Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.42536275_42536292dup	CA2637965457	NAGLU	c.3_20dup (p.Ala7_Ala8insGluAlaValAlaValAla)	gnomAD v4
17	g.42536287_42536292dup	CA290771179	NAGLU	c.15_20dup (p.Ala7_Ala8insValAla)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536287_42536292del	CA2637965475	NAGLU	c.15_20del (p.Val6_Ala7del)	gnomAD v4
17	g.42536286_42536303dup	CA983827519	NAGLU	c.14_31dup (p.Val10_Gly11insAlaValAlaAlaAlaVal)	dbSNP gnomAD v3 gnomAD v4
17	g.42536283_42536294dup	CA2260526666	NAGLU	c.11_22dup (p.Ala7_Ala8insValAlaValAla)	dbSNP
17	g.42536292_42536303dup	CA658823937	NAGLU	c.20_31dup (p.Val10_Gly11insAlaAlaAlaVal)	ClinVar dbSNP
17	g.42536290G>A	CA500215619	NAGLU	c.18G>A (p.Val6=)	ClinVar dbSNP
17	g.42536290G>C	CA500215621	NAGLU	c.18G>C (p.Val6=)	ClinVar dbSNP gnomAD v4
17	g.42536290G=	CA2260526671	NAGLU	c.18G= (p.Val6=)
17	g.42536290G>T	CA500215620	NAGLU	c.18G>T (p.Val6=)	gnomAD v4
17	g.42536291del	CA2637965514	NAGLU	c.19del (p.Ala7ProfsTer?)	gnomAD v4
17	g.42536291G>A	CA399594920	NAGLU	c.19G>A (p.Ala7Thr)	gnomAD v4
17	g.42536291G>C	CA399594918	NAGLU	c.19G>C (p.Ala7Pro)
17	g.42536291G=	CA2260526672	NAGLU	c.19G= (p.Ala7=)
17	g.42536291G>T	CA399594919	NAGLU	c.19G>T (p.Ala7Ser)	dbSNP gnomAD v4
17	g.42536292C>A	CA399594921	NAGLU	c.20C>A (p.Ala7Asp)
17	g.42536292C>G	CA399594922	NAGLU	c.20C>G (p.Ala7Gly)
17	g.42536292C>T	CA399594923	NAGLU	c.20C>T (p.Ala7Val)	gnomAD v4
17	g.42536293C>A	CA500215629	NAGLU	c.21C>A (p.Ala7=)	gnomAD v4
17	g.42536293C=	CA2260526673	NAGLU	c.21C= (p.Ala7=)
17	g.42536293C>G	CA500215627	NAGLU	c.21C>G (p.Ala7=)	ClinVar
17	g.42536293C>T	CA500215628	NAGLU	c.21C>T (p.Ala7=)	ClinVar dbSNP gnomAD v4
17	g.42536294G>A	CA399594924	NAGLU	c.22G>A (p.Ala8Thr)	gnomAD v4
17	g.42536294G>C	CA399594925	NAGLU	c.22G>C (p.Ala8Pro)	gnomAD v4
17	g.42536294G>T	CA399594928	NAGLU	c.22G>T (p.Ala8Ser)	gnomAD v4
17	g.42536295C>A	CA399594932	NAGLU	c.23C>A (p.Ala8Glu)
17	g.42536295C=	CA2260526675	NAGLU	c.23C= (p.Ala8=)
17	g.42536295C>G	CA399594934	NAGLU	c.23C>G (p.Ala8Gly)	gnomAD v4
17	g.42536295C>T	CA399594936	NAGLU	c.23C>T (p.Ala8Val)	dbSNP gnomAD v4
17	g.42536295_42536301del	CA913012306	NAGLU	c.23_29del (p.Ala8GlyfsTer?)
17	g.42536295_42536301delinsCGGCGGT	CA2260526674	NAGLU	c.23_29delinsCGGCGGT (p.Ala8=)
17	g.42536296G>A	CA500215634	NAGLU	c.24G>A (p.Ala8=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42536296G>C	CA500215635	NAGLU	c.24G>C (p.Ala8=)	gnomAD v4
17	g.42536296G>T	CA500215636	NAGLU	c.24G>T (p.Ala8=)	ClinVar gnomAD v4
17	g.42536298_42536303del	CA658823938	NAGLU	c.26_31del (p.Ala9_Val10del)	ClinVar dbSNP
17	g.42536296_42536307del	CA2576295329	NAGLU	c.24_35del (p.Ala9_Val12del)
17	g.42536297G>A	CA399594939	NAGLU	c.25G>A (p.Ala9Thr)	dbSNP gnomAD v4
17	g.42536297G>C	CA399594941	NAGLU	c.25G>C (p.Ala9Pro)
17	g.42536297G=	CA2260526676	NAGLU	c.25G= (p.Ala9=)
17	g.42536297G>T	CA399594943	NAGLU	c.25G>T (p.Ala9Ser)	gnomAD v4
17	g.42536298C>A	CA399594954	NAGLU	c.26C>A (p.Ala9Glu)	gnomAD v4
17	g.42536298C=	CA2260526677	NAGLU	c.26C= (p.Ala9=)
17	g.42536298C>G	CA399594951	NAGLU	c.26C>G (p.Ala9Gly)	ClinVar dbSNP
17	g.42536298C>T	CA399594945	NAGLU	c.26C>T (p.Ala9Val)	ClinVar dbSNP gnomAD v4
17	g.42536299G>A	CA290771190	NAGLU	c.27G>A (p.Ala9=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536299G>C	CA500215640	NAGLU	c.27G>C (p.Ala9=)
17	g.42536299G=	CA2260526678	NAGLU	c.27G= (p.Ala9=)
17	g.42536299G>T	CA500215642	NAGLU	c.27G>T (p.Ala9=)	ClinVar dbSNP gnomAD v4
17	g.42536300G>A	CA399594958	NAGLU	c.28G>A (p.Val10Met)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42536300G>C	CA399594962	NAGLU	c.28G>C (p.Val10Leu)	ClinVar gnomAD v4
17	g.42536300G=	CA2260526679	NAGLU	c.28G= (p.Val10=)
17	g.42536300G>T	CA399594960	NAGLU	c.28G>T (p.Val10Leu)	dbSNP gnomAD v4
17	g.42536301T>A	CA399594966	NAGLU	c.29T>A (p.Val10Glu)
17	g.42536301T>C	CA399594968	NAGLU	c.29T>C (p.Val10Ala)	gnomAD v4
17	g.42536301T>G	CA238572	NAGLU	c.29T>G (p.Val10Gly)	ClinVar dbSNP
17	g.42536301T=	CA2260526680	NAGLU	c.29T= (p.Val10=)
17	g.42536302G>A	CA500215649	NAGLU	c.30G>A (p.Val10=)	dbSNP gnomAD v2 gnomAD v4
17	g.42536302G>C	CA500215651	NAGLU	c.30G>C (p.Val10=)
17	g.42536302G=	CA2260526681	NAGLU	c.30G= (p.Val10=)
17	g.42536302G>T	CA500215650	NAGLU	c.30G>T (p.Val10=)	ClinVar dbSNP gnomAD v4
17	g.42536306dup	CA2580093733	NAGLU	c.34dup (p.Val12GlyfsTer?)	ClinVar gnomAD v4
17	g.42536302_42536303insATCATATT	CA914177570	NAGLU	c.30_31insATCATATT (p.Gly11IlefsTer?)	ClinVar dbSNP gnomAD v2
17	g.42536303G>A	CA399594974	NAGLU	c.31G>A (p.Gly11Arg)	gnomAD v4
17	g.42536303G>C	CA399594976	NAGLU	c.31G>C (p.Gly11Arg)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42536303G=	CA2260526682	NAGLU	c.31G= (p.Gly11=)
17	g.42536303G>T	CA399594978	NAGLU	c.31G>T (p.Gly11Trp)	gnomAD v4
17	g.42536304G>A	CA399594981	NAGLU	c.32G>A (p.Gly11Glu)	gnomAD v4
17	g.42536304G>C	CA399594983	NAGLU	c.32G>C (p.Gly11Ala)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536304G=	CA2260526683	NAGLU	c.32G= (p.Gly11=)
17	g.42536304G>T	CA399594985	NAGLU	c.32G>T (p.Gly11Val)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42536305G>A	CA500215652	NAGLU	c.33G>A (p.Gly11=)
17	g.42536305G>C	CA500215653	NAGLU	c.33G>C (p.Gly11=)
17	g.42536305G>T	CA500215654	NAGLU	c.33G>T (p.Gly11=)	gnomAD v4
17	g.42536306G>A	CA399594989	NAGLU	c.34G>A (p.Val12Ile)	gnomAD v4
17	g.42536306G>C	CA399594991	NAGLU	c.34G>C (p.Val12Leu)	gnomAD v4
17	g.42536306G>T	CA399594993	NAGLU	c.34G>T (p.Val12Phe)	gnomAD v4
17	g.42536307T>A	CA399594997	NAGLU	c.35T>A (p.Val12Asp)	gnomAD v4
17	g.42536307T>C	CA399595001	NAGLU	c.35T>C (p.Val12Ala)	gnomAD v4
17	g.42536307T>G	CA399594999	NAGLU	c.35T>G (p.Val12Gly)	dbSNP
17	g.42536309_42536312dup	CA2637965602	NAGLU	c.37_40dup (p.Leu14ProfsTer?)	gnomAD v4
17	g.42536308C>A	CA500215661	NAGLU	c.36C>A (p.Val12=)	gnomAD v4
17	g.42536308C=	CA2260526684	NAGLU	c.36C= (p.Val12=)
17	g.42536308C>G	CA500215662	NAGLU	c.36C>G (p.Val12=)
17	g.42536308C>T	CA500215659	NAGLU	c.36C>T (p.Val12=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42536309C>A	CA399595003	NAGLU	c.37C>A (p.Leu13Ile)	gnomAD v4
17	g.42536309C=	CA2260526685	NAGLU	c.37C= (p.Leu13=)
17	g.42536309C>G	CA399595005	NAGLU	c.37C>G (p.Leu13Val)	gnomAD v4
17	g.42536309C>T	CA290771208	NAGLU	c.37C>T (p.Leu13Phe)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42536310T>A	CA399595009	NAGLU	c.38T>A (p.Leu13His)	gnomAD v4
17	g.42536310T>C	CA399595011	NAGLU	c.38T>C (p.Leu13Pro)
17	g.42536310T>G	CA399595013	NAGLU	c.38T>G (p.Leu13Arg)
17	g.42536311del	CA2637965611	NAGLU	c.39del (p.Leu14SerfsTer?)	gnomAD v4
17	g.42536310_42536311insC	CA2695226048	NAGLU	c.38_39insC (p.Leu14SerfsTer?)
17	g.42536311T>A	CA500215665	NAGLU	c.39T>A (p.Leu13=)
17	g.42536311T>C	CA500215664	NAGLU	c.39T>C (p.Leu13=)	gnomAD v4
17	g.42536311T>G	CA500215666	NAGLU	c.39T>G (p.Leu13=)	ClinVar
17	g.42536312C>A	CA399595016	NAGLU	c.40C>A (p.Leu14Ile)	ClinVar gnomAD v4
17	g.42536312C>G	CA399595018	NAGLU	c.40C>G (p.Leu14Val)
17	g.42536312C>T	CA399595020	NAGLU	c.40C>T (p.Leu14Phe)	gnomAD v4
17	g.42536314_42536316del	CA2576295330	NAGLU	c.42_44del (p.Leu15del)
17	g.42536313T>A	CA399595036	NAGLU	c.41T>A (p.Leu14His)	gnomAD v4
17	g.42536313T>C	CA290771219	NAGLU	c.41T>C (p.Leu14Pro)	dbSNP gnomAD v3 gnomAD v4
17	g.42536313T>G	CA399595034	NAGLU	c.41T>G (p.Leu14Arg)
17	g.42536313T=	CA2260526686	NAGLU	c.41T= (p.Leu14=)
17	g.42536314C>A	CA500215670	NAGLU	c.42C>A (p.Leu14=)
17	g.42536314C=	CA2260526687	NAGLU	c.42C= (p.Leu14=)
17	g.42536314C>G	CA500215672	NAGLU	c.42C>G (p.Leu14=)	dbSNP gnomAD v4
17	g.42536314C>T	CA500215671	NAGLU	c.42C>T (p.Leu14=)	dbSNP gnomAD v4
17	g.42536315C>A	CA399595042	NAGLU	c.43C>A (p.Leu15Met)	gnomAD v4
17	g.42536315C=	CA2260526688	NAGLU	c.43C= (p.Leu15=)
17	g.42536315C>G	CA399595044	NAGLU	c.43C>G (p.Leu15Val)
17	g.42536315C>T	CA500215675	NAGLU	c.43C>T (p.Leu15=)	dbSNP gnomAD v3 gnomAD v4
17	g.42536316T>A	CA399595047	NAGLU	c.44T>A (p.Leu15Gln)
17	g.42536316T>C	CA399595049	NAGLU	c.44T>C (p.Leu15Pro)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536316T>G	CA399595052	NAGLU	c.44T>G (p.Leu15Arg)
17	g.42536316T=	CA2260526689	NAGLU	c.44T= (p.Leu15=)
17	g.42536317G>A	CA500215682	NAGLU	c.45G>A (p.Leu15=)	gnomAD v4
17	g.42536317G>C	CA500215683	NAGLU	c.45G>C (p.Leu15=)
17	g.42536317G>T	CA500215684	NAGLU	c.45G>T (p.Leu15=)	gnomAD v4
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
17	g.42536330G>A	CA399595116	NAGLU	c.58G>A (p.Gly20Ser)
17	g.42536330G>C	CA399595118	NAGLU	c.58G>C (p.Gly20Arg)
17	g.42536330G>T	CA399595114	NAGLU	c.58G>T (p.Gly20Cys)	gnomAD v4
17	g.42536331G>A	CA399595127	NAGLU	c.59G>A (p.Gly20Asp)	ClinVar dbSNP gnomAD v4
17	g.42536331G>C	CA399595122	NAGLU	c.59G>C (p.Gly20Ala)	dbSNP
17	g.42536331G=	CA2260526698	NAGLU	c.59G= (p.Gly20=)
17	g.42536331G>T	CA399595124	NAGLU	c.59G>T (p.Gly20Val)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42536332C>A	CA500215721	NAGLU	c.60C>A (p.Gly20=)	gnomAD v4
17	g.42536332C=	CA2260526699	NAGLU	c.60C= (p.Gly20=)
17	g.42536332C>G	CA500215722	NAGLU	c.60C>G (p.Gly20=)	gnomAD v4
17	g.42536332C>T	CA500215720	NAGLU	c.60C>T (p.Gly20=)	ClinVar dbSNP gnomAD v4
17	g.42536333G>A	CA399595129	NAGLU	c.61G>A (p.Ala21Thr)	gnomAD v4
17	g.42536333G>C	CA399595131	NAGLU	c.61G>C (p.Ala21Pro)
17	g.42536333G>T	CA399595134	NAGLU	c.61G>T (p.Ala21Ser)	gnomAD v4
17	g.42536338_42536364dup	CA2637965700	NAGLU	c.66_92dup (p.Ala31_Val32insGlyAspGluAlaArgGluAlaAlaAla)	gnomAD v4
17	g.42536334C>A	CA399595135	NAGLU	c.62C>A (p.Ala21Glu)	gnomAD v4
17	g.42536334C>G	CA399595138	NAGLU	c.62C>G (p.Ala21Gly)
17	g.42536334C>T	CA399595140	NAGLU	c.62C>T (p.Ala21Val)	gnomAD v4
17	g.42536335G>A	CA500215739	NAGLU	c.63G>A (p.Ala21=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536335G>C	CA290771242	NAGLU	c.63G>C (p.Ala21=)	dbSNP gnomAD v3 gnomAD v4
17	g.42536335G=	CA2260526700	NAGLU	c.63G= (p.Ala21=)
17	g.42536335G>T	CA500215740	NAGLU	c.63G>T (p.Ala21=)	gnomAD v4
17	g.42536336G>A	CA399595146	NAGLU	c.64G>A (p.Ala22Thr)	gnomAD v4
17	g.42536336G>C	CA399595148	NAGLU	c.64G>C (p.Ala22Pro)
17	g.42536336G>T	CA399595150	NAGLU	c.64G>T (p.Ala22Ser)	gnomAD v4
17	g.42536337C>A	CA399595153	NAGLU	c.65C>A (p.Ala22Glu)	gnomAD v4
17	g.42536337C>G	CA399595155	NAGLU	c.65C>G (p.Ala22Gly)
17	g.42536337C>T	CA399595158	NAGLU	c.65C>T (p.Ala22Val)	gnomAD v4
17	g.42536338A>C	CA500215747	NAGLU	c.66A>C (p.Ala22=)
17	g.42536338A>G	CA500215750	NAGLU	c.66A>G (p.Ala22=)	gnomAD v4
17	g.42536338A>T	CA500215749	NAGLU	c.66A>T (p.Ala22=)
17	g.42536343_42536359del	CA2499224326	NAGLU	c.71_87del (p.Asp24GlyfsTer?)	ClinVar dbSNP
17	g.42536339G>A	CA399595161	NAGLU	c.67G>A (p.Gly23Ser)	gnomAD v4
17	g.42536339G>C	CA399595164	NAGLU	c.67G>C (p.Gly23Arg)
17	g.42536339G>T	CA399595162	NAGLU	c.67G>T (p.Gly23Cys)
17	g.42536340G>A	CA399595167	NAGLU	c.68G>A (p.Gly23Asp)	gnomAD v4
17	g.42536340G>C	CA399595169	NAGLU	c.68G>C (p.Gly23Ala)	dbSNP gnomAD v3 gnomAD v4
17	g.42536340G=	CA2260526701	NAGLU	c.68G= (p.Gly23=)
17	g.42536340G>T	CA399595172	NAGLU	c.68G>T (p.Gly23Val)	gnomAD v4
17	g.42536341C>A	CA500215753	NAGLU	c.69C>A (p.Gly23=)	dbSNP gnomAD v3 gnomAD v4
17	g.42536341C=	CA2260526702	NAGLU	c.69C= (p.Gly23=)
17	g.42536341C>G	CA500215755	NAGLU	c.69C>G (p.Gly23=)	ClinVar dbSNP gnomAD v4
17	g.42536341C>T	CA500215758	NAGLU	c.69C>T (p.Gly23=)	dbSNP gnomAD v4
17	g.42536342G>A	CA399595175	NAGLU	c.70G>A (p.Asp24Asn)	gnomAD v4
17	g.42536342G>C	CA399595177	NAGLU	c.70G>C (p.Asp24His)
17	g.42536342G>T	CA399595179	NAGLU	c.70G>T (p.Asp24Tyr)	gnomAD v4
17	g.42536343A>C	CA399595182	NAGLU	c.71A>C (p.Asp24Ala)
17	g.42536343A>G	CA399595184	NAGLU	c.71A>G (p.Asp24Gly)	gnomAD v4
17	g.42536343A>T	CA399595187	NAGLU	c.71A>T (p.Asp24Val)
17	g.42536344C>A	CA399595190	NAGLU	c.72C>A (p.Asp24Glu)	gnomAD v4
17	g.42536344C>G	CA399595195	NAGLU	c.72C>G (p.Asp24Glu)	gnomAD v4
17	g.42536344C>T	CA500215765	NAGLU	c.72C>T (p.Asp24=)	gnomAD v4
17	g.42536345G>A	CA399595198	NAGLU	c.73G>A (p.Glu25Lys)	ClinVar dbSNP gnomAD v4
17	g.42536345G>C	CA399595203	NAGLU	c.73G>C (p.Glu25Gln)
17	g.42536345G=	CA2260526703	NAGLU	c.73G= (p.Glu25=)
17	g.42536345G>T	CA399595200	NAGLU	c.73G>T (p.Glu25Ter)
17	g.42536346A>C	CA399595207	NAGLU	c.74A>C (p.Glu25Ala)
17	g.42536346A>G	CA399595208	NAGLU	c.74A>G (p.Glu25Gly)	ClinVar gnomAD v4
17	g.42536346A>T	CA399595211	NAGLU	c.74A>T (p.Glu25Val)	gnomAD v4
17	g.42536346_42536379delinsAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGT	CA2260526704	NAGLU	c.74_107delinsAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGT (p.Glu25=)
17	g.42536347G>A	CA500215771	NAGLU	c.75G>A (p.Glu25=)	gnomAD v4
17	g.42536347G>C	CA399595214	NAGLU	c.75G>C (p.Glu25Asp)
17	g.42536347G>T	CA399595216	NAGLU	c.75G>T (p.Glu25Asp)	gnomAD v4
17	g.42536354_42536386del	CA1139665539	NAGLU	c.82_114del (p.Glu28_Arg38del)	ClinVar dbSNP
17	g.42536348G>A	CA399595220	NAGLU	c.76G>A (p.Ala26Thr)	gnomAD v4
17	g.42536348G>C	CA399595222	NAGLU	c.76G>C (p.Ala26Pro)
17	g.42536348G=	CA2260526705	NAGLU	c.76G= (p.Ala26=)
17	g.42536348G>T	CA399595224	NAGLU	c.76G>T (p.Ala26Ser)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42536349C>A	CA399595227	NAGLU	c.77C>A (p.Ala26Asp)	ClinVar dbSNP gnomAD v4
17	g.42536349C=	CA2260526706	NAGLU	c.77C= (p.Ala26=)
17	g.42536349C>G	CA399595230	NAGLU	c.77C>G (p.Ala26Gly)
17	g.42536349C>T	CA290771244	NAGLU	c.77C>T (p.Ala26Val)	ClinVar dbSNP gnomAD v4
17	g.42536351del	CA2637965716	NAGLU	c.79del (p.Arg27GlyfsTer?)	gnomAD v4
17	g.42536350C>A	CA500215780	NAGLU	c.78C>A (p.Ala26=)	gnomAD v4
17	g.42536350C=	CA2260526707	NAGLU	c.78C= (p.Ala26=)
17	g.42536350C>G	CA500215783	NAGLU	c.78C>G (p.Ala26=)	ClinVar dbSNP
17	g.42536350C>T	CA500215781	NAGLU	c.78C>T (p.Ala26=)	gnomAD v4
17	g.42536351C>A	CA500215784	NAGLU	c.79C>A (p.Arg27=)	gnomAD v4
17	g.42536351C>G	CA399595234	NAGLU	c.79C>G (p.Arg27Gly)	gnomAD v4
17	g.42536351C>T	CA399595237	NAGLU	c.79C>T (p.Arg27Trp)	gnomAD v4
17	g.42536351_42536352del	CA913012307	NAGLU	c.79_80del (p.Arg27GlyfsTer?)
17	g.42536351_42536352delinsCG	CA2260526708	NAGLU	c.79_80delinsCG (p.Arg27=)
17	g.42536352G>A	CA399595240	NAGLU	c.80G>A (p.Arg27Gln)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536352G>C	CA399595245	NAGLU	c.80G>C (p.Arg27Pro)	gnomAD v4
17	g.42536352G=	CA2260526709	NAGLU	c.80G= (p.Arg27=)
17	g.42536352G>T	CA399595242	NAGLU	c.80G>T (p.Arg27Leu)	gnomAD v4
17	g.42536354dup	CA2580093742	NAGLU	c.82dup (p.Glu28GlyfsTer?)	ClinVar
17	g.42536352_42536354dup	CA2580093741	NAGLU	c.80_82dup (p.Arg27_Glu28insGly)	ClinVar
17	g.42536354del	CA626218516	NAGLU	c.82del (p.Glu28ArgfsTer?)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.42536353G>A	CA500215789	NAGLU	c.81G>A (p.Arg27=)	gnomAD v4
17	g.42536353G>C	CA290771255	NAGLU	c.81G>C (p.Arg27=)	ClinVar dbSNP gnomAD v4
17	g.42536353G=	CA2260526710	NAGLU	c.81G= (p.Arg27=)
17	g.42536353G>T	CA500215788	NAGLU	c.81G>T (p.Arg27=)	ClinVar dbSNP gnomAD v4
17	g.42536354G>A	CA399595247	NAGLU	c.82G>A (p.Glu28Lys)
17	g.42536354G>C	CA399595249	NAGLU	c.82G>C (p.Glu28Gln)
17	g.42536354G>T	CA399595251	NAGLU	c.82G>T (p.Glu28Ter)	gnomAD v4
17	g.42536354_42536359delinsTGTATAAGAGACA	CA2580093743	NAGLU	c.82_87delinsTGTATAAGAGACA (p.Glu28CysfsTer?)	ClinVar
17	g.42536355A>C	CA399595253	NAGLU	c.83A>C (p.Glu28Ala)
17	g.42536355A>G	CA399595256	NAGLU	c.83A>G (p.Glu28Gly)	gnomAD v4
17	g.42536355A>T	CA399595258	NAGLU	c.83A>T (p.Glu28Val)	gnomAD v4
17	g.42536356G>A	CA500215794	NAGLU	c.84G>A (p.Glu28=)	gnomAD v4
17	g.42536356G>C	CA399595261	NAGLU	c.84G>C (p.Glu28Asp)
17	g.42536356G>T	CA399595262	NAGLU	c.84G>T (p.Glu28Asp)	gnomAD v4
17	g.42536357G>A	CA399595266	NAGLU	c.85G>A (p.Ala29Thr)	gnomAD v4
17	g.42536357G>C	CA399595267	NAGLU	c.85G>C (p.Ala29Pro)
17	g.42536357G>T	CA399595269	NAGLU	c.85G>T (p.Ala29Ser)	gnomAD v4
17	g.42536358C>A	CA399595275	NAGLU	c.86C>A (p.Ala29Glu)	gnomAD v4
17	g.42536358C>G	CA399595276	NAGLU	c.86C>G (p.Ala29Gly)
17	g.42536358C>T	CA399595272	NAGLU	c.86C>T (p.Ala29Val)	gnomAD v4
17	g.42536359G>A	CA500215805	NAGLU	c.87G>A (p.Ala29=)	ClinVar dbSNP gnomAD v4
17	g.42536359G>C	CA500215803	NAGLU	c.87G>C (p.Ala29=)
17	g.42536359G=	CA2260526711	NAGLU	c.87G= (p.Ala29=)
17	g.42536359G>T	CA500215804	NAGLU	c.87G>T (p.Ala29=)
17	g.42536360G>A	CA399595283	NAGLU	c.88G>A (p.Ala30Thr)	gnomAD v4
17	g.42536360G>C	CA399595279	NAGLU	c.88G>C (p.Ala30Pro)
17	g.42536360G>T	CA399595281	NAGLU	c.88G>T (p.Ala30Ser)
17	g.42536361C>A	CA399595286	NAGLU	c.89C>A (p.Ala30Glu)	gnomAD v4
17	g.42536361C>G	CA399595288	NAGLU	c.89C>G (p.Ala30Gly)
17	g.42536361C>T	CA399595290	NAGLU	c.89C>T (p.Ala30Val)	gnomAD v4
17	g.42536362G>A	CA500215806	NAGLU	c.90G>A (p.Ala30=)	ClinVar dbSNP gnomAD v4
17	g.42536362G>C	CA500215808	NAGLU	c.90G>C (p.Ala30=)
17	g.42536362G>T	CA500215807	NAGLU	c.90G>T (p.Ala30=)	gnomAD v4
17	g.42536363G>A	CA399595293	NAGLU	c.91G>A (p.Ala31Thr)	gnomAD v4
17	g.42536363G>C	CA399595292	NAGLU	c.91G>C (p.Ala31Pro)	gnomAD v4
17	g.42536363G>T	CA399595291	NAGLU	c.91G>T (p.Ala31Ser)	gnomAD v4
17	g.42536364C>A	CA399595294	NAGLU	c.92C>A (p.Ala31Asp)	gnomAD v4
17	g.42536364C=	CA2260526712	NAGLU	c.92C= (p.Ala31=)
17	g.42536364C>G	CA399595295	NAGLU	c.92C>G (p.Ala31Gly)	ClinVar gnomAD v4
17	g.42536364C>T	CA399595296	NAGLU	c.92C>T (p.Ala31Val)	dbSNP gnomAD v4
17	g.42536365C>A	CA500215812	NAGLU	c.93C>A (p.Ala31=)	gnomAD v4
17	g.42536365C=	CA2260526713	NAGLU	c.93C= (p.Ala31=)
17	g.42536365C>G	CA500215813	NAGLU	c.93C>G (p.Ala31=)
17	g.42536365C>T	CA500215810	NAGLU	c.93C>T (p.Ala31=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536366G>A	CA399595297	NAGLU	c.94G>A (p.Val32Met)	gnomAD v4
17	g.42536366G>C	CA399595298	NAGLU	c.94G>C (p.Val32Leu)
17	g.42536366G=	CA2260526714	NAGLU	c.94G= (p.Val32=)
17	g.42536366G>T	CA399595299	NAGLU	c.94G>T (p.Val32Leu)	dbSNP
17	g.42536367T>A	CA399595300	NAGLU	c.95T>A (p.Val32Glu)
17	g.42536367T>C	CA399595302	NAGLU	c.95T>C (p.Val32Ala)	ClinVar gnomAD v4
17	g.42536367T>G	CA399595301	NAGLU	c.95T>G (p.Val32Gly)
17	g.42536368G>A	CA500215818	NAGLU	c.96G>A (p.Val32=)	dbSNP gnomAD v4
17	g.42536368G>C	CA500215819	NAGLU	c.96G>C (p.Val32=)
17	g.42536368G=	CA2260526715	NAGLU	c.96G= (p.Val32=)
17	g.42536368G>T	CA500215816	NAGLU	c.96G>T (p.Val32=)	gnomAD v4
17	g.42536369C>A	CA500215820	NAGLU	c.97C>A (p.Arg33=)	gnomAD v4
17	g.42536369C>G	CA399595303	NAGLU	c.97C>G (p.Arg33Gly)
17	g.42536369C>T	CA399595304	NAGLU	c.97C>T (p.Arg33Trp)	gnomAD v4 COSMIC
17	g.42536370G>A	CA399595305	NAGLU	c.98G>A (p.Arg33Gln)	gnomAD v4
17	g.42536370G>C	CA399595306	NAGLU	c.98G>C (p.Arg33Pro)
17	g.42536370G>T	CA399595307	NAGLU	c.98G>T (p.Arg33Leu)	gnomAD v4
17	g.42536371G>A	CA500215826	NAGLU	c.99G>A (p.Arg33=)	ClinVar dbSNP gnomAD v4
17	g.42536371G>C	CA500215827	NAGLU	c.99G>C (p.Arg33=)	gnomAD v4
17	g.42536371G>T	CA500215828	NAGLU	c.99G>T (p.Arg33=)	gnomAD v4
17	g.42536372G>A	CA399595308	NAGLU	c.100G>A (p.Ala34Thr)	gnomAD v4
17	g.42536372G>C	CA399595309	NAGLU	c.100G>C (p.Ala34Pro)	ClinVar dbSNP
17	g.42536372G=	CA2260526716	NAGLU	c.100G= (p.Ala34=)
17	g.42536372G>T	CA399595310	NAGLU	c.100G>T (p.Ala34Ser)	gnomAD v4
17	g.42536373C>A	CA399595311	NAGLU	c.101C>A (p.Ala34Glu)	gnomAD v4
17	g.42536373C>G	CA399595312	NAGLU	c.101C>G (p.Ala34Gly)
17	g.42536373C>T	CA399595313	NAGLU	c.101C>T (p.Ala34Val)	gnomAD v4
17	g.42536374G>A	CA500215833	NAGLU	c.102G>A (p.Ala34=)	gnomAD v4
17	g.42536374G>C	CA500215836	NAGLU	c.102G>C (p.Ala34=)	gnomAD v4
17	g.42536374G>T	CA500215834	NAGLU	c.102G>T (p.Ala34=)	gnomAD v4
17	g.42536375C>A	CA399595316	NAGLU	c.103C>A (p.Leu35Ile)	gnomAD v4
17	g.42536375C>G	CA399595315	NAGLU	c.103C>G (p.Leu35Val)
17	g.42536375C>T	CA399595314	NAGLU	c.103C>T (p.Leu35Phe)	ClinVar dbSNP gnomAD v4
17	g.42536376T>A	CA399595317	NAGLU	c.104T>A (p.Leu35His)
17	g.42536376T>C	CA399595319	NAGLU	c.104T>C (p.Leu35Pro)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536376T>G	CA399595318	NAGLU	c.104T>G (p.Leu35Arg)
17	g.42536376T=	CA2260526717	NAGLU	c.104T= (p.Leu35=)
17	g.42536377C>A	CA500215850	NAGLU	c.105C>A (p.Leu35=)	gnomAD v4
17	g.42536377C=	CA2260526718	NAGLU	c.105C= (p.Leu35=)
17	g.42536377C>G	CA500215848	NAGLU	c.105C>G (p.Leu35=)	gnomAD v4
17	g.42536377C>T	CA290771258	NAGLU	c.105C>T (p.Leu35=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42536379_42536385del	CA2637965723	NAGLU	c.107_113del (p.Val36GlyfsTer?)	gnomAD v4
17	g.42536378G>A	CA399595320	NAGLU	c.106G>A (p.Val36Met)	gnomAD v4
17	g.42536378G>C	CA399595321	NAGLU	c.106G>C (p.Val36Leu)	gnomAD v4
17	g.42536378G>T	CA399595322	NAGLU	c.106G>T (p.Val36Leu)	gnomAD v4
17	g.42536379T>A	CA399595323	NAGLU	c.107T>A (p.Val36Glu)
17	g.42536379T>C	CA399595324	NAGLU	c.107T>C (p.Val36Ala)	gnomAD v4
17	g.42536379T>G	CA399595325	NAGLU	c.107T>G (p.Val36Gly)	gnomAD v4
17	g.42536380G>A	CA500215854	NAGLU	c.108G>A (p.Val36=)	dbSNP gnomAD v3 gnomAD v4
17	g.42536380G>C	CA500215855	NAGLU	c.108G>C (p.Val36=)
17	g.42536380G=	CA2260526719	NAGLU	c.108G= (p.Val36=)
17	g.42536380G>T	CA500215853	NAGLU	c.108G>T (p.Val36=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42536381G>A	CA399595326	NAGLU	c.109G>A (p.Ala37Thr)	gnomAD v4
17	g.42536381G>C	CA399595327	NAGLU	c.109G>C (p.Ala37Pro)	gnomAD v4
17	g.42536381G=	CA2260526720	NAGLU	c.109G= (p.Ala37=)
17	g.42536381G>T	CA399595328	NAGLU	c.109G>T (p.Ala37Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536382C>A	CA399595329	NAGLU	c.110C>A (p.Ala37Asp)	gnomAD v4
17	g.42536382C>G	CA399595330	NAGLU	c.110C>G (p.Ala37Gly)	gnomAD v4
17	g.42536382C>T	CA399595331	NAGLU	c.110C>T (p.Ala37Val)	gnomAD v4
17	g.42536384del	CA2637965729	NAGLU	c.112del (p.Arg38GlyfsTer?)	gnomAD v4
17	g.42536383C>A	CA500215866	NAGLU	c.111C>A (p.Ala37=)	gnomAD v4
17	g.42536383C>G	CA500215863	NAGLU	c.111C>G (p.Ala37=)	ClinVar dbSNP gnomAD v4
17	g.42536383C>T	CA500215869	NAGLU	c.111C>T (p.Ala37=)	gnomAD v4
17	g.42536383_42536392delinsAGCC	CA2580093746	NAGLU	c.111_120delinsAGCC (p.Arg38_Leu40delinsAla)	ClinVar dbSNP
17	g.42536384C>A	CA500215871	NAGLU	c.112C>A (p.Arg38=)	dbSNP gnomAD v4
17	g.42536384C=	CA2260526721	NAGLU	c.112C= (p.Arg38=)
17	g.42536384C>G	CA399595332	NAGLU	c.112C>G (p.Arg38Gly)
17	g.42536384C>T	CA399595333	NAGLU	c.112C>T (p.Arg38Trp)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42536385G>A	CA399595334	NAGLU	c.113G>A (p.Arg38Gln)	gnomAD v4
17	g.42536385G>C	CA399595335	NAGLU	c.113G>C (p.Arg38Pro)	gnomAD v4
17	g.42536385G>T	CA399595336	NAGLU	c.113G>T (p.Arg38Leu)	gnomAD v4
17	g.42536387_42536394del	CA2573154144	NAGLU	c.115_122del (p.Leu39AlafsTer?)	dbSNP
17	g.42536386G>A	CA500215872	NAGLU	c.114G>A (p.Arg38=)	gnomAD v4
17	g.42536386G>C	CA500215875	NAGLU	c.114G>C (p.Arg38=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42536386G=	CA2260526722	NAGLU	c.114G= (p.Arg38=)
17	g.42536386G>T	CA500215873	NAGLU	c.114G>T (p.Arg38=)	gnomAD v4
17	g.42536387C>A	CA399595337	NAGLU	c.115C>A (p.Leu39Met)	gnomAD v4
17	g.42536387C>G	CA399595338	NAGLU	c.115C>G (p.Leu39Val)	gnomAD v4
17	g.42536387C>T	CA500215877	NAGLU	c.115C>T (p.Leu39=)	ClinVar dbSNP gnomAD v4
17	g.42536388T>A	CA399595339	NAGLU	c.116T>A (p.Leu39Gln)
17	g.42536388T>C	CA399595340	NAGLU	c.116T>C (p.Leu39Pro)	gnomAD v4
17	g.42536388T>G	CA399595341	NAGLU	c.116T>G (p.Leu39Arg)
17	g.42536389G>A	CA500215878	NAGLU	c.117G>A (p.Leu39=)	dbSNP gnomAD v4
17	g.42536389G>C	CA500215879	NAGLU	c.117G>C (p.Leu39=)
17	g.42536389G=	CA2260526723	NAGLU	c.117G= (p.Leu39=)
17	g.42536389G>T	CA500215881	NAGLU	c.117G>T (p.Leu39=)	gnomAD v4
17	g.42536390C>A	CA399595342	NAGLU	c.118C>A (p.Leu40Met)	gnomAD v4
17	g.42536390C>G	CA399595343	NAGLU	c.118C>G (p.Leu40Val)	gnomAD v4
17	g.42536390C>T	CA500215884	NAGLU	c.118C>T (p.Leu40=)	gnomAD v4

Number of alleles fetched