| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.37965670_37965735del | CA2968109739 | ADRB3 | c.744_809del (p.Glu249_Glu270del) n.872_937del c.228_293del (p.Glu77_Glu98del) n.19_84del | |
| 8 | g.37965707_37965712dup | CA2686921899 | ADRB3 | c.761_766dup (p.Ser255_Arg256insProSer) n.889_894dup c.245_250dup (p.Ser83_Arg84insProSer) n.36_41dup | dbSNP gnomAD v4 |
| 8 | g.37965707A= | CA3161019714 | ADRB3 | c.763T= (p.Ser255=) n.891T= c.247T= (p.Ser83=) n.38T= | dbSNP |
| 8 | g.37965707A>C | CA370693570 | ADRB3 | c.763T>G (p.Ser255Ala) n.891T>G c.247T>G (p.Ser83Ala) n.38T>G | |
| 8 | g.37965707A>G | CA370693577 | ADRB3 | c.763T>C (p.Ser255Pro) n.891T>C c.247T>C (p.Ser83Pro) n.38T>C | dbSNP gnomAD v4 |
| 8 | g.37965707A>T | CA370693579 | ADRB3 | c.763T>A (p.Ser255Thr) n.891T>A c.247T>A (p.Ser83Thr) n.38T>A | |
| 8 | g.37965708del | CA2968109872 | ADRB3 | c.762del (p.Ser255ArgfsTer?) n.890del c.246del (p.Ser83ArgfsTer?) n.37del | |
| 8 | g.37965708C>A | CA460494496 | ADRB3 | c.762G>T (p.Pro254=) n.890G>T c.246G>T (p.Pro82=) n.37G>T | dbSNP gnomAD v4 |
| 8 | g.37965708C= | CA1777328940 | ADRB3 | c.762G= (p.Pro254=) n.890G= c.246G= (p.Pro82=) n.37G= | dbSNP |
| 8 | g.37965708C>G | CA460494498 | ADRB3 | c.762G>C (p.Pro254=) n.890G>C c.246G>C (p.Pro82=) n.37G>C | |
| 8 | g.37965708C>T | CA460494497 | ADRB3 | c.762G>A (p.Pro254=) n.890G>A c.246G>A (p.Pro82=) n.37G>A | dbSNP gnomAD v4 |
| 8 | g.37965709G>A | CA370693581 | ADRB3 | c.761C>T (p.Pro254Leu) n.889C>T c.245C>T (p.Pro82Leu) n.36C>T | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.37965709G>C | CA370693585 | ADRB3 | c.761C>G (p.Pro254Arg) n.889C>G c.245C>G (p.Pro82Arg) n.36C>G | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.37965709G= | CA1777328941 | ADRB3 | c.761C= (p.Pro254=) n.889C= c.245C= (p.Pro82=) n.36C= | dbSNP |
| 8 | g.37965709G>T | CA370693583 | ADRB3 | c.761C>A (p.Pro254Gln) n.889C>A c.245C>A (p.Pro82Gln) n.36C>A | dbSNP |
| 8 | g.37965710G>A | CA370693591 | ADRB3 | c.760C>T (p.Pro254Ser) n.888C>T c.244C>T (p.Pro82Ser) n.35C>T | gnomAD v4 |
| 8 | g.37965710G>C | CA370693602 | ADRB3 | c.760C>G (p.Pro254Ala) n.888C>G c.244C>G (p.Pro82Ala) n.35C>G | |
| 8 | g.37965710G>T | CA370693612 | ADRB3 | c.760C>A (p.Pro254Thr) n.888C>A c.244C>A (p.Pro82Thr) n.35C>A | gnomAD v4 |
| 8 | g.37965711C>A | CA460494505 | ADRB3 | c.759G>T (p.Ala253=) n.887G>T c.243G>T (p.Ala81=) n.34G>T | gnomAD v4 |
| 8 | g.37965711C= | CA1777328942 | ADRB3 | c.759G= (p.Ala253=) n.887G= c.243G= (p.Ala81=) n.34G= | dbSNP |
| 8 | g.37965711C>G | CA460494503 | ADRB3 | c.759G>C (p.Ala253=) n.887G>C c.243G>C (p.Ala81=) n.34G>C | |
| 8 | g.37965711C>T | CA175071264 | ADRB3 | c.759G>A (p.Ala253=) n.887G>A c.243G>A (p.Ala81=) n.34G>A | dbSNP gnomAD v4 |
| 8 | g.37965712G>A | CA370693615 | ADRB3 | c.758C>T (p.Ala253Val) n.886C>T c.242C>T (p.Ala81Val) n.33C>T | dbSNP gnomAD v4 |
| 8 | g.37965712G>C | CA370693631 | ADRB3 | c.758C>G (p.Ala253Gly) n.886C>G c.242C>G (p.Ala81Gly) n.33C>G | |
| 8 | g.37965712G= | CA1777328943 | ADRB3 | c.758C= (p.Ala253=) n.886C= c.242C= (p.Ala81=) n.33C= | dbSNP |
| 8 | g.37965712G>T | CA370693629 | ADRB3 | c.758C>A (p.Ala253Glu) n.886C>A c.242C>A (p.Ala81Glu) n.33C>A | dbSNP gnomAD v4 |
| 8 | g.37965713C>A | CA370693633 | ADRB3 | c.757G>T (p.Ala253Ser) n.885G>T c.241G>T (p.Ala81Ser) n.32G>T | gnomAD v4 |
| 8 | g.37965713C= | CA3159537690 | ADRB3 | c.757G= (p.Ala253=) n.885G= c.241G= (p.Ala81=) n.32G= | dbSNP |
| 8 | g.37965713C>G | CA370693636 | ADRB3 | c.757G>C (p.Ala253Pro) n.885G>C c.241G>C (p.Ala81Pro) n.32G>C | |
| 8 | g.37965713C>T | CA370693639 | ADRB3 | c.757G>A (p.Ala253Thr) n.885G>A c.241G>A (p.Ala81Thr) n.32G>A | dbSNP gnomAD v4 |
| 8 | g.37965714dup | CA2686921900 | ADRB3 | c.757dup (p.Ala253GlyfsTer?) n.885dup c.241dup (p.Ala81GlyfsTer?) n.32dup | dbSNP gnomAD v4 |
| 8 | g.37965714C>A | CA460494510 | ADRB3 | c.756G>T (p.Pro252=) n.884G>T c.240G>T (p.Pro80=) n.31G>T | |
| 8 | g.37965714C= | CA1777328944 | ADRB3 | c.756G= (p.Pro252=) n.884G= c.240G= (p.Pro80=) n.31G= | dbSNP |
| 8 | g.37965714C>G | CA175071272 | ADRB3 | c.756G>C (p.Pro252=) n.884G>C c.240G>C (p.Pro80=) n.31G>C | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.37965714C>T | CA460494511 | ADRB3 | c.756G>A (p.Pro252=) n.884G>A c.240G>A (p.Pro80=) n.31G>A | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.37965715G>A | CA4714355 | ADRB3 | c.755C>T (p.Pro252Leu) n.883C>T c.239C>T (p.Pro80Leu) n.30C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37965715G>C | CA370693644 | ADRB3 | c.755C>G (p.Pro252Arg) n.883C>G c.239C>G (p.Pro80Arg) n.30C>G | gnomAD v4 |
| 8 | g.37965715G= | CA1777328945 | ADRB3 | c.755C= (p.Pro252=) n.883C= c.239C= (p.Pro80=) n.30C= | dbSNP |
| 8 | g.37965715G>T | CA370693645 | ADRB3 | c.755C>A (p.Pro252Gln) n.883C>A c.239C>A (p.Pro80Gln) n.30C>A | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.37965716G>A | CA370693650 | ADRB3 | c.754C>T (p.Pro252Ser) n.882C>T c.238C>T (p.Pro80Ser) n.29C>T | gnomAD v4 |
| 8 | g.37965716G>C | CA370693653 | ADRB3 | c.754C>G (p.Pro252Ala) n.882C>G c.238C>G (p.Pro80Ala) n.29C>G | |
| 8 | g.37965716G>T | CA370693656 | ADRB3 | c.754C>A (p.Pro252Thr) n.882C>A c.238C>A (p.Pro80Thr) n.29C>A | |
| 8 | g.37965717C>A | CA460494517 | ADRB3 | c.753G>T (p.Pro251=) n.881G>T c.237G>T (p.Pro79=) n.28G>T | dbSNP gnomAD v4 |
| 8 | g.37965717C= | CA1777328946 | ADRB3 | c.753G= (p.Pro251=) n.881G= c.237G= (p.Pro79=) n.28G= | dbSNP |
| 8 | g.37965717C>G | CA460494518 | ADRB3 | c.753G>C (p.Pro251=) n.881G>C c.237G>C (p.Pro79=) n.28G>C | |
| 8 | g.37965717C>T | CA460494519 | ADRB3 | c.753G>A (p.Pro251=) n.881G>A c.237G>A (p.Pro79=) n.28G>A | gnomAD v4 |
| 8 | g.37965718G>A | CA370693663 | ADRB3 | c.752C>T (p.Pro251Leu) n.880C>T c.236C>T (p.Pro79Leu) n.27C>T | gnomAD v4 |
| 8 | g.37965718G>C | CA370693660 | ADRB3 | c.752C>G (p.Pro251Arg) n.880C>G c.236C>G (p.Pro79Arg) n.27C>G | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.37965718G= | CA1777328947 | ADRB3 | c.752C= (p.Pro251=) n.880C= c.236C= (p.Pro79=) n.27C= | dbSNP |
| 8 | g.37965718G>T | CA370693659 | ADRB3 | c.752C>A (p.Pro251Gln) n.880C>A c.236C>A (p.Pro79Gln) n.27C>A | gnomAD v4 |