Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.42536415_42536417del	CA2637965802	NAGLU	c.143_145del (p.Phe48del)	gnomAD v4
17	g.42536415_42536418delinsTCTC	CA2260526735	NAGLU	c.143_146delinsTCTC (p.Phe48=)
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
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

Number of alleles fetched