| 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.37965697A>C | CA370693533 | ADRB3 | c.773T>G (p.Leu258Arg) n.901T>G c.257T>G (p.Leu86Arg) n.48T>G | |
| 8 | g.37965697A>G | CA370693534 | ADRB3 | c.773T>C (p.Leu258Pro) n.901T>C c.257T>C (p.Leu86Pro) n.48T>C | |
| 8 | g.37965697A>T | CA370693535 | ADRB3 | c.773T>A (p.Leu258Gln) n.901T>A c.257T>A (p.Leu86Gln) n.48T>A | |
| 8 | g.37965698G>A | CA460494476 | ADRB3 | c.772C>T (p.Leu258=) n.900C>T c.256C>T (p.Leu86=) n.47C>T | |
| 8 | g.37965698G>C | CA370693536 | ADRB3 | c.772C>G (p.Leu258Val) n.900C>G c.256C>G (p.Leu86Val) n.47C>G | |
| 8 | g.37965698G>T | CA370693537 | ADRB3 | c.772C>A (p.Leu258Met) n.900C>A c.256C>A (p.Leu86Met) n.47C>A | |
| 8 | g.37965699A>C | CA460494477 | ADRB3 | c.771T>G (p.Ser257=) n.899T>G c.255T>G (p.Ser85=) n.46T>G | |
| 8 | g.37965699A>G | CA460494478 | ADRB3 | c.771T>C (p.Ser257=) n.899T>C c.255T>C (p.Ser85=) n.46T>C | |
| 8 | g.37965699A>T | CA460494479 | ADRB3 | c.771T>A (p.Ser257=) n.899T>A c.255T>A (p.Ser85=) n.46T>A | |
| 8 | g.37965700G>A | CA370693538 | ADRB3 | c.770C>T (p.Ser257Phe) n.898C>T c.254C>T (p.Ser85Phe) n.45C>T | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.37965700G>C | CA370693542 | ADRB3 | c.770C>G (p.Ser257Cys) n.898C>G c.254C>G (p.Ser85Cys) n.45C>G | |
| 8 | g.37965700G= | CA1777328933 | ADRB3 | c.770C= (p.Ser257=) n.898C= c.254C= (p.Ser85=) n.45C= | |
| 8 | g.37965700G>T | CA370693544 | ADRB3 | c.770C>A (p.Ser257Tyr) n.898C>A c.254C>A (p.Ser85Tyr) n.45C>A | gnomAD v4 |
| 8 | g.37965701A= | CA1777328934 | ADRB3 | c.769T= (p.Ser257=) n.897T= c.253T= (p.Ser85=) n.44T= | |
| 8 | g.37965701A>C | CA370693548 | ADRB3 | c.769T>G (p.Ser257Ala) n.897T>G c.253T>G (p.Ser85Ala) n.44T>G | |
| 8 | g.37965701A>G | CA175071244 | ADRB3 | c.769T>C (p.Ser257Pro) n.897T>C c.253T>C (p.Ser85Pro) n.44T>C | dbSNP |
| 8 | g.37965701A>T | CA175071249 | ADRB3 | c.769T>A (p.Ser257Thr) n.897T>A c.253T>A (p.Ser85Thr) n.44T>A | dbSNP |
| 8 | g.37965702G>A | CA460494486 | ADRB3 | c.768C>T (p.Arg256=) n.896C>T c.252C>T (p.Arg84=) n.43C>T | |
| 8 | g.37965702G>C | CA460494487 | ADRB3 | c.768C>G (p.Arg256=) n.896C>G c.252C>G (p.Arg84=) n.43C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37965702G= | CA1777328935 | ADRB3 | c.768C= (p.Arg256=) n.896C= c.252C= (p.Arg84=) n.43C= | |
| 8 | g.37965702G>T | CA460494488 | ADRB3 | c.768C>A (p.Arg256=) n.896C>A c.252C>A (p.Arg84=) n.43C>A | |
| 8 | g.37965705_37965706del | CA2968109854 | ADRB3 | c.767_768del (p.Arg256LeufsTer?) n.895_896del c.251_252del (p.Arg84LeufsTer?) n.42_43del | |
| 8 | g.37965703C>A | CA370693551 | ADRB3 | c.767G>T (p.Arg256Leu) n.895G>T c.251G>T (p.Arg84Leu) n.42G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.37965703C= | CA1777328936 | ADRB3 | c.767G= (p.Arg256=) n.895G= c.251G= (p.Arg84=) n.42G= | |
| 8 | g.37965703C>G | CA370693552 | ADRB3 | c.767G>C (p.Arg256Pro) n.895G>C c.251G>C (p.Arg84Pro) n.42G>C | |
| 8 | g.37965703C>T | CA370693553 | ADRB3 | c.767G>A (p.Arg256His) n.895G>A c.251G>A (p.Arg84His) n.42G>A | gnomAD v4 |
| 8 | g.37965704G>A | CA370693559 | ADRB3 | c.766C>T (p.Arg256Cys) n.894C>T c.250C>T (p.Arg84Cys) n.41C>T | |
| 8 | g.37965704G>C | CA370693561 | ADRB3 | c.766C>G (p.Arg256Gly) n.894C>G c.250C>G (p.Arg84Gly) n.41C>G | |
| 8 | g.37965704G= | CA1777328937 | ADRB3 | c.766C= (p.Arg256=) n.894C= c.250C= (p.Arg84=) n.41C= | |
| 8 | g.37965704G>T | CA370693556 | ADRB3 | c.766C>A (p.Arg256Ser) n.894C>A c.250C>A (p.Arg84Ser) n.41C>A | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.37965707_37965712dup | CA2686921899 | ADRB3 | c.761_766dup (p.Ser255_Arg256insProSer) n.889_894dup c.245_250dup (p.Ser83_Arg84insProSer) n.36_41dup | gnomAD v4 |
| 8 | g.37965705C>A | CA460494491 | ADRB3 | c.765G>T (p.Ser255=) n.893G>T c.249G>T (p.Ser83=) n.40G>T | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.37965705C= | CA1777328938 | ADRB3 | c.765G= (p.Ser255=) n.893G= c.249G= (p.Ser83=) n.40G= | |
| 8 | g.37965705C>G | CA460494492 | ADRB3 | c.765G>C (p.Ser255=) n.893G>C c.249G>C (p.Ser83=) n.40G>C | |
| 8 | g.37965705C>T | CA175071259 | ADRB3 | c.765G>A (p.Ser255=) n.893G>A c.249G>A (p.Ser83=) n.40G>A | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.37965706G>A | CA370693563 | ADRB3 | c.764C>T (p.Ser255Leu) n.892C>T c.248C>T (p.Ser83Leu) n.39C>T | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.37965706G>C | CA370693565 | ADRB3 | c.764C>G (p.Ser255Trp) n.892C>G c.248C>G (p.Ser83Trp) n.39C>G | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.37965706G= | CA1777328939 | ADRB3 | c.764C= (p.Ser255=) n.892C= c.248C= (p.Ser83=) n.39C= | |
| 8 | g.37965706G>T | CA370693567 | ADRB3 | c.764C>A (p.Ser255Ter) n.892C>A c.248C>A (p.Ser83Ter) n.39C>A | |
| 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 | 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= | |
| 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 | 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 |