Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.25161361T>A	CA346066826	POMC	c.524A>T (p.Glu175Val)
2	g.25161361T>C	CA346066827	POMC	c.524A>G (p.Glu175Gly)
2	g.25161361T>G	CA346066829	POMC	c.524A>C (p.Glu175Ala)
2	g.25161362C>A	CA346066832	POMC	c.523G>T (p.Glu175Ter)
2	g.25161362C=	CA1239227393	POMC	c.523G= (p.Glu175=)
2	g.25161362C>G	CA1555283	POMC	c.523G>C (p.Glu175Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161362C>T	CA346066835	POMC	c.523G>A (p.Glu175Lys)
2	g.25161363C>A	CA425352927	POMC	c.522G>T (p.Leu174=)
2	g.25161363C=	CA1239227398	POMC	c.522G= (p.Leu174=)
2	g.25161363C>G	CA425352929	POMC	c.522G>C (p.Leu174=)
2	g.25161363C>T	CA425352931	POMC	c.522G>A (p.Leu174=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161364A=	CA1239227402	POMC	c.521T= (p.Leu174=)
2	g.25161364A>C	CA346066837	POMC	c.521T>G (p.Leu174Arg)
2	g.25161364A>G	CA346066839	POMC	c.521T>C (p.Leu174Pro)	dbSNP gnomAD v3 gnomAD v4
2	g.25161364A>T	CA346066841	POMC	c.521T>A (p.Leu174Gln)	gnomAD v4
2	g.25161365G>A	CA425352937	POMC	c.520C>T (p.Leu174=)	gnomAD v4
2	g.25161365G>C	CA346066843	POMC	c.520C>G (p.Leu174Val)	dbSNP gnomAD v2 gnomAD v4
2	g.25161365G=	CA1239227404	POMC	c.520C= (p.Leu174=)
2	g.25161365G>T	CA346066844	POMC	c.520C>A (p.Leu174Met)	gnomAD v4
2	g.25161366G>A	CA425352938	POMC	c.519C>T (p.Pro173=)
2	g.25161366G>C	CA425352939	POMC	c.519C>G (p.Pro173=)	gnomAD v4
2	g.25161366G>T	CA425352940	POMC	c.519C>A (p.Pro173=)
2	g.25161367G>A	CA43684569	POMC	c.518C>T (p.Pro173Leu)	dbSNP gnomAD v2 gnomAD v4 COSMIC
2	g.25161367G>C	CA346066849	POMC	c.518C>G (p.Pro173Arg)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.25161367G=	CA1239227406	POMC	c.518C= (p.Pro173=)
2	g.25161367G>T	CA346066846	POMC	c.518C>A (p.Pro173His)
2	g.25161368G>A	CA346066855	POMC	c.517C>T (p.Pro173Ser)	dbSNP gnomAD v2 gnomAD v4
2	g.25161368G>C	CA346066851	POMC	c.517C>G (p.Pro173Ala)
2	g.25161368G=	CA1239227410	POMC	c.517C= (p.Pro173=)
2	g.25161368G>T	CA346066853	POMC	c.517C>A (p.Pro173Thr)
2	g.25161369G>A	CA1555284	POMC	c.516C>T (p.Phe172=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.25161369G>C	CA346066859	POMC	c.516C>G (p.Phe172Leu)
2	g.25161369G=	CA1239227415	POMC	c.516C= (p.Phe172=)
2	g.25161369G>T	CA1555285	POMC	c.516C>A (p.Phe172Leu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161370A>C	CA346066861	POMC	c.515T>G (p.Phe172Cys)
2	g.25161370A>G	CA346066862	POMC	c.515T>C (p.Phe172Ser)	gnomAD v4
2	g.25161370A>T	CA346066863	POMC	c.515T>A (p.Phe172Tyr)
2	g.25161371A>C	CA346066864	POMC	c.514T>G (p.Phe172Val)
2	g.25161371A>G	CA346066865	POMC	c.514T>C (p.Phe172Leu)
2	g.25161371A>T	CA346066866	POMC	c.514T>A (p.Phe172Ile)
2	g.25161372G>A	CA425352958	POMC	c.513C>T (p.Ala171=)	gnomAD v4
2	g.25161372G>C	CA425352959	POMC	c.513C>G (p.Ala171=)
2	g.25161372G>T	CA425352954	POMC	c.513C>A (p.Ala171=)
2	g.25161373G>A	CA346066868	POMC	c.512C>T (p.Ala171Val)	gnomAD v4
2	g.25161373G>C	CA43684581	POMC	c.512C>G (p.Ala171Gly)	dbSNP gnomAD v3 gnomAD v4
2	g.25161373G=	CA1239227420	POMC	c.512C= (p.Ala171=)
2	g.25161373G>T	CA346066871	POMC	c.512C>A (p.Ala171Asp)	gnomAD v4
2	g.25161374C>A	CA1555286	POMC	c.511G>T (p.Ala171Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.25161374C=	CA1239227423	POMC	c.511G= (p.Ala171=)
2	g.25161374C>G	CA346066875	POMC	c.511G>C (p.Ala171Pro)

Number of alleles fetched