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.25161281_25161286dup	CA1555260	POMC	c.599_604dup (p.Ala201_Gln202insArgAla)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161287del	CA2658163192	POMC	c.601del (p.Ala201ProfsTer?)	gnomAD v4
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
2	g.25161286_25161287insGGGCAC	CA2699006668	POMC	c.599_600insTGCCCG (p.Gly200_Ala201insAlaArg)	dbSNP
2	g.25161286_25161287insGGGCCG	CA2699006711	POMC	c.598_599insCGGCCC (p.Gly200delinsAlaAlaArg)	dbSNP
2	g.25161287C>A	CA346066456	POMC	c.598G>T (p.Gly200Trp)
2	g.25161287C=	CA1239227267	POMC	c.598G= (p.Gly200=)
2	g.25161287C>G	CA346066457	POMC	c.598G>C (p.Gly200Arg)
2	g.25161287C>T	CA1555263	POMC	c.598G>A (p.Gly200Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.25161288T>A	CA425353503	POMC	c.597A>T (p.Ala199=)
2	g.25161288T>C	CA425353504	POMC	c.597A>G (p.Ala199=)	gnomAD v4
2	g.25161288T>G	CA425353505	POMC	c.597A>C (p.Ala199=)	dbSNP
2	g.25161289G>A	CA346066458	POMC	c.596C>T (p.Ala199Val)
2	g.25161289G>C	CA346066459	POMC	c.596C>G (p.Ala199Gly)	gnomAD v4
2	g.25161289G>T	CA346066460	POMC	c.596C>A (p.Ala199Glu)
2	g.25161290C>A	CA346066461	POMC	c.595G>T (p.Ala199Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161290C=	CA1239227269	POMC	c.595G= (p.Ala199=)
2	g.25161290C>G	CA346066462	POMC	c.595G>C (p.Ala199Pro)
2	g.25161290C>T	CA346066463	POMC	c.595G>A (p.Ala199Thr)
2	g.25161291G>A	CA1555264	POMC	c.594C>T (p.Gly198=)	dbSNP ExAC gnomAD v4
2	g.25161291G>C	CA425353507	POMC	c.594C>G (p.Gly198=)
2	g.25161291G=	CA1239227271	POMC	c.594C= (p.Gly198=)
2	g.25161291G>T	CA425353508	POMC	c.594C>A (p.Gly198=)
2	g.25161292C>A	CA346066464	POMC	c.593G>T (p.Gly198Val)
2	g.25161292C>G	CA346066465	POMC	c.593G>C (p.Gly198Ala)
2	g.25161292C>T	CA346066467	POMC	c.593G>A (p.Gly198Asp)
2	g.25161293C>A	CA346066474	POMC	c.592G>T (p.Gly198Cys)	COSMIC
2	g.25161293C>G	CA346066471	POMC	c.592G>C (p.Gly198Arg)
2	g.25161293C>T	CA346066470	POMC	c.592G>A (p.Gly198Ser)	gnomAD v4
2	g.25161294G>A	CA1555265	POMC	c.591C>T (p.Asp197=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161294G>C	CA346066478	POMC	c.591C>G (p.Asp197Glu)
2	g.25161294G=	CA1239227275	POMC	c.591C= (p.Asp197=)
2	g.25161294G>T	CA346066480	POMC	c.591C>A (p.Asp197Glu)	gnomAD v4
2	g.25161295T>A	CA346066483	POMC	c.590A>T (p.Asp197Val)
2	g.25161295T>C	CA346066485	POMC	c.590A>G (p.Asp197Gly)
2	g.25161295T>G	CA346066487	POMC	c.590A>C (p.Asp197Ala)
2	g.25161296C>A	CA346066490	POMC	c.589G>T (p.Asp197Tyr)	dbSNP
2	g.25161296C=	CA1239227279	POMC	c.589G= (p.Asp197=)
2	g.25161296C>G	CA346066492	POMC	c.589G>C (p.Asp197His)
2	g.25161296C>T	CA346066493	POMC	c.589G>A (p.Asp197Asn)
2	g.25161297A>C	CA346066495	POMC	c.588T>G (p.Asp196Glu)	dbSNP
2	g.25161297A>G	CA425353517	POMC	c.588T>C (p.Asp196=)	gnomAD v4
2	g.25161297A>T	CA346066497	POMC	c.588T>A (p.Asp196Glu)
2	g.25161298T>A	CA346066499	POMC	c.587A>T (p.Asp196Val)
2	g.25161298T>C	CA346066502	POMC	c.587A>G (p.Asp196Gly)
2	g.25161298T>G	CA346066504	POMC	c.587A>C (p.Asp196Ala)

Number of alleles fetched