Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.89919323_89919344delinsCCCAGCTGGGGCTGGCTGCCAA	CA2242009296	MC1R	c.65_86delinsCCCAGCTGGGGCTGGCTGCCAA (p.Pro22=)
16	g.89919328_89919348del	CA624455298	MC1R	c.70_90del (p.Leu24_Gln30del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.89919342C>A	CA497380645	MC1R	c.84C>A (p.Ala28=)
16	g.89919342C=	CA2242009307	MC1R	c.84C= (p.Ala28=)
16	g.89919342C>G	CA497380646	MC1R	c.84C>G (p.Ala28=)
16	g.89919342C>T	CA497380647	MC1R	c.84C>T (p.Ala28=)	gnomAD v4
16	g.89919343A=	CA2242009308	MC1R	c.85A= (p.Asn29=)
16	g.89919343A>C	CA397459228	MC1R	c.85A>C (p.Asn29His)
16	g.89919343A>G	CA286607357	MC1R	c.85A>G (p.Asn29Asp)	dbSNP
16	g.89919343A>T	CA397459230	MC1R	c.85A>T (p.Asn29Tyr)
16	g.89919344dup	CA8255480	MC1R	c.86dup (p.Asn29LysfsTer14)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.89919344del	CA2732931170	MC1R	c.86del (p.Asn29ThrfsTer23)	dbSNP
16	g.89919344A=	CA2242009309	MC1R	c.86A= (p.Asn29=)
16	g.89919344A>C	CA397459233	MC1R	c.86A>C (p.Asn29Thr)
16	g.89919344A>G	CA397459235	MC1R	c.86A>G (p.Asn29Ser)	ClinVar dbSNP gnomAD v4
16	g.89919344A>T	CA397459238	MC1R	c.86A>T (p.Asn29Ile)
16	g.89919345C>A	CA397459241	MC1R	c.87C>A (p.Asn29Lys)	gnomAD v4
16	g.89919345C=	CA2242009310	MC1R	c.87C= (p.Asn29=)
16	g.89919345C>G	CA286607359	MC1R	c.87C>G (p.Asn29Lys)	dbSNP gnomAD v2 gnomAD v4
16	g.89919345C>T	CA497380655	MC1R	c.87C>T (p.Asn29=)
16	g.89919346C>A	CA397459245	MC1R	c.88C>A (p.Gln30Lys)	gnomAD v4
16	g.89919346C=	CA2242009311	MC1R	c.88C= (p.Gln30=)
16	g.89919346C>G	CA397459247	MC1R	c.88C>G (p.Gln30Glu)
16	g.89919346C>T	CA8255481	MC1R	c.88C>T (p.Gln30Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16	g.89919347A>C	CA397459249	MC1R	c.89A>C (p.Gln30Pro)
16	g.89919347A>G	CA397459251	MC1R	c.89A>G (p.Gln30Arg)	gnomAD v4
16	g.89919347A>T	CA397459254	MC1R	c.89A>T (p.Gln30Leu)
16	g.89919348G>A	CA497380657	MC1R	c.90G>A (p.Gln30=)
16	g.89919348G>C	CA397459257	MC1R	c.90G>C (p.Gln30His)	dbSNP gnomAD v3 gnomAD v4
16	g.89919348G=	CA2242009312	MC1R	c.90G= (p.Gln30=)
16	g.89919348G>T	CA397459258	MC1R	c.90G>T (p.Gln30His)	dbSNP
16	g.89919349A=	CA2242009313	MC1R	c.91A= (p.Thr31=)
16	g.89919349A>C	CA397459266	MC1R	c.91A>C (p.Thr31Pro)
16	g.89919349A>G	CA397459264	MC1R	c.91A>G (p.Thr31Ala)	dbSNP gnomAD v2 gnomAD v4
16	g.89919349A>T	CA397459261	MC1R	c.91A>T (p.Thr31Ser)
16	g.89919350C>A	CA397459269	MC1R	c.92C>A (p.Thr31Lys)
16	g.89919350C>G	CA397459271	MC1R	c.92C>G (p.Thr31Arg)
16	g.89919350C>T	CA397459273	MC1R	c.92C>T (p.Thr31Ile)	gnomAD v4
16	g.89919351A>C	CA497380663	MC1R	c.93A>C (p.Thr31=)
16	g.89919351A>G	CA497380665	MC1R	c.93A>G (p.Thr31=)
16	g.89919351A>T	CA497380664	MC1R	c.93A>T (p.Thr31=)
16	g.89919351_89919352delinsAG	CA2242009314	MC1R	c.93_94delinsAG (p.Thr31=)
16	g.89919352G>A	CA397459277	MC1R	c.94G>A (p.Gly32Arg)
16	g.89919352G>C	CA397459280	MC1R	c.94G>C (p.Gly32Arg)
16	g.89919352G>T	CA397459283	MC1R	c.94G>T (p.Gly32Ter)
16	g.89919353del	CA2242009315	MC1R	c.95del (p.Gly32GlufsTer20)	dbSNP
16	g.89919354_89919360del	CA2580092412	MC1R	c.96_102del (p.Arg34TrpfsTer16)	ClinVar
16	g.89919353G>A	CA397459284	MC1R	c.95G>A (p.Gly32Glu)
16	g.89919353G>C	CA397459289	MC1R	c.95G>C (p.Gly32Ala)
16	g.89919353G>T	CA397459286	MC1R	c.95G>T (p.Gly32Val)

Number of alleles fetched