Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.25161481C>A	CA346067133	POMC	c.404G>T (p.Gly135Val)
2	g.25161481C=	CA1239227568	POMC	c.404G= (p.Gly135=)
2	g.25161481C>G	CA346067134	POMC	c.404G>C (p.Gly135Ala)
2	g.25161481C>T	CA43684695	POMC	c.404G>A (p.Gly135Asp)	dbSNP
2	g.25161482_25161483dup	CA256771	POMC	c.403_404dup (p.Lys136AlafsTer23)	ClinVar dbSNP
2	g.25161482C>A	CA346067139	POMC	c.403G>T (p.Gly135Cys)
2	g.25161482C=	CA1239227569	POMC	c.403G= (p.Gly135=)
2	g.25161482C>G	CA346067138	POMC	c.403G>C (p.Gly135Arg)
2	g.25161482C>T	CA346067137	POMC	c.403G>A (p.Gly135Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161483C>A	CA346067140	POMC	c.402G>T (p.Glu134Asp)
2	g.25161483C>G	CA346067141	POMC	c.402G>C (p.Glu134Asp)
2	g.25161483C>T	CA425353392	POMC	c.402G>A (p.Glu134=)
2	g.25161484T>A	CA346067142	POMC	c.401A>T (p.Glu134Val)
2	g.25161484T>C	CA346067143	POMC	c.401A>G (p.Glu134Gly)
2	g.25161484T>G	CA346067144	POMC	c.401A>C (p.Glu134Ala)
2	g.25161485C>A	CA346067147	POMC	c.400G>T (p.Glu134Ter)
2	g.25161485C=	CA1239227571	POMC	c.400G= (p.Glu134=)
2	g.25161485C>G	CA346067148	POMC	c.400G>C (p.Glu134Gln)
2	g.25161485C>T	CA346067149	POMC	c.400G>A (p.Glu134Lys)	dbSNP gnomAD v2 gnomAD v4
2	g.25161485_25161486insCC	CA2586968732	POMC	c.400_401insGG (p.Glu134GlyfsTer25)
2	g.25161486G>A	CA1555305	POMC	c.399C>T (p.Arg133=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161486G>C	CA425353400	POMC	c.399C>G (p.Arg133=)
2	g.25161486G=	CA1239227573	POMC	c.399C= (p.Arg133=)
2	g.25161486G>T	CA425353401	POMC	c.399C>A (p.Arg133=)
2	g.25161487C>A	CA346067150	POMC	c.398G>T (p.Arg133Leu)
2	g.25161487C=	CA1239227578	POMC	c.398G= (p.Arg133=)
2	g.25161487C>G	CA346067151	POMC	c.398G>C (p.Arg133Pro)	dbSNP gnomAD v4
2	g.25161487C>T	CA346067152	POMC	c.398G>A (p.Arg133His)	dbSNP gnomAD v2 gnomAD v4
2	g.25161488G>A	CA346067155	POMC	c.397C>T (p.Arg133Cys)	COSMIC
2	g.25161488G>C	CA346067154	POMC	c.397C>G (p.Arg133Gly)
2	g.25161488G>T	CA346067153	POMC	c.397C>A (p.Arg133Ser)
2	g.25161489C>A	CA425353408	POMC	c.396G>T (p.Pro132=)
2	g.25161489C>G	CA425353409	POMC	c.396G>C (p.Pro132=)	gnomAD v4
2	g.25161489C>T	CA425353411	POMC	c.396G>A (p.Pro132=)	gnomAD v4
2	g.25161489_25161491delinsCGG	CA1239227583	POMC	c.394_396delinsCCG (p.Pro132=)
2	g.25161490G>A	CA43684703	POMC	c.395C>T (p.Pro132Leu)	dbSNP gnomAD v2 gnomAD v4 COSMIC
2	g.25161490G>C	CA346067156	POMC	c.395C>G (p.Pro132Arg)
2	g.25161490G=	CA1239227587	POMC	c.395C= (p.Pro132=)
2	g.25161490G>T	CA346067157	POMC	c.395C>A (p.Pro132Gln)	gnomAD v4
2	g.25161492del	CA2658163197	POMC	c.395del (p.Pro132ArgfsTer26)	gnomAD v4
2	g.25161491_25161492del	CA43684708	POMC	c.394_395del (p.Pro132AlafsTer30)	dbSNP gnomAD v3 gnomAD v4
2	g.25161491G>A	CA346067158	POMC	c.394C>T (p.Pro132Ser)
2	g.25161491G>C	CA1555306	POMC	c.394C>G (p.Pro132Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161491G=	CA1239227593	POMC	c.394C= (p.Pro132=)
2	g.25161491G>T	CA346067159	POMC	c.394C>A (p.Pro132Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161492G>A	CA425353421	POMC	c.393C>T (p.Gly131=)	gnomAD v4
2	g.25161492G>C	CA425353419	POMC	c.393C>G (p.Gly131=)
2	g.25161492G=	CA1239227601	POMC	c.393C= (p.Gly131=)
2	g.25161492G>T	CA43684714	POMC	c.393C>A (p.Gly131=)	dbSNP gnomAD v4
2	g.25161493C>A	CA346067160	POMC	c.392G>T (p.Gly131Val)	gnomAD v4

Number of alleles fetched