Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.42536346_42536379delinsAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGT	CA2260526704	NAGLU	c.74_107delinsAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGT (p.Glu25=)
17	g.42536354_42536386del	CA1139665539	NAGLU	c.82_114del (p.Glu28_Arg38del)	ClinVar dbSNP
17	g.42536377C>A	CA500215850	NAGLU	c.105C>A (p.Leu35=)	gnomAD v4
17	g.42536377C=	CA2260526718	NAGLU	c.105C= (p.Leu35=)
17	g.42536377C>G	CA500215848	NAGLU	c.105C>G (p.Leu35=)	gnomAD v4
17	g.42536377C>T	CA290771258	NAGLU	c.105C>T (p.Leu35=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42536379_42536385del	CA2637965723	NAGLU	c.107_113del (p.Val36GlyfsTer?)	gnomAD v4
17	g.42536378G>A	CA399595320	NAGLU	c.106G>A (p.Val36Met)	gnomAD v4
17	g.42536378G>C	CA399595321	NAGLU	c.106G>C (p.Val36Leu)	gnomAD v4
17	g.42536378G>T	CA399595322	NAGLU	c.106G>T (p.Val36Leu)	gnomAD v4
17	g.42536379T>A	CA399595323	NAGLU	c.107T>A (p.Val36Glu)
17	g.42536379T>C	CA399595324	NAGLU	c.107T>C (p.Val36Ala)	gnomAD v4
17	g.42536379T>G	CA399595325	NAGLU	c.107T>G (p.Val36Gly)	gnomAD v4
17	g.42536380G>A	CA500215854	NAGLU	c.108G>A (p.Val36=)	dbSNP gnomAD v3 gnomAD v4
17	g.42536380G>C	CA500215855	NAGLU	c.108G>C (p.Val36=)
17	g.42536380G=	CA2260526719	NAGLU	c.108G= (p.Val36=)
17	g.42536380G>T	CA500215853	NAGLU	c.108G>T (p.Val36=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42536381G>A	CA399595326	NAGLU	c.109G>A (p.Ala37Thr)	gnomAD v4
17	g.42536381G>C	CA399595327	NAGLU	c.109G>C (p.Ala37Pro)	gnomAD v4
17	g.42536381G=	CA2260526720	NAGLU	c.109G= (p.Ala37=)
17	g.42536381G>T	CA399595328	NAGLU	c.109G>T (p.Ala37Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536382C>A	CA399595329	NAGLU	c.110C>A (p.Ala37Asp)	gnomAD v4
17	g.42536382C>G	CA399595330	NAGLU	c.110C>G (p.Ala37Gly)	gnomAD v4
17	g.42536382C>T	CA399595331	NAGLU	c.110C>T (p.Ala37Val)	gnomAD v4
17	g.42536384del	CA2637965729	NAGLU	c.112del (p.Arg38GlyfsTer?)	gnomAD v4
17	g.42536383C>A	CA500215866	NAGLU	c.111C>A (p.Ala37=)	gnomAD v4
17	g.42536383C>G	CA500215863	NAGLU	c.111C>G (p.Ala37=)	ClinVar dbSNP gnomAD v4
17	g.42536383C>T	CA500215869	NAGLU	c.111C>T (p.Ala37=)	gnomAD v4
17	g.42536383_42536392delinsAGCC	CA2580093746	NAGLU	c.111_120delinsAGCC (p.Arg38_Leu40delinsAla)	ClinVar dbSNP
17	g.42536384C>A	CA500215871	NAGLU	c.112C>A (p.Arg38=)	dbSNP gnomAD v4
17	g.42536384C=	CA2260526721	NAGLU	c.112C= (p.Arg38=)
17	g.42536384C>G	CA399595332	NAGLU	c.112C>G (p.Arg38Gly)
17	g.42536384C>T	CA399595333	NAGLU	c.112C>T (p.Arg38Trp)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42536385G>A	CA399595334	NAGLU	c.113G>A (p.Arg38Gln)	gnomAD v4
17	g.42536385G>C	CA399595335	NAGLU	c.113G>C (p.Arg38Pro)	gnomAD v4
17	g.42536385G>T	CA399595336	NAGLU	c.113G>T (p.Arg38Leu)	gnomAD v4
17	g.42536387_42536394del	CA2573154144	NAGLU	c.115_122del (p.Leu39AlafsTer?)	dbSNP
17	g.42536386G>A	CA500215872	NAGLU	c.114G>A (p.Arg38=)	gnomAD v4
17	g.42536386G>C	CA500215875	NAGLU	c.114G>C (p.Arg38=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42536386G=	CA2260526722	NAGLU	c.114G= (p.Arg38=)
17	g.42536386G>T	CA500215873	NAGLU	c.114G>T (p.Arg38=)	gnomAD v4
17	g.42536387C>A	CA399595337	NAGLU	c.115C>A (p.Leu39Met)	gnomAD v4
17	g.42536387C>G	CA399595338	NAGLU	c.115C>G (p.Leu39Val)	gnomAD v4
17	g.42536387C>T	CA500215877	NAGLU	c.115C>T (p.Leu39=)	ClinVar dbSNP gnomAD v4
17	g.42536388T>A	CA399595339	NAGLU	c.116T>A (p.Leu39Gln)
17	g.42536388T>C	CA399595340	NAGLU	c.116T>C (p.Leu39Pro)	gnomAD v4
17	g.42536388T>G	CA399595341	NAGLU	c.116T>G (p.Leu39Arg)
17	g.42536389G>A	CA500215878	NAGLU	c.117G>A (p.Leu39=)	dbSNP gnomAD v4
17	g.42536389G>C	CA500215879	NAGLU	c.117G>C (p.Leu39=)
17	g.42536389G=	CA2260526723	NAGLU	c.117G= (p.Leu39=)
17	g.42536389G>T	CA500215881	NAGLU	c.117G>T (p.Leu39=)	gnomAD v4
17	g.42536390C>A	CA399595342	NAGLU	c.118C>A (p.Leu40Met)	gnomAD v4
17	g.42536390C>G	CA399595343	NAGLU	c.118C>G (p.Leu40Val)	gnomAD v4
17	g.42536390C>T	CA500215884	NAGLU	c.118C>T (p.Leu40=)	gnomAD v4
17	g.42536391T>A	CA399595344	NAGLU	c.119T>A (p.Leu40Gln)
17	g.42536391T>C	CA399595346	NAGLU	c.119T>C (p.Leu40Pro)	gnomAD v4
17	g.42536391T>G	CA399595347	NAGLU	c.119T>G (p.Leu40Arg)	ClinVar
17	g.42536392G>A	CA500215887	NAGLU	c.120G>A (p.Leu40=)	ClinVar gnomAD v4
17	g.42536392G>C	CA500215885	NAGLU	c.120G>C (p.Leu40=)
17	g.42536392G>T	CA500215886	NAGLU	c.120G>T (p.Leu40=)	ClinVar dbSNP gnomAD v4
17	g.42536395del	CA2637965748	NAGLU	c.123del (p.Pro42GlnfsTer?)	gnomAD v4
17	g.42536393G>A	CA399595350	NAGLU	c.121G>A (p.Gly41Arg)	gnomAD v4
17	g.42536393G>C	CA399595351	NAGLU	c.121G>C (p.Gly41Arg)	gnomAD v4
17	g.42536393G>T	CA399595349	NAGLU	c.121G>T (p.Gly41Trp)	gnomAD v4
17	g.42536394G>A	CA399595354	NAGLU	c.122G>A (p.Gly41Glu)	gnomAD v4
17	g.42536394G>C	CA399595352	NAGLU	c.122G>C (p.Gly41Ala)
17	g.42536394G>T	CA399595353	NAGLU	c.122G>T (p.Gly41Val)	gnomAD v4
17	g.42536395G>A	CA500215894	NAGLU	c.123G>A (p.Gly41=)	gnomAD v4
17	g.42536395G>C	CA500215893	NAGLU	c.123G>C (p.Gly41=)
17	g.42536395G=	CA2260526724	NAGLU	c.123G= (p.Gly41=)
17	g.42536395G>T	CA500215895	NAGLU	c.123G>T (p.Gly41=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.42536396C>A	CA399595355	NAGLU	c.124C>A (p.Pro42Thr)	gnomAD v4
17	g.42536396C>G	CA399595356	NAGLU	c.124C>G (p.Pro42Ala)	gnomAD v4
17	g.42536396C>T	CA399595357	NAGLU	c.124C>T (p.Pro42Ser)	gnomAD v4
17	g.42536397del	CA2637965755	NAGLU	c.125del (p.Pro42GlnfsTer?)	gnomAD v4
17	g.42536397C>A	CA399595358	NAGLU	c.125C>A (p.Pro42Gln)	gnomAD v4
17	g.42536397C=	CA2260526725	NAGLU	c.125C= (p.Pro42=)
17	g.42536397C>G	CA399595359	NAGLU	c.125C>G (p.Pro42Arg)	gnomAD v4
17	g.42536397C>T	CA399595360	NAGLU	c.125C>T (p.Pro42Leu)	dbSNP gnomAD v2 gnomAD v4
17	g.42536398A=	CA2260526726	NAGLU	c.126A= (p.Pro42=)
17	g.42536398A>C	CA500215900	NAGLU	c.126A>C (p.Pro42=)
17	g.42536398A>G	CA500215902	NAGLU	c.126A>G (p.Pro42=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.42536398A>T	CA500215904	NAGLU	c.126A>T (p.Pro42=)	gnomAD v4
17	g.42536399G>A	CA399595361	NAGLU	c.127G>A (p.Gly43Ser)	gnomAD v4
17	g.42536399G>C	CA399595362	NAGLU	c.127G>C (p.Gly43Arg)	gnomAD v4
17	g.42536399G>T	CA399595363	NAGLU	c.127G>T (p.Gly43Cys)	dbSNP gnomAD v4
17	g.42536400G>A	CA399595364	NAGLU	c.128G>A (p.Gly43Asp)	dbSNP gnomAD v3 gnomAD v4
17	g.42536400G>C	CA399595365	NAGLU	c.128G>C (p.Gly43Ala)
17	g.42536400G=	CA2260526727	NAGLU	c.128G= (p.Gly43=)
17	g.42536400G>T	CA399595366	NAGLU	c.128G>T (p.Gly43Val)	gnomAD v4
17	g.42536401C>A	CA500215909	NAGLU	c.129C>A (p.Gly43=)	ClinVar gnomAD v4
17	g.42536401C>G	CA500215908	NAGLU	c.129C>G (p.Gly43=)
17	g.42536401C>T	CA500215907	NAGLU	c.129C>T (p.Gly43=)	gnomAD v4
17	g.42536404del	CA2637965761	NAGLU	c.132del (p.Ala45ArgfsTer?)	gnomAD v4
17	g.42536402C>A	CA399595369	NAGLU	c.130C>A (p.Pro44Thr)	gnomAD v4
17	g.42536402C>G	CA399595368	NAGLU	c.130C>G (p.Pro44Ala)
17	g.42536402C>T	CA399595367	NAGLU	c.130C>T (p.Pro44Ser)	gnomAD v4
17	g.42536403C>A	CA399595370	NAGLU	c.131C>A (p.Pro44His)	gnomAD v4
17	g.42536403C>G	CA399595371	NAGLU	c.131C>G (p.Pro44Arg)	gnomAD v4
17	g.42536403C>T	CA399595372	NAGLU	c.131C>T (p.Pro44Leu)	gnomAD v4
17	g.42536404C>A	CA500215916	NAGLU	c.132C>A (p.Pro44=)	ClinVar gnomAD v4
17	g.42536404C=	CA2260526728	NAGLU	c.132C= (p.Pro44=)
17	g.42536404C>G	CA500215920	NAGLU	c.132C>G (p.Pro44=)	ClinVar dbSNP gnomAD v4
17	g.42536404C>T	CA500215914	NAGLU	c.132C>T (p.Pro44=)	gnomAD v4
17	g.42536404_42536405insT	CA2637965770	NAGLU	c.132_133insT (p.Ala45CysfsTer?)	gnomAD v4
17	g.42536405G>A	CA399595373	NAGLU	c.133G>A (p.Ala45Thr)	gnomAD v4
17	g.42536405G>C	CA399595374	NAGLU	c.133G>C (p.Ala45Pro)	gnomAD v4
17	g.42536405G>T	CA399595375	NAGLU	c.133G>T (p.Ala45Ser)	gnomAD v4
17	g.42536406C>A	CA399595376	NAGLU	c.134C>A (p.Ala45Glu)	gnomAD v4
17	g.42536406C=	CA2260526729	NAGLU	c.134C= (p.Ala45=)
17	g.42536406C>G	CA399595377	NAGLU	c.134C>G (p.Ala45Gly)	gnomAD v4
17	g.42536406C>T	CA399595378	NAGLU	c.134C>T (p.Ala45Val)	dbSNP gnomAD v4
17	g.42536407G>A	CA500215926	NAGLU	c.135G>A (p.Ala45=)	dbSNP gnomAD v4
17	g.42536407G>C	CA500215924	NAGLU	c.135G>C (p.Ala45=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42536407G=	CA2260526730	NAGLU	c.135G= (p.Ala45=)
17	g.42536407G>T	CA500215929	NAGLU	c.135G>T (p.Ala45=)	gnomAD v4
17	g.42536408del	CA2499224327	NAGLU	c.136del (p.Ala46ProfsTer?)	ClinVar dbSNP
17	g.42536408G>A	CA399595379	NAGLU	c.136G>A (p.Ala46Thr)	dbSNP gnomAD v2 gnomAD v4
17	g.42536408G>C	CA399595380	NAGLU	c.136G>C (p.Ala46Pro)	gnomAD v4
17	g.42536408G=	CA2260526731	NAGLU	c.136G= (p.Ala46=)
17	g.42536408G>T	CA399595382	NAGLU	c.136G>T (p.Ala46Ser)	gnomAD v4
17	g.42536409C>A	CA399595384	NAGLU	c.137C>A (p.Ala46Asp)	dbSNP gnomAD v4
17	g.42536409C=	CA2260526732	NAGLU	c.137C= (p.Ala46=)
17	g.42536409C>G	CA399595386	NAGLU	c.137C>G (p.Ala46Gly)	gnomAD v4
17	g.42536409C>T	CA399595387	NAGLU	c.137C>T (p.Ala46Val)	gnomAD v4
17	g.42536410C>A	CA500215932	NAGLU	c.138C>A (p.Ala46=)	ClinVar dbSNP gnomAD v4
17	g.42536410C>G	CA500215935	NAGLU	c.138C>G (p.Ala46=)	gnomAD v4
17	g.42536410C>T	CA500215934	NAGLU	c.138C>T (p.Ala46=)	gnomAD v4
17	g.42536411G>A	CA399595390	NAGLU	c.139G>A (p.Asp47Asn)	gnomAD v4
17	g.42536411G>C	CA399595392	NAGLU	c.139G>C (p.Asp47His)	gnomAD v4
17	g.42536411G>T	CA399595388	NAGLU	c.139G>T (p.Asp47Tyr)	gnomAD v4
17	g.42536412A>C	CA399595393	NAGLU	c.140A>C (p.Asp47Ala)
17	g.42536412A>G	CA399595394	NAGLU	c.140A>G (p.Asp47Gly)	gnomAD v4
17	g.42536412A>T	CA399595395	NAGLU	c.140A>T (p.Asp47Val)	gnomAD v4
17	g.42536413C>A	CA399595396	NAGLU	c.141C>A (p.Asp47Glu)	gnomAD v4
17	g.42536413C>G	CA399595398	NAGLU	c.141C>G (p.Asp47Glu)	gnomAD v4
17	g.42536413C>T	CA500215943	NAGLU	c.141C>T (p.Asp47=)	ClinVar dbSNP gnomAD v4
17	g.42536415_42536417del	CA2637965802	NAGLU	c.143_145del (p.Phe48del)	gnomAD v4
17	g.42536414T>A	CA399595401	NAGLU	c.142T>A (p.Phe48Ile)
17	g.42536414T>C	CA115052	NAGLU	c.142T>C (p.Phe48Leu)	ClinVar dbSNP gnomAD v4
17	g.42536414T>G	CA399595404	NAGLU	c.142T>G (p.Phe48Val)
17	g.42536414T=	CA2260526733	NAGLU	c.142T= (p.Phe48=)
17	g.42536415T>A	CA399595405	NAGLU	c.143T>A (p.Phe48Tyr)
17	g.42536415T>C	CA399595406	NAGLU	c.143T>C (p.Phe48Ser)	dbSNP gnomAD v2 gnomAD v4
17	g.42536415T>G	CA290771264	NAGLU	c.143T>G (p.Phe48Cys)	dbSNP gnomAD v4
17	g.42536415T=	CA2260526734	NAGLU	c.143T= (p.Phe48=)
17	g.42536415_42536418delinsTCTC	CA2260526735	NAGLU	c.143_146delinsTCTC (p.Phe48=)
17	g.42536416C>A	CA290771267	NAGLU	c.144C>A (p.Phe48Leu)	ClinVar dbSNP gnomAD v4
17	g.42536416C=	CA2260526736	NAGLU	c.144C= (p.Phe48=)
17	g.42536416C>G	CA399595410	NAGLU	c.144C>G (p.Phe48Leu)	ClinVar dbSNP gnomAD v4
17	g.42536416C>T	CA500215951	NAGLU	c.144C>T (p.Phe48=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536417_42536419del	CA983827601	NAGLU	c.145_147del (p.Ser49del)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42536417T>A	CA399595414	NAGLU	c.145T>A (p.Ser49Thr)
17	g.42536417T>C	CA399595412	NAGLU	c.145T>C (p.Ser49Pro)	gnomAD v4
17	g.42536417T>G	CA290771270	NAGLU	c.145T>G (p.Ser49Ala)	dbSNP
17	g.42536417T=	CA2260526737	NAGLU	c.145T= (p.Ser49=)
17	g.42536418C>A	CA399595416	NAGLU	c.146C>A (p.Ser49Tyr)	gnomAD v4
17	g.42536418C=	CA2260526738	NAGLU	c.146C= (p.Ser49=)
17	g.42536418C>G	CA399595418	NAGLU	c.146C>G (p.Ser49Cys)	gnomAD v4
17	g.42536418C>T	CA290771275	NAGLU	c.146C>T (p.Ser49Phe)	ClinVar dbSNP gnomAD v4
17	g.42536419del	CA2580093754	NAGLU	c.147del (p.Val50CysfsTer?)	ClinVar
17	g.42536419C>A	CA500215957	NAGLU	c.147C>A (p.Ser49=)	gnomAD v4
17	g.42536419C=	CA2260526739	NAGLU	c.147C= (p.Ser49=)
17	g.42536419C>G	CA500215960	NAGLU	c.147C>G (p.Ser49=)	ClinVar dbSNP
17	g.42536419C>T	CA500215964	NAGLU	c.147C>T (p.Ser49=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42536420G>A	CA399595421	NAGLU	c.148G>A (p.Val50Met)	gnomAD v4
17	g.42536420G>C	CA399595423	NAGLU	c.148G>C (p.Val50Leu)	ClinVar gnomAD v4
17	g.42536420G>T	CA399595425	NAGLU	c.148G>T (p.Val50Leu)	gnomAD v4
17	g.42536421T>A	CA399595428	NAGLU	c.149T>A (p.Val50Glu)
17	g.42536421T>C	CA399595430	NAGLU	c.149T>C (p.Val50Ala)	gnomAD v4
17	g.42536421T>G	CA399595431	NAGLU	c.149T>G (p.Val50Gly)
17	g.42536422G>A	CA500215969	NAGLU	c.150G>A (p.Val50=)	gnomAD v4
17	g.42536422G>C	CA500215971	NAGLU	c.150G>C (p.Val50=)	dbSNP
17	g.42536422G=	CA2260526740	NAGLU	c.150G= (p.Val50=)
17	g.42536422G>T	CA500215970	NAGLU	c.150G>T (p.Val50=)	gnomAD v4
17	g.42536423T>A	CA399595434	NAGLU	c.151T>A (p.Ser51Thr)
17	g.42536423T>C	CA290771280	NAGLU	c.151T>C (p.Ser51Pro)	dbSNP gnomAD v4
17	g.42536423T>G	CA399595436	NAGLU	c.151T>G (p.Ser51Ala)
17	g.42536423T=	CA2260526741	NAGLU	c.151T= (p.Ser51=)
17	g.42536424C>A	CA399595439	NAGLU	c.152C>A (p.Ser51Ter)	gnomAD v4
17	g.42536424C=	CA2260526742	NAGLU	c.152C= (p.Ser51=)
17	g.42536424C>G	CA399595442	NAGLU	c.152C>G (p.Ser51Trp)
17	g.42536424C>T	CA399595440	NAGLU	c.152C>T (p.Ser51Leu)	dbSNP gnomAD v2 gnomAD v4
17	g.42536425G>A	CA500215982	NAGLU	c.153G>A (p.Ser51=)	gnomAD v4
17	g.42536425G>C	CA500215980	NAGLU	c.153G>C (p.Ser51=)	ClinVar dbSNP gnomAD v4
17	g.42536425G>T	CA500215981	NAGLU	c.153G>T (p.Ser51=)	ClinVar dbSNP gnomAD v4
17	g.42536426G>A	CA238574	NAGLU	c.154G>A (p.Val52Met)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42536426G>C	CA399595446	NAGLU	c.154G>C (p.Val52Leu)	gnomAD v4
17	g.42536426G=	CA2260526743	NAGLU	c.154G= (p.Val52=)
17	g.42536426G>T	CA399595445	NAGLU	c.154G>T (p.Val52Leu)	gnomAD v4
17	g.42536427T>A	CA399595449	NAGLU	c.155T>A (p.Val52Glu)	gnomAD v4
17	g.42536427T>C	CA399595451	NAGLU	c.155T>C (p.Val52Ala)	gnomAD v4
17	g.42536427T>G	CA399595452	NAGLU	c.155T>G (p.Val52Gly)
17	g.42536428G>A	CA500215987	NAGLU	c.156G>A (p.Val52=)	gnomAD v4
17	g.42536428G>C	CA500215988	NAGLU	c.156G>C (p.Val52=)	gnomAD v4
17	g.42536428G=	CA2260526744	NAGLU	c.156G= (p.Val52=)
17	g.42536428G>T	CA500215986	NAGLU	c.156G>T (p.Val52=)	dbSNP gnomAD v2 gnomAD v4
17	g.42536429G>A	CA399595454	NAGLU	c.157G>A (p.Glu53Lys)	gnomAD v4
17	g.42536429G>C	CA399595456	NAGLU	c.157G>C (p.Glu53Gln)	gnomAD v4
17	g.42536429G>T	CA399595458	NAGLU	c.157G>T (p.Glu53Ter)	gnomAD v4
17	g.42536430A>C	CA399595459	NAGLU	c.158A>C (p.Glu53Ala)	gnomAD v4
17	g.42536430A>G	CA399595461	NAGLU	c.158A>G (p.Glu53Gly)	gnomAD v4
17	g.42536430A>T	CA399595462	NAGLU	c.158A>T (p.Glu53Val)	gnomAD v4
17	g.42536431G>A	CA290771298	NAGLU	c.159G>A (p.Glu53=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536431G>C	CA399595464	NAGLU	c.159G>C (p.Glu53Asp)
17	g.42536431G=	CA2260526745	NAGLU	c.159G= (p.Glu53=)
17	g.42536431G>T	CA399595466	NAGLU	c.159G>T (p.Glu53Asp)	gnomAD v4
17	g.42536432C>A	CA399595472	NAGLU	c.160C>A (p.Arg54Ser)	gnomAD v4
17	g.42536432C>G	CA399595468	NAGLU	c.160C>G (p.Arg54Gly)	gnomAD v4
17	g.42536432C>T	CA399595471	NAGLU	c.160C>T (p.Arg54Cys)	gnomAD v4
17	g.42536433G>A	CA399595473	NAGLU	c.161G>A (p.Arg54His)	gnomAD v4
17	g.42536433G>C	CA399595475	NAGLU	c.161G>C (p.Arg54Pro)	gnomAD v4
17	g.42536433G>T	CA399595477	NAGLU	c.161G>T (p.Arg54Leu)	gnomAD v4
17	g.42536434C>A	CA500215997	NAGLU	c.162C>A (p.Arg54=)	gnomAD v4
17	g.42536434C>G	CA500215999	NAGLU	c.162C>G (p.Arg54=)	gnomAD v4
17	g.42536434C>T	CA500215998	NAGLU	c.162C>T (p.Arg54=)	gnomAD v4
17	g.42536435G>A	CA399595478	NAGLU	c.163G>A (p.Ala55Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536435G>C	CA399595480	NAGLU	c.163G>C (p.Ala55Pro)
17	g.42536435G=	CA2260526746	NAGLU	c.163G= (p.Ala55=)
17	g.42536435G>T	CA399595482	NAGLU	c.163G>T (p.Ala55Ser)	gnomAD v4
17	g.42536436C>A	CA399595484	NAGLU	c.164C>A (p.Ala55Asp)	gnomAD v4
17	g.42536436C=	CA2260526747	NAGLU	c.164C= (p.Ala55=)
17	g.42536436C>G	CA399595486	NAGLU	c.164C>G (p.Ala55Gly)	gnomAD v4
17	g.42536436C>T	CA399595488	NAGLU	c.164C>T (p.Ala55Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536437T>A	CA500216005	NAGLU	c.165T>A (p.Ala55=)
17	g.42536437T>C	CA500216004	NAGLU	c.165T>C (p.Ala55=)	ClinVar gnomAD v4
17	g.42536437T>G	CA500216006	NAGLU	c.165T>G (p.Ala55=)
17	g.42536438C>A	CA399595490	NAGLU	c.166C>A (p.Leu56Met)	gnomAD v4
17	g.42536438C>G	CA399595491	NAGLU	c.166C>G (p.Leu56Val)
17	g.42536438C>T	CA500216007	NAGLU	c.166C>T (p.Leu56=)	gnomAD v4
17	g.42536439T>A	CA399595495	NAGLU	c.167T>A (p.Leu56Gln)	gnomAD v4
17	g.42536439T>C	CA399595497	NAGLU	c.167T>C (p.Leu56Pro)	gnomAD v4
17	g.42536439T>G	CA399595494	NAGLU	c.167T>G (p.Leu56Arg)
17	g.42536440G>A	CA500216014	NAGLU	c.168G>A (p.Leu56=)	dbSNP gnomAD v3 gnomAD v4
17	g.42536440G>C	CA500216011	NAGLU	c.168G>C (p.Leu56=)	ClinVar dbSNP
17	g.42536440G=	CA2260526748	NAGLU	c.168G= (p.Leu56=)
17	g.42536440G>T	CA500216012	NAGLU	c.168G>T (p.Leu56=)	gnomAD v4
17	g.42536441del	CA2637965884	NAGLU	c.169del (p.Ala57LeufsTer?)	gnomAD v4
17	g.42536441G>A	CA399595500	NAGLU	c.169G>A (p.Ala57Thr)	gnomAD v4
17	g.42536441G>C	CA399595501	NAGLU	c.169G>C (p.Ala57Pro)
17	g.42536441G>T	CA399595503	NAGLU	c.169G>T (p.Ala57Ser)	gnomAD v4
17	g.42536442C>A	CA399595506	NAGLU	c.170C>A (p.Ala57Asp)	gnomAD v4
17	g.42536442C=	CA2260526749	NAGLU	c.170C= (p.Ala57=)
17	g.42536442C>G	CA10639696	NAGLU	c.170C>G (p.Ala57Gly)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536442C>T	CA399595508	NAGLU	c.170C>T (p.Ala57Val)	dbSNP gnomAD v4
17	g.42536443_42536446dup	CA2695226049	NAGLU	c.171_174dup (p.Lys59CysfsTer?)
17	g.42536443T>A	CA500216022	NAGLU	c.171T>A (p.Ala57=)	gnomAD v4
17	g.42536443T>C	CA500216021	NAGLU	c.171T>C (p.Ala57=)	gnomAD v4
17	g.42536443T>G	CA500216023	NAGLU	c.171T>G (p.Ala57=)
17	g.42536444G>A	CA290771313	NAGLU	c.172G>A (p.Ala58Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536444G>C	CA399595511	NAGLU	c.172G>C (p.Ala58Pro)	ClinVar dbSNP gnomAD v4
17	g.42536444G=	CA2260526750	NAGLU	c.172G= (p.Ala58=)
17	g.42536444G>T	CA399595513	NAGLU	c.172G>T (p.Ala58Ser)	gnomAD v4
17	g.42536445C>A	CA399595514	NAGLU	c.173C>A (p.Ala58Asp)	gnomAD v4
17	g.42536445C=	CA2260526751	NAGLU	c.173C= (p.Ala58=)
17	g.42536445C>G	CA399595516	NAGLU	c.173C>G (p.Ala58Gly)	gnomAD v4
17	g.42536445C>T	CA399595518	NAGLU	c.173C>T (p.Ala58Val)	dbSNP gnomAD v3 gnomAD v4
17	g.42536446del	CA2637965915	NAGLU	c.174del (p.Lys59SerfsTer?)	gnomAD v4
17	g.42536446C>A	CA500216029	NAGLU	c.174C>A (p.Ala58=)	gnomAD v4
17	g.42536446C>G	CA500216031	NAGLU	c.174C>G (p.Ala58=)
17	g.42536446C>T	CA500216030	NAGLU	c.174C>T (p.Ala58=)	gnomAD v4
17	g.42536447A>C	CA399595522	NAGLU	c.175A>C (p.Lys59Gln)
17	g.42536447A>G	CA399595524	NAGLU	c.175A>G (p.Lys59Glu)	gnomAD v4
17	g.42536447A>T	CA399595520	NAGLU	c.175A>T (p.Lys59Ter)
17	g.42536448A=	CA2260526752	NAGLU	c.176A= (p.Lys59=)
17	g.42536448A>C	CA399595527	NAGLU	c.176A>C (p.Lys59Thr)
17	g.42536448A>G	CA399595528	NAGLU	c.176A>G (p.Lys59Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536448A>T	CA399595529	NAGLU	c.176A>T (p.Lys59Met)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.42536449G>A	CA500216039	NAGLU	c.177G>A (p.Lys59=)	ClinVar dbSNP gnomAD v4
17	g.42536449G>C	CA399595531	NAGLU	c.177G>C (p.Lys59Asn)	gnomAD v4
17	g.42536449G=	CA2260526753	NAGLU	c.177G= (p.Lys59=)
17	g.42536449G>T	CA399595533	NAGLU	c.177G>T (p.Lys59Asn)	dbSNP gnomAD v4
17	g.42536450C>A	CA399595536	NAGLU	c.178C>A (p.Pro60Thr)	gnomAD v4
17	g.42536450C>G	CA399595535	NAGLU	c.178C>G (p.Pro60Ala)	gnomAD v4
17	g.42536450C>T	CA399595534	NAGLU	c.178C>T (p.Pro60Ser)	gnomAD v4
17	g.42536451del	CA2695226050	NAGLU	c.179del (p.Pro60ArgfsTer?)
17	g.42536451C>A	CA399595538	NAGLU	c.179C>A (p.Pro60Gln)	gnomAD v4
17	g.42536451C>G	CA399595539	NAGLU	c.179C>G (p.Pro60Arg)	gnomAD v4
17	g.42536451C>T	CA399595540	NAGLU	c.179C>T (p.Pro60Leu)	gnomAD v4
17	g.42536452G>A	CA500216051	NAGLU	c.180G>A (p.Pro60=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42536452G>C	CA500216052	NAGLU	c.180G>C (p.Pro60=)	ClinVar dbSNP gnomAD v4
17	g.42536452G=	CA2260526754	NAGLU	c.180G= (p.Pro60=)
17	g.42536452G>T	CA500216049	NAGLU	c.180G>T (p.Pro60=)	gnomAD v4
17	g.42536454del	CA2637965956	NAGLU	c.182del (p.Gly61AlafsTer?)	gnomAD v4
17	g.42536453G>A	CA399595542	NAGLU	c.181G>A (p.Gly61Ser)	dbSNP gnomAD v4
17	g.42536453G>C	CA399595544	NAGLU	c.181G>C (p.Gly61Arg)	gnomAD v4
17	g.42536453G=	CA2260526755	NAGLU	c.181G= (p.Gly61=)
17	g.42536453G>T	CA399595545	NAGLU	c.181G>T (p.Gly61Cys)	gnomAD v4
17	g.42536454G>A	CA399595547	NAGLU	c.182G>A (p.Gly61Asp)	gnomAD v4
17	g.42536454G>C	CA399595550	NAGLU	c.182G>C (p.Gly61Ala)
17	g.42536454G>T	CA399595549	NAGLU	c.182G>T (p.Gly61Val)	gnomAD v4
17	g.42536455C>A	CA500216059	NAGLU	c.183C>A (p.Gly61=)	ClinVar gnomAD v4
17	g.42536455C>G	CA500216055	NAGLU	c.183C>G (p.Gly61=)	ClinVar dbSNP gnomAD v4
17	g.42536455C>T	CA500216056	NAGLU	c.183C>T (p.Gly61=)	gnomAD v4
17	g.42536456T>A	CA399595553	NAGLU	c.184T>A (p.Leu62Met)	gnomAD v4
17	g.42536456T>C	CA500216060	NAGLU	c.184T>C (p.Leu62=)	ClinVar gnomAD v4
17	g.42536456T>G	CA399595554	NAGLU	c.184T>G (p.Leu62Val)
17	g.42536457T>A	CA399595556	NAGLU	c.185T>A (p.Leu62Ter)	gnomAD v4
17	g.42536457T>C	CA399595559	NAGLU	c.185T>C (p.Leu62Ser)	gnomAD v4
17	g.42536457T>G	CA399595558	NAGLU	c.185T>G (p.Leu62Trp)
17	g.42536458G>A	CA500216063	NAGLU	c.186G>A (p.Leu62=)	dbSNP gnomAD v3 gnomAD v4
17	g.42536458G>C	CA399595560	NAGLU	c.186G>C (p.Leu62Phe)
17	g.42536458G=	CA2260526756	NAGLU	c.186G= (p.Leu62=)
17	g.42536458G>T	CA399595561	NAGLU	c.186G>T (p.Leu62Phe)	gnomAD v4
17	g.42536459del	CA2637965986	NAGLU	c.187del (p.Asp63ThrfsTer?)	gnomAD v4
17	g.42536459G>A	CA399595563	NAGLU	c.187G>A (p.Asp63Asn)	gnomAD v4
17	g.42536459G>C	CA399595564	NAGLU	c.187G>C (p.Asp63His)	gnomAD v4
17	g.42536459G>T	CA399595566	NAGLU	c.187G>T (p.Asp63Tyr)	gnomAD v4
17	g.42536460A=	CA2260526757	NAGLU	c.188A= (p.Asp63=)
17	g.42536460A>C	CA399595568	NAGLU	c.188A>C (p.Asp63Ala)
17	g.42536460A>G	CA399595570	NAGLU	c.188A>G (p.Asp63Gly)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536460A>T	CA399595572	NAGLU	c.188A>T (p.Asp63Val)
17	g.42536461C>A	CA399595573	NAGLU	c.189C>A (p.Asp63Glu)	gnomAD v4
17	g.42536461C>G	CA399595574	NAGLU	c.189C>G (p.Asp63Glu)	gnomAD v4
17	g.42536461C>T	CA500216067	NAGLU	c.189C>T (p.Asp63=)	gnomAD v4
17	g.42536462del	CA2809524820	NAGLU	c.190del (p.Thr64ProfsTer?)
17	g.42536462A>C	CA399595580	NAGLU	c.190A>C (p.Thr64Pro)
17	g.42536462A>G	CA399595579	NAGLU	c.190A>G (p.Thr64Ala)	ClinVar gnomAD v4
17	g.42536462A>T	CA399595577	NAGLU	c.190A>T (p.Thr64Ser)	gnomAD v4
17	g.42536462_42536463delinsAC	CA2260526758	NAGLU	c.190_191delinsAC (p.Thr64=)
17	g.42536464_42536467del	CA2637965988	NAGLU	c.192_195del (p.Tyr65AlafsTer?)	gnomAD v4
17	g.42536463C>A	CA399595583	NAGLU	c.191C>A (p.Thr64Asn)	gnomAD v4
17	g.42536463C>G	CA399595584	NAGLU	c.191C>G (p.Thr64Ser)	gnomAD v4
17	g.42536463C>T	CA399595585	NAGLU	c.191C>T (p.Thr64Ile)	gnomAD v4
17	g.42536463_42536464insAGC	CA2637965995	NAGLU	c.191_192insAGC (p.Thr64_Tyr65insAla)	gnomAD v4
17	g.42536464del	CA2260526759	NAGLU	c.192del (p.Tyr65ThrfsTer?)	ClinVar dbSNP
17	g.42536464C>A	CA500216075	NAGLU	c.192C>A (p.Thr64=)	gnomAD v4
17	g.42536464C>G	CA500216077	NAGLU	c.192C>G (p.Thr64=)
17	g.42536464C>T	CA500216074	NAGLU	c.192C>T (p.Thr64=)	ClinVar gnomAD v4
17	g.42536464_42536465del	CA913012308	NAGLU	c.192_193del (p.Tyr65GlnfsTer?)
17	g.42536464_42536465delinsCT	CA2260526760	NAGLU	c.192_193delinsCT (p.Thr64=)
17	g.42536465del	CA658823941	NAGLU	c.193del (p.Tyr65ThrfsTer?)	ClinVar dbSNP
17	g.42536465T>A	CA399595586	NAGLU	c.193T>A (p.Tyr65Asn)	gnomAD v4
17	g.42536465T>C	CA399595588	NAGLU	c.193T>C (p.Tyr65His)	ClinVar dbSNP gnomAD v4
17	g.42536465T>G	CA399595590	NAGLU	c.193T>G (p.Tyr65Asp)
17	g.42536466A>C	CA399595592	NAGLU	c.194A>C (p.Tyr65Ser)
17	g.42536466A>G	CA399595594	NAGLU	c.194A>G (p.Tyr65Cys)	gnomAD v4
17	g.42536466A>T	CA399595596	NAGLU	c.194A>T (p.Tyr65Phe)	gnomAD v4
17	g.42536467_42536468del	CA2637966015	NAGLU	c.195_196del (p.Tyr65Ter)	gnomAD v4
17	g.42536467C>A	CA399595599	NAGLU	c.195C>A (p.Tyr65Ter)	gnomAD v4
17	g.42536467C>G	CA399595600	NAGLU	c.195C>G (p.Tyr65Ter)	gnomAD v4
17	g.42536467C>T	CA500216081	NAGLU	c.195C>T (p.Tyr65=)	gnomAD v4
17	g.42536468A>C	CA399595604	NAGLU	c.196A>C (p.Ser66Arg)
17	g.42536468A>G	CA399595606	NAGLU	c.196A>G (p.Ser66Gly)	gnomAD v4
17	g.42536468A>T	CA399595603	NAGLU	c.196A>T (p.Ser66Cys)	ClinVar
17	g.42536469G>A	CA399595609	NAGLU	c.197G>A (p.Ser66Asn)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.42536469G>C	CA399595610	NAGLU	c.197G>C (p.Ser66Thr)
17	g.42536469G=	CA2260526761	NAGLU	c.197G= (p.Ser66=)
17	g.42536469G>T	CA290771318	NAGLU	c.197G>T (p.Ser66Ile)	dbSNP gnomAD v3 gnomAD v4
17	g.42536470C>A	CA399595613	NAGLU	c.198C>A (p.Ser66Arg)	gnomAD v4
17	g.42536470C=	CA2260526762	NAGLU	c.198C= (p.Ser66=)
17	g.42536470C>G	CA399595615	NAGLU	c.198C>G (p.Ser66Arg)
17	g.42536470C>T	CA500216087	NAGLU	c.198C>T (p.Ser66=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536471C>A	CA399595617	NAGLU	c.199C>A (p.Leu67Met)	gnomAD v4
17	g.42536471C=	CA2260526763	NAGLU	c.199C= (p.Leu67=)
17	g.42536471C>G	CA399595618	NAGLU	c.199C>G (p.Leu67Val)
17	g.42536471C>T	CA290771328	NAGLU	c.199C>T (p.Leu67=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536471_42536472insCTG	CA626218535	NAGLU	c.199_200insCTG (p.Leu67delinsProVal)	dbSNP gnomAD v2
17	g.42536472T>A	CA399595620	NAGLU	c.200T>A (p.Leu67Gln)	gnomAD v4
17	g.42536472T>C	CA399595622	NAGLU	c.200T>C (p.Leu67Pro)	dbSNP gnomAD v2 gnomAD v4
17	g.42536472T>G	CA399595624	NAGLU	c.200T>G (p.Leu67Arg)	ClinVar gnomAD v4
17	g.42536472T=	CA2260526764	NAGLU	c.200T= (p.Leu67=)
17	g.42536473G>A	CA500216094	NAGLU	c.201G>A (p.Leu67=)	ClinVar dbSNP gnomAD v4
17	g.42536473G>C	CA500216091	NAGLU	c.201G>C (p.Leu67=)
17	g.42536473G=	CA2260526766	NAGLU	c.201G= (p.Leu67=)
17	g.42536473G>T	CA500216092	NAGLU	c.201G>T (p.Leu67=)	gnomAD v4
17	g.42536475dup	CA913012309	NAGLU	c.203dup (p.Gly69ArgfsTer?)
17	g.42536473_42536475dup	CA2637966056	NAGLU	c.201_203dup (p.Gly68_Gly69insGly)	gnomAD v4
17	g.42536475del	CA2637966057	NAGLU	c.203del (p.Gly68AlafsTer?)	gnomAD v4
17	g.42536473_42536476delinsGGGC	CA2260526765	NAGLU	c.201_204delinsGGGC (p.Leu67=)
17	g.42536474G>A	CA399595626	NAGLU	c.202G>A (p.Gly68Ser)	ClinVar gnomAD v4
17	g.42536474G>C	CA399595628	NAGLU	c.202G>C (p.Gly68Arg)	gnomAD v4
17	g.42536474G=	CA2260526767	NAGLU	c.202G= (p.Gly68=)
17	g.42536474G>T	CA399595630	NAGLU	c.202G>T (p.Gly68Cys)	gnomAD v4
17	g.42536474_42536475insCCG	CA658823942	NAGLU	c.202_203insCCG (p.Leu67_Gly68insAla)	ClinVar dbSNP gnomAD v3 gnomAD v4
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.42536475G>A	CA290771335	NAGLU	c.203G>A (p.Gly68Asp)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42536475G>C	CA399595634	NAGLU	c.203G>C (p.Gly68Ala)	gnomAD v4
17	g.42536475G=	CA2260526768	NAGLU	c.203G= (p.Gly68=)
17	g.42536475G>T	CA399595632	NAGLU	c.203G>T (p.Gly68Val)	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

Number of alleles fetched