Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.42543258G>A	CA399601597	NAGLU	c.1252G>A (p.Gly418Arg) c.590G>A (n.590G>A) c.291G>A c.421G>A (p.Gly141Arg) c.253G>A (p.Gly85Arg) c.1309G>A (p.Gly437Arg)
17	g.42543258G>C	CA399601600	NAGLU	c.1252G>C (p.Gly418Arg) c.590G>C (n.590G>C) c.291G>C c.421G>C (p.Gly141Arg) c.253G>C (p.Gly85Arg) c.1309G>C (p.Gly437Arg)
17	g.42543258G>T	CA399601598	NAGLU	c.1252G>T (p.Gly418Ter) c.590G>T (n.590G>T) c.291G>T c.421G>T (p.Gly141Ter) c.253G>T (p.Gly85Ter) c.1309G>T (p.Gly437Ter)
17	g.42543259G>A	CA399601603	NAGLU	c.1253G>A (p.Gly418Glu) c.591G>A (n.591G>A) c.292G>A c.422G>A (p.Gly141Glu) c.254G>A (p.Gly85Glu) c.1310G>A (p.Gly437Glu)
17	g.42543259G>C	CA399601607	NAGLU	c.1253G>C (p.Gly418Ala) c.591G>C (n.591G>C) c.292G>C c.422G>C (p.Gly141Ala) c.254G>C (p.Gly85Ala) c.1310G>C (p.Gly437Ala)	COSMIC
17	g.42543259G>T	CA399601605	NAGLU	c.1253G>T (p.Gly418Val) c.591G>T (n.591G>T) c.292G>T c.422G>T (p.Gly141Val) c.254G>T (p.Gly85Val) c.1310G>T (p.Gly437Val)
17	g.42543260A=	CA2260530182	NAGLU	c.1254A= (p.Gly418=) c.592A= (n.592A=) c.293A= c.423A= (p.Gly141=) c.255A= (p.Gly85=) c.1311A= (p.Gly437=)
17	g.42543260A>C	CA500216832	NAGLU	c.1254A>C (p.Gly418=) c.592A>C (n.592A>C) c.293A>C c.423A>C (p.Gly141=) c.255A>C (p.Gly85=) c.1311A>C (p.Gly437=)
17	g.42543260A>G	CA500216833	NAGLU	c.1254A>G (p.Gly418=) c.592A>G (n.592A>G) c.293A>G c.423A>G (p.Gly141=) c.255A>G (p.Gly85=) c.1311A>G (p.Gly437=)
17	g.42543260A>T	CA8576985	NAGLU	c.1254A>T (p.Gly418=) c.592A>T (n.592A>T) c.293A>T c.423A>T (p.Gly141=) c.255A>T (p.Gly85=) c.1311A>T (p.Gly437=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543260_42543264del	CA2531759351	NAGLU	c.1254_1258del (p.Ala419ArgfsTer?) c.592_596del (n.592_596del) c.293_297del c.423_427del (p.Ala142ArgfsTer?) c.255_259del (p.Ala86ArgfsTer?) c.1311_1315del (p.Ala438ArgfsTer?)
17	g.42543261G>A	CA399601609	NAGLU	c.1255G>A (p.Ala419Thr) c.593G>A (n.593G>A) c.294G>A c.424G>A (p.Ala142Thr) c.256G>A (p.Ala86Thr) c.1312G>A (p.Ala438Thr)
17	g.42543261G>C	CA399601611	NAGLU	c.1255G>C (p.Ala419Pro) c.593G>C (n.593G>C) c.294G>C c.424G>C (p.Ala142Pro) c.256G>C (p.Ala86Pro) c.1312G>C (p.Ala438Pro)
17	g.42543261G>T	CA399601613	NAGLU	c.1255G>T (p.Ala419Ser) c.593G>T (n.593G>T) c.294G>T c.424G>T (p.Ala142Ser) c.256G>T (p.Ala86Ser) c.1312G>T (p.Ala438Ser)
17	g.42543261_42543262delinsGC	CA2260530183	NAGLU	c.1255_1256delinsGC (p.Ala419=) c.593_594delinsGC (n.593_594delinsGC) c.294_295delinsGC c.424_425delinsGC (p.Ala142=) c.256_257delinsGC (p.Ala86=) c.1312_1313delinsGC (p.Ala438=)
17	g.42543262C>A	CA399601620	NAGLU	c.1256C>A (p.Ala419Asp) c.594C>A (n.594C>A) c.295C>A c.425C>A (p.Ala142Asp) c.257C>A (p.Ala86Asp) c.1313C>A (p.Ala438Asp)
17	g.42543262C>G	CA399601618	NAGLU	c.1256C>G (p.Ala419Gly) c.594C>G (n.594C>G) c.295C>G c.425C>G (p.Ala142Gly) c.257C>G (p.Ala86Gly) c.1313C>G (p.Ala438Gly)
17	g.42543262C>T	CA399601616	NAGLU	c.1256C>T (p.Ala419Val) c.594C>T (n.594C>T) c.295C>T c.425C>T (p.Ala142Val) c.257C>T (p.Ala86Val) c.1313C>T (p.Ala438Val)
17	g.42543264del	CA290780263	NAGLU	c.1258del (p.Leu420Ter) c.596del (n.596del) c.297del c.427del (p.Leu143Ter) c.259del (p.Leu87Ter) c.1315del (p.Leu439Ter)	dbSNP
17	g.42543263C>A	CA500216836	NAGLU	c.1257C>A (p.Ala419=) c.595C>A (n.595C>A) c.296C>A c.426C>A (p.Ala142=) c.258C>A (p.Ala86=) c.1314C>A (p.Ala438=)
17	g.42543263C>G	CA500216834	NAGLU	c.1257C>G (p.Ala419=) c.595C>G (n.595C>G) c.296C>G c.426C>G (p.Ala142=) c.258C>G (p.Ala86=) c.1314C>G (p.Ala438=)
17	g.42543263C>T	CA500216835	NAGLU	c.1257C>T (p.Ala419=) c.595C>T (n.595C>T) c.296C>T c.426C>T (p.Ala142=) c.258C>T (p.Ala86=) c.1314C>T (p.Ala438=)	ClinVar dbSNP
17	g.42543264C>A	CA399601622	NAGLU	c.1258C>A (p.Leu420Ile) c.596C>A (n.596C>A) c.297C>A c.427C>A (p.Leu143Ile) c.259C>A (p.Leu87Ile) c.1315C>A (p.Leu439Ile)
17	g.42543264C>G	CA399601623	NAGLU	c.1258C>G (p.Leu420Val) c.596C>G (n.596C>G) c.297C>G c.427C>G (p.Leu143Val) c.259C>G (p.Leu87Val) c.1315C>G (p.Leu439Val)	gnomAD v4
17	g.42543264C>T	CA500216837	NAGLU	c.1258C>T (p.Leu420=) c.596C>T (n.596C>T) c.297C>T c.427C>T (p.Leu143=) c.259C>T (p.Leu87=) c.1315C>T (p.Leu439=)
17	g.42543265T>A	CA399601625	NAGLU	c.1259T>A (p.Leu420Gln) c.597T>A (n.597T>A) c.298T>A c.428T>A (p.Leu143Gln) c.260T>A (p.Leu87Gln) c.1316T>A (p.Leu439Gln)
17	g.42543265T>C	CA399601627	NAGLU	c.1259T>C (p.Leu420Pro) c.597T>C (n.597T>C) c.298T>C c.428T>C (p.Leu143Pro) c.260T>C (p.Leu87Pro) c.1316T>C (p.Leu439Pro)
17	g.42543265T>G	CA399601629	NAGLU	c.1259T>G (p.Leu420Arg) c.597T>G (n.597T>G) c.298T>G c.428T>G (p.Leu143Arg) c.260T>G (p.Leu87Arg) c.1316T>G (p.Leu439Arg)
17	g.42543266A=	CA2260530184	NAGLU	c.1260A= (p.Leu420=) c.598A= (n.598A=) c.299A= c.429A= (p.Leu143=) c.261A= (p.Leu87=) c.1317A= (p.Leu439=)
17	g.42543266A>C	CA500216839	NAGLU	c.1260A>C (p.Leu420=) c.598A>C (n.598A>C) c.299A>C c.429A>C (p.Leu143=) c.261A>C (p.Leu87=) c.1317A>C (p.Leu439=)
17	g.42543266A>G	CA8576986	NAGLU	c.1260A>G (p.Leu420=) c.598A>G (n.598A>G) c.299A>G c.429A>G (p.Leu143=) c.261A>G (p.Leu87=) c.1317A>G (p.Leu439=)	dbSNP ExAC gnomAD v4
17	g.42543266A>T	CA500216838	NAGLU	c.1260A>T (p.Leu420=) c.598A>T (n.598A>T) c.299A>T c.429A>T (p.Leu143=) c.261A>T (p.Leu87=) c.1317A>T (p.Leu439=)
17	g.42543266_42543269del	CA2506121983	NAGLU	c.1260_1263del (p.Glu421LeufsTer2) c.598_601del (n.598_601del) c.299_302del c.429_432del (p.Glu144LeufsTer2) c.261_264del (p.Glu88LeufsTer2) c.1317_1320del (p.Glu440LeufsTer2)
17	g.42543267G>A	CA8576987	NAGLU	c.1261G>A (p.Glu421Lys) c.599G>A (n.599G>A) c.300G>A c.430G>A (p.Glu144Lys) c.262G>A (p.Glu88Lys) c.1318G>A (p.Glu440Lys)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.42543267G>C	CA399601634	NAGLU	c.1261G>C (p.Glu421Gln) c.599G>C (n.599G>C) c.300G>C c.430G>C (p.Glu144Gln) c.262G>C (p.Glu88Gln) c.1318G>C (p.Glu440Gln)
17	g.42543267G=	CA2260530185	NAGLU	c.1261G= (p.Glu421=) c.599G= (n.599G=) c.300G= c.430G= (p.Glu144=) c.262G= (p.Glu88=) c.1318G= (p.Glu440=)
17	g.42543267G>T	CA399601633	NAGLU	c.1261G>T (p.Glu421Ter) c.599G>T (n.599G>T) c.300G>T c.430G>T (p.Glu144Ter) c.262G>T (p.Glu88Ter) c.1318G>T (p.Glu440Ter)
17	g.42543268A>C	CA399601637	NAGLU	c.1262A>C (p.Glu421Ala) c.600A>C (n.600A>C) c.301A>C c.431A>C (p.Glu144Ala) c.263A>C (p.Glu88Ala) c.1319A>C (p.Glu440Ala)
17	g.42543268A>G	CA399601639	NAGLU	c.1262A>G (p.Glu421Gly) c.600A>G (n.600A>G) c.301A>G c.431A>G (p.Glu144Gly) c.263A>G (p.Glu88Gly) c.1319A>G (p.Glu440Gly)
17	g.42543268A>T	CA399601640	NAGLU	c.1262A>T (p.Glu421Val) c.600A>T (n.600A>T) c.301A>T c.431A>T (p.Glu144Val) c.263A>T (p.Glu88Val) c.1319A>T (p.Glu440Val)
17	g.42543269G>A	CA500216840	NAGLU	c.1263G>A (p.Glu421=) c.601G>A (n.601G>A) c.302G>A c.432G>A (p.Glu144=) c.264G>A (p.Glu88=) c.1320G>A (p.Glu440=)	ClinVar gnomAD v4
17	g.42543269G>C	CA399601642	NAGLU	c.1263G>C (p.Glu421Asp) c.601G>C (n.601G>C) c.302G>C c.432G>C (p.Glu144Asp) c.264G>C (p.Glu88Asp) c.1320G>C (p.Glu440Asp)
17	g.42543269G>T	CA399601644	NAGLU	c.1263G>T (p.Glu421Asp) c.601G>T (n.601G>T) c.302G>T c.432G>T (p.Glu144Asp) c.264G>T (p.Glu88Asp) c.1320G>T (p.Glu440Asp)
17	g.42543270G>A	CA399601646	NAGLU	c.1264G>A (p.Ala422Thr) c.602G>A (n.602G>A) c.303G>A c.433G>A (p.Ala145Thr) c.265G>A (p.Ala89Thr) c.1321G>A (p.Ala441Thr)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.42543270G>C	CA399601648	NAGLU	c.1264G>C (p.Ala422Pro) c.602G>C (n.602G>C) c.303G>C c.433G>C (p.Ala145Pro) c.265G>C (p.Ala89Pro) c.1321G>C (p.Ala441Pro)
17	g.42543270G=	CA2260530186	NAGLU	c.1264G= (p.Ala422=) c.602G= (n.602G=) c.303G= c.433G= (p.Ala145=) c.265G= (p.Ala89=) c.1321G= (p.Ala441=)
17	g.42543270G>T	CA399601650	NAGLU	c.1264G>T (p.Ala422Ser) c.602G>T (n.602G>T) c.303G>T c.433G>T (p.Ala145Ser) c.265G>T (p.Ala89Ser) c.1321G>T (p.Ala441Ser)
17	g.42543271C>A	CA399601652	NAGLU	c.1265C>A (p.Ala422Asp) c.603C>A (n.603C>A) c.304C>A c.434C>A (p.Ala145Asp) c.266C>A (p.Ala89Asp) c.1322C>A (p.Ala441Asp)
17	g.42543271C>G	CA399601654	NAGLU	c.1265C>G (p.Ala422Gly) c.603C>G (n.603C>G) c.304C>G c.434C>G (p.Ala145Gly) c.266C>G (p.Ala89Gly) c.1322C>G (p.Ala441Gly)
17	g.42543271C>T	CA399601656	NAGLU	c.1265C>T (p.Ala422Val) c.603C>T (n.603C>T) c.304C>T c.434C>T (p.Ala145Val) c.266C>T (p.Ala89Val) c.1322C>T (p.Ala441Val)	gnomAD v4
17	g.42543272T>A	CA500216841	NAGLU	c.1266T>A (p.Ala422=) c.604T>A (n.604T>A) c.305T>A c.435T>A (p.Ala145=) c.267T>A (p.Ala89=) c.1323T>A (p.Ala441=)
17	g.42543272T>C	CA500216843	NAGLU	c.1266T>C (p.Ala422=) c.604T>C (n.604T>C) c.305T>C c.435T>C (p.Ala145=) c.267T>C (p.Ala89=) c.1323T>C (p.Ala441=)
17	g.42543272T>G	CA500216842	NAGLU	c.1266T>G (p.Ala422=) c.604T>G (n.604T>G) c.305T>G c.435T>G (p.Ala145=) c.267T>G (p.Ala89=) c.1323T>G (p.Ala441=)	gnomAD v4
17	g.42543273G>A	CA399601658	NAGLU	c.1267G>A (p.Val423Met) c.605G>A (n.605G>A) c.306G>A c.436G>A (p.Val146Met) c.268G>A (p.Val90Met) c.1324G>A (p.Val442Met)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543273G>C	CA399601661	NAGLU	c.1267G>C (p.Val423Leu) c.605G>C (n.605G>C) c.306G>C c.436G>C (p.Val146Leu) c.268G>C (p.Val90Leu) c.1324G>C (p.Val442Leu)
17	g.42543273G=	CA2260530187	NAGLU	c.1267G= (p.Val423=) c.605G= (n.605G=) c.306G= c.436G= (p.Val146=) c.268G= (p.Val90=) c.1324G= (p.Val442=)
17	g.42543273G>T	CA399601659	NAGLU	c.1267G>T (p.Val423Leu) c.605G>T (n.605G>T) c.306G>T c.436G>T (p.Val146Leu) c.268G>T (p.Val90Leu) c.1324G>T (p.Val442Leu)
17	g.42543274T>A	CA399601664	NAGLU	c.1268T>A (p.Val423Glu) c.606T>A (n.606T>A) c.307T>A c.437T>A (p.Val146Glu) c.269T>A (p.Val90Glu) c.1325T>A (p.Val442Glu)	dbSNP gnomAD v3 gnomAD v4
17	g.42543274T>C	CA399601666	NAGLU	c.1268T>C (p.Val423Ala) c.606T>C (n.606T>C) c.307T>C c.437T>C (p.Val146Ala) c.269T>C (p.Val90Ala) c.1325T>C (p.Val442Ala)
17	g.42543274T>G	CA399601667	NAGLU	c.1268T>G (p.Val423Gly) c.606T>G (n.606T>G) c.307T>G c.437T>G (p.Val146Gly) c.269T>G (p.Val90Gly) c.1325T>G (p.Val442Gly)
17	g.42543274T=	CA2260530188	NAGLU	c.1268T= (p.Val423=) c.606T= (n.606T=) c.307T= c.437T= (p.Val146=) c.269T= (p.Val90=) c.1325T= (p.Val442=)
17	g.42543275G>A	CA500216845	NAGLU	c.1269G>A (p.Val423=) c.607G>A (n.607G>A) c.308G>A c.438G>A (p.Val146=) c.270G>A (p.Val90=) c.1326G>A (p.Val442=)	ClinVar dbSNP gnomAD v4
17	g.42543275G>C	CA500216846	NAGLU	c.1269G>C (p.Val423=) c.607G>C (n.607G>C) c.308G>C c.438G>C (p.Val146=) c.270G>C (p.Val90=) c.1326G>C (p.Val442=)	gnomAD v4
17	g.42543275G>T	CA500216844	NAGLU	c.1269G>T (p.Val423=) c.607G>T (n.607G>T) c.308G>T c.438G>T (p.Val146=) c.270G>T (p.Val90=) c.1326G>T (p.Val442=)
17	g.42543276_42543279del	CA2570628028	NAGLU	c.1270_1273del (p.Asn424GlufsTer15) c.608_611del (n.608_611del) c.309_312del c.439_442del (p.Asn147GlufsTer15) c.271_274del (p.Asn91GlufsTer15) c.1327_1330del (p.Asn443GlufsTer15)
17	g.42543276A>C	CA399601670	NAGLU	c.1270A>C (p.Asn424His) c.608A>C (n.608A>C) c.309A>C c.439A>C (p.Asn147His) c.271A>C (p.Asn91His) c.1327A>C (p.Asn443His)
17	g.42543276A>G	CA399601671	NAGLU	c.1270A>G (p.Asn424Asp) c.608A>G (n.608A>G) c.309A>G c.439A>G (p.Asn147Asp) c.271A>G (p.Asn91Asp) c.1327A>G (p.Asn443Asp)
17	g.42543276A>T	CA399601672	NAGLU	c.1270A>T (p.Asn424Tyr) c.608A>T (n.608A>T) c.309A>T c.439A>T (p.Asn147Tyr) c.271A>T (p.Asn91Tyr) c.1327A>T (p.Asn443Tyr)
17	g.42543277A=	CA2260530189	NAGLU	c.1271A= (p.Asn424=) c.609A= (n.609A=) c.310A= c.440A= (p.Asn147=) c.272A= (p.Asn91=) c.1328A= (p.Asn443=)
17	g.42543277A>C	CA399601675	NAGLU	c.1271A>C (p.Asn424Thr) c.609A>C (n.609A>C) c.310A>C c.440A>C (p.Asn147Thr) c.272A>C (p.Asn91Thr) c.1328A>C (p.Asn443Thr)
17	g.42543277A>G	CA399601676	NAGLU	c.1271A>G (p.Asn424Ser) c.609A>G (n.609A>G) c.310A>G c.440A>G (p.Asn147Ser) c.272A>G (p.Asn91Ser) c.1328A>G (p.Asn443Ser)	dbSNP gnomAD v3 gnomAD v4
17	g.42543277A>T	CA399601678	NAGLU	c.1271A>T (p.Asn424Ile) c.609A>T (n.609A>T) c.310A>T c.440A>T (p.Asn147Ile) c.272A>T (p.Asn91Ile) c.1328A>T (p.Asn443Ile)
17	g.42543278C>A	CA399601681	NAGLU	c.1272C>A (p.Asn424Lys) c.610C>A (n.610C>A) c.311C>A c.441C>A (p.Asn147Lys) c.273C>A (p.Asn91Lys) c.1329C>A (p.Asn443Lys)	ClinVar
17	g.42543278C=	CA2260530190	NAGLU	c.1272C= (p.Asn424=) c.610C= (n.610C=) c.311C= c.441C= (p.Asn147=) c.273C= (p.Asn91=) c.1329C= (p.Asn443=)
17	g.42543278C>G	CA399601683	NAGLU	c.1272C>G (p.Asn424Lys) c.610C>G (n.610C>G) c.311C>G c.441C>G (p.Asn147Lys) c.273C>G (p.Asn91Lys) c.1329C>G (p.Asn443Lys)	dbSNP gnomAD v3 gnomAD v4
17	g.42543278C>T	CA8576988	NAGLU	c.1272C>T (p.Asn424=) c.610C>T (n.610C>T) c.311C>T c.441C>T (p.Asn147=) c.273C>T (p.Asn91=) c.1329C>T (p.Asn443=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543279G>A	CA290780288	NAGLU	c.1273G>A (p.Gly425Arg) c.611G>A (n.611G>A) c.312G>A c.442G>A (p.Gly148Arg) c.274G>A (p.Gly92Arg) c.1330G>A (p.Gly444Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543279G>C	CA399601689	NAGLU	c.1273G>C (p.Gly425Arg) c.611G>C (n.611G>C) c.312G>C c.442G>C (p.Gly148Arg) c.274G>C (p.Gly92Arg) c.1330G>C (p.Gly444Arg)
17	g.42543279G=	CA2260530191	NAGLU	c.1273G= (p.Gly425=) c.611G= (n.611G=) c.312G= c.442G= (p.Gly148=) c.274G= (p.Gly92=) c.1330G= (p.Gly444=)
17	g.42543279G>T	CA399601687	NAGLU	c.1273G>T (p.Gly425Ter) c.611G>T (n.611G>T) c.312G>T c.442G>T (p.Gly148Ter) c.274G>T (p.Gly92Ter) c.1330G>T (p.Gly444Ter)
17	g.42543280G>A	CA399601691	NAGLU	c.1274G>A (p.Gly425Glu) c.612G>A (n.612G>A) c.313G>A c.443G>A (p.Gly148Glu) c.275G>A (p.Gly92Glu) c.1331G>A (p.Gly444Glu)
17	g.42543280G>C	CA399601693	NAGLU	c.1274G>C (p.Gly425Ala) c.612G>C (n.612G>C) c.313G>C c.443G>C (p.Gly148Ala) c.275G>C (p.Gly92Ala) c.1331G>C (p.Gly444Ala)
17	g.42543280G>T	CA399601695	NAGLU	c.1274G>T (p.Gly425Val) c.612G>T (n.612G>T) c.313G>T c.443G>T (p.Gly148Val) c.275G>T (p.Gly92Val) c.1331G>T (p.Gly444Val)
17	g.42543281A=	CA2260530192	NAGLU	c.1275A= (p.Gly425=) c.613A= (n.613A=) c.314A= c.444A= (p.Gly148=) c.276A= (p.Gly92=) c.1332A= (p.Gly444=)
17	g.42543281A>C	CA500216847	NAGLU	c.1275A>C (p.Gly425=) c.613A>C (n.613A>C) c.314A>C c.444A>C (p.Gly148=) c.276A>C (p.Gly92=) c.1332A>C (p.Gly444=)
17	g.42543281A>G	CA8576989	NAGLU	c.1275A>G (p.Gly425=) c.613A>G (n.613A>G) c.314A>G c.444A>G (p.Gly148=) c.276A>G (p.Gly92=) c.1332A>G (p.Gly444=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543281A>T	CA500216848	NAGLU	c.1275A>T (p.Gly425=) c.613A>T (n.613A>T) c.314A>T c.444A>T (p.Gly148=) c.276A>T (p.Gly92=) c.1332A>T (p.Gly444=)
17	g.42543282G>A	CA399601698	NAGLU	c.1276G>A (p.Gly426Ser) c.614G>A (n.614G>A) c.315G>A c.445G>A (p.Gly149Ser) c.277G>A (p.Gly93Ser) c.1333G>A (p.Gly445Ser)
17	g.42543282G>C	CA399601700	NAGLU	c.1276G>C (p.Gly426Arg) c.614G>C (n.614G>C) c.315G>C c.445G>C (p.Gly149Arg) c.277G>C (p.Gly93Arg) c.1333G>C (p.Gly445Arg)
17	g.42543282G>T	CA399601702	NAGLU	c.1276G>T (p.Gly426Cys) c.614G>T (n.614G>T) c.315G>T c.445G>T (p.Gly149Cys) c.277G>T (p.Gly93Cys) c.1333G>T (p.Gly445Cys)
17	g.42543283G>A	CA399601704	NAGLU	c.1277G>A (p.Gly426Asp) c.615G>A (n.615G>A) c.316G>A c.446G>A (p.Gly149Asp) c.278G>A (p.Gly93Asp) c.1334G>A (p.Gly445Asp)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543283G>C	CA8576990	NAGLU	c.1277G>C (p.Gly426Ala) c.615G>C (n.615G>C) c.316G>C c.446G>C (p.Gly149Ala) c.278G>C (p.Gly93Ala) c.1334G>C (p.Gly445Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.42543283G=	CA2260530193	NAGLU	c.1277G= (p.Gly426=) c.615G= (n.615G=) c.316G= c.446G= (p.Gly149=) c.278G= (p.Gly93=) c.1334G= (p.Gly445=)
17	g.42543283G>T	CA399601706	NAGLU	c.1277G>T (p.Gly426Val) c.615G>T (n.615G>T) c.316G>T c.446G>T (p.Gly149Val) c.278G>T (p.Gly93Val) c.1334G>T (p.Gly445Val)
17	g.42543284C>A	CA500216849	NAGLU	c.1278C>A (p.Gly426=) c.616C>A (n.616C>A) c.317C>A c.447C>A (p.Gly149=) c.279C>A (p.Gly93=) c.1335C>A (p.Gly445=)
17	g.42543284C=	CA2260530194	NAGLU	c.1278C= (p.Gly426=) c.616C= (n.616C=) c.317C= c.447C= (p.Gly149=) c.279C= (p.Gly93=) c.1335C= (p.Gly445=)
17	g.42543284C>G	CA500216851	NAGLU	c.1278C>G (p.Gly426=) c.616C>G (n.616C>G) c.317C>G c.447C>G (p.Gly149=) c.279C>G (p.Gly93=) c.1335C>G (p.Gly445=)
17	g.42543284C>T	CA500216850	NAGLU	c.1278C>T (p.Gly426=) c.616C>T (n.616C>T) c.317C>T c.447C>T (p.Gly149=) c.279C>T (p.Gly93=) c.1335C>T (p.Gly445=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.42543285C>A	CA399601710	NAGLU	c.1279C>A (p.Pro427Thr) c.617C>A (n.617C>A) c.318C>A c.448C>A (p.Pro150Thr) c.280C>A (p.Pro94Thr) c.1336C>A (p.Pro446Thr)	gnomAD v4
17	g.42543285C=	CA2260530195	NAGLU	c.1279C= (p.Pro427=) c.617C= (n.617C=) c.318C= c.448C= (p.Pro150=) c.280C= (p.Pro94=) c.1336C= (p.Pro446=)
17	g.42543285C>G	CA399601712	NAGLU	c.1279C>G (p.Pro427Ala) c.617C>G (n.617C>G) c.318C>G c.448C>G (p.Pro150Ala) c.280C>G (p.Pro94Ala) c.1336C>G (p.Pro446Ala)	dbSNP
17	g.42543285C>T	CA399601708	NAGLU	c.1279C>T (p.Pro427Ser) c.617C>T (n.617C>T) c.318C>T c.448C>T (p.Pro150Ser) c.280C>T (p.Pro94Ser) c.1336C>T (p.Pro446Ser)	gnomAD v4
17	g.42543285_42543286insAT	CA2522203409	NAGLU	c.1279_1280insAT (p.Pro427HisfsTer14) c.617_618insAT (n.617_618insAT) c.318_319insAT c.448_449insAT (p.Pro150HisfsTer14) c.280_281insAT (p.Pro94HisfsTer14) c.1336_1337insAT (p.Pro446HisfsTer14)
17	g.42543286C>A	CA399601714	NAGLU	c.1280C>A (p.Pro427Gln) c.618C>A (n.618C>A) c.319C>A c.449C>A (p.Pro150Gln) c.281C>A (p.Pro94Gln) c.1337C>A (p.Pro446Gln)
17	g.42543286C=	CA2260530196	NAGLU	c.1280C= (p.Pro427=) c.618C= (n.618C=) c.319C= c.449C= (p.Pro150=) c.281C= (p.Pro94=) c.1337C= (p.Pro446=)
17	g.42543286C>G	CA399601716	NAGLU	c.1280C>G (p.Pro427Arg) c.618C>G (n.618C>G) c.319C>G c.449C>G (p.Pro150Arg) c.281C>G (p.Pro94Arg) c.1337C>G (p.Pro446Arg)	dbSNP gnomAD v3 gnomAD v4
17	g.42543286C>T	CA399601718	NAGLU	c.1280C>T (p.Pro427Leu) c.618C>T (n.618C>T) c.319C>T c.449C>T (p.Pro150Leu) c.281C>T (p.Pro94Leu) c.1337C>T (p.Pro446Leu)	dbSNP
17	g.42543287A>C	CA500216852	NAGLU	c.1281A>C (p.Pro427=) c.619A>C (n.619A>C) c.320A>C c.450A>C (p.Pro150=) c.282A>C (p.Pro94=) c.1338A>C (p.Pro446=)
17	g.42543287A>G	CA500216854	NAGLU	c.1281A>G (p.Pro427=) c.619A>G (n.619A>G) c.320A>G c.450A>G (p.Pro150=) c.282A>G (p.Pro94=) c.1338A>G (p.Pro446=)
17	g.42543287A>T	CA500216853	NAGLU	c.1281A>T (p.Pro427=) c.619A>T (n.619A>T) c.320A>T c.450A>T (p.Pro150=) c.282A>T (p.Pro94=) c.1338A>T (p.Pro446=)
17	g.42543288_42543289del	CA2518868058	NAGLU	c.1282_1283del (p.Glu428SerfsTer?) c.620_621del (n.620_621del) c.321_322del c.451_452del (p.Glu151SerfsTer?) c.283_284del (p.Glu95SerfsTer?) c.1339_1340del (p.Glu447SerfsTer?)
17	g.42543288G>A	CA399601719	NAGLU	c.1282G>A (p.Glu428Lys) c.620G>A (n.620G>A) c.321G>A c.451G>A (p.Glu151Lys) c.283G>A (p.Glu95Lys) c.1339G>A (p.Glu447Lys)
17	g.42543288G>C	CA399601721	NAGLU	c.1282G>C (p.Glu428Gln) c.620G>C (n.620G>C) c.321G>C c.451G>C (p.Glu151Gln) c.283G>C (p.Glu95Gln) c.1339G>C (p.Glu447Gln)
17	g.42543288G>T	CA399601723	NAGLU	c.1282G>T (p.Glu428Ter) c.620G>T (n.620G>T) c.321G>T c.451G>T (p.Glu151Ter) c.283G>T (p.Glu95Ter) c.1339G>T (p.Glu447Ter)
17	g.42543289A>C	CA399601729	NAGLU	c.1283A>C (p.Glu428Ala) c.621A>C (n.621A>C) c.322A>C c.452A>C (p.Glu151Ala) c.284A>C (p.Glu95Ala) c.1340A>C (p.Glu447Ala)
17	g.42543289A>G	CA399601725	NAGLU	c.1283A>G (p.Glu428Gly) c.621A>G (n.621A>G) c.322A>G c.452A>G (p.Glu151Gly) c.284A>G (p.Glu95Gly) c.1340A>G (p.Glu447Gly)
17	g.42543289A>T	CA399601727	NAGLU	c.1283A>T (p.Glu428Val) c.621A>T (n.621A>T) c.322A>T c.452A>T (p.Glu151Val) c.284A>T (p.Glu95Val) c.1340A>T (p.Glu447Val)
17	g.42543290A>C	CA399601731	NAGLU	c.1284A>C (p.Glu428Asp) c.622A>C (n.622A>C) c.323A>C c.453A>C (p.Glu151Asp) c.285A>C (p.Glu95Asp) c.1341A>C (p.Glu447Asp)
17	g.42543290A>G	CA500216855	NAGLU	c.1284A>G (p.Glu428=) c.622A>G (n.622A>G) c.323A>G c.453A>G (p.Glu151=) c.285A>G (p.Glu95=) c.1341A>G (p.Glu447=)
17	g.42543290A>T	CA399601732	NAGLU	c.1284A>T (p.Glu428Asp) c.622A>T (n.622A>T) c.323A>T c.453A>T (p.Glu151Asp) c.285A>T (p.Glu95Asp) c.1341A>T (p.Glu447Asp)
17	g.42543291G>A	CA290780295	NAGLU	c.1285G>A (p.Ala429Thr) c.623G>A (n.623G>A) c.324G>A c.454G>A (p.Ala152Thr) c.286G>A (p.Ala96Thr) c.1342G>A (p.Ala448Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543291G>C	CA399601734	NAGLU	c.1285G>C (p.Ala429Pro) c.623G>C (n.623G>C) c.324G>C c.454G>C (p.Ala152Pro) c.286G>C (p.Ala96Pro) c.1342G>C (p.Ala448Pro)	dbSNP
17	g.42543291G=	CA2260530197	NAGLU	c.1285G= (p.Ala429=) c.623G= (n.623G=) c.324G= c.454G= (p.Ala152=) c.286G= (p.Ala96=) c.1342G= (p.Ala448=)
17	g.42543291G>T	CA399601736	NAGLU	c.1285G>T (p.Ala429Ser) c.623G>T (n.623G>T) c.324G>T c.454G>T (p.Ala152Ser) c.286G>T (p.Ala96Ser) c.1342G>T (p.Ala448Ser)
17	g.42543292C>A	CA399601738	NAGLU	c.1286C>A (p.Ala429Asp) c.624C>A (n.624C>A) c.325C>A c.455C>A (p.Ala152Asp) c.287C>A (p.Ala96Asp) c.1343C>A (p.Ala448Asp)
17	g.42543292C>G	CA399601742	NAGLU	c.1286C>G (p.Ala429Gly) c.624C>G (n.624C>G) c.325C>G c.455C>G (p.Ala152Gly) c.287C>G (p.Ala96Gly) c.1343C>G (p.Ala448Gly)
17	g.42543292C>T	CA399601740	NAGLU	c.1286C>T (p.Ala429Val) c.624C>T (n.624C>T) c.325C>T c.455C>T (p.Ala152Val) c.287C>T (p.Ala96Val) c.1343C>T (p.Ala448Val)
17	g.42543293T>A	CA500216857	NAGLU	c.1287T>A (p.Ala429=) c.625T>A (n.625T>A) c.326T>A c.456T>A (p.Ala152=) c.288T>A (p.Ala96=) c.1344T>A (p.Ala448=)
17	g.42543293T>C	CA500216856	NAGLU	c.1287T>C (p.Ala429=) c.625T>C (n.625T>C) c.326T>C c.456T>C (p.Ala152=) c.288T>C (p.Ala96=) c.1344T>C (p.Ala448=)
17	g.42543293T>G	CA500216858	NAGLU	c.1287T>G (p.Ala429=) c.625T>G (n.625T>G) c.326T>G c.456T>G (p.Ala152=) c.288T>G (p.Ala96=) c.1344T>G (p.Ala448=)	ClinVar dbSNP
17	g.42543293_42543295delinsTGC	CA2260530198	NAGLU	c.1287_1289delinsTGC (p.Ala429=) c.625_627delinsTGC (n.625_627delinsTGC) c.326_328delinsTGC c.456_458delinsTGC (p.Ala152=) c.288_290delinsTGC (p.Ala96=) c.1344_1346delinsTGC (p.Ala448=)
17	g.42543294G>A	CA8576991	NAGLU	c.1288G>A (p.Ala430Thr) c.626G>A (n.626G>A) c.327G>A c.457G>A (p.Ala153Thr) c.289G>A (p.Ala97Thr) c.1345G>A (p.Ala449Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.42543294G>C	CA399601744	NAGLU	c.1288G>C (p.Ala430Pro) c.626G>C (n.626G>C) c.327G>C c.457G>C (p.Ala153Pro) c.289G>C (p.Ala97Pro) c.1345G>C (p.Ala449Pro)
17	g.42543294G=	CA2260530199	NAGLU	c.1288G= (p.Ala430=) c.626G= (n.626G=) c.327G= c.457G= (p.Ala153=) c.289G= (p.Ala97=) c.1345G= (p.Ala449=)
17	g.42543294G>T	CA399601746	NAGLU	c.1288G>T (p.Ala430Ser) c.626G>T (n.626G>T) c.327G>T c.457G>T (p.Ala153Ser) c.289G>T (p.Ala97Ser) c.1345G>T (p.Ala449Ser)	ClinVar
17	g.42543294_42543295del	CA916083540	NAGLU	c.1288_1289del (p.Ala430ProfsTer30) c.626_627del (n.626_627del) c.327_328del c.457_458del (p.Ala153ProfsTer30) c.289_290del (p.Ala97ProfsTer30) c.1345_1346del (p.Ala449ProfsTer30)	ClinVar dbSNP gnomAD v4
17	g.42543295C>A	CA399601748	NAGLU	c.1289C>A (p.Ala430Asp) c.627C>A (n.627C>A) c.328C>A c.458C>A (p.Ala153Asp) c.290C>A (p.Ala97Asp) c.1346C>A (p.Ala449Asp)
17	g.42543295C>G	CA399601750	NAGLU	c.1289C>G (p.Ala430Gly) c.627C>G (n.627C>G) c.328C>G c.458C>G (p.Ala153Gly) c.290C>G (p.Ala97Gly) c.1346C>G (p.Ala449Gly)
17	g.42543295C>T	CA399601751	NAGLU	c.1289C>T (p.Ala430Val) c.627C>T (n.627C>T) c.328C>T c.458C>T (p.Ala153Val) c.290C>T (p.Ala97Val) c.1346C>T (p.Ala449Val)	gnomAD v4
17	g.42543297dup	CA1139665541	NAGLU	c.1291dup (p.Arg431ProfsTer30) c.629dup (n.629dup) c.330dup c.460dup (p.Arg154ProfsTer30) c.292dup (p.Arg98ProfsTer30) c.1348dup (p.Arg450ProfsTer30)	ClinVar dbSNP
17	g.42543296C>A	CA500216859	NAGLU	c.1290C>A (p.Ala430=) c.628C>A (n.628C>A) c.329C>A c.459C>A (p.Ala153=) c.291C>A (p.Ala97=) c.1347C>A (p.Ala449=)
17	g.42543296C>G	CA500216861	NAGLU	c.1290C>G (p.Ala430=) c.628C>G (n.628C>G) c.329C>G c.459C>G (p.Ala153=) c.291C>G (p.Ala97=) c.1347C>G (p.Ala449=)
17	g.42543296C>T	CA500216860	NAGLU	c.1290C>T (p.Ala430=) c.628C>T (n.628C>T) c.329C>T c.459C>T (p.Ala153=) c.291C>T (p.Ala97=) c.1347C>T (p.Ala449=)	ClinVar dbSNP
17	g.42543297C>A	CA399601753	NAGLU	c.1291C>A (p.Arg431Ser) c.629C>A (n.629C>A) c.330C>A c.460C>A (p.Arg154Ser) c.292C>A (p.Arg98Ser) c.1348C>A (p.Arg450Ser)
17	g.42543297C=	CA2260530200	NAGLU	c.1291C= (p.Arg431=) c.629C= (n.629C=) c.330C= c.460C= (p.Arg154=) c.292C= (p.Arg98=) c.1348C= (p.Arg450=)
17	g.42543297C>G	CA399601754	NAGLU	c.1291C>G (p.Arg431Gly) c.629C>G (n.629C>G) c.330C>G c.460C>G (p.Arg154Gly) c.292C>G (p.Arg98Gly) c.1348C>G (p.Arg450Gly)
17	g.42543297C>T	CA8576992	NAGLU	c.1291C>T (p.Arg431Cys) c.629C>T (n.629C>T) c.330C>T c.460C>T (p.Arg154Cys) c.292C>T (p.Arg98Cys) c.1348C>T (p.Arg450Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543298G>A	CA399601758	NAGLU	c.1292G>A (p.Arg431His) c.630G>A (n.630G>A) c.331G>A c.461G>A (p.Arg154His) c.293G>A (p.Arg98His) c.1349G>A (p.Arg450His)	gnomAD v4
17	g.42543298G>C	CA399601759	NAGLU	c.1292G>C (p.Arg431Pro) c.630G>C (n.630G>C) c.331G>C c.461G>C (p.Arg154Pro) c.293G>C (p.Arg98Pro) c.1349G>C (p.Arg450Pro)
17	g.42543298G>T	CA399601761	NAGLU	c.1292G>T (p.Arg431Leu) c.630G>T (n.630G>T) c.331G>T c.461G>T (p.Arg154Leu) c.293G>T (p.Arg98Leu) c.1349G>T (p.Arg450Leu)	gnomAD v4
17	g.42543299C>A	CA500216862	NAGLU	c.1293C>A (p.Arg431=) c.631C>A (n.631C>A) c.332C>A c.462C>A (p.Arg154=) c.294C>A (p.Arg98=) c.1350C>A (p.Arg450=)
17	g.42543299C>G	CA500216863	NAGLU	c.1293C>G (p.Arg431=) c.631C>G (n.631C>G) c.332C>G c.462C>G (p.Arg154=) c.294C>G (p.Arg98=) c.1350C>G (p.Arg450=)
17	g.42543299C>T	CA500216864	NAGLU	c.1293C>T (p.Arg431=) c.631C>T (n.631C>T) c.332C>T c.462C>T (p.Arg154=) c.294C>T (p.Arg98=) c.1350C>T (p.Arg450=)	ClinVar
17	g.42543300C>A	CA399601763	NAGLU	c.1294C>A (p.Leu432Ile) c.632C>A (n.632C>A) c.333C>A c.463C>A (p.Leu155Ile) c.295C>A (p.Leu99Ile) c.1351C>A (p.Leu451Ile)
17	g.42543300C>G	CA399601767	NAGLU	c.1294C>G (p.Leu432Val) c.632C>G (n.632C>G) c.333C>G c.463C>G (p.Leu155Val) c.295C>G (p.Leu99Val) c.1351C>G (p.Leu451Val)
17	g.42543300C>T	CA399601765	NAGLU	c.1294C>T (p.Leu432Phe) c.632C>T (n.632C>T) c.333C>T c.463C>T (p.Leu155Phe) c.295C>T (p.Leu99Phe) c.1351C>T (p.Leu451Phe)
17	g.42543303_42543313del	CA2695225862	NAGLU	c.1297_1307del (p.Phe433HisfsTer24) c.635_645del (n.635_645del) c.336_346del c.466_476del (p.Phe156HisfsTer24) c.298_308del (p.Phe100HisfsTer24) c.1354_1364del (p.Phe452HisfsTer24)
17	g.42543301T>A	CA399601769	NAGLU	c.1295T>A (p.Leu432His) c.633T>A (n.633T>A) c.334T>A c.464T>A (p.Leu155His) c.296T>A (p.Leu99His) c.1352T>A (p.Leu451His)
17	g.42543301T>C	CA399601770	NAGLU	c.1295T>C (p.Leu432Pro) c.633T>C (n.633T>C) c.334T>C c.464T>C (p.Leu155Pro) c.296T>C (p.Leu99Pro) c.1352T>C (p.Leu451Pro)
17	g.42543301T>G	CA399601772	NAGLU	c.1295T>G (p.Leu432Arg) c.633T>G (n.633T>G) c.334T>G c.464T>G (p.Leu155Arg) c.296T>G (p.Leu99Arg) c.1352T>G (p.Leu451Arg)
17	g.42543302C>A	CA500216866	NAGLU	c.1296C>A (p.Leu432=) c.634C>A (n.634C>A) c.335C>A c.465C>A (p.Leu155=) c.297C>A (p.Leu99=) c.1353C>A (p.Leu451=)
17	g.42543302C=	CA2260530201	NAGLU	c.1296C= (p.Leu432=) c.634C= (n.634C=) c.335C= c.465C= (p.Leu155=) c.297C= (p.Leu99=) c.1353C= (p.Leu451=)
17	g.42543302C>G	CA290780301	NAGLU	c.1296C>G (p.Leu432=) c.634C>G (n.634C>G) c.335C>G c.465C>G (p.Leu155=) c.297C>G (p.Leu99=) c.1353C>G (p.Leu451=)	dbSNP gnomAD v3 gnomAD v4
17	g.42543302C>T	CA500216865	NAGLU	c.1296C>T (p.Leu432=) c.634C>T (n.634C>T) c.335C>T c.465C>T (p.Leu155=) c.297C>T (p.Leu99=) c.1353C>T (p.Leu451=)	ClinVar
17	g.42543303T>A	CA399601774	NAGLU	c.1297T>A (p.Phe433Ile) c.635T>A (n.635T>A) c.336T>A c.466T>A (p.Phe156Ile) c.298T>A (p.Phe100Ile) c.1354T>A (p.Phe452Ile)
17	g.42543303T>C	CA399601776	NAGLU	c.1297T>C (p.Phe433Leu) c.635T>C (n.635T>C) c.336T>C c.466T>C (p.Phe156Leu) c.298T>C (p.Phe100Leu) c.1354T>C (p.Phe452Leu)
17	g.42543303T>G	CA399601778	NAGLU	c.1297T>G (p.Phe433Val) c.635T>G (n.635T>G) c.336T>G c.466T>G (p.Phe156Val) c.298T>G (p.Phe100Val) c.1354T>G (p.Phe452Val)
17	g.42543304T>A	CA399601783	NAGLU	c.1298T>A (p.Phe433Tyr) c.636T>A (n.636T>A) c.337T>A c.467T>A (p.Phe156Tyr) c.299T>A (p.Phe100Tyr) c.1355T>A (p.Phe452Tyr)
17	g.42543304T>C	CA399601780	NAGLU	c.1298T>C (p.Phe433Ser) c.636T>C (n.636T>C) c.337T>C c.467T>C (p.Phe156Ser) c.299T>C (p.Phe100Ser) c.1355T>C (p.Phe452Ser)	dbSNP
17	g.42543304T>G	CA399601781	NAGLU	c.1298T>G (p.Phe433Cys) c.636T>G (n.636T>G) c.337T>G c.467T>G (p.Phe156Cys) c.299T>G (p.Phe100Cys) c.1355T>G (p.Phe452Cys)
17	g.42543304T=	CA2260530202	NAGLU	c.1298T= (p.Phe433=) c.636T= (n.636T=) c.337T= c.467T= (p.Phe156=) c.299T= (p.Phe100=) c.1355T= (p.Phe452=)
17	g.42543305C>A	CA399601785	NAGLU	c.1299C>A (p.Phe433Leu) c.637C>A (n.637C>A) c.338C>A c.468C>A (p.Phe156Leu) c.300C>A (p.Phe100Leu) c.1356C>A (p.Phe452Leu)
17	g.42543305C>G	CA399601786	NAGLU	c.1299C>G (p.Phe433Leu) c.637C>G (n.637C>G) c.338C>G c.468C>G (p.Phe156Leu) c.300C>G (p.Phe100Leu) c.1356C>G (p.Phe452Leu)
17	g.42543305C>T	CA500216867	NAGLU	c.1299C>T (p.Phe433=) c.637C>T (n.637C>T) c.338C>T c.468C>T (p.Phe156=) c.300C>T (p.Phe100=) c.1356C>T (p.Phe452=)	ClinVar dbSNP
17	g.42543306C>A	CA399601789	NAGLU	c.1300C>A (p.Pro434Thr) c.638C>A (n.638C>A) c.339C>A c.469C>A (p.Pro157Thr) c.301C>A (p.Pro101Thr) c.1357C>A (p.Pro453Thr)
17	g.42543306C=	CA2260530203	NAGLU	c.1300C= (p.Pro434=) c.638C= (n.638C=) c.339C= c.469C= (p.Pro157=) c.301C= (p.Pro101=) c.1357C= (p.Pro453=)
17	g.42543306C>G	CA399601791	NAGLU	c.1300C>G (p.Pro434Ala) c.638C>G (n.638C>G) c.339C>G c.469C>G (p.Pro157Ala) c.301C>G (p.Pro101Ala) c.1357C>G (p.Pro453Ala)
17	g.42543306C>T	CA399601792	NAGLU	c.1300C>T (p.Pro434Ser) c.638C>T (n.638C>T) c.339C>T c.469C>T (p.Pro157Ser) c.301C>T (p.Pro101Ser) c.1357C>T (p.Pro453Ser)	dbSNP gnomAD v4
17	g.42543307C>A	CA399601793	NAGLU	c.1301C>A (p.Pro434His) c.639C>A (n.639C>A) c.340C>A c.470C>A (p.Pro157His) c.302C>A (p.Pro101His) c.1358C>A (p.Pro453His)
17	g.42543307C>G	CA399601797	NAGLU	c.1301C>G (p.Pro434Arg) c.639C>G (n.639C>G) c.340C>G c.470C>G (p.Pro157Arg) c.302C>G (p.Pro101Arg) c.1358C>G (p.Pro453Arg)	gnomAD v4
17	g.42543307C>T	CA399601795	NAGLU	c.1301C>T (p.Pro434Leu) c.639C>T (n.639C>T) c.340C>T c.470C>T (p.Pro157Leu) c.302C>T (p.Pro101Leu) c.1358C>T (p.Pro453Leu)	gnomAD v4
17	g.42543308C>A	CA500216868	NAGLU	c.1302C>A (p.Pro434=) c.640C>A (n.640C>A) c.341C>A c.471C>A (p.Pro157=) c.303C>A (p.Pro101=) c.1359C>A (p.Pro453=)
17	g.42543308C>G	CA500216870	NAGLU	c.1302C>G (p.Pro434=) c.640C>G (n.640C>G) c.341C>G c.471C>G (p.Pro157=) c.303C>G (p.Pro101=) c.1359C>G (p.Pro453=)	ClinVar
17	g.42543308C>T	CA500216869	NAGLU	c.1302C>T (p.Pro434=) c.640C>T (n.640C>T) c.341C>T c.471C>T (p.Pro157=) c.303C>T (p.Pro101=) c.1359C>T (p.Pro453=)
17	g.42543309A>C	CA399601799	NAGLU	c.1303A>C (p.Asn435His) c.641A>C (n.641A>C) c.342A>C c.472A>C (p.Asn158His) c.304A>C (p.Asn102His) c.1360A>C (p.Asn454His)
17	g.42543309A>G	CA399601800	NAGLU	c.1303A>G (p.Asn435Asp) c.641A>G (n.641A>G) c.342A>G c.472A>G (p.Asn158Asp) c.304A>G (p.Asn102Asp) c.1360A>G (p.Asn454Asp)
17	g.42543309A>T	CA399601802	NAGLU	c.1303A>T (p.Asn435Tyr) c.641A>T (n.641A>T) c.342A>T c.472A>T (p.Asn158Tyr) c.304A>T (p.Asn102Tyr) c.1360A>T (p.Asn454Tyr)
17	g.42543310A=	CA2260530204	NAGLU	c.1304A= (p.Asn435=) c.642A= (n.642A=) c.343A= c.473A= (p.Asn158=) c.305A= (p.Asn102=) c.1361A= (p.Asn454=)
17	g.42543310A>C	CA8576993	NAGLU	c.1304A>C (p.Asn435Thr) c.642A>C (n.642A>C) c.343A>C c.473A>C (p.Asn158Thr) c.305A>C (p.Asn102Thr) c.1361A>C (p.Asn454Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543310A>G	CA290780307	NAGLU	c.1304A>G (p.Asn435Ser) c.642A>G (n.642A>G) c.343A>G c.473A>G (p.Asn158Ser) c.305A>G (p.Asn102Ser) c.1361A>G (p.Asn454Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543310A>T	CA399601806	NAGLU	c.1304A>T (p.Asn435Ile) c.642A>T (n.642A>T) c.343A>T c.473A>T (p.Asn158Ile) c.305A>T (p.Asn102Ile) c.1361A>T (p.Asn454Ile)
17	g.42543311C>A	CA399601807	NAGLU	c.1305C>A (p.Asn435Lys) c.643C>A (n.643C>A) c.344C>A c.474C>A (p.Asn158Lys) c.306C>A (p.Asn102Lys) c.1362C>A (p.Asn454Lys)
17	g.42543311C=	CA2260530205	NAGLU	c.1305C= (p.Asn435=) c.643C= (n.643C=) c.344C= c.474C= (p.Asn158=) c.306C= (p.Asn102=) c.1362C= (p.Asn454=)
17	g.42543311C>G	CA290780314	NAGLU	c.1305C>G (p.Asn435Lys) c.643C>G (n.643C>G) c.344C>G c.474C>G (p.Asn158Lys) c.306C>G (p.Asn102Lys) c.1362C>G (p.Asn454Lys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543311C>T	CA500216871	NAGLU	c.1305C>T (p.Asn435=) c.643C>T (n.643C>T) c.344C>T c.474C>T (p.Asn158=) c.306C>T (p.Asn102=) c.1362C>T (p.Asn454=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.42543312T>A	CA399601810	NAGLU	c.1306T>A (p.Ser436Thr) c.644T>A (n.644T>A) c.345T>A c.475T>A (p.Ser159Thr) c.307T>A (p.Ser103Thr) c.1363T>A (p.Ser455Thr)
17	g.42543312T>C	CA399601812	NAGLU	c.1306T>C (p.Ser436Pro) c.644T>C (n.644T>C) c.345T>C c.475T>C (p.Ser159Pro) c.307T>C (p.Ser103Pro) c.1363T>C (p.Ser455Pro)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543312T>G	CA399601814	NAGLU	c.1306T>G (p.Ser436Ala) c.644T>G (n.644T>G) c.345T>G c.475T>G (p.Ser159Ala) c.307T>G (p.Ser103Ala) c.1363T>G (p.Ser455Ala)
17	g.42543312T=	CA2260530206	NAGLU	c.1306T= (p.Ser436=) c.644T= (n.644T=) c.345T= c.475T= (p.Ser159=) c.307T= (p.Ser103=) c.1363T= (p.Ser455=)
17	g.42543313C>A	CA399601818	NAGLU	c.1307C>A (p.Ser436Tyr) c.645C>A (n.645C>A) c.346C>A c.476C>A (p.Ser159Tyr) c.308C>A (p.Ser103Tyr) c.1364C>A (p.Ser455Tyr)
17	g.42543313C>G	CA399601820	NAGLU	c.1307C>G (p.Ser436Cys) c.645C>G (n.645C>G) c.346C>G c.476C>G (p.Ser159Cys) c.308C>G (p.Ser103Cys) c.1364C>G (p.Ser455Cys)
17	g.42543313C>T	CA399601816	NAGLU	c.1307C>T (p.Ser436Phe) c.645C>T (n.645C>T) c.346C>T c.476C>T (p.Ser159Phe) c.308C>T (p.Ser103Phe) c.1364C>T (p.Ser455Phe)
17	g.42543314C>A	CA500216872	NAGLU	c.1308C>A (p.Ser436=) c.646C>A (n.646C>A) c.347C>A c.477C>A (p.Ser159=) c.309C>A (p.Ser103=) c.1365C>A (p.Ser455=)
17	g.42543314C=	CA2260530207	NAGLU	c.1308C= (p.Ser436=) c.646C= (n.646C=) c.347C= c.477C= (p.Ser159=) c.309C= (p.Ser103=) c.1365C= (p.Ser455=)
17	g.42543314C>G	CA500216873	NAGLU	c.1308C>G (p.Ser436=) c.646C>G (n.646C>G) c.347C>G c.477C>G (p.Ser159=) c.309C>G (p.Ser103=) c.1365C>G (p.Ser455=)
17	g.42543314C>T	CA8576994	NAGLU	c.1308C>T (p.Ser436=) c.646C>T (n.646C>T) c.347C>T c.477C>T (p.Ser159=) c.309C>T (p.Ser103=) c.1365C>T (p.Ser455=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543315A>C	CA399601823	NAGLU	c.1309A>C (p.Thr437Pro) c.647A>C (n.647A>C) c.348A>C c.478A>C (p.Thr160Pro) c.310A>C (p.Thr104Pro) c.1366A>C (p.Thr456Pro)
17	g.42543315A>G	CA399601826	NAGLU	c.1309A>G (p.Thr437Ala) c.647A>G (n.647A>G) c.348A>G c.478A>G (p.Thr160Ala) c.310A>G (p.Thr104Ala) c.1366A>G (p.Thr456Ala)
17	g.42543315A>T	CA399601825	NAGLU	c.1309A>T (p.Thr437Ser) c.647A>T (n.647A>T) c.348A>T c.478A>T (p.Thr160Ser) c.310A>T (p.Thr104Ser) c.1366A>T (p.Thr456Ser)
17	g.42543316C>A	CA399601829	NAGLU	c.1310C>A (p.Thr437Asn) c.648C>A (n.648C>A) c.349C>A c.479C>A (p.Thr160Asn) c.311C>A (p.Thr104Asn) c.1367C>A (p.Thr456Asn)
17	g.42543316C=	CA2260530208	NAGLU	c.1310C= (p.Thr437=) c.648C= (n.648C=) c.349C= c.479C= (p.Thr160=) c.311C= (p.Thr104=) c.1367C= (p.Thr456=)
17	g.42543316C>G	CA8576995	NAGLU	c.1310C>G (p.Thr437Ser) c.648C>G (n.648C>G) c.349C>G c.479C>G (p.Thr160Ser) c.311C>G (p.Thr104Ser) c.1367C>G (p.Thr456Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543316C>T	CA399601832	NAGLU	c.1310C>T (p.Thr437Ile) c.648C>T (n.648C>T) c.349C>T c.479C>T (p.Thr160Ile) c.311C>T (p.Thr104Ile) c.1367C>T (p.Thr456Ile)	gnomAD v4
17	g.42543317C>A	CA500216875	NAGLU	c.1311C>A (p.Thr437=) c.649C>A (n.649C>A) c.350C>A c.480C>A (p.Thr160=) c.312C>A (p.Thr104=) c.1368C>A (p.Thr456=)
17	g.42543317C=	CA2260530209	NAGLU	c.1311C= (p.Thr437=) c.649C= (n.649C=) c.350C= c.480C= (p.Thr160=) c.312C= (p.Thr104=) c.1368C= (p.Thr456=)
17	g.42543317C>G	CA500216874	NAGLU	c.1311C>G (p.Thr437=) c.649C>G (n.649C>G) c.350C>G c.480C>G (p.Thr160=) c.312C>G (p.Thr104=) c.1368C>G (p.Thr456=)	ClinVar dbSNP
17	g.42543317C>T	CA500216876	NAGLU	c.1311C>T (p.Thr437=) c.649C>T (n.649C>T) c.350C>T c.480C>T (p.Thr160=) c.312C>T (p.Thr104=) c.1368C>T (p.Thr456=)	ClinVar dbSNP gnomAD v4
17	g.42543318A=	CA2260530210	NAGLU	c.1312A= (p.Met438=) c.650A= (n.650A=) c.351A= c.481A= (p.Met161=) c.313A= (p.Met105=) c.1369A= (p.Met457=)
17	g.42543318A>C	CA399601834	NAGLU	c.1312A>C (p.Met438Leu) c.650A>C (n.650A>C) c.351A>C c.481A>C (p.Met161Leu) c.313A>C (p.Met105Leu) c.1369A>C (p.Met457Leu)
17	g.42543318A>G	CA399601835	NAGLU	c.1312A>G (p.Met438Val) c.650A>G (n.650A>G) c.351A>G c.481A>G (p.Met161Val) c.313A>G (p.Met105Val) c.1369A>G (p.Met457Val)	dbSNP gnomAD v4
17	g.42543318A>T	CA399601837	NAGLU	c.1312A>T (p.Met438Leu) c.650A>T (n.650A>T) c.351A>T c.481A>T (p.Met161Leu) c.313A>T (p.Met105Leu) c.1369A>T (p.Met457Leu)
17	g.42543319T>A	CA399601839	NAGLU	c.1313T>A (p.Met438Lys) c.651T>A (n.651T>A) c.352T>A c.482T>A (p.Met161Lys) c.314T>A (p.Met105Lys) c.1370T>A (p.Met457Lys)
17	g.42543319T>C	CA399601841	NAGLU	c.1313T>C (p.Met438Thr) c.651T>C (n.651T>C) c.352T>C c.482T>C (p.Met161Thr) c.314T>C (p.Met105Thr) c.1370T>C (p.Met457Thr)
17	g.42543319T>G	CA399601843	NAGLU	c.1313T>G (p.Met438Arg) c.651T>G (n.651T>G) c.352T>G c.482T>G (p.Met161Arg) c.314T>G (p.Met105Arg) c.1370T>G (p.Met457Arg)	ClinVar dbSNP
17	g.42543319T=	CA2260530211	NAGLU	c.1313T= (p.Met438=) c.651T= (n.651T=) c.352T= c.482T= (p.Met161=) c.314T= (p.Met105=) c.1370T= (p.Met457=)
17	g.42543320G>A	CA399601845	NAGLU	c.1314G>A (p.Met438Ile) c.652G>A (n.652G>A) c.353G>A c.483G>A (p.Met161Ile) c.315G>A (p.Met105Ile) c.1371G>A (p.Met457Ile)	dbSNP gnomAD v2 gnomAD v4
17	g.42543320G>C	CA290780327	NAGLU	c.1314G>C (p.Met438Ile) c.652G>C (n.652G>C) c.353G>C c.483G>C (p.Met161Ile) c.315G>C (p.Met105Ile) c.1371G>C (p.Met457Ile)	ClinVar dbSNP gnomAD v4
17	g.42543320G=	CA2260530212	NAGLU	c.1314G= (p.Met438=) c.652G= (n.652G=) c.353G= c.483G= (p.Met161=) c.315G= (p.Met105=) c.1371G= (p.Met457=)
17	g.42543320G>T	CA399601847	NAGLU	c.1314G>T (p.Met438Ile) c.652G>T (n.652G>T) c.353G>T c.483G>T (p.Met161Ile) c.315G>T (p.Met105Ile) c.1371G>T (p.Met457Ile)
17	g.42543321G>A	CA399601849	NAGLU	c.1315G>A (p.Val439Ile) c.653G>A (n.653G>A) c.354G>A c.484G>A (p.Val162Ile) c.316G>A (p.Val106Ile) c.1372G>A (p.Val458Ile)	gnomAD v4
17	g.42543321G>C	CA399601852	NAGLU	c.1315G>C (p.Val439Leu) c.653G>C (n.653G>C) c.354G>C c.484G>C (p.Val162Leu) c.316G>C (p.Val106Leu) c.1372G>C (p.Val458Leu)
17	g.42543321G>T	CA399601851	NAGLU	c.1315G>T (p.Val439Leu) c.653G>T (n.653G>T) c.354G>T c.484G>T (p.Val162Leu) c.316G>T (p.Val106Leu) c.1372G>T (p.Val458Leu)
17	g.42543322T>A	CA399601854	NAGLU	c.1316T>A (p.Val439Glu) c.654T>A (n.654T>A) c.355T>A c.485T>A (p.Val162Glu) c.317T>A (p.Val106Glu) c.1373T>A (p.Val458Glu)
17	g.42543322T>C	CA399601856	NAGLU	c.1316T>C (p.Val439Ala) c.654T>C (n.654T>C) c.355T>C c.485T>C (p.Val162Ala) c.317T>C (p.Val106Ala) c.1373T>C (p.Val458Ala)
17	g.42543322T>G	CA399601858	NAGLU	c.1316T>G (p.Val439Gly) c.654T>G (n.654T>G) c.355T>G c.485T>G (p.Val162Gly) c.317T>G (p.Val106Gly) c.1373T>G (p.Val458Gly)
17	g.42543323del	CA2695225863	NAGLU	c.1317del (p.Gly440AlafsTer?) c.655del (n.655del) c.356del c.486del (p.Gly163AlafsTer?) c.318del (p.Gly107AlafsTer?) c.1374del (p.Gly459AlafsTer?)
17	g.42543323A>C	CA500216878	NAGLU	c.1317A>C (p.Val439=) c.655A>C (n.655A>C) c.356A>C c.486A>C (p.Val162=) c.318A>C (p.Val106=) c.1374A>C (p.Val458=)
17	g.42543323A>G	CA500216879	NAGLU	c.1317A>G (p.Val439=) c.655A>G (n.655A>G) c.356A>G c.486A>G (p.Val162=) c.318A>G (p.Val106=) c.1374A>G (p.Val458=)
17	g.42543323A>T	CA500216877	NAGLU	c.1317A>T (p.Val439=) c.655A>T (n.655A>T) c.356A>T c.486A>T (p.Val162=) c.318A>T (p.Val106=) c.1374A>T (p.Val458=)
17	g.42543324G>A	CA399601860	NAGLU	c.1318G>A (p.Gly440Ser) c.656G>A (n.656G>A) c.357G>A c.487G>A (p.Gly163Ser) c.319G>A (p.Gly107Ser) c.1375G>A (p.Gly459Ser)
17	g.42543324G>C	CA399601862	NAGLU	c.1318G>C (p.Gly440Arg) c.656G>C (n.656G>C) c.357G>C c.487G>C (p.Gly163Arg) c.319G>C (p.Gly107Arg) c.1375G>C (p.Gly459Arg)	ClinVar dbSNP
17	g.42543324G>T	CA399601864	NAGLU	c.1318G>T (p.Gly440Cys) c.656G>T (n.656G>T) c.357G>T c.487G>T (p.Gly163Cys) c.319G>T (p.Gly107Cys) c.1375G>T (p.Gly459Cys)
17	g.42543325G>A	CA399601865	NAGLU	c.1319G>A (p.Gly440Asp) c.657G>A (n.657G>A) c.358G>A c.488G>A (p.Gly163Asp) c.320G>A (p.Gly107Asp) c.1376G>A (p.Gly459Asp)
17	g.42543325G>C	CA399601866	NAGLU	c.1319G>C (p.Gly440Ala) c.657G>C (n.657G>C) c.358G>C c.488G>C (p.Gly163Ala) c.320G>C (p.Gly107Ala) c.1376G>C (p.Gly459Ala)
17	g.42543325G>T	CA399601868	NAGLU	c.1319G>T (p.Gly440Val) c.657G>T (n.657G>T) c.358G>T c.488G>T (p.Gly163Val) c.320G>T (p.Gly107Val) c.1376G>T (p.Gly459Val)
17	g.42543326C>A	CA500216882	NAGLU	c.1320C>A (p.Gly440=) c.658C>A (n.658C>A) c.359C>A c.489C>A (p.Gly163=) c.321C>A (p.Gly107=) c.1377C>A (p.Gly459=)	gnomAD v4
17	g.42543326C>G	CA500216881	NAGLU	c.1320C>G (p.Gly440=) c.658C>G (n.658C>G) c.359C>G c.489C>G (p.Gly163=) c.321C>G (p.Gly107=) c.1377C>G (p.Gly459=)
17	g.42543326C>T	CA500216880	NAGLU	c.1320C>T (p.Gly440=) c.658C>T (n.658C>T) c.359C>T c.489C>T (p.Gly163=) c.321C>T (p.Gly107=) c.1377C>T (p.Gly459=)	COSMIC
17	g.42543327A>C	CA399601871	NAGLU	c.1321A>C (p.Thr441Pro) c.659A>C (n.659A>C) c.360A>C c.490A>C (p.Thr164Pro) c.322A>C (p.Thr108Pro) c.1378A>C (p.Thr460Pro)
17	g.42543327A>G	CA399601873	NAGLU	c.1321A>G (p.Thr441Ala) c.659A>G (n.659A>G) c.360A>G c.490A>G (p.Thr164Ala) c.322A>G (p.Thr108Ala) c.1378A>G (p.Thr460Ala)
17	g.42543327A>T	CA399601869	NAGLU	c.1321A>T (p.Thr441Ser) c.659A>T (n.659A>T) c.360A>T c.490A>T (p.Thr164Ser) c.322A>T (p.Thr108Ser) c.1378A>T (p.Thr460Ser)
17	g.42543328C>A	CA399601875	NAGLU	c.1322C>A (p.Thr441Lys) c.660C>A (n.660C>A) c.361C>A c.491C>A (p.Thr164Lys) c.323C>A (p.Thr108Lys) c.1379C>A (p.Thr460Lys)
17	g.42543328C=	CA2260530213	NAGLU	c.1322C= (p.Thr441=) c.660C= (n.660C=) c.361C= c.491C= (p.Thr164=) c.323C= (p.Thr108=) c.1379C= (p.Thr460=)
17	g.42543328C>G	CA10603767	NAGLU	c.1322C>G (p.Thr441Arg) c.660C>G (n.660C>G) c.361C>G c.491C>G (p.Thr164Arg) c.323C>G (p.Thr108Arg) c.1379C>G (p.Thr460Arg)	ClinVar dbSNP gnomAD v4
17	g.42543328C>T	CA234308	NAGLU	c.1322C>T (p.Thr441Met) c.660C>T (n.660C>T) c.361C>T c.491C>T (p.Thr164Met) c.323C>T (p.Thr108Met) c.1379C>T (p.Thr460Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543329G>A	CA8576996	NAGLU	c.1323G>A (p.Thr441=) c.661G>A (n.661G>A) c.362G>A c.492G>A (p.Thr164=) c.324G>A (p.Thr108=) c.1380G>A (p.Thr460=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17	g.42543329G>C	CA500216883	NAGLU	c.1323G>C (p.Thr441=) c.661G>C (n.661G>C) c.362G>C c.492G>C (p.Thr164=) c.324G>C (p.Thr108=) c.1380G>C (p.Thr460=)
17	g.42543329G=	CA2260530214	NAGLU	c.1323G= (p.Thr441=) c.661G= (n.661G=) c.362G= c.492G= (p.Thr164=) c.324G= (p.Thr108=) c.1380G= (p.Thr460=)
17	g.42543329G>T	CA500216884	NAGLU	c.1323G>T (p.Thr441=) c.661G>T (n.661G>T) c.362G>T c.492G>T (p.Thr164=) c.324G>T (p.Thr108=) c.1380G>T (p.Thr460=)
17	g.42543330G>A	CA399601879	NAGLU	c.1324G>A (p.Gly442Ser) c.662G>A (n.662G>A) c.363G>A c.493G>A (p.Gly165Ser) c.325G>A (p.Gly109Ser) c.1381G>A (p.Gly461Ser)
17	g.42543330G>C	CA399601881	NAGLU	c.1324G>C (p.Gly442Arg) c.662G>C (n.662G>C) c.363G>C c.493G>C (p.Gly165Arg) c.325G>C (p.Gly109Arg) c.1381G>C (p.Gly461Arg)
17	g.42543330G>T	CA399601883	NAGLU	c.1324G>T (p.Gly442Cys) c.662G>T (n.662G>T) c.363G>T c.493G>T (p.Gly165Cys) c.325G>T (p.Gly109Cys) c.1381G>T (p.Gly461Cys)
17	g.42543331G>A	CA399601885	NAGLU	c.1325G>A (p.Gly442Asp) c.663G>A (n.663G>A) c.364G>A c.494G>A (p.Gly165Asp) c.326G>A (p.Gly109Asp) c.1382G>A (p.Gly461Asp)	dbSNP gnomAD v2
17	g.42543331G>C	CA399601889	NAGLU	c.1325G>C (p.Gly442Ala) c.663G>C (n.663G>C) c.364G>C c.494G>C (p.Gly165Ala) c.326G>C (p.Gly109Ala) c.1382G>C (p.Gly461Ala)
17	g.42543331G=	CA2260530215	NAGLU	c.1325G= (p.Gly442=) c.663G= (n.663G=) c.364G= c.494G= (p.Gly165=) c.326G= (p.Gly109=) c.1382G= (p.Gly461=)
17	g.42543331G>T	CA399601887	NAGLU	c.1325G>T (p.Gly442Val) c.663G>T (n.663G>T) c.364G>T c.494G>T (p.Gly165Val) c.326G>T (p.Gly109Val) c.1382G>T (p.Gly461Val)
17	g.42543332C>A	CA8576997	NAGLU	c.1326C>A (p.Gly442=) c.664C>A (n.664C>A) c.365C>A c.495C>A (p.Gly165=) c.327C>A (p.Gly109=) c.1383C>A (p.Gly461=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.42543332C=	CA2260530216	NAGLU	c.1326C= (p.Gly442=) c.664C= (n.664C=) c.365C= c.495C= (p.Gly165=) c.327C= (p.Gly109=) c.1383C= (p.Gly461=)
17	g.42543332C>G	CA500216885	NAGLU	c.1326C>G (p.Gly442=) c.664C>G (n.664C>G) c.365C>G c.495C>G (p.Gly165=) c.327C>G (p.Gly109=) c.1383C>G (p.Gly461=)
17	g.42543332C>T	CA500216886	NAGLU	c.1326C>T (p.Gly442=) c.664C>T (n.664C>T) c.365C>T c.495C>T (p.Gly165=) c.327C>T (p.Gly109=) c.1383C>T (p.Gly461=)
17	g.42543333A=	CA2260530217	NAGLU	c.1327A= (p.Met443=) c.665A= (n.665A=) c.366A= c.496A= (p.Met166=) c.328A= (p.Met110=) c.1384A= (p.Met462=)
17	g.42543333A>C	CA399601892	NAGLU	c.1327A>C (p.Met443Leu) c.665A>C (n.665A>C) c.366A>C c.496A>C (p.Met166Leu) c.328A>C (p.Met110Leu) c.1384A>C (p.Met462Leu)
17	g.42543333A>G	CA399601893	NAGLU	c.1327A>G (p.Met443Val) c.665A>G (n.665A>G) c.366A>G c.496A>G (p.Met166Val) c.328A>G (p.Met110Val) c.1384A>G (p.Met462Val)
17	g.42543333A>T	CA399601894	NAGLU	c.1327A>T (p.Met443Leu) c.665A>T (n.665A>T) c.366A>T c.496A>T (p.Met166Leu) c.328A>T (p.Met110Leu) c.1384A>T (p.Met462Leu)	dbSNP gnomAD v4
17	g.42543334T>A	CA399601898	NAGLU	c.1328T>A (p.Met443Lys) c.666T>A (n.666T>A) c.367T>A c.497T>A (p.Met166Lys) c.329T>A (p.Met110Lys) c.1385T>A (p.Met462Lys)
17	g.42543334T>C	CA399601901	NAGLU	c.1328T>C (p.Met443Thr) c.666T>C (n.666T>C) c.367T>C c.497T>C (p.Met166Thr) c.329T>C (p.Met110Thr) c.1385T>C (p.Met462Thr)	ClinVar dbSNP
17	g.42543334T>G	CA399601899	NAGLU	c.1328T>G (p.Met443Arg) c.666T>G (n.666T>G) c.367T>G c.497T>G (p.Met166Arg) c.329T>G (p.Met110Arg) c.1385T>G (p.Met462Arg)
17	g.42543334T=	CA2260530218	NAGLU	c.1328T= (p.Met443=) c.666T= (n.666T=) c.367T= c.497T= (p.Met166=) c.329T= (p.Met110=) c.1385T= (p.Met462=)
17	g.42543335G>A	CA399601903	NAGLU	c.1329G>A (p.Met443Ile) c.667G>A (n.667G>A) c.368G>A c.498G>A (p.Met166Ile) c.330G>A (p.Met110Ile) c.1386G>A (p.Met462Ile)	ClinVar dbSNP gnomAD v2
17	g.42543335G>C	CA399601904	NAGLU	c.1329G>C (p.Met443Ile) c.667G>C (n.667G>C) c.368G>C c.498G>C (p.Met166Ile) c.330G>C (p.Met110Ile) c.1386G>C (p.Met462Ile)
17	g.42543335G=	CA2260530219	NAGLU	c.1329G= (p.Met443=) c.667G= (n.667G=) c.368G= c.498G= (p.Met166=) c.330G= (p.Met110=) c.1386G= (p.Met462=)
17	g.42543335G>T	CA399601905	NAGLU	c.1329G>T (p.Met443Ile) c.667G>T (n.667G>T) c.368G>T c.498G>T (p.Met166Ile) c.330G>T (p.Met110Ile) c.1386G>T (p.Met462Ile)
17	g.42543336G>A	CA290780351	NAGLU	c.1330G>A (p.Ala444Thr) c.668G>A (n.668G>A) c.369G>A c.499G>A (p.Ala167Thr) c.331G>A (p.Ala111Thr) c.1387G>A (p.Ala463Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543336G>C	CA399601908	NAGLU	c.1330G>C (p.Ala444Pro) c.668G>C (n.668G>C) c.369G>C c.499G>C (p.Ala167Pro) c.331G>C (p.Ala111Pro) c.1387G>C (p.Ala463Pro)
17	g.42543336G=	CA2260530220	NAGLU	c.1330G= (p.Ala444=) c.668G= (n.668G=) c.369G= c.499G= (p.Ala167=) c.331G= (p.Ala111=) c.1387G= (p.Ala463=)
17	g.42543336G>T	CA399601910	NAGLU	c.1330G>T (p.Ala444Ser) c.668G>T (n.668G>T) c.369G>T c.499G>T (p.Ala167Ser) c.331G>T (p.Ala111Ser) c.1387G>T (p.Ala463Ser)	gnomAD v4
17	g.42543337C>A	CA8576999	NAGLU	c.1331C>A (p.Ala444Asp) c.669C>A (n.669C>A) c.370C>A c.500C>A (p.Ala167Asp) c.332C>A (p.Ala111Asp) c.1388C>A (p.Ala463Asp)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.42543337C=	CA2260530221	NAGLU	c.1331C= (p.Ala444=) c.669C= (n.669C=) c.370C= c.500C= (p.Ala167=) c.332C= (p.Ala111=) c.1388C= (p.Ala463=)
17	g.42543337C>G	CA399601913	NAGLU	c.1331C>G (p.Ala444Gly) c.669C>G (n.669C>G) c.370C>G c.500C>G (p.Ala167Gly) c.332C>G (p.Ala111Gly) c.1388C>G (p.Ala463Gly)	gnomAD v4
17	g.42543337C>T	CA8576998	NAGLU	c.1331C>T (p.Ala444Val) c.669C>T (n.669C>T) c.370C>T c.500C>T (p.Ala167Val) c.332C>T (p.Ala111Val) c.1388C>T (p.Ala463Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543341del	CA2637971192	NAGLU	c.1335del (p.Glu446ArgfsTer?) c.673del (n.673del) c.374del c.504del (p.Glu169ArgfsTer?) c.336del (p.Glu113ArgfsTer?) c.1392del (p.Glu465ArgfsTer?)	gnomAD v4
17	g.42543338C>A	CA500216888	NAGLU	c.1332C>A (p.Ala444=) c.670C>A (n.670C>A) c.371C>A c.501C>A (p.Ala167=) c.333C>A (p.Ala111=) c.1389C>A (p.Ala463=)
17	g.42543338C>G	CA500216889	NAGLU	c.1332C>G (p.Ala444=) c.670C>G (n.670C>G) c.371C>G c.501C>G (p.Ala167=) c.333C>G (p.Ala111=) c.1389C>G (p.Ala463=)
17	g.42543338C>T	CA500216887	NAGLU	c.1332C>T (p.Ala444=) c.670C>T (n.670C>T) c.371C>T c.501C>T (p.Ala167=) c.333C>T (p.Ala111=) c.1389C>T (p.Ala463=)	ClinVar dbSNP
17	g.42543339C>A	CA399601916	NAGLU	c.1333C>A (p.Pro445Thr) c.671C>A (n.671C>A) c.372C>A c.502C>A (p.Pro168Thr) c.334C>A (p.Pro112Thr) c.1390C>A (p.Pro464Thr)
17	g.42543339C=	CA2260530222	NAGLU	c.1333C= (p.Pro445=) c.671C= (n.671C=) c.372C= c.502C= (p.Pro168=) c.334C= (p.Pro112=) c.1390C= (p.Pro464=)
17	g.42543339C>G	CA399601918	NAGLU	c.1333C>G (p.Pro445Ala) c.671C>G (n.671C>G) c.372C>G c.502C>G (p.Pro168Ala) c.334C>G (p.Pro112Ala) c.1390C>G (p.Pro464Ala)
17	g.42543339C>T	CA8577000	NAGLU	c.1333C>T (p.Pro445Ser) c.671C>T (n.671C>T) c.372C>T c.502C>T (p.Pro168Ser) c.334C>T (p.Pro112Ser) c.1390C>T (p.Pro464Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.42543340C>A	CA399601923	NAGLU	c.1334C>A (p.Pro445His) c.672C>A (n.672C>A) c.373C>A c.503C>A (p.Pro168His) c.335C>A (p.Pro112His) c.1391C>A (p.Pro464His)
17	g.42543340C>G	CA399601925	NAGLU	c.1334C>G (p.Pro445Arg) c.672C>G (n.672C>G) c.373C>G c.503C>G (p.Pro168Arg) c.335C>G (p.Pro112Arg) c.1391C>G (p.Pro464Arg)
17	g.42543340C>T	CA399601921	NAGLU	c.1334C>T (p.Pro445Leu) c.672C>T (n.672C>T) c.373C>T c.503C>T (p.Pro168Leu) c.335C>T (p.Pro112Leu) c.1391C>T (p.Pro464Leu)
17	g.42543341C>A	CA500216891	NAGLU	c.1335C>A (p.Pro445=) c.673C>A (n.673C>A) c.374C>A c.504C>A (p.Pro168=) c.336C>A (p.Pro112=) c.1392C>A (p.Pro464=)
17	g.42543341C=	CA2260530223	NAGLU	c.1335C= (p.Pro445=) c.673C= (n.673C=) c.374C= c.504C= (p.Pro168=) c.336C= (p.Pro112=) c.1392C= (p.Pro464=)
17	g.42543341C>G	CA500216890	NAGLU	c.1335C>G (p.Pro445=) c.673C>G (n.673C>G) c.374C>G c.504C>G (p.Pro168=) c.336C>G (p.Pro112=) c.1392C>G (p.Pro464=)	ClinVar
17	g.42543341C>T	CA8577001	NAGLU	c.1335C>T (p.Pro445=) c.673C>T (n.673C>T) c.374C>T c.504C>T (p.Pro168=) c.336C>T (p.Pro112=) c.1392C>T (p.Pro464=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543342del	CA2573153973	NAGLU	c.1336del (p.Glu446ArgfsTer30) c.674del (n.674del) c.375del c.505del (p.Glu169ArgfsTer30) c.337del (p.Glu113ArgfsTer30) c.1393del (p.Glu465ArgfsTer30)	ClinVar dbSNP
17	g.42543342G>A	CA8577002	NAGLU	c.1336G>A (p.Glu446Lys) c.674G>A (n.674G>A) c.375G>A c.505G>A (p.Glu169Lys) c.337G>A (p.Glu113Lys) c.1393G>A (p.Glu465Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.42543342G>C	CA399601929	NAGLU	c.1336G>C (p.Glu446Gln) c.674G>C (n.674G>C) c.375G>C c.505G>C (p.Glu169Gln) c.337G>C (p.Glu113Gln) c.1393G>C (p.Glu465Gln)
17	g.42543342G=	CA2260530224	NAGLU	c.1336G= (p.Glu446=) c.674G= (n.674G=) c.375G= c.505G= (p.Glu169=) c.337G= (p.Glu113=) c.1393G= (p.Glu465=)
17	g.42543342G>T	CA399601928	NAGLU	c.1336G>T (p.Glu446Ter) c.674G>T (n.674G>T) c.375G>T c.505G>T (p.Glu169Ter) c.337G>T (p.Glu113Ter) c.1393G>T (p.Glu465Ter)
17	g.42543343A>C	CA399601932	NAGLU	c.1337A>C (p.Glu446Ala) c.675A>C (n.675A>C) c.376A>C c.506A>C (p.Glu169Ala) c.338A>C (p.Glu113Ala) c.1394A>C (p.Glu465Ala)
17	g.42543343A>G	CA399601933	NAGLU	c.1337A>G (p.Glu446Gly) c.675A>G (n.675A>G) c.376A>G c.506A>G (p.Glu169Gly) c.338A>G (p.Glu113Gly) c.1394A>G (p.Glu465Gly)	ClinVar
17	g.42543343A>T	CA399601934	NAGLU	c.1337A>T (p.Glu446Val) c.675A>T (n.675A>T) c.376A>T c.506A>T (p.Glu169Val) c.338A>T (p.Glu113Val) c.1394A>T (p.Glu465Val)
17	g.42543344G>A	CA500216892	NAGLU	c.1338G>A (p.Glu446=) c.676G>A (n.676G>A) c.377G>A c.507G>A (p.Glu169=) c.339G>A (p.Glu113=) c.1395G>A (p.Glu465=)	dbSNP gnomAD v3 gnomAD v4
17	g.42543344G>C	CA399601937	NAGLU	c.1338G>C (p.Glu446Asp) c.676G>C (n.676G>C) c.377G>C c.507G>C (p.Glu169Asp) c.339G>C (p.Glu113Asp) c.1395G>C (p.Glu465Asp)
17	g.42543344G=	CA2260530225	NAGLU	c.1338G= (p.Glu446=) c.676G= (n.676G=) c.377G= c.507G= (p.Glu169=) c.339G= (p.Glu113=) c.1395G= (p.Glu465=)
17	g.42543344G>T	CA399601939	NAGLU	c.1338G>T (p.Glu446Asp) c.676G>T (n.676G>T) c.377G>T c.507G>T (p.Glu169Asp) c.339G>T (p.Glu113Asp) c.1395G>T (p.Glu465Asp)	COSMIC
17	g.42543345G>A	CA399601940	NAGLU	c.1339G>A (p.Gly447Ser) c.677G>A (n.677G>A) c.378G>A c.508G>A (p.Gly170Ser) c.340G>A (p.Gly114Ser) c.1396G>A (p.Gly466Ser)
17	g.42543345G>C	CA399601941	NAGLU	c.1339G>C (p.Gly447Arg) c.677G>C (n.677G>C) c.378G>C c.508G>C (p.Gly170Arg) c.340G>C (p.Gly114Arg) c.1396G>C (p.Gly466Arg)
17	g.42543345G>T	CA399601943	NAGLU	c.1339G>T (p.Gly447Cys) c.677G>T (n.677G>T) c.378G>T c.508G>T (p.Gly170Cys) c.340G>T (p.Gly114Cys) c.1396G>T (p.Gly466Cys)
17	g.42543346G>A	CA399601946	NAGLU	c.1340G>A (p.Gly447Asp) c.678G>A (n.678G>A) c.379G>A c.509G>A (p.Gly170Asp) c.341G>A (p.Gly114Asp) c.1397G>A (p.Gly466Asp)
17	g.42543346G>C	CA399601947	NAGLU	c.1340G>C (p.Gly447Ala) c.678G>C (n.678G>C) c.379G>C c.509G>C (p.Gly170Ala) c.341G>C (p.Gly114Ala) c.1397G>C (p.Gly466Ala)
17	g.42543346G>T	CA399601949	NAGLU	c.1340G>T (p.Gly447Val) c.678G>T (n.678G>T) c.379G>T c.509G>T (p.Gly170Val) c.341G>T (p.Gly114Val) c.1397G>T (p.Gly466Val)
17	g.42543347C>A	CA500216894	NAGLU	c.1341C>A (p.Gly447=) c.679C>A (n.679C>A) c.380C>A c.510C>A (p.Gly170=) c.342C>A (p.Gly114=) c.1398C>A (p.Gly466=)
17	g.42543347C>G	CA500216893	NAGLU	c.1341C>G (p.Gly447=) c.679C>G (n.679C>G) c.380C>G c.510C>G (p.Gly170=) c.342C>G (p.Gly114=) c.1398C>G (p.Gly466=)
17	g.42543347C>T	CA500216895	NAGLU	c.1341C>T (p.Gly447=) c.679C>T (n.679C>T) c.380C>T c.510C>T (p.Gly170=) c.342C>T (p.Gly114=) c.1398C>T (p.Gly466=)
17	g.42543348A>C	CA399601954	NAGLU	c.1342A>C (p.Ile448Leu) c.680A>C (n.680A>C) c.381A>C c.511A>C (p.Ile171Leu) c.343A>C (p.Ile115Leu) c.1399A>C (p.Ile467Leu)
17	g.42543348A>G	CA399601953	NAGLU	c.1342A>G (p.Ile448Val) c.680A>G (n.680A>G) c.381A>G c.511A>G (p.Ile171Val) c.343A>G (p.Ile115Val) c.1399A>G (p.Ile467Val)	gnomAD v4
17	g.42543348A>T	CA399601951	NAGLU	c.1342A>T (p.Ile448Phe) c.680A>T (n.680A>T) c.381A>T c.511A>T (p.Ile171Phe) c.343A>T (p.Ile115Phe) c.1399A>T (p.Ile467Phe)
17	g.42543349T>A	CA399601955	NAGLU	c.1343T>A (p.Ile448Asn) c.681T>A (n.681T>A) c.382T>A c.512T>A (p.Ile171Asn) c.344T>A (p.Ile115Asn) c.1400T>A (p.Ile467Asn)
17	g.42543349T>C	CA399601957	NAGLU	c.1343T>C (p.Ile448Thr) c.681T>C (n.681T>C) c.382T>C c.512T>C (p.Ile171Thr) c.344T>C (p.Ile115Thr) c.1400T>C (p.Ile467Thr)	gnomAD v4
17	g.42543349T>G	CA399601959	NAGLU	c.1343T>G (p.Ile448Ser) c.681T>G (n.681T>G) c.382T>G c.512T>G (p.Ile171Ser) c.344T>G (p.Ile115Ser) c.1400T>G (p.Ile467Ser)
17	g.42543350C>A	CA500216897	NAGLU	c.1344C>A (p.Ile448=) c.682C>A (n.682C>A) c.383C>A c.513C>A (p.Ile171=) c.345C>A (p.Ile115=) c.1401C>A (p.Ile467=)
17	g.42543350C=	CA2260530226	NAGLU	c.1344C= (p.Ile448=) c.682C= (n.682C=) c.383C= c.513C= (p.Ile171=) c.345C= (p.Ile115=) c.1401C= (p.Ile467=)
17	g.42543350C>G	CA399601961	NAGLU	c.1344C>G (p.Ile448Met) c.682C>G (n.682C>G) c.383C>G c.513C>G (p.Ile171Met) c.345C>G (p.Ile115Met) c.1401C>G (p.Ile467Met)	dbSNP
17	g.42543350C>T	CA500216896	NAGLU	c.1344C>T (p.Ile448=) c.682C>T (n.682C>T) c.383C>T c.513C>T (p.Ile171=) c.345C>T (p.Ile115=) c.1401C>T (p.Ile467=)	ClinVar dbSNP
17	g.42543351A>C	CA399601963	NAGLU	c.1345A>C (p.Ser449Arg) c.683A>C (n.683A>C) c.384A>C c.514A>C (p.Ser172Arg) c.346A>C (p.Ser116Arg) c.1402A>C (p.Ser468Arg)
17	g.42543351A>G	CA399601965	NAGLU	c.1345A>G (p.Ser449Gly) c.683A>G (n.683A>G) c.384A>G c.514A>G (p.Ser172Gly) c.346A>G (p.Ser116Gly) c.1402A>G (p.Ser468Gly)
17	g.42543351A>T	CA399601967	NAGLU	c.1345A>T (p.Ser449Cys) c.683A>T (n.683A>T) c.384A>T c.514A>T (p.Ser172Cys) c.346A>T (p.Ser116Cys) c.1402A>T (p.Ser468Cys)
17	g.42543352G>A	CA8577003	NAGLU	c.1346G>A (p.Ser449Asn) c.684G>A (n.684G>A) c.385G>A c.515G>A (p.Ser172Asn) c.347G>A (p.Ser116Asn) c.1403G>A (p.Ser468Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543352G>C	CA399601969	NAGLU	c.1346G>C (p.Ser449Thr) c.684G>C (n.684G>C) c.385G>C c.515G>C (p.Ser172Thr) c.347G>C (p.Ser116Thr) c.1403G>C (p.Ser468Thr)
17	g.42543352G=	CA2260530227	NAGLU	c.1346G= (p.Ser449=) c.684G= (n.684G=) c.385G= c.515G= (p.Ser172=) c.347G= (p.Ser116=) c.1403G= (p.Ser468=)
17	g.42543352G>T	CA399601971	NAGLU	c.1346G>T (p.Ser449Ile) c.684G>T (n.684G>T) c.385G>T c.515G>T (p.Ser172Ile) c.347G>T (p.Ser116Ile) c.1403G>T (p.Ser468Ile)
17	g.42543353C>A	CA399601973	NAGLU	c.1347C>A (p.Ser449Arg) c.685C>A (n.685C>A) c.386C>A c.516C>A (p.Ser172Arg) c.348C>A (p.Ser116Arg) c.1404C>A (p.Ser468Arg)
17	g.42543353C>G	CA399601975	NAGLU	c.1347C>G (p.Ser449Arg) c.685C>G (n.685C>G) c.386C>G c.516C>G (p.Ser172Arg) c.348C>G (p.Ser116Arg) c.1404C>G (p.Ser468Arg)
17	g.42543353C>T	CA500216898	NAGLU	c.1347C>T (p.Ser449=) c.685C>T (n.685C>T) c.386C>T c.516C>T (p.Ser172=) c.348C>T (p.Ser116=) c.1404C>T (p.Ser468=)	ClinVar dbSNP
17	g.42543354C>A	CA399601980	NAGLU	c.1348C>A (p.Gln450Lys) c.686C>A (n.686C>A) c.387C>A c.517C>A (p.Gln173Lys) c.349C>A (p.Gln117Lys) c.1405C>A (p.Gln469Lys)
17	g.42543354C=	CA2260530228	NAGLU	c.1348C= (p.Gln450=) c.686C= (n.686C=) c.387C= c.517C= (p.Gln173=) c.349C= (p.Gln117=) c.1405C= (p.Gln469=)
17	g.42543354C>G	CA399601978	NAGLU	c.1348C>G (p.Gln450Glu) c.686C>G (n.686C>G) c.387C>G c.517C>G (p.Gln173Glu) c.349C>G (p.Gln117Glu) c.1405C>G (p.Gln469Glu)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42543354C>T	CA399601977	NAGLU	c.1348C>T (p.Gln450Ter) c.686C>T (n.686C>T) c.387C>T c.517C>T (p.Gln173Ter) c.349C>T (p.Gln117Ter) c.1405C>T (p.Gln469Ter)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.42543355A>C	CA399601982	NAGLU	c.1349A>C (p.Gln450Pro) c.687A>C (n.687A>C) c.388A>C c.518A>C (p.Gln173Pro) c.350A>C (p.Gln117Pro) c.1406A>C (p.Gln469Pro)
17	g.42543355A>G	CA399601984	NAGLU	c.1349A>G (p.Gln450Arg) c.687A>G (n.687A>G) c.388A>G c.518A>G (p.Gln173Arg) c.350A>G (p.Gln117Arg) c.1406A>G (p.Gln469Arg)	gnomAD v4
17	g.42543355A>T	CA399601986	NAGLU	c.1349A>T (p.Gln450Leu) c.687A>T (n.687A>T) c.388A>T c.518A>T (p.Gln173Leu) c.350A>T (p.Gln117Leu) c.1406A>T (p.Gln469Leu)
17	g.42543356G>A	CA8577004	NAGLU	c.1350G>A (p.Gln450=) c.688G>A (n.688G>A) c.389G>A c.519G>A (p.Gln173=) c.351G>A (p.Gln117=) c.1407G>A (p.Gln469=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543356G>C	CA399601989	NAGLU	c.1350G>C (p.Gln450His) c.688G>C (n.688G>C) c.389G>C c.519G>C (p.Gln173His) c.351G>C (p.Gln117His) c.1407G>C (p.Gln469His)
17	g.42543356G=	CA2260530229	NAGLU	c.1350G= (p.Gln450=) c.688G= (n.688G=) c.389G= c.519G= (p.Gln173=) c.351G= (p.Gln117=) c.1407G= (p.Gln469=)
17	g.42543356G>T	CA399601991	NAGLU	c.1350G>T (p.Gln450His) c.688G>T (n.688G>T) c.389G>T c.519G>T (p.Gln173His) c.351G>T (p.Gln117His) c.1407G>T (p.Gln469His)	dbSNP gnomAD v2 gnomAD v4
17	g.42543356_42543357insCCCGC	CA919842926	NAGLU	c.1350_1351insCCCGC (p.Asn451ProfsTer27) c.688_689insCCCGC (n.688_689insCCCGC) c.389_390insCCCGC c.519_520insCCCGC (p.Asn174ProfsTer27) c.351_352insCCCGC (p.Asn118ProfsTer27) c.1407_1408insCCCGC (p.Asn470ProfsTer27)	dbSNP
17	g.42543357A=	CA2260530230	NAGLU	c.1351A= (p.Asn451=) c.689A= (n.689A=) c.390A= c.520A= (p.Asn174=) c.352A= (p.Asn118=) c.1408A= (p.Asn470=)
17	g.42543357A>C	CA399601997	NAGLU	c.1351A>C (p.Asn451His) c.689A>C (n.689A>C) c.390A>C c.520A>C (p.Asn174His) c.352A>C (p.Asn118His) c.1408A>C (p.Asn470His)
17	g.42543357A>G	CA399601996	NAGLU	c.1351A>G (p.Asn451Asp) c.689A>G (n.689A>G) c.390A>G c.520A>G (p.Asn174Asp) c.352A>G (p.Asn118Asp) c.1408A>G (p.Asn470Asp)
17	g.42543357A>T	CA399601994	NAGLU	c.1351A>T (p.Asn451Tyr) c.689A>T (n.689A>T) c.390A>T c.520A>T (p.Asn174Tyr) c.352A>T (p.Asn118Tyr) c.1408A>T (p.Asn470Tyr)
17	g.42543358dup	CA772114579	NAGLU	c.1352dup (p.Asn451LysfsTer10) c.690dup (n.690dup) c.391dup c.521dup (p.Asn174LysfsTer10) c.353dup (p.Asn118LysfsTer10) c.1409dup (p.Asn470LysfsTer10)	dbSNP
17	g.42543357_42543358insC	CA919842927	NAGLU	c.1351_1352insC (p.Asn451ThrfsTer10) c.689_690insC (n.689_690insC) c.390_391insC c.520_521insC (p.Asn174ThrfsTer10) c.352_353insC (p.Asn118ThrfsTer10) c.1408_1409insC (p.Asn470ThrfsTer10)	dbSNP
17	g.42543358A>C	CA399602000	NAGLU	c.1352A>C (p.Asn451Thr) c.690A>C (n.690A>C) c.391A>C c.521A>C (p.Asn174Thr) c.353A>C (p.Asn118Thr) c.1409A>C (p.Asn470Thr)
17	g.42543358A>G	CA399602001	NAGLU	c.1352A>G (p.Asn451Ser) c.690A>G (n.690A>G) c.391A>G c.521A>G (p.Asn174Ser) c.353A>G (p.Asn118Ser) c.1409A>G (p.Asn470Ser)
17	g.42543358A>T	CA399602003	NAGLU	c.1352A>T (p.Asn451Ile) c.690A>T (n.690A>T) c.391A>T c.521A>T (p.Asn174Ile) c.353A>T (p.Asn118Ile) c.1409A>T (p.Asn470Ile)

Number of alleles fetched