Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.25161487C>A	CA346067150	POMC	c.398G>T (p.Arg133Leu)
2	g.25161487C=	CA1239227578	POMC	c.398G= (p.Arg133=)
2	g.25161487C>G	CA346067151	POMC	c.398G>C (p.Arg133Pro)	dbSNP gnomAD v4
2	g.25161487C>T	CA346067152	POMC	c.398G>A (p.Arg133His)	dbSNP gnomAD v2 gnomAD v4
2	g.25161488G>A	CA346067155	POMC	c.397C>T (p.Arg133Cys)	COSMIC
2	g.25161488G>C	CA346067154	POMC	c.397C>G (p.Arg133Gly)
2	g.25161488G>T	CA346067153	POMC	c.397C>A (p.Arg133Ser)
2	g.25161489C>A	CA425353408	POMC	c.396G>T (p.Pro132=)
2	g.25161489C>G	CA425353409	POMC	c.396G>C (p.Pro132=)	gnomAD v4
2	g.25161489C>T	CA425353411	POMC	c.396G>A (p.Pro132=)	gnomAD v4
2	g.25161489_25161491delinsCGG	CA1239227583	POMC	c.394_396delinsCCG (p.Pro132=)
2	g.25161490G>A	CA43684703	POMC	c.395C>T (p.Pro132Leu)	dbSNP gnomAD v2 gnomAD v4 COSMIC
2	g.25161490G>C	CA346067156	POMC	c.395C>G (p.Pro132Arg)
2	g.25161490G=	CA1239227587	POMC	c.395C= (p.Pro132=)
2	g.25161490G>T	CA346067157	POMC	c.395C>A (p.Pro132Gln)	gnomAD v4
2	g.25161492del	CA2658163197	POMC	c.395del (p.Pro132ArgfsTer26)	gnomAD v4
2	g.25161491_25161492del	CA43684708	POMC	c.394_395del (p.Pro132AlafsTer30)	dbSNP gnomAD v3 gnomAD v4
2	g.25161491G>A	CA346067158	POMC	c.394C>T (p.Pro132Ser)
2	g.25161491G>C	CA1555306	POMC	c.394C>G (p.Pro132Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161491G=	CA1239227593	POMC	c.394C= (p.Pro132=)
2	g.25161491G>T	CA346067159	POMC	c.394C>A (p.Pro132Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161492G>A	CA425353421	POMC	c.393C>T (p.Gly131=)	gnomAD v4
2	g.25161492G>C	CA425353419	POMC	c.393C>G (p.Gly131=)
2	g.25161492G=	CA1239227601	POMC	c.393C= (p.Gly131=)
2	g.25161492G>T	CA43684714	POMC	c.393C>A (p.Gly131=)	dbSNP gnomAD v4
2	g.25161493C>A	CA346067160	POMC	c.392G>T (p.Gly131Val)	gnomAD v4
2	g.25161493C=	CA1239227605	POMC	c.392G= (p.Gly131=)
2	g.25161493C>G	CA346067161	POMC	c.392G>C (p.Gly131Ala)
2	g.25161493C>T	CA346067162	POMC	c.392G>A (p.Gly131Asp)	dbSNP gnomAD v2 gnomAD v4
2	g.25161494C>A	CA346067163	POMC	c.391G>T (p.Gly131Cys)
2	g.25161494C=	CA1239227609	POMC	c.391G= (p.Gly131=)
2	g.25161494C>G	CA346067164	POMC	c.391G>C (p.Gly131Arg)
2	g.25161494C>T	CA346067165	POMC	c.391G>A (p.Gly131Ser)	dbSNP gnomAD v2 gnomAD v4
2	g.25161495C>A	CA425353427	POMC	c.390G>T (p.Pro130=)
2	g.25161495C=	CA1239227612	POMC	c.390G= (p.Pro130=)
2	g.25161495C>G	CA425353428	POMC	c.390G>C (p.Pro130=)
2	g.25161495C>T	CA43684718	POMC	c.390G>A (p.Pro130=)	dbSNP gnomAD v4
2	g.25161496G>A	CA346067168	POMC	c.389C>T (p.Pro130Leu)	ClinVar dbSNP
2	g.25161496G>C	CA346067166	POMC	c.389C>G (p.Pro130Arg)
2	g.25161496G=	CA1239227615	POMC	c.389C= (p.Pro130=)
2	g.25161496G>T	CA346067167	POMC	c.389C>A (p.Pro130Gln)	gnomAD v4
2	g.25161497del	CA2658163198	POMC	c.389del (p.Pro130ArgfsTer28)	gnomAD v4
2	g.25161497G>A	CA346067169	POMC	c.388C>T (p.Pro130Ser)	gnomAD v4
2	g.25161497G>C	CA346067170	POMC	c.388C>G (p.Pro130Ala)	dbSNP
2	g.25161497G=	CA1239227618	POMC	c.388C= (p.Pro130=)
2	g.25161497G>T	CA346067171	POMC	c.388C>A (p.Pro130Thr)	gnomAD v4
2	g.25161498C>A	CA346067172	POMC	c.387G>T (p.Lys129Asn)
2	g.25161498C>G	CA346067173	POMC	c.387G>C (p.Lys129Asn)
2	g.25161498C>T	CA425353438	POMC	c.387G>A (p.Lys129=)	COSMIC
2	g.25161499T>A	CA346067174	POMC	c.386A>T (p.Lys129Met)

Number of alleles fetched