Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.25161255C>A	CA425353417	POMC	c.630G>T (p.Leu210=)
2	g.25161255C>G	CA425353416	POMC	c.630G>C (p.Leu210=)
2	g.25161255C>T	CA425353414	POMC	c.630G>A (p.Leu210=)
2	g.25161256A=	CA1239227201	POMC	c.629T= (p.Leu210=)
2	g.25161256A>C	CA346066392	POMC	c.629T>G (p.Leu210Arg)
2	g.25161256A>G	CA346066393	POMC	c.629T>C (p.Leu210Pro)	dbSNP gnomAD v4
2	g.25161256A>T	CA346066394	POMC	c.629T>A (p.Leu210Gln)
2	g.25161257G>A	CA425353418	POMC	c.628C>T (p.Leu210=)
2	g.25161257G>C	CA346066395	POMC	c.628C>G (p.Leu210Val)	dbSNP
2	g.25161257G>T	CA346066396	POMC	c.628C>A (p.Leu210Met)	gnomAD v4
2	g.25161258C>A	CA425353420	POMC	c.627G>T (p.Leu209=)
2	g.25161258C>G	CA425353422	POMC	c.627G>C (p.Leu209=)
2	g.25161258C>T	CA425353424	POMC	c.627G>A (p.Leu209=)	gnomAD v4
2	g.25161259A=	CA1239227204	POMC	c.626T= (p.Leu209=)
2	g.25161259A>C	CA346066398	POMC	c.626T>G (p.Leu209Arg)
2	g.25161259A>G	CA1555254	POMC	c.626T>C (p.Leu209Pro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161259A>T	CA346066397	POMC	c.626T>A (p.Leu209Gln)	dbSNP gnomAD v2 gnomAD v4
2	g.25161260G>A	CA425353429	POMC	c.625C>T (p.Leu209=)	gnomAD v4
2	g.25161260G>C	CA346066400	POMC	c.625C>G (p.Leu209Val)	gnomAD v4
2	g.25161260G>T	CA346066399	POMC	c.625C>A (p.Leu209Met)	gnomAD v4
2	g.25161261G>A	CA425353434	POMC	c.624C>T (p.Ser208=)	dbSNP gnomAD v2 gnomAD v4
2	g.25161261G>C	CA346066401	POMC	c.624C>G (p.Ser208Arg)	dbSNP
2	g.25161261G=	CA1239227211	POMC	c.624C= (p.Ser208=)
2	g.25161261G>T	CA346066402	POMC	c.624C>A (p.Ser208Arg)	dbSNP gnomAD v4
2	g.25161262C>A	CA346066403	POMC	c.623G>T (p.Ser208Ile)
2	g.25161262C=	CA1239227213	POMC	c.623G= (p.Ser208=)
2	g.25161262C>G	CA346066404	POMC	c.623G>C (p.Ser208Thr)
2	g.25161262C>T	CA346066405	POMC	c.623G>A (p.Ser208Asn)	dbSNP gnomAD v3 gnomAD v4
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)

Number of alleles fetched