Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.38071104T>A	CA346327548	CYP1B1	c.1250A>T (p.Asp417Val) n.628A>T c.137A>T (p.Asp46Val)
2	g.38071104T>C	CA346327549	CYP1B1	c.1250A>G (p.Asp417Gly) n.628A>G c.137A>G (p.Asp46Gly)
2	g.38071104T>G	CA346327550	CYP1B1	c.1250A>C (p.Asp417Ala) n.628A>C c.137A>C (p.Asp46Ala)
2	g.38071105C>A	CA346327551	CYP1B1	c.1249G>T (p.Asp417Tyr) n.627G>T c.136G>T (p.Asp46Tyr)
2	g.38071105C>G	CA346327552	CYP1B1	c.1249G>C (p.Asp417His) n.627G>C c.136G>C (p.Asp46His)
2	g.38071105C>T	CA346327553	CYP1B1	c.1249G>A (p.Asp417Asn) n.627G>A c.136G>A (p.Asp46Asn)	gnomAD v4
2	g.38071106C>A	CA346327554	CYP1B1	c.1248G>T (p.Lys416Asn) n.626G>T c.135G>T (p.Lys45Asn)
2	g.38071106C=	CA1245626124	CYP1B1	c.1248G= (p.Lys416=) n.626G= c.135G= (p.Lys45=)
2	g.38071106C>G	CA346327555	CYP1B1	c.1248G>C (p.Lys416Asn) n.626G>C c.135G>C (p.Lys45Asn)	gnomAD v4
2	g.38071106C>T	CA1619830	CYP1B1	c.1248G>A (p.Lys416=) n.626G>A c.135G>A (p.Lys45=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.38071107T>A	CA346327556	CYP1B1	c.1247A>T (p.Lys416Met) n.625A>T c.134A>T (p.Lys45Met)
2	g.38071107T>C	CA346327557	CYP1B1	c.1247A>G (p.Lys416Arg) n.625A>G c.134A>G (p.Lys45Arg)
2	g.38071107T>G	CA346327558	CYP1B1	c.1247A>C (p.Lys416Thr) n.625A>C c.134A>C (p.Lys45Thr)	dbSNP
2	g.38071107T=	CA1245626125	CYP1B1	c.1247A= (p.Lys416=) n.625A= c.134A= (p.Lys45=)
2	g.38071108T>A	CA346327559	CYP1B1	c.1246A>T (p.Lys416Ter) n.624A>T c.133A>T (p.Lys45Ter)
2	g.38071108T>C	CA45506389	CYP1B1	c.1246A>G (p.Lys416Glu) n.624A>G c.133A>G (p.Lys45Glu)	dbSNP gnomAD v3 gnomAD v4
2	g.38071108T>G	CA346327560	CYP1B1	c.1246A>C (p.Lys416Gln) n.624A>C c.133A>C (p.Lys45Gln)
2	g.38071108T=	CA1245626126	CYP1B1	c.1246A= (p.Lys416=) n.624A= c.133A= (p.Lys45=)
2	g.38071109G>A	CA425864536	CYP1B1	c.1245C>T (p.Pro415=) n.623C>T c.132C>T (p.Pro44=)	ClinVar dbSNP
2	g.38071109G>C	CA425864538	CYP1B1	c.1245C>G (p.Pro415=) n.623C>G c.132C>G (p.Pro44=)
2	g.38071109G>T	CA425864540	CYP1B1	c.1245C>A (p.Pro415=) n.623C>A c.132C>A (p.Pro44=)
2	g.38071110G>A	CA346327561	CYP1B1	c.1244C>T (p.Pro415Leu) n.622C>T c.131C>T (p.Pro44Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.38071110G>C	CA346327563	CYP1B1	c.1244C>G (p.Pro415Arg) n.622C>G c.131C>G (p.Pro44Arg)	gnomAD v4
2	g.38071110G=	CA1245626127	CYP1B1	c.1244C= (p.Pro415=) n.622C= c.131C= (p.Pro44=)
2	g.38071110G>T	CA346327562	CYP1B1	c.1244C>A (p.Pro415His) n.622C>A c.131C>A (p.Pro44His)
2	g.38071111G>A	CA346327564	CYP1B1	c.1243C>T (p.Pro415Ser) n.621C>T c.130C>T (p.Pro44Ser)
2	g.38071111G>C	CA346327565	CYP1B1	c.1243C>G (p.Pro415Ala) n.621C>G c.130C>G (p.Pro44Ala)
2	g.38071111G>T	CA346327566	CYP1B1	c.1243C>A (p.Pro415Thr) n.621C>A c.130C>A (p.Pro44Thr)
2	g.38071112A>C	CA346327567	CYP1B1	c.1242T>G (p.Ile414Met) n.620T>G c.129T>G (p.Ile43Met)
2	g.38071112A>G	CA425864543	CYP1B1	c.1242T>C (p.Ile414=) n.620T>C c.129T>C (p.Ile43=)
2	g.38071112A>T	CA425864542	CYP1B1	c.1242T>A (p.Ile414=) n.620T>A c.129T>A (p.Ile43=)	gnomAD v4
2	g.38071113dup	CA2658667726	CYP1B1	c.1242dup (p.Pro415SerfsTer16) n.620dup c.129dup (p.Pro44SerfsTer16)	gnomAD v4
2	g.38071112_38071115delinsCTTT	CA2586969065	CYP1B1	c.1239_1242delinsAAAG (p.His413_Ile414delinsGlnLys) n.617_620delinsAAAG c.126_129delinsAAAG (p.His42_Ile43delinsGlnLys)
2	g.38071113A>C	CA346327568	CYP1B1	c.1241T>G (p.Ile414Ser) n.619T>G c.128T>G (p.Ile43Ser)	gnomAD v4
2	g.38071113A>G	CA346327570	CYP1B1	c.1241T>C (p.Ile414Thr) n.619T>C c.128T>C (p.Ile43Thr)
2	g.38071113A>T	CA346327569	CYP1B1	c.1241T>A (p.Ile414Asn) n.619T>A c.128T>A (p.Ile43Asn)
2	g.38071114T>A	CA346327571	CYP1B1	c.1240A>T (p.Ile414Phe) n.618A>T c.127A>T (p.Ile43Phe)	dbSNP gnomAD v4
2	g.38071114T>C	CA1619831	CYP1B1	c.1240A>G (p.Ile414Val) n.618A>G c.127A>G (p.Ile43Val)	dbSNP ExAC gnomAD v2
2	g.38071114T>G	CA346327572	CYP1B1	c.1240A>C (p.Ile414Leu) n.618A>C c.127A>C (p.Ile43Leu)
2	g.38071114T=	CA1245626128	CYP1B1	c.1240A= (p.Ile414=) n.618A= c.127A= (p.Ile43=)
2	g.38071115G>A	CA425864546	CYP1B1	c.1239C>T (p.His413=) n.617C>T c.126C>T (p.His42=)	ClinVar
2	g.38071115G>C	CA346327573	CYP1B1	c.1239C>G (p.His413Gln) n.617C>G c.126C>G (p.His42Gln)
2	g.38071115G>T	CA346327574	CYP1B1	c.1239C>A (p.His413Gln) n.617C>A c.126C>A (p.His42Gln)	gnomAD v4
2	g.38071116T>A	CA346327575	CYP1B1	c.1238A>T (p.His413Leu) n.616A>T c.125A>T (p.His42Leu)
2	g.38071116T>C	CA346327576	CYP1B1	c.1238A>G (p.His413Arg) n.616A>G c.125A>G (p.His42Arg)
2	g.38071116T>G	CA346327577	CYP1B1	c.1238A>C (p.His413Pro) n.616A>C c.125A>C (p.His42Pro)
2	g.38071117G>A	CA346327578	CYP1B1	c.1237C>T (p.His413Tyr) n.615C>T c.124C>T (p.His42Tyr)
2	g.38071117G>C	CA346327579	CYP1B1	c.1237C>G (p.His413Asp) n.615C>G c.124C>G (p.His42Asp)
2	g.38071117G>T	CA346327580	CYP1B1	c.1237C>A (p.His413Asn) n.615C>A c.124C>A (p.His42Asn)
2	g.38071118G>A	CA425864547	CYP1B1	c.1236C>T (p.Tyr412=) n.614C>T c.123C>T (p.Tyr41=)	dbSNP

Number of alleles fetched