Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.25161537C>A	CA425353514	POMC	c.348G>T (p.Leu116=)	dbSNP gnomAD v3 gnomAD v4
2	g.25161537C=	CA1239227725	POMC	c.348G= (p.Leu116=)
2	g.25161537C>G	CA425353515	POMC	c.348G>C (p.Leu116=)
2	g.25161537C>T	CA425353516	POMC	c.348G>A (p.Leu116=)	COSMIC
2	g.25161538A>C	CA346067253	POMC	c.347T>G (p.Leu116Arg)
2	g.25161538A>G	CA346067255	POMC	c.347T>C (p.Leu116Pro)
2	g.25161538A>T	CA346067254	POMC	c.347T>A (p.Leu116Gln)
2	g.25161539G>A	CA1555315	POMC	c.346C>T (p.Leu116=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161539G>C	CA346067256	POMC	c.346C>G (p.Leu116Val)
2	g.25161539G=	CA1239227732	POMC	c.346C= (p.Leu116=)
2	g.25161539G>T	CA346067257	POMC	c.346C>A (p.Leu116Met)
2	g.25161540C>A	CA1555316	POMC	c.345G>T (p.Pro115=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161540C=	CA1239227737	POMC	c.345G= (p.Pro115=)
2	g.25161540C>G	CA425353518	POMC	c.345G>C (p.Pro115=)
2	g.25161540C>T	CA425353519	POMC	c.345G>A (p.Pro115=)	dbSNP gnomAD v2 gnomAD v4
2	g.25161541G>A	CA346067258	POMC	c.344C>T (p.Pro115Leu)	dbSNP gnomAD v2 gnomAD v4
2	g.25161541G>C	CA43684769	POMC	c.344C>G (p.Pro115Arg)	dbSNP
2	g.25161541G=	CA1239227740	POMC	c.344C= (p.Pro115=)
2	g.25161541G>T	CA346067259	POMC	c.344C>A (p.Pro115Gln)	gnomAD v4
2	g.25161542G>A	CA346067260	POMC	c.343C>T (p.Pro115Ser)	dbSNP
2	g.25161542G>C	CA346067261	POMC	c.343C>G (p.Pro115Ala)	dbSNP
2	g.25161542G=	CA1239227743	POMC	c.343C= (p.Pro115=)
2	g.25161542G>T	CA346067262	POMC	c.343C>A (p.Pro115Thr)	gnomAD v4
2	g.25161543G>A	CA425353521	POMC	c.342C>T (p.Gly114=)	dbSNP gnomAD v4
2	g.25161543G>C	CA425353522	POMC	c.342C>G (p.Gly114=)
2	g.25161543G=	CA1239227747	POMC	c.342C= (p.Gly114=)
2	g.25161543G>T	CA425353523	POMC	c.342C>A (p.Gly114=)
2	g.25161544C>A	CA346067264	POMC	c.341G>T (p.Gly114Val)
2	g.25161544C>G	CA346067265	POMC	c.341G>C (p.Gly114Ala)
2	g.25161544C>T	CA346067263	POMC	c.341G>A (p.Gly114Asp)	gnomAD v4
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

Number of alleles fetched