Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.25161263T>A	CA346066408	POMC	c.622A>T (p.Ser208Cys)
2	g.25161263T>C	CA346066407	POMC	c.622A>G (p.Ser208Gly)
2	g.25161263T>G	CA346066406	POMC	c.622A>C (p.Ser208Arg)
2	g.25161264G>A	CA425353439	POMC	c.621C>T (p.His207=)	gnomAD v4
2	g.25161264G>C	CA1555255	POMC	c.621C>G (p.His207Gln)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161264G=	CA1239227215	POMC	c.621C= (p.His207=)
2	g.25161264G>T	CA346066409	POMC	c.621C>A (p.His207Gln)
2	g.25161264_25161287delinsGTGCTCCAGGTCGGCCTGGGCCCC	CA1239227216	POMC	c.598_621delinsGGGGCCCAGGCCGACCTGGAGCAC (p.Gly200=)
2	g.25161265T>A	CA346066410	POMC	c.620A>T (p.His207Leu)	gnomAD v4
2	g.25161265T>C	CA346066411	POMC	c.620A>G (p.His207Arg)
2	g.25161265T>G	CA346066412	POMC	c.620A>C (p.His207Pro)
2	g.25161268_25161290del	CA1555256	POMC	c.598_620del (p.Gly200GlnfsTer?)	dbSNP ExAC gnomAD v4
2	g.25161266G>A	CA346066413	POMC	c.619C>T (p.His207Tyr)	dbSNP gnomAD v2 gnomAD v4
2	g.25161266G>C	CA346066415	POMC	c.619C>G (p.His207Asp)
2	g.25161266G=	CA1239227222	POMC	c.619C= (p.His207=)
2	g.25161266G>T	CA346066414	POMC	c.619C>A (p.His207Asn)
2	g.25161267C>A	CA346066416	POMC	c.618G>T (p.Glu206Asp)
2	g.25161267C=	CA1239227226	POMC	c.618G= (p.Glu206=)
2	g.25161267C>G	CA346066417	POMC	c.618G>C (p.Glu206Asp)
2	g.25161267C>T	CA1555257	POMC	c.618G>A (p.Glu206=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.25161268T>A	CA346066418	POMC	c.617A>T (p.Glu206Val)
2	g.25161268T>C	CA346066419	POMC	c.617A>G (p.Glu206Gly)
2	g.25161268T>G	CA346066420	POMC	c.617A>C (p.Glu206Ala)
2	g.25161269C>A	CA1555258	POMC	c.616G>T (p.Glu206Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161269C=	CA1239227234	POMC	c.616G= (p.Glu206=)
2	g.25161269C>G	CA346066421	POMC	c.616G>C (p.Glu206Gln)
2	g.25161269C>T	CA346066422	POMC	c.616G>A (p.Glu206Lys)
2	g.25161269_25161280delinsACACGTCGGCCTGGGCCC	CA2586968730	POMC	c.605_616delinsGGGCCCAGGCCGACGTGT (p.Gln202ArgfsTer7)
2	g.25161270C>A	CA425353459	POMC	c.615G>T (p.Leu205=)
2	g.25161270C>G	CA425353462	POMC	c.615G>C (p.Leu205=)
2	g.25161270C>T	CA425353463	POMC	c.615G>A (p.Leu205=)	gnomAD v4
2	g.25161271A=	CA1239227239	POMC	c.614T= (p.Leu205=)
2	g.25161271A>C	CA346066423	POMC	c.614T>G (p.Leu205Arg)
2	g.25161271A>G	CA346066424	POMC	c.614T>C (p.Leu205Pro)
2	g.25161271A>T	CA346066425	POMC	c.614T>A (p.Leu205Gln)	dbSNP gnomAD v2 gnomAD v4
2	g.25161272G>A	CA425353464	POMC	c.613C>T (p.Leu205=)
2	g.25161272G>C	CA346066426	POMC	c.613C>G (p.Leu205Val)
2	g.25161272G>T	CA346066427	POMC	c.613C>A (p.Leu205Met)
2	g.25161273G>A	CA425353468	POMC	c.612C>T (p.Asp204=)	dbSNP gnomAD v2 gnomAD v4
2	g.25161273G>C	CA346066428	POMC	c.612C>G (p.Asp204Glu)
2	g.25161273G=	CA1239227241	POMC	c.612C= (p.Asp204=)
2	g.25161273G>T	CA346066429	POMC	c.612C>A (p.Asp204Glu)
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

Number of alleles fetched