Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.89919691_89919692del	CA2242009533	MC1R	c.433_434del (p.Ser145HisfsTer?)	dbSNP gnomAD v4
16	g.89919691T>A	CA397460757	MC1R	c.433T>A (p.Ser145Thr)
16	g.89919691T>C	CA397460752	MC1R	c.433T>C (p.Ser145Pro)
16	g.89919691T>G	CA397460755	MC1R	c.433T>G (p.Ser145Ala)
16	g.89919691T=	CA2242009535	MC1R	c.433T= (p.Ser145=)
16	g.89919692C>A	CA397460760	MC1R	c.434C>A (p.Ser145Tyr)	gnomAD v4
16	g.89919692C=	CA2242009537	MC1R	c.434C= (p.Ser145=)
16	g.89919692C>G	CA397460763	MC1R	c.434C>G (p.Ser145Cys)	gnomAD v4
16	g.89919692C>T	CA397460765	MC1R	c.434C>T (p.Ser145Phe)	dbSNP gnomAD v4
16	g.89919693dup	CA2242009536	MC1R	c.435dup (p.Ile146HisfsTer?)	dbSNP gnomAD v4
16	g.89919692_89919695delinsCCAT	CA2242009538	MC1R	c.434_437delinsCCAT (p.Ser145=)
16	g.89919693C>A	CA497380688	MC1R	c.435C>A (p.Ser145=)	gnomAD v4
16	g.89919693C=	CA2242009539	MC1R	c.435C= (p.Ser145=)
16	g.89919693C>G	CA497380689	MC1R	c.435C>G (p.Ser145=)
16	g.89919693C>T	CA286607468	MC1R	c.435C>T (p.Ser145=)	dbSNP gnomAD v4
16	g.89919694_89919696del	CA980491112	MC1R	c.436_438del (p.Ile146del)	dbSNP gnomAD v3 gnomAD v4
16	g.89919694A>C	CA397460770	MC1R	c.436A>C (p.Ile146Leu)	gnomAD v4
16	g.89919694A>G	CA397460773	MC1R	c.436A>G (p.Ile146Val)	gnomAD v4
16	g.89919694A>T	CA397460775	MC1R	c.436A>T (p.Ile146Phe)
16	g.89919694_89919697delinsATCT	CA2242009540	MC1R	c.436_439delinsATCT (p.Ile146=)
16	g.89919695T>A	CA397460778	MC1R	c.437T>A (p.Ile146Asn)
16	g.89919695T>C	CA397460781	MC1R	c.437T>C (p.Ile146Thr)
16	g.89919695T>G	CA397460783	MC1R	c.437T>G (p.Ile146Ser)
16	g.89919695_89919696delinsTC	CA2242009541	MC1R	c.437_438delinsTC (p.Ile146=)
16	g.89919698_89919700del	CA624455295	MC1R	c.440_442del (p.Phe147del)	ClinVar dbSNP gnomAD v2
16	g.89919696del	CA624455297	MC1R	c.438del (p.Phe147SerfsTer10)	dbSNP gnomAD v2 gnomAD v4
16	g.89919696C>A	CA497380693	MC1R	c.438C>A (p.Ile146=)	gnomAD v4
16	g.89919696C=	CA2242009542	MC1R	c.438C= (p.Ile146=)
16	g.89919696C>G	CA8255591	MC1R	c.438C>G (p.Ile146Met)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.89919696C>T	CA497380696	MC1R	c.438C>T (p.Ile146=)	ClinVar
16	g.89919697T>A	CA397460791	MC1R	c.439T>A (p.Phe147Ile)	gnomAD v4
16	g.89919697T>C	CA397460786	MC1R	c.439T>C (p.Phe147Leu)	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.89919697T>G	CA397460789	MC1R	c.439T>G (p.Phe147Val)	gnomAD v4
16	g.89919697T=	CA2242009543	MC1R	c.439T= (p.Phe147=)
16	g.89919698T>A	CA397460793	MC1R	c.440T>A (p.Phe147Tyr)
16	g.89919698T>C	CA397460794	MC1R	c.440T>C (p.Phe147Ser)	dbSNP gnomAD v2 gnomAD v4
16	g.89919698T>G	CA397460796	MC1R	c.440T>G (p.Phe147Cys)
16	g.89919698T=	CA2242009544	MC1R	c.440T= (p.Phe147=)
16	g.89919699C>A	CA397460799	MC1R	c.441C>A (p.Phe147Leu)
16	g.89919699C>G	CA397460802	MC1R	c.441C>G (p.Phe147Leu)
16	g.89919699C>T	CA497380703	MC1R	c.441C>T (p.Phe147=)
16	g.89919700T>A	CA397460806	MC1R	c.442T>A (p.Tyr148Asn)
16	g.89919700T>C	CA397460808	MC1R	c.442T>C (p.Tyr148His)	dbSNP gnomAD v2 gnomAD v4
16	g.89919700T>G	CA397460811	MC1R	c.442T>G (p.Tyr148Asp)
16	g.89919700T=	CA2242009545	MC1R	c.442T= (p.Tyr148=)
16	g.89919701A=	CA2242009546	MC1R	c.443A= (p.Tyr148=)
16	g.89919701A>C	CA397460814	MC1R	c.443A>C (p.Tyr148Ser)
16	g.89919701A>G	CA397460817	MC1R	c.443A>G (p.Tyr148Cys)	dbSNP gnomAD v3 gnomAD v4
16	g.89919701A>T	CA397460819	MC1R	c.443A>T (p.Tyr148Phe)
16	g.89919701_89919702insG	CA2242009547	MC1R	c.443_444insG (p.Tyr148Ter)	dbSNP

Number of alleles fetched