Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.38071084G>A	CA1619826	CYP1B1	c.1270C>T (p.Gln424Ter) n.648C>T c.157C>T (p.Gln53Ter)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.38071084G>C	CA346327509	CYP1B1	c.1270C>G (p.Gln424Glu) n.648C>G c.157C>G (p.Gln53Glu)
2	g.38071084G=	CA1245626112	CYP1B1	c.1270C= (p.Gln424=) n.648C= c.157C= (p.Gln53=)
2	g.38071084G>T	CA346327508	CYP1B1	c.1270C>A (p.Gln424Lys) n.648C>A c.157C>A (p.Gln53Lys)
2	g.38071085G>A	CA425864516	CYP1B1	c.1269C>T (p.Asn423=) n.647C>T c.156C>T (p.Asn52=)
2	g.38071085G>C	CA346327510	CYP1B1	c.1269C>G (p.Asn423Lys) n.647C>G c.156C>G (p.Asn52Lys)
2	g.38071085G=	CA1245626113	CYP1B1	c.1269C= (p.Asn423=) n.647C= c.156C= (p.Asn52=)
2	g.38071085G>T	CA346327511	CYP1B1	c.1269C>A (p.Asn423Lys) n.647C>A c.156C>A (p.Asn52Lys)	dbSNP gnomAD v3 gnomAD v4
2	g.38071086T>A	CA1619827	CYP1B1	c.1268A>T (p.Asn423Ile) n.646A>T c.155A>T (p.Asn52Ile)	dbSNP ExAC gnomAD v2
2	g.38071086T>C	CA346327512	CYP1B1	c.1268A>G (p.Asn423Ser) n.646A>G c.155A>G (p.Asn52Ser)
2	g.38071086T>G	CA346327513	CYP1B1	c.1268A>C (p.Asn423Thr) n.646A>C c.155A>C (p.Asn52Thr)
2	g.38071086T=	CA1245626114	CYP1B1	c.1268A= (p.Asn423=) n.646A= c.155A= (p.Asn52=)
2	g.38071087T>A	CA119017	CYP1B1	c.1267A>T (p.Asn423Tyr) n.645A>T c.154A>T (p.Asn52Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.38071087T>C	CA346327514	CYP1B1	c.1267A>G (p.Asn423Asp) n.645A>G c.154A>G (p.Asn52Asp)
2	g.38071087T>G	CA346327515	CYP1B1	c.1267A>C (p.Asn423His) n.645A>C c.154A>C (p.Asn52His)
2	g.38071087T=	CA1245626115	CYP1B1	c.1267A= (p.Asn423=) n.645A= c.154A= (p.Asn52=)
2	g.38071088G>A	CA45506359	CYP1B1	c.1266C>T (p.Val422=) n.644C>T c.153C>T (p.Val51=)	dbSNP gnomAD v4
2	g.38071088G>C	CA425864517	CYP1B1	c.1266C>G (p.Val422=) n.644C>G c.153C>G (p.Val51=)
2	g.38071088G=	CA1245626116	CYP1B1	c.1266C= (p.Val422=) n.644C= c.153C= (p.Val51=)
2	g.38071088G>T	CA425864518	CYP1B1	c.1266C>A (p.Val422=) n.644C>A c.153C>A (p.Val51=)	dbSNP gnomAD v4
2	g.38071089A>C	CA346327516	CYP1B1	c.1265T>G (p.Val422Gly) n.643T>G c.152T>G (p.Val51Gly)
2	g.38071089A>G	CA346327517	CYP1B1	c.1265T>C (p.Val422Ala) n.643T>C c.152T>C (p.Val51Ala)
2	g.38071089A>T	CA346327518	CYP1B1	c.1265T>A (p.Val422Asp) n.643T>A c.152T>A (p.Val51Asp)
2	g.38071089_38071090insAAGAAAA	CA2749544586	CYP1B1	c.1265_1266insTTTCTTT (p.Asn423PhefsTer10) n.643_644insTTTCTTT c.152_153insTTTCTTT (p.Asn52PhefsTer10)
2	g.38071090C>A	CA346327519	CYP1B1	c.1264G>T (p.Val422Phe) n.642G>T c.151G>T (p.Val51Phe)
2	g.38071090C=	CA1245626117	CYP1B1	c.1264G= (p.Val422=) n.642G= c.151G= (p.Val51=)
2	g.38071090C>G	CA346327520	CYP1B1	c.1264G>C (p.Val422Leu) n.642G>C c.151G>C (p.Val51Leu)
2	g.38071090C>T	CA1619828	CYP1B1	c.1264G>A (p.Val422Ile) n.642G>A c.151G>A (p.Val51Ile)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.38071091A=	CA1245626118	CYP1B1	c.1263T= (p.Phe421=) n.641T= c.150T= (p.Phe50=)
2	g.38071091A>C	CA346327522	CYP1B1	c.1263T>G (p.Phe421Leu) n.641T>G c.150T>G (p.Phe50Leu)	dbSNP gnomAD v2 gnomAD v4
2	g.38071091A>G	CA45506368	CYP1B1	c.1263T>C (p.Phe421=) n.641T>C c.150T>C (p.Phe50=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.38071091A>T	CA346327521	CYP1B1	c.1263T>A (p.Phe421Leu) n.641T>A c.150T>A (p.Phe50Leu)
2	g.38071095del	CA2698954867	CYP1B1	c.1263del (p.Phe421LeufsTer7) n.641del c.150del (p.Phe50LeufsTer7)	dbSNP
2	g.38071092A>C	CA346327524	CYP1B1	c.1262T>G (p.Phe421Cys) n.640T>G c.149T>G (p.Phe50Cys)
2	g.38071092A>G	CA346327523	CYP1B1	c.1262T>C (p.Phe421Ser) n.640T>C c.149T>C (p.Phe50Ser)
2	g.38071092A>T	CA346327525	CYP1B1	c.1262T>A (p.Phe421Tyr) n.640T>A c.149T>A (p.Phe50Tyr)
2	g.38071093A>C	CA346327526	CYP1B1	c.1261T>G (p.Phe421Val) n.639T>G c.148T>G (p.Phe50Val)
2	g.38071093A>G	CA346327528	CYP1B1	c.1261T>C (p.Phe421Leu) n.639T>C c.148T>C (p.Phe50Leu)
2	g.38071093A>T	CA346327527	CYP1B1	c.1261T>A (p.Phe421Ile) n.639T>A c.148T>A (p.Phe50Ile)
2	g.38071094A>C	CA425864522	CYP1B1	c.1260T>G (p.Val420=) n.638T>G c.147T>G (p.Val49=)
2	g.38071094A>G	CA425864523	CYP1B1	c.1260T>C (p.Val420=) n.638T>C c.147T>C (p.Val49=)
2	g.38071094A>T	CA425864524	CYP1B1	c.1260T>A (p.Val420=) n.638T>A c.147T>A (p.Val49=)
2	g.38071095A>C	CA346327529	CYP1B1	c.1259T>G (p.Val420Gly) n.637T>G c.146T>G (p.Val49Gly)	gnomAD v4
2	g.38071095A>G	CA346327531	CYP1B1	c.1259T>C (p.Val420Ala) n.637T>C c.146T>C (p.Val49Ala)
2	g.38071095A>T	CA346327530	CYP1B1	c.1259T>A (p.Val420Asp) n.637T>A c.146T>A (p.Val49Asp)
2	g.38071096C>A	CA346327532	CYP1B1	c.1258G>T (p.Val420Phe) n.636G>T c.145G>T (p.Val49Phe)
2	g.38071096C=	CA1245626119	CYP1B1	c.1258G= (p.Val420=) n.636G= c.145G= (p.Val49=)
2	g.38071096C>G	CA346327533	CYP1B1	c.1258G>C (p.Val420Leu) n.636G>C c.145G>C (p.Val49Leu)	dbSNP gnomAD v4
2	g.38071096C>T	CA346327534	CYP1B1	c.1258G>A (p.Val420Ile) n.636G>A c.145G>A (p.Val49Ile)	dbSNP gnomAD v4
2	g.38071097C>A	CA425864525	CYP1B1	c.1257G>T (p.Val419=) n.635G>T c.144G>T (p.Val48=)	gnomAD v4

Number of alleles fetched