Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.25161373G>A	CA346066868	POMC	c.512C>T (p.Ala171Val)	gnomAD v4
2	g.25161373G>C	CA43684581	POMC	c.512C>G (p.Ala171Gly)	dbSNP gnomAD v3 gnomAD v4
2	g.25161373G=	CA1239227420	POMC	c.512C= (p.Ala171=)
2	g.25161373G>T	CA346066871	POMC	c.512C>A (p.Ala171Asp)	gnomAD v4
2	g.25161374C>A	CA1555286	POMC	c.511G>T (p.Ala171Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.25161374C=	CA1239227423	POMC	c.511G= (p.Ala171=)
2	g.25161374C>G	CA346066875	POMC	c.511G>C (p.Ala171Pro)
2	g.25161374C>T	CA346066874	POMC	c.511G>A (p.Ala171Thr)	dbSNP gnomAD v3 gnomAD v4
2	g.25161375C>A	CA346066880	POMC	c.510G>T (p.Glu170Asp)
2	g.25161375C=	CA1239227429	POMC	c.510G= (p.Glu170=)
2	g.25161375C>G	CA346066881	POMC	c.510G>C (p.Glu170Asp)
2	g.25161375C>T	CA425352967	POMC	c.510G>A (p.Glu170=)	dbSNP gnomAD v2 gnomAD v4
2	g.25161376T>A	CA346066884	POMC	c.509A>T (p.Glu170Val)	gnomAD v4
2	g.25161376T>C	CA1555287	POMC	c.509A>G (p.Glu170Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.25161376T>G	CA346066887	POMC	c.509A>C (p.Glu170Ala)	dbSNP
2	g.25161376T=	CA1239227436	POMC	c.509A= (p.Glu170=)
2	g.25161377C>A	CA346066889	POMC	c.508G>T (p.Glu170Ter)
2	g.25161377C>G	CA346066891	POMC	c.508G>C (p.Glu170Gln)
2	g.25161377C>T	CA346066893	POMC	c.508G>A (p.Glu170Lys)	COSMIC
2	g.25161378G>A	CA425352977	POMC	c.507C>T (p.Ala169=)	dbSNP gnomAD v4
2	g.25161378G>C	CA425352980	POMC	c.507C>G (p.Ala169=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161378G=	CA1239227438	POMC	c.507C= (p.Ala169=)
2	g.25161378G>T	CA425352979	POMC	c.507C>A (p.Ala169=)	gnomAD v4
2	g.25161379G>A	CA346066896	POMC	c.506C>T (p.Ala169Val)	dbSNP
2	g.25161379G>C	CA346066898	POMC	c.506C>G (p.Ala169Gly)
2	g.25161379G=	CA1239227441	POMC	c.506C= (p.Ala169=)
2	g.25161379G>T	CA346066900	POMC	c.506C>A (p.Ala169Asp)
2	g.25161380C>A	CA346066905	POMC	c.505G>T (p.Ala169Ser)
2	g.25161380C>G	CA346066907	POMC	c.505G>C (p.Ala169Pro)
2	g.25161380C>T	CA346066908	POMC	c.505G>A (p.Ala169Thr)
2	g.25161381C>A	CA425352987	POMC	c.504G>T (p.Ser168=)
2	g.25161381C=	CA1239227443	POMC	c.504G= (p.Ser168=)
2	g.25161381C>G	CA43684604	POMC	c.504G>C (p.Ser168=)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.25161381C>T	CA425352988	POMC	c.504G>A (p.Ser168=)
2	g.25161382G>A	CA1555288	POMC	c.503C>T (p.Ser168Leu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161382G>C	CA346066914	POMC	c.503C>G (p.Ser168Trp)
2	g.25161382G=	CA1239227445	POMC	c.503C= (p.Ser168=)
2	g.25161382G>T	CA346066911	POMC	c.503C>A (p.Ser168Ter)	gnomAD v4
2	g.25161383A=	CA1239227451	POMC	c.502T= (p.Ser168=)
2	g.25161383A>C	CA346066917	POMC	c.502T>G (p.Ser168Ala)
2	g.25161383A>G	CA346066918	POMC	c.502T>C (p.Ser168Pro)	dbSNP gnomAD v2 gnomAD v4
2	g.25161383A>T	CA346066919	POMC	c.502T>A (p.Ser168Thr)
2	g.25161384C>A	CA346066920	POMC	c.501G>T (p.Glu167Asp)
2	g.25161384C=	CA1239227456	POMC	c.501G= (p.Glu167=)
2	g.25161384C>G	CA346066921	POMC	c.501G>C (p.Glu167Asp)
2	g.25161384C>T	CA425352996	POMC	c.501G>A (p.Glu167=)	dbSNP gnomAD v2
2	g.25161385T>A	CA346066924	POMC	c.500A>T (p.Glu167Val)
2	g.25161385T>C	CA346066923	POMC	c.500A>G (p.Glu167Gly)
2	g.25161385T>G	CA346066922	POMC	c.500A>C (p.Glu167Ala)
2	g.25161386C>A	CA346066925	POMC	c.499G>T (p.Glu167Ter)	ClinVar dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched