Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.38071001G>A	CA425864363	CYP1B1	c.1353C>T (p.Leu451=) n.731C>T c.240C>T (p.Leu80=)	ClinVar gnomAD v4
2	g.38071001G>C	CA425864362	CYP1B1	c.1353C>G (p.Leu451=) n.731C>G c.240C>G (p.Leu80=)
2	g.38071001G>T	CA425864361	CYP1B1	c.1353C>A (p.Leu451=) n.731C>A c.240C>A (p.Leu80=)
2	g.38071002A>C	CA346327342	CYP1B1	c.1352T>G (p.Leu451Arg) n.730T>G c.239T>G (p.Leu80Arg)
2	g.38071002A>G	CA346327340	CYP1B1	c.1352T>C (p.Leu451Pro) n.730T>C c.239T>C (p.Leu80Pro)
2	g.38071002A>T	CA346327341	CYP1B1	c.1352T>A (p.Leu451His) n.730T>A c.239T>A (p.Leu80His)
2	g.38071003G>A	CA346327343	CYP1B1	c.1351C>T (p.Leu451Phe) n.729C>T c.238C>T (p.Leu80Phe)	dbSNP
2	g.38071003G>C	CA346327344	CYP1B1	c.1351C>G (p.Leu451Val) n.729C>G c.238C>G (p.Leu80Val)
2	g.38071003G>T	CA346327345	CYP1B1	c.1351C>A (p.Leu451Ile) n.729C>A c.238C>A (p.Leu80Ile)
2	g.38071004G>A	CA425864367	CYP1B1	c.1350C>T (p.Gly450=) n.728C>T c.237C>T (p.Gly79=)
2	g.38071004G>C	CA425864368	CYP1B1	c.1350C>G (p.Gly450=) n.728C>G c.237C>G (p.Gly79=)
2	g.38071004G>T	CA425864369	CYP1B1	c.1350C>A (p.Gly450=) n.728C>A c.237C>A (p.Gly79=)
2	g.38071005C>A	CA346327346	CYP1B1	c.1349G>T (p.Gly450Val) n.727G>T c.236G>T (p.Gly79Val)
2	g.38071005C>G	CA346327347	CYP1B1	c.1349G>C (p.Gly450Ala) n.727G>C c.236G>C (p.Gly79Ala)
2	g.38071005C>T	CA346327348	CYP1B1	c.1349G>A (p.Gly450Asp) n.727G>A c.236G>A (p.Gly79Asp)	gnomAD v4
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)

Number of alleles fetched