Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.42543985A>C	CA399605719	NAGLU	c.1979A>C (p.Asn660Thr) c.1317A>C (n.1317A>C) c.1148A>C (p.Asn383Thr) c.980A>C (p.Asn327Thr) c.2036A>C (p.Asn679Thr)
17	g.42543985A>G	CA399605720	NAGLU	c.1979A>G (p.Asn660Ser) c.1317A>G (n.1317A>G) c.1148A>G (p.Asn383Ser) c.980A>G (p.Asn327Ser) c.2036A>G (p.Asn679Ser)	gnomAD v4
17	g.42543985A>T	CA399605722	NAGLU	c.1979A>T (p.Asn660Ile) c.1317A>T (n.1317A>T) c.1148A>T (p.Asn383Ile) c.980A>T (p.Asn327Ile) c.2036A>T (p.Asn679Ile)
17	g.42543986C>A	CA399605724	NAGLU	c.1980C>A (p.Asn660Lys) c.1318C>A (n.1318C>A) c.1149C>A (p.Asn383Lys) c.981C>A (p.Asn327Lys) c.2037C>A (p.Asn679Lys)	ClinVar dbSNP gnomAD v4
17	g.42543986C=	CA2260530555	NAGLU	c.1980C= (p.Asn660=) c.1318C= (n.1318C=) c.1149C= (p.Asn383=) c.981C= (p.Asn327=) c.2037C= (p.Asn679=)
17	g.42543986C>G	CA399605726	NAGLU	c.1980C>G (p.Asn660Lys) c.1318C>G (n.1318C>G) c.1149C>G (p.Asn383Lys) c.981C>G (p.Asn327Lys) c.2037C>G (p.Asn679Lys)
17	g.42543986C>T	CA290781159	NAGLU	c.1980C>T (p.Asn660=) c.1318C>T (n.1318C>T) c.1149C>T (p.Asn383=) c.981C>T (p.Asn327=) c.2037C>T (p.Asn679=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543987A>C	CA399605727	NAGLU	c.1981A>C (p.Lys661Gln) c.1319A>C (n.1319A>C) c.1150A>C (p.Lys384Gln) c.982A>C (p.Lys328Gln) c.2038A>C (p.Lys680Gln)
17	g.42543987A>G	CA399605732	NAGLU	c.1981A>G (p.Lys661Glu) c.1319A>G (n.1319A>G) c.1150A>G (p.Lys384Glu) c.982A>G (p.Lys328Glu) c.2038A>G (p.Lys680Glu)
17	g.42543987A>T	CA399605729	NAGLU	c.1981A>T (p.Lys661Ter) c.1319A>T (n.1319A>T) c.1150A>T (p.Lys384Ter) c.982A>T (p.Lys328Ter) c.2038A>T (p.Lys680Ter)
17	g.42543988A>C	CA399605733	NAGLU	c.1982A>C (p.Lys661Thr) c.1320A>C (n.1320A>C) c.1151A>C (p.Lys384Thr) c.983A>C (p.Lys328Thr) c.2039A>C (p.Lys680Thr)
17	g.42543988A>G	CA399605735	NAGLU	c.1982A>G (p.Lys661Arg) c.1320A>G (n.1320A>G) c.1151A>G (p.Lys384Arg) c.983A>G (p.Lys328Arg) c.2039A>G (p.Lys680Arg)
17	g.42543988A>T	CA399605737	NAGLU	c.1982A>T (p.Lys661Met) c.1320A>T (n.1320A>T) c.1151A>T (p.Lys384Met) c.983A>T (p.Lys328Met) c.2039A>T (p.Lys680Met)
17	g.42543989G>A	CA8577126	NAGLU	c.1983G>A (p.Lys661=) c.1321G>A (n.1321G>A) c.1152G>A (p.Lys384=) c.984G>A (p.Lys328=) c.2040G>A (p.Lys680=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543989G>C	CA399605740	NAGLU	c.1983G>C (p.Lys661Asn) c.1321G>C (n.1321G>C) c.1152G>C (p.Lys384Asn) c.984G>C (p.Lys328Asn) c.2040G>C (p.Lys680Asn)
17	g.42543989G=	CA2260530556	NAGLU	c.1983G= (p.Lys661=) c.1321G= (n.1321G=) c.1152G= (p.Lys384=) c.984G= (p.Lys328=) c.2040G= (p.Lys680=)
17	g.42543989G>T	CA399605742	NAGLU	c.1983G>T (p.Lys661Asn) c.1321G>T (n.1321G>T) c.1152G>T (p.Lys384Asn) c.984G>T (p.Lys328Asn) c.2040G>T (p.Lys680Asn)
17	g.42543990C>A	CA399605744	NAGLU	c.1984C>A (p.Gln662Lys) c.1322C>A (n.1322C>A) c.1153C>A (p.Gln385Lys) c.985C>A (p.Gln329Lys) c.2041C>A (p.Gln681Lys)
17	g.42543990C=	CA2260530557	NAGLU	c.1984C= (p.Gln662=) c.1322C= (n.1322C=) c.1153C= (p.Gln385=) c.985C= (p.Gln329=) c.2041C= (p.Gln681=)
17	g.42543990C>G	CA399605745	NAGLU	c.1984C>G (p.Gln662Glu) c.1322C>G (n.1322C>G) c.1153C>G (p.Gln385Glu) c.985C>G (p.Gln329Glu) c.2041C>G (p.Gln681Glu)	gnomAD v4
17	g.42543990C>T	CA399605747	NAGLU	c.1984C>T (p.Gln662Ter) c.1322C>T (n.1322C>T) c.1153C>T (p.Gln385Ter) c.985C>T (p.Gln329Ter) c.2041C>T (p.Gln681Ter)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543991A>C	CA399605749	NAGLU	c.1985A>C (p.Gln662Pro) c.1323A>C (n.1323A>C) c.1154A>C (p.Gln385Pro) c.986A>C (p.Gln329Pro) c.2042A>C (p.Gln681Pro)
17	g.42543991A>G	CA399605751	NAGLU	c.1985A>G (p.Gln662Arg) c.1323A>G (n.1323A>G) c.1154A>G (p.Gln385Arg) c.986A>G (p.Gln329Arg) c.2042A>G (p.Gln681Arg)
17	g.42543991A>T	CA399605753	NAGLU	c.1985A>T (p.Gln662Leu) c.1323A>T (n.1323A>T) c.1154A>T (p.Gln385Leu) c.986A>T (p.Gln329Leu) c.2042A>T (p.Gln681Leu)
17	g.42543992G>A	CA500217100	NAGLU	c.1986G>A (p.Gln662=) c.1324G>A (n.1324G>A) c.1155G>A (p.Gln385=) c.987G>A (p.Gln329=) c.2043G>A (p.Gln681=)
17	g.42543992G>C	CA399605754	NAGLU	c.1986G>C (p.Gln662His) c.1324G>C (n.1324G>C) c.1155G>C (p.Gln385His) c.987G>C (p.Gln329His) c.2043G>C (p.Gln681His)
17	g.42543992G>T	CA399605756	NAGLU	c.1986G>T (p.Gln662His) c.1324G>T (n.1324G>T) c.1155G>T (p.Gln385His) c.987G>T (p.Gln329His) c.2043G>T (p.Gln681His)
17	g.42543993C>A	CA399605757	NAGLU	c.1987C>A (p.Leu663Met) c.1325C>A (n.1325C>A) c.1156C>A (p.Leu386Met) c.988C>A (p.Leu330Met) c.2044C>A (p.Leu682Met)
17	g.42543993C=	CA2260530558	NAGLU	c.1987C= (p.Leu663=) c.1325C= (n.1325C=) c.1156C= (p.Leu386=) c.988C= (p.Leu330=) c.2044C= (p.Leu682=)
17	g.42543993C>G	CA399605758	NAGLU	c.1987C>G (p.Leu663Val) c.1325C>G (n.1325C>G) c.1156C>G (p.Leu386Val) c.988C>G (p.Leu330Val) c.2044C>G (p.Leu682Val)	dbSNP gnomAD v2 gnomAD v4
17	g.42543993C>T	CA500217102	NAGLU	c.1987C>T (p.Leu663=) c.1325C>T (n.1325C>T) c.1156C>T (p.Leu386=) c.988C>T (p.Leu330=) c.2044C>T (p.Leu682=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.42543994T>A	CA399605760	NAGLU	c.1988T>A (p.Leu663Gln) c.1326T>A (n.1326T>A) c.1157T>A (p.Leu386Gln) c.989T>A (p.Leu330Gln) c.2045T>A (p.Leu682Gln)
17	g.42543994T>C	CA399605762	NAGLU	c.1988T>C (p.Leu663Pro) c.1326T>C (n.1326T>C) c.1157T>C (p.Leu386Pro) c.989T>C (p.Leu330Pro) c.2045T>C (p.Leu682Pro)
17	g.42543994T>G	CA399605763	NAGLU	c.1988T>G (p.Leu663Arg) c.1326T>G (n.1326T>G) c.1157T>G (p.Leu386Arg) c.989T>G (p.Leu330Arg) c.2045T>G (p.Leu682Arg)	dbSNP
17	g.42543994T=	CA2260530559	NAGLU	c.1988T= (p.Leu663=) c.1326T= (n.1326T=) c.1157T= (p.Leu386=) c.989T= (p.Leu330=) c.2045T= (p.Leu682=)
17	g.42543995G>A	CA500217107	NAGLU	c.1989G>A (p.Leu663=) c.1327G>A (n.1327G>A) c.1158G>A (p.Leu386=) c.990G>A (p.Leu330=) c.2046G>A (p.Leu682=)
17	g.42543995G>C	CA500217105	NAGLU	c.1989G>C (p.Leu663=) c.1327G>C (n.1327G>C) c.1158G>C (p.Leu386=) c.990G>C (p.Leu330=) c.2046G>C (p.Leu682=)
17	g.42543995G>T	CA500217106	NAGLU	c.1989G>T (p.Leu663=) c.1327G>T (n.1327G>T) c.1158G>T (p.Leu386=) c.990G>T (p.Leu330=) c.2046G>T (p.Leu682=)
17	g.42543996G>A	CA399605766	NAGLU	c.1990G>A (p.Ala664Thr) c.1328G>A (n.1328G>A) c.1159G>A (p.Ala387Thr) c.991G>A (p.Ala331Thr) c.2047G>A (p.Ala683Thr)
17	g.42543996G>C	CA399605767	NAGLU	c.1990G>C (p.Ala664Pro) c.1328G>C (n.1328G>C) c.1159G>C (p.Ala387Pro) c.991G>C (p.Ala331Pro) c.2047G>C (p.Ala683Pro)
17	g.42543996G>T	CA399605769	NAGLU	c.1990G>T (p.Ala664Ser) c.1328G>T (n.1328G>T) c.1159G>T (p.Ala387Ser) c.991G>T (p.Ala331Ser) c.2047G>T (p.Ala683Ser)
17	g.42543997_42543998del	CA913012295	NAGLU	c.1991_1992del (p.Ala664GlyfsTer20) c.1329_1330del (n.1329_1330del) c.1160_1161del (p.Ala387GlyfsTer20) c.992_993del (p.Ala331GlyfsTer20) c.2048_2049del (p.Ala683GlyfsTer20)
17	g.42543997C>A	CA399605771	NAGLU	c.1991C>A (p.Ala664Glu) c.1329C>A (n.1329C>A) c.1160C>A (p.Ala387Glu) c.992C>A (p.Ala331Glu) c.2048C>A (p.Ala683Glu)
17	g.42543997C=	CA2260530560	NAGLU	c.1991C= (p.Ala664=) c.1329C= (n.1329C=) c.1160C= (p.Ala387=) c.992C= (p.Ala331=) c.2048C= (p.Ala683=)
17	g.42543997C>G	CA399605773	NAGLU	c.1991C>G (p.Ala664Gly) c.1329C>G (n.1329C>G) c.1160C>G (p.Ala387Gly) c.992C>G (p.Ala331Gly) c.2048C>G (p.Ala683Gly)
17	g.42543997C>T	CA8577127	NAGLU	c.1991C>T (p.Ala664Val) c.1329C>T (n.1329C>T) c.1160C>T (p.Ala387Val) c.992C>T (p.Ala331Val) c.2048C>T (p.Ala683Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543997_42543998delinsCG	CA2260530561	NAGLU	c.1991_1992delinsCG (p.Ala664=) c.1329_1330delinsCG (n.1329_1330delinsCG) c.1160_1161delinsCG (p.Ala387=) c.992_993delinsCG (p.Ala331=) c.2048_2049delinsCG (p.Ala683=)
17	g.42543998G>A	CA290781165	NAGLU	c.1992G>A (p.Ala664=) c.1330G>A (n.1330G>A) c.1161G>A (p.Ala387=) c.993G>A (p.Ala331=) c.2049G>A (p.Ala683=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543998G>C	CA500217109	NAGLU	c.1992G>C (p.Ala664=) c.1330G>C (n.1330G>C) c.1161G>C (p.Ala387=) c.993G>C (p.Ala331=) c.2049G>C (p.Ala683=)
17	g.42543998G=	CA2260530562	NAGLU	c.1992G= (p.Ala664=) c.1330G= (n.1330G=) c.1161G= (p.Ala387=) c.993G= (p.Ala331=) c.2049G= (p.Ala683=)
17	g.42543998G>T	CA500217108	NAGLU	c.1992G>T (p.Ala664=) c.1330G>T (n.1330G>T) c.1161G>T (p.Ala387=) c.993G>T (p.Ala331=) c.2049G>T (p.Ala683=)
17	g.42544001del	CA658823967	NAGLU	c.1995del (p.Leu666TrpfsTer?) c.1333del (n.1333del) c.1164del (p.Leu389TrpfsTer?) c.996del (p.Leu333TrpfsTer?) c.2052del (p.Leu685TrpfsTer?)	ClinVar dbSNP gnomAD v4
17	g.42543999G>A	CA399605774	NAGLU	c.1993G>A (p.Gly665Arg) c.1331G>A (n.1331G>A) c.1162G>A (p.Gly388Arg) c.994G>A (p.Gly332Arg) c.2050G>A (p.Gly684Arg)
17	g.42543999G>C	CA399605778	NAGLU	c.1993G>C (p.Gly665Arg) c.1331G>C (n.1331G>C) c.1162G>C (p.Gly388Arg) c.994G>C (p.Gly332Arg) c.2050G>C (p.Gly684Arg)
17	g.42543999G>T	CA399605776	NAGLU	c.1993G>T (p.Gly665Trp) c.1331G>T (n.1331G>T) c.1162G>T (p.Gly388Trp) c.994G>T (p.Gly332Trp) c.2050G>T (p.Gly684Trp)	gnomAD v4
17	g.42544000G>A	CA399605779	NAGLU	c.1994G>A (p.Gly665Glu) c.1332G>A (n.1332G>A) c.1163G>A (p.Gly388Glu) c.995G>A (p.Gly332Glu) c.2051G>A (p.Gly684Glu)
17	g.42544000G>C	CA399605782	NAGLU	c.1994G>C (p.Gly665Ala) c.1332G>C (n.1332G>C) c.1163G>C (p.Gly388Ala) c.995G>C (p.Gly332Ala) c.2051G>C (p.Gly684Ala)
17	g.42544000G>T	CA399605781	NAGLU	c.1994G>T (p.Gly665Val) c.1332G>T (n.1332G>T) c.1163G>T (p.Gly388Val) c.995G>T (p.Gly332Val) c.2051G>T (p.Gly684Val)
17	g.42544001G>A	CA500217115	NAGLU	c.1995G>A (p.Gly665=) c.1333G>A (n.1333G>A) c.1164G>A (p.Gly388=) c.996G>A (p.Gly332=) c.2052G>A (p.Gly684=)
17	g.42544001G>C	CA500217113	NAGLU	c.1995G>C (p.Gly665=) c.1333G>C (n.1333G>C) c.1164G>C (p.Gly388=) c.996G>C (p.Gly332=) c.2052G>C (p.Gly684=)
17	g.42544001G=	CA2260530563	NAGLU	c.1995G= (p.Gly665=) c.1333G= (n.1333G=) c.1164G= (p.Gly388=) c.996G= (p.Gly332=) c.2052G= (p.Gly684=)
17	g.42544001G>T	CA8577128	NAGLU	c.1995G>T (p.Gly665=) c.1333G>T (n.1333G>T) c.1164G>T (p.Gly388=) c.996G>T (p.Gly332=) c.2052G>T (p.Gly684=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.42544002T>A	CA399605786	NAGLU	c.1996T>A (p.Leu666Met) c.1334T>A (n.1334T>A) c.1165T>A (p.Leu389Met) c.997T>A (p.Leu333Met) c.2053T>A (p.Leu685Met)
17	g.42544002T>C	CA500217118	NAGLU	c.1996T>C (p.Leu666=) c.1334T>C (n.1334T>C) c.1165T>C (p.Leu389=) c.997T>C (p.Leu333=) c.2053T>C (p.Leu685=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42544002T>G	CA399605787	NAGLU	c.1996T>G (p.Leu666Val) c.1334T>G (n.1334T>G) c.1165T>G (p.Leu389Val) c.997T>G (p.Leu333Val) c.2053T>G (p.Leu685Val)	dbSNP
17	g.42544002T=	CA2260530564	NAGLU	c.1996T= (p.Leu666=) c.1334T= (n.1334T=) c.1165T= (p.Leu389=) c.997T= (p.Leu333=) c.2053T= (p.Leu685=)
17	g.42544003T>A	CA399605790	NAGLU	c.1997T>A (p.Leu666Ter) c.1335T>A (n.1335T>A) c.1166T>A (p.Leu389Ter) c.998T>A (p.Leu333Ter) c.2054T>A (p.Leu685Ter)
17	g.42544003T>C	CA399605791	NAGLU	c.1997T>C (p.Leu666Ser) c.1335T>C (n.1335T>C) c.1166T>C (p.Leu389Ser) c.998T>C (p.Leu333Ser) c.2054T>C (p.Leu685Ser)
17	g.42544003T>G	CA399605793	NAGLU	c.1997T>G (p.Leu666Trp) c.1335T>G (n.1335T>G) c.1166T>G (p.Leu389Trp) c.998T>G (p.Leu333Trp) c.2054T>G (p.Leu685Trp)
17	g.42544004G>A	CA500217122	NAGLU	c.1998G>A (p.Leu666=) c.1336G>A (n.1336G>A) c.1167G>A (p.Leu389=) c.999G>A (p.Leu333=) c.2055G>A (p.Leu685=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.42544004G>C	CA399605796	NAGLU	c.1998G>C (p.Leu666Phe) c.1336G>C (n.1336G>C) c.1167G>C (p.Leu389Phe) c.999G>C (p.Leu333Phe) c.2055G>C (p.Leu685Phe)
17	g.42544004G=	CA2260530565	NAGLU	c.1998G= (p.Leu666=) c.1336G= (n.1336G=) c.1167G= (p.Leu389=) c.999G= (p.Leu333=) c.2055G= (p.Leu685=)
17	g.42544004G>T	CA399605797	NAGLU	c.1998G>T (p.Leu666Phe) c.1336G>T (n.1336G>T) c.1167G>T (p.Leu389Phe) c.999G>T (p.Leu333Phe) c.2055G>T (p.Leu685Phe)	dbSNP
17	g.42544005G>A	CA399605799	NAGLU	c.1999G>A (p.Val667Met) c.1337G>A (n.1337G>A) c.1168G>A (p.Val390Met) c.1000G>A (p.Val334Met) c.2056G>A (p.Val686Met)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42544005G>C	CA399605801	NAGLU	c.1999G>C (p.Val667Leu) c.1337G>C (n.1337G>C) c.1168G>C (p.Val390Leu) c.1000G>C (p.Val334Leu) c.2056G>C (p.Val686Leu)
17	g.42544005G=	CA2260530566	NAGLU	c.1999G= (p.Val667=) c.1337G= (n.1337G=) c.1168G= (p.Val390=) c.1000G= (p.Val334=) c.2056G= (p.Val686=)
17	g.42544005G>T	CA399605803	NAGLU	c.1999G>T (p.Val667Leu) c.1337G>T (n.1337G>T) c.1168G>T (p.Val390Leu) c.1000G>T (p.Val334Leu) c.2056G>T (p.Val686Leu)
17	g.42544006T>A	CA399605808	NAGLU	c.2000T>A (p.Val667Glu) c.1338T>A (n.1338T>A) c.1169T>A (p.Val390Glu) c.1001T>A (p.Val334Glu) c.2057T>A (p.Val686Glu)
17	g.42544006T>C	CA399605806	NAGLU	c.2000T>C (p.Val667Ala) c.1338T>C (n.1338T>C) c.1169T>C (p.Val390Ala) c.1001T>C (p.Val334Ala) c.2057T>C (p.Val686Ala)
17	g.42544006T>G	CA399605805	NAGLU	c.2000T>G (p.Val667Gly) c.1338T>G (n.1338T>G) c.1169T>G (p.Val390Gly) c.1001T>G (p.Val334Gly) c.2057T>G (p.Val686Gly)
17	g.42544007G>A	CA500217128	NAGLU	c.2001G>A (p.Val667=) c.1339G>A (n.1339G>A) c.1170G>A (p.Val390=) c.1002G>A (p.Val334=) c.2058G>A (p.Val686=)	ClinVar dbSNP gnomAD v4
17	g.42544007G>C	CA500217126	NAGLU	c.2001G>C (p.Val667=) c.1339G>C (n.1339G>C) c.1170G>C (p.Val390=) c.1002G>C (p.Val334=) c.2058G>C (p.Val686=)
17	g.42544007G=	CA2260530567	NAGLU	c.2001G= (p.Val667=) c.1339G= (n.1339G=) c.1170G= (p.Val390=) c.1002G= (p.Val334=) c.2058G= (p.Val686=)
17	g.42544007G>T	CA500217130	NAGLU	c.2001G>T (p.Val667=) c.1339G>T (n.1339G>T) c.1170G>T (p.Val390=) c.1002G>T (p.Val334=) c.2058G>T (p.Val686=)
17	g.42544008G>A	CA399605810	NAGLU	c.2002G>A (p.Ala668Thr) c.1340G>A (n.1340G>A) c.1171G>A (p.Ala391Thr) c.1003G>A (p.Ala335Thr) c.2059G>A (p.Ala687Thr)	gnomAD v4
17	g.42544008G>C	CA399605812	NAGLU	c.2002G>C (p.Ala668Pro) c.1340G>C (n.1340G>C) c.1171G>C (p.Ala391Pro) c.1003G>C (p.Ala335Pro) c.2059G>C (p.Ala687Pro)
17	g.42544008G>T	CA399605813	NAGLU	c.2002G>T (p.Ala668Ser) c.1340G>T (n.1340G>T) c.1171G>T (p.Ala391Ser) c.1003G>T (p.Ala335Ser) c.2059G>T (p.Ala687Ser)
17	g.42544009C>A	CA399605816	NAGLU	c.2003C>A (p.Ala668Asp) c.1341C>A (n.1341C>A) c.1172C>A (p.Ala391Asp) c.1004C>A (p.Ala335Asp) c.2060C>A (p.Ala687Asp)
17	g.42544009C=	CA2260530568	NAGLU	c.2003C= (p.Ala668=) c.1341C= (n.1341C=) c.1172C= (p.Ala391=) c.1004C= (p.Ala335=) c.2060C= (p.Ala687=)
17	g.42544009C>G	CA399605817	NAGLU	c.2003C>G (p.Ala668Gly) c.1341C>G (n.1341C>G) c.1172C>G (p.Ala391Gly) c.1004C>G (p.Ala335Gly) c.2060C>G (p.Ala687Gly)
17	g.42544009C>T	CA399605819	NAGLU	c.2003C>T (p.Ala668Val) c.1341C>T (n.1341C>T) c.1172C>T (p.Ala391Val) c.1004C>T (p.Ala335Val) c.2060C>T (p.Ala687Val)	dbSNP gnomAD v3 gnomAD v4
17	g.42544010C>A	CA500217135	NAGLU	c.2004C>A (p.Ala668=) c.1342C>A (n.1342C>A) c.1173C>A (p.Ala391=) c.1005C>A (p.Ala335=) c.2061C>A (p.Ala687=)	ClinVar
17	g.42544010C=	CA2260530569	NAGLU	c.2004C= (p.Ala668=) c.1342C= (n.1342C=) c.1173C= (p.Ala391=) c.1005C= (p.Ala335=) c.2061C= (p.Ala687=)
17	g.42544010C>G	CA500217133	NAGLU	c.2004C>G (p.Ala668=) c.1342C>G (n.1342C>G) c.1173C>G (p.Ala391=) c.1005C>G (p.Ala335=) c.2061C>G (p.Ala687=)
17	g.42544010C>T	CA500217134	NAGLU	c.2004C>T (p.Ala668=) c.1342C>T (n.1342C>T) c.1173C>T (p.Ala391=) c.1005C>T (p.Ala335=) c.2061C>T (p.Ala687=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.42544011A=	CA2260530570	NAGLU	c.2005A= (p.Asn669=) c.1343A= (n.1343A=) c.1174A= (p.Asn392=) c.1006A= (p.Asn336=) c.2062A= (p.Asn688=)
17	g.42544011A>C	CA399605822	NAGLU	c.2005A>C (p.Asn669His) c.1343A>C (n.1343A>C) c.1174A>C (p.Asn392His) c.1006A>C (p.Asn336His) c.2062A>C (p.Asn688His)
17	g.42544011A>G	CA399605823	NAGLU	c.2005A>G (p.Asn669Asp) c.1343A>G (n.1343A>G) c.1174A>G (p.Asn392Asp) c.1006A>G (p.Asn336Asp) c.2062A>G (p.Asn688Asp)	dbSNP gnomAD v2 gnomAD v4
17	g.42544011A>T	CA399605825	NAGLU	c.2005A>T (p.Asn669Tyr) c.1343A>T (n.1343A>T) c.1174A>T (p.Asn392Tyr) c.1006A>T (p.Asn336Tyr) c.2062A>T (p.Asn688Tyr)
17	g.42544012A>C	CA399605827	NAGLU	c.2006A>C (p.Asn669Thr) c.1344A>C (n.1344A>C) c.1175A>C (p.Asn392Thr) c.1007A>C (p.Asn336Thr) c.2063A>C (p.Asn688Thr)
17	g.42544012A>G	CA399605828	NAGLU	c.2006A>G (p.Asn669Ser) c.1344A>G (n.1344A>G) c.1175A>G (p.Asn392Ser) c.1007A>G (p.Asn336Ser) c.2063A>G (p.Asn688Ser)	gnomAD v4
17	g.42544012A>T	CA399605830	NAGLU	c.2006A>T (p.Asn669Ile) c.1344A>T (n.1344A>T) c.1175A>T (p.Asn392Ile) c.1007A>T (p.Asn336Ile) c.2063A>T (p.Asn688Ile)
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)

Number of alleles fetched