Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.38076384_38076610delCA2749546859CYP1B1c.-70-5292_-70-5066del (n.-70-5292_-70-5066del)
c.998_1174+50del
2g.38076399_38076407delCA2749546885CYP1B1c.-70-5096_-70-5088del (n.-70-5096_-70-5088del)
c.1013_1021del (p.Arg338_Pro340del)
2g.38076402_38076422delCA2749546886CYP1B1c.-70-5108_-70-5088del (n.-70-5108_-70-5088del)
c.1016_1036del (p.Cys339_Arg345del)
2g.38076400_38076407delCA2749546887CYP1B1c.-70-5097_-70-5090del (n.-70-5097_-70-5090del)
c.1014_1021del (p.Cys339GlufsTer?)
2g.38076407delCA2658668429CYP1B1c.-70-5094del (n.-70-5094del)
c.1021del (p.Gln341ArgfsTer?)
 gnomAD v4
2g.38076405_38076407delCA2749546896CYP1B1c.-70-5096_-70-5094del (n.-70-5096_-70-5094del)
c.1019_1021del (p.Pro340del)
2g.38076407C>ACA2658668434CYP1B1c.-70-5097G>T (n.-70-5097G>T)
c.1021C>A (p.Gln341Lys)
 gnomAD v4
2g.38076407C>TCA2658668435CYP1B1c.-70-5097G>A (n.-70-5097G>A)
c.1021C>T (p.Gln341Ter)
 gnomAD v4
2g.38076409G>CCA2749546898CYP1B1c.-70-5099C>G (n.-70-5099C>G)
c.1023G>C (p.Gln341His)
2g.38076409G>TCA2658668436CYP1B1c.-70-5099C>A (n.-70-5099C>A)
c.1023G>T (p.Gln341His)
 gnomAD v4
2g.38076409_38076413delCA2749546899CYP1B1c.-70-5103_-70-5099del (n.-70-5103_-70-5099del)
c.1023_1027del (p.Asn342ArgfsTer?)
2g.38076410A=CA1245628903CYP1B1c.-70-5100T= (n.-70-5100T=)
c.1024A= (p.Asn342=)
2g.38076410A>CCA768427088CYP1B1c.-70-5100T>G (n.-70-5100T>G)
c.1024A>C (p.Asn342His)
 dbSNP gnomAD v3 gnomAD v4
2g.38076410A>TCA2749546900CYP1B1c.-70-5100T>A (n.-70-5100T>A)
c.1024A>T (p.Asn342Tyr)
2g.38076411A>CCA2658668438CYP1B1c.-70-5101T>G (n.-70-5101T>G)
c.1025A>C (p.Asn342Thr)
 gnomAD v4
2g.38076411A>GCA2658668437CYP1B1c.-70-5101T>C (n.-70-5101T>C)
c.1025A>G (p.Asn342Ser)
 gnomAD v4
2g.38076412C>ACA2658668439CYP1B1c.-70-5102G>T (n.-70-5102G>T)
c.1026C>A (p.Asn342Lys)
 gnomAD v4
2g.38076412C=CA1245628904CYP1B1c.-70-5102G= (n.-70-5102G=)
c.1026C= (p.Asn342=)
2g.38076412C>GCA768427095CYP1B1c.-70-5102G>C (n.-70-5102G>C)
c.1026C>G (p.Asn342Lys)
 dbSNP gnomAD v3 gnomAD v4
2g.38076413C>ACA2658668441CYP1B1c.-70-5103G>T (n.-70-5103G>T)
c.1027C>A (p.His343Asn)
 gnomAD v4
2g.38076413C>TCA2658668440CYP1B1c.-70-5103G>A (n.-70-5103G>A)
c.1027C>T (p.His343Tyr)
 gnomAD v4
2g.38076414A>CCA2658668442CYP1B1c.-70-5104T>G (n.-70-5104T>G)
c.1028A>C (p.His343Pro)
 gnomAD v4
2g.38076414_38076415insGAGCA2749546901CYP1B1c.-70-5105_-70-5104insCTC (n.-70-5105_-70-5104insCTC)
c.1028_1029insGAG (p.His343delinsGlnSer)
2g.38076415C>ACA2658668443CYP1B1c.-70-5105G>T (n.-70-5105G>T)
c.1029C>A (p.His343Gln)
 gnomAD v4
2g.38076415C>TCA2658668444CYP1B1c.-70-5105G>A (n.-70-5105G>A)
c.1029C>T (p.His343=)
 gnomAD v4
2g.38076415_38076416insAGACA2749546903CYP1B1c.-70-5106_-70-5105insTCT (n.-70-5106_-70-5105insTCT)
c.1029_1030insAGA (p.His343_Ala344insArg)
2g.38076416G>ACA2658668445CYP1B1c.-70-5106C>T (n.-70-5106C>T)
c.1030G>A (p.Ala344Thr)
 gnomAD v4
2g.38076416G>CCA2658668446CYP1B1c.-70-5106C>G (n.-70-5106C>G)
c.1030G>C (p.Ala344Pro)
 gnomAD v4
2g.38076416G=CA1245628905CYP1B1c.-70-5106C= (n.-70-5106C=)
c.1030G= (p.Ala344=)
2g.38076416G>TCA768427104CYP1B1c.-70-5106C>A (n.-70-5106C>A)
c.1030G>T (p.Ala344Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.38076416_38076422delCA2749546902CYP1B1c.-70-5112_-70-5106del (n.-70-5112_-70-5106del)
c.1030_1036del (p.Ala344ThrfsTer?)
2g.38076416_38076417insACA2749546904CYP1B1c.-70-5107_-70-5106insT (n.-70-5107_-70-5106insT)
c.1030_1031insA (p.Ala344AspfsTer?)
2g.38076417C>ACA2658668447CYP1B1c.-70-5107G>T (n.-70-5107G>T)
c.1031C>A (p.Ala344Asp)
 gnomAD v4
2g.38076417C=CA1245628906CYP1B1c.-70-5107G= (n.-70-5107G=)
c.1031C= (p.Ala344=)
2g.38076417C>GCA1029495334CYP1B1c.-70-5107G>C (n.-70-5107G>C)
c.1031C>G (p.Ala344Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.38076417C>TCA2658668448CYP1B1c.-70-5107G>A (n.-70-5107G>A)
c.1031C>T (p.Ala344Val)
 gnomAD v4
2g.38076417_38076418insACA2749546905CYP1B1c.-70-5108_-70-5107insT (n.-70-5108_-70-5107insT)
c.1031_1032insA (p.Arg345SerfsTer?)
2g.38076418T>ACA1245628908CYP1B1c.-70-5108A>T (n.-70-5108A>T)
c.1032T>A (p.Ala344=)
 dbSNP gnomAD v4
2g.38076418T>CCA2658668449CYP1B1c.-70-5108A>G (n.-70-5108A>G)
c.1032T>C (p.Ala344=)
 gnomAD v4
2g.38076418T=CA1245628907CYP1B1c.-70-5108A= (n.-70-5108A=)
c.1032T= (p.Ala344=)
2g.38076419C>ACA2658668450CYP1B1c.-70-5109G>T (n.-70-5109G>T)
c.1033C>A (p.Arg345=)
 gnomAD v4
2g.38076419C=CA1245628909CYP1B1c.-70-5109G= (n.-70-5109G=)
c.1033C= (p.Arg345=)
2g.38076419C>GCA531942544CYP1B1c.-70-5109G>C (n.-70-5109G>C)
c.1033C>G (p.Arg345Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.38076419C>TCA2658668451CYP1B1c.-70-5109G>A (n.-70-5109G>A)
c.1033C>T (p.Arg345Trp)
 gnomAD v4
2g.38076419_38076425delCA2749546906CYP1B1c.-70-5115_-70-5109del (n.-70-5115_-70-5109del)
c.1033_1039del (p.Arg345ThrfsTer?)
2g.38076420G>ACA1245628911CYP1B1c.-70-5110C>T (n.-70-5110C>T)
c.1034G>A (p.Arg345Gln)
 dbSNP gnomAD v4
2g.38076420G>CCA768427106CYP1B1c.-70-5110C>G (n.-70-5110C>G)
c.1034G>C (p.Arg345Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.38076420G=CA1245628910CYP1B1c.-70-5110C= (n.-70-5110C=)
c.1034G= (p.Arg345=)
2g.38076420G>TCA1245628912CYP1B1c.-70-5110C>A (n.-70-5110C>A)
c.1034G>T (p.Arg345Leu)
 dbSNP gnomAD v4
2g.38076421G>ACA45513237CYP1B1c.-70-5111C>T (n.-70-5111C>T)
c.1035G>A (p.Arg345=)
 dbSNP gnomAD v4

Number of alleles fetched