Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.25161574_25161635del	CA2658163201	POMC	c.250_311del (p.Trp84ArgfsTer14)	gnomAD v4
2	g.25161634C>A	CA346067454	POMC	c.251G>T (p.Trp84Leu)
2	g.25161634C=	CA1239228257	POMC	c.251G= (p.Trp84=)
2	g.25161634C>G	CA346067455	POMC	c.251G>C (p.Trp84Ser)
2	g.25161634C>T	CA1555347	POMC	c.251G>A (p.Trp84Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161635A=	CA1239228270	POMC	c.250T= (p.Trp84=)
2	g.25161635A>C	CA346067456	POMC	c.250T>G (p.Trp84Gly)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161635A>G	CA1555348	POMC	c.250T>C (p.Trp84Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.25161635A>T	CA346067457	POMC	c.250T>A (p.Trp84Arg)
2	g.25161636G>A	CA425179920	POMC	c.249C>T (p.Arg83=)	gnomAD v4
2	g.25161636G>C	CA425179922	POMC	c.249C>G (p.Arg83=)
2	g.25161636G>T	CA425179923	POMC	c.249C>A (p.Arg83=)
2	g.25161637C>A	CA346067458	POMC	c.248G>T (p.Arg83Leu)	gnomAD v4
2	g.25161637C=	CA1239228284	POMC	c.248G= (p.Arg83=)
2	g.25161637C>G	CA346067459	POMC	c.248G>C (p.Arg83Pro)
2	g.25161637C>T	CA43684950	POMC	c.248G>A (p.Arg83His)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161637dup	CA3007426448	POMC	c.248dup (p.Trp84LeufsTer?)
2	g.25161638G>A	CA346067462	POMC	c.247C>T (p.Arg83Cys)
2	g.25161638G>C	CA346067461	POMC	c.247C>G (p.Arg83Gly)
2	g.25161638G>T	CA346067460	POMC	c.247C>A (p.Arg83Ser)
2	g.25161639G>A	CA425179931	POMC	c.246C>T (p.Phe82=)	dbSNP gnomAD v4
2	g.25161639G>C	CA346067463	POMC	c.246C>G (p.Phe82Leu)
2	g.25161639G>T	CA346067464	POMC	c.246C>A (p.Phe82Leu)	gnomAD v4
2	g.25161640A>C	CA346067465	POMC	c.245T>G (p.Phe82Cys)
2	g.25161640A>G	CA346067466	POMC	c.245T>C (p.Phe82Ser)	gnomAD v4
2	g.25161640A>T	CA346067467	POMC	c.245T>A (p.Phe82Tyr)
2	g.25161641A=	CA1239228290	POMC	c.244T= (p.Phe82=)
2	g.25161641A>C	CA1555349	POMC	c.244T>G (p.Phe82Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161641A>G	CA346067468	POMC	c.244T>C (p.Phe82Leu)
2	g.25161641A>T	CA346067469	POMC	c.244T>A (p.Phe82Ile)
2	g.25161642G>A	CA1555350	POMC	c.243C>T (p.His81=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.25161642G>C	CA346067470	POMC	c.243C>G (p.His81Gln)
2	g.25161642G=	CA1239228303	POMC	c.243C= (p.His81=)
2	g.25161642G>T	CA346067471	POMC	c.243C>A (p.His81Gln)
2	g.25161643T>A	CA346067472	POMC	c.242A>T (p.His81Leu)	gnomAD v4
2	g.25161643T>C	CA346067473	POMC	c.242A>G (p.His81Arg)	dbSNP gnomAD v2 gnomAD v4
2	g.25161643T>G	CA346067474	POMC	c.242A>C (p.His81Pro)
2	g.25161643T=	CA1239228307	POMC	c.242A= (p.His81=)
2	g.25161644G>A	CA346067477	POMC	c.241C>T (p.His81Tyr)	gnomAD v4
2	g.25161644G>C	CA346067475	POMC	c.241C>G (p.His81Asp)
2	g.25161644G>T	CA346067476	POMC	c.241C>A (p.His81Asn)
2	g.25161645G>A	CA425179951	POMC	c.240C>T (p.Gly80=)	dbSNP gnomAD v2 gnomAD v4
2	g.25161645G>C	CA425179952	POMC	c.240C>G (p.Gly80=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.25161645G=	CA1239228312	POMC	c.240C= (p.Gly80=)
2	g.25161645G>T	CA425179954	POMC	c.240C>A (p.Gly80=)
2	g.25161646C>A	CA346067478	POMC	c.239G>T (p.Gly80Val)	ClinVar gnomAD v4
2	g.25161646C>G	CA346067479	POMC	c.239G>C (p.Gly80Ala)
2	g.25161646C>T	CA346067480	POMC	c.239G>A (p.Gly80Asp)	gnomAD v4
2	g.25161648del	CA3007426449	POMC	c.239del (p.Gly80AlafsTer?)
2	g.25161647C>A	CA346067481	POMC	c.238G>T (p.Gly80Cys)	gnomAD v4

Number of alleles fetched