Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.25161384C>A	CA346066920	POMC	c.501G>T (p.Glu167Asp)
2	g.25161384C=	CA1239227456	POMC	c.501G= (p.Glu167=)
2	g.25161384C>G	CA346066921	POMC	c.501G>C (p.Glu167Asp)
2	g.25161384C>T	CA425352996	POMC	c.501G>A (p.Glu167=)	dbSNP gnomAD v2
2	g.25161385T>A	CA346066924	POMC	c.500A>T (p.Glu167Val)
2	g.25161385T>C	CA346066923	POMC	c.500A>G (p.Glu167Gly)
2	g.25161385T>G	CA346066922	POMC	c.500A>C (p.Glu167Ala)
2	g.25161386C>A	CA346066925	POMC	c.499G>T (p.Glu167Ter)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.25161386C=	CA1239227461	POMC	c.499G= (p.Glu167=)
2	g.25161386C>G	CA346066926	POMC	c.499G>C (p.Glu167Gln)	dbSNP
2	g.25161386C>T	CA346066927	POMC	c.499G>A (p.Glu167Lys)
2	g.25161387G>A	CA1555289	POMC	c.498C>T (p.Asp166=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161387G>C	CA346066928	POMC	c.498C>G (p.Asp166Glu)	dbSNP
2	g.25161387G=	CA1239227467	POMC	c.498C= (p.Asp166=)
2	g.25161387G>T	CA346066929	POMC	c.498C>A (p.Asp166Glu)
2	g.25161388T>A	CA346066930	POMC	c.497A>T (p.Asp166Val)
2	g.25161388T>C	CA346066931	POMC	c.497A>G (p.Asp166Gly)
2	g.25161388T>G	CA1555290	POMC	c.497A>C (p.Asp166Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.25161388T=	CA1239227474	POMC	c.497A= (p.Asp166=)
2	g.25161389C>A	CA346066932	POMC	c.496G>T (p.Asp166Tyr)	dbSNP gnomAD v3 gnomAD v4
2	g.25161389C=	CA1239227477	POMC	c.496G= (p.Asp166=)
2	g.25161389C>G	CA346066933	POMC	c.496G>C (p.Asp166His)
2	g.25161389C>T	CA346066934	POMC	c.496G>A (p.Asp166Asn)	gnomAD v4
2	g.25161390C>A	CA346066935	POMC	c.495G>T (p.Glu165Asp)
2	g.25161390C>G	CA346066936	POMC	c.495G>C (p.Glu165Asp)
2	g.25161390C>T	CA425353009	POMC	c.495G>A (p.Glu165=)
2	g.25161391T>A	CA346066937	POMC	c.494A>T (p.Glu165Val)	dbSNP
2	g.25161391T>C	CA346066938	POMC	c.494A>G (p.Glu165Gly)
2	g.25161391T>G	CA346066939	POMC	c.494A>C (p.Glu165Ala)
2	g.25161391T=	CA1239227481	POMC	c.494A= (p.Glu165=)
2	g.25161392C>A	CA346066940	POMC	c.493G>T (p.Glu165Ter)	gnomAD v4
2	g.25161392C=	CA1239227485	POMC	c.493G= (p.Glu165=)
2	g.25161392C>G	CA346066941	POMC	c.493G>C (p.Glu165Gln)
2	g.25161392C>T	CA346066942	POMC	c.493G>A (p.Glu165Lys)	dbSNP
2	g.25161393G>A	CA43684610	POMC	c.492C>T (p.Ala164=)	ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
2	g.25161393G>C	CA425353017	POMC	c.492C>G (p.Ala164=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161393G=	CA1239227487	POMC	c.492C= (p.Ala164=)
2	g.25161393G>T	CA425353015	POMC	c.492C>A (p.Ala164=)	gnomAD v4
2	g.25161394G>A	CA1555291	POMC	c.491C>T (p.Ala164Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161394G>C	CA346066943	POMC	c.491C>G (p.Ala164Gly)
2	g.25161394G=	CA1239227495	POMC	c.491C= (p.Ala164=)
2	g.25161394G>T	CA346066944	POMC	c.491C>A (p.Ala164Asp)	dbSNP gnomAD v2 gnomAD v4
2	g.25161395C>A	CA346066945	POMC	c.490G>T (p.Ala164Ser)	gnomAD v4
2	g.25161395C>G	CA346066946	POMC	c.490G>C (p.Ala164Pro)
2	g.25161395C>T	CA346066947	POMC	c.490G>A (p.Ala164Thr)	gnomAD v4 COSMIC
2	g.25161396G>A	CA425353021	POMC	c.489C>T (p.Gly163=)	gnomAD v4 COSMIC
2	g.25161396G>C	CA425353022	POMC	c.489C>G (p.Gly163=)
2	g.25161396G>T	CA425353023	POMC	c.489C>A (p.Gly163=)	gnomAD v4
2	g.25161397C>A	CA346066948	POMC	c.488G>T (p.Gly163Val)
2	g.25161397C=	CA1239227501	POMC	c.488G= (p.Gly163=)

Number of alleles fetched