Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.38071006C>A	CA346327350	CYP1B1	c.1348G>T (p.Gly450Cys) n.726G>T c.235G>T (p.Gly79Cys)
2	g.38071006C=	CA1245626064	CYP1B1	c.1348G= (p.Gly450=) n.726G= c.235G= (p.Gly79=)
2	g.38071006C>G	CA346327349	CYP1B1	c.1348G>C (p.Gly450Arg) n.726G>C c.235G>C (p.Gly79Arg)
2	g.38071006C>T	CA1619803	CYP1B1	c.1348G>A (p.Gly450Ser) n.726G>A c.235G>A (p.Gly79Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.38071007A=	CA1245626065	CYP1B1	c.1347T= (p.Asp449=) n.725T= c.234T= (p.Asp78=)
2	g.38071007A>C	CA346327351	CYP1B1	c.1347T>G (p.Asp449Glu) n.725T>G c.234T>G (p.Asp78Glu)
2	g.38071007A>G	CA179947	CYP1B1	c.1347T>C (p.Asp449=) n.725T>C c.234T>C (p.Asp78=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.38071007A>T	CA45506106	CYP1B1	c.1347T>A (p.Asp449Glu) n.725T>A c.234T>A (p.Asp78Glu)	dbSNP
2	g.38071007_38071009delinsGT	CA2586969061	CYP1B1	c.1345_1347delinsAC (p.Asp449ThrfsTer8) n.723_725delinsAC c.232_234delinsAC (p.Asp78ThrfsTer8)
2	g.38071008T>A	CA346327352	CYP1B1	c.1346A>T (p.Asp449Val) n.724A>T c.233A>T (p.Asp78Val)
2	g.38071008T>C	CA346327353	CYP1B1	c.1346A>G (p.Asp449Gly) n.724A>G c.233A>G (p.Asp78Gly)
2	g.38071008T>G	CA346327354	CYP1B1	c.1346A>C (p.Asp449Ala) n.724A>C c.233A>C (p.Asp78Ala)
2	g.38071008_38071009delinsTC	CA1245626066	CYP1B1	c.1345_1346delinsGA (p.Asp449=) n.723_724delinsGA c.232_233delinsGA (p.Asp78=)
2	g.38071009C>A	CA1619806	CYP1B1	c.1345G>T (p.Asp449Tyr) n.723G>T c.232G>T (p.Asp78Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.38071009C=	CA1245626067	CYP1B1	c.1345G= (p.Asp449=) n.723G= c.232G= (p.Asp78=)
2	g.38071009C>G	CA346327355	CYP1B1	c.1345G>C (p.Asp449His) n.723G>C c.232G>C (p.Asp78His)	dbSNP gnomAD v2 gnomAD v4
2	g.38071009C>T	CA1619805	CYP1B1	c.1345G>A (p.Asp449Asn) n.723G>A c.232G>A (p.Asp78Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.38071010del	CA1619804	CYP1B1	c.1345del (p.Asp449MetfsTer8) n.723del c.232del (p.Asp78MetfsTer8)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.38071010C>A	CA346327356	CYP1B1	c.1344G>T (p.Lys448Asn) n.722G>T c.231G>T (p.Lys77Asn)
2	g.38071010C=	CA1245626068	CYP1B1	c.1344G= (p.Lys448=) n.722G= c.231G= (p.Lys77=)
2	g.38071010C>G	CA1619807	CYP1B1	c.1344G>C (p.Lys448Asn) n.722G>C c.231G>C (p.Lys77Asn)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.38071010C>T	CA425864371	CYP1B1	c.1344G>A (p.Lys448=) n.722G>A c.231G>A (p.Lys77=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.38071011T>A	CA346327357	CYP1B1	c.1343A>T (p.Lys448Met) n.721A>T c.230A>T (p.Lys77Met)
2	g.38071011T>C	CA346327358	CYP1B1	c.1343A>G (p.Lys448Arg) n.721A>G c.230A>G (p.Lys77Arg)
2	g.38071011T>G	CA346327359	CYP1B1	c.1343A>C (p.Lys448Thr) n.721A>C c.230A>C (p.Lys77Thr)
2	g.38071012T>A	CA346327360	CYP1B1	c.1342A>T (p.Lys448Ter) n.720A>T c.229A>T (p.Lys77Ter)
2	g.38071012T>C	CA346327361	CYP1B1	c.1342A>G (p.Lys448Glu) n.720A>G c.229A>G (p.Lys77Glu)
2	g.38071012T>G	CA346327362	CYP1B1	c.1342A>C (p.Lys448Gln) n.720A>C c.229A>C (p.Lys77Gln)	gnomAD v4
2	g.38071013G>A	CA425864373	CYP1B1	c.1341C>T (p.Asp447=) n.719C>T c.228C>T (p.Asp76=)	dbSNP gnomAD v2 gnomAD v4
2	g.38071013G>C	CA346327363	CYP1B1	c.1341C>G (p.Asp447Glu) n.719C>G c.228C>G (p.Asp76Glu)
2	g.38071013G=	CA1245626069	CYP1B1	c.1341C= (p.Asp447=) n.719C= c.228C= (p.Asp76=)
2	g.38071013G>T	CA346327364	CYP1B1	c.1341C>A (p.Asp447Glu) n.719C>A c.228C>A (p.Asp76Glu)
2	g.38071014T>A	CA346327367	CYP1B1	c.1340A>T (p.Asp447Val) n.718A>T c.227A>T (p.Asp76Val)
2	g.38071014T>C	CA346327365	CYP1B1	c.1340A>G (p.Asp447Gly) n.718A>G c.227A>G (p.Asp76Gly)
2	g.38071014T>G	CA346327366	CYP1B1	c.1340A>C (p.Asp447Ala) n.718A>C c.227A>C (p.Asp76Ala)
2	g.38071015C>A	CA346327368	CYP1B1	c.1339G>T (p.Asp447Tyr) n.717G>T c.226G>T (p.Asp76Tyr)	dbSNP gnomAD v3 gnomAD v4
2	g.38071015C=	CA1245626070	CYP1B1	c.1339G= (p.Asp447=) n.717G= c.226G= (p.Asp76=)
2	g.38071015C>G	CA346327370	CYP1B1	c.1339G>C (p.Asp447His) n.717G>C c.226G>C (p.Asp76His)
2	g.38071015C>T	CA346327369	CYP1B1	c.1339G>A (p.Asp447Asn) n.717G>A c.226G>A (p.Asp76Asn)
2	g.38071016C>A	CA346327371	CYP1B1	c.1338G>T (p.Leu446Phe) n.716G>T c.225G>T (p.Leu75Phe)
2	g.38071016C=	CA1245626071	CYP1B1	c.1338G= (p.Leu446=) n.716G= c.225G= (p.Leu75=)
2	g.38071016C>G	CA346327372	CYP1B1	c.1338G>C (p.Leu446Phe) n.716G>C c.225G>C (p.Leu75Phe)	dbSNP gnomAD v2 gnomAD v4
2	g.38071016C>T	CA45506146	CYP1B1	c.1338G>A (p.Leu446=) n.716G>A c.225G>A (p.Leu75=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.38071017A>C	CA346327373	CYP1B1	c.1337T>G (p.Leu446Trp) n.715T>G c.224T>G (p.Leu75Trp)
2	g.38071017A>G	CA346327374	CYP1B1	c.1337T>C (p.Leu446Ser) n.715T>C c.224T>C (p.Leu75Ser)
2	g.38071017A>T	CA346327375	CYP1B1	c.1337T>A (p.Leu446Ter) n.715T>A c.224T>A (p.Leu75Ter)
2	g.38071018A=	CA1245626072	CYP1B1	c.1336T= (p.Leu446=) n.714T= c.223T= (p.Leu75=)
2	g.38071018A>C	CA346327376	CYP1B1	c.1336T>G (p.Leu446Val) n.714T>G c.223T>G (p.Leu75Val)
2	g.38071018A>G	CA1619808	CYP1B1	c.1336T>C (p.Leu446=) n.714T>C c.223T>C (p.Leu75=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.38071018A>T	CA346327377	CYP1B1	c.1336T>A (p.Leu446Met) n.714T>A c.223T>A (p.Leu75Met)

Number of alleles fetched