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.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= | |
8 | g.37966178C>G | CA370696314 | ADRB3 | c.292G>C (p.Ala98Pro) n.420G>C | |
8 | g.37966178C>T | CA370696315 | ADRB3 | c.292G>A (p.Ala98Thr) n.420G>A | |
8 | g.37966179C>A | CA370696317 | ADRB3 | c.291G>T (p.Leu97Phe) n.419G>T | |
8 | g.37966179C>G | CA370696321 | ADRB3 | c.291G>C (p.Leu97Phe) n.419G>C | |
8 | g.37966179C>T | CA460494719 | ADRB3 | c.291G>A (p.Leu97=) n.419G>A | gnomAD v4 |
8 | g.37966180A>C | CA370696336 | ADRB3 | c.290T>G (p.Leu97Trp) n.418T>G | |
8 | g.37966180A>G | CA370696331 | ADRB3 | c.290T>C (p.Leu97Ser) n.418T>C | |
8 | g.37966180A>T | CA370696326 | ADRB3 | c.290T>A (p.Leu97Ter) n.418T>A | |
8 | g.37966181A= | CA1777329304 | ADRB3 | c.289T= (p.Leu97=) n.417T= | |
8 | g.37966181A>C | CA370696876 | ADRB3 | c.289T>G (p.Leu97Val) n.417T>G | |
8 | g.37966181A>G | CA460494720 | ADRB3 | c.289T>C (p.Leu97=) n.417T>C | gnomAD v4 |
8 | g.37966181A>T | CA370696872 | ADRB3 | c.289T>A (p.Leu97Met) n.417T>A | dbSNP gnomAD v2 gnomAD v4 |
8 | g.37966182G>A | CA460494725 | ADRB3 | c.288C>T (p.Thr96=) n.416C>T | |
8 | g.37966182G>C | CA4714424 | ADRB3 | c.288C>G (p.Thr96=) n.416C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.37966182G= | CA1777329305 | ADRB3 | c.288C= (p.Thr96=) n.416C= | |
8 | g.37966182G>T | CA460494726 | ADRB3 | c.288C>A (p.Thr96=) n.416C>A | |
8 | g.37966183G>A | CA4714425 | ADRB3 | c.287C>T (p.Thr96Ile) n.415C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.37966183G>C | CA370696911 | ADRB3 | c.287C>G (p.Thr96Ser) n.415C>G | |
8 | g.37966183G= | CA1777329306 | ADRB3 | c.287C= (p.Thr96=) n.415C= | |
8 | g.37966183G>T | CA370696923 | ADRB3 | c.287C>A (p.Thr96Asn) n.415C>A | |
8 | g.37966184T>A | CA370696937 | ADRB3 | c.286A>T (p.Thr96Ser) n.414A>T | |
8 | g.37966184T>C | CA370696930 | ADRB3 | c.286A>G (p.Thr96Ala) n.414A>G | |
8 | g.37966184T>G | CA370696927 | ADRB3 | c.286A>C (p.Thr96Pro) n.414A>C | |
8 | g.37966185G>A | CA460494730 | ADRB3 | c.285C>T (p.Ala95=) n.413C>T | dbSNP |
8 | g.37966185G>C | CA460494731 | ADRB3 | c.285C>G (p.Ala95=) n.413C>G | |
8 | g.37966185G= | CA1777329307 | ADRB3 | c.285C= (p.Ala95=) n.413C= | |
8 | g.37966185G>T | CA460494732 | ADRB3 | c.285C>A (p.Ala95=) n.413C>A | gnomAD v4 |
8 | g.37966186G>A | CA370696940 | ADRB3 | c.284C>T (p.Ala95Val) n.412C>T | |
8 | g.37966186G>C | CA370696947 | ADRB3 | c.284C>G (p.Ala95Gly) n.412C>G | |
8 | g.37966186G>T | CA370696950 | ADRB3 | c.284C>A (p.Ala95Asp) n.412C>A |