Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.89919739dup	CA2695224047	MC1R	c.481dup (p.Ala161GlyfsTer?)
16	g.89919738G>A	CA8255610	MC1R	c.480G>A (p.Arg160=)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.89919738G>C	CA497380815	MC1R	c.480G>C (p.Arg160=)
16	g.89919738G=	CA2242009576	MC1R	c.480G= (p.Arg160=)
16	g.89919738G>T	CA286607482	MC1R	c.480G>T (p.Arg160=)	ClinVar dbSNP gnomAD v2 gnomAD v4
16	g.89919739G>A	CA397460954	MC1R	c.481G>A (p.Ala161Thr)
16	g.89919739G>C	CA397460955	MC1R	c.481G>C (p.Ala161Pro)
16	g.89919739G>T	CA397460957	MC1R	c.481G>T (p.Ala161Ser)	gnomAD v4
16	g.89919740C>A	CA8255611	MC1R	c.482C>A (p.Ala161Glu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.89919740C=	CA2242009577	MC1R	c.482C= (p.Ala161=)
16	g.89919740C>G	CA397461500	MC1R	c.482C>G (p.Ala161Gly)
16	g.89919740C>T	CA8255612	MC1R	c.482C>T (p.Ala161Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.89919740_89919753delinsCGCGGCGAGCCGTT	CA2242009578	MC1R	c.482_495delinsCGCGGCGAGCCGTT (p.Ala161=)
16	g.89919741G>A	CA8255613	MC1R	c.483G>A (p.Ala161=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.89919741G>C	CA497380334	MC1R	c.483G>C (p.Ala161=)
16	g.89919741G=	CA2242009579	MC1R	c.483G= (p.Ala161=)
16	g.89919741G>T	CA497380336	MC1R	c.483G>T (p.Ala161=)	gnomAD v4
16	g.89919746_89919758del	CA624455294	MC1R	c.488_500del (p.Arg163ProfsTer?)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.89919742C>A	CA497380338	MC1R	c.484C>A (p.Arg162=)
16	g.89919742C=	CA2242009580	MC1R	c.484C= (p.Arg162=)
16	g.89919742C>G	CA8255614	MC1R	c.484C>G (p.Arg162Gly)	dbSNP ExAC
16	g.89919742C>T	CA8255615	MC1R	c.484C>T (p.Arg162Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.89919743G>A	CA8255616	MC1R	c.485G>A (p.Arg162Gln)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.89919743G>C	CA397461510	MC1R	c.485G>C (p.Arg162Pro)
16	g.89919743G=	CA2242009581	MC1R	c.485G= (p.Arg162=)
16	g.89919743G>T	CA397461514	MC1R	c.485G>T (p.Arg162Leu)	gnomAD v4
16	g.89919745_89919765del	CA2635066374	MC1R	c.487_507del (p.Arg163_Trp169del)	gnomAD v4
16	g.89919744G>A	CA497380345	MC1R	c.486G>A (p.Arg162=)	dbSNP gnomAD v3 gnomAD v4
16	g.89919744G>C	CA497380348	MC1R	c.486G>C (p.Arg162=)
16	g.89919744G=	CA2242009582	MC1R	c.486G= (p.Arg162=)
16	g.89919744G>T	CA497380347	MC1R	c.486G>T (p.Arg162=)	gnomAD v4
16	g.89919745C>A	CA497380350	MC1R	c.487C>A (p.Arg163=)	gnomAD v4
16	g.89919745C=	CA2242009583	MC1R	c.487C= (p.Arg163=)
16	g.89919745C>G	CA8255617	MC1R	c.487C>G (p.Arg163Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.89919745C>T	CA8255618	MC1R	c.487C>T (p.Arg163Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16	g.89919745_89919756delinsCGAGCCGTTGCG	CA2242009584	MC1R	c.487_498delinsCGAGCCGTTGCG (p.Arg163=)
16	g.89919746G>A	CA8255619	MC1R	c.488G>A (p.Arg163Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.89919746G>C	CA397461518	MC1R	c.488G>C (p.Arg163Pro)	dbSNP
16	g.89919746G=	CA2242009586	MC1R	c.488G= (p.Arg163=)
16	g.89919746G>T	CA397461521	MC1R	c.488G>T (p.Arg163Leu)	gnomAD v4
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

Number of alleles fetched