Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.42543744_42543750dupCA2573054424NAGLUc.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
17g.42543749C>ACA399604704NAGLUc.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
17g.42543749C=CA2260530440NAGLUc.1743C= (p.Ser581=)
c.1081C= (n.1081C=)
c.912C= (p.Ser304=)
c.744C= (p.Ser248=)
c.1800C= (p.Ser600=)
17g.42543749C>GCA399604706NAGLUc.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)
17g.42543749C>TCA500217287NAGLUc.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
17g.42543750G>ACA8577084NAGLUc.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
17g.42543750G>CCA8577085NAGLUc.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
17g.42543750G=CA2260530441NAGLUc.1744G= (p.Ala582=)
c.1082G= (n.1082G=)
c.913G= (p.Ala305=)
c.745G= (p.Ala249=)
c.1801G= (p.Ala601=)
17g.42543750G>TCA399604710NAGLUc.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
17g.42543751C>ACA399604715NAGLUc.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)
17g.42543751C>GCA399604716NAGLUc.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)
17g.42543751C>TCA399604712NAGLUc.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)
17g.42543752C>ACA500217293NAGLUc.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=)
17g.42543752C=CA2260530442NAGLUc.1746C= (p.Ala582=)
c.1084C= (n.1084C=)
c.915C= (p.Ala305=)
c.747C= (p.Ala249=)
c.1803C= (p.Ala601=)
17g.42543752C>GCA500217296NAGLUc.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=)
17g.42543752C>TCA500217295NAGLUc.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
17g.42543753T>ACA399604720NAGLUc.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)
17g.42543753T>CCA399604718NAGLUc.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
17g.42543753T>GCA399604722NAGLUc.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)
17g.42543754A>CCA399604724NAGLUc.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)
17g.42543754A>GCA399604726NAGLUc.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)
17g.42543754A>TCA399604728NAGLUc.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)
17g.42543754_42543755delinsACCA2260530443NAGLUc.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=)
17g.42543755C>ACA399604730NAGLUc.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)
17g.42543755C=CA2260530445NAGLUc.1749C= (p.Tyr583=)
c.1087C= (n.1087C=)
c.918C= (p.Tyr306=)
c.750C= (p.Tyr250=)
c.1806C= (p.Tyr602=)
17g.42543755C>GCA399604732NAGLUc.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)
17g.42543755C>TCA500217301NAGLUc.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
17g.42543756delCA2260530444NAGLUc.1750del (p.Leu584Ter)
c.1088del (n.1088del)
c.919del (p.Leu307Ter)
c.751del (p.Leu251Ter)
c.1807del (p.Leu603Ter)
 dbSNP
17g.42543756C>ACA399604737NAGLUc.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)
17g.42543756C=CA2260530446NAGLUc.1750C= (p.Leu584=)
c.1088C= (n.1088C=)
c.919C= (p.Leu307=)
c.751C= (p.Leu251=)
c.1807C= (p.Leu603=)
17g.42543756C>GCA399604735NAGLUc.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)
17g.42543756C>TCA8577086NAGLUc.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
17g.42543757T>ACA399604739NAGLUc.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)
17g.42543757T>CCA399604741NAGLUc.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)
17g.42543757T>GCA399604743NAGLUc.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)
17g.42543758G>ACA500217308NAGLUc.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=)
17g.42543758G>CCA500217307NAGLUc.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=)
17g.42543758G>TCA500217306NAGLUc.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=)
17g.42543759A>CCA399604745NAGLUc.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)
17g.42543759A>GCA399604747NAGLUc.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)
17g.42543759A>TCA399604749NAGLUc.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)
17g.42543760G>ACA399604750NAGLUc.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
17g.42543760G>CCA399604752NAGLUc.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)
17g.42543760G>TCA399604751NAGLUc.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
17g.42543761C>ACA399604754NAGLUc.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
17g.42543761C>GCA399604756NAGLUc.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)
17g.42543761C>TCA500217312NAGLUc.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=)
17g.42543762A>CCA399604758NAGLUc.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)
17g.42543762A>GCA399604759NAGLUc.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)
17g.42543762A>TCA399604761NAGLUc.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)
17g.42543763A>CCA399604763NAGLUc.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)
17g.42543763A>GCA399604765NAGLUc.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)
17g.42543763A>TCA399604767NAGLUc.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)
17g.42543764G>ACA500217319NAGLUc.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
17g.42543764G>CCA399604769NAGLUc.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)
17g.42543764G=CA2260530447NAGLUc.1758G= (p.Lys586=)
c.1096G= (n.1096G=)
c.927G= (p.Lys309=)
c.759G= (p.Lys253=)
c.1815G= (p.Lys605=)
17g.42543764G>TCA399604771NAGLUc.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)
17g.42543765G>ACA399604777NAGLUc.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
17g.42543765G>CCA399604775NAGLUc.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)
17g.42543765G>TCA399604774NAGLUc.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
17g.42543766A=CA2260530448NAGLUc.1760A= (p.Glu587=)
c.1098A= (n.1098A=)
c.929A= (p.Glu310=)
c.761A= (p.Glu254=)
c.1817A= (p.Glu606=)
17g.42543766A>CCA399604780NAGLUc.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)
17g.42543766A>GCA399604781NAGLUc.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
17g.42543766A>TCA399604783NAGLUc.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)
17g.42543767G>ACA500217324NAGLUc.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=)
17g.42543767G>CCA399604785NAGLUc.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)
17g.42543767G>TCA399604787NAGLUc.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
17g.42543768C>ACA399604789NAGLUc.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
17g.42543768C=CA2260530449NAGLUc.1762C= (p.Leu588=)
c.1100C= (n.1100C=)
c.931C= (p.Leu311=)
c.763C= (p.Leu255=)
c.1819C= (p.Leu607=)
17g.42543768C>GCA399604790NAGLUc.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
17g.42543768C>TCA500217329NAGLUc.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=)
17g.42543769T>ACA399604793NAGLUc.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
17g.42543769T>CCA399604794NAGLUc.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
17g.42543769T>GCA399604795NAGLUc.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)
17g.42543769T=CA2260530450NAGLUc.1763T= (p.Leu588=)
c.1101T= (n.1101T=)
c.932T= (p.Leu311=)
c.764T= (p.Leu255=)
c.1820T= (p.Leu607=)
17g.42543770G>ACA500217336NAGLUc.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
17g.42543770G>CCA500217332NAGLUc.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=)
17g.42543770G>TCA500217335NAGLUc.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
17g.42543771G>ACA399604797NAGLUc.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)
17g.42543771G>CCA399604798NAGLUc.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
17g.42543771G>TCA399604800NAGLUc.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)
17g.42543772C>ACA399604805NAGLUc.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)
17g.42543772C=CA2260530451NAGLUc.1766C= (p.Ala589=)
c.1104C= (n.1104C=)
c.935C= (p.Ala312=)
c.767C= (p.Ala256=)
c.1823C= (p.Ala608=)
17g.42543772C>GCA399604802NAGLUc.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)
17g.42543772C>TCA8577087NAGLUc.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
17g.42543773C>ACA500217340NAGLUc.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
17g.42543773C>GCA500217339NAGLUc.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=)
17g.42543773C>TCA500217341NAGLUc.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
17g.42543774T>ACA399604808NAGLUc.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)
17g.42543774T>CCA399604810NAGLUc.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)
17g.42543774T>GCA399604811NAGLUc.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)
17g.42543775C>ACA399604814NAGLUc.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)
17g.42543775C>GCA399604815NAGLUc.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)
17g.42543775C>TCA399604816NAGLUc.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)
17g.42543776C>ACA500217346NAGLUc.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=)
17g.42543776C>GCA500217351NAGLUc.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=)
17g.42543776C>TCA500217348NAGLUc.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
17g.42543777C>ACA399604817NAGLUc.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)
17g.42543777C=CA2260530452NAGLUc.1771C= (p.Leu591=)
c.1109C= (n.1109C=)
c.940C= (p.Leu314=)
c.772C= (p.Leu258=)
c.1828C= (p.Leu610=)
17g.42543777C>GCA399604818NAGLUc.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)
17g.42543777C>TCA8577088NAGLUc.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
17g.42543778T>ACA399604822NAGLUc.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
17g.42543778T>CCA399604823NAGLUc.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
17g.42543778T>GCA399604825NAGLUc.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)
17g.42543778T=CA2260530453NAGLUc.1772T= (p.Leu591=)
c.1110T= (n.1110T=)
c.941T= (p.Leu314=)
c.773T= (p.Leu258=)
c.1829T= (p.Leu610=)
17g.42543779delCA2573153974NAGLUc.1773del (p.Leu592Ter)
c.1111del (n.1111del)
c.942del (p.Leu315Ter)
c.774del (p.Leu259Ter)
c.1830del (p.Leu611Ter)
 ClinVar dbSNP
17g.42543779G>ACA500217356NAGLUc.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
17g.42543779G>CCA500217355NAGLUc.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=)
17g.42543779G>TCA500217357NAGLUc.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=)
17g.42543780T>ACA399604829NAGLUc.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)
17g.42543780T>CCA500217359NAGLUc.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=)
17g.42543780T>GCA399604827NAGLUc.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)
17g.42543781T>ACA399604831NAGLUc.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)
17g.42543781T>CCA399604835NAGLUc.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)
17g.42543781T>GCA399604833NAGLUc.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)
17g.42543782G>ACA500217363NAGLUc.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=)
17g.42543782G>CCA399604837NAGLUc.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)
17g.42543782G>TCA399604838NAGLUc.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
17g.42543783A>CCA500217365NAGLUc.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=)
17g.42543783A>GCA399604840NAGLUc.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)
17g.42543783A>TCA399604842NAGLUc.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)
17g.42543784G>ACA399604844NAGLUc.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
17g.42543784G>CCA399604845NAGLUc.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)
17g.42543784G=CA2260530454NAGLUc.1778G= (p.Arg593=)
c.1116G= (n.1116G=)
c.947G= (p.Arg316=)
c.779G= (p.Arg260=)
c.1835G= (p.Arg612=)
17g.42543784G>TCA399604847NAGLUc.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)
17g.42543785G>ACA500217372NAGLUc.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
17g.42543785G>CCA399604849NAGLUc.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)
17g.42543785G>TCA399604851NAGLUc.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)
17g.42543786G>ACA399604853NAGLUc.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
17g.42543786G>CCA399604855NAGLUc.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)
17g.42543786G>TCA399604856NAGLUc.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
17g.42543787C>ACA399604861NAGLUc.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)
17g.42543787C=CA2260530455NAGLUc.1781C= (p.Ala594=)
c.1119C= (n.1119C=)
c.950C= (p.Ala317=)
c.782C= (p.Ala261=)
c.1838C= (p.Ala613=)
17g.42543787C>GCA399604860NAGLUc.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)
17g.42543787C>TCA10650160NAGLUc.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
17g.42543788T>ACA8577089NAGLUc.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
17g.42543788T>CCA500217378NAGLUc.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=)
17g.42543788T>GCA500217377NAGLUc.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=)
17g.42543788T=CA2260530456NAGLUc.1782T= (p.Ala594=)
c.1120T= (n.1120T=)
c.951T= (p.Ala317=)
c.783T= (p.Ala261=)
c.1839T= (p.Ala613=)
17g.42543789G>ACA8577090NAGLUc.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
17g.42543789G>CCA399604865NAGLUc.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)
17g.42543789G=CA2260530457NAGLUc.1783G= (p.Gly595=)
c.1121G= (n.1121G=)
c.952G= (p.Gly318=)
c.784G= (p.Gly262=)
c.1840G= (p.Gly614=)
17g.42543789G>TCA399604867NAGLUc.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)
17g.42543790G>ACA399604869NAGLUc.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)
17g.42543790G>CCA399604871NAGLUc.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)
17g.42543790G=CA2260530458NAGLUc.1784G= (p.Gly595=)
c.1122G= (n.1122G=)
c.953G= (p.Gly318=)
c.785G= (p.Gly262=)
c.1841G= (p.Gly614=)
17g.42543790G>TCA399604873NAGLUc.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
17g.42543791A=CA2260530459NAGLUc.1785A= (p.Gly595=)
c.1123A= (n.1123A=)
c.954A= (p.Gly318=)
c.786A= (p.Gly262=)
c.1842A= (p.Gly614=)
17g.42543791A>CCA500217387NAGLUc.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
17g.42543791A>GCA500217386NAGLUc.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
17g.42543791A>TCA500217385NAGLUc.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=)
17g.42543792G>ACA399604875NAGLUc.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)
17g.42543792G>CCA399604877NAGLUc.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)
17g.42543792G=CA2260530460NAGLUc.1786G= (p.Gly596=)
c.1124G= (n.1124G=)
c.955G= (p.Gly319=)
c.787G= (p.Gly263=)
c.1843G= (p.Gly615=)
17g.42543792G>TCA8577091NAGLUc.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
17g.42543793G>ACA399604880NAGLUc.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
17g.42543793G>CCA399604881NAGLUc.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)
17g.42543793G=CA2260530461NAGLUc.1787G= (p.Gly596=)
c.1125G= (n.1125G=)
c.956G= (p.Gly319=)
c.788G= (p.Gly263=)
c.1844G= (p.Gly615=)
17g.42543793G>TCA399604883NAGLUc.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)
17g.42543794C>ACA500217395NAGLUc.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
17g.42543794C=CA2260530462NAGLUc.1788C= (p.Gly596=)
c.1126C= (n.1126C=)
c.957C= (p.Gly319=)
c.789C= (p.Gly263=)
c.1845C= (p.Gly615=)
17g.42543794C>GCA8577093NAGLUc.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
17g.42543794C>TCA8577092NAGLUc.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
17g.42543795G>ACA8577094NAGLUc.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
17g.42543795G>CCA8577095NAGLUc.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
17g.42543795G=CA2260530463NAGLUc.1789G= (p.Val597=)
c.1127G= (n.1127G=)
c.958G= (p.Val320=)
c.790G= (p.Val264=)
c.1846G= (p.Val616=)
17g.42543795G>TCA399604890NAGLUc.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
17g.42543796T>ACA399604892NAGLUc.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)
17g.42543796T>CCA399604893NAGLUc.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)
17g.42543796T>GCA399604895NAGLUc.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)
17g.42543797C>ACA500217421NAGLUc.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=)
17g.42543797C>GCA500217423NAGLUc.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=)
17g.42543797C>TCA500217424NAGLUc.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=)
17g.42543798C>ACA399604898NAGLUc.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
17g.42543798C>GCA399604899NAGLUc.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)
17g.42543798C>TCA500217426NAGLUc.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
17g.42543799T>ACA399604902NAGLUc.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)
17g.42543799T>CCA399604905NAGLUc.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
17g.42543799T>GCA399604904NAGLUc.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)
17g.42543800G>ACA8577096NAGLUc.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
17g.42543800G>CCA500217450NAGLUc.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=)
17g.42543800G=CA2260530464NAGLUc.1794G= (p.Leu598=)
c.1132G= (n.1132G=)
c.963G= (p.Leu321=)
c.795G= (p.Leu265=)
c.1851G= (p.Leu617=)
17g.42543800G>TCA500217445NAGLUc.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=)
17g.42543801G>ACA399604906NAGLUc.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)
17g.42543801G>CCA399604907NAGLUc.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)
17g.42543801G>TCA399604908NAGLUc.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)
17g.42543802C>ACA399604909NAGLUc.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
17g.42543802C=CA2260530465NAGLUc.1796C= (p.Ala599=)
c.1134C= (n.1134C=)
c.965C= (p.Ala322=)
c.797C= (p.Ala266=)
c.1853C= (p.Ala618=)
17g.42543802C>GCA399604911NAGLUc.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)
17g.42543802C>TCA399604910NAGLUc.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
17g.42543803C>ACA500217474NAGLUc.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=)
17g.42543803C=CA2260530466NAGLUc.1797C= (p.Ala599=)
c.1135C= (n.1135C=)
c.966C= (p.Ala322=)
c.798C= (p.Ala266=)
c.1854C= (p.Ala618=)
17g.42543803C>GCA8577097NAGLUc.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
17g.42543803C>TCA500217472NAGLUc.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
17g.42543804T>ACA399604912NAGLUc.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)
17g.42543804T>CCA399604913NAGLUc.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)
17g.42543804T>GCA399604914NAGLUc.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)
17g.42543805A=CA2260530467NAGLUc.1799A= (p.Tyr600=)
c.1137A= (n.1137A=)
c.968A= (p.Tyr323=)
c.800A= (p.Tyr267=)
c.1856A= (p.Tyr619=)
17g.42543805A>CCA399604915NAGLUc.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)
17g.42543805A>GCA399604916NAGLUc.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
17g.42543805A>TCA399604917NAGLUc.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)
17g.42543806T>ACA399604918NAGLUc.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)
17g.42543806T>CCA500217509NAGLUc.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=)
17g.42543806T>GCA399604919NAGLUc.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)
17g.42543806T=CA2260530468NAGLUc.1800T= (p.Tyr600=)
c.1138T= (n.1138T=)
c.969T= (p.Tyr323=)
c.801T= (p.Tyr267=)
c.1857T= (p.Tyr619=)
17g.42543807G>ACA399604920NAGLUc.1801G>A (p.Glu601Lys)
c.1139G>A (n.1139G>A)
c.970G>A (p.Glu324Lys)
c.802G>A (p.Glu268Lys)
c.1858G>A (p.Glu620Lys)
 gnomAD v4
17g.42543807G>CCA399604921NAGLUc.1801G>C (p.Glu601Gln)
c.1139G>C (n.1139G>C)
c.970G>C (p.Glu324Gln)
c.802G>C (p.Glu268Gln)
c.1858G>C (p.Glu620Gln)
17g.42543807G>TCA399604922NAGLUc.1801G>T (p.Glu601Ter)
c.1139G>T (n.1139G>T)
c.970G>T (p.Glu324Ter)
c.802G>T (p.Glu268Ter)
c.1858G>T (p.Glu620Ter)
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

Number of alleles fetched