Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.89919485T>A	CA8255528	MC1R	c.227T>A (p.Phe76Tyr)	dbSNP ExAC gnomAD v2
16	g.89919485T>C	CA397460009	MC1R	c.227T>C (p.Phe76Ser)
16	g.89919485T>G	CA397460011	MC1R	c.227T>G (p.Phe76Cys)
16	g.89919485T=	CA2242009402	MC1R	c.227T= (p.Phe76=)
16	g.89919486C>A	CA397460014	MC1R	c.228C>A (p.Phe76Leu)
16	g.89919486C=	CA2242009403	MC1R	c.228C= (p.Phe76=)
16	g.89919486C>G	CA397460015	MC1R	c.228C>G (p.Phe76Leu)
16	g.89919486C>T	CA497380125	MC1R	c.228C>T (p.Phe76=)	dbSNP gnomAD v2 gnomAD v4
16	g.89919487A=	CA2242009404	MC1R	c.229A= (p.Ile77=)
16	g.89919487A>C	CA8255529	MC1R	c.229A>C (p.Ile77Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.89919487A>G	CA397460020	MC1R	c.229A>G (p.Ile77Val)	gnomAD v4
16	g.89919487A>T	CA397460021	MC1R	c.229A>T (p.Ile77Phe)
16	g.89919488T>A	CA397460023	MC1R	c.230T>A (p.Ile77Asn)
16	g.89919488T>C	CA8255530	MC1R	c.230T>C (p.Ile77Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.89919488T>G	CA397460027	MC1R	c.230T>G (p.Ile77Ser)
16	g.89919488T=	CA2242009405	MC1R	c.230T= (p.Ile77=)
16	g.89919489C>A	CA497380126	MC1R	c.231C>A (p.Ile77=)	gnomAD v4
16	g.89919489C=	CA2242009406	MC1R	c.231C= (p.Ile77=)
16	g.89919489C>G	CA286607444	MC1R	c.231C>G (p.Ile77Met)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.89919489C>T	CA497380127	MC1R	c.231C>T (p.Ile77=)	gnomAD v4
16	g.89919490T>A	CA397460035	MC1R	c.232T>A (p.Cys78Ser)
16	g.89919490T>C	CA397460031	MC1R	c.232T>C (p.Cys78Arg)
16	g.89919490T>G	CA397460034	MC1R	c.232T>G (p.Cys78Gly)
16	g.89919491G>A	CA397460037	MC1R	c.233G>A (p.Cys78Tyr)
16	g.89919491G>C	CA8255531	MC1R	c.233G>C (p.Cys78Ser)	dbSNP ExAC gnomAD v3 gnomAD v4
16	g.89919491G=	CA2242009407	MC1R	c.233G= (p.Cys78=)
16	g.89919491G>T	CA397460041	MC1R	c.233G>T (p.Cys78Phe)
16	g.89919492C>A	CA397460043	MC1R	c.234C>A (p.Cys78Ter)
16	g.89919492C>G	CA397460046	MC1R	c.234C>G (p.Cys78Trp)
16	g.89919492C>T	CA497380129	MC1R	c.234C>T (p.Cys78=)
16	g.89919493T>A	CA397460047	MC1R	c.235T>A (p.Cys79Ser)
16	g.89919493T>C	CA397460048	MC1R	c.235T>C (p.Cys79Arg)
16	g.89919493T>G	CA397460049	MC1R	c.235T>G (p.Cys79Gly)
16	g.89919494G>A	CA397460050	MC1R	c.236G>A (p.Cys79Tyr)
16	g.89919494G>C	CA397460051	MC1R	c.236G>C (p.Cys79Ser)
16	g.89919494G>T	CA397460053	MC1R	c.236G>T (p.Cys79Phe)
16	g.89919495C>A	CA397460056	MC1R	c.237C>A (p.Cys79Ter)
16	g.89919495C=	CA2242009408	MC1R	c.237C= (p.Cys79=)
16	g.89919495C>G	CA397460054	MC1R	c.237C>G (p.Cys79Trp)	dbSNP gnomAD v2 gnomAD v4
16	g.89919495C>T	CA497380132	MC1R	c.237C>T (p.Cys79=)	dbSNP gnomAD v2 gnomAD v4 COSMIC
16	g.89919496C>A	CA397460058	MC1R	c.238C>A (p.Leu80Met)
16	g.89919496C>G	CA397460060	MC1R	c.238C>G (p.Leu80Val)
16	g.89919496C>T	CA497380133	MC1R	c.238C>T (p.Leu80=)	ClinVar dbSNP gnomAD v4
16	g.89919497T>A	CA397460062	MC1R	c.239T>A (p.Leu80Gln)
16	g.89919497T>C	CA397460063	MC1R	c.239T>C (p.Leu80Pro)	gnomAD v4
16	g.89919497T>G	CA397460065	MC1R	c.239T>G (p.Leu80Arg)
16	g.89919498G>A	CA497380136	MC1R	c.240G>A (p.Leu80=)	gnomAD v4
16	g.89919498G>C	CA497380135	MC1R	c.240G>C (p.Leu80=)
16	g.89919498G>T	CA497380134	MC1R	c.240G>T (p.Leu80=)	gnomAD v4
16	g.89919499G>A	CA397460067	MC1R	c.241G>A (p.Ala81Thr)

Number of alleles fetched