Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.42536318G>A	CA399595059	NAGLU	c.46G>A (p.Ala16Thr)	gnomAD v4
17	g.42536318G>C	CA399595057	NAGLU	c.46G>C (p.Ala16Pro)
17	g.42536318G>T	CA399595054	NAGLU	c.46G>T (p.Ala16Ser)	gnomAD v4
17	g.42536319C>A	CA399595062	NAGLU	c.47C>A (p.Ala16Asp)	gnomAD v4
17	g.42536319C=	CA2260526690	NAGLU	c.47C= (p.Ala16=)
17	g.42536319C>G	CA399595064	NAGLU	c.47C>G (p.Ala16Gly)
17	g.42536319C>T	CA8576698	NAGLU	c.47C>T (p.Ala16Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536320C>A	CA500215688	NAGLU	c.48C>A (p.Ala16=)	gnomAD v4
17	g.42536320C=	CA2260526692	NAGLU	c.48C= (p.Ala16=)
17	g.42536320C>G	CA500215687	NAGLU	c.48C>G (p.Ala16=)
17	g.42536320C>T	CA500215686	NAGLU	c.48C>T (p.Ala16=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536320_42536321delinsCG	CA2260526691	NAGLU	c.48_49delinsCG (p.Ala16=)
17	g.42536321G>A	CA399595068	NAGLU	c.49G>A (p.Gly17Arg)	dbSNP gnomAD v4
17	g.42536321G>C	CA399595070	NAGLU	c.49G>C (p.Gly17Arg)	gnomAD v4
17	g.42536321G=	CA2260526693	NAGLU	c.49G= (p.Gly17=)
17	g.42536321G>T	CA399595072	NAGLU	c.49G>T (p.Gly17Trp)	gnomAD v4
17	g.42536324del	CA626218514	NAGLU	c.52del (p.Ala18ProfsTer?)	dbSNP gnomAD v2 gnomAD v4
17	g.42536326_42536332dup	CA2499224325	NAGLU	c.54_60dup (p.Ala21ArgfsTer?)	ClinVar dbSNP gnomAD v4
17	g.42536321_42536345dup	CA1139665538	NAGLU	c.49_73dup (p.Glu25GlyfsTer?)	ClinVar dbSNP gnomAD v4
17	g.42536322G>A	CA399595075	NAGLU	c.50G>A (p.Gly17Glu)	gnomAD v4
17	g.42536322G>C	CA399595078	NAGLU	c.50G>C (p.Gly17Ala)	gnomAD v4
17	g.42536322G=	CA2260526694	NAGLU	c.50G= (p.Gly17=)
17	g.42536322G>T	CA290771238	NAGLU	c.50G>T (p.Gly17Val)	dbSNP gnomAD v3 gnomAD v4
17	g.42536323G>A	CA500215696	NAGLU	c.51G>A (p.Gly17=)	ClinVar dbSNP gnomAD v4
17	g.42536323G>C	CA500215697	NAGLU	c.51G>C (p.Gly17=)
17	g.42536323G>T	CA500215699	NAGLU	c.51G>T (p.Gly17=)
17	g.42536324G>A	CA399595081	NAGLU	c.52G>A (p.Ala18Thr)	gnomAD v4
17	g.42536324G>C	CA399595083	NAGLU	c.52G>C (p.Ala18Pro)	gnomAD v4
17	g.42536324G>T	CA399595085	NAGLU	c.52G>T (p.Ala18Ser)	gnomAD v4
17	g.42536325C>A	CA399595087	NAGLU	c.53C>A (p.Ala18Asp)	gnomAD v4
17	g.42536325C>G	CA399595089	NAGLU	c.53C>G (p.Ala18Gly)
17	g.42536325C>T	CA399595092	NAGLU	c.53C>T (p.Ala18Val)	gnomAD v4
17	g.42536326C>A	CA500215704	NAGLU	c.54C>A (p.Ala18=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42536326C=	CA2260526695	NAGLU	c.54C= (p.Ala18=)
17	g.42536326C>G	CA500215705	NAGLU	c.54C>G (p.Ala18=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42536326C>T	CA500215709	NAGLU	c.54C>T (p.Ala18=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42536326_42536327delinsCG	CA2260526696	NAGLU	c.54_55delinsCG (p.Ala18=)
17	g.42536327G>A	CA399595096	NAGLU	c.55G>A (p.Gly19Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536327G>C	CA399595098	NAGLU	c.55G>C (p.Gly19Arg)	dbSNP gnomAD v4
17	g.42536327G=	CA2260526697	NAGLU	c.55G= (p.Gly19=)
17	g.42536327G>T	CA399595103	NAGLU	c.55G>T (p.Gly19Trp)	gnomAD v4
17	g.42536331dup	CA2573154143	NAGLU	c.59dup (p.Ala21ArgfsTer?)	ClinVar dbSNP gnomAD v4
17	g.42536331del	CA626218515	NAGLU	c.59del (p.Gly20AlafsTer?)	dbSNP gnomAD v2 gnomAD v4
17	g.42536328G>A	CA399595106	NAGLU	c.56G>A (p.Gly19Glu)	ClinVar gnomAD v4
17	g.42536328G>C	CA399595109	NAGLU	c.56G>C (p.Gly19Ala)	gnomAD v4
17	g.42536328G>T	CA399595111	NAGLU	c.56G>T (p.Gly19Val)	gnomAD v4
17	g.42536329_42536345dup	CA2637965689	NAGLU	c.57_73dup (p.Glu25GlyfsTer?)	gnomAD v4
17	g.42536329G>A	CA500215716	NAGLU	c.57G>A (p.Gly19=)	ClinVar dbSNP gnomAD v4
17	g.42536329G>C	CA500215714	NAGLU	c.57G>C (p.Gly19=)
17	g.42536329G>T	CA500215715	NAGLU	c.57G>T (p.Gly19=)	gnomAD v4

Number of alleles fetched