Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.42536473_42536476delinsGGGC	CA2260526765	NAGLU	c.201_204delinsGGGC (p.Leu67=)
17	g.42536484_42536486dup	CA658823943	NAGLU	c.212_214dup (p.Gly71_Ala72insGly)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42536481_42536486dup	CA2580613137	NAGLU	c.209_214dup (p.Gly71_Ala72insGlyGly)	ClinVar dbSNP gnomAD v4
17	g.42536484_42536486del	CA500216095	NAGLU	c.212_214del (p.Gly71del)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536481_42536486del	CA2637966076	NAGLU	c.209_214del (p.Gly70_Gly71del)	gnomAD v4
17	g.42536476_42536477del	CA2637966089	NAGLU	c.204_205del (p.Gly69ArgfsTer?)	gnomAD v4
17	g.42536481_42536491dup	CA983827663	NAGLU	c.209_219dup (p.Arg74AlafsTer?)	dbSNP gnomAD v3 gnomAD v4
17	g.42536476del	CA2637966093	NAGLU	c.204del (p.Gly69AlafsTer?)	gnomAD v4
17	g.42536476C>A	CA500216101	NAGLU	c.204C>A (p.Gly68=)	gnomAD v4
17	g.42536476C=	CA2260526769	NAGLU	c.204C= (p.Gly68=)
17	g.42536476C>G	CA500216098	NAGLU	c.204C>G (p.Gly68=)	gnomAD v4
17	g.42536476C>T	CA500216100	NAGLU	c.204C>T (p.Gly68=)	dbSNP gnomAD v3 gnomAD v4
17	g.42536477G>A	CA399595638	NAGLU	c.205G>A (p.Gly69Ser)	gnomAD v4
17	g.42536477G>C	CA399595639	NAGLU	c.205G>C (p.Gly69Arg)
17	g.42536477G>T	CA399595640	NAGLU	c.205G>T (p.Gly69Cys)	gnomAD v4
17	g.42536478G>A	CA290771341	NAGLU	c.206G>A (p.Gly69Asp)	dbSNP gnomAD v3 gnomAD v4
17	g.42536478G>C	CA399595644	NAGLU	c.206G>C (p.Gly69Ala)
17	g.42536478G=	CA2260526770	NAGLU	c.206G= (p.Gly69=)
17	g.42536478G>T	CA399595645	NAGLU	c.206G>T (p.Gly69Val)	gnomAD v4
17	g.42536479C>A	CA500216102	NAGLU	c.207C>A (p.Gly69=)	gnomAD v4
17	g.42536479C=	CA2260526771	NAGLU	c.207C= (p.Gly69=)
17	g.42536479C>G	CA500216103	NAGLU	c.207C>G (p.Gly69=)	gnomAD v4
17	g.42536479C>T	CA500216104	NAGLU	c.207C>T (p.Gly69=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536480G>A	CA399595647	NAGLU	c.208G>A (p.Gly70Ser)	gnomAD v4
17	g.42536480G>C	CA399595649	NAGLU	c.208G>C (p.Gly70Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536480G=	CA2260526773	NAGLU	c.208G= (p.Gly70=)
17	g.42536480G>T	CA399595650	NAGLU	c.208G>T (p.Gly70Cys)	dbSNP gnomAD v4
17	g.42536481dup	CA913012310	NAGLU	c.209dup (p.Gly71ArgfsTer?)
17	g.42536480_42536504delinsGGCGGCGCGGCGCGCGTGCGGGTGC	CA2260526772	NAGLU	c.208_232delinsGGCGGCGCGGCGCGCGTGCGGGTGC (p.Gly70=)
17	g.42536481G>A	CA399595653	NAGLU	c.209G>A (p.Gly70Asp)	gnomAD v4
17	g.42536481G>C	CA399595654	NAGLU	c.209G>C (p.Gly70Ala)
17	g.42536481G>T	CA399595656	NAGLU	c.209G>T (p.Gly70Val)	gnomAD v4
17	g.42536489_42536493dup	CA658823944	NAGLU	c.217_221dup (p.Val75ArgfsTer?)	ClinVar dbSNP gnomAD v4
17	g.42536489_42536493del	CA2637966120	NAGLU	c.217_221del (p.Ala73ArgfsTer?)	gnomAD v4
17	g.42536486_42536509dup	CA983827698	NAGLU	c.214_237dup (p.Gly79_Ser80insAlaAlaArgValArgValArgGly)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42536486_42536509del	CA891844534	NAGLU	c.214_237del (p.Ala72_Gly79del)	ClinVar dbSNP
17	g.42536482C>A	CA500216111	NAGLU	c.210C>A (p.Gly70=)	gnomAD v4
17	g.42536482C=	CA2260526774	NAGLU	c.210C= (p.Gly70=)
17	g.42536482C>G	CA500216110	NAGLU	c.210C>G (p.Gly70=)
17	g.42536482C>T	CA500216109	NAGLU	c.210C>T (p.Gly70=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.42536483G>A	CA399595662	NAGLU	c.211G>A (p.Gly71Ser)	gnomAD v4
17	g.42536483G>C	CA399595660	NAGLU	c.211G>C (p.Gly71Arg)
17	g.42536483G>T	CA399595659	NAGLU	c.211G>T (p.Gly71Cys)	gnomAD v4
17	g.42536484del	CA2637966127	NAGLU	c.212del (p.Gly71AlafsTer?)	gnomAD v4
17	g.42536483_42536502delinsGGCGCGGCGCGCGTGCGGGT	CA2260526775	NAGLU	c.211_230delinsGGCGCGGCGCGCGTGCGGGT (p.Gly71=)
17	g.42536484_42536503del	CA913012311	NAGLU	c.212_231del (p.Gly71AlafsTer?)
17	g.42536484G>A	CA399595665	NAGLU	c.212G>A (p.Gly71Asp)	gnomAD v4
17	g.42536484G>C	CA399595668	NAGLU	c.212G>C (p.Gly71Ala)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536484G=	CA2260526776	NAGLU	c.212G= (p.Gly71=)
17	g.42536484G>T	CA399595666	NAGLU	c.212G>T (p.Gly71Val)	gnomAD v4
17	g.42536491_42536509del	CA626218536	NAGLU	c.219_237del (p.Arg74ProfsTer?)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.42536485C>A	CA500216114	NAGLU	c.213C>A (p.Gly71=)	gnomAD v4
17	g.42536485C>G	CA500216115	NAGLU	c.213C>G (p.Gly71=)
17	g.42536485C>T	CA500216113	NAGLU	c.213C>T (p.Gly71=)	ClinVar gnomAD v3 gnomAD v4
17	g.42536486G>A	CA399595671	NAGLU	c.214G>A (p.Ala72Thr)	gnomAD v4
17	g.42536486G>C	CA399595672	NAGLU	c.214G>C (p.Ala72Pro)	ClinVar dbSNP gnomAD v4
17	g.42536486G>T	CA399595675	NAGLU	c.214G>T (p.Ala72Ser)	gnomAD v4
17	g.42536487del	CA2637966149	NAGLU	c.215del (p.Ala72GlyfsTer?)	gnomAD v4
17	g.42536487C>A	CA399595677	NAGLU	c.215C>A (p.Ala72Glu)	gnomAD v4
17	g.42536487C>G	CA399595679	NAGLU	c.215C>G (p.Ala72Gly)	gnomAD v4
17	g.42536487C>T	CA399595680	NAGLU	c.215C>T (p.Ala72Val)	gnomAD v4
17	g.42536487_42536488insCTCCAT	CA500216117	NAGLU	c.215_216insCTCCAT (p.Ala72_Ala73insSerMet)
17	g.42536488G>A	CA500216118	NAGLU	c.216G>A (p.Ala72=)	gnomAD v4
17	g.42536488G>C	CA500216120	NAGLU	c.216G>C (p.Ala72=)	dbSNP gnomAD v3 gnomAD v4
17	g.42536488G=	CA2260526777	NAGLU	c.216G= (p.Ala72=)
17	g.42536488G>T	CA500216119	NAGLU	c.216G>T (p.Ala72=)	gnomAD v4
17	g.42536489G>A	CA290771350	NAGLU	c.217G>A (p.Ala73Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536489G>C	CA399595684	NAGLU	c.217G>C (p.Ala73Pro)
17	g.42536489G=	CA2260526778	NAGLU	c.217G= (p.Ala73=)
17	g.42536489G>T	CA399595685	NAGLU	c.217G>T (p.Ala73Ser)	gnomAD v4
17	g.42536494_42536495del	CA2580613138	NAGLU	c.222_223del (p.Val75AlafsTer?)	ClinVar dbSNP
17	g.42536490C>A	CA399595687	NAGLU	c.218C>A (p.Ala73Glu)	gnomAD v4
17	g.42536490C>G	CA399595688	NAGLU	c.218C>G (p.Ala73Gly)	gnomAD v4
17	g.42536490C>T	CA399595690	NAGLU	c.218C>T (p.Ala73Val)	gnomAD v4
17	g.42536490_42536516delinsCGCGCGTGCGGGTGCGCGGCTCCACGG	CA2260526779	NAGLU	c.218_244delinsCGCGCGTGCGGGTGCGCGGCTCCACGG (p.Ala73=)
17	g.42536494_42536533del	CA2637966167	NAGLU	c.222_261del (p.Val75GlyfsTer?)	gnomAD v4
17	g.42536491G>A	CA500216127	NAGLU	c.219G>A (p.Ala73=)	ClinVar dbSNP gnomAD v4
17	g.42536491G>C	CA500216125	NAGLU	c.219G>C (p.Ala73=)	dbSNP gnomAD v4
17	g.42536491G=	CA2260526780	NAGLU	c.219G= (p.Ala73=)
17	g.42536491G>T	CA500216126	NAGLU	c.219G>T (p.Ala73=)	gnomAD v4
17	g.42536491dup	CA913012312	NAGLU	c.219dup (p.Arg74AlafsTer?)
17	g.42536494_42536519del	CA772109499	NAGLU	c.222_247del (p.Val75GlyfsTer?)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42536492C>A	CA399595696	NAGLU	c.220C>A (p.Arg74Ser)	gnomAD v4
17	g.42536492C>G	CA399595692	NAGLU	c.220C>G (p.Arg74Gly)
17	g.42536492C>T	CA399595694	NAGLU	c.220C>T (p.Arg74Cys)	gnomAD v4
17	g.42536492dup	CA658823945	NAGLU	c.220dup (p.Arg74ProfsTer?)	ClinVar dbSNP
17	g.42536493G>A	CA399595698	NAGLU	c.221G>A (p.Arg74His)	gnomAD v4
17	g.42536493G>C	CA399595700	NAGLU	c.221G>C (p.Arg74Pro)	gnomAD v4
17	g.42536493G>T	CA399595702	NAGLU	c.221G>T (p.Arg74Leu)	gnomAD v4
17	g.42536494C>A	CA500216130	NAGLU	c.222C>A (p.Arg74=)	gnomAD v4
17	g.42536494C>G	CA500216132	NAGLU	c.222C>G (p.Arg74=)	ClinVar dbSNP gnomAD v4
17	g.42536494C>T	CA500216129	NAGLU	c.222C>T (p.Arg74=)	gnomAD v4
17	g.42536495G>A	CA399595706	NAGLU	c.223G>A (p.Val75Met)	ClinVar dbSNP gnomAD v4
17	g.42536495G>C	CA399595707	NAGLU	c.223G>C (p.Val75Leu)	ClinVar dbSNP gnomAD v4
17	g.42536495G=	CA2260526781	NAGLU	c.223G= (p.Val75=)
17	g.42536495G>T	CA399595710	NAGLU	c.223G>T (p.Val75Leu)	dbSNP gnomAD v4
17	g.42536496T>A	CA399595712	NAGLU	c.224T>A (p.Val75Glu)
17	g.42536496T>C	CA399595714	NAGLU	c.224T>C (p.Val75Ala)	gnomAD v4
17	g.42536496T>G	CA399595716	NAGLU	c.224T>G (p.Val75Gly)
17	g.42536497G>A	CA500216137	NAGLU	c.225G>A (p.Val75=)	dbSNP gnomAD v4
17	g.42536497G>C	CA500216135	NAGLU	c.225G>C (p.Val75=)
17	g.42536497G=	CA2260526782	NAGLU	c.225G= (p.Val75=)
17	g.42536497G>T	CA500216136	NAGLU	c.225G>T (p.Val75=)	ClinVar gnomAD v4
17	g.42536501_42536508del	CA2580093762	NAGLU	c.229_236del (p.Val77LeufsTer?)	ClinVar dbSNP
17	g.42536498C>A	CA500216139	NAGLU	c.226C>A (p.Arg76=)	gnomAD v4
17	g.42536498C=	CA2260526783	NAGLU	c.226C= (p.Arg76=)
17	g.42536498C>G	CA399595718	NAGLU	c.226C>G (p.Arg76Gly)	dbSNP gnomAD v2 gnomAD v4
17	g.42536498C>T	CA399595719	NAGLU	c.226C>T (p.Arg76Trp)	gnomAD v4
17	g.42536499G>A	CA399595724	NAGLU	c.227G>A (p.Arg76Gln)	gnomAD v4
17	g.42536499G>C	CA399595723	NAGLU	c.227G>C (p.Arg76Pro)	gnomAD v4
17	g.42536499G=	CA2260526784	NAGLU	c.227G= (p.Arg76=)
17	g.42536499G>T	CA399595722	NAGLU	c.227G>T (p.Arg76Leu)	dbSNP gnomAD v4
17	g.42536500G>A	CA500216144	NAGLU	c.228G>A (p.Arg76=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42536500G>C	CA500216146	NAGLU	c.228G>C (p.Arg76=)
17	g.42536500G=	CA2260526785	NAGLU	c.228G= (p.Arg76=)
17	g.42536500G>T	CA500216145	NAGLU	c.228G>T (p.Arg76=)	gnomAD v4
17	g.42536501G>A	CA399595726	NAGLU	c.229G>A (p.Val77Met)	gnomAD v4
17	g.42536501G>C	CA399595727	NAGLU	c.229G>C (p.Val77Leu)	gnomAD v4
17	g.42536501G>T	CA399595729	NAGLU	c.229G>T (p.Val77Leu)	gnomAD v4
17	g.42536502T>A	CA399595731	NAGLU	c.230T>A (p.Val77Glu)
17	g.42536502T>C	CA399595733	NAGLU	c.230T>C (p.Val77Ala)	gnomAD v4
17	g.42536502T>G	CA399595735	NAGLU	c.230T>G (p.Val77Gly)	ClinVar dbSNP
17	g.42536502T=	CA2260526786	NAGLU	c.230T= (p.Val77=)
17	g.42536503G>A	CA500216149	NAGLU	c.231G>A (p.Val77=)	gnomAD v4
17	g.42536503G>C	CA290771353	NAGLU	c.231G>C (p.Val77=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536503G=	CA2260526787	NAGLU	c.231G= (p.Val77=)
17	g.42536503G>T	CA500216148	NAGLU	c.231G>T (p.Val77=)	gnomAD v4
17	g.42536506_42536507del	CA2637966237	NAGLU	c.234_235del (p.Gly79LeufsTer?)	gnomAD v4
17	g.42536504C>A	CA399595736	NAGLU	c.232C>A (p.Arg78Ser)	gnomAD v4
17	g.42536504C>G	CA399595738	NAGLU	c.232C>G (p.Arg78Gly)	gnomAD v4
17	g.42536504C>T	CA399595740	NAGLU	c.232C>T (p.Arg78Cys)	gnomAD v4
17	g.42536505G>A	CA399595743	NAGLU	c.233G>A (p.Arg78His)	gnomAD v4
17	g.42536505G>C	CA399595744	NAGLU	c.233G>C (p.Arg78Pro)	gnomAD v4
17	g.42536505G>T	CA399595746	NAGLU	c.233G>T (p.Arg78Leu)	gnomAD v4
17	g.42536506C>A	CA500216155	NAGLU	c.234C>A (p.Arg78=)	gnomAD v4
17	g.42536506C>G	CA500216154	NAGLU	c.234C>G (p.Arg78=)
17	g.42536506C>T	CA500216153	NAGLU	c.234C>T (p.Arg78=)	ClinVar gnomAD v4
17	g.42536509_42536516dup	CA2740095357	NAGLU	c.237_244dup (p.Gly82AlafsTer?)	ClinVar
17	g.42536507G>A	CA399595752	NAGLU	c.235G>A (p.Gly79Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536507G>C	CA399595750	NAGLU	c.235G>C (p.Gly79Arg)	dbSNP
17	g.42536507G=	CA2260526788	NAGLU	c.235G= (p.Gly79=)
17	g.42536507G>T	CA399595748	NAGLU	c.235G>T (p.Gly79Cys)	ClinVar gnomAD v4
17	g.42536508G>A	CA399595754	NAGLU	c.236G>A (p.Gly79Asp)	ClinVar gnomAD v4
17	g.42536508G>C	CA399595755	NAGLU	c.236G>C (p.Gly79Ala)	gnomAD v4
17	g.42536508G>T	CA399595757	NAGLU	c.236G>T (p.Gly79Val)	gnomAD v4
17	g.42536509C>A	CA500216158	NAGLU	c.237C>A (p.Gly79=)	gnomAD v4
17	g.42536509C=	CA2260526789	NAGLU	c.237C= (p.Gly79=)
17	g.42536509C>G	CA500216159	NAGLU	c.237C>G (p.Gly79=)	dbSNP gnomAD v3 gnomAD v4
17	g.42536509C>T	CA500216160	NAGLU	c.237C>T (p.Gly79=)	gnomAD v4
17	g.42536510T>A	CA399595759	NAGLU	c.238T>A (p.Ser80Thr)
17	g.42536510T>C	CA399595761	NAGLU	c.238T>C (p.Ser80Pro)	gnomAD v4
17	g.42536510T>G	CA399595763	NAGLU	c.238T>G (p.Ser80Ala)
17	g.42536511C>A	CA399595764	NAGLU	c.239C>A (p.Ser80Tyr)	gnomAD v4
17	g.42536511C=	CA2260526790	NAGLU	c.239C= (p.Ser80=)
17	g.42536511C>G	CA399595766	NAGLU	c.239C>G (p.Ser80Cys)
17	g.42536511C>T	CA399595768	NAGLU	c.239C>T (p.Ser80Phe)	ClinVar dbSNP gnomAD v4
17	g.42536512C>A	CA500216161	NAGLU	c.240C>A (p.Ser80=)	gnomAD v4
17	g.42536512C>G	CA500216164	NAGLU	c.240C>G (p.Ser80=)
17	g.42536512C>T	CA500216162	NAGLU	c.240C>T (p.Ser80=)	gnomAD v4
17	g.42536513A=	CA2260526791	NAGLU	c.241A= (p.Thr81=)
17	g.42536513A>C	CA399595769	NAGLU	c.241A>C (p.Thr81Pro)
17	g.42536513A>G	CA399595771	NAGLU	c.241A>G (p.Thr81Ala)	ClinVar dbSNP gnomAD v4
17	g.42536513A>T	CA399595773	NAGLU	c.241A>T (p.Thr81Ser)
17	g.42536513_42536531delinsACGGGCGTGGCGGCCGCCG	CA2260526792	NAGLU	c.241_259delinsACGGGCGTGGCGGCCGCCG (p.Thr81=)
17	g.42536514C>A	CA399595777	NAGLU	c.242C>A (p.Thr81Lys)	gnomAD v4
17	g.42536514C=	CA2260526794	NAGLU	c.242C= (p.Thr81=)
17	g.42536514C>G	CA399595776	NAGLU	c.242C>G (p.Thr81Arg)	gnomAD v4
17	g.42536514C>T	CA399595774	NAGLU	c.242C>T (p.Thr81Met)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42536518_42536535del	CA2260526793	NAGLU	c.246_263del (p.Val83_Gly88del)	dbSNP
17	g.42536515G>A	CA500216172	NAGLU	c.243G>A (p.Thr81=)	gnomAD v4
17	g.42536515G>C	CA500216168	NAGLU	c.243G>C (p.Thr81=)	gnomAD v4
17	g.42536515G>T	CA500216171	NAGLU	c.243G>T (p.Thr81=)	ClinVar gnomAD v4
17	g.42536516G>A	CA399595779	NAGLU	c.244G>A (p.Gly82Ser)	gnomAD v4
17	g.42536516G>C	CA399595782	NAGLU	c.244G>C (p.Gly82Arg)
17	g.42536516G>T	CA399595781	NAGLU	c.244G>T (p.Gly82Cys)	gnomAD v4
17	g.42536517G>A	CA399595785	NAGLU	c.245G>A (p.Gly82Asp)	ClinVar dbSNP gnomAD v4
17	g.42536517G>C	CA399595787	NAGLU	c.245G>C (p.Gly82Ala)	gnomAD v4
17	g.42536517G=	CA2260526795	NAGLU	c.245G= (p.Gly82=)
17	g.42536517G>T	CA399595789	NAGLU	c.245G>T (p.Gly82Val)	gnomAD v4
17	g.42536518C>A	CA500216174	NAGLU	c.246C>A (p.Gly82=)	gnomAD v4
17	g.42536518C>G	CA500216175	NAGLU	c.246C>G (p.Gly82=)	gnomAD v4
17	g.42536518C>T	CA500216173	NAGLU	c.246C>T (p.Gly82=)	gnomAD v4
17	g.42536519G>A	CA399595790	NAGLU	c.247G>A (p.Val83Met)	dbSNP gnomAD v2 gnomAD v4
17	g.42536519G>C	CA399595791	NAGLU	c.247G>C (p.Val83Leu)	gnomAD v4
17	g.42536519G=	CA2260526796	NAGLU	c.247G= (p.Val83=)
17	g.42536519G>T	CA399595792	NAGLU	c.247G>T (p.Val83Leu)	gnomAD v4
17	g.42536520T>A	CA399595795	NAGLU	c.248T>A (p.Val83Glu)
17	g.42536520T>C	CA399595794	NAGLU	c.248T>C (p.Val83Ala)	gnomAD v4
17	g.42536520T>G	CA399595793	NAGLU	c.248T>G (p.Val83Gly)	ClinVar
17	g.42536521G>A	CA500216178	NAGLU	c.249G>A (p.Val83=)	ClinVar dbSNP gnomAD v4
17	g.42536521G>C	CA500216177	NAGLU	c.249G>C (p.Val83=)
17	g.42536521G=	CA2260526797	NAGLU	c.249G= (p.Val83=)
17	g.42536521G>T	CA500216179	NAGLU	c.249G>T (p.Val83=)	gnomAD v4
17	g.42536524_42536537del	CA2573154145	NAGLU	c.252_265del (p.Ala86ProfsTer?)	ClinVar dbSNP
17	g.42536522G>A	CA399595796	NAGLU	c.250G>A (p.Ala84Thr)	gnomAD v4
17	g.42536522G>C	CA399595797	NAGLU	c.250G>C (p.Ala84Pro)
17	g.42536522G>T	CA399595798	NAGLU	c.250G>T (p.Ala84Ser)	gnomAD v4
17	g.42536523C>A	CA399595799	NAGLU	c.251C>A (p.Ala84Glu) c.1C>A	gnomAD v4
17	g.42536523C>G	CA399595800	NAGLU	c.251C>G (p.Ala84Gly) c.1C>G	gnomAD v4
17	g.42536523C>T	CA399595801	NAGLU	c.251C>T (p.Ala84Val) c.1C>T	gnomAD v4
17	g.42536524G>A	CA500216182	NAGLU	c.252G>A (p.Ala84=) c.2G>A	ClinVar gnomAD v4
17	g.42536524G>C	CA500216184	NAGLU	c.252G>C (p.Ala84=) c.2G>C	gnomAD v4
17	g.42536524G>T	CA500216183	NAGLU	c.252G>T (p.Ala84=) c.2G>T	gnomAD v4
17	g.42536525G>A	CA399595802	NAGLU	c.253G>A (p.Ala85Thr) c.3G>A	gnomAD v4
17	g.42536525G>C	CA399595804	NAGLU	c.253G>C (p.Ala85Pro) c.3G>C
17	g.42536525G>T	CA399595803	NAGLU	c.253G>T (p.Ala85Ser) c.3G>T	gnomAD v4
17	g.42536526C>A	CA399595806	NAGLU	c.254C>A (p.Ala85Asp) c.4C>A	gnomAD v4
17	g.42536526C=	CA2260526798	NAGLU	c.254C= (p.Ala85=) c.4C=
17	g.42536526C>G	CA399595808	NAGLU	c.254C>G (p.Ala85Gly) c.4C>G	dbSNP
17	g.42536526C>T	CA399595809	NAGLU	c.254C>T (p.Ala85Val) c.4C>T	gnomAD v4
17	g.42536527dup	CA913012313	NAGLU	c.255dup (p.Ala86ArgfsTer?) c.5dup
17	g.42536527C>A	CA500216188	NAGLU	c.255C>A (p.Ala85=) c.5C>A	gnomAD v4
17	g.42536527C=	CA2260526799	NAGLU	c.255C= (p.Ala85=) c.5C=
17	g.42536527C>G	CA500216191	NAGLU	c.255C>G (p.Ala85=) c.5C>G	gnomAD v4
17	g.42536527C>T	CA500216186	NAGLU	c.255C>T (p.Ala85=) c.5C>T	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42536528G>A	CA399595811	NAGLU	c.256G>A (p.Ala86Thr) c.6G>A	gnomAD v4
17	g.42536528G>C	CA399595813	NAGLU	c.256G>C (p.Ala86Pro) c.6G>C	gnomAD v4
17	g.42536528G=	CA2260526800	NAGLU	c.256G= (p.Ala86=) c.6G=
17	g.42536528G>T	CA399595815	NAGLU	c.256G>T (p.Ala86Ser) c.6G>T	dbSNP gnomAD v4
17	g.42536529_42536534dup	CA658823946	NAGLU	c.257_262dup (p.Ala87_Gly88insAlaAla) c.7_12dup	ClinVar dbSNP
17	g.42536529C>A	CA399595820	NAGLU	c.257C>A (p.Ala86Asp) c.7C>A	gnomAD v4
17	g.42536529C>G	CA399595821	NAGLU	c.257C>G (p.Ala86Gly) c.7C>G
17	g.42536529C>T	CA399595823	NAGLU	c.257C>T (p.Ala86Val) c.7C>T	gnomAD v4
17	g.42536530C>A	CA399595825	NAGLU	c.258C>A (p.Ala86=) c.8C>A c.1C>A (p.Arg1Ser)	gnomAD v4
17	g.42536530C=	CA2260526801	NAGLU	c.258C= (p.Ala86=) c.8C= c.1C= (p.Arg1=)
17	g.42536530C>G	CA399595826	NAGLU	c.258C>G (p.Ala86=) c.8C>G c.1C>G (p.Arg1Gly)	ClinVar dbSNP
17	g.42536530C>T	CA399595827	NAGLU	c.258C>T (p.Ala86=) c.8C>T c.1C>T (p.Arg1Cys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536531G>A	CA399595828	NAGLU	c.259G>A (p.Ala87Thr) c.9G>A c.2G>A (p.Arg1His)	gnomAD v4
17	g.42536531G>C	CA399595830	NAGLU	c.259G>C (p.Ala87Pro) c.9G>C c.2G>C (p.Arg1Pro)	gnomAD v4
17	g.42536531G=	CA2260526802	NAGLU	c.259G= (p.Ala87=) c.9G= c.2G= (p.Arg1=)
17	g.42536531G>T	CA399595829	NAGLU	c.259G>T (p.Ala87Ser) c.9G>T c.2G>T (p.Arg1Leu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536532del	CA2637966324	NAGLU	c.260del (p.Ala87GlyfsTer?) c.10del c.3del (p.Ala3LeufsTer?)	gnomAD v4
17	g.42536532C>A	CA399595831	NAGLU	c.260C>A (p.Ala87Glu) c.10C>A c.3C>A (p.Arg1=)	gnomAD v4
17	g.42536532C=	CA2260526803	NAGLU	c.260C= (p.Ala87=) c.10C= c.3C= (p.Arg1=)
17	g.42536532C>G	CA399595832	NAGLU	c.260C>G (p.Ala87Gly) c.10C>G c.3C>G (p.Arg1=)
17	g.42536532C>T	CA399595833	NAGLU	c.260C>T (p.Ala87Val) c.10C>T c.3C>T (p.Arg1=)	dbSNP gnomAD v3 gnomAD v4
17	g.42536533G>A	CA399595834	NAGLU	c.261G>A (p.Ala87=) c.11G>A c.4G>A (p.Gly2Arg)	gnomAD v4
17	g.42536533G>C	CA399595835	NAGLU	c.261G>C (p.Ala87=) c.11G>C c.4G>C (p.Gly2Arg)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42536533G=	CA2260526804	NAGLU	c.261G= (p.Ala87=) c.11G= c.4G= (p.Gly2=)
17	g.42536533G>T	CA399595837	NAGLU	c.261G>T (p.Ala87=) c.11G>T c.4G>T (p.Gly2Trp)	ClinVar gnomAD v4
17	g.42536536del	CA2637966325	NAGLU	c.264del (p.Leu89CysfsTer?) c.14del c.7del (p.Ala3LeufsTer?)	gnomAD v4
17	g.42536534G>A	CA399595839	NAGLU	c.262G>A (p.Gly88Arg) c.12G>A c.5G>A (p.Gly2Glu)	gnomAD v4
17	g.42536534G>C	CA399595842	NAGLU	c.262G>C (p.Gly88Arg) c.12G>C c.5G>C (p.Gly2Ala)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536534G=	CA2260526805	NAGLU	c.262G= (p.Gly88=) c.12G= c.5G= (p.Gly2=)
17	g.42536534G>T	CA399595844	NAGLU	c.262G>T (p.Gly88Trp) c.12G>T c.5G>T (p.Gly2Val)	gnomAD v4
17	g.42536535G>A	CA399595845	NAGLU	c.263G>A (p.Gly88Glu) c.13G>A c.6G>A (p.Gly2=)
17	g.42536535G>C	CA399595847	NAGLU	c.263G>C (p.Gly88Ala) c.13G>C c.6G>C (p.Gly2=)	dbSNP gnomAD v2 gnomAD v4
17	g.42536535G=	CA2260526806	NAGLU	c.263G= (p.Gly88=) c.13G= c.6G= (p.Gly2=)
17	g.42536535G>T	CA399595849	NAGLU	c.263G>T (p.Gly88Val) c.13G>T c.6G>T (p.Gly2=)	gnomAD v4
17	g.42536536G>A	CA290771356	NAGLU	c.264G>A (p.Gly88=) c.14G>A c.7G>A (p.Ala3Thr)	dbSNP gnomAD v4
17	g.42536536G>C	CA399595855	NAGLU	c.264G>C (p.Gly88=) c.14G>C c.7G>C (p.Ala3Pro)
17	g.42536536G=	CA2260526807	NAGLU	c.264G= (p.Gly88=) c.14G= c.7G= (p.Ala3=)
17	g.42536536G>T	CA399595852	NAGLU	c.264G>T (p.Gly88=) c.14G>T c.7G>T (p.Ala3Ser)
17	g.42536537C>A	CA399595857	NAGLU	c.265C>A (p.Leu89Met) c.15C>A c.8C>A (p.Ala3Asp)	gnomAD v4
17	g.42536537C>G	CA399595858	NAGLU	c.265C>G (p.Leu89Val) c.15C>G c.8C>G (p.Ala3Gly)
17	g.42536537C>T	CA399595859	NAGLU	c.265C>T (p.Leu89=) c.15C>T c.8C>T (p.Ala3Val)	ClinVar dbSNP
17	g.42536538T>A	CA399595861	NAGLU	c.266T>A (p.Leu89Gln) c.16T>A c.9T>A (p.Ala3=)
17	g.42536538T>C	CA399595863	NAGLU	c.266T>C (p.Leu89Pro) c.16T>C c.9T>C (p.Ala3=)	gnomAD v4
17	g.42536538T>G	CA399595869	NAGLU	c.266T>G (p.Leu89Arg) c.16T>G c.9T>G (p.Ala3=)
17	g.42536539G>A	CA399595871	NAGLU	c.267G>A (p.Leu89=) c.17G>A c.10G>A (p.Ala4Thr)	ClinVar dbSNP gnomAD v4
17	g.42536539G>C	CA399595874	NAGLU	c.267G>C (p.Leu89=) c.17G>C c.10G>C (p.Ala4Pro)
17	g.42536539G>T	CA399595875	NAGLU	c.267G>T (p.Leu89=) c.17G>T c.10G>T (p.Ala4Ser)	gnomAD v4
17	g.42536540C>A	CA399595876	NAGLU	c.268C>A (p.His90Asn) c.18C>A c.11C>A (p.Ala4Glu) c.-475C>A (n.-475C>A)	ClinVar dbSNP gnomAD v4
17	g.42536540C=	CA2260526808	NAGLU	c.268C= (p.His90=) c.18C= c.11C= (p.Ala4=) c.-475C= (n.-475C=)
17	g.42536540C>G	CA399595877	NAGLU	c.268C>G (p.His90Asp) c.18C>G c.11C>G (p.Ala4Gly) c.-475C>G (n.-475C>G)
17	g.42536540C>T	CA290771358	NAGLU	c.268C>T (p.His90Tyr) c.18C>T c.11C>T (p.Ala4Val) c.-475C>T (n.-475C>T)	ClinVar dbSNP gnomAD v4
17	g.42536541A>C	CA399595878	NAGLU	c.269A>C (p.His90Pro) c.19A>C c.12A>C (p.Ala4=) c.-474A>C (n.-474A>C)
17	g.42536541A>G	CA399595880	NAGLU	c.269A>G (p.His90Arg) c.19A>G c.12A>G (p.Ala4=) c.-474A>G (n.-474A>G)	gnomAD v4
17	g.42536541A>T	CA399595879	NAGLU	c.269A>T (p.His90Leu) c.19A>T c.12A>T (p.Ala4=) c.-474A>T (n.-474A>T)	gnomAD v4
17	g.42536542C>A	CA399595881	NAGLU	c.270C>A (p.His90Gln) c.20C>A c.13C>A (p.Pro5Thr) c.-473C>A (n.-473C>A)	gnomAD v4
17	g.42536542C=	CA2260526809	NAGLU	c.270C= (p.His90=) c.20C= c.13C= (p.Pro5=) c.-473C= (n.-473C=)
17	g.42536542C>G	CA399595883	NAGLU	c.270C>G (p.His90Gln) c.20C>G c.13C>G (p.Pro5Ala) c.-473C>G (n.-473C>G)	dbSNP gnomAD v4
17	g.42536542C>T	CA399595884	NAGLU	c.270C>T (p.His90=) c.20C>T c.13C>T (p.Pro5Ser) c.-473C>T (n.-473C>T)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536543C>A	CA399595886	NAGLU	c.271C>A (p.Arg91Ser) c.21C>A c.14C>A (p.Pro5Gln) c.-472C>A (n.-472C>A)	gnomAD v4
17	g.42536543C>G	CA399595887	NAGLU	c.271C>G (p.Arg91Gly) c.21C>G c.14C>G (p.Pro5Arg) c.-472C>G (n.-472C>G)	gnomAD v4
17	g.42536543C>T	CA399595889	NAGLU	c.271C>T (p.Arg91Cys) c.21C>T c.14C>T (p.Pro5Leu) c.-472C>T (n.-472C>T)	gnomAD v4
17	g.42536544G>A	CA399595895	NAGLU	c.272G>A (p.Arg91His) c.22G>A c.15G>A (p.Pro5=) c.-471G>A (n.-471G>A)	gnomAD v4
17	g.42536544G>C	CA399595892	NAGLU	c.272G>C (p.Arg91Pro) c.22G>C c.15G>C (p.Pro5=) c.-471G>C (n.-471G>C)
17	g.42536544G>T	CA399595893	NAGLU	c.272G>T (p.Arg91Leu) c.22G>T c.15G>T (p.Pro5=) c.-471G>T (n.-471G>T)	gnomAD v4
17	g.42536545C>A	CA399595899	NAGLU	c.273C>A (p.Arg91=) c.23C>A c.16C>A (p.Leu6Ile) c.-470C>A (n.-470C>A)	gnomAD v4
17	g.42536545C>G	CA399595901	NAGLU	c.273C>G (p.Arg91=) c.23C>G c.16C>G (p.Leu6Val) c.-470C>G (n.-470C>G)
17	g.42536545C>T	CA500215710	NAGLU	c.273C>T (p.Arg91=) c.23C>T c.16C>T (p.Leu6=) c.-470C>T (n.-470C>T)	ClinVar dbSNP gnomAD v4
17	g.42536546T>A	CA399595902	NAGLU	c.274T>A (p.Tyr92Asn) c.24T>A c.17T>A (p.Leu6Gln) c.-469T>A (n.-469T>A)
17	g.42536546T>C	CA399595903	NAGLU	c.274T>C (p.Tyr92His) c.24T>C c.17T>C (p.Leu6Pro) c.-469T>C (n.-469T>C)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42536546T>G	CA399595904	NAGLU	c.274T>G (p.Tyr92Asp) c.24T>G c.17T>G (p.Leu6Arg) c.-469T>G (n.-469T>G)
17	g.42536546T=	CA2260526810	NAGLU	c.274T= (p.Tyr92=) c.24T= c.17T= (p.Leu6=) c.-469T= (n.-469T=)
17	g.42536547A=	CA2260526811	NAGLU	c.275A= (p.Tyr92=) c.25A= c.18A= (p.Leu6=) c.-468A= (n.-468A=)
17	g.42536547A>C	CA399595907	NAGLU	c.275A>C (p.Tyr92Ser) c.25A>C c.18A>C (p.Leu6=) c.-468A>C (n.-468A>C)
17	g.42536547A>G	CA290771361	NAGLU	c.275A>G (p.Tyr92Cys) c.25A>G c.18A>G (p.Leu6=) c.-468A>G (n.-468A>G)	dbSNP gnomAD v3 gnomAD v4
17	g.42536547A>T	CA399595905	NAGLU	c.275A>T (p.Tyr92Phe) c.25A>T c.18A>T (p.Leu6=) c.-468A>T (n.-468A>T)
17	g.42536548C>A	CA399595909	NAGLU	c.276C>A (p.Tyr92Ter) c.26C>A c.19C>A (p.Pro7Thr) c.-467C>A (n.-467C>A)	gnomAD v4
17	g.42536548C=	CA2260526812	NAGLU	c.276C= (p.Tyr92=) c.26C= c.19C= (p.Pro7=) c.-467C= (n.-467C=)
17	g.42536548C>G	CA399595911	NAGLU	c.276C>G (p.Tyr92Ter) c.26C>G c.19C>G (p.Pro7Ala) c.-467C>G (n.-467C>G)
17	g.42536548C>T	CA8576699	NAGLU	c.276C>T (p.Tyr92=) c.26C>T c.19C>T (p.Pro7Ser) c.-467C>T (n.-467C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536549C>A	CA399595913	NAGLU	c.277C>A (p.Leu93Met) c.27C>A c.20C>A (p.Pro7His) c.-466C>A (n.-466C>A)	ClinVar dbSNP gnomAD v4
17	g.42536549C=	CA2260526813	NAGLU	c.277C= (p.Leu93=) c.27C= c.20C= (p.Pro7=) c.-466C= (n.-466C=)
17	g.42536549C>G	CA399595915	NAGLU	c.277C>G (p.Leu93Val) c.27C>G c.20C>G (p.Pro7Arg) c.-466C>G (n.-466C>G)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536549C>T	CA399595917	NAGLU	c.277C>T (p.Leu93=) c.27C>T c.20C>T (p.Pro7Leu) c.-466C>T (n.-466C>T)	dbSNP gnomAD v4
17	g.42536550del	CA2637966327	NAGLU	c.278del (p.Leu93ArgfsTer29) c.28del c.21del (p.Ala8ArgfsTer?) c.-465del (n.-465del)	gnomAD v4
17	g.42536550T>A	CA399595919	NAGLU	c.278T>A (p.Leu93Gln) c.28T>A c.21T>A (p.Pro7=) c.-465T>A (n.-465T>A)	gnomAD v4
17	g.42536550T>C	CA399595922	NAGLU	c.278T>C (p.Leu93Pro) c.28T>C c.21T>C (p.Pro7=) c.-465T>C (n.-465T>C)	ClinVar gnomAD v4
17	g.42536550T>G	CA399595923	NAGLU	c.278T>G (p.Leu93Arg) c.28T>G c.21T>G (p.Pro7=) c.-465T>G (n.-465T>G)
17	g.42536551G>A	CA399595925	NAGLU	c.279G>A (p.Leu93=) c.29G>A c.22G>A (p.Ala8Thr) c.-464G>A (n.-464G>A)	gnomAD v4
17	g.42536551G>C	CA399595927	NAGLU	c.279G>C (p.Leu93=) c.29G>C c.22G>C (p.Ala8Pro) c.-464G>C (n.-464G>C)	gnomAD v4
17	g.42536551G>T	CA399595928	NAGLU	c.279G>T (p.Leu93=) c.29G>T c.22G>T (p.Ala8Ser) c.-464G>T (n.-464G>T)	gnomAD v4
17	g.42536552C>A	CA399595929	NAGLU	c.280C>A (p.Arg94Ser) c.30C>A c.23C>A (p.Ala8Glu) c.-463C>A (n.-463C>A)	gnomAD v4
17	g.42536552C>G	CA399595932	NAGLU	c.280C>G (p.Arg94Gly) c.30C>G c.23C>G (p.Ala8Gly) c.-463C>G (n.-463C>G)
17	g.42536552C>T	CA399595931	NAGLU	c.280C>T (p.Arg94Cys) c.30C>T c.23C>T (p.Ala8Val) c.-463C>T (n.-463C>T)	gnomAD v4
17	g.42536553G>A	CA399595934	NAGLU	c.281G>A (p.Arg94His) c.31G>A c.24G>A (p.Ala8=) c.-462G>A (n.-462G>A)	gnomAD v4
17	g.42536553G>C	CA399595936	NAGLU	c.281G>C (p.Arg94Pro) c.31G>C c.24G>C (p.Ala8=) c.-462G>C (n.-462G>C)	gnomAD v4
17	g.42536553G>T	CA399595939	NAGLU	c.281G>T (p.Arg94Leu) c.31G>T c.24G>T (p.Ala8=) c.-462G>T (n.-462G>T)	gnomAD v4
17	g.42536553_42536555delinsCCC	CA2695226051	NAGLU	c.281_283delinsCCC (p.Arg94_Asp95delinsProHis) c.31_33delinsCCC c.24_26delinsCCC (p.Arg9Pro) c.-462_-460delinsCCC (n.-462_-460delinsCCC)
17	g.42536554C>A	CA500215737	NAGLU	c.282C>A (p.Arg94=) c.32C>A c.25C>A (p.Arg9=) c.-461C>A (n.-461C>A)	gnomAD v4
17	g.42536554C=	CA2260526814	NAGLU	c.282C= (p.Arg94=) c.32C= c.25C= (p.Arg9=) c.-461C= (n.-461C=)
17	g.42536554C>G	CA399595941	NAGLU	c.282C>G (p.Arg94=) c.32C>G c.25C>G (p.Arg9Gly) c.-461C>G (n.-461C>G)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.42536554C>T	CA290771374	NAGLU	c.282C>T (p.Arg94=) c.32C>T c.25C>T (p.Arg9Ter) c.-461C>T (n.-461C>T)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536555G>A	CA399595942	NAGLU	c.283G>A (p.Asp95Asn) c.33G>A c.26G>A (p.Arg9Gln) c.-460G>A (n.-460G>A)	dbSNP gnomAD v4
17	g.42536555G>C	CA399595945	NAGLU	c.283G>C (p.Asp95His) c.33G>C c.26G>C (p.Arg9Pro) c.-460G>C (n.-460G>C)	dbSNP gnomAD v3 gnomAD v4
17	g.42536555G=	CA2260526815	NAGLU	c.283G= (p.Asp95=) c.33G= c.26G= (p.Arg9=) c.-460G= (n.-460G=)
17	g.42536555G>T	CA399595947	NAGLU	c.283G>T (p.Asp95Tyr) c.33G>T c.26G>T (p.Arg9Leu) c.-460G>T (n.-460G>T)	gnomAD v4
17	g.42536556A>C	CA399595950	NAGLU	c.284A>C (p.Asp95Ala) c.34A>C c.27A>C (p.Arg9=) c.-459A>C (n.-459A>C)
17	g.42536556A>G	CA399595952	NAGLU	c.284A>G (p.Asp95Gly) c.34A>G c.27A>G (p.Arg9=) c.-459A>G (n.-459A>G)	gnomAD v4
17	g.42536556A>T	CA399595953	NAGLU	c.284A>T (p.Asp95Val) c.34A>T c.27A>T (p.Arg9=) c.-459A>T (n.-459A>T)
17	g.42536557C>A	CA290771383	NAGLU	c.285C>A (p.Asp95Glu) c.35C>A c.28C>A (p.Leu10Ile) c.-458C>A (n.-458C>A)	dbSNP gnomAD v4
17	g.42536557C=	CA2260526816	NAGLU	c.285C= (p.Asp95=) c.35C= c.28C= (p.Leu10=) c.-458C= (n.-458C=)
17	g.42536557C>G	CA399595958	NAGLU	c.285C>G (p.Asp95Glu) c.35C>G c.28C>G (p.Leu10Val) c.-458C>G (n.-458C>G)	gnomAD v4
17	g.42536557C>T	CA399595956	NAGLU	c.285C>T (p.Asp95=) c.35C>T c.28C>T (p.Leu10Phe) c.-458C>T (n.-458C>T)	gnomAD v4
17	g.42536558T>A	CA399595961	NAGLU	c.286T>A (p.Phe96Ile) c.36T>A c.29T>A (p.Leu10His) c.-457T>A (n.-457T>A)	gnomAD v4
17	g.42536558T>C	CA399595963	NAGLU	c.286T>C (p.Phe96Leu) c.36T>C c.29T>C (p.Leu10Pro) c.-457T>C (n.-457T>C)	gnomAD v4
17	g.42536558T>G	CA399595965	NAGLU	c.286T>G (p.Phe96Val) c.36T>G c.29T>G (p.Leu10Arg) c.-457T>G (n.-457T>G)
17	g.42536559T>A	CA399595967	NAGLU	c.287T>A (p.Phe96Tyr) c.37T>A c.30T>A (p.Leu10=) c.-456T>A (n.-456T>A)
17	g.42536559T>C	CA399595969	NAGLU	c.287T>C (p.Phe96Ser) c.37T>C c.30T>C (p.Leu10=) c.-456T>C (n.-456T>C)	dbSNP gnomAD v2 gnomAD v4
17	g.42536559T>G	CA399595971	NAGLU	c.287T>G (p.Phe96Cys) c.37T>G c.30T>G (p.Leu10=) c.-456T>G (n.-456T>G)
17	g.42536559T=	CA2260526817	NAGLU	c.287T= (p.Phe96=) c.37T= c.30T= (p.Leu10=) c.-456T= (n.-456T=)
17	g.42536560C>A	CA399595974	NAGLU	c.288C>A (p.Phe96Leu) c.38C>A c.31C>A (p.Leu11Met) c.-455C>A (n.-455C>A)	gnomAD v4
17	g.42536560C=	CA2260526818	NAGLU	c.288C= (p.Phe96=) c.38C= c.31C= (p.Leu11=) c.-455C= (n.-455C=)
17	g.42536560C>G	CA399595976	NAGLU	c.288C>G (p.Phe96Leu) c.38C>G c.31C>G (p.Leu11Val) c.-455C>G (n.-455C>G)	dbSNP gnomAD v2 gnomAD v4
17	g.42536560C>T	CA8576700	NAGLU	c.288C>T (p.Phe96=) c.38C>T c.31C>T (p.Leu11=) c.-455C>T (n.-455C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536561T>A	CA399595980	NAGLU	c.289T>A (p.Cys97Ser) c.39T>A c.32T>A (p.Leu11Gln) c.-454T>A (n.-454T>A)
17	g.42536561T>C	CA399595981	NAGLU	c.289T>C (p.Cys97Arg) c.39T>C c.32T>C (p.Leu11Pro) c.-454T>C (n.-454T>C)	gnomAD v4
17	g.42536561T>G	CA399595982	NAGLU	c.289T>G (p.Cys97Gly) c.39T>G c.32T>G (p.Leu11Arg) c.-454T>G (n.-454T>G)
17	g.42536562G>A	CA399595984	NAGLU	c.290G>A (p.Cys97Tyr) c.40G>A c.33G>A (p.Leu11=) c.-453G>A (n.-453G>A)	gnomAD v4
17	g.42536562G>C	CA399595985	NAGLU	c.290G>C (p.Cys97Ser) c.40G>C c.33G>C (p.Leu11=) c.-453G>C (n.-453G>C)
17	g.42536562G>T	CA399595983	NAGLU	c.290G>T (p.Cys97Phe) c.40G>T c.33G>T (p.Leu11=) c.-453G>T (n.-453G>T)	gnomAD v4
17	g.42536563T>A	CA399595987	NAGLU	c.291T>A (p.Cys97Ter) c.41T>A c.34T>A (p.Trp12Arg) c.-452T>A (n.-452T>A)	gnomAD v4
17	g.42536563T>C	CA399595986	NAGLU	c.291T>C (p.Cys97=) c.41T>C c.34T>C (p.Trp12Arg) c.-452T>C (n.-452T>C)	gnomAD v4
17	g.42536563T>G	CA399595988	NAGLU	c.291T>G (p.Cys97Trp) c.41T>G c.34T>G (p.Trp12Gly) c.-452T>G (n.-452T>G)	ClinVar dbSNP gnomAD v4
17	g.42536563T=	CA2260526819	NAGLU	c.291T= (p.Cys97=) c.41T= c.34T= (p.Trp12=) c.-452T= (n.-452T=)
17	g.42536564G>A	CA399595989	NAGLU	c.292G>A (p.Gly98Ser) c.42G>A c.35G>A (p.Trp12Ter) c.-451G>A (n.-451G>A)	gnomAD v4
17	g.42536564G>C	CA399595990	NAGLU	c.292G>C (p.Gly98Arg) c.42G>C c.35G>C (p.Trp12Ser) c.-451G>C (n.-451G>C)
17	g.42536564G>T	CA399595991	NAGLU	c.292G>T (p.Gly98Cys) c.42G>T c.35G>T (p.Trp12Leu) c.-451G>T (n.-451G>T)	gnomAD v4
17	g.42536565del	CA2637966330	NAGLU	c.293del (p.Gly98AlafsTer24) c.43del c.36del (p.Trp12CysfsTer?) c.-450del (n.-450del)	gnomAD v4
17	g.42536565G>A	CA399595992	NAGLU	c.293G>A (p.Gly98Asp) c.43G>A c.36G>A (p.Trp12Ter) c.-450G>A (n.-450G>A)	gnomAD v4
17	g.42536565G>C	CA399595993	NAGLU	c.293G>C (p.Gly98Ala) c.43G>C c.36G>C (p.Trp12Cys) c.-450G>C (n.-450G>C)
17	g.42536565G>T	CA399595994	NAGLU	c.293G>T (p.Gly98Val) c.43G>T c.36G>T (p.Trp12Cys) c.-450G>T (n.-450G>T)	gnomAD v4
17	g.42536566C>A	CA399595995	NAGLU	c.294C>A (p.Gly98=) c.44C>A c.37C>A (p.Leu13Met) c.-449C>A (n.-449C>A)	gnomAD v4
17	g.42536566C=	CA2260526820	NAGLU	c.294C= (p.Gly98=) c.44C= c.37C= (p.Leu13=) c.-449C= (n.-449C=)
17	g.42536566C>G	CA399595996	NAGLU	c.294C>G (p.Gly98=) c.44C>G c.37C>G (p.Leu13Val) c.-449C>G (n.-449C>G)	dbSNP gnomAD v4
17	g.42536566C>T	CA500215769	NAGLU	c.294C>T (p.Gly98=) c.44C>T c.37C>T (p.Leu13=) c.-449C>T (n.-449C>T)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.42536567T>A	CA399595997	NAGLU	c.295T>A (p.Cys99Ser) c.45T>A c.38T>A (p.Leu13Gln) c.-448T>A (n.-448T>A)
17	g.42536567T>C	CA399595998	NAGLU	c.295T>C (p.Cys99Arg) c.45T>C c.38T>C (p.Leu13Pro) c.-448T>C (n.-448T>C)	gnomAD v4
17	g.42536567T>G	CA399595999	NAGLU	c.295T>G (p.Cys99Gly) c.45T>G c.38T>G (p.Leu13Arg) c.-448T>G (n.-448T>G)
17	g.42536567_42536576del	CA2637966332	NAGLU	c.295_304del (p.Cys99ProfsTer20) c.45_54del c.38_47del (p.Leu13ProfsTer?) c.-448_-439del (n.-448_-439del)	gnomAD v4
17	g.42536568G>A	CA399596002	NAGLU	c.296G>A (p.Cys99Tyr) c.46G>A c.39G>A (p.Leu13=) c.-447G>A (n.-447G>A)	gnomAD v4
17	g.42536568G>C	CA399596001	NAGLU	c.296G>C (p.Cys99Ser) c.46G>C c.39G>C (p.Leu13=) c.-447G>C (n.-447G>C)	gnomAD v4
17	g.42536568G>T	CA399596000	NAGLU	c.296G>T (p.Cys99Phe) c.46G>T c.39G>T (p.Leu13=) c.-447G>T (n.-447G>T)	gnomAD v4
17	g.42536569C>A	CA399596003	NAGLU	c.297C>A (p.Cys99Ter) c.47C>A c.40C>A (p.Pro14Thr) c.-446C>A (n.-446C>A)	gnomAD v4
17	g.42536569C=	CA2260526821	NAGLU	c.297C= (p.Cys99=) c.47C= c.40C= (p.Pro14=) c.-446C= (n.-446C=)
17	g.42536569C>G	CA399596004	NAGLU	c.297C>G (p.Cys99Trp) c.47C>G c.40C>G (p.Pro14Ala) c.-446C>G (n.-446C>G)	gnomAD v4
17	g.42536569C>T	CA399596005	NAGLU	c.297C>T (p.Cys99=) c.47C>T c.40C>T (p.Pro14Ser) c.-446C>T (n.-446C>T)	dbSNP gnomAD v4
17	g.42536570C>A	CA399596006	NAGLU	c.298C>A (p.His100Asn) c.48C>A c.41C>A (p.Pro14Gln) c.-445C>A (n.-445C>A)	gnomAD v4
17	g.42536570C=	CA2260526822	NAGLU	c.298C= (p.His100=) c.48C= c.41C= (p.Pro14=) c.-445C= (n.-445C=)
17	g.42536570C>G	CA399596007	NAGLU	c.298C>G (p.His100Asp) c.48C>G c.41C>G (p.Pro14Arg) c.-445C>G (n.-445C>G)	gnomAD v4
17	g.42536570C>T	CA399596008	NAGLU	c.298C>T (p.His100Tyr) c.48C>T c.41C>T (p.Pro14Leu) c.-445C>T (n.-445C>T)	dbSNP gnomAD v4
17	g.42536571A>C	CA399596009	NAGLU	c.299A>C (p.His100Pro) c.49A>C c.42A>C (p.Pro14=) c.-444A>C (n.-444A>C)
17	g.42536571A>G	CA399596010	NAGLU	c.299A>G (p.His100Arg) c.49A>G c.42A>G (p.Pro14=) c.-444A>G (n.-444A>G)
17	g.42536571A>T	CA399596011	NAGLU	c.299A>T (p.His100Leu) c.49A>T c.42A>T (p.Pro14=) c.-444A>T (n.-444A>T)
17	g.42536572C>A	CA399596012	NAGLU	c.300C>A (p.His100Gln) c.50C>A c.43C>A (p.Arg15Ser) c.-443C>A (n.-443C>A)	gnomAD v4
17	g.42536572C=	CA2260526823	NAGLU	c.300C= (p.His100=) c.50C= c.43C= (p.Arg15=) c.-443C= (n.-443C=)
17	g.42536572C>G	CA399596013	NAGLU	c.300C>G (p.His100Gln) c.50C>G c.43C>G (p.Arg15Gly) c.-443C>G (n.-443C>G)
17	g.42536572C>T	CA399596014	NAGLU	c.300C>T (p.His100=) c.50C>T c.43C>T (p.Arg15Cys) c.-443C>T (n.-443C>T)	dbSNP gnomAD v3 gnomAD v4
17	g.42536573G>A	CA399596016	NAGLU	c.301G>A (p.Val101Met) c.51G>A c.44G>A (p.Arg15His) c.-442G>A (n.-442G>A)	gnomAD v4
17	g.42536573G>C	CA399596017	NAGLU	c.301G>C (p.Val101Leu) c.51G>C c.44G>C (p.Arg15Pro) c.-442G>C (n.-442G>C)	dbSNP gnomAD v2 gnomAD v4
17	g.42536573G=	CA2260526824	NAGLU	c.301G= (p.Val101=) c.51G= c.44G= (p.Arg15=) c.-442G= (n.-442G=)
17	g.42536573G>T	CA399596015	NAGLU	c.301G>T (p.Val101Leu) c.51G>T c.44G>T (p.Arg15Leu) c.-442G>T (n.-442G>T)	gnomAD v4
17	g.42536574T>A	CA399596018	NAGLU	c.302T>A (p.Val101Glu) c.52T>A c.45T>A (p.Arg15=) c.-441T>A (n.-441T>A)
17	g.42536574T>C	CA399596019	NAGLU	c.302T>C (p.Val101Ala) c.52T>C c.45T>C (p.Arg15=) c.-441T>C (n.-441T>C)	gnomAD v4
17	g.42536574T>G	CA399596020	NAGLU	c.302T>G (p.Val101Gly) c.52T>G c.45T>G (p.Arg15=) c.-441T>G (n.-441T>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536574T=	CA2260526825	NAGLU	c.302T= (p.Val101=) c.52T= c.45T= (p.Arg15=) c.-441T= (n.-441T=)
17	g.42536575G>A	CA399596021	NAGLU	c.303G>A (p.Val101=) c.53G>A c.46G>A (p.Gly16Ser) c.-440G>A (n.-440G>A)	gnomAD v4
17	g.42536575G>C	CA399596022	NAGLU	c.303G>C (p.Val101=) c.53G>C c.46G>C (p.Gly16Arg) c.-440G>C (n.-440G>C)
17	g.42536575G>T	CA399596023	NAGLU	c.303G>T (p.Val101=) c.53G>T c.46G>T (p.Gly16Cys) c.-440G>T (n.-440G>T)	gnomAD v4
17	g.42536576G>A	CA399596026	NAGLU	c.304G>A (p.Ala102Thr) c.54G>A c.47G>A (p.Gly16Asp) c.-439G>A (n.-439G>A)	ClinVar gnomAD v4
17	g.42536576G>C	CA399596024	NAGLU	c.304G>C (p.Ala102Pro) c.54G>C c.47G>C (p.Gly16Ala) c.-439G>C (n.-439G>C)
17	g.42536576G>T	CA399596025	NAGLU	c.304G>T (p.Ala102Ser) c.54G>T c.47G>T (p.Gly16Val) c.-439G>T (n.-439G>T)	gnomAD v4

Number of alleles fetched