Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.25161734T>A	CA256772	POMC	c.151A>T (p.Lys51Ter)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.25161734T>C	CA346067666	POMC	c.151A>G (p.Lys51Glu)
2	g.25161734T>G	CA346067667	POMC	c.151A>C (p.Lys51Gln)
2	g.25161734T=	CA1239228571	POMC	c.151A= (p.Lys51=)
2	g.25161735del	CA2576693519	POMC	c.150del (p.Cys50Ter)
2	g.25161735G>A	CA425180273	POMC	c.150C>T (p.Cys50=)	gnomAD v4
2	g.25161735G>C	CA346067668	POMC	c.150C>G (p.Cys50Trp)
2	g.25161735G>T	CA346067669	POMC	c.150C>A (p.Cys50Ter)	gnomAD v4
2	g.25161736C>A	CA346067671	POMC	c.149G>T (p.Cys50Phe)	gnomAD v4
2	g.25161736C=	CA1239228581	POMC	c.149G= (p.Cys50=)
2	g.25161736C>G	CA346067670	POMC	c.149G>C (p.Cys50Ser)	dbSNP gnomAD v2 gnomAD v4
2	g.25161736C>T	CA1555373	POMC	c.149G>A (p.Cys50Tyr)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.25161737A=	CA1239228591	POMC	c.148T= (p.Cys50=)
2	g.25161737A>C	CA346067672	POMC	c.148T>G (p.Cys50Gly)	gnomAD v4
2	g.25161737A>G	CA1555374	POMC	c.148T>C (p.Cys50Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.25161737A>T	CA346067673	POMC	c.148T>A (p.Cys50Ser)	gnomAD v4
2	g.25161738G>A	CA425180292	POMC	c.147C>T (p.Ala49=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161738G>C	CA425180299	POMC	c.147C>G (p.Ala49=)	gnomAD v4
2	g.25161738G=	CA1239228594	POMC	c.147C= (p.Ala49=)
2	g.25161738G>T	CA425180295	POMC	c.147C>A (p.Ala49=)	gnomAD v4
2	g.25161739G>A	CA1555375	POMC	c.146C>T (p.Ala49Val)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.25161739G>C	CA346067674	POMC	c.146C>G (p.Ala49Gly)	gnomAD v4
2	g.25161739G=	CA1239228599	POMC	c.146C= (p.Ala49=)
2	g.25161739G>T	CA346067675	POMC	c.146C>A (p.Ala49Asp)	gnomAD v4
2	g.25161740C>A	CA346067676	POMC	c.145G>T (p.Ala49Ser)	gnomAD v4
2	g.25161740C>G	CA346067677	POMC	c.145G>C (p.Ala49Pro)	gnomAD v4 COSMIC
2	g.25161740C>T	CA346067678	POMC	c.145G>A (p.Ala49Thr)	gnomAD v4
2	g.25161741C>A	CA425180312	POMC	c.144G>T (p.Arg48=)	gnomAD v4
2	g.25161741C=	CA1239228604	POMC	c.144G= (p.Arg48=)
2	g.25161741C>G	CA1555376	POMC	c.144G>C (p.Arg48=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161741C>T	CA425180320	POMC	c.144G>A (p.Arg48=)	gnomAD v4
2	g.25161742C>A	CA346067679	POMC	c.143G>T (p.Arg48Leu)	gnomAD v4
2	g.25161742C=	CA1239228605	POMC	c.143G= (p.Arg48=)
2	g.25161742C>G	CA346067680	POMC	c.143G>C (p.Arg48Pro)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161742C>T	CA1555377	POMC	c.143G>A (p.Arg48Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161743G>A	CA346067681	POMC	c.142C>T (p.Arg48Trp)	gnomAD v4
2	g.25161743G>C	CA346067682	POMC	c.142C>G (p.Arg48Gly)
2	g.25161743G>T	CA425180321	POMC	c.142C>A (p.Arg48=)	gnomAD v4
2	g.25161744del	CA2658163238	POMC	c.142del (p.Arg48GlyfsTer23)	gnomAD v4
2	g.25161744G>A	CA425180322	POMC	c.141C>T (p.Ile47=)	gnomAD v4
2	g.25161744G>C	CA346067683	POMC	c.141C>G (p.Ile47Met)	gnomAD v4
2	g.25161744G=	CA1239228606	POMC	c.141C= (p.Ile47=)
2	g.25161744G>T	CA425180323	POMC	c.141C>A (p.Ile47=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161745A>C	CA346067685	POMC	c.140T>G (p.Ile47Ser)
2	g.25161745A>G	CA346067684	POMC	c.140T>C (p.Ile47Thr)	gnomAD v4
2	g.25161745A>T	CA346067686	POMC	c.140T>A (p.Ile47Asn)	gnomAD v4
2	g.25161746T>A	CA346067687	POMC	c.139A>T (p.Ile47Phe)
2	g.25161746T>C	CA1555378	POMC	c.139A>G (p.Ile47Val)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.25161746T>G	CA346067688	POMC	c.139A>C (p.Ile47Leu)	gnomAD v4
2	g.25161746T=	CA1239228607	POMC	c.139A= (p.Ile47=)

Number of alleles fetched