Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.89919740_89919753delinsCGCGGCGAGCCGTT	CA2242009578	MC1R	c.482_495delinsCGCGGCGAGCCGTT (p.Ala161=)
16	g.89919746_89919758del	CA624455294	MC1R	c.488_500del (p.Arg163ProfsTer?)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.89919745_89919765del	CA2635066374	MC1R	c.487_507del (p.Arg163_Trp169del)	gnomAD v4
16	g.89919745_89919756delinsCGAGCCGTTGCG	CA2242009584	MC1R	c.487_498delinsCGAGCCGTTGCG (p.Arg163=)
16	g.89919747_89919757del	CA2242009585	MC1R	c.489_499del (p.Ala164HisfsTer?)	dbSNP gnomAD v4
16	g.89919747A>C	CA497380361	MC1R	c.489A>C (p.Arg163=)
16	g.89919747A>G	CA497380362	MC1R	c.489A>G (p.Arg163=)
16	g.89919747A>T	CA497380364	MC1R	c.489A>T (p.Arg163=)
16	g.89919748G>A	CA8255620	MC1R	c.490G>A (p.Ala164Thr)	dbSNP ExAC gnomAD v2
16	g.89919748G>C	CA397461527	MC1R	c.490G>C (p.Ala164Pro)
16	g.89919748G=	CA2242009587	MC1R	c.490G= (p.Ala164=)
16	g.89919748G>T	CA397461524	MC1R	c.490G>T (p.Ala164Ser)	gnomAD v4
16	g.89919749C>A	CA397461529	MC1R	c.491C>A (p.Ala164Asp)	gnomAD v4
16	g.89919749C>G	CA397461531	MC1R	c.491C>G (p.Ala164Gly)	ClinVar
16	g.89919749C>T	CA397461532	MC1R	c.491C>T (p.Ala164Val)	gnomAD v4
16	g.89919750C>A	CA497380378	MC1R	c.492C>A (p.Ala164=)	gnomAD v4
16	g.89919750C=	CA2242009588	MC1R	c.492C= (p.Ala164=)
16	g.89919750C>G	CA497380382	MC1R	c.492C>G (p.Ala164=)	gnomAD v4
16	g.89919750C>T	CA8255621	MC1R	c.492C>T (p.Ala164=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.89919751G>A	CA8255622	MC1R	c.493G>A (p.Val165Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.89919751G>C	CA397461538	MC1R	c.493G>C (p.Val165Leu)	dbSNP
16	g.89919751G=	CA2242009589	MC1R	c.493G= (p.Val165=)
16	g.89919751G>T	CA397461539	MC1R	c.493G>T (p.Val165Phe)	gnomAD v4
16	g.89919752T>A	CA397461542	MC1R	c.494T>A (p.Val165Asp)
16	g.89919752T>C	CA8255623	MC1R	c.494T>C (p.Val165Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.89919752T>G	CA397461547	MC1R	c.494T>G (p.Val165Gly)
16	g.89919752T=	CA2242009590	MC1R	c.494T= (p.Val165=)
16	g.89919753T>A	CA497380410	MC1R	c.495T>A (p.Val165=)	gnomAD v4
16	g.89919753T>C	CA497380412	MC1R	c.495T>C (p.Val165=)	dbSNP gnomAD v4 COSMIC
16	g.89919753T>G	CA497380407	MC1R	c.495T>G (p.Val165=)
16	g.89919753T=	CA2242009591	MC1R	c.495T= (p.Val165=)
16	g.89919754G>A	CA8255625	MC1R	c.496G>A (p.Ala166Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.89919754G>C	CA397461553	MC1R	c.496G>C (p.Ala166Pro)
16	g.89919754G=	CA2242009592	MC1R	c.496G= (p.Ala166=)
16	g.89919754G>T	CA286607501	MC1R	c.496G>T (p.Ala166Ser)	dbSNP gnomAD v3 gnomAD v4
16	g.89919754dup	CA8255624	MC1R	c.496dup (p.Ala166GlyfsTer?)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16	g.89919755del	CA2576104016	MC1R	c.497del (p.Ala166GlyfsTer?)
16	g.89919755C>A	CA397461557	MC1R	c.497C>A (p.Ala166Glu)	dbSNP gnomAD v4
16	g.89919755C=	CA2242009593	MC1R	c.497C= (p.Ala166=)
16	g.89919755C>G	CA8255626	MC1R	c.497C>G (p.Ala166Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.89919755C>T	CA8255627	MC1R	c.497C>T (p.Ala166Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.89919756G>A	CA8255628	MC1R	c.498G>A (p.Ala166=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.89919756G>C	CA497380443	MC1R	c.498G>C (p.Ala166=)	dbSNP gnomAD v2 gnomAD v4
16	g.89919756G=	CA2242009594	MC1R	c.498G= (p.Ala166=)
16	g.89919756G>T	CA497380445	MC1R	c.498G>T (p.Ala166=)	gnomAD v4
16	g.89919757G>A	CA397461564	MC1R	c.499G>A (p.Ala167Thr)	gnomAD v4 COSMIC
16	g.89919757G>C	CA397461567	MC1R	c.499G>C (p.Ala167Pro)
16	g.89919757G>T	CA397461569	MC1R	c.499G>T (p.Ala167Ser)	gnomAD v4
16	g.89919758C>A	CA397461572	MC1R	c.500C>A (p.Ala167Asp)	dbSNP gnomAD v2 gnomAD v4
16	g.89919758C=	CA2242009595	MC1R	c.500C= (p.Ala167=)

Number of alleles fetched