Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.25161173_25161180del	CA2658163190	POMC	c.708_715del (p.Tyr237PhefsTer?)	gnomAD v4
2	g.25161179_25161200dup	CA2658163191	POMC	c.686_707dup (p.Tyr237GlnfsTer?)	gnomAD v4
2	g.25161179G>A	CA346066222	POMC	c.706C>T (p.Arg236Cys)	gnomAD v4
2	g.25161179G>C	CA123053	POMC	c.706C>G (p.Arg236Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161179G=	CA1239227000	POMC	c.706C= (p.Arg236=)
2	g.25161179G>T	CA346066223	POMC	c.706C>A (p.Arg236Ser)	gnomAD v4
2	g.25161180C>A	CA346066224	POMC	c.705G>T (p.Lys235Asn)
2	g.25161180C=	CA1239227005	POMC	c.705G= (p.Lys235=)
2	g.25161180C>G	CA346066225	POMC	c.705G>C (p.Lys235Asn)	dbSNP gnomAD v3 gnomAD v4
2	g.25161180C>T	CA425353045	POMC	c.705G>A (p.Lys235=)
2	g.25161181T>A	CA346066226	POMC	c.704A>T (p.Lys235Met)
2	g.25161181T>C	CA346066227	POMC	c.704A>G (p.Lys235Arg)
2	g.25161181T>G	CA346066228	POMC	c.704A>C (p.Lys235Thr)
2	g.25161182T>A	CA346066229	POMC	c.703A>T (p.Lys235Ter)
2	g.25161182T>C	CA346066230	POMC	c.703A>G (p.Lys235Glu)	gnomAD v4
2	g.25161182T>G	CA346066231	POMC	c.703A>C (p.Lys235Gln)
2	g.25161183G>A	CA425353050	POMC	c.702C>T (p.Asp234=)
2	g.25161183G>C	CA346066232	POMC	c.702C>G (p.Asp234Glu)	gnomAD v4
2	g.25161183G>T	CA346066233	POMC	c.702C>A (p.Asp234Glu)
2	g.25161184T>A	CA346066236	POMC	c.701A>T (p.Asp234Val)
2	g.25161184T>C	CA346066234	POMC	c.701A>G (p.Asp234Gly)
2	g.25161184T>G	CA346066235	POMC	c.701A>C (p.Asp234Ala)
2	g.25161185C>A	CA346066237	POMC	c.700G>T (p.Asp234Tyr)
2	g.25161185C>G	CA346066239	POMC	c.700G>C (p.Asp234His)
2	g.25161185C>T	CA346066238	POMC	c.700G>A (p.Asp234Asn)	COSMIC
2	g.25161186C>A	CA346066240	POMC	c.699G>T (p.Lys233Asn)
2	g.25161186C=	CA1239227008	POMC	c.699G= (p.Lys233=)
2	g.25161186C>G	CA346066241	POMC	c.699G>C (p.Lys233Asn)
2	g.25161186C>T	CA425353064	POMC	c.699G>A (p.Lys233=)	dbSNP gnomAD v3 gnomAD v4
2	g.25161187T>A	CA346066242	POMC	c.698A>T (p.Lys233Met)
2	g.25161187T>C	CA346066243	POMC	c.698A>G (p.Lys233Arg)	gnomAD v4
2	g.25161187T>G	CA346066244	POMC	c.698A>C (p.Lys233Thr)
2	g.25161188T>A	CA346066245	POMC	c.697A>T (p.Lys233Ter)
2	g.25161188T>C	CA346066246	POMC	c.697A>G (p.Lys233Glu)	dbSNP
2	g.25161188T>G	CA346066247	POMC	c.697A>C (p.Lys233Gln)	gnomAD v4
2	g.25161188T=	CA1239227012	POMC	c.697A= (p.Lys233=)
2	g.25161188_25161189delinsTG	CA1239227011	POMC	c.696_697delinsCA (p.Pro232=)
2	g.25161189G>A	CA43684337	POMC	c.696C>T (p.Pro232=)	dbSNP gnomAD v4
2	g.25161189G>C	CA425353072	POMC	c.696C>G (p.Pro232=)
2	g.25161189G=	CA1239227018	POMC	c.696C= (p.Pro232=)
2	g.25161189G>T	CA425353071	POMC	c.696C>A (p.Pro232=)
2	g.25161191dup	CA767172709	POMC	c.696dup (p.Lys233GlnfsTer?)	dbSNP
2	g.25161191del	CA346066248	POMC	c.696del (p.Lys233ArgfsTer9)	dbSNP
2	g.25161190G>A	CA346066249	POMC	c.695C>T (p.Pro232Leu)
2	g.25161190G>C	CA346066250	POMC	c.695C>G (p.Pro232Arg)
2	g.25161190G>T	CA346066251	POMC	c.695C>A (p.Pro232His)
2	g.25161191G>A	CA346066252	POMC	c.694C>T (p.Pro232Ser)	gnomAD v4
2	g.25161191G>C	CA346066254	POMC	c.694C>G (p.Pro232Ala)	dbSNP gnomAD v2 gnomAD v4
2	g.25161191G=	CA1239227020	POMC	c.694C= (p.Pro232=)
2	g.25161191G>T	CA346066253	POMC	c.694C>A (p.Pro232Thr)

Number of alleles fetched