Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.38071200A>C | CA346327746 | CYP1B1 | c.1154T>G (p.Leu385Arg) n.532T>G c.41T>G (p.Leu14Arg) n.549T>G | |
2 | g.38071200A>G | CA346327744 | CYP1B1 | c.1154T>C (p.Leu385Pro) n.532T>C c.41T>C (p.Leu14Pro) n.549T>C | |
2 | g.38071200A>T | CA346327745 | CYP1B1 | c.1154T>A (p.Leu385His) n.532T>A c.41T>A (p.Leu14His) n.549T>A | |
2 | g.38071201G>A | CA45506612 | CYP1B1 | c.1153C>T (p.Leu385Phe) n.531C>T c.40C>T (p.Leu14Phe) n.548C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38071201G>C | CA346327747 | CYP1B1 | c.1153C>G (p.Leu385Val) n.531C>G c.40C>G (p.Leu14Val) n.548C>G | |
2 | g.38071201G= | CA1245626170 | CYP1B1 | c.1153C= (p.Leu385=) n.531C= c.40C= (p.Leu14=) n.548C= | |
2 | g.38071201G>T | CA346327748 | CYP1B1 | c.1153C>A (p.Leu385Ile) n.531C>A c.40C>A (p.Leu14Ile) n.548C>A | |
2 | g.38071202G>A | CA425690757 | CYP1B1 | c.1152C>T (p.Phe384=) n.530C>T c.39C>T (p.Phe13=) n.547C>T | |
2 | g.38071202G>C | CA346327749 | CYP1B1 | c.1152C>G (p.Phe384Leu) n.530C>G c.39C>G (p.Phe13Leu) n.547C>G | |
2 | g.38071202G>T | CA346327750 | CYP1B1 | c.1152C>A (p.Phe384Leu) n.530C>A c.39C>A (p.Phe13Leu) n.547C>A | |
2 | g.38071203A>C | CA346327751 | CYP1B1 | c.1151T>G (p.Phe384Cys) n.529T>G c.38T>G (p.Phe13Cys) n.546T>G | |
2 | g.38071203A>G | CA346327752 | CYP1B1 | c.1151T>C (p.Phe384Ser) n.529T>C c.38T>C (p.Phe13Ser) n.546T>C | |
2 | g.38071203A>T | CA346327753 | CYP1B1 | c.1151T>A (p.Phe384Tyr) n.529T>A c.38T>A (p.Phe13Tyr) n.546T>A | gnomAD v4 |
2 | g.38071204A= | CA1245626171 | CYP1B1 | c.1150T= (p.Phe384=) n.528T= c.37T= (p.Phe13=) n.545T= | |
2 | g.38071204A>C | CA1619849 | CYP1B1 | c.1150T>G (p.Phe384Val) n.528T>G c.37T>G (p.Phe13Val) n.545T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38071204A>G | CA346327754 | CYP1B1 | c.1150T>C (p.Phe384Leu) n.528T>C c.37T>C (p.Phe13Leu) n.545T>C | |
2 | g.38071204A>T | CA346327755 | CYP1B1 | c.1150T>A (p.Phe384Ile) n.528T>A c.37T>A (p.Phe13Ile) n.545T>A | |
2 | g.38071205G>A | CA425690758 | CYP1B1 | c.1149C>T (p.Ala383=) n.527C>T c.36C>T (p.Ala12=) n.544C>T | ClinVar dbSNP |
2 | g.38071205G>C | CA425690759 | CYP1B1 | c.1149C>G (p.Ala383=) n.527C>G c.36C>G (p.Ala12=) n.544C>G | gnomAD v4 |
2 | g.38071205G= | CA1245626172 | CYP1B1 | c.1149C= (p.Ala383=) n.527C= c.36C= (p.Ala12=) n.544C= | |
2 | g.38071205G>T | CA425690760 | CYP1B1 | c.1149C>A (p.Ala383=) n.527C>A c.36C>A (p.Ala12=) n.544C>A | ClinVar |
2 | g.38071206G>A | CA346327758 | CYP1B1 | c.1148C>T (p.Ala383Val) n.526C>T c.35C>T (p.Ala12Val) n.543C>T | gnomAD v4 |
2 | g.38071206G>C | CA346327757 | CYP1B1 | c.1148C>G (p.Ala383Gly) n.526C>G c.35C>G (p.Ala12Gly) n.543C>G | |
2 | g.38071206G= | CA1245626173 | CYP1B1 | c.1148C= (p.Ala383=) n.526C= c.35C= (p.Ala12=) n.543C= | |
2 | g.38071206G>T | CA346327756 | CYP1B1 | c.1148C>A (p.Ala383Asp) n.526C>A c.35C>A (p.Ala12Asp) n.543C>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.38071207C>A | CA346327759 | CYP1B1 | c.1147G>T (p.Ala383Ser) n.525G>T c.34G>T (p.Ala12Ser) n.542G>T | |
2 | g.38071207C>G | CA346327760 | CYP1B1 | c.1147G>C (p.Ala383Pro) n.525G>C c.34G>C (p.Ala12Pro) n.542G>C | |
2 | g.38071207C>T | CA346327761 | CYP1B1 | c.1147G>A (p.Ala383Thr) n.525G>A c.34G>A (p.Ala12Thr) n.542G>A | gnomAD v4 |
2 | g.38071208C>A | CA425690761 | CYP1B1 | c.1146G>T (p.Leu382=) n.524G>T c.33G>T (p.Leu11=) n.541G>T | |
2 | g.38071208C>G | CA425690762 | CYP1B1 | c.1146G>C (p.Leu382=) n.524G>C c.33G>C (p.Leu11=) n.541G>C | gnomAD v4 |
2 | g.38071208C>T | CA425690763 | CYP1B1 | c.1146G>A (p.Leu382=) n.524G>A c.33G>A (p.Leu11=) n.541G>A | |
2 | g.38071209A>C | CA346327762 | CYP1B1 | c.1145T>G (p.Leu382Arg) n.523T>G c.32T>G (p.Leu11Arg) n.540T>G | |
2 | g.38071209A>G | CA346327763 | CYP1B1 | c.1145T>C (p.Leu382Pro) n.523T>C c.32T>C (p.Leu11Pro) n.540T>C | |
2 | g.38071209A>T | CA346327764 | CYP1B1 | c.1145T>A (p.Leu382Gln) n.523T>A c.32T>A (p.Leu11Gln) n.540T>A | |
2 | g.38071210G>A | CA425690764 | CYP1B1 | c.1144C>T (p.Leu382=) n.522C>T c.31C>T (p.Leu11=) n.539C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.38071210G>C | CA346327765 | CYP1B1 | c.1144C>G (p.Leu382Val) n.522C>G c.31C>G (p.Leu11Val) n.539C>G | |
2 | g.38071210G= | CA1245626174 | CYP1B1 | c.1144C= (p.Leu382=) n.522C= c.31C= (p.Leu11=) n.539C= | |
2 | g.38071210G>T | CA346327766 | CYP1B1 | c.1144C>A (p.Leu382Met) n.522C>A c.31C>A (p.Leu11Met) n.539C>A | |
2 | g.38071211G>A | CA425690765 | CYP1B1 | c.1143C>T (p.Val381=) n.521C>T c.30C>T (p.Val10=) n.538C>T | ClinVar gnomAD v4 |
2 | g.38071211G>C | CA425690766 | CYP1B1 | c.1143C>G (p.Val381=) n.521C>G c.30C>G (p.Val10=) n.538C>G | |
2 | g.38071211G>T | CA425690767 | CYP1B1 | c.1143C>A (p.Val381=) n.521C>A c.30C>A (p.Val10=) n.538C>A | |
2 | g.38071212A>C | CA346327767 | CYP1B1 | c.1142T>G (p.Val381Gly) n.520T>G c.29T>G (p.Val10Gly) n.537T>G | |
2 | g.38071212A>G | CA346327768 | CYP1B1 | c.1142T>C (p.Val381Ala) n.520T>C c.29T>C (p.Val10Ala) n.537T>C | |
2 | g.38071212A>T | CA346327769 | CYP1B1 | c.1142T>A (p.Val381Asp) n.520T>A c.29T>A (p.Val10Asp) n.537T>A | |
2 | g.38071213C>A | CA346327770 | CYP1B1 | c.1141G>T (p.Val381Phe) n.519G>T c.28G>T (p.Val10Phe) n.536G>T | |
2 | g.38071213C= | CA1245626175 | CYP1B1 | c.1141G= (p.Val381=) n.519G= c.28G= (p.Val10=) n.536G= | |
2 | g.38071213C>G | CA346327771 | CYP1B1 | c.1141G>C (p.Val381Leu) n.519G>C c.28G>C (p.Val10Leu) n.536G>C | |
2 | g.38071213C>T | CA346327772 | CYP1B1 | c.1141G>A (p.Val381Ile) n.519G>A c.28G>A (p.Val10Ile) n.536G>A | |
2 | g.38071214A= | CA1245626176 | CYP1B1 | c.1140T= (p.Tyr380=) n.518T= c.27T= (p.Tyr9=) n.535T= | |
2 | g.38071214A>C | CA346327774 | CYP1B1 | c.1140T>G (p.Tyr380Ter) n.518T>G c.27T>G (p.Tyr9Ter) n.535T>G |