Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.42543706C>A	CA399604528	NAGLU	c.1700C>A (p.Ala567Glu) c.1038C>A (n.1038C>A) c.869C>A (p.Ala290Glu) c.701C>A (p.Ala234Glu) c.1757C>A (p.Ala586Glu)
17	g.42543706C=	CA2260530419	NAGLU	c.1700C= (p.Ala567=) c.1038C= (n.1038C=) c.869C= (p.Ala290=) c.701C= (p.Ala234=) c.1757C= (p.Ala586=)
17	g.42543706C>G	CA399604527	NAGLU	c.1700C>G (p.Ala567Gly) c.1038C>G (n.1038C>G) c.869C>G (p.Ala290Gly) c.701C>G (p.Ala234Gly) c.1757C>G (p.Ala586Gly)
17	g.42543706C>T	CA399604525	NAGLU	c.1700C>T (p.Ala567Val) c.1038C>T (n.1038C>T) c.869C>T (p.Ala290Val) c.701C>T (p.Ala234Val) c.1757C>T (p.Ala586Val)	dbSNP gnomAD v2 gnomAD v4
17	g.42543707A=	CA2260530420	NAGLU	c.1701A= (p.Ala567=) c.1039A= (n.1039A=) c.870A= (p.Ala290=) c.702A= (p.Ala234=) c.1758A= (p.Ala586=)
17	g.42543707A>C	CA500217246	NAGLU	c.1701A>C (p.Ala567=) c.1039A>C (n.1039A>C) c.870A>C (p.Ala290=) c.702A>C (p.Ala234=) c.1758A>C (p.Ala586=)
17	g.42543707A>G	CA8577080	NAGLU	c.1701A>G (p.Ala567=) c.1039A>G (n.1039A>G) c.870A>G (p.Ala290=) c.702A>G (p.Ala234=) c.1758A>G (p.Ala586=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543707A>T	CA500217245	NAGLU	c.1701A>T (p.Ala567=) c.1039A>T (n.1039A>T) c.870A>T (p.Ala290=) c.702A>T (p.Ala234=) c.1758A>T (p.Ala586=)
17	g.42543708G>A	CA399604530	NAGLU	c.1702G>A (p.Val568Met) c.1040G>A (n.1040G>A) c.871G>A (p.Val291Met) c.703G>A (p.Val235Met) c.1759G>A (p.Val587Met)
17	g.42543708G>C	CA399604531	NAGLU	c.1702G>C (p.Val568Leu) c.1040G>C (n.1040G>C) c.871G>C (p.Val291Leu) c.703G>C (p.Val235Leu) c.1759G>C (p.Val587Leu)
17	g.42543708G>T	CA399604533	NAGLU	c.1702G>T (p.Val568Leu) c.1040G>T (n.1040G>T) c.871G>T (p.Val291Leu) c.703G>T (p.Val235Leu) c.1759G>T (p.Val587Leu)
17	g.42543709T>A	CA399604535	NAGLU	c.1703T>A (p.Val568Glu) c.1041T>A (n.1041T>A) c.872T>A (p.Val291Glu) c.704T>A (p.Val235Glu) c.1760T>A (p.Val587Glu)
17	g.42543709T>C	CA399604537	NAGLU	c.1703T>C (p.Val568Ala) c.1041T>C (n.1041T>C) c.872T>C (p.Val291Ala) c.704T>C (p.Val235Ala) c.1760T>C (p.Val587Ala)	gnomAD v4
17	g.42543709T>G	CA8577081	NAGLU	c.1703T>G (p.Val568Gly) c.1041T>G (n.1041T>G) c.872T>G (p.Val291Gly) c.704T>G (p.Val235Gly) c.1760T>G (p.Val587Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543709T=	CA2260530421	NAGLU	c.1703T= (p.Val568=) c.1041T= (n.1041T=) c.872T= (p.Val291=) c.704T= (p.Val235=) c.1760T= (p.Val587=)
17	g.42543710G>A	CA500217184	NAGLU	c.1704G>A (p.Val568=) c.1042G>A (n.1042G>A) c.873G>A (p.Val291=) c.705G>A (p.Val235=) c.1761G>A (p.Val587=)	ClinVar gnomAD v4
17	g.42543710G>C	CA500217185	NAGLU	c.1704G>C (p.Val568=) c.1042G>C (n.1042G>C) c.873G>C (p.Val291=) c.705G>C (p.Val235=) c.1761G>C (p.Val587=)
17	g.42543710G>T	CA500217182	NAGLU	c.1704G>T (p.Val568=) c.1042G>T (n.1042G>T) c.873G>T (p.Val291=) c.705G>T (p.Val235=) c.1761G>T (p.Val587=)
17	g.42543711C>A	CA399604538	NAGLU	c.1705C>A (p.Gln569Lys) c.1043C>A (n.1043C>A) c.874C>A (p.Gln292Lys) c.706C>A (p.Gln236Lys) c.1762C>A (p.Gln588Lys)
17	g.42543711C=	CA2260530422	NAGLU	c.1705C= (p.Gln569=) c.1043C= (n.1043C=) c.874C= (p.Gln292=) c.706C= (p.Gln236=) c.1762C= (p.Gln588=)
17	g.42543711C>G	CA399604539	NAGLU	c.1705C>G (p.Gln569Glu) c.1043C>G (n.1043C>G) c.874C>G (p.Gln292Glu) c.706C>G (p.Gln236Glu) c.1762C>G (p.Gln588Glu)
17	g.42543711C>T	CA399604541	NAGLU	c.1705C>T (p.Gln569Ter) c.1043C>T (n.1043C>T) c.874C>T (p.Gln292Ter) c.706C>T (p.Gln236Ter) c.1762C>T (p.Gln588Ter)	ClinVar dbSNP gnomAD v4
17	g.42543712A=	CA2260530423	NAGLU	c.1706A= (p.Gln569=) c.1044A= (n.1044A=) c.875A= (p.Gln292=) c.707A= (p.Gln236=) c.1763A= (p.Gln588=)
17	g.42543712A>C	CA399604543	NAGLU	c.1706A>C (p.Gln569Pro) c.1044A>C (n.1044A>C) c.875A>C (p.Gln292Pro) c.707A>C (p.Gln236Pro) c.1763A>C (p.Gln588Pro)
17	g.42543712A>G	CA399604544	NAGLU	c.1706A>G (p.Gln569Arg) c.1044A>G (n.1044A>G) c.875A>G (p.Gln292Arg) c.707A>G (p.Gln236Arg) c.1763A>G (p.Gln588Arg)	dbSNP gnomAD v4
17	g.42543712A>T	CA399604545	NAGLU	c.1706A>T (p.Gln569Leu) c.1044A>T (n.1044A>T) c.875A>T (p.Gln292Leu) c.707A>T (p.Gln236Leu) c.1763A>T (p.Gln588Leu)
17	g.42543713G>A	CA500217190	NAGLU	c.1707G>A (p.Gln569=) c.1045G>A (n.1045G>A) c.876G>A (p.Gln292=) c.708G>A (p.Gln236=) c.1764G>A (p.Gln588=)	ClinVar dbSNP
17	g.42543713G>C	CA399604547	NAGLU	c.1707G>C (p.Gln569His) c.1045G>C (n.1045G>C) c.876G>C (p.Gln292His) c.708G>C (p.Gln236His) c.1764G>C (p.Gln588His)
17	g.42543713G=	CA2260530424	NAGLU	c.1707G= (p.Gln569=) c.1045G= (n.1045G=) c.876G= (p.Gln292=) c.708G= (p.Gln236=) c.1764G= (p.Gln588=)
17	g.42543713G>T	CA399604549	NAGLU	c.1707G>T (p.Gln569His) c.1045G>T (n.1045G>T) c.876G>T (p.Gln292His) c.708G>T (p.Gln236His) c.1764G>T (p.Gln588His)	gnomAD v4
17	g.42543714G>A	CA399604551	NAGLU	c.1708G>A (p.Glu570Lys) c.1046G>A (n.1046G>A) c.877G>A (p.Glu293Lys) c.709G>A (p.Glu237Lys) c.1765G>A (p.Glu589Lys)
17	g.42543714G>C	CA399604552	NAGLU	c.1708G>C (p.Glu570Gln) c.1046G>C (n.1046G>C) c.877G>C (p.Glu293Gln) c.709G>C (p.Glu237Gln) c.1765G>C (p.Glu589Gln)
17	g.42543714G=	CA2260530425	NAGLU	c.1708G= (p.Glu570=) c.1046G= (n.1046G=) c.877G= (p.Glu293=) c.709G= (p.Glu237=) c.1765G= (p.Glu589=)
17	g.42543714G>T	CA399604554	NAGLU	c.1708G>T (p.Glu570Ter) c.1046G>T (n.1046G>T) c.877G>T (p.Glu293Ter) c.709G>T (p.Glu237Ter) c.1765G>T (p.Glu589Ter)	ClinVar dbSNP
17	g.42543715A=	CA2260530426	NAGLU	c.1709A= (p.Glu570=) c.1047A= (n.1047A=) c.878A= (p.Glu293=) c.710A= (p.Glu237=) c.1766A= (p.Glu589=)
17	g.42543715A>C	CA290780974	NAGLU	c.1709A>C (p.Glu570Ala) c.1047A>C (n.1047A>C) c.878A>C (p.Glu293Ala) c.710A>C (p.Glu237Ala) c.1766A>C (p.Glu589Ala)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543715A>G	CA399604557	NAGLU	c.1709A>G (p.Glu570Gly) c.1047A>G (n.1047A>G) c.878A>G (p.Glu293Gly) c.710A>G (p.Glu237Gly) c.1766A>G (p.Glu589Gly)
17	g.42543715A>T	CA399604558	NAGLU	c.1709A>T (p.Glu570Val) c.1047A>T (n.1047A>T) c.878A>T (p.Glu293Val) c.710A>T (p.Glu237Val) c.1766A>T (p.Glu589Val)
17	g.42543716G>A	CA500217198	NAGLU	c.1710G>A (p.Glu570=) c.1048G>A (n.1048G>A) c.879G>A (p.Glu293=) c.711G>A (p.Glu237=) c.1767G>A (p.Glu589=)	dbSNP gnomAD v3 gnomAD v4
17	g.42543716G>C	CA399604561	NAGLU	c.1710G>C (p.Glu570Asp) c.1048G>C (n.1048G>C) c.879G>C (p.Glu293Asp) c.711G>C (p.Glu237Asp) c.1767G>C (p.Glu589Asp)
17	g.42543716G=	CA2260530427	NAGLU	c.1710G= (p.Glu570=) c.1048G= (n.1048G=) c.879G= (p.Glu293=) c.711G= (p.Glu237=) c.1767G= (p.Glu589=)
17	g.42543716G>T	CA399604563	NAGLU	c.1710G>T (p.Glu570Asp) c.1048G>T (n.1048G>T) c.879G>T (p.Glu293Asp) c.711G>T (p.Glu237Asp) c.1767G>T (p.Glu589Asp)	ClinVar dbSNP
17	g.42543717C>A	CA399604565	NAGLU	c.1711C>A (p.Leu571Met) c.1049C>A (n.1049C>A) c.880C>A (p.Leu294Met) c.712C>A (p.Leu238Met) c.1768C>A (p.Leu590Met)
17	g.42543717C>G	CA399604566	NAGLU	c.1711C>G (p.Leu571Val) c.1049C>G (n.1049C>G) c.880C>G (p.Leu294Val) c.712C>G (p.Leu238Val) c.1768C>G (p.Leu590Val)
17	g.42543717C>T	CA500217204	NAGLU	c.1711C>T (p.Leu571=) c.1049C>T (n.1049C>T) c.880C>T (p.Leu294=) c.712C>T (p.Leu238=) c.1768C>T (p.Leu590=)	ClinVar gnomAD v4
17	g.42543718T>A	CA399604569	NAGLU	c.1712T>A (p.Leu571Gln) c.1050T>A (n.1050T>A) c.881T>A (p.Leu294Gln) c.713T>A (p.Leu238Gln) c.1769T>A (p.Leu590Gln)
17	g.42543718T>C	CA290780978	NAGLU	c.1712T>C (p.Leu571Pro) c.1050T>C (n.1050T>C) c.881T>C (p.Leu294Pro) c.713T>C (p.Leu238Pro) c.1769T>C (p.Leu590Pro)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42543718T>G	CA399604571	NAGLU	c.1712T>G (p.Leu571Arg) c.1050T>G (n.1050T>G) c.881T>G (p.Leu294Arg) c.713T>G (p.Leu238Arg) c.1769T>G (p.Leu590Arg)
17	g.42543718T=	CA2260530428	NAGLU	c.1712T= (p.Leu571=) c.1050T= (n.1050T=) c.881T= (p.Leu294=) c.713T= (p.Leu238=) c.1769T= (p.Leu590=)
17	g.42543719G>A	CA500217213	NAGLU	c.1713G>A (p.Leu571=) c.1051G>A (n.1051G>A) c.882G>A (p.Leu294=) c.714G>A (p.Leu238=) c.1770G>A (p.Leu590=)
17	g.42543719G>C	CA500217214	NAGLU	c.1713G>C (p.Leu571=) c.1051G>C (n.1051G>C) c.882G>C (p.Leu294=) c.714G>C (p.Leu238=) c.1770G>C (p.Leu590=)
17	g.42543719G>T	CA500217211	NAGLU	c.1713G>T (p.Leu571=) c.1051G>T (n.1051G>T) c.882G>T (p.Leu294=) c.714G>T (p.Leu238=) c.1770G>T (p.Leu590=)
17	g.42543720G>A	CA399604574	NAGLU	c.1714G>A (p.Val572Ile) c.1052G>A (n.1052G>A) c.883G>A (p.Val295Ile) c.715G>A (p.Val239Ile) c.1771G>A (p.Val591Ile)	gnomAD v4
17	g.42543720G>C	CA399604578	NAGLU	c.1714G>C (p.Val572Leu) c.1052G>C (n.1052G>C) c.883G>C (p.Val295Leu) c.715G>C (p.Val239Leu) c.1771G>C (p.Val591Leu)
17	g.42543720G>T	CA399604576	NAGLU	c.1714G>T (p.Val572Phe) c.1052G>T (n.1052G>T) c.883G>T (p.Val295Phe) c.715G>T (p.Val239Phe) c.1771G>T (p.Val591Phe)	gnomAD v4
17	g.42543721T>A	CA399604579	NAGLU	c.1715T>A (p.Val572Asp) c.1053T>A (n.1053T>A) c.884T>A (p.Val295Asp) c.716T>A (p.Val239Asp) c.1772T>A (p.Val591Asp)
17	g.42543721T>C	CA399604580	NAGLU	c.1715T>C (p.Val572Ala) c.1053T>C (n.1053T>C) c.884T>C (p.Val295Ala) c.716T>C (p.Val239Ala) c.1772T>C (p.Val591Ala)
17	g.42543721T>G	CA399604582	NAGLU	c.1715T>G (p.Val572Gly) c.1053T>G (n.1053T>G) c.884T>G (p.Val295Gly) c.716T>G (p.Val239Gly) c.1772T>G (p.Val591Gly)	dbSNP
17	g.42543721T=	CA2260530429	NAGLU	c.1715T= (p.Val572=) c.1053T= (n.1053T=) c.884T= (p.Val295=) c.716T= (p.Val239=) c.1772T= (p.Val591=)
17	g.42543722C>A	CA500217224	NAGLU	c.1716C>A (p.Val572=) c.1054C>A (n.1054C>A) c.885C>A (p.Val295=) c.717C>A (p.Val239=) c.1773C>A (p.Val591=)	gnomAD v4
17	g.42543722C>G	CA500217222	NAGLU	c.1716C>G (p.Val572=) c.1054C>G (n.1054C>G) c.885C>G (p.Val295=) c.717C>G (p.Val239=) c.1773C>G (p.Val591=)
17	g.42543722C>T	CA500217223	NAGLU	c.1716C>T (p.Val572=) c.1054C>T (n.1054C>T) c.885C>T (p.Val295=) c.717C>T (p.Val239=) c.1773C>T (p.Val591=)
17	g.42543723A=	CA2260530430	NAGLU	c.1717A= (p.Ser573=) c.1055A= (n.1055A=) c.886A= (p.Ser296=) c.718A= (p.Ser240=) c.1774A= (p.Ser592=)
17	g.42543723A>C	CA399604584	NAGLU	c.1717A>C (p.Ser573Arg) c.1055A>C (n.1055A>C) c.886A>C (p.Ser296Arg) c.718A>C (p.Ser240Arg) c.1774A>C (p.Ser592Arg)
17	g.42543723A>G	CA8577082	NAGLU	c.1717A>G (p.Ser573Gly) c.1055A>G (n.1055A>G) c.886A>G (p.Ser296Gly) c.718A>G (p.Ser240Gly) c.1774A>G (p.Ser592Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543723A>T	CA399604587	NAGLU	c.1717A>T (p.Ser573Cys) c.1055A>T (n.1055A>T) c.886A>T (p.Ser296Cys) c.718A>T (p.Ser240Cys) c.1774A>T (p.Ser592Cys)
17	g.42543724G>A	CA399604589	NAGLU	c.1718G>A (p.Ser573Asn) c.1056G>A (n.1056G>A) c.887G>A (p.Ser296Asn) c.719G>A (p.Ser240Asn) c.1775G>A (p.Ser592Asn)
17	g.42543724G>C	CA399604590	NAGLU	c.1718G>C (p.Ser573Thr) c.1056G>C (n.1056G>C) c.887G>C (p.Ser296Thr) c.719G>C (p.Ser240Thr) c.1775G>C (p.Ser592Thr)
17	g.42543724G=	CA2260530431	NAGLU	c.1718G= (p.Ser573=) c.1056G= (n.1056G=) c.887G= (p.Ser296=) c.719G= (p.Ser240=) c.1775G= (p.Ser592=)
17	g.42543724G>T	CA399604591	NAGLU	c.1718G>T (p.Ser573Ile) c.1056G>T (n.1056G>T) c.887G>T (p.Ser296Ile) c.719G>T (p.Ser240Ile) c.1775G>T (p.Ser592Ile)	dbSNP gnomAD v4
17	g.42543725C>A	CA399604593	NAGLU	c.1719C>A (p.Ser573Arg) c.1057C>A (n.1057C>A) c.888C>A (p.Ser296Arg) c.720C>A (p.Ser240Arg) c.1776C>A (p.Ser592Arg)	dbSNP gnomAD v2
17	g.42543725C=	CA2260530432	NAGLU	c.1719C= (p.Ser573=) c.1057C= (n.1057C=) c.888C= (p.Ser296=) c.720C= (p.Ser240=) c.1776C= (p.Ser592=)
17	g.42543725C>G	CA399604595	NAGLU	c.1719C>G (p.Ser573Arg) c.1057C>G (n.1057C>G) c.888C>G (p.Ser296Arg) c.720C>G (p.Ser240Arg) c.1776C>G (p.Ser592Arg)
17	g.42543725C>T	CA500217231	NAGLU	c.1719C>T (p.Ser573=) c.1057C>T (n.1057C>T) c.888C>T (p.Ser296=) c.720C>T (p.Ser240=) c.1776C>T (p.Ser592=)	ClinVar dbSNP COSMIC
17	g.42543726T>A	CA399604598	NAGLU	c.1720T>A (p.Leu574Met) c.1058T>A (n.1058T>A) c.889T>A (p.Leu297Met) c.721T>A (p.Leu241Met) c.1777T>A (p.Leu593Met)
17	g.42543726T>C	CA500217233	NAGLU	c.1720T>C (p.Leu574=) c.1058T>C (n.1058T>C) c.889T>C (p.Leu297=) c.721T>C (p.Leu241=) c.1777T>C (p.Leu593=)	gnomAD v4
17	g.42543726T>G	CA399604597	NAGLU	c.1720T>G (p.Leu574Val) c.1058T>G (n.1058T>G) c.889T>G (p.Leu297Val) c.721T>G (p.Leu241Val) c.1777T>G (p.Leu593Val)
17	g.42543727T>A	CA399604600	NAGLU	c.1721T>A (p.Leu574Ter) c.1059T>A (n.1059T>A) c.890T>A (p.Leu297Ter) c.722T>A (p.Leu241Ter) c.1778T>A (p.Leu593Ter)
17	g.42543727T>C	CA399604604	NAGLU	c.1721T>C (p.Leu574Ser) c.1059T>C (n.1059T>C) c.890T>C (p.Leu297Ser) c.722T>C (p.Leu241Ser) c.1778T>C (p.Leu593Ser)	gnomAD v4
17	g.42543727T>G	CA399604602	NAGLU	c.1721T>G (p.Leu574Trp) c.1059T>G (n.1059T>G) c.890T>G (p.Leu297Trp) c.722T>G (p.Leu241Trp) c.1778T>G (p.Leu593Trp)
17	g.42543728G>A	CA500217240	NAGLU	c.1722G>A (p.Leu574=) c.1060G>A (n.1060G>A) c.891G>A (p.Leu297=) c.723G>A (p.Leu241=) c.1779G>A (p.Leu593=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543728G>C	CA399604606	NAGLU	c.1722G>C (p.Leu574Phe) c.1060G>C (n.1060G>C) c.891G>C (p.Leu297Phe) c.723G>C (p.Leu241Phe) c.1779G>C (p.Leu593Phe)
17	g.42543728G=	CA2260530433	NAGLU	c.1722G= (p.Leu574=) c.1060G= (n.1060G=) c.891G= (p.Leu297=) c.723G= (p.Leu241=) c.1779G= (p.Leu593=)
17	g.42543728G>T	CA399604608	NAGLU	c.1722G>T (p.Leu574Phe) c.1060G>T (n.1060G>T) c.891G>T (p.Leu297Phe) c.723G>T (p.Leu241Phe) c.1779G>T (p.Leu593Phe)
17	g.42543729T>A	CA399604610	NAGLU	c.1723T>A (p.Tyr575Asn) c.1061T>A (n.1061T>A) c.892T>A (p.Tyr298Asn) c.724T>A (p.Tyr242Asn) c.1780T>A (p.Tyr594Asn)
17	g.42543729T>C	CA399604612	NAGLU	c.1723T>C (p.Tyr575His) c.1061T>C (n.1061T>C) c.892T>C (p.Tyr298His) c.724T>C (p.Tyr242His) c.1780T>C (p.Tyr594His)	gnomAD v4
17	g.42543729T>G	CA399604614	NAGLU	c.1723T>G (p.Tyr575Asp) c.1061T>G (n.1061T>G) c.892T>G (p.Tyr298Asp) c.724T>G (p.Tyr242Asp) c.1780T>G (p.Tyr594Asp)
17	g.42543730A=	CA2260530434	NAGLU	c.1724A= (p.Tyr575=) c.1062A= (n.1062A=) c.893A= (p.Tyr298=) c.725A= (p.Tyr242=) c.1781A= (p.Tyr594=)
17	g.42543730A>C	CA399604616	NAGLU	c.1724A>C (p.Tyr575Ser) c.1062A>C (n.1062A>C) c.893A>C (p.Tyr298Ser) c.725A>C (p.Tyr242Ser) c.1781A>C (p.Tyr594Ser)	dbSNP
17	g.42543730A>G	CA8577083	NAGLU	c.1724A>G (p.Tyr575Cys) c.1062A>G (n.1062A>G) c.893A>G (p.Tyr298Cys) c.725A>G (p.Tyr242Cys) c.1781A>G (p.Tyr594Cys)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.42543730A>T	CA399604618	NAGLU	c.1724A>T (p.Tyr575Phe) c.1062A>T (n.1062A>T) c.893A>T (p.Tyr298Phe) c.725A>T (p.Tyr242Phe) c.1781A>T (p.Tyr594Phe)
17	g.42543731C>A	CA399604621	NAGLU	c.1725C>A (p.Tyr575Ter) c.1063C>A (n.1063C>A) c.894C>A (p.Tyr298Ter) c.726C>A (p.Tyr242Ter) c.1782C>A (p.Tyr594Ter)
17	g.42543731C>G	CA399604623	NAGLU	c.1725C>G (p.Tyr575Ter) c.1063C>G (n.1063C>G) c.894C>G (p.Tyr298Ter) c.726C>G (p.Tyr242Ter) c.1782C>G (p.Tyr594Ter)
17	g.42543731C>T	CA500217250	NAGLU	c.1725C>T (p.Tyr575=) c.1063C>T (n.1063C>T) c.894C>T (p.Tyr298=) c.726C>T (p.Tyr242=) c.1782C>T (p.Tyr594=)	ClinVar
17	g.42543732T>A	CA399604625	NAGLU	c.1726T>A (p.Tyr576Asn) c.1064T>A (n.1064T>A) c.895T>A (p.Tyr299Asn) c.727T>A (p.Tyr243Asn) c.1783T>A (p.Tyr595Asn)
17	g.42543732T>C	CA399604627	NAGLU	c.1726T>C (p.Tyr576His) c.1064T>C (n.1064T>C) c.895T>C (p.Tyr299His) c.727T>C (p.Tyr243His) c.1783T>C (p.Tyr595His)
17	g.42543732T>G	CA399604629	NAGLU	c.1726T>G (p.Tyr576Asp) c.1064T>G (n.1064T>G) c.895T>G (p.Tyr299Asp) c.727T>G (p.Tyr243Asp) c.1783T>G (p.Tyr595Asp)
17	g.42543733A>C	CA399604631	NAGLU	c.1727A>C (p.Tyr576Ser) c.1065A>C (n.1065A>C) c.896A>C (p.Tyr299Ser) c.728A>C (p.Tyr243Ser) c.1784A>C (p.Tyr595Ser)
17	g.42543733A>G	CA399604633	NAGLU	c.1727A>G (p.Tyr576Cys) c.1065A>G (n.1065A>G) c.896A>G (p.Tyr299Cys) c.728A>G (p.Tyr243Cys) c.1784A>G (p.Tyr595Cys)	gnomAD v4
17	g.42543733A>T	CA399604632	NAGLU	c.1727A>T (p.Tyr576Phe) c.1065A>T (n.1065A>T) c.896A>T (p.Tyr299Phe) c.728A>T (p.Tyr243Phe) c.1784A>T (p.Tyr595Phe)
17	g.42543734T>A	CA399604636	NAGLU	c.1728T>A (p.Tyr576Ter) c.1066T>A (n.1066T>A) c.897T>A (p.Tyr299Ter) c.729T>A (p.Tyr243Ter) c.1785T>A (p.Tyr595Ter)
17	g.42543734T>C	CA290780981	NAGLU	c.1728T>C (p.Tyr576=) c.1066T>C (n.1066T>C) c.897T>C (p.Tyr299=) c.729T>C (p.Tyr243=) c.1785T>C (p.Tyr595=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.42543734T>G	CA399604638	NAGLU	c.1728T>G (p.Tyr576Ter) c.1066T>G (n.1066T>G) c.897T>G (p.Tyr299Ter) c.729T>G (p.Tyr243Ter) c.1785T>G (p.Tyr595Ter)
17	g.42543734T=	CA2260530435	NAGLU	c.1728T= (p.Tyr576=) c.1066T= (n.1066T=) c.897T= (p.Tyr299=) c.729T= (p.Tyr243=) c.1785T= (p.Tyr595=)
17	g.42543735G>A	CA399604640	NAGLU	c.1729G>A (p.Glu577Lys) c.1067G>A (n.1067G>A) c.898G>A (p.Glu300Lys) c.730G>A (p.Glu244Lys) c.1786G>A (p.Glu596Lys)	gnomAD v4
17	g.42543735G>C	CA399604642	NAGLU	c.1729G>C (p.Glu577Gln) c.1067G>C (n.1067G>C) c.898G>C (p.Glu300Gln) c.730G>C (p.Glu244Gln) c.1786G>C (p.Glu596Gln)
17	g.42543735G>T	CA399604644	NAGLU	c.1729G>T (p.Glu577Ter) c.1067G>T (n.1067G>T) c.898G>T (p.Glu300Ter) c.730G>T (p.Glu244Ter) c.1786G>T (p.Glu596Ter)	gnomAD v4
17	g.42543736A>C	CA399604646	NAGLU	c.1730A>C (p.Glu577Ala) c.1068A>C (n.1068A>C) c.899A>C (p.Glu300Ala) c.731A>C (p.Glu244Ala) c.1787A>C (p.Glu596Ala)
17	g.42543736A>G	CA399604648	NAGLU	c.1730A>G (p.Glu577Gly) c.1068A>G (n.1068A>G) c.899A>G (p.Glu300Gly) c.731A>G (p.Glu244Gly) c.1787A>G (p.Glu596Gly)
17	g.42543736A>T	CA399604649	NAGLU	c.1730A>T (p.Glu577Val) c.1068A>T (n.1068A>T) c.899A>T (p.Glu300Val) c.731A>T (p.Glu244Val) c.1787A>T (p.Glu596Val)
17	g.42543737G>A	CA500217261	NAGLU	c.1731G>A (p.Glu577=) c.1069G>A (n.1069G>A) c.900G>A (p.Glu300=) c.732G>A (p.Glu244=) c.1788G>A (p.Glu596=)	dbSNP
17	g.42543737G>C	CA399604652	NAGLU	c.1731G>C (p.Glu577Asp) c.1069G>C (n.1069G>C) c.900G>C (p.Glu300Asp) c.732G>C (p.Glu244Asp) c.1788G>C (p.Glu596Asp)	gnomAD v4
17	g.42543737G=	CA2260530436	NAGLU	c.1731G= (p.Glu577=) c.1069G= (n.1069G=) c.900G= (p.Glu300=) c.732G= (p.Glu244=) c.1788G= (p.Glu596=)
17	g.42543737G>T	CA399604654	NAGLU	c.1731G>T (p.Glu577Asp) c.1069G>T (n.1069G>T) c.900G>T (p.Glu300Asp) c.732G>T (p.Glu244Asp) c.1788G>T (p.Glu596Asp)
17	g.42543738G>A	CA399604660	NAGLU	c.1732G>A (p.Glu578Lys) c.1070G>A (n.1070G>A) c.901G>A (p.Glu301Lys) c.733G>A (p.Glu245Lys) c.1789G>A (p.Glu597Lys)	gnomAD v4
17	g.42543738G>C	CA399604658	NAGLU	c.1732G>C (p.Glu578Gln) c.1070G>C (n.1070G>C) c.901G>C (p.Glu301Gln) c.733G>C (p.Glu245Gln) c.1789G>C (p.Glu597Gln)
17	g.42543738G>T	CA399604656	NAGLU	c.1732G>T (p.Glu578Ter) c.1070G>T (n.1070G>T) c.901G>T (p.Glu301Ter) c.733G>T (p.Glu245Ter) c.1789G>T (p.Glu597Ter)
17	g.42543739A>C	CA399604662	NAGLU	c.1733A>C (p.Glu578Ala) c.1071A>C (n.1071A>C) c.902A>C (p.Glu301Ala) c.734A>C (p.Glu245Ala) c.1790A>C (p.Glu597Ala)
17	g.42543739A>G	CA399604664	NAGLU	c.1733A>G (p.Glu578Gly) c.1071A>G (n.1071A>G) c.902A>G (p.Glu301Gly) c.734A>G (p.Glu245Gly) c.1790A>G (p.Glu597Gly)
17	g.42543739A>T	CA399604665	NAGLU	c.1733A>T (p.Glu578Val) c.1071A>T (n.1071A>T) c.902A>T (p.Glu301Val) c.734A>T (p.Glu245Val) c.1790A>T (p.Glu597Val)
17	g.42543740G>A	CA500217265	NAGLU	c.1734G>A (p.Glu578=) c.1072G>A (n.1072G>A) c.903G>A (p.Glu301=) c.735G>A (p.Glu245=) c.1791G>A (p.Glu597=)
17	g.42543740G>C	CA399604668	NAGLU	c.1734G>C (p.Glu578Asp) c.1072G>C (n.1072G>C) c.903G>C (p.Glu301Asp) c.735G>C (p.Glu245Asp) c.1791G>C (p.Glu597Asp)	gnomAD v4
17	g.42543740G>T	CA399604669	NAGLU	c.1734G>T (p.Glu578Asp) c.1072G>T (n.1072G>T) c.903G>T (p.Glu301Asp) c.735G>T (p.Glu245Asp) c.1791G>T (p.Glu597Asp)
17	g.42543741G>A	CA399604672	NAGLU	c.1735G>A (p.Ala579Thr) c.1073G>A (n.1073G>A) c.904G>A (p.Ala302Thr) c.736G>A (p.Ala246Thr) c.1792G>A (p.Ala598Thr)	ClinVar gnomAD v4
17	g.42543741G>C	CA399604674	NAGLU	c.1735G>C (p.Ala579Pro) c.1073G>C (n.1073G>C) c.904G>C (p.Ala302Pro) c.736G>C (p.Ala246Pro) c.1792G>C (p.Ala598Pro)
17	g.42543741G>T	CA399604675	NAGLU	c.1735G>T (p.Ala579Ser) c.1073G>T (n.1073G>T) c.904G>T (p.Ala302Ser) c.736G>T (p.Ala246Ser) c.1792G>T (p.Ala598Ser)	gnomAD v4
17	g.42543742C>A	CA399604676	NAGLU	c.1736C>A (p.Ala579Glu) c.1074C>A (n.1074C>A) c.905C>A (p.Ala302Glu) c.737C>A (p.Ala246Glu) c.1793C>A (p.Ala598Glu)
17	g.42543742C=	CA2260530437	NAGLU	c.1736C= (p.Ala579=) c.1074C= (n.1074C=) c.905C= (p.Ala302=) c.737C= (p.Ala246=) c.1793C= (p.Ala598=)
17	g.42543742C>G	CA399604678	NAGLU	c.1736C>G (p.Ala579Gly) c.1074C>G (n.1074C>G) c.905C>G (p.Ala302Gly) c.737C>G (p.Ala246Gly) c.1793C>G (p.Ala598Gly)
17	g.42543742C>T	CA290780988	NAGLU	c.1736C>T (p.Ala579Val) c.1074C>T (n.1074C>T) c.905C>T (p.Ala302Val) c.737C>T (p.Ala246Val) c.1793C>T (p.Ala598Val)	dbSNP gnomAD v3 gnomAD v4
17	g.42543743A>C	CA500217275	NAGLU	c.1737A>C (p.Ala579=) c.1075A>C (n.1075A>C) c.906A>C (p.Ala302=) c.738A>C (p.Ala246=) c.1794A>C (p.Ala598=)
17	g.42543743A>G	CA500217274	NAGLU	c.1737A>G (p.Ala579=) c.1075A>G (n.1075A>G) c.906A>G (p.Ala302=) c.738A>G (p.Ala246=) c.1794A>G (p.Ala598=)
17	g.42543743A>T	CA500217273	NAGLU	c.1737A>T (p.Ala579=) c.1075A>T (n.1075A>T) c.906A>T (p.Ala302=) c.738A>T (p.Ala246=) c.1794A>T (p.Ala598=)
17	g.42543746_42543748del	CA2580613139	NAGLU	c.1740_1742del (p.Arg580del) c.1078_1080del (n.1078_1080del) c.909_911del (p.Arg303del) c.741_743del (p.Arg247del) c.1797_1799del (p.Arg599del)	ClinVar
17	g.42543744A=	CA2260530438	NAGLU	c.1738A= (p.Arg580=) c.1076A= (n.1076A=) c.907A= (p.Arg303=) c.739A= (p.Arg247=) c.1795A= (p.Arg599=)
17	g.42543744A>C	CA500217276	NAGLU	c.1738A>C (p.Arg580=) c.1076A>C (n.1076A>C) c.907A>C (p.Arg303=) c.739A>C (p.Arg247=) c.1795A>C (p.Arg599=)
17	g.42543744A>G	CA399604681	NAGLU	c.1738A>G (p.Arg580Gly) c.1076A>G (n.1076A>G) c.907A>G (p.Arg303Gly) c.739A>G (p.Arg247Gly) c.1795A>G (p.Arg599Gly)	dbSNP
17	g.42543744A>T	CA399604683	NAGLU	c.1738A>T (p.Arg580Ter) c.1076A>T (n.1076A>T) c.907A>T (p.Arg303Ter) c.739A>T (p.Arg247Ter) c.1795A>T (p.Arg599Ter)
17	g.42543744_42543750dup	CA2573054424	NAGLU	c.1738_1744dup (p.Ala582GlufsTer22) c.1076_1082dup (n.1076_1082dup) c.907_913dup (p.Ala305GlufsTer22) c.739_745dup (p.Ala249GlufsTer22) c.1795_1801dup (p.Ala601GlufsTer22)	ClinVar dbSNP
17	g.42543745G>A	CA399604689	NAGLU	c.1739G>A (p.Arg580Lys) c.1077G>A (n.1077G>A) c.908G>A (p.Arg303Lys) c.740G>A (p.Arg247Lys) c.1796G>A (p.Arg599Lys)	dbSNP gnomAD v4
17	g.42543745G>C	CA399604686	NAGLU	c.1739G>C (p.Arg580Thr) c.1077G>C (n.1077G>C) c.908G>C (p.Arg303Thr) c.740G>C (p.Arg247Thr) c.1796G>C (p.Arg599Thr)
17	g.42543745G=	CA2260530439	NAGLU	c.1739G= (p.Arg580=) c.1077G= (n.1077G=) c.908G= (p.Arg303=) c.740G= (p.Arg247=) c.1796G= (p.Arg599=)
17	g.42543745G>T	CA399604687	NAGLU	c.1739G>T (p.Arg580Ile) c.1077G>T (n.1077G>T) c.908G>T (p.Arg303Ile) c.740G>T (p.Arg247Ile) c.1796G>T (p.Arg599Ile)
17	g.42543746A>C	CA399604691	NAGLU	c.1740A>C (p.Arg580Ser) c.1078A>C (n.1078A>C) c.909A>C (p.Arg303Ser) c.741A>C (p.Arg247Ser) c.1797A>C (p.Arg599Ser)
17	g.42543746A>G	CA500217283	NAGLU	c.1740A>G (p.Arg580=) c.1078A>G (n.1078A>G) c.909A>G (p.Arg303=) c.741A>G (p.Arg247=) c.1797A>G (p.Arg599=)
17	g.42543746A>T	CA399604693	NAGLU	c.1740A>T (p.Arg580Ser) c.1078A>T (n.1078A>T) c.909A>T (p.Arg303Ser) c.741A>T (p.Arg247Ser) c.1797A>T (p.Arg599Ser)
17	g.42543747A>C	CA399604696	NAGLU	c.1741A>C (p.Ser581Arg) c.1079A>C (n.1079A>C) c.910A>C (p.Ser304Arg) c.742A>C (p.Ser248Arg) c.1798A>C (p.Ser600Arg)
17	g.42543747A>G	CA399604698	NAGLU	c.1741A>G (p.Ser581Gly) c.1079A>G (n.1079A>G) c.910A>G (p.Ser304Gly) c.742A>G (p.Ser248Gly) c.1798A>G (p.Ser600Gly)
17	g.42543747A>T	CA399604699	NAGLU	c.1741A>T (p.Ser581Cys) c.1079A>T (n.1079A>T) c.910A>T (p.Ser304Cys) c.742A>T (p.Ser248Cys) c.1798A>T (p.Ser600Cys)
17	g.42543748G>A	CA399604700	NAGLU	c.1742G>A (p.Ser581Asn) c.1080G>A (n.1080G>A) c.911G>A (p.Ser304Asn) c.743G>A (p.Ser248Asn) c.1799G>A (p.Ser600Asn)	gnomAD v4
17	g.42543748G>C	CA399604701	NAGLU	c.1742G>C (p.Ser581Thr) c.1080G>C (n.1080G>C) c.911G>C (p.Ser304Thr) c.743G>C (p.Ser248Thr) c.1799G>C (p.Ser600Thr)
17	g.42543748G>T	CA399604702	NAGLU	c.1742G>T (p.Ser581Ile) c.1080G>T (n.1080G>T) c.911G>T (p.Ser304Ile) c.743G>T (p.Ser248Ile) c.1799G>T (p.Ser600Ile)	gnomAD v4
17	g.42543749C>A	CA399604704	NAGLU	c.1743C>A (p.Ser581Arg) c.1081C>A (n.1081C>A) c.912C>A (p.Ser304Arg) c.744C>A (p.Ser248Arg) c.1800C>A (p.Ser600Arg)	gnomAD v4
17	g.42543749C=	CA2260530440	NAGLU	c.1743C= (p.Ser581=) c.1081C= (n.1081C=) c.912C= (p.Ser304=) c.744C= (p.Ser248=) c.1800C= (p.Ser600=)
17	g.42543749C>G	CA399604706	NAGLU	c.1743C>G (p.Ser581Arg) c.1081C>G (n.1081C>G) c.912C>G (p.Ser304Arg) c.744C>G (p.Ser248Arg) c.1800C>G (p.Ser600Arg)
17	g.42543749C>T	CA500217287	NAGLU	c.1743C>T (p.Ser581=) c.1081C>T (n.1081C>T) c.912C>T (p.Ser304=) c.744C>T (p.Ser248=) c.1800C>T (p.Ser600=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543750G>A	CA8577084	NAGLU	c.1744G>A (p.Ala582Thr) c.1082G>A (n.1082G>A) c.913G>A (p.Ala305Thr) c.745G>A (p.Ala249Thr) c.1801G>A (p.Ala601Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543750G>C	CA8577085	NAGLU	c.1744G>C (p.Ala582Pro) c.1082G>C (n.1082G>C) c.913G>C (p.Ala305Pro) c.745G>C (p.Ala249Pro) c.1801G>C (p.Ala601Pro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.42543750G=	CA2260530441	NAGLU	c.1744G= (p.Ala582=) c.1082G= (n.1082G=) c.913G= (p.Ala305=) c.745G= (p.Ala249=) c.1801G= (p.Ala601=)
17	g.42543750G>T	CA399604710	NAGLU	c.1744G>T (p.Ala582Ser) c.1082G>T (n.1082G>T) c.913G>T (p.Ala305Ser) c.745G>T (p.Ala249Ser) c.1801G>T (p.Ala601Ser)	ClinVar gnomAD v4
17	g.42543751C>A	CA399604715	NAGLU	c.1745C>A (p.Ala582Asp) c.1083C>A (n.1083C>A) c.914C>A (p.Ala305Asp) c.746C>A (p.Ala249Asp) c.1802C>A (p.Ala601Asp)
17	g.42543751C>G	CA399604716	NAGLU	c.1745C>G (p.Ala582Gly) c.1083C>G (n.1083C>G) c.914C>G (p.Ala305Gly) c.746C>G (p.Ala249Gly) c.1802C>G (p.Ala601Gly)
17	g.42543751C>T	CA399604712	NAGLU	c.1745C>T (p.Ala582Val) c.1083C>T (n.1083C>T) c.914C>T (p.Ala305Val) c.746C>T (p.Ala249Val) c.1802C>T (p.Ala601Val)
17	g.42543752C>A	CA500217293	NAGLU	c.1746C>A (p.Ala582=) c.1084C>A (n.1084C>A) c.915C>A (p.Ala305=) c.747C>A (p.Ala249=) c.1803C>A (p.Ala601=)
17	g.42543752C=	CA2260530442	NAGLU	c.1746C= (p.Ala582=) c.1084C= (n.1084C=) c.915C= (p.Ala305=) c.747C= (p.Ala249=) c.1803C= (p.Ala601=)
17	g.42543752C>G	CA500217296	NAGLU	c.1746C>G (p.Ala582=) c.1084C>G (n.1084C>G) c.915C>G (p.Ala305=) c.747C>G (p.Ala249=) c.1803C>G (p.Ala601=)
17	g.42543752C>T	CA500217295	NAGLU	c.1746C>T (p.Ala582=) c.1084C>T (n.1084C>T) c.915C>T (p.Ala305=) c.747C>T (p.Ala249=) c.1803C>T (p.Ala601=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543753T>A	CA399604720	NAGLU	c.1747T>A (p.Tyr583Asn) c.1085T>A (n.1085T>A) c.916T>A (p.Tyr306Asn) c.748T>A (p.Tyr250Asn) c.1804T>A (p.Tyr602Asn)
17	g.42543753T>C	CA399604718	NAGLU	c.1747T>C (p.Tyr583His) c.1085T>C (n.1085T>C) c.916T>C (p.Tyr306His) c.748T>C (p.Tyr250His) c.1804T>C (p.Tyr602His)	gnomAD v4
17	g.42543753T>G	CA399604722	NAGLU	c.1747T>G (p.Tyr583Asp) c.1085T>G (n.1085T>G) c.916T>G (p.Tyr306Asp) c.748T>G (p.Tyr250Asp) c.1804T>G (p.Tyr602Asp)
17	g.42543754A>C	CA399604724	NAGLU	c.1748A>C (p.Tyr583Ser) c.1086A>C (n.1086A>C) c.917A>C (p.Tyr306Ser) c.749A>C (p.Tyr250Ser) c.1805A>C (p.Tyr602Ser)
17	g.42543754A>G	CA399604726	NAGLU	c.1748A>G (p.Tyr583Cys) c.1086A>G (n.1086A>G) c.917A>G (p.Tyr306Cys) c.749A>G (p.Tyr250Cys) c.1805A>G (p.Tyr602Cys)
17	g.42543754A>T	CA399604728	NAGLU	c.1748A>T (p.Tyr583Phe) c.1086A>T (n.1086A>T) c.917A>T (p.Tyr306Phe) c.749A>T (p.Tyr250Phe) c.1805A>T (p.Tyr602Phe)
17	g.42543754_42543755delinsAC	CA2260530443	NAGLU	c.1748_1749delinsAC (p.Tyr583=) c.1086_1087delinsAC (n.1086_1087delinsAC) c.917_918delinsAC (p.Tyr306=) c.749_750delinsAC (p.Tyr250=) c.1805_1806delinsAC (p.Tyr602=)
17	g.42543755C>A	CA399604730	NAGLU	c.1749C>A (p.Tyr583Ter) c.1087C>A (n.1087C>A) c.918C>A (p.Tyr306Ter) c.750C>A (p.Tyr250Ter) c.1806C>A (p.Tyr602Ter)
17	g.42543755C=	CA2260530445	NAGLU	c.1749C= (p.Tyr583=) c.1087C= (n.1087C=) c.918C= (p.Tyr306=) c.750C= (p.Tyr250=) c.1806C= (p.Tyr602=)
17	g.42543755C>G	CA399604732	NAGLU	c.1749C>G (p.Tyr583Ter) c.1087C>G (n.1087C>G) c.918C>G (p.Tyr306Ter) c.750C>G (p.Tyr250Ter) c.1806C>G (p.Tyr602Ter)
17	g.42543755C>T	CA500217301	NAGLU	c.1749C>T (p.Tyr583=) c.1087C>T (n.1087C>T) c.918C>T (p.Tyr306=) c.750C>T (p.Tyr250=) c.1806C>T (p.Tyr602=)	dbSNP gnomAD v2 gnomAD v4
17	g.42543756del	CA2260530444	NAGLU	c.1750del (p.Leu584Ter) c.1088del (n.1088del) c.919del (p.Leu307Ter) c.751del (p.Leu251Ter) c.1807del (p.Leu603Ter)	dbSNP
17	g.42543756C>A	CA399604737	NAGLU	c.1750C>A (p.Leu584Met) c.1088C>A (n.1088C>A) c.919C>A (p.Leu307Met) c.751C>A (p.Leu251Met) c.1807C>A (p.Leu603Met)
17	g.42543756C=	CA2260530446	NAGLU	c.1750C= (p.Leu584=) c.1088C= (n.1088C=) c.919C= (p.Leu307=) c.751C= (p.Leu251=) c.1807C= (p.Leu603=)
17	g.42543756C>G	CA399604735	NAGLU	c.1750C>G (p.Leu584Val) c.1088C>G (n.1088C>G) c.919C>G (p.Leu307Val) c.751C>G (p.Leu251Val) c.1807C>G (p.Leu603Val)
17	g.42543756C>T	CA8577086	NAGLU	c.1750C>T (p.Leu584=) c.1088C>T (n.1088C>T) c.919C>T (p.Leu307=) c.751C>T (p.Leu251=) c.1807C>T (p.Leu603=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543757T>A	CA399604739	NAGLU	c.1751T>A (p.Leu584Gln) c.1089T>A (n.1089T>A) c.920T>A (p.Leu307Gln) c.752T>A (p.Leu251Gln) c.1808T>A (p.Leu603Gln)
17	g.42543757T>C	CA399604741	NAGLU	c.1751T>C (p.Leu584Pro) c.1089T>C (n.1089T>C) c.920T>C (p.Leu307Pro) c.752T>C (p.Leu251Pro) c.1808T>C (p.Leu603Pro)
17	g.42543757T>G	CA399604743	NAGLU	c.1751T>G (p.Leu584Arg) c.1089T>G (n.1089T>G) c.920T>G (p.Leu307Arg) c.752T>G (p.Leu251Arg) c.1808T>G (p.Leu603Arg)
17	g.42543758G>A	CA500217308	NAGLU	c.1752G>A (p.Leu584=) c.1090G>A (n.1090G>A) c.921G>A (p.Leu307=) c.753G>A (p.Leu251=) c.1809G>A (p.Leu603=)
17	g.42543758G>C	CA500217307	NAGLU	c.1752G>C (p.Leu584=) c.1090G>C (n.1090G>C) c.921G>C (p.Leu307=) c.753G>C (p.Leu251=) c.1809G>C (p.Leu603=)
17	g.42543758G>T	CA500217306	NAGLU	c.1752G>T (p.Leu584=) c.1090G>T (n.1090G>T) c.921G>T (p.Leu307=) c.753G>T (p.Leu251=) c.1809G>T (p.Leu603=)
17	g.42543759A>C	CA399604745	NAGLU	c.1753A>C (p.Ser585Arg) c.1091A>C (n.1091A>C) c.922A>C (p.Ser308Arg) c.754A>C (p.Ser252Arg) c.1810A>C (p.Ser604Arg)
17	g.42543759A>G	CA399604747	NAGLU	c.1753A>G (p.Ser585Gly) c.1091A>G (n.1091A>G) c.922A>G (p.Ser308Gly) c.754A>G (p.Ser252Gly) c.1810A>G (p.Ser604Gly)
17	g.42543759A>T	CA399604749	NAGLU	c.1753A>T (p.Ser585Cys) c.1091A>T (n.1091A>T) c.922A>T (p.Ser308Cys) c.754A>T (p.Ser252Cys) c.1810A>T (p.Ser604Cys)
17	g.42543760G>A	CA399604750	NAGLU	c.1754G>A (p.Ser585Asn) c.1092G>A (n.1092G>A) c.923G>A (p.Ser308Asn) c.755G>A (p.Ser252Asn) c.1811G>A (p.Ser604Asn)	gnomAD v4
17	g.42543760G>C	CA399604752	NAGLU	c.1754G>C (p.Ser585Thr) c.1092G>C (n.1092G>C) c.923G>C (p.Ser308Thr) c.755G>C (p.Ser252Thr) c.1811G>C (p.Ser604Thr)
17	g.42543760G>T	CA399604751	NAGLU	c.1754G>T (p.Ser585Ile) c.1092G>T (n.1092G>T) c.923G>T (p.Ser308Ile) c.755G>T (p.Ser252Ile) c.1811G>T (p.Ser604Ile)	gnomAD v4
17	g.42543761C>A	CA399604754	NAGLU	c.1755C>A (p.Ser585Arg) c.1093C>A (n.1093C>A) c.924C>A (p.Ser308Arg) c.756C>A (p.Ser252Arg) c.1812C>A (p.Ser604Arg)	gnomAD v4
17	g.42543761C>G	CA399604756	NAGLU	c.1755C>G (p.Ser585Arg) c.1093C>G (n.1093C>G) c.924C>G (p.Ser308Arg) c.756C>G (p.Ser252Arg) c.1812C>G (p.Ser604Arg)
17	g.42543761C>T	CA500217312	NAGLU	c.1755C>T (p.Ser585=) c.1093C>T (n.1093C>T) c.924C>T (p.Ser308=) c.756C>T (p.Ser252=) c.1812C>T (p.Ser604=)
17	g.42543762A>C	CA399604758	NAGLU	c.1756A>C (p.Lys586Gln) c.1094A>C (n.1094A>C) c.925A>C (p.Lys309Gln) c.757A>C (p.Lys253Gln) c.1813A>C (p.Lys605Gln)
17	g.42543762A>G	CA399604759	NAGLU	c.1756A>G (p.Lys586Glu) c.1094A>G (n.1094A>G) c.925A>G (p.Lys309Glu) c.757A>G (p.Lys253Glu) c.1813A>G (p.Lys605Glu)
17	g.42543762A>T	CA399604761	NAGLU	c.1756A>T (p.Lys586Ter) c.1094A>T (n.1094A>T) c.925A>T (p.Lys309Ter) c.757A>T (p.Lys253Ter) c.1813A>T (p.Lys605Ter)
17	g.42543763A>C	CA399604763	NAGLU	c.1757A>C (p.Lys586Thr) c.1095A>C (n.1095A>C) c.926A>C (p.Lys309Thr) c.758A>C (p.Lys253Thr) c.1814A>C (p.Lys605Thr)
17	g.42543763A>G	CA399604765	NAGLU	c.1757A>G (p.Lys586Arg) c.1095A>G (n.1095A>G) c.926A>G (p.Lys309Arg) c.758A>G (p.Lys253Arg) c.1814A>G (p.Lys605Arg)
17	g.42543763A>T	CA399604767	NAGLU	c.1757A>T (p.Lys586Met) c.1095A>T (n.1095A>T) c.926A>T (p.Lys309Met) c.758A>T (p.Lys253Met) c.1814A>T (p.Lys605Met)
17	g.42543764G>A	CA500217319	NAGLU	c.1758G>A (p.Lys586=) c.1096G>A (n.1096G>A) c.927G>A (p.Lys309=) c.759G>A (p.Lys253=) c.1815G>A (p.Lys605=)	dbSNP
17	g.42543764G>C	CA399604769	NAGLU	c.1758G>C (p.Lys586Asn) c.1096G>C (n.1096G>C) c.927G>C (p.Lys309Asn) c.759G>C (p.Lys253Asn) c.1815G>C (p.Lys605Asn)
17	g.42543764G=	CA2260530447	NAGLU	c.1758G= (p.Lys586=) c.1096G= (n.1096G=) c.927G= (p.Lys309=) c.759G= (p.Lys253=) c.1815G= (p.Lys605=)
17	g.42543764G>T	CA399604771	NAGLU	c.1758G>T (p.Lys586Asn) c.1096G>T (n.1096G>T) c.927G>T (p.Lys309Asn) c.759G>T (p.Lys253Asn) c.1815G>T (p.Lys605Asn)
17	g.42543765G>A	CA399604777	NAGLU	c.1759G>A (p.Glu587Lys) c.1097G>A (n.1097G>A) c.928G>A (p.Glu310Lys) c.760G>A (p.Glu254Lys) c.1816G>A (p.Glu606Lys)	gnomAD v4
17	g.42543765G>C	CA399604775	NAGLU	c.1759G>C (p.Glu587Gln) c.1097G>C (n.1097G>C) c.928G>C (p.Glu310Gln) c.760G>C (p.Glu254Gln) c.1816G>C (p.Glu606Gln)
17	g.42543765G>T	CA399604774	NAGLU	c.1759G>T (p.Glu587Ter) c.1097G>T (n.1097G>T) c.928G>T (p.Glu310Ter) c.760G>T (p.Glu254Ter) c.1816G>T (p.Glu606Ter)	gnomAD v4
17	g.42543766A=	CA2260530448	NAGLU	c.1760A= (p.Glu587=) c.1098A= (n.1098A=) c.929A= (p.Glu310=) c.761A= (p.Glu254=) c.1817A= (p.Glu606=)
17	g.42543766A>C	CA399604780	NAGLU	c.1760A>C (p.Glu587Ala) c.1098A>C (n.1098A>C) c.929A>C (p.Glu310Ala) c.761A>C (p.Glu254Ala) c.1817A>C (p.Glu606Ala)
17	g.42543766A>G	CA399604781	NAGLU	c.1760A>G (p.Glu587Gly) c.1098A>G (n.1098A>G) c.929A>G (p.Glu310Gly) c.761A>G (p.Glu254Gly) c.1817A>G (p.Glu606Gly)	dbSNP gnomAD v2
17	g.42543766A>T	CA399604783	NAGLU	c.1760A>T (p.Glu587Val) c.1098A>T (n.1098A>T) c.929A>T (p.Glu310Val) c.761A>T (p.Glu254Val) c.1817A>T (p.Glu606Val)
17	g.42543767G>A	CA500217324	NAGLU	c.1761G>A (p.Glu587=) c.1099G>A (n.1099G>A) c.930G>A (p.Glu310=) c.762G>A (p.Glu254=) c.1818G>A (p.Glu606=)
17	g.42543767G>C	CA399604785	NAGLU	c.1761G>C (p.Glu587Asp) c.1099G>C (n.1099G>C) c.930G>C (p.Glu310Asp) c.762G>C (p.Glu254Asp) c.1818G>C (p.Glu606Asp)
17	g.42543767G>T	CA399604787	NAGLU	c.1761G>T (p.Glu587Asp) c.1099G>T (n.1099G>T) c.930G>T (p.Glu310Asp) c.762G>T (p.Glu254Asp) c.1818G>T (p.Glu606Asp)	gnomAD v4
17	g.42543768C>A	CA399604789	NAGLU	c.1762C>A (p.Leu588Met) c.1100C>A (n.1100C>A) c.931C>A (p.Leu311Met) c.763C>A (p.Leu255Met) c.1819C>A (p.Leu607Met)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543768C=	CA2260530449	NAGLU	c.1762C= (p.Leu588=) c.1100C= (n.1100C=) c.931C= (p.Leu311=) c.763C= (p.Leu255=) c.1819C= (p.Leu607=)
17	g.42543768C>G	CA399604790	NAGLU	c.1762C>G (p.Leu588Val) c.1100C>G (n.1100C>G) c.931C>G (p.Leu311Val) c.763C>G (p.Leu255Val) c.1819C>G (p.Leu607Val)	dbSNP gnomAD v4
17	g.42543768C>T	CA500217329	NAGLU	c.1762C>T (p.Leu588=) c.1100C>T (n.1100C>T) c.931C>T (p.Leu311=) c.763C>T (p.Leu255=) c.1819C>T (p.Leu607=)
17	g.42543769T>A	CA399604793	NAGLU	c.1763T>A (p.Leu588Gln) c.1101T>A (n.1101T>A) c.932T>A (p.Leu311Gln) c.764T>A (p.Leu255Gln) c.1820T>A (p.Leu607Gln)	gnomAD v4
17	g.42543769T>C	CA399604794	NAGLU	c.1763T>C (p.Leu588Pro) c.1101T>C (n.1101T>C) c.932T>C (p.Leu311Pro) c.764T>C (p.Leu255Pro) c.1820T>C (p.Leu607Pro)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543769T>G	CA399604795	NAGLU	c.1763T>G (p.Leu588Arg) c.1101T>G (n.1101T>G) c.932T>G (p.Leu311Arg) c.764T>G (p.Leu255Arg) c.1820T>G (p.Leu607Arg)
17	g.42543769T=	CA2260530450	NAGLU	c.1763T= (p.Leu588=) c.1101T= (n.1101T=) c.932T= (p.Leu311=) c.764T= (p.Leu255=) c.1820T= (p.Leu607=)
17	g.42543770G>A	CA500217336	NAGLU	c.1764G>A (p.Leu588=) c.1102G>A (n.1102G>A) c.933G>A (p.Leu311=) c.765G>A (p.Leu255=) c.1821G>A (p.Leu607=)	ClinVar gnomAD v4
17	g.42543770G>C	CA500217332	NAGLU	c.1764G>C (p.Leu588=) c.1102G>C (n.1102G>C) c.933G>C (p.Leu311=) c.765G>C (p.Leu255=) c.1821G>C (p.Leu607=)
17	g.42543770G>T	CA500217335	NAGLU	c.1764G>T (p.Leu588=) c.1102G>T (n.1102G>T) c.933G>T (p.Leu311=) c.765G>T (p.Leu255=) c.1821G>T (p.Leu607=)	gnomAD v4
17	g.42543771G>A	CA399604797	NAGLU	c.1765G>A (p.Ala589Thr) c.1103G>A (n.1103G>A) c.934G>A (p.Ala312Thr) c.766G>A (p.Ala256Thr) c.1822G>A (p.Ala608Thr)
17	g.42543771G>C	CA399604798	NAGLU	c.1765G>C (p.Ala589Pro) c.1103G>C (n.1103G>C) c.934G>C (p.Ala312Pro) c.766G>C (p.Ala256Pro) c.1822G>C (p.Ala608Pro)	gnomAD v4
17	g.42543771G>T	CA399604800	NAGLU	c.1765G>T (p.Ala589Ser) c.1103G>T (n.1103G>T) c.934G>T (p.Ala312Ser) c.766G>T (p.Ala256Ser) c.1822G>T (p.Ala608Ser)
17	g.42543772C>A	CA399604805	NAGLU	c.1766C>A (p.Ala589Asp) c.1104C>A (n.1104C>A) c.935C>A (p.Ala312Asp) c.767C>A (p.Ala256Asp) c.1823C>A (p.Ala608Asp)
17	g.42543772C=	CA2260530451	NAGLU	c.1766C= (p.Ala589=) c.1104C= (n.1104C=) c.935C= (p.Ala312=) c.767C= (p.Ala256=) c.1823C= (p.Ala608=)
17	g.42543772C>G	CA399604802	NAGLU	c.1766C>G (p.Ala589Gly) c.1104C>G (n.1104C>G) c.935C>G (p.Ala312Gly) c.767C>G (p.Ala256Gly) c.1823C>G (p.Ala608Gly)
17	g.42543772C>T	CA8577087	NAGLU	c.1766C>T (p.Ala589Val) c.1104C>T (n.1104C>T) c.935C>T (p.Ala312Val) c.767C>T (p.Ala256Val) c.1823C>T (p.Ala608Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.42543773C>A	CA500217340	NAGLU	c.1767C>A (p.Ala589=) c.1105C>A (n.1105C>A) c.936C>A (p.Ala312=) c.768C>A (p.Ala256=) c.1824C>A (p.Ala608=)	ClinVar
17	g.42543773C>G	CA500217339	NAGLU	c.1767C>G (p.Ala589=) c.1105C>G (n.1105C>G) c.936C>G (p.Ala312=) c.768C>G (p.Ala256=) c.1824C>G (p.Ala608=)
17	g.42543773C>T	CA500217341	NAGLU	c.1767C>T (p.Ala589=) c.1105C>T (n.1105C>T) c.936C>T (p.Ala312=) c.768C>T (p.Ala256=) c.1824C>T (p.Ala608=)	ClinVar dbSNP
17	g.42543774T>A	CA399604808	NAGLU	c.1768T>A (p.Ser590Thr) c.1106T>A (n.1106T>A) c.937T>A (p.Ser313Thr) c.769T>A (p.Ser257Thr) c.1825T>A (p.Ser609Thr)
17	g.42543774T>C	CA399604810	NAGLU	c.1768T>C (p.Ser590Pro) c.1106T>C (n.1106T>C) c.937T>C (p.Ser313Pro) c.769T>C (p.Ser257Pro) c.1825T>C (p.Ser609Pro)
17	g.42543774T>G	CA399604811	NAGLU	c.1768T>G (p.Ser590Ala) c.1106T>G (n.1106T>G) c.937T>G (p.Ser313Ala) c.769T>G (p.Ser257Ala) c.1825T>G (p.Ser609Ala)
17	g.42543775C>A	CA399604814	NAGLU	c.1769C>A (p.Ser590Tyr) c.1107C>A (n.1107C>A) c.938C>A (p.Ser313Tyr) c.770C>A (p.Ser257Tyr) c.1826C>A (p.Ser609Tyr)
17	g.42543775C>G	CA399604815	NAGLU	c.1769C>G (p.Ser590Cys) c.1107C>G (n.1107C>G) c.938C>G (p.Ser313Cys) c.770C>G (p.Ser257Cys) c.1826C>G (p.Ser609Cys)
17	g.42543775C>T	CA399604816	NAGLU	c.1769C>T (p.Ser590Phe) c.1107C>T (n.1107C>T) c.938C>T (p.Ser313Phe) c.770C>T (p.Ser257Phe) c.1826C>T (p.Ser609Phe)
17	g.42543776C>A	CA500217346	NAGLU	c.1770C>A (p.Ser590=) c.1108C>A (n.1108C>A) c.939C>A (p.Ser313=) c.771C>A (p.Ser257=) c.1827C>A (p.Ser609=)
17	g.42543776C>G	CA500217351	NAGLU	c.1770C>G (p.Ser590=) c.1108C>G (n.1108C>G) c.939C>G (p.Ser313=) c.771C>G (p.Ser257=) c.1827C>G (p.Ser609=)
17	g.42543776C>T	CA500217348	NAGLU	c.1770C>T (p.Ser590=) c.1108C>T (n.1108C>T) c.939C>T (p.Ser313=) c.771C>T (p.Ser257=) c.1827C>T (p.Ser609=)	ClinVar dbSNP
17	g.42543777C>A	CA399604817	NAGLU	c.1771C>A (p.Leu591Met) c.1109C>A (n.1109C>A) c.940C>A (p.Leu314Met) c.772C>A (p.Leu258Met) c.1828C>A (p.Leu610Met)
17	g.42543777C=	CA2260530452	NAGLU	c.1771C= (p.Leu591=) c.1109C= (n.1109C=) c.940C= (p.Leu314=) c.772C= (p.Leu258=) c.1828C= (p.Leu610=)
17	g.42543777C>G	CA399604818	NAGLU	c.1771C>G (p.Leu591Val) c.1109C>G (n.1109C>G) c.940C>G (p.Leu314Val) c.772C>G (p.Leu258Val) c.1828C>G (p.Leu610Val)
17	g.42543777C>T	CA8577088	NAGLU	c.1771C>T (p.Leu591=) c.1109C>T (n.1109C>T) c.940C>T (p.Leu314=) c.772C>T (p.Leu258=) c.1828C>T (p.Leu610=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543778T>A	CA399604822	NAGLU	c.1772T>A (p.Leu591Gln) c.1110T>A (n.1110T>A) c.941T>A (p.Leu314Gln) c.773T>A (p.Leu258Gln) c.1829T>A (p.Leu610Gln)	dbSNP gnomAD v4
17	g.42543778T>C	CA399604823	NAGLU	c.1772T>C (p.Leu591Pro) c.1110T>C (n.1110T>C) c.941T>C (p.Leu314Pro) c.773T>C (p.Leu258Pro) c.1829T>C (p.Leu610Pro)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543778T>G	CA399604825	NAGLU	c.1772T>G (p.Leu591Arg) c.1110T>G (n.1110T>G) c.941T>G (p.Leu314Arg) c.773T>G (p.Leu258Arg) c.1829T>G (p.Leu610Arg)
17	g.42543778T=	CA2260530453	NAGLU	c.1772T= (p.Leu591=) c.1110T= (n.1110T=) c.941T= (p.Leu314=) c.773T= (p.Leu258=) c.1829T= (p.Leu610=)
17	g.42543779del	CA2573153974	NAGLU	c.1773del (p.Leu592Ter) c.1111del (n.1111del) c.942del (p.Leu315Ter) c.774del (p.Leu259Ter) c.1830del (p.Leu611Ter)	ClinVar dbSNP
17	g.42543779G>A	CA500217356	NAGLU	c.1773G>A (p.Leu591=) c.1111G>A (n.1111G>A) c.942G>A (p.Leu314=) c.774G>A (p.Leu258=) c.1830G>A (p.Leu610=)	gnomAD v4
17	g.42543779G>C	CA500217355	NAGLU	c.1773G>C (p.Leu591=) c.1111G>C (n.1111G>C) c.942G>C (p.Leu314=) c.774G>C (p.Leu258=) c.1830G>C (p.Leu610=)
17	g.42543779G>T	CA500217357	NAGLU	c.1773G>T (p.Leu591=) c.1111G>T (n.1111G>T) c.942G>T (p.Leu314=) c.774G>T (p.Leu258=) c.1830G>T (p.Leu610=)
17	g.42543780T>A	CA399604829	NAGLU	c.1774T>A (p.Leu592Met) c.1112T>A (n.1112T>A) c.943T>A (p.Leu315Met) c.775T>A (p.Leu259Met) c.1831T>A (p.Leu611Met)
17	g.42543780T>C	CA500217359	NAGLU	c.1774T>C (p.Leu592=) c.1112T>C (n.1112T>C) c.943T>C (p.Leu315=) c.775T>C (p.Leu259=) c.1831T>C (p.Leu611=)
17	g.42543780T>G	CA399604827	NAGLU	c.1774T>G (p.Leu592Val) c.1112T>G (n.1112T>G) c.943T>G (p.Leu315Val) c.775T>G (p.Leu259Val) c.1831T>G (p.Leu611Val)
17	g.42543781T>A	CA399604831	NAGLU	c.1775T>A (p.Leu592Ter) c.1113T>A (n.1113T>A) c.944T>A (p.Leu315Ter) c.776T>A (p.Leu259Ter) c.1832T>A (p.Leu611Ter)
17	g.42543781T>C	CA399604835	NAGLU	c.1775T>C (p.Leu592Ser) c.1113T>C (n.1113T>C) c.944T>C (p.Leu315Ser) c.776T>C (p.Leu259Ser) c.1832T>C (p.Leu611Ser)
17	g.42543781T>G	CA399604833	NAGLU	c.1775T>G (p.Leu592Trp) c.1113T>G (n.1113T>G) c.944T>G (p.Leu315Trp) c.776T>G (p.Leu259Trp) c.1832T>G (p.Leu611Trp)
17	g.42543782G>A	CA500217363	NAGLU	c.1776G>A (p.Leu592=) c.1114G>A (n.1114G>A) c.945G>A (p.Leu315=) c.777G>A (p.Leu259=) c.1833G>A (p.Leu611=)
17	g.42543782G>C	CA399604837	NAGLU	c.1776G>C (p.Leu592Phe) c.1114G>C (n.1114G>C) c.945G>C (p.Leu315Phe) c.777G>C (p.Leu259Phe) c.1833G>C (p.Leu611Phe)
17	g.42543782G>T	CA399604838	NAGLU	c.1776G>T (p.Leu592Phe) c.1114G>T (n.1114G>T) c.945G>T (p.Leu315Phe) c.777G>T (p.Leu259Phe) c.1833G>T (p.Leu611Phe)	gnomAD v4
17	g.42543783A>C	CA500217365	NAGLU	c.1777A>C (p.Arg593=) c.1115A>C (n.1115A>C) c.946A>C (p.Arg316=) c.778A>C (p.Arg260=) c.1834A>C (p.Arg612=)
17	g.42543783A>G	CA399604840	NAGLU	c.1777A>G (p.Arg593Gly) c.1115A>G (n.1115A>G) c.946A>G (p.Arg316Gly) c.778A>G (p.Arg260Gly) c.1834A>G (p.Arg612Gly)
17	g.42543783A>T	CA399604842	NAGLU	c.1777A>T (p.Arg593Trp) c.1115A>T (n.1115A>T) c.946A>T (p.Arg316Trp) c.778A>T (p.Arg260Trp) c.1834A>T (p.Arg612Trp)
17	g.42543784G>A	CA399604844	NAGLU	c.1778G>A (p.Arg593Lys) c.1116G>A (n.1116G>A) c.947G>A (p.Arg316Lys) c.779G>A (p.Arg260Lys) c.1835G>A (p.Arg612Lys)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.42543784G>C	CA399604845	NAGLU	c.1778G>C (p.Arg593Thr) c.1116G>C (n.1116G>C) c.947G>C (p.Arg316Thr) c.779G>C (p.Arg260Thr) c.1835G>C (p.Arg612Thr)
17	g.42543784G=	CA2260530454	NAGLU	c.1778G= (p.Arg593=) c.1116G= (n.1116G=) c.947G= (p.Arg316=) c.779G= (p.Arg260=) c.1835G= (p.Arg612=)
17	g.42543784G>T	CA399604847	NAGLU	c.1778G>T (p.Arg593Met) c.1116G>T (n.1116G>T) c.947G>T (p.Arg316Met) c.779G>T (p.Arg260Met) c.1835G>T (p.Arg612Met)
17	g.42543785G>A	CA500217372	NAGLU	c.1779G>A (p.Arg593=) c.1117G>A (n.1117G>A) c.948G>A (p.Arg316=) c.780G>A (p.Arg260=) c.1836G>A (p.Arg612=)	ClinVar dbSNP
17	g.42543785G>C	CA399604849	NAGLU	c.1779G>C (p.Arg593Ser) c.1117G>C (n.1117G>C) c.948G>C (p.Arg316Ser) c.780G>C (p.Arg260Ser) c.1836G>C (p.Arg612Ser)
17	g.42543785G>T	CA399604851	NAGLU	c.1779G>T (p.Arg593Ser) c.1117G>T (n.1117G>T) c.948G>T (p.Arg316Ser) c.780G>T (p.Arg260Ser) c.1836G>T (p.Arg612Ser)
17	g.42543786G>A	CA399604853	NAGLU	c.1780G>A (p.Ala594Thr) c.1118G>A (n.1118G>A) c.949G>A (p.Ala317Thr) c.781G>A (p.Ala261Thr) c.1837G>A (p.Ala613Thr)	gnomAD v4
17	g.42543786G>C	CA399604855	NAGLU	c.1780G>C (p.Ala594Pro) c.1118G>C (n.1118G>C) c.949G>C (p.Ala317Pro) c.781G>C (p.Ala261Pro) c.1837G>C (p.Ala613Pro)
17	g.42543786G>T	CA399604856	NAGLU	c.1780G>T (p.Ala594Ser) c.1118G>T (n.1118G>T) c.949G>T (p.Ala317Ser) c.781G>T (p.Ala261Ser) c.1837G>T (p.Ala613Ser)	gnomAD v4
17	g.42543787C>A	CA399604861	NAGLU	c.1781C>A (p.Ala594Asp) c.1119C>A (n.1119C>A) c.950C>A (p.Ala317Asp) c.782C>A (p.Ala261Asp) c.1838C>A (p.Ala613Asp)
17	g.42543787C=	CA2260530455	NAGLU	c.1781C= (p.Ala594=) c.1119C= (n.1119C=) c.950C= (p.Ala317=) c.782C= (p.Ala261=) c.1838C= (p.Ala613=)
17	g.42543787C>G	CA399604860	NAGLU	c.1781C>G (p.Ala594Gly) c.1119C>G (n.1119C>G) c.950C>G (p.Ala317Gly) c.782C>G (p.Ala261Gly) c.1838C>G (p.Ala613Gly)
17	g.42543787C>T	CA10650160	NAGLU	c.1781C>T (p.Ala594Val) c.1119C>T (n.1119C>T) c.950C>T (p.Ala317Val) c.782C>T (p.Ala261Val) c.1838C>T (p.Ala613Val)	ClinVar dbSNP gnomAD v4
17	g.42543788T>A	CA8577089	NAGLU	c.1782T>A (p.Ala594=) c.1120T>A (n.1120T>A) c.951T>A (p.Ala317=) c.783T>A (p.Ala261=) c.1839T>A (p.Ala613=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543788T>C	CA500217378	NAGLU	c.1782T>C (p.Ala594=) c.1120T>C (n.1120T>C) c.951T>C (p.Ala317=) c.783T>C (p.Ala261=) c.1839T>C (p.Ala613=)
17	g.42543788T>G	CA500217377	NAGLU	c.1782T>G (p.Ala594=) c.1120T>G (n.1120T>G) c.951T>G (p.Ala317=) c.783T>G (p.Ala261=) c.1839T>G (p.Ala613=)
17	g.42543788T=	CA2260530456	NAGLU	c.1782T= (p.Ala594=) c.1120T= (n.1120T=) c.951T= (p.Ala317=) c.783T= (p.Ala261=) c.1839T= (p.Ala613=)
17	g.42543789G>A	CA8577090	NAGLU	c.1783G>A (p.Gly595Arg) c.1121G>A (n.1121G>A) c.952G>A (p.Gly318Arg) c.784G>A (p.Gly262Arg) c.1840G>A (p.Gly614Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.42543789G>C	CA399604865	NAGLU	c.1783G>C (p.Gly595Arg) c.1121G>C (n.1121G>C) c.952G>C (p.Gly318Arg) c.784G>C (p.Gly262Arg) c.1840G>C (p.Gly614Arg)
17	g.42543789G=	CA2260530457	NAGLU	c.1783G= (p.Gly595=) c.1121G= (n.1121G=) c.952G= (p.Gly318=) c.784G= (p.Gly262=) c.1840G= (p.Gly614=)
17	g.42543789G>T	CA399604867	NAGLU	c.1783G>T (p.Gly595Ter) c.1121G>T (n.1121G>T) c.952G>T (p.Gly318Ter) c.784G>T (p.Gly262Ter) c.1840G>T (p.Gly614Ter)
17	g.42543790G>A	CA399604869	NAGLU	c.1784G>A (p.Gly595Glu) c.1122G>A (n.1122G>A) c.953G>A (p.Gly318Glu) c.785G>A (p.Gly262Glu) c.1841G>A (p.Gly614Glu)
17	g.42543790G>C	CA399604871	NAGLU	c.1784G>C (p.Gly595Ala) c.1122G>C (n.1122G>C) c.953G>C (p.Gly318Ala) c.785G>C (p.Gly262Ala) c.1841G>C (p.Gly614Ala)
17	g.42543790G=	CA2260530458	NAGLU	c.1784G= (p.Gly595=) c.1122G= (n.1122G=) c.953G= (p.Gly318=) c.785G= (p.Gly262=) c.1841G= (p.Gly614=)
17	g.42543790G>T	CA399604873	NAGLU	c.1784G>T (p.Gly595Val) c.1122G>T (n.1122G>T) c.953G>T (p.Gly318Val) c.785G>T (p.Gly262Val) c.1841G>T (p.Gly614Val)	dbSNP gnomAD v2 gnomAD v4
17	g.42543791A=	CA2260530459	NAGLU	c.1785A= (p.Gly595=) c.1123A= (n.1123A=) c.954A= (p.Gly318=) c.786A= (p.Gly262=) c.1842A= (p.Gly614=)
17	g.42543791A>C	CA500217387	NAGLU	c.1785A>C (p.Gly595=) c.1123A>C (n.1123A>C) c.954A>C (p.Gly318=) c.786A>C (p.Gly262=) c.1842A>C (p.Gly614=)	dbSNP gnomAD v2 gnomAD v4
17	g.42543791A>G	CA500217386	NAGLU	c.1785A>G (p.Gly595=) c.1123A>G (n.1123A>G) c.954A>G (p.Gly318=) c.786A>G (p.Gly262=) c.1842A>G (p.Gly614=)	gnomAD v4
17	g.42543791A>T	CA500217385	NAGLU	c.1785A>T (p.Gly595=) c.1123A>T (n.1123A>T) c.954A>T (p.Gly318=) c.786A>T (p.Gly262=) c.1842A>T (p.Gly614=)
17	g.42543792G>A	CA399604875	NAGLU	c.1786G>A (p.Gly596Ser) c.1124G>A (n.1124G>A) c.955G>A (p.Gly319Ser) c.787G>A (p.Gly263Ser) c.1843G>A (p.Gly615Ser)
17	g.42543792G>C	CA399604877	NAGLU	c.1786G>C (p.Gly596Arg) c.1124G>C (n.1124G>C) c.955G>C (p.Gly319Arg) c.787G>C (p.Gly263Arg) c.1843G>C (p.Gly615Arg)
17	g.42543792G=	CA2260530460	NAGLU	c.1786G= (p.Gly596=) c.1124G= (n.1124G=) c.955G= (p.Gly319=) c.787G= (p.Gly263=) c.1843G= (p.Gly615=)
17	g.42543792G>T	CA8577091	NAGLU	c.1786G>T (p.Gly596Cys) c.1124G>T (n.1124G>T) c.955G>T (p.Gly319Cys) c.787G>T (p.Gly263Cys) c.1843G>T (p.Gly615Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543793G>A	CA399604880	NAGLU	c.1787G>A (p.Gly596Asp) c.1125G>A (n.1125G>A) c.956G>A (p.Gly319Asp) c.788G>A (p.Gly263Asp) c.1844G>A (p.Gly615Asp)	dbSNP gnomAD v2 COSMIC
17	g.42543793G>C	CA399604881	NAGLU	c.1787G>C (p.Gly596Ala) c.1125G>C (n.1125G>C) c.956G>C (p.Gly319Ala) c.788G>C (p.Gly263Ala) c.1844G>C (p.Gly615Ala)
17	g.42543793G=	CA2260530461	NAGLU	c.1787G= (p.Gly596=) c.1125G= (n.1125G=) c.956G= (p.Gly319=) c.788G= (p.Gly263=) c.1844G= (p.Gly615=)
17	g.42543793G>T	CA399604883	NAGLU	c.1787G>T (p.Gly596Val) c.1125G>T (n.1125G>T) c.956G>T (p.Gly319Val) c.788G>T (p.Gly263Val) c.1844G>T (p.Gly615Val)
17	g.42543794C>A	CA500217395	NAGLU	c.1788C>A (p.Gly596=) c.1126C>A (n.1126C>A) c.957C>A (p.Gly319=) c.789C>A (p.Gly263=) c.1845C>A (p.Gly615=)	gnomAD v4
17	g.42543794C=	CA2260530462	NAGLU	c.1788C= (p.Gly596=) c.1126C= (n.1126C=) c.957C= (p.Gly319=) c.789C= (p.Gly263=) c.1845C= (p.Gly615=)
17	g.42543794C>G	CA8577093	NAGLU	c.1788C>G (p.Gly596=) c.1126C>G (n.1126C>G) c.957C>G (p.Gly319=) c.789C>G (p.Gly263=) c.1845C>G (p.Gly615=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.42543794C>T	CA8577092	NAGLU	c.1788C>T (p.Gly596=) c.1126C>T (n.1126C>T) c.957C>T (p.Gly319=) c.789C>T (p.Gly263=) c.1845C>T (p.Gly615=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543795G>A	CA8577094	NAGLU	c.1789G>A (p.Val597Ile) c.1127G>A (n.1127G>A) c.958G>A (p.Val320Ile) c.790G>A (p.Val264Ile) c.1846G>A (p.Val616Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543795G>C	CA8577095	NAGLU	c.1789G>C (p.Val597Leu) c.1127G>C (n.1127G>C) c.958G>C (p.Val320Leu) c.790G>C (p.Val264Leu) c.1846G>C (p.Val616Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543795G=	CA2260530463	NAGLU	c.1789G= (p.Val597=) c.1127G= (n.1127G=) c.958G= (p.Val320=) c.790G= (p.Val264=) c.1846G= (p.Val616=)
17	g.42543795G>T	CA399604890	NAGLU	c.1789G>T (p.Val597Phe) c.1127G>T (n.1127G>T) c.958G>T (p.Val320Phe) c.790G>T (p.Val264Phe) c.1846G>T (p.Val616Phe)	gnomAD v4
17	g.42543796T>A	CA399604892	NAGLU	c.1790T>A (p.Val597Asp) c.1128T>A (n.1128T>A) c.959T>A (p.Val320Asp) c.791T>A (p.Val264Asp) c.1847T>A (p.Val616Asp)
17	g.42543796T>C	CA399604893	NAGLU	c.1790T>C (p.Val597Ala) c.1128T>C (n.1128T>C) c.959T>C (p.Val320Ala) c.791T>C (p.Val264Ala) c.1847T>C (p.Val616Ala)
17	g.42543796T>G	CA399604895	NAGLU	c.1790T>G (p.Val597Gly) c.1128T>G (n.1128T>G) c.959T>G (p.Val320Gly) c.791T>G (p.Val264Gly) c.1847T>G (p.Val616Gly)
17	g.42543797C>A	CA500217421	NAGLU	c.1791C>A (p.Val597=) c.1129C>A (n.1129C>A) c.960C>A (p.Val320=) c.792C>A (p.Val264=) c.1848C>A (p.Val616=)
17	g.42543797C>G	CA500217423	NAGLU	c.1791C>G (p.Val597=) c.1129C>G (n.1129C>G) c.960C>G (p.Val320=) c.792C>G (p.Val264=) c.1848C>G (p.Val616=)
17	g.42543797C>T	CA500217424	NAGLU	c.1791C>T (p.Val597=) c.1129C>T (n.1129C>T) c.960C>T (p.Val320=) c.792C>T (p.Val264=) c.1848C>T (p.Val616=)
17	g.42543798C>A	CA399604898	NAGLU	c.1792C>A (p.Leu598Met) c.1130C>A (n.1130C>A) c.961C>A (p.Leu321Met) c.793C>A (p.Leu265Met) c.1849C>A (p.Leu617Met)	gnomAD v4
17	g.42543798C>G	CA399604899	NAGLU	c.1792C>G (p.Leu598Val) c.1130C>G (n.1130C>G) c.961C>G (p.Leu321Val) c.793C>G (p.Leu265Val) c.1849C>G (p.Leu617Val)
17	g.42543798C>T	CA500217426	NAGLU	c.1792C>T (p.Leu598=) c.1130C>T (n.1130C>T) c.961C>T (p.Leu321=) c.793C>T (p.Leu265=) c.1849C>T (p.Leu617=)	gnomAD v4
17	g.42543799T>A	CA399604902	NAGLU	c.1793T>A (p.Leu598Gln) c.1131T>A (n.1131T>A) c.962T>A (p.Leu321Gln) c.794T>A (p.Leu265Gln) c.1850T>A (p.Leu617Gln)
17	g.42543799T>C	CA399604905	NAGLU	c.1793T>C (p.Leu598Pro) c.1131T>C (n.1131T>C) c.962T>C (p.Leu321Pro) c.794T>C (p.Leu265Pro) c.1850T>C (p.Leu617Pro)	gnomAD v4
17	g.42543799T>G	CA399604904	NAGLU	c.1793T>G (p.Leu598Arg) c.1131T>G (n.1131T>G) c.962T>G (p.Leu321Arg) c.794T>G (p.Leu265Arg) c.1850T>G (p.Leu617Arg)
17	g.42543800G>A	CA8577096	NAGLU	c.1794G>A (p.Leu598=) c.1132G>A (n.1132G>A) c.963G>A (p.Leu321=) c.795G>A (p.Leu265=) c.1851G>A (p.Leu617=)	ClinVar dbSNP ExAC gnomAD v2
17	g.42543800G>C	CA500217450	NAGLU	c.1794G>C (p.Leu598=) c.1132G>C (n.1132G>C) c.963G>C (p.Leu321=) c.795G>C (p.Leu265=) c.1851G>C (p.Leu617=)
17	g.42543800G=	CA2260530464	NAGLU	c.1794G= (p.Leu598=) c.1132G= (n.1132G=) c.963G= (p.Leu321=) c.795G= (p.Leu265=) c.1851G= (p.Leu617=)
17	g.42543800G>T	CA500217445	NAGLU	c.1794G>T (p.Leu598=) c.1132G>T (n.1132G>T) c.963G>T (p.Leu321=) c.795G>T (p.Leu265=) c.1851G>T (p.Leu617=)
17	g.42543801G>A	CA399604906	NAGLU	c.1795G>A (p.Ala599Thr) c.1133G>A (n.1133G>A) c.964G>A (p.Ala322Thr) c.796G>A (p.Ala266Thr) c.1852G>A (p.Ala618Thr)
17	g.42543801G>C	CA399604907	NAGLU	c.1795G>C (p.Ala599Pro) c.1133G>C (n.1133G>C) c.964G>C (p.Ala322Pro) c.796G>C (p.Ala266Pro) c.1852G>C (p.Ala618Pro)
17	g.42543801G>T	CA399604908	NAGLU	c.1795G>T (p.Ala599Ser) c.1133G>T (n.1133G>T) c.964G>T (p.Ala322Ser) c.796G>T (p.Ala266Ser) c.1852G>T (p.Ala618Ser)
17	g.42543802C>A	CA399604909	NAGLU	c.1796C>A (p.Ala599Asp) c.1134C>A (n.1134C>A) c.965C>A (p.Ala322Asp) c.797C>A (p.Ala266Asp) c.1853C>A (p.Ala618Asp)	gnomAD v4
17	g.42543802C=	CA2260530465	NAGLU	c.1796C= (p.Ala599=) c.1134C= (n.1134C=) c.965C= (p.Ala322=) c.797C= (p.Ala266=) c.1853C= (p.Ala618=)
17	g.42543802C>G	CA399604911	NAGLU	c.1796C>G (p.Ala599Gly) c.1134C>G (n.1134C>G) c.965C>G (p.Ala322Gly) c.797C>G (p.Ala266Gly) c.1853C>G (p.Ala618Gly)
17	g.42543802C>T	CA399604910	NAGLU	c.1796C>T (p.Ala599Val) c.1134C>T (n.1134C>T) c.965C>T (p.Ala322Val) c.797C>T (p.Ala266Val) c.1853C>T (p.Ala618Val)	dbSNP gnomAD v2 gnomAD v4
17	g.42543803C>A	CA500217474	NAGLU	c.1797C>A (p.Ala599=) c.1135C>A (n.1135C>A) c.966C>A (p.Ala322=) c.798C>A (p.Ala266=) c.1854C>A (p.Ala618=)
17	g.42543803C=	CA2260530466	NAGLU	c.1797C= (p.Ala599=) c.1135C= (n.1135C=) c.966C= (p.Ala322=) c.798C= (p.Ala266=) c.1854C= (p.Ala618=)
17	g.42543803C>G	CA8577097	NAGLU	c.1797C>G (p.Ala599=) c.1135C>G (n.1135C>G) c.966C>G (p.Ala322=) c.798C>G (p.Ala266=) c.1854C>G (p.Ala618=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.42543803C>T	CA500217472	NAGLU	c.1797C>T (p.Ala599=) c.1135C>T (n.1135C>T) c.966C>T (p.Ala322=) c.798C>T (p.Ala266=) c.1854C>T (p.Ala618=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.42543804T>A	CA399604912	NAGLU	c.1798T>A (p.Tyr600Asn) c.1136T>A (n.1136T>A) c.967T>A (p.Tyr323Asn) c.799T>A (p.Tyr267Asn) c.1855T>A (p.Tyr619Asn)
17	g.42543804T>C	CA399604913	NAGLU	c.1798T>C (p.Tyr600His) c.1136T>C (n.1136T>C) c.967T>C (p.Tyr323His) c.799T>C (p.Tyr267His) c.1855T>C (p.Tyr619His)
17	g.42543804T>G	CA399604914	NAGLU	c.1798T>G (p.Tyr600Asp) c.1136T>G (n.1136T>G) c.967T>G (p.Tyr323Asp) c.799T>G (p.Tyr267Asp) c.1855T>G (p.Tyr619Asp)
17	g.42543805A=	CA2260530467	NAGLU	c.1799A= (p.Tyr600=) c.1137A= (n.1137A=) c.968A= (p.Tyr323=) c.800A= (p.Tyr267=) c.1856A= (p.Tyr619=)
17	g.42543805A>C	CA399604915	NAGLU	c.1799A>C (p.Tyr600Ser) c.1137A>C (n.1137A>C) c.968A>C (p.Tyr323Ser) c.800A>C (p.Tyr267Ser) c.1856A>C (p.Tyr619Ser)
17	g.42543805A>G	CA399604916	NAGLU	c.1799A>G (p.Tyr600Cys) c.1137A>G (n.1137A>G) c.968A>G (p.Tyr323Cys) c.800A>G (p.Tyr267Cys) c.1856A>G (p.Tyr619Cys)	dbSNP gnomAD v4
17	g.42543805A>T	CA399604917	NAGLU	c.1799A>T (p.Tyr600Phe) c.1137A>T (n.1137A>T) c.968A>T (p.Tyr323Phe) c.800A>T (p.Tyr267Phe) c.1856A>T (p.Tyr619Phe)
17	g.42543806T>A	CA399604918	NAGLU	c.1800T>A (p.Tyr600Ter) c.1138T>A (n.1138T>A) c.969T>A (p.Tyr323Ter) c.801T>A (p.Tyr267Ter) c.1857T>A (p.Tyr619Ter)
17	g.42543806T>C	CA500217509	NAGLU	c.1800T>C (p.Tyr600=) c.1138T>C (n.1138T>C) c.969T>C (p.Tyr323=) c.801T>C (p.Tyr267=) c.1857T>C (p.Tyr619=)
17	g.42543806T>G	CA399604919	NAGLU	c.1800T>G (p.Tyr600Ter) c.1138T>G (n.1138T>G) c.969T>G (p.Tyr323Ter) c.801T>G (p.Tyr267Ter) c.1857T>G (p.Tyr619Ter)
17	g.42543806T=	CA2260530468	NAGLU	c.1800T= (p.Tyr600=) c.1138T= (n.1138T=) c.969T= (p.Tyr323=) c.801T= (p.Tyr267=) c.1857T= (p.Tyr619=)

Number of alleles fetched