Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.38071038T>A	CA346327410	CYP1B1	c.1316A>T (p.Asn439Ile) n.694A>T c.203A>T (p.Asn68Ile)
2	g.38071038T>C	CA346327411	CYP1B1	c.1316A>G (p.Asn439Ser) n.694A>G c.203A>G (p.Asn68Ser)	gnomAD v4
2	g.38071038T>G	CA346327412	CYP1B1	c.1316A>C (p.Asn439Thr) n.694A>C c.203A>C (p.Asn68Thr)
2	g.38071039T>A	CA346327414	CYP1B1	c.1315A>T (p.Asn439Tyr) n.693A>T c.202A>T (p.Asn68Tyr)
2	g.38071039T>C	CA1619816	CYP1B1	c.1315A>G (p.Asn439Asp) n.693A>G c.202A>G (p.Asn68Asp)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.38071039T>G	CA346327413	CYP1B1	c.1315A>C (p.Asn439His) n.693A>C c.202A>C (p.Asn68His)
2	g.38071039T=	CA1245626087	CYP1B1	c.1315A= (p.Asn439=) n.693A= c.202A= (p.Asn68=)
2	g.38071039_38071043del	CA2586969062	CYP1B1	c.1311_1315del (p.Glu438LeufsTer2) n.689_693del c.198_202del (p.Glu67LeufsTer2)
2	g.38071040C>A	CA346327415	CYP1B1	c.1314G>T (p.Glu438Asp) n.692G>T c.201G>T (p.Glu67Asp)	gnomAD v4
2	g.38071040C=	CA1245626088	CYP1B1	c.1314G= (p.Glu438=) n.692G= c.201G= (p.Glu67=)
2	g.38071040C>G	CA346327416	CYP1B1	c.1314G>C (p.Glu438Asp) n.692G>C c.201G>C (p.Glu67Asp)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.38071040C>T	CA425864397	CYP1B1	c.1314G>A (p.Glu438=) n.692G>A c.201G>A (p.Glu67=)
2	g.38071041T>A	CA346327417	CYP1B1	c.1313A>T (p.Glu438Val) n.691A>T c.200A>T (p.Glu67Val)
2	g.38071041T>C	CA346327419	CYP1B1	c.1313A>G (p.Glu438Gly) n.691A>G c.200A>G (p.Glu67Gly)
2	g.38071041T>G	CA346327418	CYP1B1	c.1313A>C (p.Glu438Ala) n.691A>C c.200A>C (p.Glu67Ala)	gnomAD v4
2	g.38071042C>A	CA346327420	CYP1B1	c.1312G>T (p.Glu438Ter) n.690G>T c.199G>T (p.Glu67Ter)	gnomAD v4
2	g.38071042C>G	CA346327421	CYP1B1	c.1312G>C (p.Glu438Gln) n.690G>C c.199G>C (p.Glu67Gln)	gnomAD v4
2	g.38071042C>T	CA346327422	CYP1B1	c.1312G>A (p.Glu438Lys) n.690G>A c.199G>A (p.Glu67Lys)
2	g.38071043C>A	CA425864476	CYP1B1	c.1311G>T (p.Pro437=) n.689G>T c.198G>T (p.Pro66=)
2	g.38071043C=	CA1245626089	CYP1B1	c.1311G= (p.Pro437=) n.689G= c.198G= (p.Pro66=)
2	g.38071043C>G	CA425864477	CYP1B1	c.1311G>C (p.Pro437=) n.689G>C c.198G>C (p.Pro66=)	gnomAD v4
2	g.38071043C>T	CA1619817	CYP1B1	c.1311G>A (p.Pro437=) n.689G>A c.198G>A (p.Pro66=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.38071044G>A	CA1619819	CYP1B1	c.1310C>T (p.Pro437Leu) n.688C>T c.197C>T (p.Pro66Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.38071044G>C	CA346327423	CYP1B1	c.1310C>G (p.Pro437Arg) n.688C>G c.197C>G (p.Pro66Arg)
2	g.38071044G=	CA1245626090	CYP1B1	c.1310C= (p.Pro437=) n.688C= c.197C= (p.Pro66=)
2	g.38071044G>T	CA1619818	CYP1B1	c.1310C>A (p.Pro437Gln) n.688C>A c.197C>A (p.Pro66Gln)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.38071045G>A	CA45506280	CYP1B1	c.1309C>T (p.Pro437Ser) n.687C>T c.196C>T (p.Pro66Ser)	dbSNP gnomAD v4
2	g.38071045G>C	CA1619820	CYP1B1	c.1309C>G (p.Pro437Ala) n.687C>G c.196C>G (p.Pro66Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.38071045G=	CA1245626091	CYP1B1	c.1309C= (p.Pro437=) n.687C= c.196C= (p.Pro66=)
2	g.38071045G>T	CA346327424	CYP1B1	c.1309C>A (p.Pro437Thr) n.687C>A c.196C>A (p.Pro66Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.38071046G>A	CA425864481	CYP1B1	c.1308C>T (p.Asn436=) n.686C>T c.195C>T (p.Asn65=)	ClinVar dbSNP
2	g.38071046G>C	CA346327425	CYP1B1	c.1308C>G (p.Asn436Lys) n.686C>G c.195C>G (p.Asn65Lys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.38071046G=	CA1245626092	CYP1B1	c.1308C= (p.Asn436=) n.686C= c.195C= (p.Asn65=)
2	g.38071046G>T	CA346327426	CYP1B1	c.1308C>A (p.Asn436Lys) n.686C>A c.195C>A (p.Asn65Lys)
2	g.38071047T>A	CA346327427	CYP1B1	c.1307A>T (p.Asn436Ile) n.685A>T c.194A>T (p.Asn65Ile)
2	g.38071047T>C	CA346327429	CYP1B1	c.1307A>G (p.Asn436Ser) n.685A>G c.194A>G (p.Asn65Ser)
2	g.38071047T>G	CA346327428	CYP1B1	c.1307A>C (p.Asn436Thr) n.685A>C c.194A>C (p.Asn65Thr)
2	g.38071048T>A	CA346327430	CYP1B1	c.1306A>T (p.Asn436Tyr) n.684A>T c.193A>T (p.Asn65Tyr)
2	g.38071048T>C	CA346327431	CYP1B1	c.1306A>G (p.Asn436Asp) n.684A>G c.193A>G (p.Asn65Asp)
2	g.38071048T>G	CA1619821	CYP1B1	c.1306A>C (p.Asn436His) n.684A>C c.193A>C (p.Asn65His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.38071048T=	CA1245626093	CYP1B1	c.1306A= (p.Asn436=) n.684A= c.193A= (p.Asn65=)
2	g.38071049A>C	CA425864486	CYP1B1	c.1305T>G (p.Pro435=) n.683T>G c.192T>G (p.Pro64=)
2	g.38071049A>G	CA425864488	CYP1B1	c.1305T>C (p.Pro435=) n.683T>C c.192T>C (p.Pro64=)
2	g.38071049A>T	CA425864487	CYP1B1	c.1305T>A (p.Pro435=) n.683T>A c.192T>A (p.Pro64=)
2	g.38071050G>A	CA45506300	CYP1B1	c.1304C>T (p.Pro435Leu) n.682C>T c.191C>T (p.Pro64Leu)	dbSNP gnomAD v4
2	g.38071050G>C	CA346327432	CYP1B1	c.1304C>G (p.Pro435Arg) n.682C>G c.191C>G (p.Pro64Arg)	dbSNP gnomAD v2 gnomAD v4
2	g.38071050G=	CA1245626094	CYP1B1	c.1304C= (p.Pro435=) n.682C= c.191C= (p.Pro64=)
2	g.38071050G>T	CA346327433	CYP1B1	c.1304C>A (p.Pro435His) n.682C>A c.191C>A (p.Pro64His)
2	g.38071051G>A	CA346327434	CYP1B1	c.1303C>T (p.Pro435Ser) n.681C>T c.190C>T (p.Pro64Ser)
2	g.38071051G>C	CA346327435	CYP1B1	c.1303C>G (p.Pro435Ala) n.681C>G c.190C>G (p.Pro64Ala)

Number of alleles fetched