dbSNP gnomAD v4 |
| 8 | g.37965795C>A | CA460494962 | ADRB3 | c.675G>T (p.Ala225=) n.803G>T c.159G>T (p.Ala53=) | gnomAD v4 |
| 8 | g.37965795C>G | CA460494963 | ADRB3 | c.675G>C (p.Ala225=) n.803G>C c.159G>C (p.Ala53=) | |
| 8 | g.37965795C>T | CA460494964 | ADRB3 | c.675G>A (p.Ala225=) n.803G>A c.159G>A (p.Ala53=) | gnomAD v4 |
| 8 | g.37965796G>A | CA370694221 | ADRB3 | c.674C>T (p.Ala225Val) n.802C>T c.158C>T (p.Ala53Val) | gnomAD v4 |
| 8 | g.37965796G>C | CA370694225 | ADRB3 | c.674C>G (p.Ala225Gly) n.802C>G c.158C>G (p.Ala53Gly) | |
| 8 | g.37965796G= | CA1777329042 | ADRB3 | c.674C= (p.Ala225=) n.802C= c.158C= (p.Ala53=) | |
| 8 | g.37965796G>T | CA370694229 | ADRB3 | c.674C>A (p.Ala225Glu) n.802C>A c.158C>A (p.Ala53Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 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) |