Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.37966158_37966184delinsCGGCCAGTGGCCAGTCAGCGCCAAGGT | CA1777329288 | ADRB3 | c.286_312delinsACCTTGGCGCTGACTGGCCACTGGCCG (p.Thr96=) n.414_440delinsACCTTGGCGCTGACTGGCCACTGGCCG | |
8 | g.37966159_37966176delinsGGCCAGTGGCCAGTCAGC | CA1777329291 | ADRB3 | c.294_311delinsGCTGACTGGCCACTGGCC (p.Ala98=) n.422_439delinsGCTGACTGGCCACTGGCC | |
8 | g.37966163_37966188del | CA175072285 | ADRB3 | c.286_311del (p.Thr96ValfsTer?) n.414_439del | dbSNP gnomAD v4 |
8 | g.37966164_37966180del | CA4714420 | ADRB3 | c.294_310del (p.Leu99ValfsTer?) n.422_438del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.37966166G>A | CA370696241 | ADRB3 | c.304C>T (p.His102Tyr) n.432C>T | dbSNP gnomAD v4 |
8 | g.37966166G>C | CA370696243 | ADRB3 | c.304C>G (p.His102Asp) n.432C>G | |
8 | g.37966166G= | CA1777329295 | ADRB3 | c.304C= (p.His102=) n.432C= | |
8 | g.37966166G>T | CA370696242 | ADRB3 | c.304C>A (p.His102Asn) n.432C>A | |
8 | g.37966167G>A | CA4714421 | ADRB3 | c.303C>T (p.Gly101=) n.431C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.37966167G>C | CA460494693 | ADRB3 | c.303C>G (p.Gly101=) n.431C>G | |
8 | g.37966167G= | CA1777329296 | ADRB3 | c.303C= (p.Gly101=) n.431C= | |
8 | g.37966167G>T | CA460494694 | ADRB3 | c.303C>A (p.Gly101=) n.431C>A | |
8 | g.37966168C>A | CA370696244 | ADRB3 | c.302G>T (p.Gly101Val) n.430G>T | ClinVar |
8 | g.37966168C>G | CA370696245 | ADRB3 | c.302G>C (p.Gly101Ala) n.430G>C | |
8 | g.37966168C>T | CA370696246 | ADRB3 | c.302G>A (p.Gly101Asp) n.430G>A | gnomAD v4 |
8 | g.37966169C>A | CA370696263 | ADRB3 | c.301G>T (p.Gly101Cys) n.429G>T | |
8 | g.37966169C= | CA1777329297 | ADRB3 | c.301G= (p.Gly101=) n.429G= | |
8 | g.37966169C>G | CA370696268 | ADRB3 | c.301G>C (p.Gly101Arg) n.429G>C | |
8 | g.37966169C>T | CA370696275 | ADRB3 | c.301G>A (p.Gly101Ser) n.429G>A | dbSNP gnomAD v2 gnomAD v4 |
8 | g.37966170A= | CA1777329298 | ADRB3 | c.300T= (p.Thr100=) n.428T= | |
8 | g.37966170A>C | CA4714422 | ADRB3 | c.300T>G (p.Thr100=) n.428T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.37966170A>G | CA460494698 | ADRB3 | c.300T>C (p.Thr100=) n.428T>C | |
8 | g.37966170A>T | CA460494699 | ADRB3 | c.300T>A (p.Thr100=) n.428T>A | dbSNP gnomAD v2 gnomAD v4 |
8 | g.37966171G>A | CA4714423 | ADRB3 | c.299C>T (p.Thr100Ile) n.427C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.37966171G>C | CA370696286 | ADRB3 | c.299C>G (p.Thr100Ser) n.427C>G | |
8 | g.37966171G= | CA1777329299 | ADRB3 | c.299C= (p.Thr100=) n.427C= | |
8 | g.37966171G>T | CA370696287 | ADRB3 | c.299C>A (p.Thr100Asn) n.427C>A | |
8 | g.37966172T>A | CA370696298 | ADRB3 | c.298A>T (p.Thr100Ser) n.426A>T | |
8 | g.37966172T>C | CA175072320 | ADRB3 | c.298A>G (p.Thr100Ala) n.426A>G | dbSNP |
8 | g.37966172T>G | CA370696293 | ADRB3 | c.298A>C (p.Thr100Pro) n.426A>C | |
8 | g.37966172T= | CA1777329300 | ADRB3 | c.298A= (p.Thr100=) n.426A= | |
8 | g.37966173C>A | CA460494703 | ADRB3 | c.297G>T (p.Leu99=) n.425G>T | |
8 | g.37966173C>G | CA460494706 | ADRB3 | c.297G>C (p.Leu99=) n.425G>C | |
8 | g.37966173C>T | CA460494705 | ADRB3 | c.297G>A (p.Leu99=) n.425G>A | |
8 | g.37966174A>C | CA370696302 | ADRB3 | c.296T>G (p.Leu99Arg) n.424T>G | |
8 | g.37966174A>G | CA370696303 | ADRB3 | c.296T>C (p.Leu99Pro) n.424T>C | |
8 | g.37966174A>T | CA370696304 | ADRB3 | c.296T>A (p.Leu99Gln) n.424T>A | |
8 | g.37966175G>A | CA460494707 | ADRB3 | c.295C>T (p.Leu99=) n.423C>T | |
8 | g.37966175G>C | CA370696305 | ADRB3 | c.295C>G (p.Leu99Val) n.423C>G | |
8 | g.37966175G>T | CA370696306 | ADRB3 | c.295C>A (p.Leu99Met) n.423C>A | |
8 | g.37966176C>A | CA460494708 | ADRB3 | c.294G>T (p.Ala98=) n.422G>T | dbSNP gnomAD v2 |
8 | g.37966176C= | CA1777329301 | ADRB3 | c.294G= (p.Ala98=) n.422G= | |
8 | g.37966176C>G | CA460494711 | ADRB3 | c.294G>C (p.Ala98=) n.422G>C | |
8 | g.37966176C>T | CA460494710 | ADRB3 | c.294G>A (p.Ala98=) n.422G>A | dbSNP gnomAD v4 |
8 | g.37966177G>A | CA175072327 | ADRB3 | c.293C>T (p.Ala98Val) n.421C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.37966177G>C | CA370696307 | ADRB3 | c.293C>G (p.Ala98Gly) n.421C>G | |
8 | g.37966177G= | CA1777329302 | ADRB3 | c.293C= (p.Ala98=) n.421C= | |
8 | g.37966177G>T | CA370696309 | ADRB3 | c.293C>A (p.Ala98Glu) n.421C>A | |
8 | g.37966178C>A | CA175072344 | ADRB3 | c.292G>T (p.Ala98Ser) n.420G>T | dbSNP gnomAD v3 gnomAD v4 |
8 | g.37966178C= | CA1777329303 | ADRB3 | c.292G= (p.Ala98=) n.420G= |