Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.25161448C>A	CA1555295	POMC	c.437G>T (p.Trp146Leu)	dbSNP ExAC
2	g.25161448C=	CA1239227530	POMC	c.437G= (p.Trp146=)
2	g.25161448C>G	CA346067064	POMC	c.437G>C (p.Trp146Ser)
2	g.25161448C>T	CA346067065	POMC	c.437G>A (p.Trp146Ter)
2	g.25161449A>C	CA346067067	POMC	c.436T>G (p.Trp146Gly)
2	g.25161449A>G	CA346067068	POMC	c.436T>C (p.Trp146Arg)
2	g.25161449A>T	CA346067066	POMC	c.436T>A (p.Trp146Arg)	gnomAD v4
2	g.25161450G>A	CA425353187	POMC	c.435C>T (p.Arg145=)
2	g.25161450G>C	CA425353188	POMC	c.435C>G (p.Arg145=)
2	g.25161450G>T	CA425353193	POMC	c.435C>A (p.Arg145=)
2	g.25161451C>A	CA1555297	POMC	c.434G>T (p.Arg145Leu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161451C=	CA1239227531	POMC	c.434G= (p.Arg145=)
2	g.25161451C>G	CA346067069	POMC	c.434G>C (p.Arg145Pro)
2	g.25161451C>T	CA1555296	POMC	c.434G>A (p.Arg145His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161451_25161452delinsCG	CA1239227532	POMC	c.433_434delinsCG (p.Arg145=)
2	g.25161452G>A	CA1555298	POMC	c.433C>T (p.Arg145Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161452G>C	CA346067070	POMC	c.433C>G (p.Arg145Gly)	dbSNP gnomAD v2 gnomAD v4
2	g.25161452G=	CA1239227533	POMC	c.433C= (p.Arg145=)
2	g.25161452G>T	CA346067071	POMC	c.433C>A (p.Arg145Ser)	gnomAD v4
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)
2	g.25161460T>G	CA346067089	POMC	c.425A>C (p.Glu142Ala)
2	g.25161461C>A	CA346067092	POMC	c.424G>T (p.Glu142Ter)	gnomAD v4

Number of alleles fetched