Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
17g.42543909G>ACA399605427NAGLUc.1903G>A (p.Ala635Thr)
c.1241G>A (n.1241G>A)
c.1072G>A (p.Ala358Thr)
c.904G>A (p.Ala302Thr)
c.1960G>A (p.Ala654Thr)
 ClinVar dbSNP gnomAD v2
17g.42543909G>CCA399605428NAGLUc.1903G>C (p.Ala635Pro)
c.1241G>C (n.1241G>C)
c.1072G>C (p.Ala358Pro)
c.904G>C (p.Ala302Pro)
c.1960G>C (p.Ala654Pro)
17g.42543909G=CA2260530514NAGLUc.1903G= (p.Ala635=)
c.1241G= (n.1241G=)
c.1072G= (p.Ala358=)
c.904G= (p.Ala302=)
c.1960G= (p.Ala654=)
17g.42543909G>TCA399605429NAGLUc.1903G>T (p.Ala635Ser)
c.1241G>T (n.1241G>T)
c.1072G>T (p.Ala358Ser)
c.904G>T (p.Ala302Ser)
c.1960G>T (p.Ala654Ser)
17g.42543910C>ACA399605430NAGLUc.1904C>A (p.Ala635Asp)
c.1242C>A (n.1242C>A)
c.1073C>A (p.Ala358Asp)
c.905C>A (p.Ala302Asp)
c.1961C>A (p.Ala654Asp)
 gnomAD v4
17g.42543910C>GCA399605431NAGLUc.1904C>G (p.Ala635Gly)
c.1242C>G (n.1242C>G)
c.1073C>G (p.Ala358Gly)
c.905C>G (p.Ala302Gly)
c.1961C>G (p.Ala654Gly)
17g.42543910C>TCA399605432NAGLUc.1904C>T (p.Ala635Val)
c.1242C>T (n.1242C>T)
c.1073C>T (p.Ala358Val)
c.905C>T (p.Ala302Val)
c.1961C>T (p.Ala654Val)
 COSMIC
17g.42543911C>ACA500218442NAGLUc.1905C>A (p.Ala635=)
c.1243C>A (n.1243C>A)
c.1074C>A (p.Ala358=)
c.906C>A (p.Ala302=)
c.1962C>A (p.Ala654=)
17g.42543911C=CA2260530515NAGLUc.1905C= (p.Ala635=)
c.1243C= (n.1243C=)
c.1074C= (p.Ala358=)
c.906C= (p.Ala302=)
c.1962C= (p.Ala654=)
17g.42543911C>GCA500218438NAGLUc.1905C>G (p.Ala635=)
c.1243C>G (n.1243C>G)
c.1074C>G (p.Ala358=)
c.906C>G (p.Ala302=)
c.1962C>G (p.Ala654=)
17g.42543911C>TCA8577118NAGLUc.1905C>T (p.Ala635=)
c.1243C>T (n.1243C>T)
c.1074C>T (p.Ala358=)
c.906C>T (p.Ala302=)
c.1962C>T (p.Ala654=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543912G>ACA8577119NAGLUc.1906G>A (p.Asp636Asn)
c.1244G>A (n.1244G>A)
c.1075G>A (p.Asp359Asn)
c.907G>A (p.Asp303Asn)
c.1963G>A (p.Asp655Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543912G>CCA399605433NAGLUc.1906G>C (p.Asp636His)
c.1244G>C (n.1244G>C)
c.1075G>C (p.Asp359His)
c.907G>C (p.Asp303His)
c.1963G>C (p.Asp655His)
17g.42543912G=CA2260530516NAGLUc.1906G= (p.Asp636=)
c.1244G= (n.1244G=)
c.1075G= (p.Asp359=)
c.907G= (p.Asp303=)
c.1963G= (p.Asp655=)
17g.42543912G>TCA399605434NAGLUc.1906G>T (p.Asp636Tyr)
c.1244G>T (n.1244G>T)
c.1075G>T (p.Asp359Tyr)
c.907G>T (p.Asp303Tyr)
c.1963G>T (p.Asp655Tyr)
 gnomAD v4
17g.42543913A=CA2260530517NAGLUc.1907A= (p.Asp636=)
c.1245A= (n.1245A=)
c.1076A= (p.Asp359=)
c.908A= (p.Asp303=)
c.1964A= (p.Asp655=)
17g.42543913A>CCA399605437NAGLUc.1907A>C (p.Asp636Ala)
c.1245A>C (n.1245A>C)
c.1076A>C (p.Asp359Ala)
c.908A>C (p.Asp303Ala)
c.1964A>C (p.Asp655Ala)
17g.42543913A>GCA399605436NAGLUc.1907A>G (p.Asp636Gly)
c.1245A>G (n.1245A>G)
c.1076A>G (p.Asp359Gly)
c.908A>G (p.Asp303Gly)
c.1964A>G (p.Asp655Gly)
 dbSNP
17g.42543913A>TCA399605435NAGLUc.1907A>T (p.Asp636Val)
c.1245A>T (n.1245A>T)
c.1076A>T (p.Asp359Val)
c.908A>T (p.Asp303Val)
c.1964A>T (p.Asp655Val)
17g.42543914T>ACA399605438NAGLUc.1908T>A (p.Asp636Glu)
c.1246T>A (n.1246T>A)
c.1077T>A (p.Asp359Glu)
c.909T>A (p.Asp303Glu)
c.1965T>A (p.Asp655Glu)
17g.42543914T>CCA500218457NAGLUc.1908T>C (p.Asp636=)
c.1246T>C (n.1246T>C)
c.1077T>C (p.Asp359=)
c.909T>C (p.Asp303=)
c.1965T>C (p.Asp655=)
17g.42543914T>GCA399605439NAGLUc.1908T>G (p.Asp636Glu)
c.1246T>G (n.1246T>G)
c.1077T>G (p.Asp359Glu)
c.909T>G (p.Asp303Glu)
c.1965T>G (p.Asp655Glu)
17g.42543915T>ACA399605440NAGLUc.1909T>A (p.Phe637Ile)
c.1247T>A (n.1247T>A)
c.1078T>A (p.Phe360Ile)
c.910T>A (p.Phe304Ile)
c.1966T>A (p.Phe656Ile)
17g.42543915T>CCA399605441NAGLUc.1909T>C (p.Phe637Leu)
c.1247T>C (n.1247T>C)
c.1078T>C (p.Phe360Leu)
c.910T>C (p.Phe304Leu)
c.1966T>C (p.Phe656Leu)
 ClinVar
17g.42543915T>GCA399605442NAGLUc.1909T>G (p.Phe637Val)
c.1247T>G (n.1247T>G)
c.1078T>G (p.Phe360Val)
c.910T>G (p.Phe304Val)
c.1966T>G (p.Phe656Val)
17g.42543916_42543918delCA2695225867NAGLUc.1910_1912del (p.Phe637del)
c.1248_1250del (n.1248_1250del)
c.1079_1081del (p.Phe360del)
c.911_913del (p.Phe304del)
c.1967_1969del (p.Phe656del)
17g.42543916T>ACA399605443NAGLUc.1910T>A (p.Phe637Tyr)
c.1248T>A (n.1248T>A)
c.1079T>A (p.Phe360Tyr)
c.911T>A (p.Phe304Tyr)
c.1967T>A (p.Phe656Tyr)
17g.42543916T>CCA399605444NAGLUc.1910T>C (p.Phe637Ser)
c.1248T>C (n.1248T>C)
c.1079T>C (p.Phe360Ser)
c.911T>C (p.Phe304Ser)
c.1967T>C (p.Phe656Ser)
17g.42543916T>GCA399605445NAGLUc.1910T>G (p.Phe637Cys)
c.1248T>G (n.1248T>G)
c.1079T>G (p.Phe360Cys)
c.911T>G (p.Phe304Cys)
c.1967T>G (p.Phe656Cys)
17g.42543917C>ACA399605446NAGLUc.1911C>A (p.Phe637Leu)
c.1249C>A (n.1249C>A)
c.1080C>A (p.Phe360Leu)
c.912C>A (p.Phe304Leu)
c.1968C>A (p.Phe656Leu)
 gnomAD v4
17g.42543917C=CA2260530518NAGLUc.1911C= (p.Phe637=)
c.1249C= (n.1249C=)
c.1080C= (p.Phe360=)
c.912C= (p.Phe304=)
c.1968C= (p.Phe656=)
17g.42543917C>GCA399605447NAGLUc.1911C>G (p.Phe637Leu)
c.1249C>G (n.1249C>G)
c.1080C>G (p.Phe360Leu)
c.912C>G (p.Phe304Leu)
c.1968C>G (p.Phe656Leu)
 ClinVar
17g.42543917C>TCA500218490NAGLUc.1911C>T (p.Phe637=)
c.1249C>T (n.1249C>T)
c.1080C>T (p.Phe360=)
c.912C>T (p.Phe304=)
c.1968C>T (p.Phe656=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
17g.42543918T>ACA399605448NAGLUc.1912T>A (p.Tyr638Asn)
c.1250T>A (n.1250T>A)
c.1081T>A (p.Tyr361Asn)
c.913T>A (p.Tyr305Asn)
c.1969T>A (p.Tyr657Asn)
17g.42543918T>CCA399605449NAGLUc.1912T>C (p.Tyr638His)
c.1250T>C (n.1250T>C)
c.1081T>C (p.Tyr361His)
c.913T>C (p.Tyr305His)
c.1969T>C (p.Tyr657His)
17g.42543918T>GCA399605450NAGLUc.1912T>G (p.Tyr638Asp)
c.1250T>G (n.1250T>G)
c.1081T>G (p.Tyr361Asp)
c.913T>G (p.Tyr305Asp)
c.1969T>G (p.Tyr657Asp)
17g.42543919A>CCA399605452NAGLUc.1913A>C (p.Tyr638Ser)
c.1251A>C (n.1251A>C)
c.1082A>C (p.Tyr361Ser)
c.914A>C (p.Tyr305Ser)
c.1970A>C (p.Tyr657Ser)
17g.42543919A>GCA399605453NAGLUc.1913A>G (p.Tyr638Cys)
c.1251A>G (n.1251A>G)
c.1082A>G (p.Tyr361Cys)
c.914A>G (p.Tyr305Cys)
c.1970A>G (p.Tyr657Cys)
 ClinVar dbSNP
17g.42543919A>TCA399605451NAGLUc.1913A>T (p.Tyr638Phe)
c.1251A>T (n.1251A>T)
c.1082A>T (p.Tyr361Phe)
c.914A>T (p.Tyr305Phe)
c.1970A>T (p.Tyr657Phe)
17g.42543920C>ACA399605454NAGLUc.1914C>A (p.Tyr638Ter)
c.1252C>A (n.1252C>A)
c.1083C>A (p.Tyr361Ter)
c.915C>A (p.Tyr305Ter)
c.1971C>A (p.Tyr657Ter)
17g.42543920C=CA2260530519NAGLUc.1914C= (p.Tyr638=)
c.1252C= (n.1252C=)
c.1083C= (p.Tyr361=)
c.915C= (p.Tyr305=)
c.1971C= (p.Tyr657=)
17g.42543920C>GCA399605455NAGLUc.1914C>G (p.Tyr638Ter)
c.1252C>G (n.1252C>G)
c.1083C>G (p.Tyr361Ter)
c.915C>G (p.Tyr305Ter)
c.1971C>G (p.Tyr657Ter)
17g.42543920C>TCA8577120NAGLUc.1914C>T (p.Tyr638=)
c.1252C>T (n.1252C>T)
c.1083C>T (p.Tyr361=)
c.915C>T (p.Tyr305=)
c.1971C>T (p.Tyr657=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543921G>ACA399605456NAGLUc.1915G>A (p.Glu639Lys)
c.1253G>A (n.1253G>A)
c.1084G>A (p.Glu362Lys)
c.916G>A (p.Glu306Lys)
c.1972G>A (p.Glu658Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42543921G>CCA290781130NAGLUc.1915G>C (p.Glu639Gln)
c.1253G>C (n.1253G>C)
c.1084G>C (p.Glu362Gln)
c.916G>C (p.Glu306Gln)
c.1972G>C (p.Glu658Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42543921G=CA2260530520NAGLUc.1915G= (p.Glu639=)
c.1253G= (n.1253G=)
c.1084G= (p.Glu362=)
c.916G= (p.Glu306=)
c.1972G= (p.Glu658=)
17g.42543921G>TCA399605457NAGLUc.1915G>T (p.Glu639Ter)
c.1253G>T (n.1253G>T)
c.1084G>T (p.Glu362Ter)
c.916G>T (p.Glu306Ter)
c.1972G>T (p.Glu658Ter)
 ClinVar dbSNP gnomAD v4 COSMIC
17g.42543921delinsTTCA2580093761NAGLUc.1915delinsTT (p.Glu639LeufsTer?)
c.1253delinsTT (n.1253delinsTT)
c.1084delinsTT (p.Glu362LeufsTer?)
c.916delinsTT (p.Glu306LeufsTer?)
c.1972delinsTT (p.Glu658LeufsTer?)
 ClinVar
17g.42543922A=CA2260530521NAGLUc.1916A= (p.Glu639=)
c.1254A= (n.1254A=)
c.1085A= (p.Glu362=)
c.917A= (p.Glu306=)
c.1973A= (p.Glu658=)
17g.42543922A>CCA399605460NAGLUc.1916A>C (p.Glu639Ala)
c.1254A>C (n.1254A>C)
c.1085A>C (p.Glu362Ala)
c.917A>C (p.Glu306Ala)
c.1973A>C (p.Glu658Ala)
17g.42543922A>GCA399605463NAGLUc.1916A>G (p.Glu639Gly)
c.1254A>G (n.1254A>G)
c.1085A>G (p.Glu362Gly)
c.917A>G (p.Glu306Gly)
c.1973A>G (p.Glu658Gly)
 dbSNP gnomAD v4
17g.42543922A>TCA399605462NAGLUc.1916A>T (p.Glu639Val)
c.1254A>T (n.1254A>T)
c.1085A>T (p.Glu362Val)
c.917A>T (p.Glu306Val)
c.1973A>T (p.Glu658Val)
17g.42543923G>ACA500218516NAGLUc.1917G>A (p.Glu639=)
c.1255G>A (n.1255G>A)
c.1086G>A (p.Glu362=)
c.918G>A (p.Glu306=)
c.1974G>A (p.Glu658=)
17g.42543923G>CCA399605466NAGLUc.1917G>C (p.Glu639Asp)
c.1255G>C (n.1255G>C)
c.1086G>C (p.Glu362Asp)
c.918G>C (p.Glu306Asp)
c.1974G>C (p.Glu658Asp)
 dbSNP gnomAD v2
17g.42543923G=CA2260530522NAGLUc.1917G= (p.Glu639=)
c.1255G= (n.1255G=)
c.1086G= (p.Glu362=)
c.918G= (p.Glu306=)
c.1974G= (p.Glu658=)
17g.42543923G>TCA399605467NAGLUc.1917G>T (p.Glu639Asp)
c.1255G>T (n.1255G>T)
c.1086G>T (p.Glu362Asp)
c.918G>T (p.Glu306Asp)
c.1974G>T (p.Glu658Asp)
17g.42543924C>ACA399605469NAGLUc.1918C>A (p.Gln640Lys)
c.1256C>A (n.1256C>A)
c.1087C>A (p.Gln363Lys)
c.919C>A (p.Gln307Lys)
c.1975C>A (p.Gln659Lys)
 gnomAD v4
17g.42543924C=CA2260530523NAGLUc.1918C= (p.Gln640=)
c.1256C= (n.1256C=)
c.1087C= (p.Gln363=)
c.919C= (p.Gln307=)
c.1975C= (p.Gln659=)
17g.42543924C>GCA399605471NAGLUc.1918C>G (p.Gln640Glu)
c.1256C>G (n.1256C>G)
c.1087C>G (p.Gln363Glu)
c.919C>G (p.Gln307Glu)
c.1975C>G (p.Gln659Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42543924C>TCA8577121NAGLUc.1918C>T (p.Gln640Ter)
c.1256C>T (n.1256C>T)
c.1087C>T (p.Gln363Ter)
c.919C>T (p.Gln307Ter)
c.1975C>T (p.Gln659Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42543925A=CA2260530524NAGLUc.1919A= (p.Gln640=)
c.1257A= (n.1257A=)
c.1088A= (p.Gln363=)
c.920A= (p.Gln307=)
c.1976A= (p.Gln659=)
17g.42543925A>CCA399605474NAGLUc.1919A>C (p.Gln640Pro)
c.1257A>C (n.1257A>C)
c.1088A>C (p.Gln363Pro)
c.920A>C (p.Gln307Pro)
c.1976A>C (p.Gln659Pro)
 dbSNP gnomAD v3 gnomAD v4
17g.42543925A>GCA8577122NAGLUc.1919A>G (p.Gln640Arg)
c.1257A>G (n.1257A>G)
c.1088A>G (p.Gln363Arg)
c.920A>G (p.Gln307Arg)
c.1976A>G (p.Gln659Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42543925A>TCA399605477NAGLUc.1919A>T (p.Gln640Leu)
c.1257A>T (n.1257A>T)
c.1088A>T (p.Gln363Leu)
c.920A>T (p.Gln307Leu)
c.1976A>T (p.Gln659Leu)
 gnomAD v4
17g.42543926G>ACA500218536NAGLUc.1920G>A (p.Gln640=)
c.1258G>A (n.1258G>A)
c.1089G>A (p.Gln363=)
c.921G>A (p.Gln307=)
c.1977G>A (p.Gln659=)
 dbSNP
17g.42543926G>CCA399605479NAGLUc.1920G>C (p.Gln640His)
c.1258G>C (n.1258G>C)
c.1089G>C (p.Gln363His)
c.921G>C (p.Gln307His)
c.1977G>C (p.Gln659His)
17g.42543926G=CA2260530525NAGLUc.1920G= (p.Gln640=)
c.1258G= (n.1258G=)
c.1089G= (p.Gln363=)
c.921G= (p.Gln307=)
c.1977G= (p.Gln659=)
17g.42543926G>TCA399605481NAGLUc.1920G>T (p.Gln640His)
c.1258G>T (n.1258G>T)
c.1089G>T (p.Gln363His)
c.921G>T (p.Gln307His)
c.1977G>T (p.Gln659His)
 gnomAD v4
17g.42543927A>CCA399605486NAGLUc.1921A>C (p.Asn641His)
c.1259A>C (n.1259A>C)
c.1090A>C (p.Asn364His)
c.922A>C (p.Asn308His)
c.1978A>C (p.Asn660His)
17g.42543927A>GCA399605484NAGLUc.1921A>G (p.Asn641Asp)
c.1259A>G (n.1259A>G)
c.1090A>G (p.Asn364Asp)
c.922A>G (p.Asn308Asp)
c.1978A>G (p.Asn660Asp)
 COSMIC
17g.42543927A>TCA399605483NAGLUc.1921A>T (p.Asn641Tyr)
c.1259A>T (n.1259A>T)
c.1090A>T (p.Asn364Tyr)
c.922A>T (p.Asn308Tyr)
c.1978A>T (p.Asn660Tyr)
 ClinVar gnomAD v4
17g.42543928A=CA2260530526NAGLUc.1922A= (p.Asn641=)
c.1260A= (n.1260A=)
c.1091A= (p.Asn364=)
c.923A= (p.Asn308=)
c.1979A= (p.Asn660=)
17g.42543928A>CCA8577123NAGLUc.1922A>C (p.Asn641Thr)
c.1260A>C (n.1260A>C)
c.1091A>C (p.Asn364Thr)
c.923A>C (p.Asn308Thr)
c.1979A>C (p.Asn660Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42543928A>GCA399605488NAGLUc.1922A>G (p.Asn641Ser)
c.1260A>G (n.1260A>G)
c.1091A>G (p.Asn364Ser)
c.923A>G (p.Asn308Ser)
c.1979A>G (p.Asn660Ser)
17g.42543928A>TCA399605489NAGLUc.1922A>T (p.Asn641Ile)
c.1260A>T (n.1260A>T)
c.1091A>T (p.Asn364Ile)
c.923A>T (p.Asn308Ile)
c.1979A>T (p.Asn660Ile)
17g.42543929C>ACA399605491NAGLUc.1923C>A (p.Asn641Lys)
c.1261C>A (n.1261C>A)
c.1092C>A (p.Asn364Lys)
c.924C>A (p.Asn308Lys)
c.1980C>A (p.Asn660Lys)
17g.42543929C=CA2260530527NAGLUc.1923C= (p.Asn641=)
c.1261C= (n.1261C=)
c.1092C= (p.Asn364=)
c.924C= (p.Asn308=)
c.1980C= (p.Asn660=)
17g.42543929C>GCA399605492NAGLUc.1923C>G (p.Asn641Lys)
c.1261C>G (n.1261C>G)
c.1092C>G (p.Asn364Lys)
c.924C>G (p.Asn308Lys)
c.1980C>G (p.Asn660Lys)
 ClinVar gnomAD v4
17g.42543929C>TCA500218551NAGLUc.1923C>T (p.Asn641=)
c.1261C>T (n.1261C>T)
c.1092C>T (p.Asn364=)
c.924C>T (p.Asn308=)
c.1980C>T (p.Asn660=)
 dbSNP gnomAD v2 gnomAD v4
17g.42543930A>CCA399605495NAGLUc.1924A>C (p.Ser642Arg)
c.1262A>C (n.1262A>C)
c.1093A>C (p.Ser365Arg)
c.925A>C (p.Ser309Arg)
c.1981A>C (p.Ser661Arg)
17g.42543930A>GCA399605496NAGLUc.1924A>G (p.Ser642Gly)
c.1262A>G (n.1262A>G)
c.1093A>G (p.Ser365Gly)
c.925A>G (p.Ser309Gly)
c.1981A>G (p.Ser661Gly)
 gnomAD v4
17g.42543930A>TCA399605498NAGLUc.1924A>T (p.Ser642Cys)
c.1262A>T (n.1262A>T)
c.1093A>T (p.Ser365Cys)
c.925A>T (p.Ser309Cys)
c.1981A>T (p.Ser661Cys)
17g.42543931G>ACA399605501NAGLUc.1925G>A (p.Ser642Asn)
c.1263G>A (n.1263G>A)
c.1094G>A (p.Ser365Asn)
c.926G>A (p.Ser309Asn)
c.1982G>A (p.Ser661Asn)
17g.42543931G>CCA399605502NAGLUc.1925G>C (p.Ser642Thr)
c.1263G>C (n.1263G>C)
c.1094G>C (p.Ser365Thr)
c.926G>C (p.Ser309Thr)
c.1982G>C (p.Ser661Thr)
17g.42543931G>TCA399605504NAGLUc.1925G>T (p.Ser642Ile)
c.1263G>T (n.1263G>T)
c.1094G>T (p.Ser365Ile)
c.926G>T (p.Ser309Ile)
c.1982G>T (p.Ser661Ile)
17g.42543932C>ACA399605507NAGLUc.1926C>A (p.Ser642Arg)
c.1264C>A (n.1264C>A)
c.1095C>A (p.Ser365Arg)
c.927C>A (p.Ser309Arg)
c.1983C>A (p.Ser661Arg)
 gnomAD v4
17g.42543932C=CA2260530528NAGLUc.1926C= (p.Ser642=)
c.1264C= (n.1264C=)
c.1095C= (p.Ser365=)
c.927C= (p.Ser309=)
c.1983C= (p.Ser661=)
17g.42543932C>GCA399605506NAGLUc.1926C>G (p.Ser642Arg)
c.1264C>G (n.1264C>G)
c.1095C>G (p.Ser365Arg)
c.927C>G (p.Ser309Arg)
c.1983C>G (p.Ser661Arg)
17g.42543932C>TCA500218573NAGLUc.1926C>T (p.Ser642=)
c.1264C>T (n.1264C>T)
c.1095C>T (p.Ser365=)
c.927C>T (p.Ser309=)
c.1983C>T (p.Ser661=)
 dbSNP gnomAD v2 gnomAD v4
17g.42543933delCA2637971777NAGLUc.1927del (p.Arg643AlafsTer4)
c.1265del (n.1265del)
c.1096del (p.Arg366AlafsTer4)
c.928del (p.Arg310AlafsTer4)
c.1984del (p.Arg662AlafsTer4)
 gnomAD v4
17g.42543933C>ACA399605509NAGLUc.1927C>A (p.Arg643Ser)
c.1265C>A (n.1265C>A)
c.1096C>A (p.Arg366Ser)
c.928C>A (p.Arg310Ser)
c.1984C>A (p.Arg662Ser)
 dbSNP
17g.42543933C=CA2260530529NAGLUc.1927C= (p.Arg643=)
c.1265C= (n.1265C=)
c.1096C= (p.Arg366=)
c.928C= (p.Arg310=)
c.1984C= (p.Arg662=)
17g.42543933C>GCA399605510NAGLUc.1927C>G (p.Arg643Gly)
c.1265C>G (n.1265C>G)
c.1096C>G (p.Arg366Gly)
c.928C>G (p.Arg310Gly)
c.1984C>G (p.Arg662Gly)
17g.42543933C>TCA115048NAGLUc.1927C>T (p.Arg643Cys)
c.1265C>T (n.1265C>T)
c.1096C>T (p.Arg366Cys)
c.928C>T (p.Arg310Cys)
c.1984C>T (p.Arg662Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42543934_42543938dupCA2695225868NAGLUc.1928_1932dup (p.Gln645AlafsTer4)
c.1266_1270dup (n.1266_1270dup)
c.1097_1101dup (p.Gln368AlafsTer4)
c.929_933dup (p.Gln312AlafsTer4)
c.1985_1989dup (p.Gln664AlafsTer4)
17g.42543934G>ACA250027NAGLUc.1928G>A (p.Arg643His)
c.1266G>A (n.1266G>A)
c.1097G>A (p.Arg366His)
c.929G>A (p.Arg310His)
c.1985G>A (p.Arg662His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42543934G>CCA399605512NAGLUc.1928G>C (p.Arg643Pro)
c.1266G>C (n.1266G>C)
c.1097G>C (p.Arg366Pro)
c.929G>C (p.Arg310Pro)
c.1985G>C (p.Arg662Pro)
17g.42543934G=CA2260530530NAGLUc.1928G= (p.Arg643=)
c.1266G= (n.1266G=)
c.1097G= (p.Arg366=)
c.929G= (p.Arg310=)
c.1985G= (p.Arg662=)
17g.42543934G>TCA399605514NAGLUc.1928G>T (p.Arg643Leu)
c.1266G>T (n.1266G>T)
c.1097G>T (p.Arg366Leu)
c.929G>T (p.Arg310Leu)
c.1985G>T (p.Arg662Leu)
17g.42543935C>ACA500218593NAGLUc.1929C>A (p.Arg643=)
c.1267C>A (n.1267C>A)
c.1098C>A (p.Arg366=)
c.930C>A (p.Arg310=)
c.1986C>A (p.Arg662=)
 ClinVar gnomAD v4
17g.42543935C>GCA500218590NAGLUc.1929C>G (p.Arg643=)
c.1267C>G (n.1267C>G)
c.1098C>G (p.Arg366=)
c.930C>G (p.Arg310=)
c.1986C>G (p.Arg662=)
17g.42543935C>TCA500218588NAGLUc.1929C>T (p.Arg643=)
c.1267C>T (n.1267C>T)
c.1098C>T (p.Arg366=)
c.930C>T (p.Arg310=)
c.1986C>T (p.Arg662=)
17g.42543936T>ACA399605517NAGLUc.1930T>A (p.Tyr644Asn)
c.1268T>A (n.1268T>A)
c.1099T>A (p.Tyr367Asn)
c.931T>A (p.Tyr311Asn)
c.1987T>A (p.Tyr663Asn)
17g.42543936T>CCA399605518NAGLUc.1930T>C (p.Tyr644His)
c.1268T>C (n.1268T>C)
c.1099T>C (p.Tyr367His)
c.931T>C (p.Tyr311His)
c.1987T>C (p.Tyr663His)
17g.42543936T>GCA399605519NAGLUc.1930T>G (p.Tyr644Asp)
c.1268T>G (n.1268T>G)
c.1099T>G (p.Tyr367Asp)
c.931T>G (p.Tyr311Asp)
c.1987T>G (p.Tyr663Asp)
 ClinVar dbSNP
17g.42543937A=CA2260530531NAGLUc.1931A= (p.Tyr644=)
c.1269A= (n.1269A=)
c.1100A= (p.Tyr367=)
c.932A= (p.Tyr311=)
c.1988A= (p.Tyr663=)
17g.42543937A>CCA399605522NAGLUc.1931A>C (p.Tyr644Ser)
c.1269A>C (n.1269A>C)
c.1100A>C (p.Tyr367Ser)
c.932A>C (p.Tyr311Ser)
c.1988A>C (p.Tyr663Ser)
17g.42543937A>GCA399605524NAGLUc.1931A>G (p.Tyr644Cys)
c.1269A>G (n.1269A>G)
c.1100A>G (p.Tyr367Cys)
c.932A>G (p.Tyr311Cys)
c.1988A>G (p.Tyr663Cys)
 dbSNP gnomAD v2
17g.42543937A>TCA399605526NAGLUc.1931A>T (p.Tyr644Phe)
c.1269A>T (n.1269A>T)
c.1100A>T (p.Tyr367Phe)
c.932A>T (p.Tyr311Phe)
c.1988A>T (p.Tyr663Phe)
17g.42543938C>ACA399605529NAGLUc.1932C>A (p.Tyr644Ter)
c.1270C>A (n.1270C>A)
c.1101C>A (p.Tyr367Ter)
c.933C>A (p.Tyr311Ter)
c.1989C>A (p.Tyr663Ter)
 dbSNP
17g.42543938C=CA2260530532NAGLUc.1932C= (p.Tyr644=)
c.1270C= (n.1270C=)
c.1101C= (p.Tyr367=)
c.933C= (p.Tyr311=)
c.1989C= (p.Tyr663=)
17g.42543938C>GCA399605528NAGLUc.1932C>G (p.Tyr644Ter)
c.1270C>G (n.1270C>G)
c.1101C>G (p.Tyr367Ter)
c.933C>G (p.Tyr311Ter)
c.1989C>G (p.Tyr663Ter)
 ClinVar dbSNP
17g.42543938C>TCA500218614NAGLUc.1932C>T (p.Tyr644=)
c.1270C>T (n.1270C>T)
c.1101C>T (p.Tyr367=)
c.933C>T (p.Tyr311=)
c.1989C>T (p.Tyr663=)
 gnomAD v4
17g.42543939C>ACA399605530NAGLUc.1933C>A (p.Gln645Lys)
c.1271C>A (n.1271C>A)
c.1102C>A (p.Gln368Lys)
c.934C>A (p.Gln312Lys)
c.1990C>A (p.Gln664Lys)
17g.42543939C=CA2260530533NAGLUc.1933C= (p.Gln645=)
c.1271C= (n.1271C=)
c.1102C= (p.Gln368=)
c.934C= (p.Gln312=)
c.1990C= (p.Gln664=)
17g.42543939C>GCA399605532NAGLUc.1933C>G (p.Gln645Glu)
c.1271C>G (n.1271C>G)
c.1102C>G (p.Gln368Glu)
c.934C>G (p.Gln312Glu)
c.1990C>G (p.Gln664Glu)
17g.42543939C>TCA399605534NAGLUc.1933C>T (p.Gln645Ter)
c.1271C>T (n.1271C>T)
c.1102C>T (p.Gln368Ter)
c.934C>T (p.Gln312Ter)
c.1990C>T (p.Gln664Ter)
 dbSNP
17g.42543940A=CA2260530534NAGLUc.1934A= (p.Gln645=)
c.1272A= (n.1272A=)
c.1103A= (p.Gln368=)
c.935A= (p.Gln312=)
c.1991A= (p.Gln664=)
17g.42543940A>CCA8577124NAGLUc.1934A>C (p.Gln645Pro)
c.1272A>C (n.1272A>C)
c.1103A>C (p.Gln368Pro)
c.935A>C (p.Gln312Pro)
c.1991A>C (p.Gln664Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42543940A>GCA399605537NAGLUc.1934A>G (p.Gln645Arg)
c.1272A>G (n.1272A>G)
c.1103A>G (p.Gln368Arg)
c.935A>G (p.Gln312Arg)
c.1991A>G (p.Gln664Arg)
17g.42543940A>TCA399605539NAGLUc.1934A>T (p.Gln645Leu)
c.1272A>T (n.1272A>T)
c.1103A>T (p.Gln368Leu)
c.935A>T (p.Gln312Leu)
c.1991A>T (p.Gln664Leu)
 gnomAD v4
17g.42543941G>ACA500218632NAGLUc.1935G>A (p.Gln645=)
c.1273G>A (n.1273G>A)
c.1104G>A (p.Gln368=)
c.936G>A (p.Gln312=)
c.1992G>A (p.Gln664=)
 gnomAD v4
17g.42543941G>CCA399605541NAGLUc.1935G>C (p.Gln645His)
c.1273G>C (n.1273G>C)
c.1104G>C (p.Gln368His)
c.936G>C (p.Gln312His)
c.1992G>C (p.Gln664His)
 dbSNP
17g.42543941G=CA2260530535NAGLUc.1935G= (p.Gln645=)
c.1273G= (n.1273G=)
c.1104G= (p.Gln368=)
c.936G= (p.Gln312=)
c.1992G= (p.Gln664=)
17g.42543941G>TCA399605543NAGLUc.1935G>T (p.Gln645His)
c.1273G>T (n.1273G>T)
c.1104G>T (p.Gln368His)
c.936G>T (p.Gln312His)
c.1992G>T (p.Gln664His)
 gnomAD v4
17g.42543942C>ACA399605545NAGLUc.1936C>A (p.Leu646Met)
c.1274C>A (n.1274C>A)
c.1105C>A (p.Leu369Met)
c.937C>A (p.Leu313Met)
c.1993C>A (p.Leu665Met)
17g.42543942C>GCA399605546NAGLUc.1936C>G (p.Leu646Val)
c.1274C>G (n.1274C>G)
c.1105C>G (p.Leu369Val)
c.937C>G (p.Leu313Val)
c.1993C>G (p.Leu665Val)
 gnomAD v4
17g.42543942C>TCA500218641NAGLUc.1936C>T (p.Leu646=)
c.1274C>T (n.1274C>T)
c.1105C>T (p.Leu369=)
c.937C>T (p.Leu313=)
c.1993C>T (p.Leu665=)
17g.42543943T>ACA399605549NAGLUc.1937T>A (p.Leu646Gln)
c.1275T>A (n.1275T>A)
c.1106T>A (p.Leu369Gln)
c.938T>A (p.Leu313Gln)
c.1994T>A (p.Leu665Gln)
17g.42543943T>CCA399605550NAGLUc.1937T>C (p.Leu646Pro)
c.1275T>C (n.1275T>C)
c.1106T>C (p.Leu369Pro)
c.938T>C (p.Leu313Pro)
c.1994T>C (p.Leu665Pro)
17g.42543943T>GCA399605551NAGLUc.1937T>G (p.Leu646Arg)
c.1275T>G (n.1275T>G)
c.1106T>G (p.Leu369Arg)
c.938T>G (p.Leu313Arg)
c.1994T>G (p.Leu665Arg)
17g.42543944G>ACA500218652NAGLUc.1938G>A (p.Leu646=)
c.1276G>A (n.1276G>A)
c.1107G>A (p.Leu369=)
c.939G>A (p.Leu313=)
c.1995G>A (p.Leu665=)
 ClinVar dbSNP
17g.42543944G>CCA500218657NAGLUc.1938G>C (p.Leu646=)
c.1276G>C (n.1276G>C)
c.1107G>C (p.Leu369=)
c.939G>C (p.Leu313=)
c.1995G>C (p.Leu665=)
17g.42543944G=CA2260530536NAGLUc.1938G= (p.Leu646=)
c.1276G= (n.1276G=)
c.1107G= (p.Leu369=)
c.939G= (p.Leu313=)
c.1995G= (p.Leu665=)
17g.42543944G>TCA500218655NAGLUc.1938G>T (p.Leu646=)
c.1276G>T (n.1276G>T)
c.1107G>T (p.Leu369=)
c.939G>T (p.Leu313=)
c.1995G>T (p.Leu665=)
17g.42543945A>CCA399605555NAGLUc.1939A>C (p.Thr647Pro)
c.1277A>C (n.1277A>C)
c.1108A>C (p.Thr370Pro)
c.940A>C (p.Thr314Pro)
c.1996A>C (p.Thr666Pro)
17g.42543945A>GCA399605557NAGLUc.1939A>G (p.Thr647Ala)
c.1277A>G (n.1277A>G)
c.1108A>G (p.Thr370Ala)
c.940A>G (p.Thr314Ala)
c.1996A>G (p.Thr666Ala)
17g.42543945A>TCA399605553NAGLUc.1939A>T (p.Thr647Ser)
c.1277A>T (n.1277A>T)
c.1108A>T (p.Thr370Ser)
c.940A>T (p.Thr314Ser)
c.1996A>T (p.Thr666Ser)
17g.42543946C>ACA399605563NAGLUc.1940C>A (p.Thr647Asn)
c.1278C>A (n.1278C>A)
c.1109C>A (p.Thr370Asn)
c.941C>A (p.Thr314Asn)
c.1997C>A (p.Thr666Asn)
17g.42543946C=CA2260530537NAGLUc.1940C= (p.Thr647=)
c.1278C= (n.1278C=)
c.1109C= (p.Thr370=)
c.941C= (p.Thr314=)
c.1997C= (p.Thr666=)
17g.42543946C>GCA399605559NAGLUc.1940C>G (p.Thr647Ser)
c.1278C>G (n.1278C>G)
c.1109C>G (p.Thr370Ser)
c.941C>G (p.Thr314Ser)
c.1997C>G (p.Thr666Ser)
 gnomAD v4
17g.42543946C>TCA399605561NAGLUc.1940C>T (p.Thr647Ile)
c.1278C>T (n.1278C>T)
c.1109C>T (p.Thr370Ile)
c.941C>T (p.Thr314Ile)
c.1997C>T (p.Thr666Ile)
 ClinVar dbSNP gnomAD v2
17g.42543947C>ACA500218685NAGLUc.1941C>A (p.Thr647=)
c.1279C>A (n.1279C>A)
c.1110C>A (p.Thr370=)
c.942C>A (p.Thr314=)
c.1998C>A (p.Thr666=)
 ClinVar dbSNP gnomAD v4
17g.42543947C=CA2260530538NAGLUc.1941C= (p.Thr647=)
c.1279C= (n.1279C=)
c.1110C= (p.Thr370=)
c.942C= (p.Thr314=)
c.1998C= (p.Thr666=)
17g.42543947C>GCA500218680NAGLUc.1941C>G (p.Thr647=)
c.1279C>G (n.1279C>G)
c.1110C>G (p.Thr370=)
c.942C>G (p.Thr314=)
c.1998C>G (p.Thr666=)
17g.42543947C>TCA500218682NAGLUc.1941C>T (p.Thr647=)
c.1279C>T (n.1279C>T)
c.1110C>T (p.Thr370=)
c.942C>T (p.Thr314=)
c.1998C>T (p.Thr666=)
17g.42543948T>ACA399605565NAGLUc.1942T>A (p.Leu648Met)
c.1280T>A (n.1280T>A)
c.1111T>A (p.Leu371Met)
c.943T>A (p.Leu315Met)
c.1999T>A (p.Leu667Met)
17g.42543948T>CCA500218693NAGLUc.1942T>C (p.Leu648=)
c.1280T>C (n.1280T>C)
c.1111T>C (p.Leu371=)
c.943T>C (p.Leu315=)
c.1999T>C (p.Leu667=)
 ClinVar gnomAD v4
17g.42543948T>GCA399605567NAGLUc.1942T>G (p.Leu648Val)
c.1280T>G (n.1280T>G)
c.1111T>G (p.Leu371Val)
c.943T>G (p.Leu315Val)
c.1999T>G (p.Leu667Val)
 gnomAD v4
17g.42543949T>ACA399605569NAGLUc.1943T>A (p.Leu648Ter)
c.1281T>A (n.1281T>A)
c.1112T>A (p.Leu371Ter)
c.944T>A (p.Leu315Ter)
c.2000T>A (p.Leu667Ter)
17g.42543949T>CCA399605571NAGLUc.1943T>C (p.Leu648Ser)
c.1281T>C (n.1281T>C)
c.1112T>C (p.Leu371Ser)
c.944T>C (p.Leu315Ser)
c.2000T>C (p.Leu667Ser)
17g.42543949T>GCA399605573NAGLUc.1943T>G (p.Leu648Trp)
c.1281T>G (n.1281T>G)
c.1112T>G (p.Leu371Trp)
c.944T>G (p.Leu315Trp)
c.2000T>G (p.Leu667Trp)
17g.42543949T=CA2260530539NAGLUc.1943T= (p.Leu648=)
c.1281T= (n.1281T=)
c.1112T= (p.Leu371=)
c.944T= (p.Leu315=)
c.2000T= (p.Leu667=)
17g.42543950G>ACA500218701NAGLUc.1944G>A (p.Leu648=)
c.1282G>A (n.1282G>A)
c.1113G>A (p.Leu371=)
c.945G>A (p.Leu315=)
c.2001G>A (p.Leu667=)
 gnomAD v4
17g.42543950G>CCA399605575NAGLUc.1944G>C (p.Leu648Phe)
c.1282G>C (n.1282G>C)
c.1113G>C (p.Leu371Phe)
c.945G>C (p.Leu315Phe)
c.2001G>C (p.Leu667Phe)
17g.42543950G>TCA399605577NAGLUc.1944G>T (p.Leu648Phe)
c.1282G>T (n.1282G>T)
c.1113G>T (p.Leu371Phe)
c.945G>T (p.Leu315Phe)
c.2001G>T (p.Leu667Phe)
17g.42543950dupCA10588946NAGLUc.1944dup (p.Trp649ValfsTer?)
c.1282dup (n.1282dup)
c.1113dup (p.Trp372ValfsTer?)
c.945dup (p.Trp316ValfsTer?)
c.2001dup (p.Trp668ValfsTer?)
 ClinVar dbSNP
17g.42543951_42543953delCA2576276094NAGLUc.1945_1947del (p.Trp649del)
c.1283_1285del (n.1283_1285del)
c.1114_1116del (p.Trp372del)
c.946_948del (p.Trp316del)
c.2002_2004del (p.Trp668del)
17g.42543951T>ACA399605579NAGLUc.1945T>A (p.Trp649Arg)
c.1283T>A (n.1283T>A)
c.1114T>A (p.Trp372Arg)
c.946T>A (p.Trp316Arg)
c.2002T>A (p.Trp668Arg)
17g.42543951T>CCA399605580NAGLUc.1945T>C (p.Trp649Arg)
c.1283T>C (n.1283T>C)
c.1114T>C (p.Trp372Arg)
c.946T>C (p.Trp316Arg)
c.2002T>C (p.Trp668Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42543951T>GCA399605581NAGLUc.1945T>G (p.Trp649Gly)
c.1283T>G (n.1283T>G)
c.1114T>G (p.Trp372Gly)
c.946T>G (p.Trp316Gly)
c.2002T>G (p.Trp668Gly)
 gnomAD v4
17g.42543951T=CA2260530540NAGLUc.1945T= (p.Trp649=)
c.1283T= (n.1283T=)
c.1114T= (p.Trp372=)
c.946T= (p.Trp316=)
c.2002T= (p.Trp668=)
17g.42543951dupCA2637976274NAGLUc.1945dup (p.Trp649LeufsTer?)
c.1283dup (n.1283dup)
c.1114dup (p.Trp372LeufsTer?)
c.946dup (p.Trp316LeufsTer?)
c.2002dup (p.Trp668LeufsTer?)
 gnomAD v4
17g.42543952G>ACA399605584NAGLUc.1946G>A (p.Trp649Ter)
c.1284G>A (n.1284G>A)
c.1115G>A (p.Trp372Ter)
c.947G>A (p.Trp316Ter)
c.2003G>A (p.Trp668Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42543952G>CCA8577125NAGLUc.1946G>C (p.Trp649Ser)
c.1284G>C (n.1284G>C)
c.1115G>C (p.Trp372Ser)
c.947G>C (p.Trp316Ser)
c.2003G>C (p.Trp668Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42543952G=CA2260530541NAGLUc.1946G= (p.Trp649=)
c.1284G= (n.1284G=)
c.1115G= (p.Trp372=)
c.947G= (p.Trp316=)
c.2003G= (p.Trp668=)
17g.42543952G>TCA170085NAGLUc.1946G>T (p.Trp649Leu)
c.1284G>T (n.1284G>T)
c.1115G>T (p.Trp372Leu)
c.947G>T (p.Trp316Leu)
c.2003G>T (p.Trp668Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42543953G>ACA399605587NAGLUc.1947G>A (p.Trp649Ter)
c.1285G>A (n.1285G>A)
c.1116G>A (p.Trp372Ter)
c.948G>A (p.Trp316Ter)
c.2004G>A (p.Trp668Ter)
17g.42543953G>CCA399605589NAGLUc.1947G>C (p.Trp649Cys)
c.1285G>C (n.1285G>C)
c.1116G>C (p.Trp372Cys)
c.948G>C (p.Trp316Cys)
c.2004G>C (p.Trp668Cys)
 gnomAD v4
17g.42543953G>TCA399605590NAGLUc.1947G>T (p.Trp649Cys)
c.1285G>T (n.1285G>T)
c.1116G>T (p.Trp372Cys)
c.948G>T (p.Trp316Cys)
c.2004G>T (p.Trp668Cys)
17g.42543954G>ACA399605591NAGLUc.1948G>A (p.Gly650Arg)
c.1286G>A (n.1286G>A)
c.1117G>A (p.Gly373Arg)
c.949G>A (p.Gly317Arg)
c.2005G>A (p.Gly669Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42543954G>CCA399605592NAGLUc.1948G>C (p.Gly650Arg)
c.1286G>C (n.1286G>C)
c.1117G>C (p.Gly373Arg)
c.949G>C (p.Gly317Arg)
c.2005G>C (p.Gly669Arg)
17g.42543954G=CA2260530542NAGLUc.1948G= (p.Gly650=)
c.1286G= (n.1286G=)
c.1117G= (p.Gly373=)
c.949G= (p.Gly317=)
c.2005G= (p.Gly669=)
17g.42543954G>TCA399605594NAGLUc.1948G>T (p.Gly650Trp)
c.1286G>T (n.1286G>T)
c.1117G>T (p.Gly373Trp)
c.949G>T (p.Gly317Trp)
c.2005G>T (p.Gly669Trp)
17g.42543956_42543964delCA2637976277NAGLUc.1950_1958del (p.Pro651_Gly653del)
c.1288_1296del (n.1288_1296del)
c.1119_1127del (p.Pro374_Gly376del)
c.951_959del (p.Pro318_Gly320del)
c.2007_2015del (p.Pro670_Gly672del)
 gnomAD v4

Number of alleles fetched