Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.42544017_42544019del	CA626218624	NAGLU	c.2011_2013del (p.Tyr671del) c.1349_1351del (n.1349_1351del) c.1180_1182del (p.Tyr394del) c.1012_1014del (p.Tyr338del) c.2068_2070del (p.Tyr690del)	gnomAD v2
17	g.42544013C>A	CA399605834	NAGLU	c.2007C>A (p.Asn669Lys) c.1345C>A (n.1345C>A) c.1176C>A (p.Asn392Lys) c.1008C>A (p.Asn336Lys) c.2064C>A (p.Asn688Lys)
17	g.42544013C>G	CA399605833	NAGLU	c.2007C>G (p.Asn669Lys) c.1345C>G (n.1345C>G) c.1176C>G (p.Asn392Lys) c.1008C>G (p.Asn336Lys) c.2064C>G (p.Asn688Lys)	gnomAD v4
17	g.42544013C>T	CA500217140	NAGLU	c.2007C>T (p.Asn669=) c.1345C>T (n.1345C>T) c.1176C>T (p.Asn392=) c.1008C>T (p.Asn336=) c.2064C>T (p.Asn688=)	gnomAD v4
17	g.42544014T>A	CA399605836	NAGLU	c.2008T>A (p.Tyr670Asn) c.1346T>A (n.1346T>A) c.1177T>A (p.Tyr393Asn) c.1009T>A (p.Tyr337Asn) c.2065T>A (p.Tyr689Asn)
17	g.42544014T>C	CA399605838	NAGLU	c.2008T>C (p.Tyr670His) c.1346T>C (n.1346T>C) c.1177T>C (p.Tyr393His) c.1009T>C (p.Tyr337His) c.2065T>C (p.Tyr689His)
17	g.42544014T>G	CA399605840	NAGLU	c.2008T>G (p.Tyr670Asp) c.1346T>G (n.1346T>G) c.1177T>G (p.Tyr393Asp) c.1009T>G (p.Tyr337Asp) c.2065T>G (p.Tyr689Asp)
17	g.42544015A=	CA2260530571	NAGLU	c.2009A= (p.Tyr670=) c.1347A= (n.1347A=) c.1178A= (p.Tyr393=) c.1010A= (p.Tyr337=) c.2066A= (p.Tyr689=)
17	g.42544015A>C	CA399605842	NAGLU	c.2009A>C (p.Tyr670Ser) c.1347A>C (n.1347A>C) c.1178A>C (p.Tyr393Ser) c.1010A>C (p.Tyr337Ser) c.2066A>C (p.Tyr689Ser)	dbSNP gnomAD v4
17	g.42544015A>G	CA399605844	NAGLU	c.2009A>G (p.Tyr670Cys) c.1347A>G (n.1347A>G) c.1178A>G (p.Tyr393Cys) c.1010A>G (p.Tyr337Cys) c.2066A>G (p.Tyr689Cys)	gnomAD v4 COSMIC
17	g.42544015A>T	CA399605846	NAGLU	c.2009A>T (p.Tyr670Phe) c.1347A>T (n.1347A>T) c.1178A>T (p.Tyr393Phe) c.1010A>T (p.Tyr337Phe) c.2066A>T (p.Tyr689Phe)
17	g.42544016C>A	CA399605847	NAGLU	c.2010C>A (p.Tyr670Ter) c.1348C>A (n.1348C>A) c.1179C>A (p.Tyr393Ter) c.1011C>A (p.Tyr337Ter) c.2067C>A (p.Tyr689Ter)
17	g.42544016C=	CA2260530572	NAGLU	c.2010C= (p.Tyr670=) c.1348C= (n.1348C=) c.1179C= (p.Tyr393=) c.1011C= (p.Tyr337=) c.2067C= (p.Tyr689=)
17	g.42544016C>G	CA399605849	NAGLU	c.2010C>G (p.Tyr670Ter) c.1348C>G (n.1348C>G) c.1179C>G (p.Tyr393Ter) c.1011C>G (p.Tyr337Ter) c.2067C>G (p.Tyr689Ter)
17	g.42544016C>T	CA500217143	NAGLU	c.2010C>T (p.Tyr670=) c.1348C>T (n.1348C>T) c.1179C>T (p.Tyr393=) c.1011C>T (p.Tyr337=) c.2067C>T (p.Tyr689=)	ClinVar dbSNP gnomAD v4
17	g.42544017T>A	CA399605852	NAGLU	c.2011T>A (p.Tyr671Asn) c.1349T>A (n.1349T>A) c.1180T>A (p.Tyr394Asn) c.1012T>A (p.Tyr338Asn) c.2068T>A (p.Tyr690Asn)
17	g.42544017T>C	CA399605853	NAGLU	c.2011T>C (p.Tyr671His) c.1349T>C (n.1349T>C) c.1180T>C (p.Tyr394His) c.1012T>C (p.Tyr338His) c.2068T>C (p.Tyr690His)	gnomAD v4
17	g.42544017T>G	CA399605855	NAGLU	c.2011T>G (p.Tyr671Asp) c.1349T>G (n.1349T>G) c.1180T>G (p.Tyr394Asp) c.1012T>G (p.Tyr338Asp) c.2068T>G (p.Tyr690Asp)	gnomAD v4
17	g.42544018A>C	CA399605857	NAGLU	c.2012A>C (p.Tyr671Ser) c.1350A>C (n.1350A>C) c.1181A>C (p.Tyr394Ser) c.1013A>C (p.Tyr338Ser) c.2069A>C (p.Tyr690Ser)
17	g.42544018A>G	CA399605859	NAGLU	c.2012A>G (p.Tyr671Cys) c.1350A>G (n.1350A>G) c.1181A>G (p.Tyr394Cys) c.1013A>G (p.Tyr338Cys) c.2069A>G (p.Tyr690Cys)
17	g.42544018A>T	CA399605860	NAGLU	c.2012A>T (p.Tyr671Phe) c.1350A>T (n.1350A>T) c.1181A>T (p.Tyr394Phe) c.1013A>T (p.Tyr338Phe) c.2069A>T (p.Tyr690Phe)
17	g.42544019C>A	CA399605862	NAGLU	c.2013C>A (p.Tyr671Ter) c.1351C>A (n.1351C>A) c.1182C>A (p.Tyr394Ter) c.1014C>A (p.Tyr338Ter) c.2070C>A (p.Tyr690Ter)
17	g.42544019C=	CA2260530573	NAGLU	c.2013C= (p.Tyr671=) c.1351C= (n.1351C=) c.1182C= (p.Tyr394=) c.1014C= (p.Tyr338=) c.2070C= (p.Tyr690=)
17	g.42544019C>G	CA399605864	NAGLU	c.2013C>G (p.Tyr671Ter) c.1351C>G (n.1351C>G) c.1182C>G (p.Tyr394Ter) c.1014C>G (p.Tyr338Ter) c.2070C>G (p.Tyr690Ter)	dbSNP gnomAD v2
17	g.42544019C>T	CA290781171	NAGLU	c.2013C>T (p.Tyr671=) c.1351C>T (n.1351C>T) c.1182C>T (p.Tyr394=) c.1014C>T (p.Tyr338=) c.2070C>T (p.Tyr690=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.42544020A>C	CA399605866	NAGLU	c.2014A>C (p.Thr672Pro) c.1352A>C (n.1352A>C) c.1183A>C (p.Thr395Pro) c.1015A>C (p.Thr339Pro) c.2071A>C (p.Thr691Pro)	gnomAD v4
17	g.42544020A>G	CA399605868	NAGLU	c.2014A>G (p.Thr672Ala) c.1352A>G (n.1352A>G) c.1183A>G (p.Thr395Ala) c.1015A>G (p.Thr339Ala) c.2071A>G (p.Thr691Ala)
17	g.42544020A>T	CA399605870	NAGLU	c.2014A>T (p.Thr672Ser) c.1352A>T (n.1352A>T) c.1183A>T (p.Thr395Ser) c.1015A>T (p.Thr339Ser) c.2071A>T (p.Thr691Ser)
17	g.42544021C>A	CA399605872	NAGLU	c.2015C>A (p.Thr672Asn) c.1353C>A (n.1353C>A) c.1184C>A (p.Thr395Asn) c.1016C>A (p.Thr339Asn) c.2072C>A (p.Thr691Asn)	dbSNP
17	g.42544021C=	CA2260530574	NAGLU	c.2015C= (p.Thr672=) c.1353C= (n.1353C=) c.1184C= (p.Thr395=) c.1016C= (p.Thr339=) c.2072C= (p.Thr691=)
17	g.42544021C>G	CA399605874	NAGLU	c.2015C>G (p.Thr672Ser) c.1353C>G (n.1353C>G) c.1184C>G (p.Thr395Ser) c.1016C>G (p.Thr339Ser) c.2072C>G (p.Thr691Ser)	dbSNP
17	g.42544021C>T	CA399605875	NAGLU	c.2015C>T (p.Thr672Ile) c.1353C>T (n.1353C>T) c.1184C>T (p.Thr395Ile) c.1016C>T (p.Thr339Ile) c.2072C>T (p.Thr691Ile)	ClinVar dbSNP gnomAD v4
17	g.42544022C>A	CA500217154	NAGLU	c.2016C>A (p.Thr672=) c.1354C>A (n.1354C>A) c.1185C>A (p.Thr395=) c.1017C>A (p.Thr339=) c.2073C>A (p.Thr691=)
17	g.42544022C=	CA2260530575	NAGLU	c.2016C= (p.Thr672=) c.1354C= (n.1354C=) c.1185C= (p.Thr395=) c.1017C= (p.Thr339=) c.2073C= (p.Thr691=)
17	g.42544022C>G	CA500217157	NAGLU	c.2016C>G (p.Thr672=) c.1354C>G (n.1354C>G) c.1185C>G (p.Thr395=) c.1017C>G (p.Thr339=) c.2073C>G (p.Thr691=)
17	g.42544022C>T	CA500217153	NAGLU	c.2016C>T (p.Thr672=) c.1354C>T (n.1354C>T) c.1185C>T (p.Thr395=) c.1017C>T (p.Thr339=) c.2073C>T (p.Thr691=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42544023C>A	CA399605877	NAGLU	c.2017C>A (p.Pro673Thr) c.1355C>A (n.1355C>A) c.1186C>A (p.Pro396Thr) c.1018C>A (p.Pro340Thr) c.2074C>A (p.Pro692Thr)
17	g.42544023C=	CA2260530576	NAGLU	c.2017C= (p.Pro673=) c.1355C= (n.1355C=) c.1186C= (p.Pro396=) c.1018C= (p.Pro340=) c.2074C= (p.Pro692=)
17	g.42544023C>G	CA399605879	NAGLU	c.2017C>G (p.Pro673Ala) c.1355C>G (n.1355C>G) c.1186C>G (p.Pro396Ala) c.1018C>G (p.Pro340Ala) c.2074C>G (p.Pro692Ala)
17	g.42544023C>T	CA8577129	NAGLU	c.2017C>T (p.Pro673Ser) c.1355C>T (n.1355C>T) c.1186C>T (p.Pro396Ser) c.1018C>T (p.Pro340Ser) c.2074C>T (p.Pro692Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.42544024C>A	CA399605882	NAGLU	c.2018C>A (p.Pro673His) c.1356C>A (n.1356C>A) c.1187C>A (p.Pro396His) c.1019C>A (p.Pro340His) c.2075C>A (p.Pro692His)
17	g.42544024C>G	CA399605884	NAGLU	c.2018C>G (p.Pro673Arg) c.1356C>G (n.1356C>G) c.1187C>G (p.Pro396Arg) c.1019C>G (p.Pro340Arg) c.2075C>G (p.Pro692Arg)
17	g.42544024C>T	CA399605885	NAGLU	c.2018C>T (p.Pro673Leu) c.1356C>T (n.1356C>T) c.1187C>T (p.Pro396Leu) c.1019C>T (p.Pro340Leu) c.2075C>T (p.Pro692Leu)
17	g.42544025T>A	CA500217162	NAGLU	c.2019T>A (p.Pro673=) c.1357T>A (n.1357T>A) c.1188T>A (p.Pro396=) c.1020T>A (p.Pro340=) c.2076T>A (p.Pro692=)
17	g.42544025T>C	CA500217160	NAGLU	c.2019T>C (p.Pro673=) c.1357T>C (n.1357T>C) c.1188T>C (p.Pro396=) c.1020T>C (p.Pro340=) c.2076T>C (p.Pro692=)
17	g.42544025T>G	CA500217161	NAGLU	c.2019T>G (p.Pro673=) c.1357T>G (n.1357T>G) c.1188T>G (p.Pro396=) c.1020T>G (p.Pro340=) c.2076T>G (p.Pro692=)
17	g.42544026C>A	CA399605890	NAGLU	c.2020C>A (p.Arg674Ser) c.1358C>A (n.1358C>A) c.1189C>A (p.Arg397Ser) c.1021C>A (p.Arg341Ser) c.2077C>A (p.Arg693Ser)
17	g.42544026C=	CA2260530577	NAGLU	c.2020C= (p.Arg674=) c.1358C= (n.1358C=) c.1189C= (p.Arg397=) c.1021C= (p.Arg341=) c.2077C= (p.Arg693=)
17	g.42544026C>G	CA399605888	NAGLU	c.2020C>G (p.Arg674Gly) c.1358C>G (n.1358C>G) c.1189C>G (p.Arg397Gly) c.1021C>G (p.Arg341Gly) c.2077C>G (p.Arg693Gly)
17	g.42544026C>T	CA8577130	NAGLU	c.2020C>T (p.Arg674Cys) c.1358C>T (n.1358C>T) c.1189C>T (p.Arg397Cys) c.1021C>T (p.Arg341Cys) c.2077C>T (p.Arg693Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42544027G>A	CA115042	NAGLU	c.2021G>A (p.Arg674His) c.1359G>A (n.1359G>A) c.1190G>A (p.Arg397His) c.1022G>A (p.Arg341His) c.2078G>A (p.Arg693His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.42544027G>C	CA399605895	NAGLU	c.2021G>C (p.Arg674Pro) c.1359G>C (n.1359G>C) c.1190G>C (p.Arg397Pro) c.1022G>C (p.Arg341Pro) c.2078G>C (p.Arg693Pro)
17	g.42544027G=	CA2260530578	NAGLU	c.2021G= (p.Arg674=) c.1359G= (n.1359G=) c.1190G= (p.Arg397=) c.1022G= (p.Arg341=) c.2078G= (p.Arg693=)
17	g.42544027G>T	CA399605893	NAGLU	c.2021G>T (p.Arg674Leu) c.1359G>T (n.1359G>T) c.1190G>T (p.Arg397Leu) c.1022G>T (p.Arg341Leu) c.2078G>T (p.Arg693Leu)	ClinVar dbSNP
17	g.42544028C>A	CA500217165	NAGLU	c.2022C>A (p.Arg674=) c.1360C>A (n.1360C>A) c.1191C>A (p.Arg397=) c.1023C>A (p.Arg341=) c.2079C>A (p.Arg693=)
17	g.42544028C>G	CA500217166	NAGLU	c.2022C>G (p.Arg674=) c.1360C>G (n.1360C>G) c.1191C>G (p.Arg397=) c.1023C>G (p.Arg341=) c.2079C>G (p.Arg693=)
17	g.42544028C>T	CA500217167	NAGLU	c.2022C>T (p.Arg674=) c.1360C>T (n.1360C>T) c.1191C>T (p.Arg397=) c.1023C>T (p.Arg341=) c.2079C>T (p.Arg693=)	ClinVar dbSNP gnomAD v4
17	g.42544029T>A	CA399605897	NAGLU	c.2023T>A (p.Trp675Arg) c.1361T>A (n.1361T>A) c.1192T>A (p.Trp398Arg) c.1024T>A (p.Trp342Arg) c.2080T>A (p.Trp694Arg)
17	g.42544029T>C	CA399605901	NAGLU	c.2023T>C (p.Trp675Arg) c.1361T>C (n.1361T>C) c.1192T>C (p.Trp398Arg) c.1024T>C (p.Trp342Arg) c.2080T>C (p.Trp694Arg)	dbSNP gnomAD v4
17	g.42544029T>G	CA399605898	NAGLU	c.2023T>G (p.Trp675Gly) c.1361T>G (n.1361T>G) c.1192T>G (p.Trp398Gly) c.1024T>G (p.Trp342Gly) c.2080T>G (p.Trp694Gly)
17	g.42544029T=	CA2260530579	NAGLU	c.2023T= (p.Trp675=) c.1361T= (n.1361T=) c.1192T= (p.Trp398=) c.1024T= (p.Trp342=) c.2080T= (p.Trp694=)
17	g.42544030G>A	CA399605903	NAGLU	c.2024G>A (p.Trp675Ter) c.1362G>A (n.1362G>A) c.1193G>A (p.Trp398Ter) c.1025G>A (p.Trp342Ter) c.2081G>A (p.Trp694Ter)	dbSNP gnomAD v2
17	g.42544030G>C	CA399605905	NAGLU	c.2024G>C (p.Trp675Ser) c.1362G>C (n.1362G>C) c.1193G>C (p.Trp398Ser) c.1025G>C (p.Trp342Ser) c.2081G>C (p.Trp694Ser)
17	g.42544030G=	CA2260530580	NAGLU	c.2024G= (p.Trp675=) c.1362G= (n.1362G=) c.1193G= (p.Trp398=) c.1025G= (p.Trp342=) c.2081G= (p.Trp694=)
17	g.42544030G>T	CA399605907	NAGLU	c.2024G>T (p.Trp675Leu) c.1362G>T (n.1362G>T) c.1193G>T (p.Trp398Leu) c.1025G>T (p.Trp342Leu) c.2081G>T (p.Trp694Leu)
17	g.42544031G>A	CA399605909	NAGLU	c.2025G>A (p.Trp675Ter) c.1363G>A (n.1363G>A) c.1194G>A (p.Trp398Ter) c.1026G>A (p.Trp342Ter) c.2082G>A (p.Trp694Ter)
17	g.42544031G>C	CA399605910	NAGLU	c.2025G>C (p.Trp675Cys) c.1363G>C (n.1363G>C) c.1194G>C (p.Trp398Cys) c.1026G>C (p.Trp342Cys) c.2082G>C (p.Trp694Cys)
17	g.42544031G>T	CA399605912	NAGLU	c.2025G>T (p.Trp675Cys) c.1363G>T (n.1363G>T) c.1194G>T (p.Trp398Cys) c.1026G>T (p.Trp342Cys) c.2082G>T (p.Trp694Cys)
17	g.42544032C>A	CA500217172	NAGLU	c.2026C>A (p.Arg676=) c.1364C>A (n.1364C>A) c.1195C>A (p.Arg399=) c.1027C>A (p.Arg343=) c.2083C>A (p.Arg695=)
17	g.42544032C=	CA2260530581	NAGLU	c.2026C= (p.Arg676=) c.1364C= (n.1364C=) c.1195C= (p.Arg399=) c.1027C= (p.Arg343=) c.2083C= (p.Arg695=)
17	g.42544032C>G	CA399605914	NAGLU	c.2026C>G (p.Arg676Gly) c.1364C>G (n.1364C>G) c.1195C>G (p.Arg399Gly) c.1027C>G (p.Arg343Gly) c.2083C>G (p.Arg695Gly)
17	g.42544032C>T	CA8577131	NAGLU	c.2026C>T (p.Arg676Trp) c.1364C>T (n.1364C>T) c.1195C>T (p.Arg399Trp) c.1027C>T (p.Arg343Trp) c.2083C>T (p.Arg695Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42544033G>A	CA399605918	NAGLU	c.2027G>A (p.Arg676Gln) c.1365G>A (n.1365G>A) c.1196G>A (p.Arg399Gln) c.1028G>A (p.Arg343Gln) c.2084G>A (p.Arg695Gln)	dbSNP gnomAD v3 gnomAD v4
17	g.42544033G>C	CA399605919	NAGLU	c.2027G>C (p.Arg676Pro) c.1365G>C (n.1365G>C) c.1196G>C (p.Arg399Pro) c.1028G>C (p.Arg343Pro) c.2084G>C (p.Arg695Pro)	gnomAD v4
17	g.42544033G=	CA2260530582	NAGLU	c.2027G= (p.Arg676=) c.1365G= (n.1365G=) c.1196G= (p.Arg399=) c.1028G= (p.Arg343=) c.2084G= (p.Arg695=)
17	g.42544033G>T	CA399605921	NAGLU	c.2027G>T (p.Arg676Leu) c.1365G>T (n.1365G>T) c.1196G>T (p.Arg399Leu) c.1028G>T (p.Arg343Leu) c.2084G>T (p.Arg695Leu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42544034G>A	CA500217177	NAGLU	c.2028G>A (p.Arg676=) c.1366G>A (n.1366G>A) c.1197G>A (p.Arg399=) c.1029G>A (p.Arg343=) c.2085G>A (p.Arg695=)	gnomAD v4
17	g.42544034G>C	CA500217178	NAGLU	c.2028G>C (p.Arg676=) c.1366G>C (n.1366G>C) c.1197G>C (p.Arg399=) c.1029G>C (p.Arg343=) c.2085G>C (p.Arg695=)
17	g.42544034G>T	CA500217174	NAGLU	c.2028G>T (p.Arg676=) c.1366G>T (n.1366G>T) c.1197G>T (p.Arg399=) c.1029G>T (p.Arg343=) c.2085G>T (p.Arg695=)
17	g.42544035C>A	CA399605925	NAGLU	c.2029C>A (p.Leu677Ile) c.1367C>A (n.1367C>A) c.1198C>A (p.Leu400Ile) c.1030C>A (p.Leu344Ile) c.2086C>A (p.Leu696Ile)	dbSNP gnomAD v2
17	g.42544035C=	CA2260530583	NAGLU	c.2029C= (p.Leu677=) c.1367C= (n.1367C=) c.1198C= (p.Leu400=) c.1030C= (p.Leu344=) c.2086C= (p.Leu696=)
17	g.42544035C>G	CA399605923	NAGLU	c.2029C>G (p.Leu677Val) c.1367C>G (n.1367C>G) c.1198C>G (p.Leu400Val) c.1030C>G (p.Leu344Val) c.2086C>G (p.Leu696Val)
17	g.42544035C>T	CA399605924	NAGLU	c.2029C>T (p.Leu677Phe) c.1367C>T (n.1367C>T) c.1198C>T (p.Leu400Phe) c.1030C>T (p.Leu344Phe) c.2086C>T (p.Leu696Phe)
17	g.42544036T>A	CA399605927	NAGLU	c.2030T>A (p.Leu677His) c.1368T>A (n.1368T>A) c.1199T>A (p.Leu400His) c.1031T>A (p.Leu344His) c.2087T>A (p.Leu696His)
17	g.42544036T>C	CA399605929	NAGLU	c.2030T>C (p.Leu677Pro) c.1368T>C (n.1368T>C) c.1199T>C (p.Leu400Pro) c.1031T>C (p.Leu344Pro) c.2087T>C (p.Leu696Pro)
17	g.42544036T>G	CA399605930	NAGLU	c.2030T>G (p.Leu677Arg) c.1368T>G (n.1368T>G) c.1199T>G (p.Leu400Arg) c.1031T>G (p.Leu344Arg) c.2087T>G (p.Leu696Arg)
17	g.42544039del	CA2637976282	NAGLU	c.2033del (p.Phe678SerfsTer?) c.1371del (n.1371del) c.1202del (p.Phe401SerfsTer?) c.1034del (p.Phe345SerfsTer?) c.2090del (p.Phe697SerfsTer?)	gnomAD v4
17	g.42544037T>A	CA500217179	NAGLU	c.2031T>A (p.Leu677=) c.1369T>A (n.1369T>A) c.1200T>A (p.Leu400=) c.1032T>A (p.Leu344=) c.2088T>A (p.Leu696=)
17	g.42544037T>C	CA500217180	NAGLU	c.2031T>C (p.Leu677=) c.1369T>C (n.1369T>C) c.1200T>C (p.Leu400=) c.1032T>C (p.Leu344=) c.2088T>C (p.Leu696=)
17	g.42544037T>G	CA500217181	NAGLU	c.2031T>G (p.Leu677=) c.1369T>G (n.1369T>G) c.1200T>G (p.Leu400=) c.1032T>G (p.Leu344=) c.2088T>G (p.Leu696=)
17	g.42544038T>A	CA399605932	NAGLU	c.2032T>A (p.Phe678Ile) c.1370T>A (n.1370T>A) c.1201T>A (p.Phe401Ile) c.1033T>A (p.Phe345Ile) c.2089T>A (p.Phe697Ile)
17	g.42544038T>C	CA399605933	NAGLU	c.2032T>C (p.Phe678Leu) c.1370T>C (n.1370T>C) c.1201T>C (p.Phe401Leu) c.1033T>C (p.Phe345Leu) c.2089T>C (p.Phe697Leu)	ClinVar dbSNP
17	g.42544038T>G	CA399605934	NAGLU	c.2032T>G (p.Phe678Val) c.1370T>G (n.1370T>G) c.1201T>G (p.Phe401Val) c.1033T>G (p.Phe345Val) c.2089T>G (p.Phe697Val)
17	g.42544039T>A	CA399605936	NAGLU	c.2033T>A (p.Phe678Tyr) c.1371T>A (n.1371T>A) c.1202T>A (p.Phe401Tyr) c.1034T>A (p.Phe345Tyr) c.2090T>A (p.Phe697Tyr)
17	g.42544039T>C	CA399605937	NAGLU	c.2033T>C (p.Phe678Ser) c.1371T>C (n.1371T>C) c.1202T>C (p.Phe401Ser) c.1034T>C (p.Phe345Ser) c.2090T>C (p.Phe697Ser)
17	g.42544039T>G	CA399605938	NAGLU	c.2033T>G (p.Phe678Cys) c.1371T>G (n.1371T>G) c.1202T>G (p.Phe401Cys) c.1034T>G (p.Phe345Cys) c.2090T>G (p.Phe697Cys)
17	g.42544040C>A	CA399605940	NAGLU	c.2034C>A (p.Phe678Leu) c.1372C>A (n.1372C>A) c.1203C>A (p.Phe401Leu) c.1035C>A (p.Phe345Leu) c.2091C>A (p.Phe697Leu)
17	g.42544040C>G	CA399605942	NAGLU	c.2034C>G (p.Phe678Leu) c.1372C>G (n.1372C>G) c.1203C>G (p.Phe401Leu) c.1035C>G (p.Phe345Leu) c.2091C>G (p.Phe697Leu)
17	g.42544040C>T	CA500217187	NAGLU	c.2034C>T (p.Phe678=) c.1372C>T (n.1372C>T) c.1203C>T (p.Phe401=) c.1035C>T (p.Phe345=) c.2091C>T (p.Phe697=)
17	g.42544041C>A	CA399605947	NAGLU	c.2035C>A (p.Leu679Met) c.1373C>A (n.1373C>A) c.1204C>A (p.Leu402Met) c.1036C>A (p.Leu346Met) c.2092C>A (p.Leu698Met)
17	g.42544041C>G	CA399605946	NAGLU	c.2035C>G (p.Leu679Val) c.1373C>G (n.1373C>G) c.1204C>G (p.Leu402Val) c.1036C>G (p.Leu346Val) c.2092C>G (p.Leu698Val)
17	g.42544041C>T	CA500217191	NAGLU	c.2035C>T (p.Leu679=) c.1373C>T (n.1373C>T) c.1204C>T (p.Leu402=) c.1036C>T (p.Leu346=) c.2092C>T (p.Leu698=)	gnomAD v4 COSMIC
17	g.42544042T>A	CA399605950	NAGLU	c.2036T>A (p.Leu679Gln) c.1374T>A (n.1374T>A) c.1205T>A (p.Leu402Gln) c.1037T>A (p.Leu346Gln) c.2093T>A (p.Leu698Gln)
17	g.42544042T>C	CA399605952	NAGLU	c.2036T>C (p.Leu679Pro) c.1374T>C (n.1374T>C) c.1205T>C (p.Leu402Pro) c.1037T>C (p.Leu346Pro) c.2093T>C (p.Leu698Pro)
17	g.42544042T>G	CA399605953	NAGLU	c.2036T>G (p.Leu679Arg) c.1374T>G (n.1374T>G) c.1205T>G (p.Leu402Arg) c.1037T>G (p.Leu346Arg) c.2093T>G (p.Leu698Arg)
17	g.42544044_42544056del	CA2580093763	NAGLU	c.2038_2050del (p.Glu680ThrfsTer?) c.1376_1388del (n.1376_1388del) c.1207_1219del (p.Glu403ThrfsTer?) c.1039_1051del (p.Glu347ThrfsTer?) c.2095_2107del (p.Glu699ThrfsTer?)	ClinVar
17	g.42544043G>A	CA500217197	NAGLU	c.2037G>A (p.Leu679=) c.1375G>A (n.1375G>A) c.1206G>A (p.Leu402=) c.1038G>A (p.Leu346=) c.2094G>A (p.Leu698=)	dbSNP gnomAD v2
17	g.42544043G>C	CA500217195	NAGLU	c.2037G>C (p.Leu679=) c.1375G>C (n.1375G>C) c.1206G>C (p.Leu402=) c.1038G>C (p.Leu346=) c.2094G>C (p.Leu698=)
17	g.42544043G=	CA2260530584	NAGLU	c.2037G= (p.Leu679=) c.1375G= (n.1375G=) c.1206G= (p.Leu402=) c.1038G= (p.Leu346=) c.2094G= (p.Leu698=)
17	g.42544043G>T	CA500217196	NAGLU	c.2037G>T (p.Leu679=) c.1375G>T (n.1375G>T) c.1206G>T (p.Leu402=) c.1038G>T (p.Leu346=) c.2094G>T (p.Leu698=)
17	g.42544044G>A	CA399605956	NAGLU	c.2038G>A (p.Glu680Lys) c.1376G>A (n.1376G>A) c.1207G>A (p.Glu403Lys) c.1039G>A (p.Glu347Lys) c.2095G>A (p.Glu699Lys)
17	g.42544044G>C	CA399605958	NAGLU	c.2038G>C (p.Glu680Gln) c.1376G>C (n.1376G>C) c.1207G>C (p.Glu403Gln) c.1039G>C (p.Glu347Gln) c.2095G>C (p.Glu699Gln)
17	g.42544044G>T	CA399605959	NAGLU	c.2038G>T (p.Glu680Ter) c.1376G>T (n.1376G>T) c.1207G>T (p.Glu403Ter) c.1039G>T (p.Glu347Ter) c.2095G>T (p.Glu699Ter)
17	g.42544045A>C	CA399605964	NAGLU	c.2039A>C (p.Glu680Ala) c.1377A>C (n.1377A>C) c.1208A>C (p.Glu403Ala) c.1040A>C (p.Glu347Ala) c.2096A>C (p.Glu699Ala)
17	g.42544045A>G	CA399605960	NAGLU	c.2039A>G (p.Glu680Gly) c.1377A>G (n.1377A>G) c.1208A>G (p.Glu403Gly) c.1040A>G (p.Glu347Gly) c.2096A>G (p.Glu699Gly)
17	g.42544045A>T	CA399605962	NAGLU	c.2039A>T (p.Glu680Val) c.1377A>T (n.1377A>T) c.1208A>T (p.Glu403Val) c.1040A>T (p.Glu347Val) c.2096A>T (p.Glu699Val)
17	g.42544046G>A	CA500217205	NAGLU	c.2040G>A (p.Glu680=) c.1378G>A (n.1378G>A) c.1209G>A (p.Glu403=) c.1041G>A (p.Glu347=) c.2097G>A (p.Glu699=)
17	g.42544046G>C	CA399605965	NAGLU	c.2040G>C (p.Glu680Asp) c.1378G>C (n.1378G>C) c.1209G>C (p.Glu403Asp) c.1041G>C (p.Glu347Asp) c.2097G>C (p.Glu699Asp)
17	g.42544046G>T	CA399605967	NAGLU	c.2040G>T (p.Glu680Asp) c.1378G>T (n.1378G>T) c.1209G>T (p.Glu403Asp) c.1041G>T (p.Glu347Asp) c.2097G>T (p.Glu699Asp)
17	g.42544047G>A	CA399605968	NAGLU	c.2041G>A (p.Ala681Thr) c.1379G>A (n.1379G>A) c.1210G>A (p.Ala404Thr) c.1042G>A (p.Ala348Thr) c.2098G>A (p.Ala700Thr)
17	g.42544047G>C	CA399605970	NAGLU	c.2041G>C (p.Ala681Pro) c.1379G>C (n.1379G>C) c.1210G>C (p.Ala404Pro) c.1042G>C (p.Ala348Pro) c.2098G>C (p.Ala700Pro)
17	g.42544047G>T	CA399605971	NAGLU	c.2041G>T (p.Ala681Ser) c.1379G>T (n.1379G>T) c.1210G>T (p.Ala404Ser) c.1042G>T (p.Ala348Ser) c.2098G>T (p.Ala700Ser)
17	g.42544048C>A	CA399605973	NAGLU	c.2042C>A (p.Ala681Glu) c.1380C>A (n.1380C>A) c.1211C>A (p.Ala404Glu) c.1043C>A (p.Ala348Glu) c.2099C>A (p.Ala700Glu)
17	g.42544048C=	CA2260530585	NAGLU	c.2042C= (p.Ala681=) c.1380C= (n.1380C=) c.1211C= (p.Ala404=) c.1043C= (p.Ala348=) c.2099C= (p.Ala700=)
17	g.42544048C>G	CA399605976	NAGLU	c.2042C>G (p.Ala681Gly) c.1380C>G (n.1380C>G) c.1211C>G (p.Ala404Gly) c.1043C>G (p.Ala348Gly) c.2099C>G (p.Ala700Gly)	ClinVar
17	g.42544048C>T	CA8577132	NAGLU	c.2042C>T (p.Ala681Val) c.1380C>T (n.1380C>T) c.1211C>T (p.Ala404Val) c.1043C>T (p.Ala348Val) c.2099C>T (p.Ala700Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.42544049G>A	CA8577133	NAGLU	c.2043G>A (p.Ala681=) c.1381G>A (n.1381G>A) c.1212G>A (p.Ala404=) c.1044G>A (p.Ala348=) c.2100G>A (p.Ala700=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.42544049G>C	CA500217221	NAGLU	c.2043G>C (p.Ala681=) c.1381G>C (n.1381G>C) c.1212G>C (p.Ala404=) c.1044G>C (p.Ala348=) c.2100G>C (p.Ala700=)
17	g.42544049G=	CA2260530586	NAGLU	c.2043G= (p.Ala681=) c.1381G= (n.1381G=) c.1212G= (p.Ala404=) c.1044G= (p.Ala348=) c.2100G= (p.Ala700=)
17	g.42544049G>T	CA500217226	NAGLU	c.2043G>T (p.Ala681=) c.1381G>T (n.1381G>T) c.1212G>T (p.Ala404=) c.1044G>T (p.Ala348=) c.2100G>T (p.Ala700=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.42544050C>A	CA399605979	NAGLU	c.2044C>A (p.Leu682Met) c.1382C>A (n.1382C>A) c.1213C>A (p.Leu405Met) c.1045C>A (p.Leu349Met) c.2101C>A (p.Leu701Met)
17	g.42544050C=	CA2260530587	NAGLU	c.2044C= (p.Leu682=) c.1382C= (n.1382C=) c.1213C= (p.Leu405=) c.1045C= (p.Leu349=) c.2101C= (p.Leu701=)
17	g.42544050C>G	CA399605981	NAGLU	c.2044C>G (p.Leu682Val) c.1382C>G (n.1382C>G) c.1213C>G (p.Leu405Val) c.1045C>G (p.Leu349Val) c.2101C>G (p.Leu701Val)	ClinVar dbSNP
17	g.42544050C>T	CA500217227	NAGLU	c.2044C>T (p.Leu682=) c.1382C>T (n.1382C>T) c.1213C>T (p.Leu405=) c.1045C>T (p.Leu349=) c.2101C>T (p.Leu701=)	ClinVar dbSNP gnomAD v4
17	g.42544051T>A	CA399605982	NAGLU	c.2045T>A (p.Leu682Gln) c.1383T>A (n.1383T>A) c.1214T>A (p.Leu405Gln) c.1046T>A (p.Leu349Gln) c.2102T>A (p.Leu701Gln)
17	g.42544051T>C	CA399605983	NAGLU	c.2045T>C (p.Leu682Pro) c.1383T>C (n.1383T>C) c.1214T>C (p.Leu405Pro) c.1046T>C (p.Leu349Pro) c.2102T>C (p.Leu701Pro)	gnomAD v4
17	g.42544051T>G	CA399605985	NAGLU	c.2045T>G (p.Leu682Arg) c.1383T>G (n.1383T>G) c.1214T>G (p.Leu405Arg) c.1046T>G (p.Leu349Arg) c.2102T>G (p.Leu701Arg)	ClinVar dbSNP gnomAD v4
17	g.42544051T=	CA2260530588	NAGLU	c.2045T= (p.Leu682=) c.1383T= (n.1383T=) c.1214T= (p.Leu405=) c.1046T= (p.Leu349=) c.2102T= (p.Leu701=)
17	g.42544052G>A	CA500217238	NAGLU	c.2046G>A (p.Leu682=) c.1384G>A (n.1384G>A) c.1215G>A (p.Leu405=) c.1047G>A (p.Leu349=) c.2103G>A (p.Leu701=)	ClinVar gnomAD v4
17	g.42544052G>C	CA500217241	NAGLU	c.2046G>C (p.Leu682=) c.1384G>C (n.1384G>C) c.1215G>C (p.Leu405=) c.1047G>C (p.Leu349=) c.2103G>C (p.Leu701=)
17	g.42544052G>T	CA500217239	NAGLU	c.2046G>T (p.Leu682=) c.1384G>T (n.1384G>T) c.1215G>T (p.Leu405=) c.1047G>T (p.Leu349=) c.2103G>T (p.Leu701=)
17	g.42544053G>A	CA399605988	NAGLU	c.2047G>A (p.Val683Ile) c.1385G>A (n.1385G>A) c.1216G>A (p.Val406Ile) c.1048G>A (p.Val350Ile) c.2104G>A (p.Val702Ile)
17	g.42544053G>C	CA399605989	NAGLU	c.2047G>C (p.Val683Leu) c.1385G>C (n.1385G>C) c.1216G>C (p.Val406Leu) c.1048G>C (p.Val350Leu) c.2104G>C (p.Val702Leu)
17	g.42544053G>T	CA399605991	NAGLU	c.2047G>T (p.Val683Phe) c.1385G>T (n.1385G>T) c.1216G>T (p.Val406Phe) c.1048G>T (p.Val350Phe) c.2104G>T (p.Val702Phe)
17	g.42544054T>A	CA399605993	NAGLU	c.2048T>A (p.Val683Asp) c.1386T>A (n.1386T>A) c.1217T>A (p.Val406Asp) c.1049T>A (p.Val350Asp) c.2105T>A (p.Val702Asp)
17	g.42544054T>C	CA399605995	NAGLU	c.2048T>C (p.Val683Ala) c.1386T>C (n.1386T>C) c.1217T>C (p.Val406Ala) c.1049T>C (p.Val350Ala) c.2105T>C (p.Val702Ala)	dbSNP
17	g.42544054T>G	CA399605997	NAGLU	c.2048T>G (p.Val683Gly) c.1386T>G (n.1386T>G) c.1217T>G (p.Val406Gly) c.1049T>G (p.Val350Gly) c.2105T>G (p.Val702Gly)
17	g.42544055T>A	CA500217249	NAGLU	c.2049T>A (p.Val683=) c.1387T>A (n.1387T>A) c.1218T>A (p.Val406=) c.1050T>A (p.Val350=) c.2106T>A (p.Val702=)
17	g.42544055T>C	CA500217247	NAGLU	c.2049T>C (p.Val683=) c.1387T>C (n.1387T>C) c.1218T>C (p.Val406=) c.1050T>C (p.Val350=) c.2106T>C (p.Val702=)
17	g.42544055T>G	CA500217248	NAGLU	c.2049T>G (p.Val683=) c.1387T>G (n.1387T>G) c.1218T>G (p.Val406=) c.1050T>G (p.Val350=) c.2106T>G (p.Val702=)
17	g.42544056G>A	CA399606002	NAGLU	c.2050G>A (p.Asp684Asn) c.1388G>A (n.1388G>A) c.1219G>A (p.Asp407Asn) c.1051G>A (p.Asp351Asn) c.2107G>A (p.Asp703Asn)
17	g.42544056G>C	CA399606000	NAGLU	c.2050G>C (p.Asp684His) c.1388G>C (n.1388G>C) c.1219G>C (p.Asp407His) c.1051G>C (p.Asp351His) c.2107G>C (p.Asp703His)
17	g.42544056G>T	CA399605999	NAGLU	c.2050G>T (p.Asp684Tyr) c.1388G>T (n.1388G>T) c.1219G>T (p.Asp407Tyr) c.1051G>T (p.Asp351Tyr) c.2107G>T (p.Asp703Tyr)
17	g.42544057A>C	CA399606005	NAGLU	c.2051A>C (p.Asp684Ala) c.1389A>C (n.1389A>C) c.1220A>C (p.Asp407Ala) c.1052A>C (p.Asp351Ala) c.2108A>C (p.Asp703Ala)
17	g.42544057A>G	CA399606004	NAGLU	c.2051A>G (p.Asp684Gly) c.1389A>G (n.1389A>G) c.1220A>G (p.Asp407Gly) c.1052A>G (p.Asp351Gly) c.2108A>G (p.Asp703Gly)
17	g.42544057A>T	CA399606007	NAGLU	c.2051A>T (p.Asp684Val) c.1389A>T (n.1389A>T) c.1220A>T (p.Asp407Val) c.1052A>T (p.Asp351Val) c.2108A>T (p.Asp703Val)
17	g.42544058C>A	CA399606009	NAGLU	c.2052C>A (p.Asp684Glu) c.1390C>A (n.1390C>A) c.1221C>A (p.Asp407Glu) c.1053C>A (p.Asp351Glu) c.2109C>A (p.Asp703Glu)
17	g.42544058C>G	CA399606011	NAGLU	c.2052C>G (p.Asp684Glu) c.1390C>G (n.1390C>G) c.1221C>G (p.Asp407Glu) c.1053C>G (p.Asp351Glu) c.2109C>G (p.Asp703Glu)
17	g.42544058C>T	CA500217256	NAGLU	c.2052C>T (p.Asp684=) c.1390C>T (n.1390C>T) c.1221C>T (p.Asp407=) c.1053C>T (p.Asp351=) c.2109C>T (p.Asp703=)
17	g.42544058_42544060del	CA913012296	NAGLU	c.2052_2054del (p.Ser685del) c.1390_1392del (n.1390_1392del) c.1221_1223del (p.Ser408del) c.1053_1055del (p.Ser352del) c.2109_2111del (p.Ser704del)
17	g.42544058_42544060delinsCAG	CA2260530589	NAGLU	c.2052_2054delinsCAG (p.Asp684=) c.1390_1392delinsCAG (n.1390_1392delinsCAG) c.1221_1223delinsCAG (p.Asp407=) c.1053_1055delinsCAG (p.Asp351=) c.2109_2111delinsCAG (p.Asp703=)
17	g.42544059A>C	CA399606013	NAGLU	c.2053A>C (p.Ser685Arg) c.1391A>C (n.1391A>C) c.1222A>C (p.Ser408Arg) c.1054A>C (p.Ser352Arg) c.2110A>C (p.Ser704Arg)	ClinVar gnomAD v4
17	g.42544059A>G	CA399606014	NAGLU	c.2053A>G (p.Ser685Gly) c.1391A>G (n.1391A>G) c.1222A>G (p.Ser408Gly) c.1054A>G (p.Ser352Gly) c.2110A>G (p.Ser704Gly)	ClinVar dbSNP
17	g.42544059A>T	CA399606016	NAGLU	c.2053A>T (p.Ser685Cys) c.1391A>T (n.1391A>T) c.1222A>T (p.Ser408Cys) c.1054A>T (p.Ser352Cys) c.2110A>T (p.Ser704Cys)
17	g.42544059_42544060del	CA658823968	NAGLU	c.2053_2054del (p.Ser685CysfsTer13) c.1391_1392del (n.1391_1392del) c.1222_1223del (p.Ser408CysfsTer13) c.1054_1055del (p.Ser352CysfsTer13) c.2110_2111del (p.Ser704CysfsTer13)	ClinVar dbSNP gnomAD v4
17	g.42544059_42544060delinsAG	CA2260530590	NAGLU	c.2053_2054delinsAG (p.Ser685=) c.1391_1392delinsAG (n.1391_1392delinsAG) c.1222_1223delinsAG (p.Ser408=) c.1054_1055delinsAG (p.Ser352=) c.2110_2111delinsAG (p.Ser704=)
17	g.42544060del	CA626218625	NAGLU	c.2054del (p.Ser685MetfsTer?) c.1392del (n.1392del) c.1223del (p.Ser408MetfsTer?) c.1055del (p.Ser352MetfsTer?) c.2111del (p.Ser704MetfsTer?)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42544060G>A	CA399606020	NAGLU	c.2054G>A (p.Ser685Asn) c.1392G>A (n.1392G>A) c.1223G>A (p.Ser408Asn) c.1055G>A (p.Ser352Asn) c.2111G>A (p.Ser704Asn)	dbSNP gnomAD v4
17	g.42544060G>C	CA399606019	NAGLU	c.2054G>C (p.Ser685Thr) c.1392G>C (n.1392G>C) c.1223G>C (p.Ser408Thr) c.1055G>C (p.Ser352Thr) c.2111G>C (p.Ser704Thr)	ClinVar gnomAD v4
17	g.42544060G=	CA2260530591	NAGLU	c.2054G= (p.Ser685=) c.1392G= (n.1392G=) c.1223G= (p.Ser408=) c.1055G= (p.Ser352=) c.2111G= (p.Ser704=)
17	g.42544060G>T	CA399606018	NAGLU	c.2054G>T (p.Ser685Ile) c.1392G>T (n.1392G>T) c.1223G>T (p.Ser408Ile) c.1055G>T (p.Ser352Ile) c.2111G>T (p.Ser704Ile)	ClinVar
17	g.42544061T>A	CA399606022	NAGLU	c.2055T>A (p.Ser685Arg) c.1393T>A (n.1393T>A) c.1224T>A (p.Ser408Arg) c.1056T>A (p.Ser352Arg) c.2112T>A (p.Ser704Arg)
17	g.42544061T>C	CA8577134	NAGLU	c.2055T>C (p.Ser685=) c.1393T>C (n.1393T>C) c.1224T>C (p.Ser408=) c.1056T>C (p.Ser352=) c.2112T>C (p.Ser704=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.42544061T>G	CA399606024	NAGLU	c.2055T>G (p.Ser685Arg) c.1393T>G (n.1393T>G) c.1224T>G (p.Ser408Arg) c.1056T>G (p.Ser352Arg) c.2112T>G (p.Ser704Arg)
17	g.42544061T=	CA2260530592	NAGLU	c.2055T= (p.Ser685=) c.1393T= (n.1393T=) c.1224T= (p.Ser408=) c.1056T= (p.Ser352=) c.2112T= (p.Ser704=)
17	g.42544062G>A	CA399606027	NAGLU	c.2056G>A (p.Val686Met) c.1394G>A (n.1394G>A) c.1225G>A (p.Val409Met) c.1057G>A (p.Val353Met) c.2113G>A (p.Val705Met)
17	g.42544062G>C	CA399606029	NAGLU	c.2056G>C (p.Val686Leu) c.1394G>C (n.1394G>C) c.1225G>C (p.Val409Leu) c.1057G>C (p.Val353Leu) c.2113G>C (p.Val705Leu)
17	g.42544062G>T	CA399606030	NAGLU	c.2056G>T (p.Val686Leu) c.1394G>T (n.1394G>T) c.1225G>T (p.Val409Leu) c.1057G>T (p.Val353Leu) c.2113G>T (p.Val705Leu)
17	g.42544063T>A	CA399606031	NAGLU	c.2057T>A (p.Val686Glu) c.1395T>A (n.1395T>A) c.1226T>A (p.Val409Glu) c.1058T>A (p.Val353Glu) c.2114T>A (p.Val705Glu)
17	g.42544063T>C	CA8577135	NAGLU	c.2057T>C (p.Val686Ala) c.1395T>C (n.1395T>C) c.1226T>C (p.Val409Ala) c.1058T>C (p.Val353Ala) c.2114T>C (p.Val705Ala)	dbSNP ExAC gnomAD v2
17	g.42544063T>G	CA399606033	NAGLU	c.2057T>G (p.Val686Gly) c.1395T>G (n.1395T>G) c.1226T>G (p.Val409Gly) c.1058T>G (p.Val353Gly) c.2114T>G (p.Val705Gly)
17	g.42544063T=	CA2260530593	NAGLU	c.2057T= (p.Val686=) c.1395T= (n.1395T=) c.1226T= (p.Val409=) c.1058T= (p.Val353=) c.2114T= (p.Val705=)
17	g.42544064G>A	CA290781205	NAGLU	c.2058G>A (p.Val686=) c.1396G>A (n.1396G>A) c.1227G>A (p.Val409=) c.1059G>A (p.Val353=) c.2115G>A (p.Val705=)	dbSNP
17	g.42544064G>C	CA500217266	NAGLU	c.2058G>C (p.Val686=) c.1396G>C (n.1396G>C) c.1227G>C (p.Val409=) c.1059G>C (p.Val353=) c.2115G>C (p.Val705=)
17	g.42544064G=	CA2260530594	NAGLU	c.2058G= (p.Val686=) c.1396G= (n.1396G=) c.1227G= (p.Val409=) c.1059G= (p.Val353=) c.2115G= (p.Val705=)
17	g.42544064G>T	CA500217263	NAGLU	c.2058G>T (p.Val686=) c.1396G>T (n.1396G>T) c.1227G>T (p.Val409=) c.1059G>T (p.Val353=) c.2115G>T (p.Val705=)
17	g.42544065G>A	CA399606037	NAGLU	c.2059G>A (p.Ala687Thr) c.1397G>A (n.1397G>A) c.1228G>A (p.Ala410Thr) c.1060G>A (p.Ala354Thr) c.2116G>A (p.Ala706Thr)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42544065G>C	CA399606039	NAGLU	c.2059G>C (p.Ala687Pro) c.1397G>C (n.1397G>C) c.1228G>C (p.Ala410Pro) c.1060G>C (p.Ala354Pro) c.2116G>C (p.Ala706Pro)
17	g.42544065G=	CA2260530595	NAGLU	c.2059G= (p.Ala687=) c.1397G= (n.1397G=) c.1228G= (p.Ala410=) c.1060G= (p.Ala354=) c.2116G= (p.Ala706=)
17	g.42544065G>T	CA399606041	NAGLU	c.2059G>T (p.Ala687Ser) c.1397G>T (n.1397G>T) c.1228G>T (p.Ala410Ser) c.1060G>T (p.Ala354Ser) c.2116G>T (p.Ala706Ser)
17	g.42544066C>A	CA399606042	NAGLU	c.2060C>A (p.Ala687Asp) c.1398C>A (n.1398C>A) c.1229C>A (p.Ala410Asp) c.1061C>A (p.Ala354Asp) c.2117C>A (p.Ala706Asp)
17	g.42544066C>G	CA399606043	NAGLU	c.2060C>G (p.Ala687Gly) c.1398C>G (n.1398C>G) c.1229C>G (p.Ala410Gly) c.1061C>G (p.Ala354Gly) c.2117C>G (p.Ala706Gly)
17	g.42544066C>T	CA399606045	NAGLU	c.2060C>T (p.Ala687Val) c.1398C>T (n.1398C>T) c.1229C>T (p.Ala410Val) c.1061C>T (p.Ala354Val) c.2117C>T (p.Ala706Val)
17	g.42544067C>A	CA500217270	NAGLU	c.2061C>A (p.Ala687=) c.1399C>A (n.1399C>A) c.1230C>A (p.Ala410=) c.1062C>A (p.Ala354=) c.2118C>A (p.Ala706=)
17	g.42544067C>G	CA500217271	NAGLU	c.2061C>G (p.Ala687=) c.1399C>G (n.1399C>G) c.1230C>G (p.Ala410=) c.1062C>G (p.Ala354=) c.2118C>G (p.Ala706=)
17	g.42544067C>T	CA500217272	NAGLU	c.2061C>T (p.Ala687=) c.1399C>T (n.1399C>T) c.1230C>T (p.Ala410=) c.1062C>T (p.Ala354=) c.2118C>T (p.Ala706=)	ClinVar gnomAD v4
17	g.42544068C>A	CA399606047	NAGLU	c.2062C>A (p.Gln688Lys) c.1400C>A (n.1400C>A) c.1231C>A (p.Gln411Lys) c.1063C>A (p.Gln355Lys) c.2119C>A (p.Gln707Lys)
17	g.42544068C=	CA2260530596	NAGLU	c.2062C= (p.Gln688=) c.1400C= (n.1400C=) c.1231C= (p.Gln411=) c.1063C= (p.Gln355=) c.2119C= (p.Gln707=)
17	g.42544068C>G	CA399606048	NAGLU	c.2062C>G (p.Gln688Glu) c.1400C>G (n.1400C>G) c.1231C>G (p.Gln411Glu) c.1063C>G (p.Gln355Glu) c.2119C>G (p.Gln707Glu)	dbSNP gnomAD v2 gnomAD v4
17	g.42544068C>T	CA399606050	NAGLU	c.2062C>T (p.Gln688Ter) c.1400C>T (n.1400C>T) c.1231C>T (p.Gln411Ter) c.1063C>T (p.Gln355Ter) c.2119C>T (p.Gln707Ter)	ClinVar dbSNP
17	g.42544069A=	CA2260530597	NAGLU	c.2063A= (p.Gln688=) c.1401A= (n.1401A=) c.1232A= (p.Gln411=) c.1064A= (p.Gln355=) c.2120A= (p.Gln707=)
17	g.42544069A>C	CA399606054	NAGLU	c.2063A>C (p.Gln688Pro) c.1401A>C (n.1401A>C) c.1232A>C (p.Gln411Pro) c.1064A>C (p.Gln355Pro) c.2120A>C (p.Gln707Pro)
17	g.42544069A>G	CA8577136	NAGLU	c.2063A>G (p.Gln688Arg) c.1401A>G (n.1401A>G) c.1232A>G (p.Gln411Arg) c.1064A>G (p.Gln355Arg) c.2120A>G (p.Gln707Arg)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42544069A>T	CA399606052	NAGLU	c.2063A>T (p.Gln688Leu) c.1401A>T (n.1401A>T) c.1232A>T (p.Gln411Leu) c.1064A>T (p.Gln355Leu) c.2120A>T (p.Gln707Leu)
17	g.42544070G>A	CA500217279	NAGLU	c.2064G>A (p.Gln688=) c.1402G>A (n.1402G>A) c.1233G>A (p.Gln411=) c.1065G>A (p.Gln355=) c.2121G>A (p.Gln707=)
17	g.42544070G>C	CA399606056	NAGLU	c.2064G>C (p.Gln688His) c.1402G>C (n.1402G>C) c.1233G>C (p.Gln411His) c.1065G>C (p.Gln355His) c.2121G>C (p.Gln707His)
17	g.42544070G>T	CA399606058	NAGLU	c.2064G>T (p.Gln688His) c.1402G>T (n.1402G>T) c.1233G>T (p.Gln411His) c.1065G>T (p.Gln355His) c.2121G>T (p.Gln707His)
17	g.42544072del	CA2740095370	NAGLU	c.2066del (p.Gly689AlafsTer?) c.1404del (n.1404del) c.1235del (p.Gly412AlafsTer?) c.1067del (p.Gly356AlafsTer?) c.2123del (p.Gly708AlafsTer?)	ClinVar
17	g.42544071G>A	CA399606060	NAGLU	c.2065G>A (p.Gly689Ser) c.1403G>A (n.1403G>A) c.1234G>A (p.Gly412Ser) c.1066G>A (p.Gly356Ser) c.2122G>A (p.Gly708Ser)	dbSNP gnomAD v2
17	g.42544071G>C	CA399606062	NAGLU	c.2065G>C (p.Gly689Arg) c.1403G>C (n.1403G>C) c.1234G>C (p.Gly412Arg) c.1066G>C (p.Gly356Arg) c.2122G>C (p.Gly708Arg)
17	g.42544071G=	CA2260530598	NAGLU	c.2065G= (p.Gly689=) c.1403G= (n.1403G=) c.1234G= (p.Gly412=) c.1066G= (p.Gly356=) c.2122G= (p.Gly708=)
17	g.42544071G>T	CA399606064	NAGLU	c.2065G>T (p.Gly689Cys) c.1403G>T (n.1403G>T) c.1234G>T (p.Gly412Cys) c.1066G>T (p.Gly356Cys) c.2122G>T (p.Gly708Cys)
17	g.42544072G>A	CA399606066	NAGLU	c.2066G>A (p.Gly689Asp) c.1404G>A (n.1404G>A) c.1235G>A (p.Gly412Asp) c.1067G>A (p.Gly356Asp) c.2123G>A (p.Gly708Asp)
17	g.42544072G>C	CA399606068	NAGLU	c.2066G>C (p.Gly689Ala) c.1404G>C (n.1404G>C) c.1235G>C (p.Gly412Ala) c.1067G>C (p.Gly356Ala) c.2123G>C (p.Gly708Ala)
17	g.42544072G>T	CA399606069	NAGLU	c.2066G>T (p.Gly689Val) c.1404G>T (n.1404G>T) c.1235G>T (p.Gly412Val) c.1067G>T (p.Gly356Val) c.2123G>T (p.Gly708Val)
17	g.42544073C>A	CA500217285	NAGLU	c.2067C>A (p.Gly689=) c.1405C>A (n.1405C>A) c.1236C>A (p.Gly412=) c.1068C>A (p.Gly356=) c.2124C>A (p.Gly708=)
17	g.42544073C>G	CA500217284	NAGLU	c.2067C>G (p.Gly689=) c.1405C>G (n.1405C>G) c.1236C>G (p.Gly412=) c.1068C>G (p.Gly356=) c.2124C>G (p.Gly708=)
17	g.42544073C>T	CA500217286	NAGLU	c.2067C>T (p.Gly689=) c.1405C>T (n.1405C>T) c.1236C>T (p.Gly412=) c.1068C>T (p.Gly356=) c.2124C>T (p.Gly708=)	ClinVar
17	g.42544074A=	CA2260530599	NAGLU	c.2068A= (p.Ile690=) c.1406A= (n.1406A=) c.1237A= (p.Ile413=) c.1069A= (p.Ile357=) c.2125A= (p.Ile709=)
17	g.42544074A>C	CA399606071	NAGLU	c.2068A>C (p.Ile690Leu) c.1406A>C (n.1406A>C) c.1237A>C (p.Ile413Leu) c.1069A>C (p.Ile357Leu) c.2125A>C (p.Ile709Leu)
17	g.42544074A>G	CA290781207	NAGLU	c.2068A>G (p.Ile690Val) c.1406A>G (n.1406A>G) c.1237A>G (p.Ile413Val) c.1069A>G (p.Ile357Val) c.2125A>G (p.Ile709Val)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42544074A>T	CA399606074	NAGLU	c.2068A>T (p.Ile690Phe) c.1406A>T (n.1406A>T) c.1237A>T (p.Ile413Phe) c.1069A>T (p.Ile357Phe) c.2125A>T (p.Ile709Phe)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.42544075T>A	CA399606076	NAGLU	c.2069T>A (p.Ile690Asn) c.1407T>A (n.1407T>A) c.1238T>A (p.Ile413Asn) c.1070T>A (p.Ile357Asn) c.2126T>A (p.Ile709Asn)
17	g.42544075T>C	CA399606077	NAGLU	c.2069T>C (p.Ile690Thr) c.1407T>C (n.1407T>C) c.1238T>C (p.Ile413Thr) c.1070T>C (p.Ile357Thr) c.2126T>C (p.Ile709Thr)
17	g.42544075T>G	CA399606078	NAGLU	c.2069T>G (p.Ile690Ser) c.1407T>G (n.1407T>G) c.1238T>G (p.Ile413Ser) c.1070T>G (p.Ile357Ser) c.2126T>G (p.Ile709Ser)
17	g.42544076C>A	CA500217292	NAGLU	c.2070C>A (p.Ile690=) c.1408C>A (n.1408C>A) c.1239C>A (p.Ile413=) c.1071C>A (p.Ile357=) c.2127C>A (p.Ile709=)
17	g.42544076C>G	CA399606080	NAGLU	c.2070C>G (p.Ile690Met) c.1408C>G (n.1408C>G) c.1239C>G (p.Ile413Met) c.1071C>G (p.Ile357Met) c.2127C>G (p.Ile709Met)
17	g.42544076C>T	CA500217294	NAGLU	c.2070C>T (p.Ile690=) c.1408C>T (n.1408C>T) c.1239C>T (p.Ile413=) c.1071C>T (p.Ile357=) c.2127C>T (p.Ile709=)	ClinVar
17	g.42544077C>A	CA399606082	NAGLU	c.2071C>A (p.Pro691Thr) c.1409C>A (n.1409C>A) c.1240C>A (p.Pro414Thr) c.1072C>A (p.Pro358Thr) c.2128C>A (p.Pro710Thr)
17	g.42544077C=	CA2260530600	NAGLU	c.2071C= (p.Pro691=) c.1409C= (n.1409C=) c.1240C= (p.Pro414=) c.1072C= (p.Pro358=) c.2128C= (p.Pro710=)
17	g.42544077C>G	CA399606083	NAGLU	c.2071C>G (p.Pro691Ala) c.1409C>G (n.1409C>G) c.1240C>G (p.Pro414Ala) c.1072C>G (p.Pro358Ala) c.2128C>G (p.Pro710Ala)
17	g.42544077C>T	CA399606085	NAGLU	c.2071C>T (p.Pro691Ser) c.1409C>T (n.1409C>T) c.1240C>T (p.Pro414Ser) c.1072C>T (p.Pro358Ser) c.2128C>T (p.Pro710Ser)	dbSNP gnomAD v4
17	g.42544078C>A	CA399606088	NAGLU	c.2072C>A (p.Pro691His) c.1410C>A (n.1410C>A) c.1241C>A (p.Pro414His) c.1073C>A (p.Pro358His) c.2129C>A (p.Pro710His)
17	g.42544078C>G	CA399606089	NAGLU	c.2072C>G (p.Pro691Arg) c.1410C>G (n.1410C>G) c.1241C>G (p.Pro414Arg) c.1073C>G (p.Pro358Arg) c.2129C>G (p.Pro710Arg)
17	g.42544078C>T	CA399606090	NAGLU	c.2072C>T (p.Pro691Leu) c.1410C>T (n.1410C>T) c.1241C>T (p.Pro414Leu) c.1073C>T (p.Pro358Leu) c.2129C>T (p.Pro710Leu)
17	g.42544079T>A	CA500217300	NAGLU	c.2073T>A (p.Pro691=) c.1411T>A (n.1411T>A) c.1242T>A (p.Pro414=) c.1074T>A (p.Pro358=) c.2130T>A (p.Pro710=)
17	g.42544079T>C	CA500217298	NAGLU	c.2073T>C (p.Pro691=) c.1411T>C (n.1411T>C) c.1242T>C (p.Pro414=) c.1074T>C (p.Pro358=) c.2130T>C (p.Pro710=)
17	g.42544079T>G	CA500217299	NAGLU	c.2073T>G (p.Pro691=) c.1411T>G (n.1411T>G) c.1242T>G (p.Pro414=) c.1074T>G (p.Pro358=) c.2130T>G (p.Pro710=)
17	g.42544080T>A	CA399606091	NAGLU	c.2074T>A (p.Phe692Ile) c.1412T>A (n.1412T>A) c.1243T>A (p.Phe415Ile) c.1075T>A (p.Phe359Ile) c.2131T>A (p.Phe711Ile)
17	g.42544080T>C	CA399606092	NAGLU	c.2074T>C (p.Phe692Leu) c.1412T>C (n.1412T>C) c.1243T>C (p.Phe415Leu) c.1075T>C (p.Phe359Leu) c.2131T>C (p.Phe711Leu)
17	g.42544080T>G	CA399606093	NAGLU	c.2074T>G (p.Phe692Val) c.1412T>G (n.1412T>G) c.1243T>G (p.Phe415Val) c.1075T>G (p.Phe359Val) c.2131T>G (p.Phe711Val)
17	g.42544081T>A	CA399606094	NAGLU	c.2075T>A (p.Phe692Tyr) c.1413T>A (n.1413T>A) c.1244T>A (p.Phe415Tyr) c.1076T>A (p.Phe359Tyr) c.2132T>A (p.Phe711Tyr)
17	g.42544081T>C	CA399606095	NAGLU	c.2075T>C (p.Phe692Ser) c.1413T>C (n.1413T>C) c.1244T>C (p.Phe415Ser) c.1076T>C (p.Phe359Ser) c.2132T>C (p.Phe711Ser)
17	g.42544081T>G	CA399606096	NAGLU	c.2075T>G (p.Phe692Cys) c.1413T>G (n.1413T>G) c.1244T>G (p.Phe415Cys) c.1076T>G (p.Phe359Cys) c.2132T>G (p.Phe711Cys)	dbSNP gnomAD v4
17	g.42544081T=	CA2260530601	NAGLU	c.2075T= (p.Phe692=) c.1413T= (n.1413T=) c.1244T= (p.Phe415=) c.1076T= (p.Phe359=) c.2132T= (p.Phe711=)
17	g.42544082C>A	CA399606097	NAGLU	c.2076C>A (p.Phe692Leu) c.1414C>A (n.1414C>A) c.1245C>A (p.Phe415Leu) c.1077C>A (p.Phe359Leu) c.2133C>A (p.Phe711Leu)
17	g.42544082C=	CA2260530602	NAGLU	c.2076C= (p.Phe692=) c.1414C= (n.1414C=) c.1245C= (p.Phe415=) c.1077C= (p.Phe359=) c.2133C= (p.Phe711=)
17	g.42544082C>G	CA399606098	NAGLU	c.2076C>G (p.Phe692Leu) c.1414C>G (n.1414C>G) c.1245C>G (p.Phe415Leu) c.1077C>G (p.Phe359Leu) c.2133C>G (p.Phe711Leu)	ClinVar dbSNP gnomAD v4
17	g.42544082C>T	CA500217305	NAGLU	c.2076C>T (p.Phe692=) c.1414C>T (n.1414C>T) c.1245C>T (p.Phe415=) c.1077C>T (p.Phe359=) c.2133C>T (p.Phe711=)	ClinVar dbSNP gnomAD v4
17	g.42544083C>A	CA399606100	NAGLU	c.2077C>A (p.Gln693Lys) c.1415C>A (n.1415C>A) c.1246C>A (p.Gln416Lys) c.1078C>A (p.Gln360Lys) c.2134C>A (p.Gln712Lys)
17	g.42544083C>G	CA399606101	NAGLU	c.2077C>G (p.Gln693Glu) c.1415C>G (n.1415C>G) c.1246C>G (p.Gln416Glu) c.1078C>G (p.Gln360Glu) c.2134C>G (p.Gln712Glu)
17	g.42544083C>T	CA399606099	NAGLU	c.2077C>T (p.Gln693Ter) c.1415C>T (n.1415C>T) c.1246C>T (p.Gln416Ter) c.1078C>T (p.Gln360Ter) c.2134C>T (p.Gln712Ter)
17	g.42544084A>C	CA399606102	NAGLU	c.2078A>C (p.Gln693Pro) c.1416A>C (n.1416A>C) c.1247A>C (p.Gln416Pro) c.1079A>C (p.Gln360Pro) c.2135A>C (p.Gln712Pro)
17	g.42544084A>G	CA399606104	NAGLU	c.2078A>G (p.Gln693Arg) c.1416A>G (n.1416A>G) c.1247A>G (p.Gln416Arg) c.1079A>G (p.Gln360Arg) c.2135A>G (p.Gln712Arg)
17	g.42544084A>T	CA399606103	NAGLU	c.2078A>T (p.Gln693Leu) c.1416A>T (n.1416A>T) c.1247A>T (p.Gln416Leu) c.1079A>T (p.Gln360Leu) c.2135A>T (p.Gln712Leu)
17	g.42544085A=	CA2260530603	NAGLU	c.2079A= (p.Gln693=) c.1417A= (n.1417A=) c.1248A= (p.Gln416=) c.1080A= (p.Gln360=) c.2136A= (p.Gln712=)
17	g.42544085A>C	CA399606105	NAGLU	c.2079A>C (p.Gln693His) c.1417A>C (n.1417A>C) c.1248A>C (p.Gln416His) c.1080A>C (p.Gln360His) c.2136A>C (p.Gln712His)
17	g.42544085A>G	CA500217311	NAGLU	c.2079A>G (p.Gln693=) c.1417A>G (n.1417A>G) c.1248A>G (p.Gln416=) c.1080A>G (p.Gln360=) c.2136A>G (p.Gln712=)	dbSNP gnomAD v4
17	g.42544085A>T	CA399606106	NAGLU	c.2079A>T (p.Gln693His) c.1417A>T (n.1417A>T) c.1248A>T (p.Gln416His) c.1080A>T (p.Gln360His) c.2136A>T (p.Gln712His)
17	g.42544086C>A	CA399606107	NAGLU	c.2080C>A (p.Gln694Lys) c.1418C>A (n.1418C>A) c.1249C>A (p.Gln417Lys) c.1081C>A (p.Gln361Lys) c.2137C>A (p.Gln713Lys)
17	g.42544086C=	CA2260530604	NAGLU	c.2080C= (p.Gln694=) c.1418C= (n.1418C=) c.1249C= (p.Gln417=) c.1081C= (p.Gln361=) c.2137C= (p.Gln713=)
17	g.42544086C>G	CA399606108	NAGLU	c.2080C>G (p.Gln694Glu) c.1418C>G (n.1418C>G) c.1249C>G (p.Gln417Glu) c.1081C>G (p.Gln361Glu) c.2137C>G (p.Gln713Glu)
17	g.42544086C>T	CA399606109	NAGLU	c.2080C>T (p.Gln694Ter) c.1418C>T (n.1418C>T) c.1249C>T (p.Gln417Ter) c.1081C>T (p.Gln361Ter) c.2137C>T (p.Gln713Ter)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42544087A>C	CA399606110	NAGLU	c.2081A>C (p.Gln694Pro) c.1419A>C (n.1419A>C) c.1250A>C (p.Gln417Pro) c.1082A>C (p.Gln361Pro) c.2138A>C (p.Gln713Pro)
17	g.42544087A>G	CA399606111	NAGLU	c.2081A>G (p.Gln694Arg) c.1419A>G (n.1419A>G) c.1250A>G (p.Gln417Arg) c.1082A>G (p.Gln361Arg) c.2138A>G (p.Gln713Arg)
17	g.42544087A>T	CA399606112	NAGLU	c.2081A>T (p.Gln694Leu) c.1419A>T (n.1419A>T) c.1250A>T (p.Gln417Leu) c.1082A>T (p.Gln361Leu) c.2138A>T (p.Gln713Leu)
17	g.42544088G>A	CA500217315	NAGLU	c.2082G>A (p.Gln694=) c.1420G>A (n.1420G>A) c.1251G>A (p.Gln417=) c.1083G>A (p.Gln361=) c.2139G>A (p.Gln713=)	COSMIC
17	g.42544088G>C	CA399606113	NAGLU	c.2082G>C (p.Gln694His) c.1420G>C (n.1420G>C) c.1251G>C (p.Gln417His) c.1083G>C (p.Gln361His) c.2139G>C (p.Gln713His)
17	g.42544088G>T	CA399606114	NAGLU	c.2082G>T (p.Gln694His) c.1420G>T (n.1420G>T) c.1251G>T (p.Gln417His) c.1083G>T (p.Gln361His) c.2139G>T (p.Gln713His)
17	g.42544089C>A	CA399606115	NAGLU	c.2083C>A (p.His695Asn) c.1421C>A (n.1421C>A) c.1252C>A (p.His418Asn) c.1084C>A (p.His362Asn) c.2140C>A (p.His714Asn)
17	g.42544089C=	CA2260530605	NAGLU	c.2083C= (p.His695=) c.1421C= (n.1421C=) c.1252C= (p.His418=) c.1084C= (p.His362=) c.2140C= (p.His714=)
17	g.42544089C>G	CA399606116	NAGLU	c.2083C>G (p.His695Asp) c.1421C>G (n.1421C>G) c.1252C>G (p.His418Asp) c.1084C>G (p.His362Asp) c.2140C>G (p.His714Asp)	gnomAD v4
17	g.42544089C>T	CA8577137	NAGLU	c.2083C>T (p.His695Tyr) c.1421C>T (n.1421C>T) c.1252C>T (p.His418Tyr) c.1084C>T (p.His362Tyr) c.2140C>T (p.His714Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42544090A>C	CA399606117	NAGLU	c.2084A>C (p.His695Pro) c.1422A>C (n.1422A>C) c.1253A>C (p.His418Pro) c.1085A>C (p.His362Pro) c.2141A>C (p.His714Pro)
17	g.42544090A>G	CA399606119	NAGLU	c.2084A>G (p.His695Arg) c.1422A>G (n.1422A>G) c.1253A>G (p.His418Arg) c.1085A>G (p.His362Arg) c.2141A>G (p.His714Arg)
17	g.42544090A>T	CA399606118	NAGLU	c.2084A>T (p.His695Leu) c.1422A>T (n.1422A>T) c.1253A>T (p.His418Leu) c.1085A>T (p.His362Leu) c.2141A>T (p.His714Leu)
17	g.42544091C>A	CA399606120	NAGLU	c.2085C>A (p.His695Gln) c.1423C>A (n.1423C>A) c.1254C>A (p.His418Gln) c.1086C>A (p.His362Gln) c.2142C>A (p.His714Gln)	gnomAD v4
17	g.42544091C=	CA2260530606	NAGLU	c.2085C= (p.His695=) c.1423C= (n.1423C=) c.1254C= (p.His418=) c.1086C= (p.His362=) c.2142C= (p.His714=)
17	g.42544091C>G	CA290781215	NAGLU	c.2085C>G (p.His695Gln) c.1423C>G (n.1423C>G) c.1254C>G (p.His418Gln) c.1086C>G (p.His362Gln) c.2142C>G (p.His714Gln)	ClinVar dbSNP gnomAD v4
17	g.42544091C>T	CA500217320	NAGLU	c.2085C>T (p.His695=) c.1423C>T (n.1423C>T) c.1254C>T (p.His418=) c.1086C>T (p.His362=) c.2142C>T (p.His714=)	ClinVar
17	g.42544092C>A	CA399606121	NAGLU	c.2086C>A (p.Gln696Lys) c.1424C>A (n.1424C>A) c.1255C>A (p.Gln419Lys) c.1087C>A (p.Gln363Lys) c.2143C>A (p.Gln715Lys)
17	g.42544092C>G	CA399606122	NAGLU	c.2086C>G (p.Gln696Glu) c.1424C>G (n.1424C>G) c.1255C>G (p.Gln419Glu) c.1087C>G (p.Gln363Glu) c.2143C>G (p.Gln715Glu)
17	g.42544092C>T	CA399606123	NAGLU	c.2086C>T (p.Gln696Ter) c.1424C>T (n.1424C>T) c.1255C>T (p.Gln419Ter) c.1087C>T (p.Gln363Ter) c.2143C>T (p.Gln715Ter)	COSMIC
17	g.42544092_42544093del	CA645588251	NAGLU	c.2086_2087del (p.Gln696ValfsTer2) c.1424_1425del (n.1424_1425del) c.1255_1256del (p.Gln419ValfsTer2) c.1087_1088del (p.Gln363ValfsTer2) c.2143_2144del (p.Gln715ValfsTer2)	COSMIC
17	g.42544093A=	CA2260530607	NAGLU	c.2087A= (p.Gln696=) c.1425A= (n.1425A=) c.1256A= (p.Gln419=) c.1088A= (p.Gln363=) c.2144A= (p.Gln715=)
17	g.42544093A>C	CA399606124	NAGLU	c.2087A>C (p.Gln696Pro) c.1425A>C (n.1425A>C) c.1256A>C (p.Gln419Pro) c.1088A>C (p.Gln363Pro) c.2144A>C (p.Gln715Pro)	dbSNP gnomAD v2 gnomAD v4
17	g.42544093A>G	CA399606125	NAGLU	c.2087A>G (p.Gln696Arg) c.1425A>G (n.1425A>G) c.1256A>G (p.Gln419Arg) c.1088A>G (p.Gln363Arg) c.2144A>G (p.Gln715Arg)
17	g.42544093A>T	CA399606126	NAGLU	c.2087A>T (p.Gln696Leu) c.1425A>T (n.1425A>T) c.1256A>T (p.Gln419Leu) c.1088A>T (p.Gln363Leu) c.2144A>T (p.Gln715Leu)
17	g.42544094G>A	CA500217330	NAGLU	c.2088G>A (p.Gln696=) c.1426G>A (n.1426G>A) c.1257G>A (p.Gln419=) c.1089G>A (p.Gln363=) c.2145G>A (p.Gln715=)	dbSNP gnomAD v2 gnomAD v4 COSMIC
17	g.42544094G>C	CA399606127	NAGLU	c.2088G>C (p.Gln696His) c.1426G>C (n.1426G>C) c.1257G>C (p.Gln419His) c.1089G>C (p.Gln363His) c.2145G>C (p.Gln715His)	gnomAD v4
17	g.42544094G=	CA2260530608	NAGLU	c.2088G= (p.Gln696=) c.1426G= (n.1426G=) c.1257G= (p.Gln419=) c.1089G= (p.Gln363=) c.2145G= (p.Gln715=)
17	g.42544094G>T	CA399606128	NAGLU	c.2088G>T (p.Gln696His) c.1426G>T (n.1426G>T) c.1257G>T (p.Gln419His) c.1089G>T (p.Gln363His) c.2145G>T (p.Gln715His)
17	g.42544095T>A	CA399606131	NAGLU	c.2089T>A (p.Phe697Ile) c.1427T>A (n.1427T>A) c.1258T>A (p.Phe420Ile) c.1090T>A (p.Phe364Ile) c.2146T>A (p.Phe716Ile)
17	g.42544095T>C	CA399606130	NAGLU	c.2089T>C (p.Phe697Leu) c.1427T>C (n.1427T>C) c.1258T>C (p.Phe420Leu) c.1090T>C (p.Phe364Leu) c.2146T>C (p.Phe716Leu)
17	g.42544095T>G	CA399606129	NAGLU	c.2089T>G (p.Phe697Val) c.1427T>G (n.1427T>G) c.1258T>G (p.Phe420Val) c.1090T>G (p.Phe364Val) c.2146T>G (p.Phe716Val)
17	g.42544096T>A	CA399606134	NAGLU	c.2090T>A (p.Phe697Tyr) c.1428T>A (n.1428T>A) c.1259T>A (p.Phe420Tyr) c.1091T>A (p.Phe364Tyr) c.2147T>A (p.Phe716Tyr)
17	g.42544096T>C	CA399606132	NAGLU	c.2090T>C (p.Phe697Ser) c.1428T>C (n.1428T>C) c.1259T>C (p.Phe420Ser) c.1091T>C (p.Phe364Ser) c.2147T>C (p.Phe716Ser)
17	g.42544096T>G	CA399606133	NAGLU	c.2090T>G (p.Phe697Cys) c.1428T>G (n.1428T>G) c.1259T>G (p.Phe420Cys) c.1091T>G (p.Phe364Cys) c.2147T>G (p.Phe716Cys)
17	g.42544097T>A	CA399606135	NAGLU	c.2091T>A (p.Phe697Leu) c.1429T>A (n.1429T>A) c.1260T>A (p.Phe420Leu) c.1092T>A (p.Phe364Leu) c.2148T>A (p.Phe716Leu)
17	g.42544097T>C	CA500217337	NAGLU	c.2091T>C (p.Phe697=) c.1429T>C (n.1429T>C) c.1260T>C (p.Phe420=) c.1092T>C (p.Phe364=) c.2148T>C (p.Phe716=)
17	g.42544097T>G	CA399606136	NAGLU	c.2091T>G (p.Phe697Leu) c.1429T>G (n.1429T>G) c.1260T>G (p.Phe420Leu) c.1092T>G (p.Phe364Leu) c.2148T>G (p.Phe716Leu)
17	g.42544097_42544098delinsTG	CA2260530609	NAGLU	c.2091_2092delinsTG (p.Phe697=) c.1429_1430delinsTG (n.1429_1430delinsTG) c.1260_1261delinsTG (p.Phe420=) c.1092_1093delinsTG (p.Phe364=) c.2148_2149delinsTG (p.Phe716=)
17	g.42544098del	CA8577138	NAGLU	c.2092del (p.Asp698ThrfsTer?) c.1430del (n.1430del) c.1261del (p.Asp421ThrfsTer?) c.1093del (p.Asp365ThrfsTer?) c.2149del (p.Asp717ThrfsTer?)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.42544098G>A	CA290781219	NAGLU	c.2092G>A (p.Asp698Asn) c.1430G>A (n.1430G>A) c.1261G>A (p.Asp421Asn) c.1093G>A (p.Asp365Asn) c.2149G>A (p.Asp717Asn)	ClinVar dbSNP
17	g.42544098G>C	CA399606137	NAGLU	c.2092G>C (p.Asp698His) c.1430G>C (n.1430G>C) c.1261G>C (p.Asp421His) c.1093G>C (p.Asp365His) c.2149G>C (p.Asp717His)
17	g.42544098G=	CA2260530610	NAGLU	c.2092G= (p.Asp698=) c.1430G= (n.1430G=) c.1261G= (p.Asp421=) c.1093G= (p.Asp365=) c.2149G= (p.Asp717=)
17	g.42544098G>T	CA399606138	NAGLU	c.2092G>T (p.Asp698Tyr) c.1430G>T (n.1430G>T) c.1261G>T (p.Asp421Tyr) c.1093G>T (p.Asp365Tyr) c.2149G>T (p.Asp717Tyr)
17	g.42544099A>C	CA399606139	NAGLU	c.2093A>C (p.Asp698Ala) c.1431A>C (n.1431A>C) c.1262A>C (p.Asp421Ala) c.1094A>C (p.Asp365Ala) c.2150A>C (p.Asp717Ala)
17	g.42544099A>G	CA399606140	NAGLU	c.2093A>G (p.Asp698Gly) c.1431A>G (n.1431A>G) c.1262A>G (p.Asp421Gly) c.1094A>G (p.Asp365Gly) c.2150A>G (p.Asp717Gly)
17	g.42544099A>T	CA399606141	NAGLU	c.2093A>T (p.Asp698Val) c.1431A>T (n.1431A>T) c.1262A>T (p.Asp421Val) c.1094A>T (p.Asp365Val) c.2150A>T (p.Asp717Val)
17	g.42544100C>A	CA399606142	NAGLU	c.2094C>A (p.Asp698Glu) c.1432C>A (n.1432C>A) c.1263C>A (p.Asp421Glu) c.1095C>A (p.Asp365Glu) c.2151C>A (p.Asp717Glu)
17	g.42544100C>G	CA399606143	NAGLU	c.2094C>G (p.Asp698Glu) c.1432C>G (n.1432C>G) c.1263C>G (p.Asp421Glu) c.1095C>G (p.Asp365Glu) c.2151C>G (p.Asp717Glu)
17	g.42544100C>T	CA500217345	NAGLU	c.2094C>T (p.Asp698=) c.1432C>T (n.1432C>T) c.1263C>T (p.Asp421=) c.1095C>T (p.Asp365=) c.2151C>T (p.Asp717=)
17	g.42544100_42544101delinsCA	CA2260530611	NAGLU	c.2094_2095delinsCA (p.Asp698=) c.1432_1433delinsCA (n.1432_1433delinsCA) c.1263_1264delinsCA (p.Asp421=) c.1095_1096delinsCA (p.Asp365=) c.2151_2152delinsCA (p.Asp717=)
17	g.42544101A>C	CA399606146	NAGLU	c.2095A>C (p.Lys699Gln) c.1433A>C (n.1433A>C) c.1264A>C (p.Lys422Gln) c.1096A>C (p.Lys366Gln) c.2152A>C (p.Lys718Gln)
17	g.42544101A>G	CA399606144	NAGLU	c.2095A>G (p.Lys699Glu) c.1433A>G (n.1433A>G) c.1264A>G (p.Lys422Glu) c.1096A>G (p.Lys366Glu) c.2152A>G (p.Lys718Glu)
17	g.42544101A>T	CA399606145	NAGLU	c.2095A>T (p.Lys699Ter) c.1433A>T (n.1433A>T) c.1264A>T (p.Lys422Ter) c.1096A>T (p.Lys366Ter) c.2152A>T (p.Lys718Ter)
17	g.42544105dup	CA645588252	NAGLU	c.2099dup (p.Asn700LysfsTer?) c.1437dup (n.1437dup) c.1268dup (p.Asn423LysfsTer?) c.1100dup (p.Asn367LysfsTer?) c.2156dup (p.Asn719LysfsTer?)	COSMIC
17	g.42544105del	CA626218626	NAGLU	c.2099del (p.Asn700MetfsTer?) c.1437del (n.1437del) c.1268del (p.Asn423MetfsTer?) c.1100del (p.Asn367MetfsTer?) c.2156del (p.Asn719MetfsTer?)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.42544102A>C	CA399606147	NAGLU	c.2096A>C (p.Lys699Thr) c.1434A>C (n.1434A>C) c.1265A>C (p.Lys422Thr) c.1097A>C (p.Lys366Thr) c.2153A>C (p.Lys718Thr)
17	g.42544102A>G	CA399606148	NAGLU	c.2096A>G (p.Lys699Arg) c.1434A>G (n.1434A>G) c.1265A>G (p.Lys422Arg) c.1097A>G (p.Lys366Arg) c.2153A>G (p.Lys718Arg)
17	g.42544102A>T	CA399606149	NAGLU	c.2096A>T (p.Lys699Ile) c.1434A>T (n.1434A>T) c.1265A>T (p.Lys422Ile) c.1097A>T (p.Lys366Ile) c.2153A>T (p.Lys718Ile)
17	g.42544103A>C	CA399606150	NAGLU	c.2097A>C (p.Lys699Asn) c.1435A>C (n.1435A>C) c.1266A>C (p.Lys422Asn) c.1098A>C (p.Lys366Asn) c.2154A>C (p.Lys718Asn)
17	g.42544103A>G	CA500217354	NAGLU	c.2097A>G (p.Lys699=) c.1435A>G (n.1435A>G) c.1266A>G (p.Lys422=) c.1098A>G (p.Lys366=) c.2154A>G (p.Lys718=)
17	g.42544103A>T	CA399606151	NAGLU	c.2097A>T (p.Lys699Asn) c.1435A>T (n.1435A>T) c.1266A>T (p.Lys422Asn) c.1098A>T (p.Lys366Asn) c.2154A>T (p.Lys718Asn)
17	g.42544104A>C	CA399606152	NAGLU	c.2098A>C (p.Asn700His) c.1436A>C (n.1436A>C) c.1267A>C (p.Asn423His) c.1099A>C (p.Asn367His) c.2155A>C (p.Asn719His)
17	g.42544104A>G	CA399606153	NAGLU	c.2098A>G (p.Asn700Asp) c.1436A>G (n.1436A>G) c.1267A>G (p.Asn423Asp) c.1099A>G (p.Asn367Asp) c.2155A>G (p.Asn719Asp)
17	g.42544104A>T	CA399606154	NAGLU	c.2098A>T (p.Asn700Tyr) c.1436A>T (n.1436A>T) c.1267A>T (p.Asn423Tyr) c.1099A>T (p.Asn367Tyr) c.2155A>T (p.Asn719Tyr)
17	g.42544105A=	CA2260530612	NAGLU	c.2099A= (p.Asn700=) c.1437A= (n.1437A=) c.1268A= (p.Asn423=) c.1100A= (p.Asn367=) c.2156A= (p.Asn719=)
17	g.42544105A>C	CA399606155	NAGLU	c.2099A>C (p.Asn700Thr) c.1437A>C (n.1437A>C) c.1268A>C (p.Asn423Thr) c.1100A>C (p.Asn367Thr) c.2156A>C (p.Asn719Thr)
17	g.42544105A>G	CA399606156	NAGLU	c.2099A>G (p.Asn700Ser) c.1437A>G (n.1437A>G) c.1268A>G (p.Asn423Ser) c.1100A>G (p.Asn367Ser) c.2156A>G (p.Asn719Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42544105A>T	CA399606157	NAGLU	c.2099A>T (p.Asn700Ile) c.1437A>T (n.1437A>T) c.1268A>T (p.Asn423Ile) c.1100A>T (p.Asn367Ile) c.2156A>T (p.Asn719Ile)
17	g.42544106T>A	CA399606158	NAGLU	c.2100T>A (p.Asn700Lys) c.1438T>A (n.1438T>A) c.1269T>A (p.Asn423Lys) c.1101T>A (p.Asn367Lys) c.2157T>A (p.Asn719Lys)
17	g.42544106T>C	CA500217360	NAGLU	c.2100T>C (p.Asn700=) c.1438T>C (n.1438T>C) c.1269T>C (p.Asn423=) c.1101T>C (p.Asn367=) c.2157T>C (p.Asn719=)	dbSNP gnomAD v4
17	g.42544106T>G	CA399606159	NAGLU	c.2100T>G (p.Asn700Lys) c.1438T>G (n.1438T>G) c.1269T>G (p.Asn423Lys) c.1101T>G (p.Asn367Lys) c.2157T>G (p.Asn719Lys)
17	g.42544106T=	CA2260530613	NAGLU	c.2100T= (p.Asn700=) c.1438T= (n.1438T=) c.1269T= (p.Asn423=) c.1101T= (p.Asn367=) c.2157T= (p.Asn719=)
17	g.42544107_42544108dup	CA2637976284	NAGLU	c.2101_2102dup (p.Phe702SerfsTer?) c.1439_1440dup (n.1439_1440dup) c.1270_1271dup (p.Phe425SerfsTer?) c.1102_1103dup (p.Phe369SerfsTer?) c.2158_2159dup (p.Phe721SerfsTer?)	gnomAD v4
17	g.42544107G>A	CA399606161	NAGLU	c.2101G>A (p.Val701Ile) c.1439G>A (n.1439G>A) c.1270G>A (p.Val424Ile) c.1102G>A (p.Val368Ile) c.2158G>A (p.Val720Ile)
17	g.42544107G>C	CA399606162	NAGLU	c.2101G>C (p.Val701Leu) c.1439G>C (n.1439G>C) c.1270G>C (p.Val424Leu) c.1102G>C (p.Val368Leu) c.2158G>C (p.Val720Leu)
17	g.42544107G>T	CA399606160	NAGLU	c.2101G>T (p.Val701Phe) c.1439G>T (n.1439G>T) c.1270G>T (p.Val424Phe) c.1102G>T (p.Val368Phe) c.2158G>T (p.Val720Phe)
17	g.42544108T>A	CA399606163	NAGLU	c.2102T>A (p.Val701Asp) c.1440T>A (n.1440T>A) c.1271T>A (p.Val424Asp) c.1103T>A (p.Val368Asp) c.2159T>A (p.Val720Asp)
17	g.42544108T>C	CA399606164	NAGLU	c.2102T>C (p.Val701Ala) c.1440T>C (n.1440T>C) c.1271T>C (p.Val424Ala) c.1103T>C (p.Val368Ala) c.2159T>C (p.Val720Ala)
17	g.42544108T>G	CA399606165	NAGLU	c.2102T>G (p.Val701Gly) c.1440T>G (n.1440T>G) c.1271T>G (p.Val424Gly) c.1103T>G (p.Val368Gly) c.2159T>G (p.Val720Gly)
17	g.42544109C>A	CA500217366	NAGLU	c.2103C>A (p.Val701=) c.1441C>A (n.1441C>A) c.1272C>A (p.Val424=) c.1104C>A (p.Val368=) c.2160C>A (p.Val720=)
17	g.42544109C=	CA2260530614	NAGLU	c.2103C= (p.Val701=) c.1441C= (n.1441C=) c.1272C= (p.Val424=) c.1104C= (p.Val368=) c.2160C= (p.Val720=)
17	g.42544109C>G	CA500217367	NAGLU	c.2103C>G (p.Val701=) c.1441C>G (n.1441C>G) c.1272C>G (p.Val424=) c.1104C>G (p.Val368=) c.2160C>G (p.Val720=)
17	g.42544109C>T	CA500217368	NAGLU	c.2103C>T (p.Val701=) c.1441C>T (n.1441C>T) c.1272C>T (p.Val424=) c.1104C>T (p.Val368=) c.2160C>T (p.Val720=)	ClinVar dbSNP
17	g.42544110T>A	CA399606166	NAGLU	c.2104T>A (p.Phe702Ile) c.1442T>A (n.1442T>A) c.1273T>A (p.Phe425Ile) c.1105T>A (p.Phe369Ile) c.2161T>A (p.Phe721Ile)
17	g.42544110T>C	CA399606167	NAGLU	c.2104T>C (p.Phe702Leu) c.1442T>C (n.1442T>C) c.1273T>C (p.Phe425Leu) c.1105T>C (p.Phe369Leu) c.2161T>C (p.Phe721Leu)
17	g.42544110T>G	CA399606168	NAGLU	c.2104T>G (p.Phe702Val) c.1442T>G (n.1442T>G) c.1273T>G (p.Phe425Val) c.1105T>G (p.Phe369Val) c.2161T>G (p.Phe721Val)
17	g.42544111T>A	CA399606171	NAGLU	c.2105T>A (p.Phe702Tyr) c.1443T>A (n.1443T>A) c.1274T>A (p.Phe425Tyr) c.1106T>A (p.Phe369Tyr) c.2162T>A (p.Phe721Tyr)
17	g.42544111T>C	CA399606169	NAGLU	c.2105T>C (p.Phe702Ser) c.1443T>C (n.1443T>C) c.1274T>C (p.Phe425Ser) c.1106T>C (p.Phe369Ser) c.2162T>C (p.Phe721Ser)
17	g.42544111T>G	CA399606170	NAGLU	c.2105T>G (p.Phe702Cys) c.1443T>G (n.1443T>G) c.1274T>G (p.Phe425Cys) c.1106T>G (p.Phe369Cys) c.2162T>G (p.Phe721Cys)
17	g.42544112C>A	CA399606172	NAGLU	c.2106C>A (p.Phe702Leu) c.1444C>A (n.1444C>A) c.1275C>A (p.Phe425Leu) c.1107C>A (p.Phe369Leu) c.2163C>A (p.Phe721Leu)
17	g.42544112C=	CA2260530615	NAGLU	c.2106C= (p.Phe702=) c.1444C= (n.1444C=) c.1275C= (p.Phe425=) c.1107C= (p.Phe369=) c.2163C= (p.Phe721=)
17	g.42544112C>G	CA399606173	NAGLU	c.2106C>G (p.Phe702Leu) c.1444C>G (n.1444C>G) c.1275C>G (p.Phe425Leu) c.1107C>G (p.Phe369Leu) c.2163C>G (p.Phe721Leu)
17	g.42544112C>T	CA500217376	NAGLU	c.2106C>T (p.Phe702=) c.1444C>T (n.1444C>T) c.1275C>T (p.Phe425=) c.1107C>T (p.Phe369=) c.2163C>T (p.Phe721=)	ClinVar dbSNP
17	g.42544113C>A	CA399606174	NAGLU	c.2107C>A (p.Gln703Lys) c.1445C>A (n.1445C>A) c.1276C>A (p.Gln426Lys) c.1108C>A (p.Gln370Lys) c.2164C>A (p.Gln722Lys)
17	g.42544113C>G	CA399606175	NAGLU	c.2107C>G (p.Gln703Glu) c.1445C>G (n.1445C>G) c.1276C>G (p.Gln426Glu) c.1108C>G (p.Gln370Glu) c.2164C>G (p.Gln722Glu)
17	g.42544113C>T	CA399606176	NAGLU	c.2107C>T (p.Gln703Ter) c.1445C>T (n.1445C>T) c.1276C>T (p.Gln426Ter) c.1108C>T (p.Gln370Ter) c.2164C>T (p.Gln722Ter)
17	g.42544113_42544119del	CA2637976285	NAGLU	c.2107_2113del (p.Gln703SerfsTer?) c.1445_1451del (n.1445_1451del) c.1276_1282del (p.Gln426SerfsTer?) c.1108_1114del (p.Gln370SerfsTer?) c.2164_2170del (p.Gln722SerfsTer?)	gnomAD v4

Number of alleles fetched