Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.38076192_38076198delCA1245628767CYP1B1c.-70-4886_-70-4880del (n.-70-4886_-70-4880del)
c.806_812del (p.Val269GlufsTer23)
dbSNP
2g.38076195_38076197delCA532236974CYP1B1c.-70-4885_-70-4883del (n.-70-4885_-70-4883del)
c.809_811del (p.Glu270del)
dbSNP gnomAD v2
2g.38076197G>ACA2658668199CYP1B1c.-70-4887C>T (n.-70-4887C>T)
c.811G>A (p.Gly271Arg)
gnomAD v4
2g.38076198G>ACA1029495296CYP1B1c.-70-4888C>T (n.-70-4888C>T)
c.812G>A (p.Gly271Glu)
dbSNP gnomAD v3 gnomAD v4
2g.38076198G=CA1245628772CYP1B1c.-70-4888C= (n.-70-4888C=)
c.812G= (p.Gly271=)
2g.38076198G>TCA1245628771CYP1B1c.-70-4888C>A (n.-70-4888C>A)
c.812G>T (p.Gly271Val)
dbSNP gnomAD v4
2g.38076199A=CA1245628774CYP1B1c.-70-4889T= (n.-70-4889T=)
c.813A= (p.Gly271=)
2g.38076199A>CCA1029495297CYP1B1c.-70-4889T>G (n.-70-4889T>G)
c.813A>C (p.Gly271=)
dbSNP gnomAD v3 gnomAD v4
2g.38076199A>TCA1245628773CYP1B1c.-70-4889T>A (n.-70-4889T>A)
c.813A>T (p.Gly271=)
dbSNP
2g.38076200G>ACA45513075CYP1B1c.-70-4890C>T (n.-70-4890C>T)
c.814G>A (p.Gly272Arg)
dbSNP gnomAD v4
2g.38076200G=CA1245628775CYP1B1c.-70-4890C= (n.-70-4890C=)
c.814G= (p.Gly272=)
2g.38076201G>ACA1029495298CYP1B1c.-70-4891C>T (n.-70-4891C>T)
c.815G>A (p.Gly272Glu)
dbSNP gnomAD v3 gnomAD v4
2g.38076201G=CA1245628776CYP1B1c.-70-4891C= (n.-70-4891C=)
c.815G= (p.Gly272=)
2g.38076201G>TCA2658668200CYP1B1c.-70-4891C>A (n.-70-4891C>A)
c.815G>T (p.Gly272Val)
gnomAD v4
2g.38076202G>ACA2658668201CYP1B1c.-70-4892C>T (n.-70-4892C>T)
c.816G>A (p.Gly272=)
gnomAD v4
2g.38076203C>GCA2749546795CYP1B1c.-70-4893G>C (n.-70-4893G>C)
c.817C>G (p.Gln273Glu)
2g.38076203C>TCA2658668202CYP1B1c.-70-4893G>A (n.-70-4893G>A)
c.817C>T (p.Gln273Ter)
gnomAD v4
2g.38076204A>GCA2658668203CYP1B1c.-70-4894T>C (n.-70-4894T>C)
c.818A>G (p.Gln273Arg)
gnomAD v4
2g.38076205G>ACA2658668204CYP1B1c.-70-4895C>T (n.-70-4895C>T)
c.819G>A (p.Gln273=)
gnomAD v4
2g.38076206C>ACA45513083CYP1B1c.-70-4896G>T (n.-70-4896G>T)
c.820C>A (p.Arg274Ser)
dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.38076206C=CA1245628777CYP1B1c.-70-4896G= (n.-70-4896G=)
c.820C= (p.Arg274=)
2g.38076206C>TCA45513084CYP1B1c.-70-4896G>A (n.-70-4896G>A)
c.820C>T (p.Arg274Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.38076207G>ACA2658668205CYP1B1c.-70-4897C>T (n.-70-4897C>T)
c.821G>A (p.Arg274His)
gnomAD v4
2g.38076207G>CCA1245628779CYP1B1c.-70-4897C>G (n.-70-4897C>G)
c.821G>C (p.Arg274Pro)
dbSNP
2g.38076207G=CA1245628778CYP1B1c.-70-4897C= (n.-70-4897C=)
c.821G= (p.Arg274=)
2g.38076207G>TCA2658668206CYP1B1c.-70-4897C>A (n.-70-4897C>A)
c.821G>T (p.Arg274Leu)
gnomAD v4
2g.38076208C>ACA1245628781CYP1B1c.-70-4898G>T (n.-70-4898G>T)
c.822C>A (p.Arg274=)
dbSNP
2g.38076208C=CA1245628780CYP1B1c.-70-4898G= (n.-70-4898G=)
c.822C= (p.Arg274=)
2g.38076208C>GCA45513085CYP1B1c.-70-4898G>C (n.-70-4898G>C)
c.822C>G (p.Arg274=)
dbSNP gnomAD v3 gnomAD v4
2g.38076209G>ACA45513088CYP1B1c.-70-4899C>T (n.-70-4899C>T)
c.823G>A (p.Asp275Asn)
dbSNP gnomAD v3 gnomAD v4
2g.38076209G=CA1245628782CYP1B1c.-70-4899C= (n.-70-4899C=)
c.823G= (p.Asp275=)
2g.38076209G>TCA45513091CYP1B1c.-70-4899C>A (n.-70-4899C>A)
c.823G>T (p.Asp275Tyr)
dbSNP gnomAD v4
2g.38076210_38076223delinsACCTGGCAGGGCGGCA1245628783CYP1B1c.-70-4913_-70-4900delinsCCGCCCTGCCAGGT (n.-70-4913_-70-4900delinsCCGCCCTGCCAGGT)
c.824_837delinsACCTGGCAGGGCGG (p.Asp275=)
2g.38076211C>TCA2658668208CYP1B1c.-70-4901G>A (n.-70-4901G>A)
c.825C>T (p.Asp275=)
gnomAD v4
2g.38076212delCA2658668207CYP1B1c.-70-4901del (n.-70-4901del)
c.826del (p.Leu276TrpfsTer18)
gnomAD v4
2g.38076211_38076223delCA45513096CYP1B1c.-70-4913_-70-4901del (n.-70-4913_-70-4901del)
c.825_837del (p.Asp275GlufsTer15)
dbSNP gnomAD v3 gnomAD v4
2g.38076212C>TCA2749546796CYP1B1c.-70-4902G>A (n.-70-4902G>A)
c.826C>T (p.Leu276=)
2g.38076213T>CCA768426955CYP1B1c.-70-4903A>G (n.-70-4903A>G)
c.827T>C (p.Leu276Pro)
dbSNP gnomAD v3 gnomAD v4
2g.38076213T=CA1245628784CYP1B1c.-70-4903A= (n.-70-4903A=)
c.827T= (p.Leu276=)
2g.38076214G>ACA2658668209CYP1B1c.-70-4904C>T (n.-70-4904C>T)
c.828G>A (p.Leu276=)
gnomAD v4
2g.38076214G>TCA2658668210CYP1B1c.-70-4904C>A (n.-70-4904C>A)
c.828G>T (p.Leu276=)
gnomAD v4
2g.38076215G>ACA2658668211CYP1B1c.-70-4905C>T (n.-70-4905C>T)
c.829G>A (p.Ala277Thr)
gnomAD v4
2g.38076215G>TCA2658668212CYP1B1c.-70-4905C>A (n.-70-4905C>A)
c.829G>T (p.Ala277Ser)
gnomAD v4
2g.38076216C>ACA1245628786CYP1B1c.-70-4906G>T (n.-70-4906G>T)
c.830C>A (p.Ala277Glu)
dbSNP
2g.38076216C=CA1245628785CYP1B1c.-70-4906G= (n.-70-4906G=)
c.830C= (p.Ala277=)
2g.38076216C>TCA2658668213CYP1B1c.-70-4906G>A (n.-70-4906G>A)
c.830C>T (p.Ala277Val)
gnomAD v4
2g.38076217A>GCA2658668214CYP1B1c.-70-4907T>C (n.-70-4907T>C)
c.831A>G (p.Ala277=)
gnomAD v4
2g.38076218G>ACA2658668216CYP1B1c.-70-4908C>T (n.-70-4908C>T)
c.832G>A (p.Gly278Arg)
gnomAD v4
2g.38076218G>CCA45513102CYP1B1c.-70-4908C>G (n.-70-4908C>G)
c.832G>C (p.Gly278Arg)
dbSNP gnomAD v3 gnomAD v4
2g.38076218G=CA1245628787CYP1B1c.-70-4908C= (n.-70-4908C=)
c.832G= (p.Gly278=)

Number of alleles fetched