| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.37965660_37965670del | CA2686921897 | ADRB3 | c.800_810del (p.Ala267GlyfsTer?) n.928_938del c.284_294del (p.Ala95GlyfsTer?) n.75_85del | gnomAD v4 |
| 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.37965662_37965670delinsCGGGCGGAG | CA1777328903 | ADRB3 | c.800_808delinsCTCCGCCCG (p.Ala267=) n.928_936delinsCTCCGCCCG c.284_292delinsCTCCGCCCG (p.Ala95=) n.75_83delinsCTCCGCCCG | |
| 8 | g.37965663_37965670del | CA1777328904 | ADRB3 | c.800_807del (p.Ala267GlyfsTer?) n.928_935del c.284_291del (p.Ala95GlyfsTer?) n.75_82del | dbSNP |
| 8 | g.37965670G>A | CA4714349 | ADRB3 | c.800C>T (p.Ala267Val) n.928C>T c.284C>T (p.Ala95Val) n.75C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.37965670G>C | CA370693396 | ADRB3 | c.800C>G (p.Ala267Gly) n.928C>G c.284C>G (p.Ala95Gly) n.75C>G | |
| 8 | g.37965670G= | CA1777328911 | ADRB3 | c.800C= (p.Ala267=) n.928C= c.284C= (p.Ala95=) n.75C= | |
| 8 | g.37965670G>T | CA370693399 | ADRB3 | c.800C>A (p.Ala267Asp) n.928C>A c.284C>A (p.Ala95Asp) n.75C>A | gnomAD v4 |
| 8 | g.37965671C>A | CA370693402 | ADRB3 | c.799G>T (p.Ala267Ser) n.927G>T c.283G>T (p.Ala95Ser) n.74G>T | |
| 8 | g.37965671C= | CA1777328912 | ADRB3 | c.799G= (p.Ala267=) n.927G= c.283G= (p.Ala95=) n.74G= | |
| 8 | g.37965671C>G | CA370693405 | ADRB3 | c.799G>C (p.Ala267Pro) n.927G>C c.283G>C (p.Ala95Pro) n.74G>C | gnomAD v4 |
| 8 | g.37965671C>T | CA175071151 | ADRB3 | c.799G>A (p.Ala267Thr) n.927G>A c.283G>A (p.Ala95Thr) n.74G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37965671_37965672insCCT | CA2686921898 | ADRB3 | c.798_799insAGG (p.Cys266_Ala267insArg) n.926_927insAGG c.282_283insAGG (p.Cys94_Ala95insArg) n.73_74insAGG | gnomAD v4 |
| 8 | g.37965672G>A | CA175071156 | ADRB3 | c.798C>T (p.Cys266=) n.926C>T c.282C>T (p.Cys94=) n.73C>T | dbSNP gnomAD v4 |
| 8 | g.37965672G>C | CA370693410 | ADRB3 | c.798C>G (p.Cys266Trp) n.926C>G c.282C>G (p.Cys94Trp) n.73C>G | dbSNP gnomAD v4 |
| 8 | g.37965672G= | CA1777328913 | ADRB3 | c.798C= (p.Cys266=) n.926C= c.282C= (p.Cys94=) n.73C= | |
| 8 | g.37965672G>T | CA370693413 | ADRB3 | c.798C>A (p.Cys266Ter) n.926C>A c.282C>A (p.Cys94Ter) n.73C>A | |
| 8 | g.37965673C>A | CA370693431 | ADRB3 | c.797G>T (p.Cys266Phe) n.925G>T c.281G>T (p.Cys94Phe) n.72G>T | |
| 8 | g.37965673C>G | CA370693422 | ADRB3 | c.797G>C (p.Cys266Ser) n.925G>C c.281G>C (p.Cys94Ser) n.72G>C | |
| 8 | g.37965673C>T | CA370693417 | ADRB3 | c.797G>A (p.Cys266Tyr) n.925G>A c.281G>A (p.Cys94Tyr) n.72G>A | |
| 8 | g.37965674A= | CA1777328914 | ADRB3 | c.796T= (p.Cys266=) n.924T= c.280T= (p.Cys94=) n.71T= | |
| 8 | g.37965674A>C | CA370693435 | ADRB3 | c.796T>G (p.Cys266Gly) n.924T>G c.280T>G (p.Cys94Gly) n.71T>G | |
| 8 | g.37965674A>G | CA370693436 | ADRB3 | c.796T>C (p.Cys266Arg) n.924T>C c.280T>C (p.Cys94Arg) n.71T>C | dbSNP |
| 8 | g.37965674A>T | CA370693437 | ADRB3 | c.796T>A (p.Cys266Ser) n.924T>A c.280T>A (p.Cys94Ser) n.71T>A | |
| 8 | g.37965675C>A | CA460494421 | ADRB3 | c.795G>T (p.Thr265=) n.923G>T c.279G>T (p.Thr93=) n.70G>T | dbSNP gnomAD v4 |
| 8 | g.37965675C= | CA1777328915 | ADRB3 | c.795G= (p.Thr265=) n.923G= c.279G= (p.Thr93=) n.70G= | |
| 8 | g.37965675C>G | CA460494423 | ADRB3 | c.795G>C (p.Thr265=) n.923G>C c.279G>C (p.Thr93=) n.70G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37965675C>T | CA460494425 | ADRB3 | c.795G>A (p.Thr265=) n.923G>A c.279G>A (p.Thr93=) n.70G>A | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.37965676G>A | CA4714350 | ADRB3 | c.794C>T (p.Thr265Met) n.922C>T c.278C>T (p.Thr93Met) n.69C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37965676G>C | CA4714351 | ADRB3 | c.794C>G (p.Thr265Arg) n.922C>G c.278C>G (p.Thr93Arg) n.69C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37965676G= | CA1777328916 | ADRB3 | c.794C= (p.Thr265=) n.922C= c.278C= (p.Thr93=) n.69C= | |
| 8 | g.37965676G>T | CA370693438 | ADRB3 | c.794C>A (p.Thr265Lys) n.922C>A c.278C>A (p.Thr93Lys) n.69C>A | |
| 8 | g.37965677T>A | CA370693439 | ADRB3 | c.793A>T (p.Thr265Ser) n.921A>T c.277A>T (p.Thr93Ser) n.68A>T | |
| 8 | g.37965677T>C | CA370693440 | ADRB3 | c.793A>G (p.Thr265Ala) n.921A>G c.277A>G (p.Thr93Ala) n.68A>G | |
| 8 | g.37965677T>G | CA370693441 | ADRB3 | c.793A>C (p.Thr265Pro) n.921A>C c.277A>C (p.Thr93Pro) n.68A>C | |
| 8 | g.37965678C>A | CA460494429 | ADRB3 | c.792G>T (p.Gly264=) n.920G>T c.276G>T (p.Gly92=) n.67G>T | gnomAD v4 |
| 8 | g.37965678C>G | CA460494430 | ADRB3 | c.792G>C (p.Gly264=) n.920G>C c.276G>C (p.Gly92=) n.67G>C | |
| 8 | g.37965678C>T | CA460494431 | ADRB3 | c.792G>A (p.Gly264=) n.920G>A c.276G>A (p.Gly92=) n.67G>A | gnomAD v4 |
| 8 | g.37965681del | CA2968109764 | ADRB3 | c.792del (p.Thr265ArgfsTer?) n.920del c.276del (p.Thr93ArgfsTer?) n.67del | |
| 8 | g.37965679C>A | CA370693442 | ADRB3 | c.791G>T (p.Gly264Val) n.919G>T c.275G>T (p.Gly92Val) n.66G>T | gnomAD v4 |
| 8 | g.37965679C= | CA1777328917 | ADRB3 | c.791G= (p.Gly264=) n.919G= c.275G= (p.Gly92=) n.66G= | |
| 8 | g.37965679C>G | CA4714352 | ADRB3 | c.791G>C (p.Gly264Ala) n.919G>C c.275G>C (p.Gly92Ala) n.66G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37965679C>T | CA370693443 | ADRB3 | c.791G>A (p.Gly264Glu) n.919G>A c.275G>A (p.Gly92Glu) n.66G>A | dbSNP gnomAD v4 |
| 8 | g.37965680C>A | CA370693446 | ADRB3 | c.790G>T (p.Gly264Trp) n.918G>T c.274G>T (p.Gly92Trp) n.65G>T | gnomAD v4 |
| 8 | g.37965680C= | CA1777328918 | ADRB3 | c.790G= (p.Gly264=) n.918G= c.274G= (p.Gly92=) n.65G= | |
| 8 | g.37965680C>G | CA370693448 | ADRB3 | c.790G>C (p.Gly264Arg) n.918G>C c.274G>C (p.Gly92Arg) n.65G>C | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.37965680C>T | CA370693445 | ADRB3 | c.790G>A (p.Gly264Arg) n.918G>A c.274G>A (p.Gly92Arg) n.65G>A | |
| 8 | g.37965681C>A | CA460494435 | ADRB3 | c.789G>T (p.Val263=) n.917G>T c.273G>T (p.Val91=) n.64G>T | |
| 8 | g.37965681C>G | CA460494437 | ADRB3 | c.789G>C (p.Val263=) n.917G>C c.273G>C (p.Val91=) n.64G>C | |
| 8 | g.37965681C>T | CA460494438 | ADRB3 | c.789G>A (p.Val263=) n.917G>A c.273G>A (p.Val91=) n.64G>A |