Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.37965880_37965894del | CA2686921904 | ADRB3 | c.577_591del (p.Pro193_Ala197del) n.705_719del c.61_75del (p.Pro21_Ala25del) | gnomAD v4 |
8 | g.37965880G>A | CA370694706 | ADRB3 | c.590C>T (p.Ala197Val) n.718C>T c.74C>T (p.Ala25Val) | gnomAD v4 |
8 | g.37965880G>C | CA370694707 | ADRB3 | c.590C>G (p.Ala197Gly) n.718C>G c.74C>G (p.Ala25Gly) | |
8 | g.37965880G>T | CA370694710 | ADRB3 | c.590C>A (p.Ala197Asp) n.718C>A c.74C>A (p.Ala25Asp) | gnomAD v4 |
8 | g.37965881C>A | CA370694717 | ADRB3 | c.589G>T (p.Ala197Ser) n.717G>T c.73G>T (p.Ala25Ser) | gnomAD v4 |
8 | g.37965881C= | CA1777329132 | ADRB3 | c.589G= (p.Ala197=) n.717G= c.73G= (p.Ala25=) | |
8 | g.37965881C>G | CA370694720 | ADRB3 | c.589G>C (p.Ala197Pro) n.717G>C c.73G>C (p.Ala25Pro) | |
8 | g.37965881C>T | CA4714374 | ADRB3 | c.589G>A (p.Ala197Thr) n.717G>A c.73G>A (p.Ala25Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.37965882A= | CA1777329133 | ADRB3 | c.588T= (p.Cys196=) n.716T= c.72T= (p.Cys24=) | |
8 | g.37965882A>C | CA370694725 | ADRB3 | c.588T>G (p.Cys196Trp) n.716T>G c.72T>G (p.Cys24Trp) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.37965882A>G | CA4714375 | ADRB3 | c.588T>C (p.Cys196=) n.716T>C c.72T>C (p.Cys24=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.37965882A>T | CA370694726 | ADRB3 | c.588T>A (p.Cys196Ter) n.716T>A c.72T>A (p.Cys24Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.37965883C>A | CA370694727 | ADRB3 | c.587G>T (p.Cys196Phe) n.715G>T c.71G>T (p.Cys24Phe) | gnomAD v4 COSMIC |
8 | g.37965883C= | CA1777329134 | ADRB3 | c.587G= (p.Cys196=) n.715G= c.71G= (p.Cys24=) | |
8 | g.37965883C>G | CA370694730 | ADRB3 | c.587G>C (p.Cys196Ser) n.715G>C c.71G>C (p.Cys24Ser) | gnomAD v4 |
8 | g.37965883C>T | CA370694732 | ADRB3 | c.587G>A (p.Cys196Tyr) n.715G>A c.71G>A (p.Cys24Tyr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.37965884A>C | CA370694733 | ADRB3 | c.586T>G (p.Cys196Gly) n.714T>G c.70T>G (p.Cys24Gly) | |
8 | g.37965884A>G | CA370694734 | ADRB3 | c.586T>C (p.Cys196Arg) n.714T>C c.70T>C (p.Cys24Arg) | gnomAD v4 |
8 | g.37965884A>T | CA370694738 | ADRB3 | c.586T>A (p.Cys196Ser) n.714T>A c.70T>A (p.Cys24Ser) | |
8 | g.37965885G>A | CA460495091 | ADRB3 | c.585C>T (p.Cys195=) n.713C>T c.69C>T (p.Cys23=) | gnomAD v4 |
8 | g.37965885G>C | CA370694741 | ADRB3 | c.585C>G (p.Cys195Trp) n.713C>G c.69C>G (p.Cys23Trp) | |
8 | g.37965885G>T | CA370694743 | ADRB3 | c.585C>A (p.Cys195Ter) n.713C>A c.69C>A (p.Cys23Ter) | gnomAD v4 |
8 | g.37965886del | CA2968110087 | ADRB3 | c.584del (p.Cys195SerfsTer25) n.712del c.68del (p.Cys23SerfsTer25) | |
8 | g.37965886C>A | CA370694747 | ADRB3 | c.584G>T (p.Cys195Phe) n.712G>T c.68G>T (p.Cys23Phe) | gnomAD v4 |
8 | g.37965886C>G | CA370694751 | ADRB3 | c.584G>C (p.Cys195Ser) n.712G>C c.68G>C (p.Cys23Ser) | |
8 | g.37965886C>T | CA370694753 | ADRB3 | c.584G>A (p.Cys195Tyr) n.712G>A c.68G>A (p.Cys23Tyr) | gnomAD v4 |
8 | g.37965887A= | CA1777329135 | ADRB3 | c.583T= (p.Cys195=) n.711T= c.67T= (p.Cys23=) | |
8 | g.37965887A>C | CA370694759 | ADRB3 | c.583T>G (p.Cys195Gly) n.711T>G c.67T>G (p.Cys23Gly) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.37965887A>G | CA370694766 | ADRB3 | c.583T>C (p.Cys195Arg) n.711T>C c.67T>C (p.Cys23Arg) | |
8 | g.37965887A>T | CA370694756 | ADRB3 | c.583T>A (p.Cys195Ser) n.711T>A c.67T>A (p.Cys23Ser) | |
8 | g.37965887dup | CA2968110092 | ADRB3 | c.583dup (p.Cys195LeufsTer?) n.711dup c.67dup (p.Cys23LeufsTer?) | |
8 | g.37965888G>A | CA460495098 | ADRB3 | c.582C>T (p.Arg194=) n.710C>T c.66C>T (p.Arg22=) | gnomAD v4 |
8 | g.37965888G>C | CA460495097 | ADRB3 | c.582C>G (p.Arg194=) n.710C>G c.66C>G (p.Arg22=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.37965888G= | CA1777329136 | ADRB3 | c.582C= (p.Arg194=) n.710C= c.66C= (p.Arg22=) | |
8 | g.37965888G>T | CA460495096 | ADRB3 | c.582C>A (p.Arg194=) n.710C>A c.66C>A (p.Arg22=) | |
8 | g.37965889C>A | CA370694769 | ADRB3 | c.581G>T (p.Arg194Leu) n.709G>T c.65G>T (p.Arg22Leu) | gnomAD v4 |
8 | g.37965889C= | CA1777329137 | ADRB3 | c.581G= (p.Arg194=) n.709G= c.65G= (p.Arg22=) | |
8 | g.37965889C>G | CA4714376 | ADRB3 | c.581G>C (p.Arg194Pro) n.709G>C c.65G>C (p.Arg22Pro) | dbSNP ExAC gnomAD v2 |
8 | g.37965889C>T | CA175071733 | ADRB3 | c.581G>A (p.Arg194His) n.709G>A c.65G>A (p.Arg22His) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.37965890G>A | CA370694771 | ADRB3 | c.580C>T (p.Arg194Cys) n.708C>T c.64C>T (p.Arg22Cys) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.37965890G>C | CA370694773 | ADRB3 | c.580C>G (p.Arg194Gly) n.708C>G c.64C>G (p.Arg22Gly) | |
8 | g.37965890G= | CA1777329138 | ADRB3 | c.580C= (p.Arg194=) n.708C= c.64C= (p.Arg22=) | |
8 | g.37965890G>T | CA370694775 | ADRB3 | c.580C>A (p.Arg194Ser) n.708C>A c.64C>A (p.Arg22Ser) | |
8 | g.37965891C>A | CA460495099 | ADRB3 | c.579G>T (p.Pro193=) n.707G>T c.63G>T (p.Pro21=) | gnomAD v4 |
8 | g.37965891C= | CA1777329139 | ADRB3 | c.579G= (p.Pro193=) n.707G= c.63G= (p.Pro21=) | |
8 | g.37965891C>G | CA460495100 | ADRB3 | c.579G>C (p.Pro193=) n.707G>C c.63G>C (p.Pro21=) | |
8 | g.37965891C>T | CA460495101 | ADRB3 | c.579G>A (p.Pro193=) n.707G>A c.63G>A (p.Pro21=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.37965892G>A | CA4714377 | ADRB3 | c.578C>T (p.Pro193Leu) n.706C>T c.62C>T (p.Pro21Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.37965892G>C | CA370694778 | ADRB3 | c.578C>G (p.Pro193Arg) n.706C>G c.62C>G (p.Pro21Arg) | ClinVar dbSNP gnomAD v4 |
8 | g.37965892G= | CA1777329140 | ADRB3 | c.578C= (p.Pro193=) n.706C= c.62C= (p.Pro21=) |