Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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=)
2	g.25161747G>A	CA425180329	POMC	c.138C>T (p.Cys46=)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.25161747G>C	CA346067689	POMC	c.138C>G (p.Cys46Trp)
2	g.25161747G=	CA1239228608	POMC	c.138C= (p.Cys46=)
2	g.25161747G>T	CA346067690	POMC	c.138C>A (p.Cys46Ter)	gnomAD v4
2	g.25161748C>A	CA346067691	POMC	c.137G>T (p.Cys46Phe)	gnomAD v4
2	g.25161748C=	CA1239228609	POMC	c.137G= (p.Cys46=)
2	g.25161748C>G	CA346067692	POMC	c.137G>C (p.Cys46Ser)	gnomAD v4
2	g.25161748C>T	CA346067693	POMC	c.137G>A (p.Cys46Tyr)	dbSNP gnomAD v2 gnomAD v4
2	g.25161749A=	CA1239228610	POMC	c.136T= (p.Cys46=)
2	g.25161749A>C	CA346067694	POMC	c.136T>G (p.Cys46Gly)
2	g.25161749A>G	CA346067695	POMC	c.136T>C (p.Cys46Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161749A>T	CA346067696	POMC	c.136T>A (p.Cys46Ser)	dbSNP gnomAD v2 gnomAD v4
2	g.25161750C>A	CA346067697	POMC	c.135G>T (p.Glu45Asp)	gnomAD v4
2	g.25161750C=	CA1239228611	POMC	c.135G= (p.Glu45=)
2	g.25161750C>G	CA1555379	POMC	c.135G>C (p.Glu45Asp)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.25161750C>T	CA425180338	POMC	c.135G>A (p.Glu45=)	dbSNP gnomAD v2 gnomAD v4
2	g.25161751T>A	CA346067700	POMC	c.134A>T (p.Glu45Val)	gnomAD v4
2	g.25161751T>C	CA346067698	POMC	c.134A>G (p.Glu45Gly)	gnomAD v4
2	g.25161751T>G	CA346067699	POMC	c.134A>C (p.Glu45Ala)	dbSNP gnomAD v3 gnomAD v4
2	g.25161751T=	CA1239228612	POMC	c.134A= (p.Glu45=)
2	g.25161752C>A	CA346067701	POMC	c.133G>T (p.Glu45Ter)	gnomAD v4
2	g.25161752C>G	CA346067702	POMC	c.133G>C (p.Glu45Gln)	gnomAD v4
2	g.25161752C>T	CA346067703	POMC	c.133G>A (p.Glu45Lys)	gnomAD v4
2	g.25161753C>A	CA346067704	POMC	c.133-1G>T (n.133-1G>T)	gnomAD v4
2	g.25161753C=	CA1239228614	POMC	c.133-1G= (n.133-1G=)
2	g.25161753C>G	CA346067705	POMC	c.133-1G>C (n.133-1G>C)	gnomAD v4
2	g.25161753C>T	CA346067706	POMC	c.133-1G>A (n.133-1G>A)	dbSNP gnomAD v2
2	g.25161754T>A	CA346067707	POMC	c.133-2A>T (n.133-2A>T)
2	g.25161754T>C	CA346067708	POMC	c.133-2A>G (n.133-2A>G)	gnomAD v4
2	g.25161754T>G	CA346067709	POMC	c.133-2A>C (n.133-2A>C)	ClinVar dbSNP gnomAD v4
2	g.25161754T=	CA1239228615	POMC	c.133-2A= (n.133-2A=)
2	g.25161755G>A	CA2658163240	POMC	c.133-3C>T (n.133-3C>T)	gnomAD v4
2	g.25161755G>T	CA2658163241	POMC	c.133-3C>A (n.133-3C>A)	gnomAD v4
2	g.25161759del	CA2576693520	POMC	c.133-3del (n.133-3del)	gnomAD v4
2	g.25161758_25161759del	CA2658163239	POMC	c.133-4_133-3del (n.133-4_133-3del)	gnomAD v4
2	g.25161756G>A	CA1239228617	POMC	c.133-4C>T (n.133-4C>T)	dbSNP gnomAD v4
2	g.25161756G=	CA1239228616	POMC	c.133-4C= (n.133-4C=)
2	g.25161756G>T	CA2658163242	POMC	c.133-4C>A (n.133-4C>A)	gnomAD v4
2	g.25161757G>A	CA2658163243	POMC	c.133-5C>T (n.133-5C>T)	gnomAD v4
2	g.25161757G>C	CA2658163244	POMC	c.133-5C>G (n.133-5C>G)	gnomAD v4
2	g.25161757G=	CA1239228618	POMC	c.133-5C= (n.133-5C=)
2	g.25161757G>T	CA645515104	POMC	c.133-5C>A (n.133-5C>A)	dbSNP gnomAD v4 COSMIC
2	g.25161758G>A	CA1555380	POMC	c.133-6C>T (n.133-6C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched