Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.25161264_25161287delinsGTGCTCCAGGTCGGCCTGGGCCCC	CA1239227216	POMC	c.598_621delinsGGGGCCCAGGCCGACCTGGAGCAC (p.Gly200=)
2	g.25161268_25161290del	CA1555256	POMC	c.598_620del (p.Gly200GlnfsTer?)	dbSNP ExAC gnomAD v4
2	g.25161269_25161280delinsACACGTCGGCCTGGGCCC	CA2586968730	POMC	c.605_616delinsGGGCCCAGGCCGACGTGT (p.Gln202ArgfsTer7)
2	g.25161274T>A	CA346066430	POMC	c.611A>T (p.Asp204Val)
2	g.25161274T>C	CA346066431	POMC	c.611A>G (p.Asp204Gly)	dbSNP gnomAD v2 gnomAD v4
2	g.25161274T>G	CA346066432	POMC	c.611A>C (p.Asp204Ala)
2	g.25161274T=	CA1239227243	POMC	c.611A= (p.Asp204=)
2	g.25161275C>A	CA346066433	POMC	c.610G>T (p.Asp204Tyr)	gnomAD v4
2	g.25161275C>G	CA346066434	POMC	c.610G>C (p.Asp204His)
2	g.25161275C>T	CA346066435	POMC	c.610G>A (p.Asp204Asn)	gnomAD v4 COSMIC
2	g.25161276G>A	CA425353478	POMC	c.609C>T (p.Ala203=)	COSMIC
2	g.25161276G>C	CA425353482	POMC	c.609C>G (p.Ala203=)	gnomAD v4
2	g.25161276G>T	CA425353476	POMC	c.609C>A (p.Ala203=)
2	g.25161277G>A	CA346066436	POMC	c.608C>T (p.Ala203Val)	gnomAD v4
2	g.25161277G>C	CA346066437	POMC	c.608C>G (p.Ala203Gly)
2	g.25161277G>T	CA346066438	POMC	c.608C>A (p.Ala203Asp)
2	g.25161278C>A	CA346066439	POMC	c.607G>T (p.Ala203Ser)
2	g.25161278C>G	CA346066440	POMC	c.607G>C (p.Ala203Pro)
2	g.25161278C>T	CA346066441	POMC	c.607G>A (p.Ala203Thr)
2	g.25161279C>A	CA346066443	POMC	c.606G>T (p.Gln202His)
2	g.25161279C=	CA1239227245	POMC	c.606G= (p.Gln202=)
2	g.25161279C>G	CA346066442	POMC	c.606G>C (p.Gln202His)
2	g.25161279C>T	CA1555259	POMC	c.606G>A (p.Gln202=)	dbSNP ExAC gnomAD v2
2	g.25161280T>A	CA346066444	POMC	c.605A>T (p.Gln202Leu)
2	g.25161280T>C	CA346066445	POMC	c.605A>G (p.Gln202Arg)	dbSNP gnomAD v3 gnomAD v4
2	g.25161280T>G	CA346066446	POMC	c.605A>C (p.Gln202Pro)	gnomAD v4
2	g.25161280T=	CA1239227249	POMC	c.605A= (p.Gln202=)
2	g.25161281G>A	CA43684476	POMC	c.604C>T (p.Gln202Ter)	dbSNP gnomAD v4
2	g.25161281G>C	CA346066447	POMC	c.604C>G (p.Gln202Glu)	gnomAD v4
2	g.25161281G=	CA1239227258	POMC	c.604C= (p.Gln202=)
2	g.25161281G>T	CA346066448	POMC	c.604C>A (p.Gln202Lys)
2	g.25161281_25161286dup	CA1555260	POMC	c.599_604dup (p.Ala201_Gln202insArgAla)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161282G>A	CA425353490	POMC	c.603C>T (p.Ala201=)
2	g.25161282G>C	CA425353491	POMC	c.603C>G (p.Ala201=)
2	g.25161282G>T	CA425353492	POMC	c.603C>A (p.Ala201=)
2	g.25161283G>A	CA1555261	POMC	c.602C>T (p.Ala201Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161283G>C	CA346066449	POMC	c.602C>G (p.Ala201Gly)
2	g.25161283G=	CA1239227262	POMC	c.602C= (p.Ala201=)
2	g.25161283G>T	CA346066450	POMC	c.602C>A (p.Ala201Asp)	dbSNP gnomAD v4
2	g.25161284C>A	CA346066451	POMC	c.601G>T (p.Ala201Ser)
2	g.25161284C=	CA1239227264	POMC	c.601G= (p.Ala201=)
2	g.25161284C>G	CA346066452	POMC	c.601G>C (p.Ala201Pro)	gnomAD v4
2	g.25161284C>T	CA1555262	POMC	c.601G>A (p.Ala201Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.25161287del	CA2658163192	POMC	c.601del (p.Ala201ProfsTer?)	gnomAD v4
2	g.25161285C>A	CA425353497	POMC	c.600G>T (p.Gly200=)
2	g.25161285C>G	CA425353498	POMC	c.600G>C (p.Gly200=)
2	g.25161285C>T	CA425353499	POMC	c.600G>A (p.Gly200=)	COSMIC
2	g.25161286C>A	CA346066453	POMC	c.599G>T (p.Gly200Val)	ClinVar gnomAD v4
2	g.25161286C>G	CA346066455	POMC	c.599G>C (p.Gly200Ala)	gnomAD v4
2	g.25161286C>T	CA346066454	POMC	c.599G>A (p.Gly200Glu)	ClinVar

Number of alleles fetched