Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.25161369del	CA2749203939	POMC	c.520del (p.Leu174TrpfsTer7)
2	g.25161368G>A	CA346066855	POMC	c.517C>T (p.Pro173Ser)	dbSNP gnomAD v2 gnomAD v4
2	g.25161368G>C	CA346066851	POMC	c.517C>G (p.Pro173Ala)
2	g.25161368G=	CA1239227410	POMC	c.517C= (p.Pro173=)
2	g.25161368G>T	CA346066853	POMC	c.517C>A (p.Pro173Thr)
2	g.25161369G>A	CA1555284	POMC	c.516C>T (p.Phe172=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.25161369G>C	CA346066859	POMC	c.516C>G (p.Phe172Leu)
2	g.25161369G=	CA1239227415	POMC	c.516C= (p.Phe172=)
2	g.25161369G>T	CA1555285	POMC	c.516C>A (p.Phe172Leu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161370A>C	CA346066861	POMC	c.515T>G (p.Phe172Cys)
2	g.25161370A>G	CA346066862	POMC	c.515T>C (p.Phe172Ser)	gnomAD v4
2	g.25161370A>T	CA346066863	POMC	c.515T>A (p.Phe172Tyr)
2	g.25161371A>C	CA346066864	POMC	c.514T>G (p.Phe172Val)
2	g.25161371A>G	CA346066865	POMC	c.514T>C (p.Phe172Leu)
2	g.25161371A>T	CA346066866	POMC	c.514T>A (p.Phe172Ile)
2	g.25161372G>A	CA425352958	POMC	c.513C>T (p.Ala171=)	gnomAD v4
2	g.25161372G>C	CA425352959	POMC	c.513C>G (p.Ala171=)
2	g.25161372G>T	CA425352954	POMC	c.513C>A (p.Ala171=)
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=)

Number of alleles fetched