Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.38076201G>A | CA1029495298 | CYP1B1 | c.-70-4891C>T (n.-70-4891C>T) c.815G>A (p.Gly272Glu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.38076201G= | CA1245628776 | CYP1B1 | c.-70-4891C= (n.-70-4891C=) c.815G= (p.Gly272=) | |
2 | g.38076201G>T | CA2658668200 | CYP1B1 | c.-70-4891C>A (n.-70-4891C>A) c.815G>T (p.Gly272Val) | gnomAD v4 |
2 | g.38076202G>A | CA2658668201 | CYP1B1 | c.-70-4892C>T (n.-70-4892C>T) c.816G>A (p.Gly272=) | gnomAD v4 |
2 | g.38076203C>G | CA2749546795 | CYP1B1 | c.-70-4893G>C (n.-70-4893G>C) c.817C>G (p.Gln273Glu) | |
2 | g.38076203C>T | CA2658668202 | CYP1B1 | c.-70-4893G>A (n.-70-4893G>A) c.817C>T (p.Gln273Ter) | gnomAD v4 |
2 | g.38076204A>G | CA2658668203 | CYP1B1 | c.-70-4894T>C (n.-70-4894T>C) c.818A>G (p.Gln273Arg) | gnomAD v4 |
2 | g.38076205G>A | CA2658668204 | CYP1B1 | c.-70-4895C>T (n.-70-4895C>T) c.819G>A (p.Gln273=) | gnomAD v4 |
2 | g.38076206C>A | CA45513083 | CYP1B1 | c.-70-4896G>T (n.-70-4896G>T) c.820C>A (p.Arg274Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.38076206C= | CA1245628777 | CYP1B1 | c.-70-4896G= (n.-70-4896G=) c.820C= (p.Arg274=) | |
2 | g.38076206C>T | CA45513084 | CYP1B1 | c.-70-4896G>A (n.-70-4896G>A) c.820C>T (p.Arg274Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38076207G>A | CA2658668205 | CYP1B1 | c.-70-4897C>T (n.-70-4897C>T) c.821G>A (p.Arg274His) | gnomAD v4 |
2 | g.38076207G>C | CA1245628779 | CYP1B1 | c.-70-4897C>G (n.-70-4897C>G) c.821G>C (p.Arg274Pro) | dbSNP |
2 | g.38076207G= | CA1245628778 | CYP1B1 | c.-70-4897C= (n.-70-4897C=) c.821G= (p.Arg274=) | |
2 | g.38076207G>T | CA2658668206 | CYP1B1 | c.-70-4897C>A (n.-70-4897C>A) c.821G>T (p.Arg274Leu) | gnomAD v4 |
2 | g.38076208C>A | CA1245628781 | CYP1B1 | c.-70-4898G>T (n.-70-4898G>T) c.822C>A (p.Arg274=) | dbSNP |
2 | g.38076208C= | CA1245628780 | CYP1B1 | c.-70-4898G= (n.-70-4898G=) c.822C= (p.Arg274=) | |
2 | g.38076208C>G | CA45513085 | CYP1B1 | c.-70-4898G>C (n.-70-4898G>C) c.822C>G (p.Arg274=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.38076209G>A | CA45513088 | CYP1B1 | c.-70-4899C>T (n.-70-4899C>T) c.823G>A (p.Asp275Asn) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.38076209G= | CA1245628782 | CYP1B1 | c.-70-4899C= (n.-70-4899C=) c.823G= (p.Asp275=) | |
2 | g.38076209G>T | CA45513091 | CYP1B1 | c.-70-4899C>A (n.-70-4899C>A) c.823G>T (p.Asp275Tyr) | dbSNP gnomAD v4 |
2 | g.38076210_38076223delinsACCTGGCAGGGCGG | CA1245628783 | CYP1B1 | c.-70-4913_-70-4900delinsCCGCCCTGCCAGGT (n.-70-4913_-70-4900delinsCCGCCCTGCCAGGT) c.824_837delinsACCTGGCAGGGCGG (p.Asp275=) | |
2 | g.38076211C>T | CA2658668208 | CYP1B1 | c.-70-4901G>A (n.-70-4901G>A) c.825C>T (p.Asp275=) | gnomAD v4 |
2 | g.38076212del | CA2658668207 | CYP1B1 | c.-70-4901del (n.-70-4901del) c.826del (p.Leu276TrpfsTer18) | gnomAD v4 |
2 | g.38076211_38076223del | CA45513096 | CYP1B1 | c.-70-4913_-70-4901del (n.-70-4913_-70-4901del) c.825_837del (p.Asp275GlufsTer15) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.38076212C>T | CA2749546796 | CYP1B1 | c.-70-4902G>A (n.-70-4902G>A) c.826C>T (p.Leu276=) | |
2 | g.38076213T>C | CA768426955 | CYP1B1 | c.-70-4903A>G (n.-70-4903A>G) c.827T>C (p.Leu276Pro) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.38076213T= | CA1245628784 | CYP1B1 | c.-70-4903A= (n.-70-4903A=) c.827T= (p.Leu276=) | |
2 | g.38076214G>A | CA2658668209 | CYP1B1 | c.-70-4904C>T (n.-70-4904C>T) c.828G>A (p.Leu276=) | gnomAD v4 |
2 | g.38076214G>T | CA2658668210 | CYP1B1 | c.-70-4904C>A (n.-70-4904C>A) c.828G>T (p.Leu276=) | gnomAD v4 |
2 | g.38076215G>A | CA2658668211 | CYP1B1 | c.-70-4905C>T (n.-70-4905C>T) c.829G>A (p.Ala277Thr) | gnomAD v4 |
2 | g.38076215G>T | CA2658668212 | CYP1B1 | c.-70-4905C>A (n.-70-4905C>A) c.829G>T (p.Ala277Ser) | gnomAD v4 |
2 | g.38076216C>A | CA1245628786 | CYP1B1 | c.-70-4906G>T (n.-70-4906G>T) c.830C>A (p.Ala277Glu) | dbSNP |
2 | g.38076216C= | CA1245628785 | CYP1B1 | c.-70-4906G= (n.-70-4906G=) c.830C= (p.Ala277=) | |
2 | g.38076216C>T | CA2658668213 | CYP1B1 | c.-70-4906G>A (n.-70-4906G>A) c.830C>T (p.Ala277Val) | gnomAD v4 |
2 | g.38076217A>G | CA2658668214 | CYP1B1 | c.-70-4907T>C (n.-70-4907T>C) c.831A>G (p.Ala277=) | gnomAD v4 |
2 | g.38076218G>A | CA2658668216 | CYP1B1 | c.-70-4908C>T (n.-70-4908C>T) c.832G>A (p.Gly278Arg) | gnomAD v4 |
2 | g.38076218G>C | CA45513102 | CYP1B1 | c.-70-4908C>G (n.-70-4908C>G) c.832G>C (p.Gly278Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.38076218G= | CA1245628787 | CYP1B1 | c.-70-4908C= (n.-70-4908C=) c.832G= (p.Gly278=) | |
2 | g.38076227_38076242del | CA2658668215 | CYP1B1 | c.-70-4923_-70-4908del (n.-70-4923_-70-4908del) c.841_856del (p.Leu281AlafsTer8) | gnomAD v4 |
2 | g.38076219G>A | CA2658668217 | CYP1B1 | c.-70-4909C>T (n.-70-4909C>T) c.833G>A (p.Gly278Glu) | gnomAD v4 |
2 | g.38076219G>C | CA1245628789 | CYP1B1 | c.-70-4909C>G (n.-70-4909C>G) c.833G>C (p.Gly278Ala) | dbSNP |
2 | g.38076219G= | CA1245628788 | CYP1B1 | c.-70-4909C= (n.-70-4909C=) c.833G= (p.Gly278=) | |
2 | g.38076220G>A | CA2658668218 | CYP1B1 | c.-70-4910C>T (n.-70-4910C>T) c.834G>A (p.Gly278=) | gnomAD v4 |
2 | g.38076220G>C | CA532236975 | CYP1B1 | c.-70-4910C>G (n.-70-4910C>G) c.834G>C (p.Gly278=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.38076220G= | CA1245628790 | CYP1B1 | c.-70-4910C= (n.-70-4910C=) c.834G= (p.Gly278=) | |
2 | g.38076220G>T | CA2658668219 | CYP1B1 | c.-70-4910C>A (n.-70-4910C>A) c.834G>T (p.Gly278=) | gnomAD v4 |
2 | g.38076221C>A | CA2658668220 | CYP1B1 | c.-70-4911G>T (n.-70-4911G>T) c.835C>A (p.Arg279=) | gnomAD v4 |
2 | g.38076221C= | CA1245628791 | CYP1B1 | c.-70-4911G= (n.-70-4911G=) c.835C= (p.Arg279=) | |
2 | g.38076221C>T | CA768426959 | CYP1B1 | c.-70-4911G>A (n.-70-4911G>A) c.835C>T (p.Arg279Trp) | dbSNP gnomAD v4 |