Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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.42536491_42536509del	CA626218536	NAGLU	c.219_237del (p.Arg74ProfsTer?)	ClinVar dbSNP gnomAD v2 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.42536494_42536519del	CA772109499	NAGLU	c.222_247del (p.Val75GlyfsTer?)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42536501_42536508del	CA2580093762	NAGLU	c.229_236del (p.Val77LeufsTer?)	ClinVar dbSNP
17	g.42536506_42536507del	CA2637966237	NAGLU	c.234_235del (p.Gly79LeufsTer?)	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
17	g.42536577C>A	CA399596027	NAGLU	c.305C>A (p.Ala102Asp) c.55C>A c.48C>A (p.Gly16=) c.-438C>A (n.-438C>A)	gnomAD v4
17	g.42536577C=	CA2260526826	NAGLU	c.305C= (p.Ala102=) c.55C= c.48C= (p.Gly16=) c.-438C= (n.-438C=)
17	g.42536577C>G	CA399596028	NAGLU	c.305C>G (p.Ala102Gly) c.55C>G c.48C>G (p.Gly16=) c.-438C>G (n.-438C>G)	dbSNP
17	g.42536577C>T	CA399596029	NAGLU	c.305C>T (p.Ala102Val) c.55C>T c.48C>T (p.Gly16=) c.-438C>T (n.-438C>T)	gnomAD v4
17	g.42536578C>A	CA399596030	NAGLU	c.306C>A (p.Ala102=) c.56C>A c.49C>A (p.Leu17Met) c.-437C>A (n.-437C>A)	gnomAD v4
17	g.42536578C=	CA2260526827	NAGLU	c.306C= (p.Ala102=) c.56C= c.49C= (p.Leu17=) c.-437C= (n.-437C=)
17	g.42536578C>G	CA399596031	NAGLU	c.306C>G (p.Ala102=) c.56C>G c.49C>G (p.Leu17Val) c.-437C>G (n.-437C>G)	ClinVar
17	g.42536578C>T	CA500215795	NAGLU	c.306C>T (p.Ala102=) c.56C>T c.49C>T (p.Leu17=) c.-437C>T (n.-437C>T)	ClinVar dbSNP gnomAD v4
17	g.42536579T>A	CA399596032	NAGLU	c.307T>A (p.Trp103Arg) c.57T>A c.50T>A (p.Leu17Gln) c.-436T>A (n.-436T>A)	gnomAD v4
17	g.42536579T>C	CA399596034	NAGLU	c.307T>C (p.Trp103Arg) c.57T>C c.50T>C (p.Leu17Pro) c.-436T>C (n.-436T>C)	gnomAD v4
17	g.42536579T>G	CA399596033	NAGLU	c.307T>G (p.Trp103Gly) c.57T>G c.50T>G (p.Leu17Arg) c.-436T>G (n.-436T>G)
17	g.42536580G>A	CA399596035	NAGLU	c.308G>A (p.Trp103Ter) c.58G>A c.51G>A (p.Leu17=) c.-435G>A (n.-435G>A)	ClinVar dbSNP gnomAD v4
17	g.42536580G>C	CA399596036	NAGLU	c.308G>C (p.Trp103Ser) c.58G>C c.51G>C (p.Leu17=) c.-435G>C (n.-435G>C)	dbSNP gnomAD v4
17	g.42536580G=	CA2260526828	NAGLU	c.308G= (p.Trp103=) c.58G= c.51G= (p.Leu17=) c.-435G= (n.-435G=)
17	g.42536580G>T	CA399596037	NAGLU	c.308G>T (p.Trp103Leu) c.58G>T c.51G>T (p.Leu17=) c.-435G>T (n.-435G>T)	gnomAD v4
17	g.42536581G>A	CA399596038	NAGLU	c.309G>A (p.Trp103Ter) c.59G>A c.52G>A (p.Val18Ile) c.-434G>A (n.-434G>A)	ClinVar dbSNP gnomAD v4
17	g.42536581G>C	CA399596039	NAGLU	c.309G>C (p.Trp103Cys) c.59G>C c.52G>C (p.Val18Leu) c.-434G>C (n.-434G>C)
17	g.42536581G=	CA2260526829	NAGLU	c.309G= (p.Trp103=) c.59G= c.52G= (p.Val18=) c.-434G= (n.-434G=)
17	g.42536581G>T	CA399596040	NAGLU	c.309G>T (p.Trp103Cys) c.59G>T c.52G>T (p.Val18Phe) c.-434G>T (n.-434G>T)
17	g.42536582T>A	CA399596041	NAGLU	c.310T>A (p.Ser104Thr) c.60T>A c.53T>A (p.Val18Asp) c.-433T>A (n.-433T>A)
17	g.42536582T>C	CA399596042	NAGLU	c.310T>C (p.Ser104Pro) c.60T>C c.53T>C (p.Val18Ala) c.-433T>C (n.-433T>C)	gnomAD v4
17	g.42536582T>G	CA399596043	NAGLU	c.310T>G (p.Ser104Ala) c.60T>G c.53T>G (p.Val18Gly) c.-433T>G (n.-433T>G)
17	g.42536583C>A	CA399596044	NAGLU	c.311C>A (p.Ser104Tyr) c.61C>A c.54C>A (p.Val18=) c.-432C>A (n.-432C>A)	ClinVar dbSNP gnomAD v4
17	g.42536583C>G	CA399596045	NAGLU	c.311C>G (p.Ser104Cys) c.61C>G c.54C>G (p.Val18=) c.-432C>G (n.-432C>G)
17	g.42536583C>T	CA399596046	NAGLU	c.311C>T (p.Ser104Phe) c.61C>T c.54C>T (p.Val18=) c.-432C>T (n.-432C>T)
17	g.42536584C>A	CA500215815	NAGLU	c.312C>A (p.Ser104=) c.62C>A c.55C>A (p.Arg19=) c.-431C>A (n.-431C>A)	gnomAD v4
17	g.42536584C>G	CA399596048	NAGLU	c.312C>G (p.Ser104=) c.62C>G c.55C>G (p.Arg19Gly) c.-431C>G (n.-431C>G)	gnomAD v4
17	g.42536584C>T	CA399596047	NAGLU	c.312C>T (p.Ser104=) c.62C>T c.55C>T (p.Arg19Trp) c.-431C>T (n.-431C>T)	ClinVar gnomAD v4
17	g.42536585G>A	CA399596049	NAGLU	c.313G>A (p.Gly105Ser) c.63G>A c.56G>A (p.Arg19Gln) c.-430G>A (n.-430G>A)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42536585G>C	CA399596051	NAGLU	c.313G>C (p.Gly105Arg) c.63G>C c.56G>C (p.Arg19Pro) c.-430G>C (n.-430G>C)	dbSNP gnomAD v3 gnomAD v4
17	g.42536585G=	CA2260526830	NAGLU	c.313G= (p.Gly105=) c.63G= c.56G= (p.Arg19=) c.-430G= (n.-430G=)
17	g.42536585G>T	CA399596050	NAGLU	c.313G>T (p.Gly105Cys) c.63G>T c.56G>T (p.Arg19Leu) c.-430G>T (n.-430G>T)	gnomAD v4
17	g.42536586G>A	CA399596052	NAGLU	c.314G>A (p.Gly105Asp) c.64G>A c.57G>A (p.Arg19=) c.-429G>A (n.-429G>A)	gnomAD v4
17	g.42536586G>C	CA399596053	NAGLU	c.314G>C (p.Gly105Ala) c.64G>C c.57G>C (p.Arg19=) c.-429G>C (n.-429G>C)	ClinVar
17	g.42536586G>T	CA399596054	NAGLU	c.314G>T (p.Gly105Val) c.64G>T c.57G>T (p.Arg19=) c.-429G>T (n.-429G>T)	gnomAD v4
17	g.42536589_42536595del	CA2573154146	NAGLU	c.317_323del (p.Ser106CysfsTer14) c.67_73del c.60_66del (p.Ser21ArgfsTer27) c.-426_-420del (n.-426_-420del)	ClinVar dbSNP
17	g.42536587C>A	CA399596055	NAGLU	c.315C>A (p.Gly105=) c.65C>A c.58C>A (p.Leu20Ile) c.-428C>A (n.-428C>A)	gnomAD v4
17	g.42536587C>G	CA399596056	NAGLU	c.315C>G (p.Gly105=) c.65C>G c.58C>G (p.Leu20Val) c.-428C>G (n.-428C>G)	ClinVar dbSNP gnomAD v4
17	g.42536587C>T	CA399596057	NAGLU	c.315C>T (p.Gly105=) c.65C>T c.58C>T (p.Leu20Phe) c.-428C>T (n.-428C>T)
17	g.42536588T>A	CA399596058	NAGLU	c.316T>A (p.Ser106Thr) c.66T>A c.59T>A (p.Leu20His) c.-427T>A (n.-427T>A)
17	g.42536588T>C	CA399596060	NAGLU	c.316T>C (p.Ser106Pro) c.66T>C c.59T>C (p.Leu20Pro) c.-427T>C (n.-427T>C)	gnomAD v4
17	g.42536588T>G	CA399596062	NAGLU	c.316T>G (p.Ser106Ala) c.66T>G c.59T>G (p.Leu20Arg) c.-427T>G (n.-427T>G)
17	g.42536589C>A	CA399596064	NAGLU	c.317C>A (p.Ser106Tyr) c.67C>A c.60C>A (p.Leu20=) c.-426C>A (n.-426C>A)	gnomAD v4
17	g.42536589C=	CA2260526831	NAGLU	c.317C= (p.Ser106=) c.67C= c.60C= (p.Leu20=) c.-426C= (n.-426C=)
17	g.42536589C>G	CA399596065	NAGLU	c.317C>G (p.Ser106Cys) c.67C>G c.60C>G (p.Leu20=) c.-426C>G (n.-426C>G)
17	g.42536589C>T	CA399596067	NAGLU	c.317C>T (p.Ser106Phe) c.67C>T c.60C>T (p.Leu20=) c.-426C>T (n.-426C>T)	ClinVar dbSNP gnomAD v4
17	g.42536590T>A	CA399596073	NAGLU	c.318T>A (p.Ser106=) c.68T>A c.61T>A (p.Ser21Thr) c.-425T>A (n.-425T>A)	gnomAD v4
17	g.42536590T>C	CA399596072	NAGLU	c.318T>C (p.Ser106=) c.68T>C c.61T>C (p.Ser21Pro) c.-425T>C (n.-425T>C)	gnomAD v4
17	g.42536590T>G	CA399596070	NAGLU	c.318T>G (p.Ser106=) c.68T>G c.61T>G (p.Ser21Ala) c.-425T>G (n.-425T>G)	ClinVar
17	g.42536591C>A	CA399596075	NAGLU	c.319C>A (p.Gln107Lys) c.69C>A c.62C>A (p.Ser21Ter) c.-424C>A (n.-424C>A)	gnomAD v4
17	g.42536591C=	CA2260526832	NAGLU	c.319C= (p.Gln107=) c.69C= c.62C= (p.Ser21=) c.-424C= (n.-424C=)
17	g.42536591C>G	CA399596076	NAGLU	c.319C>G (p.Gln107Glu) c.69C>G c.62C>G (p.Ser21Ter) c.-424C>G (n.-424C>G)	gnomAD v4
17	g.42536591C>T	CA399596077	NAGLU	c.319C>T (p.Gln107Ter) c.69C>T c.62C>T (p.Ser21Leu) c.-424C>T (n.-424C>T)	gnomAD v4
17	g.42536592A>C	CA399596079	NAGLU	c.320A>C (p.Gln107Pro) c.70A>C c.63A>C (p.Ser21=) c.-423A>C (n.-423A>C)
17	g.42536592A>G	CA399596081	NAGLU	c.320A>G (p.Gln107Arg) c.70A>G c.63A>G (p.Ser21=) c.-423A>G (n.-423A>G)	ClinVar gnomAD v4
17	g.42536592A>T	CA399596083	NAGLU	c.320A>T (p.Gln107Leu) c.70A>T c.63A>T (p.Ser21=) c.-423A>T (n.-423A>T)
17	g.42536592dup	CA2260526833	NAGLU	c.320dup (p.Leu108AlafsTer?) c.70dup c.63dup (p.Ala22SerfsTer15) c.-423dup (n.-423dup) c.320dup (p.Leu108AlafsTer28)	dbSNP
17	g.42536593G>A	CA8576701	NAGLU	c.321G>A (p.Gln107=) c.71G>A c.64G>A (p.Ala22Thr) c.-422G>A (n.-422G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.42536593G>C	CA399596086	NAGLU	c.321G>C (p.Gln107His) c.71G>C c.64G>C (p.Ala22Pro) c.-422G>C (n.-422G>C)	gnomAD v4
17	g.42536593G=	CA2260526834	NAGLU	c.321G= (p.Gln107=) c.71G= c.64G= (p.Ala22=) c.-422G= (n.-422G=)
17	g.42536593G>T	CA399596088	NAGLU	c.321G>T (p.Gln107His) c.71G>T c.64G>T (p.Ala22Ser) c.-422G>T (n.-422G>T)	gnomAD v4
17	g.42536594C>A	CA399596090	NAGLU	c.322C>A (p.Leu108Met) c.72C>A c.65C>A (p.Ala22Asp) c.-421C>A (n.-421C>A)	gnomAD v4
17	g.42536594C=	CA2260526835	NAGLU	c.322C= (p.Leu108=) c.72C= c.65C= (p.Ala22=) c.-421C= (n.-421C=)
17	g.42536594C>G	CA399596092	NAGLU	c.322C>G (p.Leu108Val) c.72C>G c.65C>G (p.Ala22Gly) c.-421C>G (n.-421C>G)
17	g.42536594C>T	CA399596094	NAGLU	c.322C>T (p.Leu108=) c.72C>T c.65C>T (p.Ala22Val) c.-421C>T (n.-421C>T)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.42536595T>A	CA399596099	NAGLU	c.323T>A (p.Leu108Gln) c.73T>A c.66T>A (p.Ala22=) c.-420T>A (n.-420T>A)	gnomAD v4
17	g.42536595T>C	CA399596097	NAGLU	c.323T>C (p.Leu108Pro) c.73T>C c.66T>C (p.Ala22=) c.-420T>C (n.-420T>C)	dbSNP gnomAD v4
17	g.42536595T>G	CA399596096	NAGLU	c.323T>G (p.Leu108Arg) c.73T>G c.66T>G (p.Ala22=) c.-420T>G (n.-420T>G)
17	g.42536595T=	CA2260526836	NAGLU	c.323T= (p.Leu108=) c.73T= c.66T= (p.Ala22=) c.-420T= (n.-420T=)
17	g.42536596G>A	CA399596101	NAGLU	c.324G>A (p.Leu108=) c.74G>A c.67G>A (p.Ala23Thr) c.-419G>A (n.-419G>A)	gnomAD v4
17	g.42536596G>C	CA399596102	NAGLU	c.324G>C (p.Leu108=) c.74G>C c.67G>C (p.Ala23Pro) c.-419G>C (n.-419G>C)
17	g.42536596G>T	CA399596104	NAGLU	c.324G>T (p.Leu108=) c.74G>T c.67G>T (p.Ala23Ser) c.-419G>T (n.-419G>T)
17	g.42536597C>A	CA399596107	NAGLU	c.325C>A (p.Arg109Ser) c.75C>A c.68C>A (p.Ala23Glu) c.-418C>A (n.-418C>A)	gnomAD v4
17	g.42536597C>G	CA399596108	NAGLU	c.325C>G (p.Arg109Gly) c.75C>G c.68C>G (p.Ala23Gly) c.-418C>G (n.-418C>G)
17	g.42536597C>T	CA399596109	NAGLU	c.325C>T (p.Arg109Cys) c.75C>T c.68C>T (p.Ala23Val) c.-418C>T (n.-418C>T)	gnomAD v4
17	g.42536598del	CA2695226052	NAGLU	c.326del (p.Arg109ProfsTer13) c.76del c.69del (p.Pro24LeufsTer26) c.-417del (n.-417del)
17	g.42536598G>A	CA399596114	NAGLU	c.326G>A (p.Arg109His) c.76G>A c.69G>A (p.Ala23=) c.-417G>A (n.-417G>A)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.42536598G>C	CA399596113	NAGLU	c.326G>C (p.Arg109Pro) c.76G>C c.69G>C (p.Ala23=) c.-417G>C (n.-417G>C)
17	g.42536598G=	CA2260526837	NAGLU	c.326G= (p.Arg109=) c.76G= c.69G= (p.Ala23=) c.-417G= (n.-417G=)
17	g.42536598G>T	CA399596112	NAGLU	c.326G>T (p.Arg109Leu) c.76G>T c.69G>T (p.Ala23=) c.-417G>T (n.-417G>T)	ClinVar gnomAD v4
17	g.42536599C>A	CA399596116	NAGLU	c.327C>A (p.Arg109=) c.77C>A c.70C>A (p.Pro24Thr) c.-416C>A (n.-416C>A)	ClinVar gnomAD v4
17	g.42536599C>G	CA399596118	NAGLU	c.327C>G (p.Arg109=) c.77C>G c.70C>G (p.Pro24Ala) c.-416C>G (n.-416C>G)
17	g.42536599C>T	CA399596119	NAGLU	c.327C>T (p.Arg109=) c.77C>T c.70C>T (p.Pro24Ser) c.-416C>T (n.-416C>T)	ClinVar dbSNP gnomAD v4
17	g.42536600C>A	CA399596121	NAGLU	c.328C>A (p.Leu110Met) c.78C>A c.71C>A (p.Pro24His) c.-415C>A (n.-415C>A)	gnomAD v4
17	g.42536600C=	CA2260526839	NAGLU	c.328C= (p.Leu110=) c.78C= c.71C= (p.Pro24=) c.-415C= (n.-415C=)
17	g.42536600C>G	CA399596123	NAGLU	c.328C>G (p.Leu110Val) c.78C>G c.71C>G (p.Pro24Arg) c.-415C>G (n.-415C>G)
17	g.42536600C>T	CA399596125	NAGLU	c.328C>T (p.Leu110=) c.78C>T c.71C>T (p.Pro24Leu) c.-415C>T (n.-415C>T)	dbSNP gnomAD v4
17	g.42536600_42536601delinsCT	CA2260526838	NAGLU	c.328_329delinsCT (p.Leu110=) c.78_79delinsCT c.71_72delinsCT (p.Pro24=) c.-415_-414delinsCT (n.-415_-414delinsCT)
17	g.42536605_42536616del	CA2740095358	NAGLU	c.333_344del (p.Arg112_Pro115del) c.83_94del c.76_87del (p.Ala26_Ala29del) c.-410_-399del (n.-410_-399del)	ClinVar
17	g.42536601del	CA772109676	NAGLU	c.329del (p.Leu110ArgfsTer12) c.79del c.72del (p.Ala25ProfsTer25) c.-414del (n.-414del)	dbSNP gnomAD v3 gnomAD v4
17	g.42536601T>A	CA399596127	NAGLU	c.329T>A (p.Leu110Gln) c.79T>A c.72T>A (p.Pro24=) c.-414T>A (n.-414T>A)	gnomAD v4
17	g.42536601T>C	CA399596130	NAGLU	c.329T>C (p.Leu110Pro) c.79T>C c.72T>C (p.Pro24=) c.-414T>C (n.-414T>C)	gnomAD v4
17	g.42536601T>G	CA399596129	NAGLU	c.329T>G (p.Leu110Arg) c.79T>G c.72T>G (p.Pro24=) c.-414T>G (n.-414T>G)	gnomAD v4
17	g.42536601dup	CA2580093764	NAGLU	c.329dup (p.Pro111AlafsTer?) c.79dup c.72dup (p.Ala25CysfsTer12) c.-414dup (n.-414dup) c.329dup (p.Pro111AlafsTer25)	ClinVar
17	g.42536602G>A	CA399596133	NAGLU	c.330G>A (p.Leu110=) c.80G>A c.73G>A (p.Ala25Thr) c.-413G>A (n.-413G>A)	gnomAD v4
17	g.42536602G>C	CA399596134	NAGLU	c.330G>C (p.Leu110=) c.80G>C c.73G>C (p.Ala25Pro) c.-413G>C (n.-413G>C)	gnomAD v4
17	g.42536602G=	CA2260526840	NAGLU	c.330G= (p.Leu110=) c.80G= c.73G= (p.Ala25=) c.-413G= (n.-413G=)
17	g.42536602G>T	CA399596135	NAGLU	c.330G>T (p.Leu110=) c.80G>T c.73G>T (p.Ala25Ser) c.-413G>T (n.-413G>T)	dbSNP gnomAD v2 gnomAD v4
17	g.42536603C>A	CA399596137	NAGLU	c.331C>A (p.Pro111Thr) c.81C>A c.74C>A (p.Ala25Asp) c.-412C>A (n.-412C>A)	gnomAD v4
17	g.42536603C>G	CA399596139	NAGLU	c.331C>G (p.Pro111Ala) c.81C>G c.74C>G (p.Ala25Gly) c.-412C>G (n.-412C>G)
17	g.42536603C>T	CA399596141	NAGLU	c.331C>T (p.Pro111Ser) c.81C>T c.74C>T (p.Ala25Val) c.-412C>T (n.-412C>T)	dbSNP gnomAD v3 gnomAD v4
17	g.42536604C>A	CA399596143	NAGLU	c.332C>A (p.Pro111Gln) c.82C>A c.75C>A (p.Ala25=) c.-411C>A (n.-411C>A)	gnomAD v4
17	g.42536604C=	CA2260526841	NAGLU	c.332C= (p.Pro111=) c.82C= c.75C= (p.Ala25=) c.-411C= (n.-411C=)
17	g.42536604C>G	CA399596145	NAGLU	c.332C>G (p.Pro111Arg) c.82C>G c.75C>G (p.Ala25=) c.-411C>G (n.-411C>G)	dbSNP gnomAD v4
17	g.42536604C>T	CA399596147	NAGLU	c.332C>T (p.Pro111Leu) c.82C>T c.75C>T (p.Ala25=) c.-411C>T (n.-411C>T)	ClinVar dbSNP gnomAD v4
17	g.42536605G>A	CA399596148	NAGLU	c.333G>A (p.Pro111=) c.83G>A c.76G>A (p.Ala26Thr) c.-410G>A (n.-410G>A)	gnomAD v4
17	g.42536605G>C	CA399596150	NAGLU	c.333G>C (p.Pro111=) c.83G>C c.76G>C (p.Ala26Pro) c.-410G>C (n.-410G>C)
17	g.42536605G>T	CA399596151	NAGLU	c.333G>T (p.Pro111=) c.83G>T c.76G>T (p.Ala26Ser) c.-410G>T (n.-410G>T)	gnomAD v4
17	g.42536606_42536630del	CA2573130377	NAGLU	c.334_358del (p.Arg112SerfsTer2) c.84_108del c.77_101del (p.Ala26GlufsTer16) c.-409_-385del (n.-409_-385del)

Number of alleles fetched