Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.25161101_25161102insAACTCGCCCTTCTTGTAGGC	CA2658163187	POMC	c.802_803insTGCCTACAAGAAGGGCGAGT (p.Ter268LeuextTer?)	gnomAD v4
2	g.25161085T>A	CA346064741	POMC	c.800A>T (p.Glu267Val)
2	g.25161085T>C	CA346064743	POMC	c.800A>G (p.Glu267Gly)
2	g.25161085T>G	CA346064744	POMC	c.800A>C (p.Glu267Ala)
2	g.25161086C>A	CA346064748	POMC	c.799G>T (p.Glu267Ter)	COSMIC
2	g.25161086C>G	CA346064750	POMC	c.799G>C (p.Glu267Gln)
2	g.25161086C>T	CA346064753	POMC	c.799G>A (p.Glu267Lys)	gnomAD v4 COSMIC
2	g.25161086_25161098delinsCGCCCTTCTTGTA	CA1239226800	POMC	c.787_799delinsTACAAGAAGGGCG (p.Tyr263=)
2	g.25161087G>A	CA1555211	POMC	c.798C>T (p.Gly266=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2	g.25161087G>C	CA425179055	POMC	c.798C>G (p.Gly266=)
2	g.25161087G=	CA1239226805	POMC	c.798C= (p.Gly266=)
2	g.25161087G>T	CA425179056	POMC	c.798C>A (p.Gly266=)
2	g.25161088_25161099del	CA43684282	POMC	c.787_798del (p.Tyr263_Gly266del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161088C>A	CA346064759	POMC	c.797G>T (p.Gly266Val)
2	g.25161088C=	CA1239226810	POMC	c.797G= (p.Gly266=)
2	g.25161088C>G	CA346064761	POMC	c.797G>C (p.Gly266Ala)
2	g.25161088C>T	CA346064763	POMC	c.797G>A (p.Gly266Asp)	dbSNP
2	g.25161089C>A	CA346064765	POMC	c.796G>T (p.Gly266Cys)
2	g.25161089C=	CA1239226812	POMC	c.796G= (p.Gly266=)
2	g.25161089C>G	CA346064767	POMC	c.796G>C (p.Gly266Arg)
2	g.25161089C>T	CA1555212	POMC	c.796G>A (p.Gly266Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.25161089_25161090insTACAAGAAGGGC	CA531358056	POMC	c.796_797insCCCTTCTTGTAG (p.Lys265_Gly266insAlaLeuLeuVal)	dbSNP gnomAD v2 gnomAD v4
2	g.25161090C>A	CA346064770	POMC	c.795G>T (p.Lys265Asn)
2	g.25161090C=	CA1239226818	POMC	c.795G= (p.Lys265=)
2	g.25161090C>G	CA346064772	POMC	c.795G>C (p.Lys265Asn)
2	g.25161090C>T	CA1555213	POMC	c.795G>A (p.Lys265=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.25161090_25161102delinsCTTCTTGTAGGCG	CA1239226820	POMC	c.783_795delinsCGCCTACAAGAAG (p.Asn261=)
2	g.25161091T>A	CA346066008	POMC	c.794A>T (p.Lys265Met)
2	g.25161091T>C	CA346066013	POMC	c.794A>G (p.Lys265Arg)
2	g.25161091T>G	CA346066015	POMC	c.794A>C (p.Lys265Thr)
2	g.25161097_25161108del	CA531760826	POMC	c.783_794del (p.Asn261_Lys264del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161092T>A	CA346066019	POMC	c.793A>T (p.Lys265Ter)
2	g.25161092T>C	CA346066018	POMC	c.793A>G (p.Lys265Glu)
2	g.25161092T>G	CA346066017	POMC	c.793A>C (p.Lys265Gln)
2	g.25161093C>A	CA346066022	POMC	c.792G>T (p.Lys264Asn)
2	g.25161093C=	CA1239226826	POMC	c.792G= (p.Lys264=)
2	g.25161093C>G	CA346066024	POMC	c.792G>C (p.Lys264Asn)	dbSNP gnomAD v2 gnomAD v4
2	g.25161093C>T	CA425352822	POMC	c.792G>A (p.Lys264=)
2	g.25161094T>A	CA346066025	POMC	c.791A>T (p.Lys264Met)
2	g.25161094T>C	CA346066026	POMC	c.791A>G (p.Lys264Arg)	dbSNP
2	g.25161094T>G	CA346066029	POMC	c.791A>C (p.Lys264Thr)
2	g.25161094T=	CA1239226830	POMC	c.791A= (p.Lys264=)
2	g.25161095T>A	CA346066031	POMC	c.790A>T (p.Lys264Ter)
2	g.25161095T>C	CA346066033	POMC	c.790A>G (p.Lys264Glu)
2	g.25161095T>G	CA346066035	POMC	c.790A>C (p.Lys264Gln)
2	g.25161096G>A	CA425352827	POMC	c.789C>T (p.Tyr263=)
2	g.25161096G>C	CA346066036	POMC	c.789C>G (p.Tyr263Ter)	gnomAD v4
2	g.25161096G>T	CA346066038	POMC	c.789C>A (p.Tyr263Ter)
2	g.25161097T>A	CA346066040	POMC	c.788A>T (p.Tyr263Phe)
2	g.25161097T>C	CA346066041	POMC	c.788A>G (p.Tyr263Cys)	gnomAD v4

Number of alleles fetched