Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.89919307_89919308delinsAC	CA2242009287	MC1R	c.49_50delinsAC (p.Thr17=)
16	g.89919308C>A	CA8255468	MC1R	c.50C>A (p.Thr17Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16	g.89919308C=	CA2242009288	MC1R	c.50C= (p.Thr17=)
16	g.89919308C>G	CA397459091	MC1R	c.50C>G (p.Thr17Ser)
16	g.89919308C>T	CA397459094	MC1R	c.50C>T (p.Thr17Ile)	dbSNP gnomAD v2
16	g.89919312del	CA1139665004	MC1R	c.54del (p.Thr19GlnfsTer?)	ClinVar dbSNP
16	g.89919309C>A	CA497380560	MC1R	c.51C>A (p.Thr17=)
16	g.89919309C=	CA2242009289	MC1R	c.51C= (p.Thr17=)
16	g.89919309C>G	CA8255469	MC1R	c.51C>G (p.Thr17=)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.89919309C>T	CA497380561	MC1R	c.51C>T (p.Thr17=)
16	g.89919310C>A	CA397459103	MC1R	c.52C>A (p.Pro18Thr)
16	g.89919310C=	CA2242009290	MC1R	c.52C= (p.Pro18=)
16	g.89919310C>G	CA8255470	MC1R	c.52C>G (p.Pro18Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.89919310C>T	CA397459098	MC1R	c.52C>T (p.Pro18Ser)	dbSNP gnomAD v3 gnomAD v4
16	g.89919311C>A	CA397459105	MC1R	c.53C>A (p.Pro18His)	gnomAD v4
16	g.89919311C>G	CA397459107	MC1R	c.53C>G (p.Pro18Arg)	gnomAD v4
16	g.89919311C>T	CA397459110	MC1R	c.53C>T (p.Pro18Leu)	gnomAD v4
16	g.89919312C>A	CA497380568	MC1R	c.54C>A (p.Pro18=)	dbSNP gnomAD v2 gnomAD v4
16	g.89919312C=	CA2242009291	MC1R	c.54C= (p.Pro18=)
16	g.89919312C>G	CA497380569	MC1R	c.54C>G (p.Pro18=)	dbSNP gnomAD v3 gnomAD v4
16	g.89919312C>T	CA497380570	MC1R	c.54C>T (p.Pro18=)	dbSNP gnomAD v2 gnomAD v4
16	g.89919313A=	CA2242009292	MC1R	c.55A= (p.Thr19=)
16	g.89919313A>C	CA397459112	MC1R	c.55A>C (p.Thr19Pro)
16	g.89919313A>G	CA397459114	MC1R	c.55A>G (p.Thr19Ala)	dbSNP gnomAD v3 gnomAD v4
16	g.89919313A>T	CA397459115	MC1R	c.55A>T (p.Thr19Ser)
16	g.89919314C>A	CA397459116	MC1R	c.56C>A (p.Thr19Lys)
16	g.89919314C=	CA2242009293	MC1R	c.56C= (p.Thr19=)
16	g.89919314C>G	CA397459117	MC1R	c.56C>G (p.Thr19Arg)
16	g.89919314C>T	CA8255471	MC1R	c.56C>T (p.Thr19Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.89919315A>C	CA497380572	MC1R	c.57A>C (p.Thr19=)
16	g.89919315A>G	CA497380573	MC1R	c.57A>G (p.Thr19=)
16	g.89919315A>T	CA497380574	MC1R	c.57A>T (p.Thr19=)
16	g.89919316G>A	CA397459118	MC1R	c.58G>A (p.Ala20Thr)
16	g.89919316G>C	CA397459119	MC1R	c.58G>C (p.Ala20Pro)
16	g.89919316G>T	CA397459120	MC1R	c.58G>T (p.Ala20Ser)
16	g.89919317C>A	CA397459124	MC1R	c.59C>A (p.Ala20Asp)
16	g.89919317C=	CA2242009294	MC1R	c.59C= (p.Ala20=)
16	g.89919317C>G	CA8255472	MC1R	c.59C>G (p.Ala20Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.89919317C>T	CA397459122	MC1R	c.59C>T (p.Ala20Val)	dbSNP gnomAD v2 gnomAD v4
16	g.89919318C>A	CA497380580	MC1R	c.60C>A (p.Ala20=)
16	g.89919318C>G	CA497380581	MC1R	c.60C>G (p.Ala20=)
16	g.89919318C>T	CA497380582	MC1R	c.60C>T (p.Ala20=)
16	g.89919319A>C	CA397459135	MC1R	c.61A>C (p.Ile21Leu)
16	g.89919319A>G	CA397459128	MC1R	c.61A>G (p.Ile21Val)	dbSNP gnomAD v4
16	g.89919319A>T	CA397459133	MC1R	c.61A>T (p.Ile21Phe)
16	g.89919320del	CA2576103978	MC1R	c.62del (p.Ile21ThrfsTer?)
16	g.89919320T>A	CA397459137	MC1R	c.62T>A (p.Ile21Asn)
16	g.89919320T>C	CA397459139	MC1R	c.62T>C (p.Ile21Thr)
16	g.89919320T>G	CA397459140	MC1R	c.62T>G (p.Ile21Ser)
16	g.89919321C>A	CA497380584	MC1R	c.63C>A (p.Ile21=)

Number of alleles fetched