Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.42543809_42543826dupCA626218629NAGLUc.1803_1820dup (p.Leu606_Asp607insGluLeuLeuProAlaLeu)
c.1141_1158dup (n.1141_1158dup)
c.972_989dup (p.Leu329_Asp330insGluLeuLeuProAlaLeu)
c.804_821dup (p.Leu273_Asp274insGluLeuLeuProAlaLeu)
c.1860_1877dup (p.Leu625_Asp626insGluLeuLeuProAlaLeu)
 dbSNP gnomAD v2 gnomAD v4
17g.42543808A>CCA399604924NAGLUc.1802A>C (p.Glu601Ala)
c.1140A>C (n.1140A>C)
c.971A>C (p.Glu324Ala)
c.803A>C (p.Glu268Ala)
c.1859A>C (p.Glu620Ala)
17g.42543808A>GCA399604925NAGLUc.1802A>G (p.Glu601Gly)
c.1140A>G (n.1140A>G)
c.971A>G (p.Glu324Gly)
c.803A>G (p.Glu268Gly)
c.1859A>G (p.Glu620Gly)
 gnomAD v4
17g.42543808A>TCA399604923NAGLUc.1802A>T (p.Glu601Val)
c.1140A>T (n.1140A>T)
c.971A>T (p.Glu324Val)
c.803A>T (p.Glu268Val)
c.1859A>T (p.Glu620Val)
17g.42543809G>ACA8577098NAGLUc.1803G>A (p.Glu601=)
c.1141G>A (n.1141G>A)
c.972G>A (p.Glu324=)
c.804G>A (p.Glu268=)
c.1860G>A (p.Glu620=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42543809G>CCA399604926NAGLUc.1803G>C (p.Glu601Asp)
c.1141G>C (n.1141G>C)
c.972G>C (p.Glu324Asp)
c.804G>C (p.Glu268Asp)
c.1860G>C (p.Glu620Asp)
17g.42543809G=CA2260530469NAGLUc.1803G= (p.Glu601=)
c.1141G= (n.1141G=)
c.972G= (p.Glu324=)
c.804G= (p.Glu268=)
c.1860G= (p.Glu620=)
17g.42543809G>TCA399604927NAGLUc.1803G>T (p.Glu601Asp)
c.1141G>T (n.1141G>T)
c.972G>T (p.Glu324Asp)
c.804G>T (p.Glu268Asp)
c.1860G>T (p.Glu620Asp)
 dbSNP gnomAD v2 gnomAD v4
17g.42543810C>ACA399604928NAGLUc.1804C>A (p.Leu602Met)
c.1142C>A (n.1142C>A)
c.973C>A (p.Leu325Met)
c.805C>A (p.Leu269Met)
c.1861C>A (p.Leu621Met)
 ClinVar gnomAD v4
17g.42543810C>GCA399604929NAGLUc.1804C>G (p.Leu602Val)
c.1142C>G (n.1142C>G)
c.973C>G (p.Leu325Val)
c.805C>G (p.Leu269Val)
c.1861C>G (p.Leu621Val)
 gnomAD v4
17g.42543810C>TCA500217535NAGLUc.1804C>T (p.Leu602=)
c.1142C>T (n.1142C>T)
c.973C>T (p.Leu325=)
c.805C>T (p.Leu269=)
c.1861C>T (p.Leu621=)
17g.42543811T>ACA399604930NAGLUc.1805T>A (p.Leu602Gln)
c.1143T>A (n.1143T>A)
c.974T>A (p.Leu325Gln)
c.806T>A (p.Leu269Gln)
c.1862T>A (p.Leu621Gln)
17g.42543811T>CCA399604934NAGLUc.1805T>C (p.Leu602Pro)
c.1143T>C (n.1143T>C)
c.974T>C (p.Leu325Pro)
c.806T>C (p.Leu269Pro)
c.1862T>C (p.Leu621Pro)
17g.42543811T>GCA399604932NAGLUc.1805T>G (p.Leu602Arg)
c.1143T>G (n.1143T>G)
c.974T>G (p.Leu325Arg)
c.806T>G (p.Leu269Arg)
c.1862T>G (p.Leu621Arg)
17g.42543812G>ACA500217563NAGLUc.1806G>A (p.Leu602=)
c.1144G>A (n.1144G>A)
c.975G>A (p.Leu325=)
c.807G>A (p.Leu269=)
c.1863G>A (p.Leu621=)
 ClinVar dbSNP
17g.42543812G>CCA500217565NAGLUc.1806G>C (p.Leu602=)
c.1144G>C (n.1144G>C)
c.975G>C (p.Leu325=)
c.807G>C (p.Leu269=)
c.1863G>C (p.Leu621=)
17g.42543812G>TCA500217569NAGLUc.1806G>T (p.Leu602=)
c.1144G>T (n.1144G>T)
c.975G>T (p.Leu325=)
c.807G>T (p.Leu269=)
c.1863G>T (p.Leu621=)
17g.42543813C>ACA399604935NAGLUc.1807C>A (p.Leu603Met)
c.1145C>A (n.1145C>A)
c.976C>A (p.Leu326Met)
c.808C>A (p.Leu270Met)
c.1864C>A (p.Leu622Met)
17g.42543813C>GCA399604936NAGLUc.1807C>G (p.Leu603Val)
c.1145C>G (n.1145C>G)
c.976C>G (p.Leu326Val)
c.808C>G (p.Leu270Val)
c.1864C>G (p.Leu622Val)
17g.42543813C>TCA500217576NAGLUc.1807C>T (p.Leu603=)
c.1145C>T (n.1145C>T)
c.976C>T (p.Leu326=)
c.808C>T (p.Leu270=)
c.1864C>T (p.Leu622=)
17g.42543814T>ACA399604940NAGLUc.1808T>A (p.Leu603Gln)
c.1146T>A (n.1146T>A)
c.977T>A (p.Leu326Gln)
c.809T>A (p.Leu270Gln)
c.1865T>A (p.Leu622Gln)
17g.42543814T>CCA399604941NAGLUc.1808T>C (p.Leu603Pro)
c.1146T>C (n.1146T>C)
c.977T>C (p.Leu326Pro)
c.809T>C (p.Leu270Pro)
c.1865T>C (p.Leu622Pro)
17g.42543814T>GCA399604942NAGLUc.1808T>G (p.Leu603Arg)
c.1146T>G (n.1146T>G)
c.977T>G (p.Leu326Arg)
c.809T>G (p.Leu270Arg)
c.1865T>G (p.Leu622Arg)
17g.42543815G>ACA500217590NAGLUc.1809G>A (p.Leu603=)
c.1147G>A (n.1147G>A)
c.978G>A (p.Leu326=)
c.810G>A (p.Leu270=)
c.1866G>A (p.Leu622=)
 dbSNP gnomAD v2
17g.42543815G>CCA500217593NAGLUc.1809G>C (p.Leu603=)
c.1147G>C (n.1147G>C)
c.978G>C (p.Leu326=)
c.810G>C (p.Leu270=)
c.1866G>C (p.Leu622=)
17g.42543815G=CA2260530470NAGLUc.1809G= (p.Leu603=)
c.1147G= (n.1147G=)
c.978G= (p.Leu326=)
c.810G= (p.Leu270=)
c.1866G= (p.Leu622=)
17g.42543815G>TCA500217588NAGLUc.1809G>T (p.Leu603=)
c.1147G>T (n.1147G>T)
c.978G>T (p.Leu326=)
c.810G>T (p.Leu270=)
c.1866G>T (p.Leu622=)
 gnomAD v4
17g.42543816C>ACA399604945NAGLUc.1810C>A (p.Pro604Thr)
c.1148C>A (n.1148C>A)
c.979C>A (p.Pro327Thr)
c.811C>A (p.Pro271Thr)
c.1867C>A (p.Pro623Thr)
 gnomAD v4
17g.42543816C=CA2260530471NAGLUc.1810C= (p.Pro604=)
c.1148C= (n.1148C=)
c.979C= (p.Pro327=)
c.811C= (p.Pro271=)
c.1867C= (p.Pro623=)
17g.42543816C>GCA399604947NAGLUc.1810C>G (p.Pro604Ala)
c.1148C>G (n.1148C>G)
c.979C>G (p.Pro327Ala)
c.811C>G (p.Pro271Ala)
c.1867C>G (p.Pro623Ala)
17g.42543816C>TCA399604948NAGLUc.1810C>T (p.Pro604Ser)
c.1148C>T (n.1148C>T)
c.979C>T (p.Pro327Ser)
c.811C>T (p.Pro271Ser)
c.1867C>T (p.Pro623Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42543817C>ACA399604951NAGLUc.1811C>A (p.Pro604Gln)
c.1149C>A (n.1149C>A)
c.980C>A (p.Pro327Gln)
c.812C>A (p.Pro271Gln)
c.1868C>A (p.Pro623Gln)
 gnomAD v4
17g.42543817C=CA2260530472NAGLUc.1811C= (p.Pro604=)
c.1149C= (n.1149C=)
c.980C= (p.Pro327=)
c.812C= (p.Pro271=)
c.1868C= (p.Pro623=)
17g.42543817C>GCA399604953NAGLUc.1811C>G (p.Pro604Arg)
c.1149C>G (n.1149C>G)
c.980C>G (p.Pro327Arg)
c.812C>G (p.Pro271Arg)
c.1868C>G (p.Pro623Arg)
17g.42543817C>TCA8577099NAGLUc.1811C>T (p.Pro604Leu)
c.1149C>T (n.1149C>T)
c.980C>T (p.Pro327Leu)
c.812C>T (p.Pro271Leu)
c.1868C>T (p.Pro623Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543818G>ACA8577101NAGLUc.1812G>A (p.Pro604=)
c.1150G>A (n.1150G>A)
c.981G>A (p.Pro327=)
c.813G>A (p.Pro271=)
c.1869G>A (p.Pro623=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543818G>CCA8577100NAGLUc.1812G>C (p.Pro604=)
c.1150G>C (n.1150G>C)
c.981G>C (p.Pro327=)
c.813G>C (p.Pro271=)
c.1869G>C (p.Pro623=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42543818G=CA2260530473NAGLUc.1812G= (p.Pro604=)
c.1150G= (n.1150G=)
c.981G= (p.Pro327=)
c.813G= (p.Pro271=)
c.1869G= (p.Pro623=)
17g.42543818G>TCA500217614NAGLUc.1812G>T (p.Pro604=)
c.1150G>T (n.1150G>T)
c.981G>T (p.Pro327=)
c.813G>T (p.Pro271=)
c.1869G>T (p.Pro623=)
 dbSNP gnomAD v2 gnomAD v4
17g.42543819G>ACA399604957NAGLUc.1813G>A (p.Ala605Thr)
c.1151G>A (n.1151G>A)
c.982G>A (p.Ala328Thr)
c.814G>A (p.Ala272Thr)
c.1870G>A (p.Ala624Thr)
 gnomAD v4
17g.42543819G>CCA399604958NAGLUc.1813G>C (p.Ala605Pro)
c.1151G>C (n.1151G>C)
c.982G>C (p.Ala328Pro)
c.814G>C (p.Ala272Pro)
c.1870G>C (p.Ala624Pro)
17g.42543819G>TCA399604960NAGLUc.1813G>T (p.Ala605Ser)
c.1151G>T (n.1151G>T)
c.982G>T (p.Ala328Ser)
c.814G>T (p.Ala272Ser)
c.1870G>T (p.Ala624Ser)
17g.42543820C>ACA399604963NAGLUc.1814C>A (p.Ala605Glu)
c.1152C>A (n.1152C>A)
c.983C>A (p.Ala328Glu)
c.815C>A (p.Ala272Glu)
c.1871C>A (p.Ala624Glu)
 gnomAD v4
17g.42543820C>GCA399604964NAGLUc.1814C>G (p.Ala605Gly)
c.1152C>G (n.1152C>G)
c.983C>G (p.Ala328Gly)
c.815C>G (p.Ala272Gly)
c.1871C>G (p.Ala624Gly)
17g.42543820C>TCA399604966NAGLUc.1814C>T (p.Ala605Val)
c.1152C>T (n.1152C>T)
c.983C>T (p.Ala328Val)
c.815C>T (p.Ala272Val)
c.1871C>T (p.Ala624Val)
 gnomAD v4
17g.42543821_42543827dupCA2573153975NAGLUc.1815_1821dup (p.Glu608ThrfsTer7)
c.1153_1159dup (n.1153_1159dup)
c.984_990dup (p.Glu331ThrfsTer7)
c.816_822dup (p.Glu275ThrfsTer7)
c.1872_1878dup (p.Glu627ThrfsTer7)
 ClinVar dbSNP
17g.42543821A>CCA500217638NAGLUc.1815A>C (p.Ala605=)
c.1153A>C (n.1153A>C)
c.984A>C (p.Ala328=)
c.816A>C (p.Ala272=)
c.1872A>C (p.Ala624=)
17g.42543821A>GCA500217635NAGLUc.1815A>G (p.Ala605=)
c.1153A>G (n.1153A>G)
c.984A>G (p.Ala328=)
c.816A>G (p.Ala272=)
c.1872A>G (p.Ala624=)
 ClinVar
17g.42543821A>TCA500217640NAGLUc.1815A>T (p.Ala605=)
c.1153A>T (n.1153A>T)
c.984A>T (p.Ala328=)
c.816A>T (p.Ala272=)
c.1872A>T (p.Ala624=)
17g.42543822C>ACA399604968NAGLUc.1816C>A (p.Leu606Met)
c.1154C>A (n.1154C>A)
c.985C>A (p.Leu329Met)
c.817C>A (p.Leu273Met)
c.1873C>A (p.Leu625Met)
17g.42543822C>GCA399604969NAGLUc.1816C>G (p.Leu606Val)
c.1154C>G (n.1154C>G)
c.985C>G (p.Leu329Val)
c.817C>G (p.Leu273Val)
c.1873C>G (p.Leu625Val)
17g.42543822C>TCA500217645NAGLUc.1816C>T (p.Leu606=)
c.1154C>T (n.1154C>T)
c.985C>T (p.Leu329=)
c.817C>T (p.Leu273=)
c.1873C>T (p.Leu625=)
17g.42543823T>ACA399604970NAGLUc.1817T>A (p.Leu606Gln)
c.1155T>A (n.1155T>A)
c.986T>A (p.Leu329Gln)
c.818T>A (p.Leu273Gln)
c.1874T>A (p.Leu625Gln)
17g.42543823T>CCA399604972NAGLUc.1817T>C (p.Leu606Pro)
c.1155T>C (n.1155T>C)
c.986T>C (p.Leu329Pro)
c.818T>C (p.Leu273Pro)
c.1874T>C (p.Leu625Pro)
 dbSNP gnomAD v4
17g.42543823T>GCA399604974NAGLUc.1817T>G (p.Leu606Arg)
c.1155T>G (n.1155T>G)
c.986T>G (p.Leu329Arg)
c.818T>G (p.Leu273Arg)
c.1874T>G (p.Leu625Arg)
17g.42543823T=CA2260530474NAGLUc.1817T= (p.Leu606=)
c.1155T= (n.1155T=)
c.986T= (p.Leu329=)
c.818T= (p.Leu273=)
c.1874T= (p.Leu625=)
17g.42543824G>ACA500217661NAGLUc.1818G>A (p.Leu606=)
c.1156G>A (n.1156G>A)
c.987G>A (p.Leu329=)
c.819G>A (p.Leu273=)
c.1875G>A (p.Leu625=)
17g.42543824G>CCA500217666NAGLUc.1818G>C (p.Leu606=)
c.1156G>C (n.1156G>C)
c.987G>C (p.Leu329=)
c.819G>C (p.Leu273=)
c.1875G>C (p.Leu625=)
17g.42543824G>TCA500217662NAGLUc.1818G>T (p.Leu606=)
c.1156G>T (n.1156G>T)
c.987G>T (p.Leu329=)
c.819G>T (p.Leu273=)
c.1875G>T (p.Leu625=)
17g.42543825G>ACA399604978NAGLUc.1819G>A (p.Asp607Asn)
c.1157G>A (n.1157G>A)
c.988G>A (p.Asp330Asn)
c.820G>A (p.Asp274Asn)
c.1876G>A (p.Asp626Asn)
17g.42543825G>CCA399604979NAGLUc.1819G>C (p.Asp607His)
c.1157G>C (n.1157G>C)
c.988G>C (p.Asp330His)
c.820G>C (p.Asp274His)
c.1876G>C (p.Asp626His)
17g.42543825G>TCA399604976NAGLUc.1819G>T (p.Asp607Tyr)
c.1157G>T (n.1157G>T)
c.988G>T (p.Asp330Tyr)
c.820G>T (p.Asp274Tyr)
c.1876G>T (p.Asp626Tyr)
17g.42543826A>CCA399604983NAGLUc.1820A>C (p.Asp607Ala)
c.1158A>C (n.1158A>C)
c.989A>C (p.Asp330Ala)
c.821A>C (p.Asp274Ala)
c.1877A>C (p.Asp626Ala)
17g.42543826A>GCA399604984NAGLUc.1820A>G (p.Asp607Gly)
c.1158A>G (n.1158A>G)
c.989A>G (p.Asp330Gly)
c.821A>G (p.Asp274Gly)
c.1877A>G (p.Asp626Gly)
17g.42543826A>TCA399604986NAGLUc.1820A>T (p.Asp607Val)
c.1158A>T (n.1158A>T)
c.989A>T (p.Asp330Val)
c.821A>T (p.Asp274Val)
c.1877A>T (p.Asp626Val)
17g.42543827C>ACA399604989NAGLUc.1821C>A (p.Asp607Glu)
c.1159C>A (n.1159C>A)
c.990C>A (p.Asp330Glu)
c.822C>A (p.Asp274Glu)
c.1878C>A (p.Asp626Glu)
17g.42543827C=CA2260530475NAGLUc.1821C= (p.Asp607=)
c.1159C= (n.1159C=)
c.990C= (p.Asp330=)
c.822C= (p.Asp274=)
c.1878C= (p.Asp626=)
17g.42543827C>GCA399604990NAGLUc.1821C>G (p.Asp607Glu)
c.1159C>G (n.1159C>G)
c.990C>G (p.Asp330Glu)
c.822C>G (p.Asp274Glu)
c.1878C>G (p.Asp626Glu)
 gnomAD v4
17g.42543827C>TCA8577102NAGLUc.1821C>T (p.Asp607=)
c.1159C>T (n.1159C>T)
c.990C>T (p.Asp330=)
c.822C>T (p.Asp274=)
c.1878C>T (p.Asp626=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.42543828G>ACA8577103NAGLUc.1822G>A (p.Glu608Lys)
c.1160G>A (n.1160G>A)
c.991G>A (p.Glu331Lys)
c.823G>A (p.Glu275Lys)
c.1879G>A (p.Glu627Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42543828G>CCA399604993NAGLUc.1822G>C (p.Glu608Gln)
c.1160G>C (n.1160G>C)
c.991G>C (p.Glu331Gln)
c.823G>C (p.Glu275Gln)
c.1879G>C (p.Glu627Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42543828G=CA2260530476NAGLUc.1822G= (p.Glu608=)
c.1160G= (n.1160G=)
c.991G= (p.Glu331=)
c.823G= (p.Glu275=)
c.1879G= (p.Glu627=)
17g.42543828G>TCA399604995NAGLUc.1822G>T (p.Glu608Ter)
c.1160G>T (n.1160G>T)
c.991G>T (p.Glu331Ter)
c.823G>T (p.Glu275Ter)
c.1879G>T (p.Glu627Ter)
 dbSNP gnomAD v4
17g.42543829A>CCA399604998NAGLUc.1823A>C (p.Glu608Ala)
c.1161A>C (n.1161A>C)
c.992A>C (p.Glu331Ala)
c.824A>C (p.Glu275Ala)
c.1880A>C (p.Glu627Ala)
17g.42543829A>GCA399604999NAGLUc.1823A>G (p.Glu608Gly)
c.1161A>G (n.1161A>G)
c.992A>G (p.Glu331Gly)
c.824A>G (p.Glu275Gly)
c.1880A>G (p.Glu627Gly)
17g.42543829A>TCA399605001NAGLUc.1823A>T (p.Glu608Val)
c.1161A>T (n.1161A>T)
c.992A>T (p.Glu331Val)
c.824A>T (p.Glu275Val)
c.1880A>T (p.Glu627Val)
17g.42543830G>ACA500217716NAGLUc.1824G>A (p.Glu608=)
c.1162G>A (n.1162G>A)
c.993G>A (p.Glu331=)
c.825G>A (p.Glu275=)
c.1881G>A (p.Glu627=)
 ClinVar
17g.42543830G>CCA399605003NAGLUc.1824G>C (p.Glu608Asp)
c.1162G>C (n.1162G>C)
c.993G>C (p.Glu331Asp)
c.825G>C (p.Glu275Asp)
c.1881G>C (p.Glu627Asp)
17g.42543830G>TCA399605005NAGLUc.1824G>T (p.Glu608Asp)
c.1162G>T (n.1162G>T)
c.993G>T (p.Glu331Asp)
c.825G>T (p.Glu275Asp)
c.1881G>T (p.Glu627Asp)
17g.42543831G>ACA399605007NAGLUc.1825G>A (p.Val609Met)
c.1163G>A (n.1163G>A)
c.994G>A (p.Val332Met)
c.826G>A (p.Val276Met)
c.1882G>A (p.Val628Met)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42543831G>CCA399605010NAGLUc.1825G>C (p.Val609Leu)
c.1163G>C (n.1163G>C)
c.994G>C (p.Val332Leu)
c.826G>C (p.Val276Leu)
c.1882G>C (p.Val628Leu)
17g.42543831G=CA2260530477NAGLUc.1825G= (p.Val609=)
c.1163G= (n.1163G=)
c.994G= (p.Val332=)
c.826G= (p.Val276=)
c.1882G= (p.Val628=)
17g.42543831G>TCA399605009NAGLUc.1825G>T (p.Val609Leu)
c.1163G>T (n.1163G>T)
c.994G>T (p.Val332Leu)
c.826G>T (p.Val276Leu)
c.1882G>T (p.Val628Leu)
 dbSNP gnomAD v2 gnomAD v4
17g.42543832T>ACA399605011NAGLUc.1826T>A (p.Val609Glu)
c.1164T>A (n.1164T>A)
c.995T>A (p.Val332Glu)
c.827T>A (p.Val276Glu)
c.1883T>A (p.Val628Glu)
17g.42543832T>CCA399605013NAGLUc.1826T>C (p.Val609Ala)
c.1164T>C (n.1164T>C)
c.995T>C (p.Val332Ala)
c.827T>C (p.Val276Ala)
c.1883T>C (p.Val628Ala)
 dbSNP gnomAD v2 gnomAD v4
17g.42543832T>GCA399605015NAGLUc.1826T>G (p.Val609Gly)
c.1164T>G (n.1164T>G)
c.995T>G (p.Val332Gly)
c.827T>G (p.Val276Gly)
c.1883T>G (p.Val628Gly)
 gnomAD v4
17g.42543832T=CA2260530478NAGLUc.1826T= (p.Val609=)
c.1164T= (n.1164T=)
c.995T= (p.Val332=)
c.827T= (p.Val276=)
c.1883T= (p.Val628=)
17g.42543833G>ACA500217751NAGLUc.1827G>A (p.Val609=)
c.1165G>A (n.1165G>A)
c.996G>A (p.Val332=)
c.828G>A (p.Val276=)
c.1884G>A (p.Val628=)
 gnomAD v4
17g.42543833G>CCA500217742NAGLUc.1827G>C (p.Val609=)
c.1165G>C (n.1165G>C)
c.996G>C (p.Val332=)
c.828G>C (p.Val276=)
c.1884G>C (p.Val628=)
17g.42543833G>TCA500217749NAGLUc.1827G>T (p.Val609=)
c.1165G>T (n.1165G>T)
c.996G>T (p.Val332=)
c.828G>T (p.Val276=)
c.1884G>T (p.Val628=)
17g.42543834C>ACA399605017NAGLUc.1828C>A (p.Leu610Met)
c.1166C>A (n.1166C>A)
c.997C>A (p.Leu333Met)
c.829C>A (p.Leu277Met)
c.1885C>A (p.Leu629Met)
 ClinVar dbSNP gnomAD v2
17g.42543834C=CA2260530479NAGLUc.1828C= (p.Leu610=)
c.1166C= (n.1166C=)
c.997C= (p.Leu333=)
c.829C= (p.Leu277=)
c.1885C= (p.Leu629=)
17g.42543834C>GCA399605019NAGLUc.1828C>G (p.Leu610Val)
c.1166C>G (n.1166C>G)
c.997C>G (p.Leu333Val)
c.829C>G (p.Leu277Val)
c.1885C>G (p.Leu629Val)
17g.42543834C>TCA500217757NAGLUc.1828C>T (p.Leu610=)
c.1166C>T (n.1166C>T)
c.997C>T (p.Leu333=)
c.829C>T (p.Leu277=)
c.1885C>T (p.Leu629=)
 ClinVar dbSNP gnomAD v4
17g.42543835T>ACA399605021NAGLUc.1829T>A (p.Leu610Gln)
c.1167T>A (n.1167T>A)
c.998T>A (p.Leu333Gln)
c.830T>A (p.Leu277Gln)
c.1886T>A (p.Leu629Gln)
17g.42543835T>CCA399605023NAGLUc.1829T>C (p.Leu610Pro)
c.1167T>C (n.1167T>C)
c.998T>C (p.Leu333Pro)
c.830T>C (p.Leu277Pro)
c.1886T>C (p.Leu629Pro)
17g.42543835T>GCA399605025NAGLUc.1829T>G (p.Leu610Arg)
c.1167T>G (n.1167T>G)
c.998T>G (p.Leu333Arg)
c.830T>G (p.Leu277Arg)
c.1886T>G (p.Leu629Arg)
17g.42543836G>ACA500217771NAGLUc.1830G>A (p.Leu610=)
c.1168G>A (n.1168G>A)
c.999G>A (p.Leu333=)
c.831G>A (p.Leu277=)
c.1887G>A (p.Leu629=)
17g.42543836G>CCA500217774NAGLUc.1830G>C (p.Leu610=)
c.1168G>C (n.1168G>C)
c.999G>C (p.Leu333=)
c.831G>C (p.Leu277=)
c.1887G>C (p.Leu629=)
17g.42543836G>TCA500217778NAGLUc.1830G>T (p.Leu610=)
c.1168G>T (n.1168G>T)
c.999G>T (p.Leu333=)
c.831G>T (p.Leu277=)
c.1887G>T (p.Leu629=)
 gnomAD v4
17g.42543837G>ACA399605027NAGLUc.1831G>A (p.Ala611Thr)
c.1169G>A (n.1169G>A)
c.1000G>A (p.Ala334Thr)
c.832G>A (p.Ala278Thr)
c.1888G>A (p.Ala630Thr)
 dbSNP
17g.42543837G>CCA399605028NAGLUc.1831G>C (p.Ala611Pro)
c.1169G>C (n.1169G>C)
c.1000G>C (p.Ala334Pro)
c.832G>C (p.Ala278Pro)
c.1888G>C (p.Ala630Pro)
17g.42543837G=CA2260530480NAGLUc.1831G= (p.Ala611=)
c.1169G= (n.1169G=)
c.1000G= (p.Ala334=)
c.832G= (p.Ala278=)
c.1888G= (p.Ala630=)
17g.42543837G>TCA399605030NAGLUc.1831G>T (p.Ala611Ser)
c.1169G>T (n.1169G>T)
c.1000G>T (p.Ala334Ser)
c.832G>T (p.Ala278Ser)
c.1888G>T (p.Ala630Ser)
17g.42543838C>ACA399605034NAGLUc.1832C>A (p.Ala611Asp)
c.1170C>A (n.1170C>A)
c.1001C>A (p.Ala334Asp)
c.833C>A (p.Ala278Asp)
c.1889C>A (p.Ala630Asp)
 gnomAD v4
17g.42543838C>GCA399605033NAGLUc.1832C>G (p.Ala611Gly)
c.1170C>G (n.1170C>G)
c.1001C>G (p.Ala334Gly)
c.833C>G (p.Ala278Gly)
c.1889C>G (p.Ala630Gly)
17g.42543838C>TCA399605032NAGLUc.1832C>T (p.Ala611Val)
c.1170C>T (n.1170C>T)
c.1001C>T (p.Ala334Val)
c.833C>T (p.Ala278Val)
c.1889C>T (p.Ala630Val)
17g.42543839T>ACA500217803NAGLUc.1833T>A (p.Ala611=)
c.1171T>A (n.1171T>A)
c.1002T>A (p.Ala334=)
c.834T>A (p.Ala278=)
c.1890T>A (p.Ala630=)
17g.42543839T>CCA500217799NAGLUc.1833T>C (p.Ala611=)
c.1171T>C (n.1171T>C)
c.1002T>C (p.Ala334=)
c.834T>C (p.Ala278=)
c.1890T>C (p.Ala630=)
17g.42543839T>GCA500217796NAGLUc.1833T>G (p.Ala611=)
c.1171T>G (n.1171T>G)
c.1002T>G (p.Ala334=)
c.834T>G (p.Ala278=)
c.1890T>G (p.Ala630=)
 ClinVar
17g.42543840A=CA2260530481NAGLUc.1834A= (p.Ser612=)
c.1172A= (n.1172A=)
c.1003A= (p.Ser335=)
c.835A= (p.Ser279=)
c.1891A= (p.Ser631=)
17g.42543840A>CCA399605036NAGLUc.1834A>C (p.Ser612Arg)
c.1172A>C (n.1172A>C)
c.1003A>C (p.Ser335Arg)
c.835A>C (p.Ser279Arg)
c.1891A>C (p.Ser631Arg)
17g.42543840A>GCA8577104NAGLUc.1834A>G (p.Ser612Gly)
c.1172A>G (n.1172A>G)
c.1003A>G (p.Ser335Gly)
c.835A>G (p.Ser279Gly)
c.1891A>G (p.Ser631Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543840A>TCA399605038NAGLUc.1834A>T (p.Ser612Cys)
c.1172A>T (n.1172A>T)
c.1003A>T (p.Ser335Cys)
c.835A>T (p.Ser279Cys)
c.1891A>T (p.Ser631Cys)
17g.42543841G>ACA399605041NAGLUc.1835G>A (p.Ser612Asn)
c.1173G>A (n.1173G>A)
c.1004G>A (p.Ser335Asn)
c.836G>A (p.Ser279Asn)
c.1892G>A (p.Ser631Asn)
17g.42543841G>CCA399605042NAGLUc.1835G>C (p.Ser612Thr)
c.1173G>C (n.1173G>C)
c.1004G>C (p.Ser335Thr)
c.836G>C (p.Ser279Thr)
c.1892G>C (p.Ser631Thr)
17g.42543841G>TCA399605044NAGLUc.1835G>T (p.Ser612Ile)
c.1173G>T (n.1173G>T)
c.1004G>T (p.Ser335Ile)
c.836G>T (p.Ser279Ile)
c.1892G>T (p.Ser631Ile)
17g.42543842T>ACA399605046NAGLUc.1836T>A (p.Ser612Arg)
c.1174T>A (n.1174T>A)
c.1005T>A (p.Ser335Arg)
c.837T>A (p.Ser279Arg)
c.1893T>A (p.Ser631Arg)
17g.42543842T>CCA500217833NAGLUc.1836T>C (p.Ser612=)
c.1174T>C (n.1174T>C)
c.1005T>C (p.Ser335=)
c.837T>C (p.Ser279=)
c.1893T>C (p.Ser631=)
17g.42543842T>GCA399605048NAGLUc.1836T>G (p.Ser612Arg)
c.1174T>G (n.1174T>G)
c.1005T>G (p.Ser335Arg)
c.837T>G (p.Ser279Arg)
c.1893T>G (p.Ser631Arg)
17g.42543843G>ACA399605049NAGLUc.1837G>A (p.Asp613Asn)
c.1175G>A (n.1175G>A)
c.1006G>A (p.Asp336Asn)
c.838G>A (p.Asp280Asn)
c.1894G>A (p.Asp632Asn)
17g.42543843G>CCA399605050NAGLUc.1837G>C (p.Asp613His)
c.1175G>C (n.1175G>C)
c.1006G>C (p.Asp336His)
c.838G>C (p.Asp280His)
c.1894G>C (p.Asp632His)
17g.42543843G>TCA399605052NAGLUc.1837G>T (p.Asp613Tyr)
c.1175G>T (n.1175G>T)
c.1006G>T (p.Asp336Tyr)
c.838G>T (p.Asp280Tyr)
c.1894G>T (p.Asp632Tyr)
 gnomAD v4
17g.42543844A=CA2260530482NAGLUc.1838A= (p.Asp613=)
c.1176A= (n.1176A=)
c.1007A= (p.Asp336=)
c.839A= (p.Asp280=)
c.1895A= (p.Asp632=)
17g.42543844A>CCA399605054NAGLUc.1838A>C (p.Asp613Ala)
c.1176A>C (n.1176A>C)
c.1007A>C (p.Asp336Ala)
c.839A>C (p.Asp280Ala)
c.1895A>C (p.Asp632Ala)
 dbSNP
17g.42543844A>GCA399605056NAGLUc.1838A>G (p.Asp613Gly)
c.1176A>G (n.1176A>G)
c.1007A>G (p.Asp336Gly)
c.839A>G (p.Asp280Gly)
c.1895A>G (p.Asp632Gly)
 dbSNP gnomAD v3 gnomAD v4
17g.42543844A>TCA399605058NAGLUc.1838A>T (p.Asp613Val)
c.1176A>T (n.1176A>T)
c.1007A>T (p.Asp336Val)
c.839A>T (p.Asp280Val)
c.1895A>T (p.Asp632Val)
17g.42543845C>ACA399605063NAGLUc.1839C>A (p.Asp613Glu)
c.1177C>A (n.1177C>A)
c.1008C>A (p.Asp336Glu)
c.840C>A (p.Asp280Glu)
c.1896C>A (p.Asp632Glu)
17g.42543845C=CA2260530483NAGLUc.1839C= (p.Asp613=)
c.1177C= (n.1177C=)
c.1008C= (p.Asp336=)
c.840C= (p.Asp280=)
c.1896C= (p.Asp632=)
17g.42543845C>GCA399605060NAGLUc.1839C>G (p.Asp613Glu)
c.1177C>G (n.1177C>G)
c.1008C>G (p.Asp336Glu)
c.840C>G (p.Asp280Glu)
c.1896C>G (p.Asp632Glu)
17g.42543845C>TCA8577105NAGLUc.1839C>T (p.Asp613=)
c.1177C>T (n.1177C>T)
c.1008C>T (p.Asp336=)
c.840C>T (p.Asp280=)
c.1896C>T (p.Asp632=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543846A>CCA399605065NAGLUc.1840A>C (p.Ser614Arg)
c.1178A>C (n.1178A>C)
c.1009A>C (p.Ser337Arg)
c.841A>C (p.Ser281Arg)
c.1897A>C (p.Ser633Arg)
17g.42543846A>GCA399605067NAGLUc.1840A>G (p.Ser614Gly)
c.1178A>G (n.1178A>G)
c.1009A>G (p.Ser337Gly)
c.841A>G (p.Ser281Gly)
c.1897A>G (p.Ser633Gly)
17g.42543846A>TCA399605069NAGLUc.1840A>T (p.Ser614Cys)
c.1178A>T (n.1178A>T)
c.1009A>T (p.Ser337Cys)
c.841A>T (p.Ser281Cys)
c.1897A>T (p.Ser633Cys)
17g.42543847G>ACA399605071NAGLUc.1841G>A (p.Ser614Asn)
c.1179G>A (n.1179G>A)
c.1010G>A (p.Ser337Asn)
c.842G>A (p.Ser281Asn)
c.1898G>A (p.Ser633Asn)
17g.42543847G>CCA399605072NAGLUc.1841G>C (p.Ser614Thr)
c.1179G>C (n.1179G>C)
c.1010G>C (p.Ser337Thr)
c.842G>C (p.Ser281Thr)
c.1898G>C (p.Ser633Thr)
17g.42543847G>TCA399605075NAGLUc.1841G>T (p.Ser614Ile)
c.1179G>T (n.1179G>T)
c.1010G>T (p.Ser337Ile)
c.842G>T (p.Ser281Ile)
c.1898G>T (p.Ser633Ile)
17g.42543848C>ACA399605078NAGLUc.1842C>A (p.Ser614Arg)
c.1180C>A (n.1180C>A)
c.1011C>A (p.Ser337Arg)
c.843C>A (p.Ser281Arg)
c.1899C>A (p.Ser633Arg)
17g.42543848C=CA2260530484NAGLUc.1842C= (p.Ser614=)
c.1180C= (n.1180C=)
c.1011C= (p.Ser337=)
c.843C= (p.Ser281=)
c.1899C= (p.Ser633=)
17g.42543848C>GCA399605081NAGLUc.1842C>G (p.Ser614Arg)
c.1180C>G (n.1180C>G)
c.1011C>G (p.Ser337Arg)
c.843C>G (p.Ser281Arg)
c.1899C>G (p.Ser633Arg)
17g.42543848C>TCA500217883NAGLUc.1842C>T (p.Ser614=)
c.1180C>T (n.1180C>T)
c.1011C>T (p.Ser337=)
c.843C>T (p.Ser281=)
c.1899C>T (p.Ser633=)
 ClinVar dbSNP gnomAD v4 COSMIC
17g.42543849C>ACA399605084NAGLUc.1843C>A (p.Arg615Ser)
c.1181C>A (n.1181C>A)
c.1012C>A (p.Arg338Ser)
c.844C>A (p.Arg282Ser)
c.1900C>A (p.Arg634Ser)
 gnomAD v4
17g.42543849C=CA2260530485NAGLUc.1843C= (p.Arg615=)
c.1181C= (n.1181C=)
c.1012C= (p.Arg338=)
c.844C= (p.Arg282=)
c.1900C= (p.Arg634=)
17g.42543849C>GCA399605087NAGLUc.1843C>G (p.Arg615Gly)
c.1181C>G (n.1181C>G)
c.1012C>G (p.Arg338Gly)
c.844C>G (p.Arg282Gly)
c.1900C>G (p.Arg634Gly)
 gnomAD v4
17g.42543849C>TCA8577106NAGLUc.1843C>T (p.Arg615Cys)
c.1181C>T (n.1181C>T)
c.1012C>T (p.Arg338Cys)
c.844C>T (p.Arg282Cys)
c.1900C>T (p.Arg634Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543850G>ACA290781065NAGLUc.1844G>A (p.Arg615His)
c.1182G>A (n.1182G>A)
c.1013G>A (p.Arg338His)
c.845G>A (p.Arg282His)
c.1901G>A (p.Arg634His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42543850G>CCA399605097NAGLUc.1844G>C (p.Arg615Pro)
c.1182G>C (n.1182G>C)
c.1013G>C (p.Arg338Pro)
c.845G>C (p.Arg282Pro)
c.1901G>C (p.Arg634Pro)
17g.42543850G=CA2260530486NAGLUc.1844G= (p.Arg615=)
c.1182G= (n.1182G=)
c.1013G= (p.Arg338=)
c.845G= (p.Arg282=)
c.1901G= (p.Arg634=)
17g.42543850G>TCA399605096NAGLUc.1844G>T (p.Arg615Leu)
c.1182G>T (n.1182G>T)
c.1013G>T (p.Arg338Leu)
c.845G>T (p.Arg282Leu)
c.1901G>T (p.Arg634Leu)
 gnomAD v4
17g.42543851C>ACA500217914NAGLUc.1845C>A (p.Arg615=)
c.1183C>A (n.1183C>A)
c.1014C>A (p.Arg338=)
c.846C>A (p.Arg282=)
c.1902C>A (p.Arg634=)
17g.42543851C=CA2260530487NAGLUc.1845C= (p.Arg615=)
c.1183C= (n.1183C=)
c.1014C= (p.Arg338=)
c.846C= (p.Arg282=)
c.1902C= (p.Arg634=)
17g.42543851C>GCA500217908NAGLUc.1845C>G (p.Arg615=)
c.1183C>G (n.1183C>G)
c.1014C>G (p.Arg338=)
c.846C>G (p.Arg282=)
c.1902C>G (p.Arg634=)
17g.42543851C>TCA500217911NAGLUc.1845C>T (p.Arg615=)
c.1183C>T (n.1183C>T)
c.1014C>T (p.Arg338=)
c.846C>T (p.Arg282=)
c.1902C>T (p.Arg634=)
 dbSNP gnomAD v2 gnomAD v4
17g.42543852T>ACA399605099NAGLUc.1846T>A (p.Phe616Ile)
c.1184T>A (n.1184T>A)
c.1015T>A (p.Phe339Ile)
c.847T>A (p.Phe283Ile)
c.1903T>A (p.Phe635Ile)
17g.42543852T>CCA399605100NAGLUc.1846T>C (p.Phe616Leu)
c.1184T>C (n.1184T>C)
c.1015T>C (p.Phe339Leu)
c.847T>C (p.Phe283Leu)
c.1903T>C (p.Phe635Leu)
17g.42543852T>GCA399605103NAGLUc.1846T>G (p.Phe616Val)
c.1184T>G (n.1184T>G)
c.1015T>G (p.Phe339Val)
c.847T>G (p.Phe283Val)
c.1903T>G (p.Phe635Val)
17g.42543853delCA2637971661NAGLUc.1847del (p.Phe616SerfsTer7)
c.1185del (n.1185del)
c.1016del (p.Phe339SerfsTer7)
c.848del (p.Phe283SerfsTer7)
c.1904del (p.Phe635SerfsTer7)
 gnomAD v4
17g.42543853T>ACA399605105NAGLUc.1847T>A (p.Phe616Tyr)
c.1185T>A (n.1185T>A)
c.1016T>A (p.Phe339Tyr)
c.848T>A (p.Phe283Tyr)
c.1904T>A (p.Phe635Tyr)
17g.42543853T>CCA399605107NAGLUc.1847T>C (p.Phe616Ser)
c.1185T>C (n.1185T>C)
c.1016T>C (p.Phe339Ser)
c.848T>C (p.Phe283Ser)
c.1904T>C (p.Phe635Ser)
17g.42543853T>GCA399605110NAGLUc.1847T>G (p.Phe616Cys)
c.1185T>G (n.1185T>G)
c.1016T>G (p.Phe339Cys)
c.848T>G (p.Phe283Cys)
c.1904T>G (p.Phe635Cys)
17g.42543854C>ACA399605112NAGLUc.1848C>A (p.Phe616Leu)
c.1186C>A (n.1186C>A)
c.1017C>A (p.Phe339Leu)
c.849C>A (p.Phe283Leu)
c.1905C>A (p.Phe635Leu)
 gnomAD v4
17g.42543854C>GCA399605115NAGLUc.1848C>G (p.Phe616Leu)
c.1186C>G (n.1186C>G)
c.1017C>G (p.Phe339Leu)
c.849C>G (p.Phe283Leu)
c.1905C>G (p.Phe635Leu)
17g.42543854C>TCA500217932NAGLUc.1848C>T (p.Phe616=)
c.1186C>T (n.1186C>T)
c.1017C>T (p.Phe339=)
c.849C>T (p.Phe283=)
c.1905C>T (p.Phe635=)
 COSMIC
17g.42543855T>ACA399605119NAGLUc.1849T>A (p.Leu617Met)
c.1187T>A (n.1187T>A)
c.1018T>A (p.Leu340Met)
c.850T>A (p.Leu284Met)
c.1906T>A (p.Leu636Met)
17g.42543855T>CCA500217945NAGLUc.1849T>C (p.Leu617=)
c.1187T>C (n.1187T>C)
c.1018T>C (p.Leu340=)
c.850T>C (p.Leu284=)
c.1906T>C (p.Leu636=)
17g.42543855T>GCA399605120NAGLUc.1849T>G (p.Leu617Val)
c.1187T>G (n.1187T>G)
c.1018T>G (p.Leu340Val)
c.850T>G (p.Leu284Val)
c.1906T>G (p.Leu636Val)
17g.42543856T>ACA399605123NAGLUc.1850T>A (p.Leu617Ter)
c.1188T>A (n.1188T>A)
c.1019T>A (p.Leu340Ter)
c.851T>A (p.Leu284Ter)
c.1907T>A (p.Leu636Ter)
17g.42543856T>CCA399605124NAGLUc.1850T>C (p.Leu617Ser)
c.1188T>C (n.1188T>C)
c.1019T>C (p.Leu340Ser)
c.851T>C (p.Leu284Ser)
c.1907T>C (p.Leu636Ser)
17g.42543856T>GCA399605127NAGLUc.1850T>G (p.Leu617Trp)
c.1188T>G (n.1188T>G)
c.1019T>G (p.Leu340Trp)
c.851T>G (p.Leu284Trp)
c.1907T>G (p.Leu636Trp)
17g.42543857G>ACA500217957NAGLUc.1851G>A (p.Leu617=)
c.1189G>A (n.1189G>A)
c.1020G>A (p.Leu340=)
c.852G>A (p.Leu284=)
c.1908G>A (p.Leu636=)
 gnomAD v4
17g.42543857G>CCA399605132NAGLUc.1851G>C (p.Leu617Phe)
c.1189G>C (n.1189G>C)
c.1020G>C (p.Leu340Phe)
c.852G>C (p.Leu284Phe)
c.1908G>C (p.Leu636Phe)
17g.42543857G=CA2260530488NAGLUc.1851G= (p.Leu617=)
c.1189G= (n.1189G=)
c.1020G= (p.Leu340=)
c.852G= (p.Leu284=)
c.1908G= (p.Leu636=)
17g.42543857G>TCA399605130NAGLUc.1851G>T (p.Leu617Phe)
c.1189G>T (n.1189G>T)
c.1020G>T (p.Leu340Phe)
c.852G>T (p.Leu284Phe)
c.1908G>T (p.Leu636Phe)
 ClinVar dbSNP gnomAD v4
17g.42543858C>ACA399605136NAGLUc.1852C>A (p.Leu618Met)
c.1190C>A (n.1190C>A)
c.1021C>A (p.Leu341Met)
c.853C>A (p.Leu285Met)
c.1909C>A (p.Leu637Met)
 gnomAD v4
17g.42543858C>GCA399605138NAGLUc.1852C>G (p.Leu618Val)
c.1190C>G (n.1190C>G)
c.1021C>G (p.Leu341Val)
c.853C>G (p.Leu285Val)
c.1909C>G (p.Leu637Val)
17g.42543858C>TCA500217962NAGLUc.1852C>T (p.Leu618=)
c.1190C>T (n.1190C>T)
c.1021C>T (p.Leu341=)
c.853C>T (p.Leu285=)
c.1909C>T (p.Leu637=)
 ClinVar gnomAD v4
17g.42543859T>ACA399605142NAGLUc.1853T>A (p.Leu618Gln)
c.1191T>A (n.1191T>A)
c.1022T>A (p.Leu341Gln)
c.854T>A (p.Leu285Gln)
c.1910T>A (p.Leu637Gln)
17g.42543859T>CCA399605145NAGLUc.1853T>C (p.Leu618Pro)
c.1191T>C (n.1191T>C)
c.1022T>C (p.Leu341Pro)
c.854T>C (p.Leu285Pro)
c.1910T>C (p.Leu637Pro)
 ClinVar dbSNP gnomAD v4
17g.42543859T>GCA399605148NAGLUc.1853T>G (p.Leu618Arg)
c.1191T>G (n.1191T>G)
c.1022T>G (p.Leu341Arg)
c.854T>G (p.Leu285Arg)
c.1910T>G (p.Leu637Arg)
17g.42543860G>ACA500217990NAGLUc.1854G>A (p.Leu618=)
c.1192G>A (n.1192G>A)
c.1023G>A (p.Leu341=)
c.855G>A (p.Leu285=)
c.1911G>A (p.Leu637=)
17g.42543860G>CCA500217995NAGLUc.1854G>C (p.Leu618=)
c.1192G>C (n.1192G>C)
c.1023G>C (p.Leu341=)
c.855G>C (p.Leu285=)
c.1911G>C (p.Leu637=)
17g.42543860G>TCA500217992NAGLUc.1854G>T (p.Leu618=)
c.1192G>T (n.1192G>T)
c.1023G>T (p.Leu341=)
c.855G>T (p.Leu285=)
c.1911G>T (p.Leu637=)
 gnomAD v4
17g.42543861G>ACA399605151NAGLUc.1855G>A (p.Gly619Ser)
c.1193G>A (n.1193G>A)
c.1024G>A (p.Gly342Ser)
c.856G>A (p.Gly286Ser)
c.1912G>A (p.Gly638Ser)
 gnomAD v4
17g.42543861G>CCA399605156NAGLUc.1855G>C (p.Gly619Arg)
c.1193G>C (n.1193G>C)
c.1024G>C (p.Gly342Arg)
c.856G>C (p.Gly286Arg)
c.1912G>C (p.Gly638Arg)
17g.42543861G>TCA399605158NAGLUc.1855G>T (p.Gly619Cys)
c.1193G>T (n.1193G>T)
c.1024G>T (p.Gly342Cys)
c.856G>T (p.Gly286Cys)
c.1912G>T (p.Gly638Cys)
17g.42543862G>ACA399605160NAGLUc.1856G>A (p.Gly619Asp)
c.1194G>A (n.1194G>A)
c.1025G>A (p.Gly342Asp)
c.857G>A (p.Gly286Asp)
c.1913G>A (p.Gly638Asp)
 dbSNP gnomAD v2 gnomAD v4
17g.42543862G>CCA399605162NAGLUc.1856G>C (p.Gly619Ala)
c.1194G>C (n.1194G>C)
c.1025G>C (p.Gly342Ala)
c.857G>C (p.Gly286Ala)
c.1913G>C (p.Gly638Ala)
17g.42543862G=CA2260530489NAGLUc.1856G= (p.Gly619=)
c.1194G= (n.1194G=)
c.1025G= (p.Gly342=)
c.857G= (p.Gly286=)
c.1913G= (p.Gly638=)
17g.42543862G>TCA399605165NAGLUc.1856G>T (p.Gly619Val)
c.1194G>T (n.1194G>T)
c.1025G>T (p.Gly342Val)
c.857G>T (p.Gly286Val)
c.1913G>T (p.Gly638Val)
17g.42543863C>ACA500218016NAGLUc.1857C>A (p.Gly619=)
c.1195C>A (n.1195C>A)
c.1026C>A (p.Gly342=)
c.858C>A (p.Gly286=)
c.1914C>A (p.Gly638=)
 gnomAD v4
17g.42543863C>GCA500218008NAGLUc.1857C>G (p.Gly619=)
c.1195C>G (n.1195C>G)
c.1026C>G (p.Gly342=)
c.858C>G (p.Gly286=)
c.1914C>G (p.Gly638=)
17g.42543863C>TCA500218013NAGLUc.1857C>T (p.Gly619=)
c.1195C>T (n.1195C>T)
c.1026C>T (p.Gly342=)
c.858C>T (p.Gly286=)
c.1914C>T (p.Gly638=)
 ClinVar gnomAD v4
17g.42543864A=CA2260530490NAGLUc.1858A= (p.Ser620=)
c.1196A= (n.1196A=)
c.1027A= (p.Ser343=)
c.859A= (p.Ser287=)
c.1915A= (p.Ser639=)
17g.42543864A>CCA399605169NAGLUc.1858A>C (p.Ser620Arg)
c.1196A>C (n.1196A>C)
c.1027A>C (p.Ser343Arg)
c.859A>C (p.Ser287Arg)
c.1915A>C (p.Ser639Arg)
17g.42543864A>GCA8577107NAGLUc.1858A>G (p.Ser620Gly)
c.1196A>G (n.1196A>G)
c.1027A>G (p.Ser343Gly)
c.859A>G (p.Ser287Gly)
c.1915A>G (p.Ser639Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543864A>TCA399605175NAGLUc.1858A>T (p.Ser620Cys)
c.1196A>T (n.1196A>T)
c.1027A>T (p.Ser343Cys)
c.859A>T (p.Ser287Cys)
c.1915A>T (p.Ser639Cys)
17g.42543865G>ACA399605185NAGLUc.1859G>A (p.Ser620Asn)
c.1197G>A (n.1197G>A)
c.1028G>A (p.Ser343Asn)
c.860G>A (p.Ser287Asn)
c.1916G>A (p.Ser639Asn)
17g.42543865G>CCA399605182NAGLUc.1859G>C (p.Ser620Thr)
c.1197G>C (n.1197G>C)
c.1028G>C (p.Ser343Thr)
c.860G>C (p.Ser287Thr)
c.1916G>C (p.Ser639Thr)
17g.42543865G>TCA399605179NAGLUc.1859G>T (p.Ser620Ile)
c.1197G>T (n.1197G>T)
c.1028G>T (p.Ser343Ile)
c.860G>T (p.Ser287Ile)
c.1916G>T (p.Ser639Ile)
 gnomAD v4
17g.42543866C>ACA399605189NAGLUc.1860C>A (p.Ser620Arg)
c.1198C>A (n.1198C>A)
c.1029C>A (p.Ser343Arg)
c.861C>A (p.Ser287Arg)
c.1917C>A (p.Ser639Arg)
17g.42543866C=CA2260530491NAGLUc.1860C= (p.Ser620=)
c.1198C= (n.1198C=)
c.1029C= (p.Ser343=)
c.861C= (p.Ser287=)
c.1917C= (p.Ser639=)
17g.42543866C>GCA399605188NAGLUc.1860C>G (p.Ser620Arg)
c.1198C>G (n.1198C>G)
c.1029C>G (p.Ser343Arg)
c.861C>G (p.Ser287Arg)
c.1917C>G (p.Ser639Arg)
 gnomAD v4
17g.42543866C>TCA8577108NAGLUc.1860C>T (p.Ser620=)
c.1198C>T (n.1198C>T)
c.1029C>T (p.Ser343=)
c.861C>T (p.Ser287=)
c.1917C>T (p.Ser639=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543867T>ACA399605199NAGLUc.1861T>A (p.Trp621Arg)
c.1199T>A (n.1199T>A)
c.1030T>A (p.Trp344Arg)
c.862T>A (p.Trp288Arg)
c.1918T>A (p.Trp640Arg)
17g.42543867T>CCA399605202NAGLUc.1861T>C (p.Trp621Arg)
c.1199T>C (n.1199T>C)
c.1030T>C (p.Trp344Arg)
c.862T>C (p.Trp288Arg)
c.1918T>C (p.Trp640Arg)
17g.42543867T>GCA399605204NAGLUc.1861T>G (p.Trp621Gly)
c.1199T>G (n.1199T>G)
c.1030T>G (p.Trp344Gly)
c.862T>G (p.Trp288Gly)
c.1918T>G (p.Trp640Gly)
17g.42543868G>ACA399605208NAGLUc.1862G>A (p.Trp621Ter)
c.1200G>A (n.1200G>A)
c.1031G>A (p.Trp344Ter)
c.863G>A (p.Trp288Ter)
c.1919G>A (p.Trp640Ter)
 gnomAD v4
17g.42543868G>CCA399605210NAGLUc.1862G>C (p.Trp621Ser)
c.1200G>C (n.1200G>C)
c.1031G>C (p.Trp344Ser)
c.863G>C (p.Trp288Ser)
c.1919G>C (p.Trp640Ser)
17g.42543868G>TCA399605213NAGLUc.1862G>T (p.Trp621Leu)
c.1200G>T (n.1200G>T)
c.1031G>T (p.Trp344Leu)
c.863G>T (p.Trp288Leu)
c.1919G>T (p.Trp640Leu)
17g.42543869G>ACA399605222NAGLUc.1863G>A (p.Trp621Ter)
c.1201G>A (n.1201G>A)
c.1032G>A (p.Trp344Ter)
c.864G>A (p.Trp288Ter)
c.1920G>A (p.Trp640Ter)
 ClinVar dbSNP
17g.42543869G>CCA399605218NAGLUc.1863G>C (p.Trp621Cys)
c.1201G>C (n.1201G>C)
c.1032G>C (p.Trp344Cys)
c.864G>C (p.Trp288Cys)
c.1920G>C (p.Trp640Cys)
17g.42543869G=CA2260530492NAGLUc.1863G= (p.Trp621=)
c.1201G= (n.1201G=)
c.1032G= (p.Trp344=)
c.864G= (p.Trp288=)
c.1920G= (p.Trp640=)
17g.42543869G>TCA399605220NAGLUc.1863G>T (p.Trp621Cys)
c.1201G>T (n.1201G>T)
c.1032G>T (p.Trp344Cys)
c.864G>T (p.Trp288Cys)
c.1920G>T (p.Trp640Cys)
 gnomAD v4
17g.42543870C>ACA399605226NAGLUc.1864C>A (p.Leu622Ile)
c.1202C>A (n.1202C>A)
c.1033C>A (p.Leu345Ile)
c.865C>A (p.Leu289Ile)
c.1921C>A (p.Leu641Ile)
 gnomAD v4
17g.42543870C>GCA399605227NAGLUc.1864C>G (p.Leu622Val)
c.1202C>G (n.1202C>G)
c.1033C>G (p.Leu345Val)
c.865C>G (p.Leu289Val)
c.1921C>G (p.Leu641Val)
 ClinVar gnomAD v4 COSMIC
17g.42543870C>TCA500218109NAGLUc.1864C>T (p.Leu622=)
c.1202C>T (n.1202C>T)
c.1033C>T (p.Leu345=)
c.865C>T (p.Leu289=)
c.1921C>T (p.Leu641=)
17g.42543871T>ACA399605231NAGLUc.1865T>A (p.Leu622Gln)
c.1203T>A (n.1203T>A)
c.1034T>A (p.Leu345Gln)
c.866T>A (p.Leu289Gln)
c.1922T>A (p.Leu641Gln)
17g.42543871T>CCA399605233NAGLUc.1865T>C (p.Leu622Pro)
c.1203T>C (n.1203T>C)
c.1034T>C (p.Leu345Pro)
c.866T>C (p.Leu289Pro)
c.1922T>C (p.Leu641Pro)
 gnomAD v4
17g.42543871T>GCA399605235NAGLUc.1865T>G (p.Leu622Arg)
c.1203T>G (n.1203T>G)
c.1034T>G (p.Leu345Arg)
c.866T>G (p.Leu289Arg)
c.1922T>G (p.Leu641Arg)
17g.42543872A>CCA500218142NAGLUc.1866A>C (p.Leu622=)
c.1204A>C (n.1204A>C)
c.1035A>C (p.Leu345=)
c.867A>C (p.Leu289=)
c.1923A>C (p.Leu641=)
17g.42543872A>GCA500218147NAGLUc.1866A>G (p.Leu622=)
c.1204A>G (n.1204A>G)
c.1035A>G (p.Leu345=)
c.867A>G (p.Leu289=)
c.1923A>G (p.Leu641=)
 gnomAD v4
17g.42543872A>TCA500218145NAGLUc.1866A>T (p.Leu622=)
c.1204A>T (n.1204A>T)
c.1035A>T (p.Leu345=)
c.867A>T (p.Leu289=)
c.1923A>T (p.Leu641=)
17g.42543874_42543875dupCA645588249NAGLUc.1868_1869dup (p.Gln624SerfsTer24)
c.1206_1207dup (n.1206_1207dup)
c.1037_1038dup (p.Gln347SerfsTer24)
c.869_870dup (p.Gln291SerfsTer24)
c.1925_1926dup (p.Gln643SerfsTer24)
 COSMIC
17g.42543873G>ACA399605240NAGLUc.1867G>A (p.Glu623Lys)
c.1205G>A (n.1205G>A)
c.1036G>A (p.Glu346Lys)
c.868G>A (p.Glu290Lys)
c.1924G>A (p.Glu642Lys)
17g.42543873G>CCA399605247NAGLUc.1867G>C (p.Glu623Gln)
c.1205G>C (n.1205G>C)
c.1036G>C (p.Glu346Gln)
c.868G>C (p.Glu290Gln)
c.1924G>C (p.Glu642Gln)
17g.42543873G>TCA399605244NAGLUc.1867G>T (p.Glu623Ter)
c.1205G>T (n.1205G>T)
c.1036G>T (p.Glu346Ter)
c.868G>T (p.Glu290Ter)
c.1924G>T (p.Glu642Ter)
 gnomAD v4
17g.42543874A>CCA399605250NAGLUc.1868A>C (p.Glu623Ala)
c.1206A>C (n.1206A>C)
c.1037A>C (p.Glu346Ala)
c.869A>C (p.Glu290Ala)
c.1925A>C (p.Glu642Ala)
17g.42543874A>GCA399605252NAGLUc.1868A>G (p.Glu623Gly)
c.1206A>G (n.1206A>G)
c.1037A>G (p.Glu346Gly)
c.869A>G (p.Glu290Gly)
c.1925A>G (p.Glu642Gly)
 gnomAD v4
17g.42543874A>TCA399605255NAGLUc.1868A>T (p.Glu623Val)
c.1206A>T (n.1206A>T)
c.1037A>T (p.Glu346Val)
c.869A>T (p.Glu290Val)
c.1925A>T (p.Glu642Val)
17g.42543875G>ACA500218184NAGLUc.1869G>A (p.Glu623=)
c.1207G>A (n.1207G>A)
c.1038G>A (p.Glu346=)
c.870G>A (p.Glu290=)
c.1926G>A (p.Glu642=)
 ClinVar gnomAD v4
17g.42543875G>CCA399605258NAGLUc.1869G>C (p.Glu623Asp)
c.1207G>C (n.1207G>C)
c.1038G>C (p.Glu346Asp)
c.870G>C (p.Glu290Asp)
c.1926G>C (p.Glu642Asp)
17g.42543875G>TCA399605261NAGLUc.1869G>T (p.Glu623Asp)
c.1207G>T (n.1207G>T)
c.1038G>T (p.Glu346Asp)
c.870G>T (p.Glu290Asp)
c.1926G>T (p.Glu642Asp)
 gnomAD v4
17g.42543876C>ACA399605266NAGLUc.1870C>A (p.Gln624Lys)
c.1208C>A (n.1208C>A)
c.1039C>A (p.Gln347Lys)
c.871C>A (p.Gln291Lys)
c.1927C>A (p.Gln643Lys)
 gnomAD v4
17g.42543876C>GCA399605269NAGLUc.1870C>G (p.Gln624Glu)
c.1208C>G (n.1208C>G)
c.1039C>G (p.Gln347Glu)
c.871C>G (p.Gln291Glu)
c.1927C>G (p.Gln643Glu)
17g.42543876C>TCA399605272NAGLUc.1870C>T (p.Gln624Ter)
c.1208C>T (n.1208C>T)
c.1039C>T (p.Gln347Ter)
c.871C>T (p.Gln291Ter)
c.1927C>T (p.Gln643Ter)
 gnomAD v4
17g.42543877A>CCA399605276NAGLUc.1871A>C (p.Gln624Pro)
c.1209A>C (n.1209A>C)
c.1040A>C (p.Gln347Pro)
c.872A>C (p.Gln291Pro)
c.1928A>C (p.Gln643Pro)
17g.42543877A>GCA399605279NAGLUc.1871A>G (p.Gln624Arg)
c.1209A>G (n.1209A>G)
c.1040A>G (p.Gln347Arg)
c.872A>G (p.Gln291Arg)
c.1928A>G (p.Gln643Arg)
17g.42543877A>TCA399605282NAGLUc.1871A>T (p.Gln624Leu)
c.1209A>T (n.1209A>T)
c.1040A>T (p.Gln347Leu)
c.872A>T (p.Gln291Leu)
c.1928A>T (p.Gln643Leu)
 gnomAD v4
17g.42543878G>ACA500218233NAGLUc.1872G>A (p.Gln624=)
c.1210G>A (n.1210G>A)
c.1041G>A (p.Gln347=)
c.873G>A (p.Gln291=)
c.1929G>A (p.Gln643=)
 dbSNP gnomAD v3 gnomAD v4
17g.42543878G>CCA399605288NAGLUc.1872G>C (p.Gln624His)
c.1210G>C (n.1210G>C)
c.1041G>C (p.Gln347His)
c.873G>C (p.Gln291His)
c.1929G>C (p.Gln643His)
17g.42543878G=CA2260530493NAGLUc.1872G= (p.Gln624=)
c.1210G= (n.1210G=)
c.1041G= (p.Gln347=)
c.873G= (p.Gln291=)
c.1929G= (p.Gln643=)
17g.42543878G>TCA399605286NAGLUc.1872G>T (p.Gln624His)
c.1210G>T (n.1210G>T)
c.1041G>T (p.Gln347His)
c.873G>T (p.Gln291His)
c.1929G>T (p.Gln643His)
17g.42543879G>ACA399605293NAGLUc.1873G>A (p.Ala625Thr)
c.1211G>A (n.1211G>A)
c.1042G>A (p.Ala348Thr)
c.874G>A (p.Ala292Thr)
c.1930G>A (p.Ala644Thr)
 dbSNP gnomAD v2 gnomAD v4
17g.42543879G>CCA399605296NAGLUc.1873G>C (p.Ala625Pro)
c.1211G>C (n.1211G>C)
c.1042G>C (p.Ala348Pro)
c.874G>C (p.Ala292Pro)
c.1930G>C (p.Ala644Pro)
 gnomAD v4
17g.42543879G=CA2260530494NAGLUc.1873G= (p.Ala625=)
c.1211G= (n.1211G=)
c.1042G= (p.Ala348=)
c.874G= (p.Ala292=)
c.1930G= (p.Ala644=)
17g.42543879G>TCA399605300NAGLUc.1873G>T (p.Ala625Ser)
c.1211G>T (n.1211G>T)
c.1042G>T (p.Ala348Ser)
c.874G>T (p.Ala292Ser)
c.1930G>T (p.Ala644Ser)
17g.42543880C>ACA399605304NAGLUc.1874C>A (p.Ala625Asp)
c.1212C>A (n.1212C>A)
c.1043C>A (p.Ala348Asp)
c.875C>A (p.Ala292Asp)
c.1931C>A (p.Ala644Asp)
 gnomAD v4
17g.42543880C>GCA399605307NAGLUc.1874C>G (p.Ala625Gly)
c.1212C>G (n.1212C>G)
c.1043C>G (p.Ala348Gly)
c.875C>G (p.Ala292Gly)
c.1931C>G (p.Ala644Gly)
17g.42543880C>TCA399605309NAGLUc.1874C>T (p.Ala625Val)
c.1212C>T (n.1212C>T)
c.1043C>T (p.Ala348Val)
c.875C>T (p.Ala292Val)
c.1931C>T (p.Ala644Val)
 gnomAD v4
17g.42543881C>ACA500218272NAGLUc.1875C>A (p.Ala625=)
c.1213C>A (n.1213C>A)
c.1044C>A (p.Ala348=)
c.876C>A (p.Ala292=)
c.1932C>A (p.Ala644=)
17g.42543881C>GCA500218271NAGLUc.1875C>G (p.Ala625=)
c.1213C>G (n.1213C>G)
c.1044C>G (p.Ala348=)
c.876C>G (p.Ala292=)
c.1932C>G (p.Ala644=)
17g.42543881C>TCA500218273NAGLUc.1875C>T (p.Ala625=)
c.1213C>T (n.1213C>T)
c.1044C>T (p.Ala348=)
c.876C>T (p.Ala292=)
c.1932C>T (p.Ala644=)
17g.42543882C>ACA500218278NAGLUc.1876C>A (p.Arg626=)
c.1214C>A (n.1214C>A)
c.1045C>A (p.Arg349=)
c.877C>A (p.Arg293=)
c.1933C>A (p.Arg645=)
 gnomAD v4
17g.42543882C=CA2260530495NAGLUc.1876C= (p.Arg626=)
c.1214C= (n.1214C=)
c.1045C= (p.Arg349=)
c.877C= (p.Arg293=)
c.1933C= (p.Arg645=)
17g.42543882C>GCA8577109NAGLUc.1876C>G (p.Arg626Gly)
c.1214C>G (n.1214C>G)
c.1045C>G (p.Arg349Gly)
c.877C>G (p.Arg293Gly)
c.1933C>G (p.Arg645Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543882C>TCA115043NAGLUc.1876C>T (p.Arg626Ter)
c.1214C>T (n.1214C>T)
c.1045C>T (p.Arg349Ter)
c.877C>T (p.Arg293Ter)
c.1933C>T (p.Arg645Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543883G>ACA8577110NAGLUc.1877G>A (p.Arg626Gln)
c.1215G>A (n.1215G>A)
c.1046G>A (p.Arg349Gln)
c.878G>A (p.Arg293Gln)
c.1934G>A (p.Arg645Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543883G>CCA399605319NAGLUc.1877G>C (p.Arg626Pro)
c.1215G>C (n.1215G>C)
c.1046G>C (p.Arg349Pro)
c.878G>C (p.Arg293Pro)
c.1934G>C (p.Arg645Pro)
17g.42543883G=CA2260530496NAGLUc.1877G= (p.Arg626=)
c.1215G= (n.1215G=)
c.1046G= (p.Arg349=)
c.878G= (p.Arg293=)
c.1934G= (p.Arg645=)
17g.42543883G>TCA399605322NAGLUc.1877G>T (p.Arg626Leu)
c.1215G>T (n.1215G>T)
c.1046G>T (p.Arg349Leu)
c.878G>T (p.Arg293Leu)
c.1934G>T (p.Arg645Leu)
 dbSNP gnomAD v4
17g.42543884A=CA2260530497NAGLUc.1878A= (p.Arg626=)
c.1216A= (n.1216A=)
c.1047A= (p.Arg349=)
c.879A= (p.Arg293=)
c.1935A= (p.Arg645=)
17g.42543884A>CCA500218291NAGLUc.1878A>C (p.Arg626=)
c.1216A>C (n.1216A>C)
c.1047A>C (p.Arg349=)
c.879A>C (p.Arg293=)
c.1935A>C (p.Arg645=)
17g.42543884A>GCA500218296NAGLUc.1878A>G (p.Arg626=)
c.1216A>G (n.1216A>G)
c.1047A>G (p.Arg349=)
c.879A>G (p.Arg293=)
c.1935A>G (p.Arg645=)
 dbSNP gnomAD v2
17g.42543884A>TCA500218294NAGLUc.1878A>T (p.Arg626=)
c.1216A>T (n.1216A>T)
c.1047A>T (p.Arg349=)
c.879A>T (p.Arg293=)
c.1935A>T (p.Arg645=)
17g.42543885G>ACA399605325NAGLUc.1879G>A (p.Ala627Thr)
c.1217G>A (n.1217G>A)
c.1048G>A (p.Ala350Thr)
c.880G>A (p.Ala294Thr)
c.1936G>A (p.Ala646Thr)
 ClinVar
17g.42543885G>CCA399605327NAGLUc.1879G>C (p.Ala627Pro)
c.1217G>C (n.1217G>C)
c.1048G>C (p.Ala350Pro)
c.880G>C (p.Ala294Pro)
c.1936G>C (p.Ala646Pro)
17g.42543885G>TCA399605330NAGLUc.1879G>T (p.Ala627Ser)
c.1217G>T (n.1217G>T)
c.1048G>T (p.Ala350Ser)
c.880G>T (p.Ala294Ser)
c.1936G>T (p.Ala646Ser)
17g.42543886C>ACA399605337NAGLUc.1880C>A (p.Ala627Glu)
c.1218C>A (n.1218C>A)
c.1049C>A (p.Ala350Glu)
c.881C>A (p.Ala294Glu)
c.1937C>A (p.Ala646Glu)
17g.42543886C=CA2260530498NAGLUc.1880C= (p.Ala627=)
c.1218C= (n.1218C=)
c.1049C= (p.Ala350=)
c.881C= (p.Ala294=)
c.1937C= (p.Ala646=)
17g.42543886C>GCA399605333NAGLUc.1880C>G (p.Ala627Gly)
c.1218C>G (n.1218C>G)
c.1049C>G (p.Ala350Gly)
c.881C>G (p.Ala294Gly)
c.1937C>G (p.Ala646Gly)
17g.42543886C>TCA8577111NAGLUc.1880C>T (p.Ala627Val)
c.1218C>T (n.1218C>T)
c.1049C>T (p.Ala350Val)
c.881C>T (p.Ala294Val)
c.1937C>T (p.Ala646Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543887A>CCA500218307NAGLUc.1881A>C (p.Ala627=)
c.1219A>C (n.1219A>C)
c.1050A>C (p.Ala350=)
c.882A>C (p.Ala294=)
c.1938A>C (p.Ala646=)
17g.42543887A>GCA500218308NAGLUc.1881A>G (p.Ala627=)
c.1219A>G (n.1219A>G)
c.1050A>G (p.Ala350=)
c.882A>G (p.Ala294=)
c.1938A>G (p.Ala646=)
 ClinVar dbSNP gnomAD v4
17g.42543887A>TCA500218309NAGLUc.1881A>T (p.Ala627=)
c.1219A>T (n.1219A>T)
c.1050A>T (p.Ala350=)
c.882A>T (p.Ala294=)
c.1938A>T (p.Ala646=)
17g.42543888G>ACA399605340NAGLUc.1882G>A (p.Ala628Thr)
c.1220G>A (n.1220G>A)
c.1051G>A (p.Ala351Thr)
c.883G>A (p.Ala295Thr)
c.1939G>A (p.Ala647Thr)
17g.42543888G>CCA399605342NAGLUc.1882G>C (p.Ala628Pro)
c.1220G>C (n.1220G>C)
c.1051G>C (p.Ala351Pro)
c.883G>C (p.Ala295Pro)
c.1939G>C (p.Ala647Pro)
17g.42543888G>TCA399605344NAGLUc.1882G>T (p.Ala628Ser)
c.1220G>T (n.1220G>T)
c.1051G>T (p.Ala351Ser)
c.883G>T (p.Ala295Ser)
c.1939G>T (p.Ala647Ser)
 gnomAD v4
17g.42543889C>ACA399605348NAGLUc.1883C>A (p.Ala628Glu)
c.1221C>A (n.1221C>A)
c.1052C>A (p.Ala351Glu)
c.884C>A (p.Ala295Glu)
c.1940C>A (p.Ala647Glu)
 gnomAD v4
17g.42543889C=CA2260530499NAGLUc.1883C= (p.Ala628=)
c.1221C= (n.1221C=)
c.1052C= (p.Ala351=)
c.884C= (p.Ala295=)
c.1940C= (p.Ala647=)
17g.42543889C>GCA399605351NAGLUc.1883C>G (p.Ala628Gly)
c.1221C>G (n.1221C>G)
c.1052C>G (p.Ala351Gly)
c.884C>G (p.Ala295Gly)
c.1940C>G (p.Ala647Gly)
17g.42543889C>TCA8577112NAGLUc.1883C>T (p.Ala628Val)
c.1221C>T (n.1221C>T)
c.1052C>T (p.Ala351Val)
c.884C>T (p.Ala295Val)
c.1940C>T (p.Ala647Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543890G>ACA8577113NAGLUc.1884G>A (p.Ala628=)
c.1222G>A (n.1222G>A)
c.1053G>A (p.Ala351=)
c.885G>A (p.Ala295=)
c.1941G>A (p.Ala647=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543890G>CCA500218321NAGLUc.1884G>C (p.Ala628=)
c.1222G>C (n.1222G>C)
c.1053G>C (p.Ala351=)
c.885G>C (p.Ala295=)
c.1941G>C (p.Ala647=)
17g.42543890G=CA2260530500NAGLUc.1884G= (p.Ala628=)
c.1222G= (n.1222G=)
c.1053G= (p.Ala351=)
c.885G= (p.Ala295=)
c.1941G= (p.Ala647=)
17g.42543890G>TCA500218319NAGLUc.1884G>T (p.Ala628=)
c.1222G>T (n.1222G>T)
c.1053G>T (p.Ala351=)
c.885G>T (p.Ala295=)
c.1941G>T (p.Ala647=)
 gnomAD v4
17g.42543891G>ACA399605358NAGLUc.1885G>A (p.Ala629Thr)
c.1223G>A (n.1223G>A)
c.1054G>A (p.Ala352Thr)
c.886G>A (p.Ala296Thr)
c.1942G>A (p.Ala648Thr)
 gnomAD v4
17g.42543891G>CCA399605361NAGLUc.1885G>C (p.Ala629Pro)
c.1223G>C (n.1223G>C)
c.1054G>C (p.Ala352Pro)
c.886G>C (p.Ala296Pro)
c.1942G>C (p.Ala648Pro)
17g.42543891G>TCA399605364NAGLUc.1885G>T (p.Ala629Ser)
c.1223G>T (n.1223G>T)
c.1054G>T (p.Ala352Ser)
c.886G>T (p.Ala296Ser)
c.1942G>T (p.Ala648Ser)
17g.42543892C>ACA399605367NAGLUc.1886C>A (p.Ala629Glu)
c.1224C>A (n.1224C>A)
c.1055C>A (p.Ala352Glu)
c.887C>A (p.Ala296Glu)
c.1943C>A (p.Ala648Glu)
 gnomAD v4
17g.42543892C=CA2260530501NAGLUc.1886C= (p.Ala629=)
c.1224C= (n.1224C=)
c.1055C= (p.Ala352=)
c.887C= (p.Ala296=)
c.1943C= (p.Ala648=)
17g.42543892C>GCA399605370NAGLUc.1886C>G (p.Ala629Gly)
c.1224C>G (n.1224C>G)
c.1055C>G (p.Ala352Gly)
c.887C>G (p.Ala296Gly)
c.1943C>G (p.Ala648Gly)
17g.42543892C>TCA399605373NAGLUc.1886C>T (p.Ala629Val)
c.1224C>T (n.1224C>T)
c.1055C>T (p.Ala352Val)
c.887C>T (p.Ala296Val)
c.1943C>T (p.Ala648Val)
 dbSNP gnomAD v2 gnomAD v4
17g.42543893A>CCA500218337NAGLUc.1887A>C (p.Ala629=)
c.1225A>C (n.1225A>C)
c.1056A>C (p.Ala352=)
c.888A>C (p.Ala296=)
c.1944A>C (p.Ala648=)
17g.42543893A>GCA500218349NAGLUc.1887A>G (p.Ala629=)
c.1225A>G (n.1225A>G)
c.1056A>G (p.Ala352=)
c.888A>G (p.Ala296=)
c.1944A>G (p.Ala648=)
17g.42543893A>TCA500218352NAGLUc.1887A>T (p.Ala629=)
c.1225A>T (n.1225A>T)
c.1056A>T (p.Ala352=)
c.888A>T (p.Ala296=)
c.1944A>T (p.Ala648=)
17g.42543894G>ACA8577114NAGLUc.1888G>A (p.Val630Ile)
c.1226G>A (n.1226G>A)
c.1057G>A (p.Val353Ile)
c.889G>A (p.Val297Ile)
c.1945G>A (p.Val649Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543894G>CCA399605381NAGLUc.1888G>C (p.Val630Leu)
c.1226G>C (n.1226G>C)
c.1057G>C (p.Val353Leu)
c.889G>C (p.Val297Leu)
c.1945G>C (p.Val649Leu)
 gnomAD v4
17g.42543894G=CA2260530502NAGLUc.1888G= (p.Val630=)
c.1226G= (n.1226G=)
c.1057G= (p.Val353=)
c.889G= (p.Val297=)
c.1945G= (p.Val649=)
17g.42543894G>TCA399605379NAGLUc.1888G>T (p.Val630Phe)
c.1226G>T (n.1226G>T)
c.1057G>T (p.Val353Phe)
c.889G>T (p.Val297Phe)
c.1945G>T (p.Val649Phe)
 ClinVar dbSNP
17g.42543895T>ACA399605383NAGLUc.1889T>A (p.Val630Asp)
c.1227T>A (n.1227T>A)
c.1058T>A (p.Val353Asp)
c.890T>A (p.Val297Asp)
c.1946T>A (p.Val649Asp)
17g.42543895T>CCA399605386NAGLUc.1889T>C (p.Val630Ala)
c.1227T>C (n.1227T>C)
c.1058T>C (p.Val353Ala)
c.890T>C (p.Val297Ala)
c.1946T>C (p.Val649Ala)
17g.42543895T>GCA8577115NAGLUc.1889T>G (p.Val630Gly)
c.1227T>G (n.1227T>G)
c.1058T>G (p.Val353Gly)
c.890T>G (p.Val297Gly)
c.1946T>G (p.Val649Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543895T=CA2260530503NAGLUc.1889T= (p.Val630=)
c.1227T= (n.1227T=)
c.1058T= (p.Val353=)
c.890T= (p.Val297=)
c.1946T= (p.Val649=)
17g.42543896C>ACA500218366NAGLUc.1890C>A (p.Val630=)
c.1228C>A (n.1228C>A)
c.1059C>A (p.Val353=)
c.891C>A (p.Val297=)
c.1947C>A (p.Val649=)
17g.42543896C=CA2260530505NAGLUc.1890C= (p.Val630=)
c.1228C= (n.1228C=)
c.1059C= (p.Val353=)
c.891C= (p.Val297=)
c.1947C= (p.Val649=)
17g.42543896C>GCA500218369NAGLUc.1890C>G (p.Val630=)
c.1228C>G (n.1228C>G)
c.1059C>G (p.Val353=)
c.891C>G (p.Val297=)
c.1947C>G (p.Val649=)
 ClinVar dbSNP gnomAD v4
17g.42543896C>TCA500218370NAGLUc.1890C>T (p.Val630=)
c.1228C>T (n.1228C>T)
c.1059C>T (p.Val353=)
c.891C>T (p.Val297=)
c.1947C>T (p.Val649=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42543896_42543900delinsCAGTGCA2260530504NAGLUc.1890_1894delinsCAGTG (p.Val630=)
c.1228_1232delinsCAGTG (n.1228_1232delinsCAGTG)
c.1059_1063delinsCAGTG (p.Val353=)
c.891_895delinsCAGTG (p.Val297=)
c.1947_1951delinsCAGTG (p.Val649=)
17g.42543897A=CA2260530506NAGLUc.1891A= (p.Ser631=)
c.1229A= (n.1229A=)
c.1060A= (p.Ser354=)
c.892A= (p.Ser298=)
c.1948A= (p.Ser650=)
17g.42543897A>CCA399605388NAGLUc.1891A>C (p.Ser631Arg)
c.1229A>C (n.1229A>C)
c.1060A>C (p.Ser354Arg)
c.892A>C (p.Ser298Arg)
c.1948A>C (p.Ser650Arg)
17g.42543897A>GCA399605389NAGLUc.1891A>G (p.Ser631Gly)
c.1229A>G (n.1229A>G)
c.1060A>G (p.Ser354Gly)
c.892A>G (p.Ser298Gly)
c.1948A>G (p.Ser650Gly)
 dbSNP gnomAD v2
17g.42543897A>TCA399605391NAGLUc.1891A>T (p.Ser631Cys)
c.1229A>T (n.1229A>T)
c.1060A>T (p.Ser354Cys)
c.892A>T (p.Ser298Cys)
c.1948A>T (p.Ser650Cys)
 dbSNP
17g.42543899_42543902delCA626218633NAGLUc.1893_1896del (p.Ser631ArgfsTer15)
c.1231_1234del (n.1231_1234del)
c.1062_1065del (p.Ser354ArgfsTer15)
c.894_897del (p.Ser298ArgfsTer15)
c.1950_1953del (p.Ser650ArgfsTer15)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42543897_42543908delCA913012294NAGLUc.1891_1902del (p.Ser631_Glu634del)
c.1229_1240del (n.1229_1240del)
c.1060_1071del (p.Ser354_Glu357del)
c.892_903del (p.Ser298_Glu301del)
c.1948_1959del (p.Ser650_Glu653del)
17g.42543897_42543908delinsAGTGAGGCCGAGCA2260530507NAGLUc.1891_1902delinsAGTGAGGCCGAG (p.Ser631=)
c.1229_1240delinsAGTGAGGCCGAG (n.1229_1240delinsAGTGAGGCCGAG)
c.1060_1071delinsAGTGAGGCCGAG (p.Ser354=)
c.892_903delinsAGTGAGGCCGAG (p.Ser298=)
c.1948_1959delinsAGTGAGGCCGAG (p.Ser650=)
17g.42543898G>ACA399605393NAGLUc.1892G>A (p.Ser631Asn)
c.1230G>A (n.1230G>A)
c.1061G>A (p.Ser354Asn)
c.893G>A (p.Ser298Asn)
c.1949G>A (p.Ser650Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42543898G>CCA399605395NAGLUc.1892G>C (p.Ser631Thr)
c.1230G>C (n.1230G>C)
c.1061G>C (p.Ser354Thr)
c.893G>C (p.Ser298Thr)
c.1949G>C (p.Ser650Thr)
17g.42543898G=CA2260530508NAGLUc.1892G= (p.Ser631=)
c.1230G= (n.1230G=)
c.1061G= (p.Ser354=)
c.893G= (p.Ser298=)
c.1949G= (p.Ser650=)
17g.42543898G>TCA399605396NAGLUc.1892G>T (p.Ser631Ile)
c.1230G>T (n.1230G>T)
c.1061G>T (p.Ser354Ile)
c.893G>T (p.Ser298Ile)
c.1949G>T (p.Ser650Ile)
 ClinVar dbSNP gnomAD v4
17g.42543899_42543909delCA658823965NAGLUc.1893_1903del (p.Glu632ArgfsTer?)
c.1231_1241del (n.1231_1241del)
c.1062_1072del (p.Glu355ArgfsTer?)
c.894_904del (p.Glu299ArgfsTer?)
c.1950_1960del (p.Glu651ArgfsTer?)
 ClinVar dbSNP
17g.42543899T>ACA399605397NAGLUc.1893T>A (p.Ser631Arg)
c.1231T>A (n.1231T>A)
c.1062T>A (p.Ser354Arg)
c.894T>A (p.Ser298Arg)
c.1950T>A (p.Ser650Arg)
17g.42543899T>CCA500218375NAGLUc.1893T>C (p.Ser631=)
c.1231T>C (n.1231T>C)
c.1062T>C (p.Ser354=)
c.894T>C (p.Ser298=)
c.1950T>C (p.Ser650=)
17g.42543899T>GCA399605399NAGLUc.1893T>G (p.Ser631Arg)
c.1231T>G (n.1231T>G)
c.1062T>G (p.Ser354Arg)
c.894T>G (p.Ser298Arg)
c.1950T>G (p.Ser650Arg)
17g.42543900G>ACA399605401NAGLUc.1894G>A (p.Glu632Lys)
c.1232G>A (n.1232G>A)
c.1063G>A (p.Glu355Lys)
c.895G>A (p.Glu299Lys)
c.1951G>A (p.Glu651Lys)
 gnomAD v4
17g.42543900G>CCA399605402NAGLUc.1894G>C (p.Glu632Gln)
c.1232G>C (n.1232G>C)
c.1063G>C (p.Glu355Gln)
c.895G>C (p.Glu299Gln)
c.1951G>C (p.Glu651Gln)
17g.42543900G>TCA399605405NAGLUc.1894G>T (p.Glu632Ter)
c.1232G>T (n.1232G>T)
c.1063G>T (p.Glu355Ter)
c.895G>T (p.Glu299Ter)
c.1951G>T (p.Glu651Ter)
17g.42543908_42543913dupCA2637971728NAGLUc.1902_1907dup (p.Ala635_Asp636insGluAla)
c.1240_1245dup (n.1240_1245dup)
c.1071_1076dup (p.Ala358_Asp359insGluAla)
c.903_908dup (p.Ala302_Asp303insGluAla)
c.1959_1964dup (p.Ala654_Asp655insGluAla)
 gnomAD v4
17g.42543901A>CCA399605411NAGLUc.1895A>C (p.Glu632Ala)
c.1233A>C (n.1233A>C)
c.1064A>C (p.Glu355Ala)
c.896A>C (p.Glu299Ala)
c.1952A>C (p.Glu651Ala)
17g.42543901A>GCA399605409NAGLUc.1895A>G (p.Glu632Gly)
c.1233A>G (n.1233A>G)
c.1064A>G (p.Glu355Gly)
c.896A>G (p.Glu299Gly)
c.1952A>G (p.Glu651Gly)
 gnomAD v4
17g.42543901A>TCA399605407NAGLUc.1895A>T (p.Glu632Val)
c.1233A>T (n.1233A>T)
c.1064A>T (p.Glu355Val)
c.896A>T (p.Glu299Val)
c.1952A>T (p.Glu651Val)
17g.42543902G>ACA500218392NAGLUc.1896G>A (p.Glu632=)
c.1234G>A (n.1234G>A)
c.1065G>A (p.Glu355=)
c.897G>A (p.Glu299=)
c.1953G>A (p.Glu651=)
 ClinVar dbSNP
17g.42543902G>CCA399605412NAGLUc.1896G>C (p.Glu632Asp)
c.1234G>C (n.1234G>C)
c.1065G>C (p.Glu355Asp)
c.897G>C (p.Glu299Asp)
c.1953G>C (p.Glu651Asp)
 gnomAD v4
17g.42543902G>TCA399605414NAGLUc.1896G>T (p.Glu632Asp)
c.1234G>T (n.1234G>T)
c.1065G>T (p.Glu355Asp)
c.897G>T (p.Glu299Asp)
c.1953G>T (p.Glu651Asp)
 gnomAD v4
17g.42543903G>ACA399605416NAGLUc.1897G>A (p.Ala633Thr)
c.1235G>A (n.1235G>A)
c.1066G>A (p.Ala356Thr)
c.898G>A (p.Ala300Thr)
c.1954G>A (p.Ala652Thr)
 dbSNP gnomAD v4
17g.42543903G>CCA399605417NAGLUc.1897G>C (p.Ala633Pro)
c.1235G>C (n.1235G>C)
c.1066G>C (p.Ala356Pro)
c.898G>C (p.Ala300Pro)
c.1954G>C (p.Ala652Pro)
17g.42543903G=CA2260530509NAGLUc.1897G= (p.Ala633=)
c.1235G= (n.1235G=)
c.1066G= (p.Ala356=)
c.898G= (p.Ala300=)
c.1954G= (p.Ala652=)
17g.42543903G>TCA399605418NAGLUc.1897G>T (p.Ala633Ser)
c.1235G>T (n.1235G>T)
c.1066G>T (p.Ala356Ser)
c.898G>T (p.Ala300Ser)
c.1954G>T (p.Ala652Ser)
 dbSNP
17g.42543904C>ACA290781121NAGLUc.1898C>A (p.Ala633Asp)
c.1236C>A (n.1236C>A)
c.1067C>A (p.Ala356Asp)
c.899C>A (p.Ala300Asp)
c.1955C>A (p.Ala652Asp)
 dbSNP gnomAD v4
17g.42543904C=CA2260530510NAGLUc.1898C= (p.Ala633=)
c.1236C= (n.1236C=)
c.1067C= (p.Ala356=)
c.899C= (p.Ala300=)
c.1955C= (p.Ala652=)
17g.42543904C>GCA8577116NAGLUc.1898C>G (p.Ala633Gly)
c.1236C>G (n.1236C>G)
c.1067C>G (p.Ala356Gly)
c.899C>G (p.Ala300Gly)
c.1955C>G (p.Ala652Gly)
 dbSNP ExAC
17g.42543904C>TCA399605419NAGLUc.1898C>T (p.Ala633Val)
c.1236C>T (n.1236C>T)
c.1067C>T (p.Ala356Val)
c.899C>T (p.Ala300Val)
c.1955C>T (p.Ala652Val)
 dbSNP gnomAD v2
17g.42543905C>ACA500218410NAGLUc.1899C>A (p.Ala633=)
c.1237C>A (n.1237C>A)
c.1068C>A (p.Ala356=)
c.900C>A (p.Ala300=)
c.1956C>A (p.Ala652=)
 gnomAD v4
17g.42543905C=CA2260530511NAGLUc.1899C= (p.Ala633=)
c.1237C= (n.1237C=)
c.1068C= (p.Ala356=)
c.900C= (p.Ala300=)
c.1956C= (p.Ala652=)
17g.42543905C>GCA500218406NAGLUc.1899C>G (p.Ala633=)
c.1237C>G (n.1237C>G)
c.1068C>G (p.Ala356=)
c.900C>G (p.Ala300=)
c.1956C>G (p.Ala652=)
17g.42543905C>TCA8577117NAGLUc.1899C>T (p.Ala633=)
c.1237C>T (n.1237C>T)
c.1068C>T (p.Ala356=)
c.900C>T (p.Ala300=)
c.1956C>T (p.Ala652=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543906G>ACA290781124NAGLUc.1900G>A (p.Glu634Lys)
c.1238G>A (n.1238G>A)
c.1069G>A (p.Glu357Lys)
c.901G>A (p.Glu301Lys)
c.1957G>A (p.Glu653Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42543906G>CCA399605420NAGLUc.1900G>C (p.Glu634Gln)
c.1238G>C (n.1238G>C)
c.1069G>C (p.Glu357Gln)
c.901G>C (p.Glu301Gln)
c.1957G>C (p.Glu653Gln)
17g.42543906G=CA2260530512NAGLUc.1900G= (p.Glu634=)
c.1238G= (n.1238G=)
c.1069G= (p.Glu357=)
c.901G= (p.Glu301=)
c.1957G= (p.Glu653=)
17g.42543906G>TCA399605421NAGLUc.1900G>T (p.Glu634Ter)
c.1238G>T (n.1238G>T)
c.1069G>T (p.Glu357Ter)
c.901G>T (p.Glu301Ter)
c.1957G>T (p.Glu653Ter)
17g.42543907A>CCA399605424NAGLUc.1901A>C (p.Glu634Ala)
c.1239A>C (n.1239A>C)
c.1070A>C (p.Glu357Ala)
c.902A>C (p.Glu301Ala)
c.1958A>C (p.Glu653Ala)
17g.42543907A>GCA399605423NAGLUc.1901A>G (p.Glu634Gly)
c.1239A>G (n.1239A>G)
c.1070A>G (p.Glu357Gly)
c.902A>G (p.Glu301Gly)
c.1958A>G (p.Glu653Gly)
 gnomAD v4
17g.42543907A>TCA399605422NAGLUc.1901A>T (p.Glu634Val)
c.1239A>T (n.1239A>T)
c.1070A>T (p.Glu357Val)
c.902A>T (p.Glu301Val)
c.1958A>T (p.Glu653Val)
17g.42543908G>ACA500218426NAGLUc.1902G>A (p.Glu634=)
c.1240G>A (n.1240G>A)
c.1071G>A (p.Glu357=)
c.903G>A (p.Glu301=)
c.1959G>A (p.Glu653=)
 dbSNP gnomAD v2 gnomAD v4
17g.42543908G>CCA399605425NAGLUc.1902G>C (p.Glu634Asp)
c.1240G>C (n.1240G>C)
c.1071G>C (p.Glu357Asp)
c.903G>C (p.Glu301Asp)
c.1959G>C (p.Glu653Asp)
17g.42543908G=CA2260530513NAGLUc.1902G= (p.Glu634=)
c.1240G= (n.1240G=)
c.1071G= (p.Glu357=)
c.903G= (p.Glu301=)
c.1959G= (p.Glu653=)
17g.42543908G>TCA399605426NAGLUc.1902G>T (p.Glu634Asp)
c.1240G>T (n.1240G>T)
c.1071G>T (p.Glu357Asp)
c.903G>T (p.Glu301Asp)
c.1959G>T (p.Glu653Asp)

Number of alleles fetched