Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.25161453dup	CA3007428801	POMC	c.433dup (p.Arg145ProfsTer18)
2	g.25161453del	CA256769	POMC	c.433del (p.Arg145AlafsTer13)	ClinVar dbSNP gnomAD v4
2	g.25161453G>A	CA425353209	POMC	c.432C>T (p.Phe144=)	gnomAD v4
2	g.25161453G>C	CA346067073	POMC	c.432C>G (p.Phe144Leu)	COSMIC
2	g.25161453G>T	CA346067072	POMC	c.432C>A (p.Phe144Leu)	dbSNP gnomAD v4
2	g.25161454A>C	CA346067074	POMC	c.431T>G (p.Phe144Cys)
2	g.25161454A>G	CA346067075	POMC	c.431T>C (p.Phe144Ser)
2	g.25161454A>T	CA346067076	POMC	c.431T>A (p.Phe144Tyr)
2	g.25161455A=	CA1239227534	POMC	c.430T= (p.Phe144=)
2	g.25161455A>C	CA346067077	POMC	c.430T>G (p.Phe144Val)	COSMIC
2	g.25161455A>G	CA1555299	POMC	c.430T>C (p.Phe144Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161455A>T	CA346067078	POMC	c.430T>A (p.Phe144Ile)
2	g.25161456G>A	CA1555301	POMC	c.429C>T (p.His143=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.25161456G>C	CA1555300	POMC	c.429C>G (p.His143Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161456G=	CA1239227536	POMC	c.429C= (p.His143=)
2	g.25161456G>T	CA346067079	POMC	c.429C>A (p.His143Gln)
2	g.25161457T>A	CA346067080	POMC	c.428A>T (p.His143Leu)
2	g.25161457T>C	CA346067081	POMC	c.428A>G (p.His143Arg)	dbSNP gnomAD v4
2	g.25161457T>G	CA346067082	POMC	c.428A>C (p.His143Pro)
2	g.25161457T=	CA1239227537	POMC	c.428A= (p.His143=)
2	g.25161458G>A	CA1555302	POMC	c.427C>T (p.His143Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161458G>C	CA346067083	POMC	c.427C>G (p.His143Asp)
2	g.25161458G=	CA1239227538	POMC	c.427C= (p.His143=)
2	g.25161458G>T	CA346067084	POMC	c.427C>A (p.His143Asn)	gnomAD v4
2	g.25161459C>A	CA346067085	POMC	c.426G>T (p.Glu142Asp)
2	g.25161459C=	CA1239227539	POMC	c.426G= (p.Glu142=)
2	g.25161459C>G	CA346067086	POMC	c.426G>C (p.Glu142Asp)
2	g.25161459C>T	CA425353225	POMC	c.426G>A (p.Glu142=)	dbSNP gnomAD v2 gnomAD v4
2	g.25161460T>A	CA346067087	POMC	c.425A>T (p.Glu142Val)
2	g.25161460T>C	CA346067088	POMC	c.425A>G (p.Glu142Gly)	ClinVar
2	g.25161460T>G	CA346067089	POMC	c.425A>C (p.Glu142Ala)
2	g.25161461C>A	CA346067092	POMC	c.424G>T (p.Glu142Ter)	gnomAD v4
2	g.25161461C>G	CA346067091	POMC	c.424G>C (p.Glu142Gln)
2	g.25161461C>T	CA346067090	POMC	c.424G>A (p.Glu142Lys)
2	g.25161462del	CA3007428802	POMC	c.424del (p.Glu142SerfsTer16)
2	g.25161462C>A	CA346067093	POMC	c.423G>T (p.Met141Ile)
2	g.25161462C>G	CA346067094	POMC	c.423G>C (p.Met141Ile)
2	g.25161462C>T	CA346067095	POMC	c.423G>A (p.Met141Ile)
2	g.25161463A>C	CA346067096	POMC	c.422T>G (p.Met141Arg)	gnomAD v4
2	g.25161463A>G	CA346067097	POMC	c.422T>C (p.Met141Thr)	gnomAD v4
2	g.25161463A>T	CA346067098	POMC	c.422T>A (p.Met141Lys)
2	g.25161464T>A	CA346067099	POMC	c.421A>T (p.Met141Leu)	COSMIC
2	g.25161464T>C	CA346067100	POMC	c.421A>G (p.Met141Val)	gnomAD v4
2	g.25161464T>G	CA346067101	POMC	c.421A>C (p.Met141Leu)	gnomAD v4
2	g.25161465G>A	CA425353236	POMC	c.420C>T (p.Ser140=)	dbSNP gnomAD v3 gnomAD v4
2	g.25161465G>C	CA425353237	POMC	c.420C>G (p.Ser140=)
2	g.25161465G=	CA1239227541	POMC	c.420C= (p.Ser140=)
2	g.25161465G>T	CA425353238	POMC	c.420C>A (p.Ser140=)	gnomAD v4
2	g.25161466del	CA3007428803	POMC	c.420del (p.Met141TrpfsTer17)
2	g.25161466G>A	CA43684680	POMC	c.419C>T (p.Ser140Phe)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched