Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.37965876G>A | CA175071712 | ADRB3 | c.594C>T (p.Phe198=) n.722C>T c.78C>T (p.Phe26=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.37965876G>C | CA370694690 | ADRB3 | c.594C>G (p.Phe198Leu) n.722C>G c.78C>G (p.Phe26Leu) | |
8 | g.37965876G= | CA1777329131 | ADRB3 | c.594C= (p.Phe198=) n.722C= c.78C= (p.Phe26=) | |
8 | g.37965876G>T | CA370694691 | ADRB3 | c.594C>A (p.Phe198Leu) n.722C>A c.78C>A (p.Phe26Leu) | gnomAD v4 |
8 | g.37965877A>C | CA370694696 | ADRB3 | c.593T>G (p.Phe198Cys) n.721T>G c.77T>G (p.Phe26Cys) | |
8 | g.37965877A>G | CA370694698 | ADRB3 | c.593T>C (p.Phe198Ser) n.721T>C c.77T>C (p.Phe26Ser) | |
8 | g.37965877A>T | CA370694700 | ADRB3 | c.593T>A (p.Phe198Tyr) n.721T>A c.77T>A (p.Phe26Tyr) | |
8 | g.37965878A>C | CA370694705 | ADRB3 | c.592T>G (p.Phe198Val) n.720T>G c.76T>G (p.Phe26Val) | gnomAD v4 |
8 | g.37965878A>G | CA370694704 | ADRB3 | c.592T>C (p.Phe198Leu) n.720T>C c.76T>C (p.Phe26Leu) | |
8 | g.37965878A>T | CA370694703 | ADRB3 | c.592T>A (p.Phe198Ile) n.720T>A c.76T>A (p.Phe26Ile) | |
8 | g.37965879G>A | CA460495082 | ADRB3 | c.591C>T (p.Ala197=) n.719C>T c.75C>T (p.Ala25=) | gnomAD v4 |
8 | g.37965879G>C | CA460495083 | ADRB3 | c.591C>G (p.Ala197=) n.719C>G c.75C>G (p.Ala25=) | |
8 | g.37965879G>T | CA460495084 | ADRB3 | c.591C>A (p.Ala197=) n.719C>A c.75C>A (p.Ala25=) | gnomAD v4 |
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.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.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 |