Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.25164683C>A	CA346067806	POMC	c.90G>T (p.Glu30Asp)
2	g.25164683C=	CA1239231616	POMC	c.90G= (p.Glu30=)
2	g.25164683C>G	CA1555407	POMC	c.90G>C (p.Glu30Asp)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25164683C>T	CA425180702	POMC	c.90G>A (p.Glu30=)	gnomAD v4
2	g.25164684T>A	CA346067807	POMC	c.89A>T (p.Glu30Val)
2	g.25164684T>C	CA346067808	POMC	c.89A>G (p.Glu30Gly)
2	g.25164684T>G	CA346067809	POMC	c.89A>C (p.Glu30Ala)
2	g.25164685C>A	CA346067810	POMC	c.88G>T (p.Glu30Ter)
2	g.25164685C=	CA1239231619	POMC	c.88G= (p.Glu30=)
2	g.25164685C>G	CA346067811	POMC	c.88G>C (p.Glu30Gln)	dbSNP gnomAD v3 gnomAD v4
2	g.25164685C>T	CA346067812	POMC	c.88G>A (p.Glu30Lys)
2	g.25164686C>A	CA425180703	POMC	c.87G>T (p.Leu29=)
2	g.25164686C=	CA1239231623	POMC	c.87G= (p.Leu29=)
2	g.25164686C>G	CA425180704	POMC	c.87G>C (p.Leu29=)
2	g.25164686C>T	CA425180705	POMC	c.87G>A (p.Leu29=)	dbSNP gnomAD v2 gnomAD v4
2	g.25164687A=	CA1239231628	POMC	c.86T= (p.Leu29=)
2	g.25164687A>C	CA346067814	POMC	c.86T>G (p.Leu29Arg)	dbSNP
2	g.25164687A>G	CA346067815	POMC	c.86T>C (p.Leu29Pro)	gnomAD v4
2	g.25164687A>T	CA346067813	POMC	c.86T>A (p.Leu29Gln)
2	g.25164688G>A	CA425180706	POMC	c.85C>T (p.Leu29=)
2	g.25164688G>C	CA346067816	POMC	c.85C>G (p.Leu29Val)
2	g.25164688G>T	CA346067817	POMC	c.85C>A (p.Leu29Met)
2	g.25164689G>A	CA425180707	POMC	c.84C>T (p.Cys28=)
2	g.25164689G>C	CA346067818	POMC	c.84C>G (p.Cys28Trp)
2	g.25164689G=	CA1239231635	POMC	c.84C= (p.Cys28=)
2	g.25164689G>T	CA346067819	POMC	c.84C>A (p.Cys28Ter)	ClinVar dbSNP
2	g.25164690C>A	CA1555408	POMC	c.83G>T (p.Cys28Phe)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25164690C=	CA1239231641	POMC	c.83G= (p.Cys28=)
2	g.25164690C>G	CA346067821	POMC	c.83G>C (p.Cys28Ser)
2	g.25164690C>T	CA346067820	POMC	c.83G>A (p.Cys28Tyr)	dbSNP gnomAD v2 gnomAD v4
2	g.25164690_25164692delinsGT	CA2586968735	POMC	c.81_83delinsAC (p.Trp27Ter)
2	g.25164691A=	CA1239231650	POMC	c.82T= (p.Cys28=)
2	g.25164691A>C	CA346067822	POMC	c.82T>G (p.Cys28Gly)	dbSNP gnomAD v2 gnomAD v4
2	g.25164691A>G	CA346067823	POMC	c.82T>C (p.Cys28Arg)
2	g.25164691A>T	CA346067824	POMC	c.82T>A (p.Cys28Ser)
2	g.25164691_25164695delinsACCAG	CA1239231652	POMC	c.78_82delinsCTGGT (p.Gly26=)
2	g.25164692C>A	CA346067825	POMC	c.81G>T (p.Trp27Cys)
2	g.25164692C>G	CA346067826	POMC	c.81G>C (p.Trp27Cys)	gnomAD v4
2	g.25164692C>T	CA346067827	POMC	c.81G>A (p.Trp27Ter)	COSMIC
2	g.25164695_25164698del	CA1555409	POMC	c.78_81del (p.Trp27AlafsTer?)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.25164693C>A	CA346067830	POMC	c.80G>T (p.Trp27Leu)
2	g.25164693C=	CA1239231663	POMC	c.80G= (p.Trp27=)
2	g.25164693C>G	CA346067829	POMC	c.80G>C (p.Trp27Ser)
2	g.25164693C>T	CA346067828	POMC	c.80G>A (p.Trp27Ter)	dbSNP gnomAD v3 gnomAD v4
2	g.25164694A>C	CA346067832	POMC	c.79T>G (p.Trp27Gly)
2	g.25164694A>G	CA346067831	POMC	c.79T>C (p.Trp27Arg)
2	g.25164694A>T	CA346067833	POMC	c.79T>A (p.Trp27Arg)
2	g.25164695G>A	CA425180708	POMC	c.78C>T (p.Gly26=)	gnomAD v4
2	g.25164695G>C	CA425180709	POMC	c.78C>G (p.Gly26=)
2	g.25164695G=	CA1239231667	POMC	c.78C= (p.Gly26=)

Number of alleles fetched