Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.89919541_89919543del	CA2733059078	MC1R	c.283_285del (p.Thr95del)	dbSNP
16	g.89919542C>A	CA397460206	MC1R	c.284C>A (p.Thr95Lys)	dbSNP gnomAD v4
16	g.89919542C=	CA2242009434	MC1R	c.284C= (p.Thr95=)
16	g.89919542C>G	CA397460208	MC1R	c.284C>G (p.Thr95Arg)	ClinVar
16	g.89919542C>T	CA8255546	MC1R	c.284C>T (p.Thr95Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.89919544_89919547del	CA2635065652	MC1R	c.286_289del (p.Ala96SerfsTer26)	gnomAD v4
16	g.89919543G>A	CA8255547	MC1R	c.285G>A (p.Thr95=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.89919543G>C	CA497380184	MC1R	c.285G>C (p.Thr95=)	gnomAD v4
16	g.89919543G=	CA2242009435	MC1R	c.285G= (p.Thr95=)
16	g.89919543G>T	CA497380185	MC1R	c.285G>T (p.Thr95=)
16	g.89919544G>A	CA397460210	MC1R	c.286G>A (p.Ala96Thr)	dbSNP gnomAD v2 gnomAD v4
16	g.89919544G>C	CA397460212	MC1R	c.286G>C (p.Ala96Pro)
16	g.89919544G=	CA2242009436	MC1R	c.286G= (p.Ala96=)
16	g.89919544G>T	CA397460213	MC1R	c.286G>T (p.Ala96Ser)	gnomAD v4
16	g.89919545C>A	CA397460215	MC1R	c.287C>A (p.Ala96Asp)	gnomAD v4 COSMIC
16	g.89919545C>G	CA397460221	MC1R	c.287C>G (p.Ala96Gly)
16	g.89919545C>T	CA397460219	MC1R	c.287C>T (p.Ala96Val)	gnomAD v4
16	g.89919546C>A	CA497380188	MC1R	c.288C>A (p.Ala96=)
16	g.89919546C=	CA2242009437	MC1R	c.288C= (p.Ala96=)
16	g.89919546C>G	CA497380187	MC1R	c.288C>G (p.Ala96=)
16	g.89919546C>T	CA8255548	MC1R	c.288C>T (p.Ala96=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.89919547G>A	CA397460224	MC1R	c.289G>A (p.Val97Ile)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.89919547G>C	CA397460225	MC1R	c.289G>C (p.Val97Leu)
16	g.89919547G=	CA2242009438	MC1R	c.289G= (p.Val97=)
16	g.89919547G>T	CA397460227	MC1R	c.289G>T (p.Val97Phe)
16	g.89919548T>A	CA397460228	MC1R	c.290T>A (p.Val97Asp)
16	g.89919548T>C	CA397460230	MC1R	c.290T>C (p.Val97Ala)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.89919548T>G	CA397460232	MC1R	c.290T>G (p.Val97Gly)
16	g.89919548T=	CA2242009439	MC1R	c.290T= (p.Val97=)
16	g.89919549C>A	CA497380191	MC1R	c.291C>A (p.Val97=)
16	g.89919549C>G	CA497380192	MC1R	c.291C>G (p.Val97=)
16	g.89919549C>T	CA497380193	MC1R	c.291C>T (p.Val97=)	gnomAD v4
16	g.89919550A=	CA2242009440	MC1R	c.292A= (p.Ile98=)
16	g.89919550A>C	CA397460233	MC1R	c.292A>C (p.Ile98Leu)
16	g.89919550A>G	CA8255550	MC1R	c.292A>G (p.Ile98Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.89919550A>T	CA397460235	MC1R	c.292A>T (p.Ile98Phe)
16	g.89919550_89919553delinsATCC	CA2242009441	MC1R	c.292_295delinsATCC (p.Ile98=)
16	g.89919551T>A	CA397460238	MC1R	c.293T>A (p.Ile98Asn)
16	g.89919551T>C	CA397460243	MC1R	c.293T>C (p.Ile98Thr)
16	g.89919551T>G	CA397460242	MC1R	c.293T>G (p.Ile98Ser)
16	g.89919555_89919557del	CA8255549	MC1R	c.297_299del (p.Leu100del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.89919552C>A	CA497380198	MC1R	c.294C>A (p.Ile98=)	gnomAD v4
16	g.89919552C=	CA2242009442	MC1R	c.294C= (p.Ile98=)
16	g.89919552C>G	CA397460245	MC1R	c.294C>G (p.Ile98Met)
16	g.89919552C>T	CA286607451	MC1R	c.294C>T (p.Ile98=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.89919553C>A	CA8255551	MC1R	c.295C>A (p.Leu99Ile)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.89919553C=	CA2242009443	MC1R	c.295C= (p.Leu99=)
16	g.89919553C>G	CA397460246	MC1R	c.295C>G (p.Leu99Val)	gnomAD v4
16	g.89919553C>T	CA397460248	MC1R	c.295C>T (p.Leu99Phe)	dbSNP gnomAD v2 gnomAD v4
16	g.89919554T>A	CA397460253	MC1R	c.296T>A (p.Leu99His)

Number of alleles fetched