Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.38071195C>A | CA346327735 | CYP1B1 | c.1159G>T (p.Glu387Ter) n.537G>T c.46G>T (p.Glu16Ter) n.554G>T | |
2 | g.38071195C= | CA1245626169 | CYP1B1 | c.1159G= (p.Glu387=) n.537G= c.46G= (p.Glu16=) n.554G= | |
2 | g.38071195C>G | CA45506580 | CYP1B1 | c.1159G>C (p.Glu387Gln) n.537G>C c.46G>C (p.Glu16Gln) n.554G>C | dbSNP |
2 | g.38071195C>T | CA254241 | CYP1B1 | c.1159G>A (p.Glu387Lys) n.537G>A c.46G>A (p.Glu16Lys) n.554G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38071196A>C | CA346327736 | CYP1B1 | c.1158T>G (p.Tyr386Ter) n.536T>G c.45T>G (p.Tyr15Ter) n.553T>G | |
2 | g.38071196A>G | CA425690753 | CYP1B1 | c.1158T>C (p.Tyr386=) n.536T>C c.45T>C (p.Tyr15=) n.553T>C | |
2 | g.38071196A>T | CA346327737 | CYP1B1 | c.1158T>A (p.Tyr386Ter) n.536T>A c.45T>A (p.Tyr15Ter) n.553T>A | |
2 | g.38071197T>A | CA346327738 | CYP1B1 | c.1157A>T (p.Tyr386Phe) n.535A>T c.44A>T (p.Tyr15Phe) n.552A>T | |
2 | g.38071197T>C | CA346327739 | CYP1B1 | c.1157A>G (p.Tyr386Cys) n.535A>G c.44A>G (p.Tyr15Cys) n.552A>G | gnomAD v4 |
2 | g.38071197T>G | CA346327740 | CYP1B1 | c.1157A>C (p.Tyr386Ser) n.535A>C c.44A>C (p.Tyr15Ser) n.552A>C | |
2 | g.38071198A>C | CA346327742 | CYP1B1 | c.1156T>G (p.Tyr386Asp) n.534T>G c.43T>G (p.Tyr15Asp) n.551T>G | |
2 | g.38071198A>G | CA346327743 | CYP1B1 | c.1156T>C (p.Tyr386His) n.534T>C c.43T>C (p.Tyr15His) n.551T>C | |
2 | g.38071198A>T | CA346327741 | CYP1B1 | c.1156T>A (p.Tyr386Asn) n.534T>A c.43T>A (p.Tyr15Asn) n.551T>A | |
2 | g.38071199A>C | CA425690756 | CYP1B1 | c.1155T>G (p.Leu385=) n.533T>G c.42T>G (p.Leu14=) n.550T>G | |
2 | g.38071199A>G | CA425690754 | CYP1B1 | c.1155T>C (p.Leu385=) n.533T>C c.42T>C (p.Leu14=) n.550T>C | gnomAD v4 |
2 | g.38071199A>T | CA425690755 | CYP1B1 | c.1155T>A (p.Leu385=) n.533T>A c.42T>A (p.Leu14=) n.550T>A | |
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 | 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 | 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 | |
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 |