Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.89919643C>A	CA397460538	MC1R	c.385C>A (p.Leu129Met)
16	g.89919643C=	CA2242009502	MC1R	c.385C= (p.Leu129=)
16	g.89919643C>G	CA397460539	MC1R	c.385C>G (p.Leu129Val)
16	g.89919643C>T	CA497380589	MC1R	c.385C>T (p.Leu129=)	dbSNP gnomAD v4
16	g.89919644T>A	CA397460542	MC1R	c.386T>A (p.Leu129Gln)
16	g.89919644T>C	CA397460543	MC1R	c.386T>C (p.Leu129Pro)	gnomAD v4
16	g.89919644T>G	CA397460545	MC1R	c.386T>G (p.Leu129Arg)
16	g.89919645G>A	CA497380592	MC1R	c.387G>A (p.Leu129=)
16	g.89919645G>C	CA497380593	MC1R	c.387G>C (p.Leu129=)
16	g.89919645G>T	CA497380594	MC1R	c.387G>T (p.Leu129=)
16	g.89919646T>A	CA397460546	MC1R	c.388T>A (p.Ser130Thr)
16	g.89919646T>C	CA397460547	MC1R	c.388T>C (p.Ser130Pro)
16	g.89919646T>G	CA397460548	MC1R	c.388T>G (p.Ser130Ala)
16	g.89919647C>A	CA397460549	MC1R	c.389C>A (p.Ser130Tyr)
16	g.89919647C=	CA2242009503	MC1R	c.389C= (p.Ser130=)
16	g.89919647C>G	CA397460550	MC1R	c.389C>G (p.Ser130Cys)	ClinVar dbSNP
16	g.89919647C>T	CA286607465	MC1R	c.389C>T (p.Ser130Phe)	dbSNP
16	g.89919648C>A	CA497380596	MC1R	c.390C>A (p.Ser130=)
16	g.89919648C=	CA2242009504	MC1R	c.390C= (p.Ser130=)
16	g.89919648C>G	CA497380597	MC1R	c.390C>G (p.Ser130=)
16	g.89919648C>T	CA497380598	MC1R	c.390C>T (p.Ser130=)	dbSNP gnomAD v3 gnomAD v4
16	g.89919649A=	CA2242009505	MC1R	c.391A= (p.Ser131=)
16	g.89919649A>C	CA397460552	MC1R	c.391A>C (p.Ser131Arg)
16	g.89919649A>G	CA397460553	MC1R	c.391A>G (p.Ser131Gly)	dbSNP gnomAD v2 gnomAD v4
16	g.89919649A>T	CA397460554	MC1R	c.391A>T (p.Ser131Cys)
16	g.89919650G>A	CA8255576	MC1R	c.392G>A (p.Ser131Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.89919650G>C	CA397460565	MC1R	c.392G>C (p.Ser131Thr)
16	g.89919650G=	CA2242009506	MC1R	c.392G= (p.Ser131=)
16	g.89919650G>T	CA397460556	MC1R	c.392G>T (p.Ser131Ile)	gnomAD v4
16	g.89919651C>A	CA397460567	MC1R	c.393C>A (p.Ser131Arg)	gnomAD v4
16	g.89919651C>G	CA397460569	MC1R	c.393C>G (p.Ser131Arg)
16	g.89919651C>T	CA497380601	MC1R	c.393C>T (p.Ser131=)	gnomAD v4
16	g.89919652del	CA2635065989	MC1R	c.394del (p.Leu132SerfsTer25)	gnomAD v4
16	g.89919652C>A	CA397460572	MC1R	c.394C>A (p.Leu132Ile)	gnomAD v4
16	g.89919652C=	CA2242009507	MC1R	c.394C= (p.Leu132=)
16	g.89919652C>G	CA397460573	MC1R	c.394C>G (p.Leu132Val)
16	g.89919652C>T	CA397460575	MC1R	c.394C>T (p.Leu132Phe)	dbSNP gnomAD v2 gnomAD v4
16	g.89919653T>A	CA397460579	MC1R	c.395T>A (p.Leu132His)
16	g.89919653T>C	CA397460578	MC1R	c.395T>C (p.Leu132Pro)
16	g.89919653T>G	CA397460576	MC1R	c.395T>G (p.Leu132Arg)
16	g.89919654C>A	CA497380606	MC1R	c.396C>A (p.Leu132=)
16	g.89919654C=	CA2242009508	MC1R	c.396C= (p.Leu132=)
16	g.89919654C>G	CA497380607	MC1R	c.396C>G (p.Leu132=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.89919654C>T	CA16615041	MC1R	c.396C>T (p.Leu132=)	ClinVar dbSNP gnomAD v2
16	g.89919655T>A	CA397460581	MC1R	c.397T>A (p.Cys133Ser)
16	g.89919655T>C	CA397460582	MC1R	c.397T>C (p.Cys133Arg)
16	g.89919655T>G	CA397460584	MC1R	c.397T>G (p.Cys133Gly)
16	g.89919656G>A	CA397460586	MC1R	c.398G>A (p.Cys133Tyr)	gnomAD v4
16	g.89919656G>C	CA397460590	MC1R	c.398G>C (p.Cys133Ser)
16	g.89919656G>T	CA397460592	MC1R	c.398G>T (p.Cys133Phe)

Number of alleles fetched