Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.25164721G>A	CA346067886	POMC	c.52C>T (p.Leu18Phe)
2	g.25164721G>C	CA346067887	POMC	c.52C>G (p.Leu18Val)
2	g.25164721G>T	CA346067885	POMC	c.52C>A (p.Leu18Ile)
2	g.25164722C>A	CA425180735	POMC	c.51G>T (p.Leu17=)
2	g.25164722C=	CA1239231734	POMC	c.51G= (p.Leu17=)
2	g.25164722C>G	CA425180736	POMC	c.51G>C (p.Leu17=)	dbSNP
2	g.25164722C>T	CA425180737	POMC	c.51G>A (p.Leu17=)	dbSNP gnomAD v2
2	g.25164723A>C	CA346067888	POMC	c.50T>G (p.Leu17Arg)
2	g.25164723A>G	CA346067890	POMC	c.50T>C (p.Leu17Pro)
2	g.25164723A>T	CA346067889	POMC	c.50T>A (p.Leu17Gln)
2	g.25164724G>A	CA425180739	POMC	c.49C>T (p.Leu17=)
2	g.25164724G>C	CA346067891	POMC	c.49C>G (p.Leu17Val)
2	g.25164724G>T	CA346067892	POMC	c.49C>A (p.Leu17Met)
2	g.25164724_25164725delinsGC	CA1239231739	POMC	c.48_49delinsGC (p.Leu16=)
2	g.25164725del	CA767151247	POMC	c.48del (p.Leu16PhefsTer?)	ClinVar dbSNP gnomAD v4
2	g.25164725C>A	CA346067893	POMC	c.48G>T (p.Leu16Phe)
2	g.25164725C>G	CA346067894	POMC	c.48G>C (p.Leu16Phe)
2	g.25164725C>T	CA425180740	POMC	c.48G>A (p.Leu16=)
2	g.25164726A>C	CA346067895	POMC	c.47T>G (p.Leu16Trp)
2	g.25164726A>G	CA346067896	POMC	c.47T>C (p.Leu16Ser)
2	g.25164726A>T	CA346067897	POMC	c.47T>A (p.Leu16Ter)
2	g.25164727A>C	CA346067898	POMC	c.46T>G (p.Leu16Val)
2	g.25164727A>G	CA425180742	POMC	c.46T>C (p.Leu16=)
2	g.25164727A>T	CA346067899	POMC	c.46T>A (p.Leu16Met)
2	g.25164728G>A	CA425180743	POMC	c.45C>T (p.Ala15=)	dbSNP gnomAD v3 gnomAD v4
2	g.25164728G>C	CA425180744	POMC	c.45C>G (p.Ala15=)
2	g.25164728G=	CA1239231743	POMC	c.45C= (p.Ala15=)
2	g.25164728G>T	CA425180745	POMC	c.45C>A (p.Ala15=)
2	g.25164729G>A	CA346067900	POMC	c.44C>T (p.Ala15Val)	dbSNP COSMIC
2	g.25164729G>C	CA1555416	POMC	c.44C>G (p.Ala15Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.25164729G=	CA1239231747	POMC	c.44C= (p.Ala15=)
2	g.25164729G>T	CA346067901	POMC	c.44C>A (p.Ala15Asp)
2	g.25164729_25164730insGGGC	CA1555415	POMC	c.43_44insGCCC (p.Ala15GlyfsTer?)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.25164730C>A	CA346067902	POMC	c.43G>T (p.Ala15Ser)
2	g.25164730C=	CA1239231754	POMC	c.43G= (p.Ala15=)
2	g.25164730C>G	CA346067903	POMC	c.43G>C (p.Ala15Pro)
2	g.25164730C>T	CA346067904	POMC	c.43G>A (p.Ala15Thr)	dbSNP
2	g.25164731C>A	CA425180748	POMC	c.42G>T (p.Leu14=)
2	g.25164731C>G	CA425180747	POMC	c.42G>C (p.Leu14=)
2	g.25164731C>T	CA425180749	POMC	c.42G>A (p.Leu14=)
2	g.25164732A>C	CA346067905	POMC	c.41T>G (p.Leu14Arg)
2	g.25164732A>G	CA346067907	POMC	c.41T>C (p.Leu14Pro)
2	g.25164732A>T	CA346067906	POMC	c.41T>A (p.Leu14Gln)
2	g.25164733G>A	CA425180751	POMC	c.40C>T (p.Leu14=)	dbSNP
2	g.25164733G>C	CA346067908	POMC	c.40C>G (p.Leu14Val)
2	g.25164733G=	CA1239231758	POMC	c.40C= (p.Leu14=)
2	g.25164733G>T	CA346067909	POMC	c.40C>A (p.Leu14Met)
2	g.25164734C>A	CA346067910	POMC	c.39G>T (p.Leu13Phe)
2	g.25164734C>G	CA346067911	POMC	c.39G>C (p.Leu13Phe)
2	g.25164734C>T	CA425180752	POMC	c.39G>A (p.Leu13=)

Number of alleles fetched