Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.25161545C>A	CA346067266	POMC	c.340G>T (p.Gly114Cys)
2	g.25161545C=	CA1239227751	POMC	c.340G= (p.Gly114=)
2	g.25161545C>G	CA346067267	POMC	c.340G>C (p.Gly114Arg)
2	g.25161545C>T	CA346067268	POMC	c.340G>A (p.Gly114Ser)	dbSNP gnomAD v3 gnomAD v4
2	g.25161546G>A	CA425353527	POMC	c.339C>T (p.Cys113=)	dbSNP gnomAD v4 COSMIC
2	g.25161546G>C	CA346067269	POMC	c.339C>G (p.Cys113Trp)
2	g.25161546G=	CA1239227755	POMC	c.339C= (p.Cys113=)
2	g.25161546G>T	CA346067270	POMC	c.339C>A (p.Cys113Ter)	gnomAD v4
2	g.25161547C>A	CA346067271	POMC	c.338G>T (p.Cys113Phe)
2	g.25161547C>G	CA346067272	POMC	c.338G>C (p.Cys113Ser)
2	g.25161547C>T	CA346067273	POMC	c.338G>A (p.Cys113Tyr)	gnomAD v4
2	g.25161548A=	CA1239227762	POMC	c.337T= (p.Cys113=)
2	g.25161548A>C	CA346067274	POMC	c.337T>G (p.Cys113Gly)
2	g.25161548A>G	CA346067275	POMC	c.337T>C (p.Cys113Arg)	dbSNP gnomAD v4
2	g.25161548A>T	CA346067276	POMC	c.337T>A (p.Cys113Ser)	dbSNP gnomAD v2 gnomAD v4
2	g.25161549G>A	CA425353531	POMC	c.336C>T (p.Asp112=)	gnomAD v4
2	g.25161549G>C	CA346067277	POMC	c.336C>G (p.Asp112Glu)
2	g.25161549G>T	CA346067278	POMC	c.336C>A (p.Asp112Glu)
2	g.25161550T>A	CA346067281	POMC	c.335A>T (p.Asp112Val)
2	g.25161550T>C	CA346067280	POMC	c.335A>G (p.Asp112Gly)	gnomAD v4
2	g.25161550T>G	CA346067279	POMC	c.335A>C (p.Asp112Ala)
2	g.25161551C>A	CA1555317	POMC	c.334G>T (p.Asp112Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161551C=	CA1239227764	POMC	c.334G= (p.Asp112=)
2	g.25161551C>G	CA346067282	POMC	c.334G>C (p.Asp112His)	gnomAD v4
2	g.25161551C>T	CA346067283	POMC	c.334G>A (p.Asp112Asn)	dbSNP gnomAD v2
2	g.25161552T>A	CA346067284	POMC	c.333A>T (p.Glu111Asp)
2	g.25161552T>C	CA1555318	POMC	c.333A>G (p.Glu111=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161552T>G	CA346067285	POMC	c.333A>C (p.Glu111Asp)
2	g.25161552T=	CA1239227771	POMC	c.333A= (p.Glu111=)
2	g.25161553T>A	CA346067286	POMC	c.332A>T (p.Glu111Val)
2	g.25161553T>C	CA346067287	POMC	c.332A>G (p.Glu111Gly)	gnomAD v4
2	g.25161553T>G	CA346067288	POMC	c.332A>C (p.Glu111Ala)
2	g.25161554C>A	CA346067289	POMC	c.331G>T (p.Glu111Ter)	gnomAD v4
2	g.25161554C>G	CA346067290	POMC	c.331G>C (p.Glu111Gln)
2	g.25161554C>T	CA346067291	POMC	c.331G>A (p.Glu111Lys)	gnomAD v4
2	g.25161555G>A	CA425353534	POMC	c.330C>T (p.Gly110=)	dbSNP gnomAD v4
2	g.25161555G>C	CA425353535	POMC	c.330C>G (p.Gly110=)
2	g.25161555G=	CA1239227776	POMC	c.330C= (p.Gly110=)
2	g.25161555G>T	CA425353537	POMC	c.330C>A (p.Gly110=)	gnomAD v4
2	g.25161556C>A	CA346067294	POMC	c.329G>T (p.Gly110Val)
2	g.25161556C>G	CA346067293	POMC	c.329G>C (p.Gly110Ala)
2	g.25161556C>T	CA346067292	POMC	c.329G>A (p.Gly110Asp)	gnomAD v4
2	g.25161557C>A	CA346067295	POMC	c.328G>T (p.Gly110Cys)	gnomAD v4
2	g.25161557C=	CA1239227778	POMC	c.328G= (p.Gly110=)
2	g.25161557C>G	CA346067297	POMC	c.328G>C (p.Gly110Arg)
2	g.25161557C>T	CA346067296	POMC	c.328G>A (p.Gly110Ser)	dbSNP gnomAD v4
2	g.25161558C>A	CA425353539	POMC	c.327G>T (p.Ala109=)	dbSNP
2	g.25161558C=	CA1239227782	POMC	c.327G= (p.Ala109=)
2	g.25161558C>G	CA1555319	POMC	c.327G>C (p.Ala109=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161558C>T	CA425353540	POMC	c.327G>A (p.Ala109=)	gnomAD v4

Number of alleles fetched