Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.42536255_42536256delinsAC	CA2260526645	NAGLU	c.-18_-17delinsAC (n.-18_-17delinsAC)
17	g.42536256C>A	CA2576295323	NAGLU	c.-17C>A (n.-17C>A)
17	g.42536256C=	CA2260526646	NAGLU	c.-17C= (n.-17C=)
17	g.42536256C>G	CA290771112	NAGLU	c.-17C>G (n.-17C>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536256C>T	CA772108939	NAGLU	c.-17C>T (n.-17C>T)	dbSNP gnomAD v3 gnomAD v4
17	g.42536258del	CA2260526647	NAGLU	c.-15del (n.-15del)	dbSNP gnomAD v4
17	g.42536257C>A	CA2260526649	NAGLU	c.-16C>A (n.-16C>A)	dbSNP gnomAD v4
17	g.42536257C=	CA2260526648	NAGLU	c.-16C= (n.-16C=)
17	g.42536257C>G	CA290771124	NAGLU	c.-16C>G (n.-16C>G)	dbSNP gnomAD v3 gnomAD v4
17	g.42536257C>T	CA2260526650	NAGLU	c.-16C>T (n.-16C>T)	dbSNP
17	g.42536258C>A	CA2637965409	NAGLU	c.-15C>A (n.-15C>A)	gnomAD v4
17	g.42536258C=	CA2260526651	NAGLU	c.-15C= (n.-15C=)
17	g.42536258C>G	CA2637965410	NAGLU	c.-15C>G (n.-15C>G)	gnomAD v4
17	g.42536258C>T	CA626055662	NAGLU	c.-15C>T (n.-15C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536259G>A	CA2576295324	NAGLU	c.-14G>A (n.-14G>A)	gnomAD v4
17	g.42536259G>T	CA2637965412	NAGLU	c.-14G>T (n.-14G>T)	gnomAD v4
17	g.42536260C>A	CA2637965415	NAGLU	c.-13C>A (n.-13C>A)	gnomAD v4
17	g.42536260C>G	CA2637965414	NAGLU	c.-13C>G (n.-13C>G)	gnomAD v4
17	g.42536260C>T	CA2637965413	NAGLU	c.-13C>T (n.-13C>T)	gnomAD v4
17	g.42536261A=	CA2260526652	NAGLU	c.-12A= (n.-12A=)
17	g.42536261A>C	CA290771133	NAGLU	c.-12A>C (n.-12A>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536261A>G	CA2576295325	NAGLU	c.-12A>G (n.-12A>G)	gnomAD v4
17	g.42536261A>T	CA2637965417	NAGLU	c.-12A>T (n.-12A>T)	gnomAD v4
17	g.42536262G>A	CA2260526654	NAGLU	c.-11G>A (n.-11G>A)	dbSNP gnomAD v3 gnomAD v4
17	g.42536262G>C	CA2733698679	NAGLU	c.-11G>C (n.-11G>C)	dbSNP
17	g.42536262G=	CA2260526653	NAGLU	c.-11G= (n.-11G=)
17	g.42536262G>T	CA2637965422	NAGLU	c.-11G>T (n.-11G>T)	gnomAD v4
17	g.42536263G>A	CA290771137	NAGLU	c.-10G>A (n.-10G>A)	dbSNP gnomAD v4
17	g.42536263G>C	CA2576295326	NAGLU	c.-10G>C (n.-10G>C)	gnomAD v4
17	g.42536263G=	CA2260526655	NAGLU	c.-10G= (n.-10G=)
17	g.42536263G>T	CA2637965423	NAGLU	c.-10G>T (n.-10G>T)	gnomAD v4
17	g.42536264A=	CA2260526656	NAGLU	c.-9A= (n.-9A=)
17	g.42536264A>G	CA290771146	NAGLU	c.-9A>G (n.-9A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536264A>T	CA2637965425	NAGLU	c.-9A>T (n.-9A>T)	gnomAD v4
17	g.42536265C>A	CA2637965427	NAGLU	c.-8C>A (n.-8C>A)	gnomAD v4
17	g.42536265C>T	CA2637965428	NAGLU	c.-8C>T (n.-8C>T)	gnomAD v4
17	g.42536266T>C	CA2637965429	NAGLU	c.-7T>C (n.-7T>C)	gnomAD v4
17	g.42536266T>G	CA2576295327	NAGLU	c.-7T>G (n.-7T>G)
17	g.42536267G>A	CA2637965430	NAGLU	c.-6G>A (n.-6G>A)	gnomAD v4
17	g.42536267G>T	CA2637965431	NAGLU	c.-6G>T (n.-6G>T)	dbSNP gnomAD v4
17	g.42536268A>G	CA2637965433	NAGLU	c.-5A>G (n.-5A>G)	gnomAD v4
17	g.42536269G>A	CA626055663	NAGLU	c.-4G>A (n.-4G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536269G=	CA2260526657	NAGLU	c.-4G= (n.-4G=)
17	g.42536269G>T	CA399594809	NAGLU	c.-4G>T (n.-4G>T)	dbSNP gnomAD v4
17	g.42536270A=	CA2260526658	NAGLU	c.-3A= (n.-3A=)
17	g.42536270A>G	CA290771152	NAGLU	c.-3A>G (n.-3A>G)	dbSNP gnomAD v3 gnomAD v4
17	g.42536271C>A	CA2637965436	NAGLU	c.-2C>A (n.-2C>A)	gnomAD v4
17	g.42536271C>G	CA2576295328	NAGLU	c.-2C>G (n.-2C>G)	gnomAD v4
17	g.42536271C>T	CA2637965437	NAGLU	c.-2C>T (n.-2C>T)	gnomAD v4
17	g.42536271_42536272insGCCCCGAAACGTACGCCGTCACGTACGCAGGCCGCCCGAAGCGCA	CA2809524817	NAGLU	c.-2_-1insGCCCCGAAACGTACGCCGTCACGTACGCAGGCCGCCCGAAGCGCA (n.-2_-1insGCCCCGAAACGTACGCCGTCACGTACGCAGGCCGCCCGAAGCGCA)
17	g.42536272C>A	CA2637965439	NAGLU	c.-1C>A (n.-1C>A)	gnomAD v4
17	g.42536272C>G	CA2637965440	NAGLU	c.-1C>G (n.-1C>G)	gnomAD v4
17	g.42536272C>T	CA2637965441	NAGLU	c.-1C>T (n.-1C>T)	gnomAD v4
17	g.42536273A=	CA2260526659	NAGLU	c.1A= (p.Met1=)
17	g.42536273A>C	CA399594813	NAGLU	c.1A>C (p.Met1Leu)
17	g.42536273A>G	CA399594810	NAGLU	c.1A>G (p.Met1Val)	ClinVar dbSNP gnomAD v4
17	g.42536273A>T	CA399594811	NAGLU	c.1A>T (p.Met1Leu)	dbSNP gnomAD v3 gnomAD v4
17	g.42536274T>A	CA399594815	NAGLU	c.2T>A (p.Met1Lys)	gnomAD v4
17	g.42536274T>C	CA290771159	NAGLU	c.2T>C (p.Met1Thr)	ClinVar dbSNP gnomAD v4
17	g.42536274T>G	CA399594819	NAGLU	c.2T>G (p.Met1Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536274T=	CA2260526660	NAGLU	c.2T= (p.Met1=)
17	g.42536274dup	CA913012303	NAGLU	c.2dup (p.Met1IlefsTer?)
17	g.42536275G>A	CA399594823	NAGLU	c.3G>A (p.Met1Ile)	ClinVar dbSNP gnomAD v4
17	g.42536275G>C	CA399594825	NAGLU	c.3G>C (p.Met1Ile)
17	g.42536275G>T	CA399594826	NAGLU	c.3G>T (p.Met1Ile)	gnomAD v4
17	g.42536277_42536282dup	CA658823935	NAGLU	c.5_10dup (p.Ala3_Val4insGluAla)	ClinVar dbSNP gnomAD v4
17	g.42536275_42536292dup	CA2637965457	NAGLU	c.3_20dup (p.Ala7_Ala8insGluAlaValAlaValAla)	gnomAD v4
17	g.42536276G>A	CA399594828	NAGLU	c.4G>A (p.Glu2Lys)	gnomAD v4
17	g.42536276G>C	CA399594831	NAGLU	c.4G>C (p.Glu2Gln)
17	g.42536276G=	CA2260526661	NAGLU	c.4G= (p.Glu2=)
17	g.42536276G>T	CA399594833	NAGLU	c.4G>T (p.Glu2Ter)	ClinVar dbSNP gnomAD v4
17	g.42536277A=	CA2260526662	NAGLU	c.5A= (p.Glu2=)
17	g.42536277A>C	CA399594840	NAGLU	c.5A>C (p.Glu2Ala)
17	g.42536277A>G	CA290771162	NAGLU	c.5A>G (p.Glu2Gly)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42536277A>T	CA399594837	NAGLU	c.5A>T (p.Glu2Val)	gnomAD v4
17	g.42536278G>A	CA500075392	NAGLU	c.6G>A (p.Glu2=)
17	g.42536278G>C	CA399594842	NAGLU	c.6G>C (p.Glu2Asp)	gnomAD v4
17	g.42536278G>T	CA399594845	NAGLU	c.6G>T (p.Glu2Asp)
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.42536279G>A	CA399594849	NAGLU	c.7G>A (p.Ala3Thr)
17	g.42536279G>C	CA399594881	NAGLU	c.7G>C (p.Ala3Pro)
17	g.42536279G=	CA2260526663	NAGLU	c.7G= (p.Ala3=)
17	g.42536279G>T	CA290771185	NAGLU	c.7G>T (p.Ala3Ser)	ClinVar dbSNP gnomAD v4
17	g.42536280C>A	CA399594886	NAGLU	c.8C>A (p.Ala3Glu)	gnomAD v4
17	g.42536280C=	CA2260526664	NAGLU	c.8C= (p.Ala3=)
17	g.42536280C>G	CA399594888	NAGLU	c.8C>G (p.Ala3Gly)	dbSNP
17	g.42536280C>T	CA399594890	NAGLU	c.8C>T (p.Ala3Val)	ClinVar dbSNP gnomAD v4
17	g.42536281G>A	CA500075395	NAGLU	c.9G>A (p.Ala3=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536281G>C	CA500075393	NAGLU	c.9G>C (p.Ala3=)
17	g.42536281G=	CA2260526665	NAGLU	c.9G= (p.Ala3=)
17	g.42536281G>T	CA500075394	NAGLU	c.9G>T (p.Ala3=)	dbSNP gnomAD v3 gnomAD v4
17	g.42536283_42536285del	CA2809524818	NAGLU	c.11_13del (p.Val4del)
17	g.42536282G>A	CA399594894	NAGLU	c.10G>A (p.Val4Met)	gnomAD v4
17	g.42536282G>C	CA399594898	NAGLU	c.10G>C (p.Val4Leu)
17	g.42536282G>T	CA399594900	NAGLU	c.10G>T (p.Val4Leu)	gnomAD v4
17	g.42536283_42536287del	CA913012304	NAGLU	c.11_15del (p.Val4GlyfsTer?)
17	g.42536283_42536294dup	CA2260526666	NAGLU	c.11_22dup (p.Ala7_Ala8insValAlaValAla)	dbSNP
17	g.42536283T>A	CA399594903	NAGLU	c.11T>A (p.Val4Glu)
17	g.42536283T>C	CA399594904	NAGLU	c.11T>C (p.Val4Ala)
17	g.42536283T>G	CA399594902	NAGLU	c.11T>G (p.Val4Gly)
17	g.42536283T=	CA2260526668	NAGLU	c.11T= (p.Val4=)
17	g.42536283dup	CA913012305	NAGLU	c.11dup (p.Ala5GlyfsTer?)
17	g.42536283_42536287delinsTGGCG	CA2260526667	NAGLU	c.11_15delinsTGGCG (p.Val4=)
17	g.42536284G>A	CA500215609	NAGLU	c.12G>A (p.Val4=)	ClinVar gnomAD v4
17	g.42536284G>C	CA500215610	NAGLU	c.12G>C (p.Val4=)
17	g.42536284G>T	CA500215608	NAGLU	c.12G>T (p.Val4=)	gnomAD v4
17	g.42536285del	CA2809524819	NAGLU	c.13del (p.Ala5ArgfsTer?)
17	g.42536285_42536288del	CA658823936	NAGLU	c.13_16del (p.Ala5TrpfsTer?)	ClinVar dbSNP
17	g.42536292_42536303dup	CA658823937	NAGLU	c.20_31dup (p.Val10_Gly11insAlaAlaAlaVal)	ClinVar dbSNP
17	g.42536285G>A	CA399594905	NAGLU	c.13G>A (p.Ala5Thr)	gnomAD v4
17	g.42536285G>C	CA399594906	NAGLU	c.13G>C (p.Ala5Pro)
17	g.42536285G>T	CA399594908	NAGLU	c.13G>T (p.Ala5Ser)	gnomAD v4
17	g.42536286C>A	CA399594909	NAGLU	c.14C>A (p.Ala5Glu)	gnomAD v4
17	g.42536286C=	CA2260526669	NAGLU	c.14C= (p.Ala5=)
17	g.42536286C>G	CA399594910	NAGLU	c.14C>G (p.Ala5Gly)
17	g.42536286C>T	CA399594911	NAGLU	c.14C>T (p.Ala5Val)	ClinVar dbSNP gnomAD v4
17	g.42536287G>A	CA500215614	NAGLU	c.15G>A (p.Ala5=)	ClinVar dbSNP gnomAD v4
17	g.42536287G>C	CA500215613	NAGLU	c.15G>C (p.Ala5=)
17	g.42536287G=	CA2260526670	NAGLU	c.15G= (p.Ala5=)
17	g.42536287G>T	CA500215615	NAGLU	c.15G>T (p.Ala5=)	ClinVar dbSNP gnomAD v4 COSMIC
17	g.42536288G>A	CA399594912	NAGLU	c.16G>A (p.Val6Met)	gnomAD v4
17	g.42536288G>C	CA399594913	NAGLU	c.16G>C (p.Val6Leu)
17	g.42536288G>T	CA399594914	NAGLU	c.16G>T (p.Val6Leu)	gnomAD v4
17	g.42536289T>A	CA399594915	NAGLU	c.17T>A (p.Val6Glu)
17	g.42536289T>C	CA399594916	NAGLU	c.17T>C (p.Val6Ala)
17	g.42536289T>G	CA399594917	NAGLU	c.17T>G (p.Val6Gly)	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

Number of alleles fetched