Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.38076189_38076196delinsGGGTAGAACA1245628765CYP1B1c.-70-4886_-70-4879delinsTTCTACCC (n.-70-4886_-70-4879delinsTTCTACCC)
c.803_810delinsGGGTAGAA (p.Trp268=)
2g.38076192_38076198delCA1245628767CYP1B1c.-70-4886_-70-4880del (n.-70-4886_-70-4880del)
c.806_812del (p.Val269GlufsTer23)
 dbSNP
2g.38076192T>ACA2658668195CYP1B1c.-175A>T (n.-175A>T)
c.-70-4882A>T (n.-70-4882A>T)
c.806T>A (p.Val269Glu)
 gnomAD v4
2g.38076192T>GCA45513071CYP1B1c.-175A>C (n.-175A>C)
c.-70-4882A>C (n.-70-4882A>C)
c.806T>G (p.Val269Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.38076192T=CA1245628768CYP1B1c.-175A= (n.-175A=)
c.-70-4882A= (n.-70-4882A=)
c.806T= (p.Val269=)
2g.38076192_38076195delinsTAGACA1245628769CYP1B1c.-70-4885_-70-4882delinsTCTA (n.-70-4885_-70-4882delinsTCTA)
c.806_809delinsTAGA (p.Val269=)
2g.38076193A=CA1245628770CYP1B1c.-176T= (n.-176T=)
c.-70-4883T= (n.-70-4883T=)
c.807A= (p.Val269=)
2g.38076193A>CCA2658668196CYP1B1c.-176T>G (n.-176T>G)
c.-70-4883T>G (n.-70-4883T>G)
c.807A>C (p.Val269=)
 gnomAD v4
2g.38076193A>GCA768426950CYP1B1c.-176T>C (n.-176T>C)
c.-70-4883T>C (n.-70-4883T>C)
c.807A>G (p.Val269=)
 dbSNP gnomAD v3 gnomAD v4
2g.38076195_38076197delCA532236974CYP1B1c.-70-4885_-70-4883del (n.-70-4885_-70-4883del)
c.809_811del (p.Glu270del)
 dbSNP gnomAD v2
2g.38076194G>TCA2658668197CYP1B1c.-70-4884C>A (n.-70-4884C>A)
c.808G>T (p.Glu270Ter)
 gnomAD v4
2g.38076196A>TCA2658668198CYP1B1c.-70-4886T>A (n.-70-4886T>A)
c.810A>T (p.Glu270Asp)
 gnomAD v4
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

Number of alleles fetched