Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.38070926_38070952dupCA1619782CYP1B1c.1403_1429dup (p.Ser476_Lys477insArgArgCysIleGlyGluGluLeuSer)
c.290_316dup (p.Ser105_Lys106insArgArgCysIleGlyGluGluLeuSer)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.38070926_38070951delinsAGAAAGTTCTTCGCCAATGCACCGCCCA1245626021CYP1B1c.1403_1428delinsGGCGGTGCATTGGCGAAGAACTTTCT (p.Arg468=)
c.290_315delinsGGCGGTGCATTGGCGAAGAACTTTCT (p.Arg97=)
2g.38070927_38070951delCA45505956CYP1B1c.1403_1427del (p.Arg468IlefsTer28)
c.290_314del (p.Arg97IlefsTer28)
 dbSNP
2g.38070946_38070957delCA2739274323CYP1B1c.1400_1411del (p.Lys467_Cys470del)
c.287_298del (p.Lys96_Cys99del)
 ClinVar
2g.38070949G>ACA254239CYP1B1c.1405C>T (p.Arg469Trp)
c.292C>T (p.Arg98Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.38070949G>CCA346327230CYP1B1c.1405C>G (p.Arg469Gly)
c.292C>G (p.Arg98Gly)
2g.38070949G=CA1245626035CYP1B1c.1405C= (p.Arg469=)
c.292C= (p.Arg98=)
2g.38070949G>TCA425864313CYP1B1c.1405C>A (p.Arg469=)
c.292C>A (p.Arg98=)
 gnomAD v4
2g.38070950C>ACA346327232CYP1B1c.1404G>T (p.Arg468Ser)
c.291G>T (p.Arg97Ser)
2g.38070950C>GCA346327231CYP1B1c.1404G>C (p.Arg468Ser)
c.291G>C (p.Arg97Ser)
2g.38070950C>TCA425864316CYP1B1c.1404G>A (p.Arg468=)
c.291G>A (p.Arg97=)
 dbSNP
2g.38070951C>ACA346327233CYP1B1c.1403G>T (p.Arg468Met)
c.290G>T (p.Arg97Met)
 gnomAD v4
2g.38070951C>GCA346327234CYP1B1c.1403G>C (p.Arg468Thr)
c.290G>C (p.Arg97Thr)
2g.38070951C>TCA346327235CYP1B1c.1403G>A (p.Arg468Lys)
c.290G>A (p.Arg97Lys)
2g.38070952T>ACA346327236CYP1B1c.1402A>T (p.Arg468Trp)
c.289A>T (p.Arg97Trp)
2g.38070952T>CCA346327237CYP1B1c.1402A>G (p.Arg468Gly)
c.289A>G (p.Arg97Gly)
2g.38070952T>GCA425864318CYP1B1c.1402A>C (p.Arg468=)
c.289A>C (p.Arg97=)
2g.38070953T>ACA346327238CYP1B1c.1401A>T (p.Lys467Asn)
c.288A>T (p.Lys96Asn)
2g.38070953T>CCA425864319CYP1B1c.1401A>G (p.Lys467=)
c.288A>G (p.Lys96=)
2g.38070953T>GCA346327239CYP1B1c.1401A>C (p.Lys467Asn)
c.288A>C (p.Lys96Asn)
 dbSNP gnomAD v4
2g.38070953T=CA1245626036CYP1B1c.1401A= (p.Lys467=)
c.288A= (p.Lys96=)
2g.38070954T>ACA346327240CYP1B1c.1400A>T (p.Lys467Ile)
c.287A>T (p.Lys96Ile)
2g.38070954T>CCA346327242CYP1B1c.1400A>G (p.Lys467Arg)
c.287A>G (p.Lys96Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.38070954T>GCA346327241CYP1B1c.1400A>C (p.Lys467Thr)
c.287A>C (p.Lys96Thr)
2g.38070954T=CA1245626037CYP1B1c.1400A= (p.Lys467=)
c.287A= (p.Lys96=)
2g.38070955T>ACA346327243CYP1B1c.1399A>T (p.Lys467Ter)
c.286A>T (p.Lys96Ter)
2g.38070955T>CCA346327244CYP1B1c.1399A>G (p.Lys467Glu)
c.286A>G (p.Lys96Glu)
2g.38070955T>GCA346327245CYP1B1c.1399A>C (p.Lys467Gln)
c.286A>C (p.Lys96Gln)
 dbSNP gnomAD v3 gnomAD v4
2g.38070955T=CA1245626038CYP1B1c.1399A= (p.Lys467=)
c.286A= (p.Lys96=)
2g.38070956G>ACA425864320CYP1B1c.1398C>T (p.Gly466=)
c.285C>T (p.Gly95=)
 gnomAD v4
2g.38070956G>CCA1619790CYP1B1c.1398C>G (p.Gly466=)
c.285C>G (p.Gly95=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.38070956G=CA1245626039CYP1B1c.1398C= (p.Gly466=)
c.285C= (p.Gly95=)
2g.38070956G>TCA425864321CYP1B1c.1398C>A (p.Gly466=)
c.285C>A (p.Gly95=)
2g.38070957C>ACA346327247CYP1B1c.1397G>T (p.Gly466Val)
c.284G>T (p.Gly95Val)
2g.38070957C=CA1245626040CYP1B1c.1397G= (p.Gly466=)
c.284G= (p.Gly95=)
2g.38070957C>GCA346327246CYP1B1c.1397G>C (p.Gly466Ala)
c.284G>C (p.Gly95Ala)
2g.38070957C>TCA45505990CYP1B1c.1397G>A (p.Gly466Asp)
c.284G>A (p.Gly95Asp)
 dbSNP gnomAD v4
2g.38070958C>ACA346327248CYP1B1c.1396G>T (p.Gly466Cys)
c.283G>T (p.Gly95Cys)
2g.38070958C>GCA346327249CYP1B1c.1396G>C (p.Gly466Arg)
c.283G>C (p.Gly95Arg)
2g.38070958C>TCA346327250CYP1B1c.1396G>A (p.Gly466Ser)
c.283G>A (p.Gly95Ser)
 gnomAD v4
2g.38070959C>ACA425864324CYP1B1c.1395G>T (p.Val465=)
c.282G>T (p.Val94=)
2g.38070959C=CA1245626041CYP1B1c.1395G= (p.Val465=)
c.282G= (p.Val94=)
2g.38070959C>GCA425864323CYP1B1c.1395G>C (p.Val465=)
c.282G>C (p.Val94=)
2g.38070959C>TCA425864322CYP1B1c.1395G>A (p.Val465=)
c.282G>A (p.Val94=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.38070960A>CCA346327251CYP1B1c.1394T>G (p.Val465Gly)
c.281T>G (p.Val94Gly)
2g.38070960A>GCA346327252CYP1B1c.1394T>C (p.Val465Ala)
c.281T>C (p.Val94Ala)
 gnomAD v4
2g.38070960A>TCA346327253CYP1B1c.1394T>A (p.Val465Glu)
c.281T>A (p.Val94Glu)
 dbSNP
2g.38070961C>ACA346327254CYP1B1c.1393G>T (p.Val465Leu)
c.280G>T (p.Val94Leu)
2g.38070961C=CA1245626042CYP1B1c.1393G= (p.Val465=)
c.280G= (p.Val94=)
2g.38070961C>GCA346327255CYP1B1c.1393G>C (p.Val465Leu)
c.280G>C (p.Val94Leu)

Number of alleles fetched