Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.89919443_89919451del	CA2635065251	MC1R	c.185_193del (p.Thr62_Ala64del)	ClinVar gnomAD v4
16	g.89919448_89919449insTGGAGAACGCGCTGGTGGTGGCCACCGTCG	CA2242009377	MC1R	c.190_191insTGGAGAACGCGCTGGTGGTGGCCACCGTCG (p.Ile63_Ala64insValGluAsnAlaLeuValValAlaThrVal)	ClinVar dbSNP gnomAD v4
16	g.89919448G>A	CA8255518	MC1R	c.190G>A (p.Ala64Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16	g.89919448G>C	CA286607418	MC1R	c.190G>C (p.Ala64Pro)	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.89919448G=	CA2242009380	MC1R	c.190G= (p.Ala64=)
16	g.89919448G>T	CA397459799	MC1R	c.190G>T (p.Ala64Ser)	COSMIC
16	g.89919449C>A	CA397459800	MC1R	c.191C>A (p.Ala64Asp)
16	g.89919449C>G	CA397459801	MC1R	c.191C>G (p.Ala64Gly)
16	g.89919449C>T	CA397459802	MC1R	c.191C>T (p.Ala64Val)
16	g.89919450C>A	CA497380928	MC1R	c.192C>A (p.Ala64=)
16	g.89919450C>G	CA497380929	MC1R	c.192C>G (p.Ala64=)
16	g.89919450C>T	CA497380930	MC1R	c.192C>T (p.Ala64=)	gnomAD v4
16	g.89919451A=	CA2242009381	MC1R	c.193A= (p.Lys65=)
16	g.89919451A>C	CA397459805	MC1R	c.193A>C (p.Lys65Gln)
16	g.89919451A>G	CA397459808	MC1R	c.193A>G (p.Lys65Glu)	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.89919451A>T	CA397459811	MC1R	c.193A>T (p.Lys65Ter)
16	g.89919452A>C	CA397459812	MC1R	c.194A>C (p.Lys65Thr)
16	g.89919452A>G	CA397459813	MC1R	c.194A>G (p.Lys65Arg)
16	g.89919452A>T	CA397459814	MC1R	c.194A>T (p.Lys65Met)
16	g.89919452_89919458delinsAGAACCG	CA2242009382	MC1R	c.194_200delinsAGAACCG (p.Lys65=)
16	g.89919453G>A	CA497380931	MC1R	c.195G>A (p.Lys65=)	dbSNP
16	g.89919453G>C	CA286607420	MC1R	c.195G>C (p.Lys65Asn)	dbSNP
16	g.89919453G=	CA2242009383	MC1R	c.195G= (p.Lys65=)
16	g.89919453G>T	CA397459817	MC1R	c.195G>T (p.Lys65Asn)	COSMIC
16	g.89919458_89919463del	CA624455318	MC1R	c.200_205del (p.Arg67_Asn68del)	dbSNP gnomAD v2 gnomAD v4
16	g.89919454A>C	CA397459824	MC1R	c.196A>C (p.Asn66His)
16	g.89919454A>G	CA397459830	MC1R	c.196A>G (p.Asn66Asp)
16	g.89919454A>T	CA397459831	MC1R	c.196A>T (p.Asn66Tyr)
16	g.89919455A=	CA2242009384	MC1R	c.197A= (p.Asn66=)
16	g.89919455A>C	CA397459832	MC1R	c.197A>C (p.Asn66Thr)
16	g.89919455A>G	CA397459833	MC1R	c.197A>G (p.Asn66Ser)
16	g.89919455A>T	CA397459834	MC1R	c.197A>T (p.Asn66Ile)	dbSNP gnomAD v3 gnomAD v4
16	g.89919456C>A	CA397459835	MC1R	c.198C>A (p.Asn66Lys)
16	g.89919456C=	CA2242009385	MC1R	c.198C= (p.Asn66=)
16	g.89919456C>G	CA397459836	MC1R	c.198C>G (p.Asn66Lys)
16	g.89919456C>T	CA286607422	MC1R	c.198C>T (p.Asn66=)	dbSNP
16	g.89919457C>A	CA497380932	MC1R	c.199C>A (p.Arg67=)	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.89919457C=	CA2242009386	MC1R	c.199C= (p.Arg67=)
16	g.89919457C>G	CA397459838	MC1R	c.199C>G (p.Arg67Gly)
16	g.89919457C>T	CA8255519	MC1R	c.199C>T (p.Arg67Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.89919458G>A	CA8255520	MC1R	c.200G>A (p.Arg67Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.89919458G>C	CA397459843	MC1R	c.200G>C (p.Arg67Pro)
16	g.89919458G=	CA2242009387	MC1R	c.200G= (p.Arg67=)
16	g.89919458G>T	CA397459846	MC1R	c.200G>T (p.Arg67Leu)
16	g.89919459del	CA2576103990	MC1R	c.201del (p.Asn68ThrfsTer20)	gnomAD v4
16	g.89919459G>A	CA497380933	MC1R	c.201G>A (p.Arg67=)	dbSNP
16	g.89919459G>C	CA497380934	MC1R	c.201G>C (p.Arg67=)
16	g.89919459G>T	CA497380935	MC1R	c.201G>T (p.Arg67=)
16	g.89919460A>C	CA397459849	MC1R	c.202A>C (p.Asn68His)
16	g.89919460A>G	CA397459853	MC1R	c.202A>G (p.Asn68Asp)	gnomAD v4

Number of alleles fetched