Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.42543410G>ACA500216930NAGLUc.1404G>A (p.Val468=)
c.742G>A (n.742G>A)
c.443G>A
c.573G>A (p.Val191=)
c.405G>A (p.Val135=)
c.1461G>A (p.Val487=)
17g.42543410G>CCA500216931NAGLUc.1404G>C (p.Val468=)
c.742G>C (n.742G>C)
c.443G>C
c.573G>C (p.Val191=)
c.405G>C (p.Val135=)
c.1461G>C (p.Val487=)
17g.42543410G>TCA500216929NAGLUc.1404G>T (p.Val468=)
c.742G>T (n.742G>T)
c.443G>T
c.573G>T (p.Val191=)
c.405G>T (p.Val135=)
c.1461G>T (p.Val487=)
 gnomAD v4
17g.42543411C>ACA399602337NAGLUc.1405C>A (p.Pro469Thr)
c.743C>A (n.743C>A)
c.444C>A
c.574C>A (p.Pro192Thr)
c.406C>A (p.Pro136Thr)
c.1462C>A (p.Pro488Thr)
 gnomAD v4
17g.42543411C=CA2260530257NAGLUc.1405C= (p.Pro469=)
c.743C= (n.743C=)
c.444C=
c.574C= (p.Pro192=)
c.406C= (p.Pro136=)
c.1462C= (p.Pro488=)
17g.42543411C>GCA290780463NAGLUc.1405C>G (p.Pro469Ala)
c.743C>G (n.743C>G)
c.444C>G
c.574C>G (p.Pro192Ala)
c.406C>G (p.Pro136Ala)
c.1462C>G (p.Pro488Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42543411C>TCA399602341NAGLUc.1405C>T (p.Pro469Ser)
c.743C>T (n.743C>T)
c.444C>T
c.574C>T (p.Pro192Ser)
c.406C>T (p.Pro136Ser)
c.1462C>T (p.Pro488Ser)
 gnomAD v4
17g.42543412C>ACA399602346NAGLUc.1406C>A (p.Pro469Gln)
c.744C>A (n.744C>A)
c.445C>A
c.575C>A (p.Pro192Gln)
c.407C>A (p.Pro136Gln)
c.1463C>A (p.Pro488Gln)
17g.42543412C=CA2260530258NAGLUc.1406C= (p.Pro469=)
c.744C= (n.744C=)
c.445C=
c.575C= (p.Pro192=)
c.407C= (p.Pro136=)
c.1463C= (p.Pro488=)
17g.42543412C>GCA399602348NAGLUc.1406C>G (p.Pro469Arg)
c.744C>G (n.744C>G)
c.445C>G
c.575C>G (p.Pro192Arg)
c.407C>G (p.Pro136Arg)
c.1463C>G (p.Pro488Arg)
17g.42543412C>TCA399602351NAGLUc.1406C>T (p.Pro469Leu)
c.744C>T (n.744C>T)
c.445C>T
c.575C>T (p.Pro192Leu)
c.407C>T (p.Pro136Leu)
c.1463C>T (p.Pro488Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42543413A=CA2260530259NAGLUc.1407A= (p.Pro469=)
c.745A= (n.745A=)
c.446A=
c.576A= (p.Pro192=)
c.408A= (p.Pro136=)
c.1464A= (p.Pro488=)
17g.42543413A>CCA500216933NAGLUc.1407A>C (p.Pro469=)
c.745A>C (n.745A>C)
c.446A>C
c.576A>C (p.Pro192=)
c.408A>C (p.Pro136=)
c.1464A>C (p.Pro488=)
17g.42543413A>GCA500216932NAGLUc.1407A>G (p.Pro469=)
c.745A>G (n.745A>G)
c.446A>G
c.576A>G (p.Pro192=)
c.408A>G (p.Pro136=)
c.1464A>G (p.Pro488=)
 ClinVar dbSNP gnomAD v4
17g.42543413A>TCA500216934NAGLUc.1407A>T (p.Pro469=)
c.745A>T (n.745A>T)
c.446A>T
c.576A>T (p.Pro192=)
c.408A>T (p.Pro136=)
c.1464A>T (p.Pro488=)
 gnomAD v4
17g.42543414G>ACA399602357NAGLUc.1408G>A (p.Asp470Asn)
c.746G>A (n.746G>A)
c.447G>A
c.577G>A (p.Asp193Asn)
c.409G>A (p.Asp137Asn)
c.1465G>A (p.Asp489Asn)
17g.42543414G>CCA399602360NAGLUc.1408G>C (p.Asp470His)
c.746G>C (n.746G>C)
c.447G>C
c.577G>C (p.Asp193His)
c.409G>C (p.Asp137His)
c.1465G>C (p.Asp489His)
17g.42543414G>TCA399602361NAGLUc.1408G>T (p.Asp470Tyr)
c.746G>T (n.746G>T)
c.447G>T
c.577G>T (p.Asp193Tyr)
c.409G>T (p.Asp137Tyr)
c.1465G>T (p.Asp489Tyr)
 gnomAD v4
17g.42543415A=CA2260530260NAGLUc.1409A= (p.Asp470=)
c.747A= (n.747A=)
c.448A=
c.578A= (p.Asp193=)
c.410A= (p.Asp137=)
c.1466A= (p.Asp489=)
17g.42543415A>CCA399602362NAGLUc.1409A>C (p.Asp470Ala)
c.747A>C (n.747A>C)
c.448A>C
c.578A>C (p.Asp193Ala)
c.410A>C (p.Asp137Ala)
c.1466A>C (p.Asp489Ala)
17g.42543415A>GCA399602363NAGLUc.1409A>G (p.Asp470Gly)
c.747A>G (n.747A>G)
c.448A>G
c.578A>G (p.Asp193Gly)
c.410A>G (p.Asp137Gly)
c.1466A>G (p.Asp489Gly)
 dbSNP
17g.42543415A>TCA399602364NAGLUc.1409A>T (p.Asp470Val)
c.747A>T (n.747A>T)
c.448A>T
c.578A>T (p.Asp193Val)
c.410A>T (p.Asp137Val)
c.1466A>T (p.Asp489Val)
 ClinVar
17g.42543416T>ACA399602368NAGLUc.1410T>A (p.Asp470Glu)
c.748T>A (n.748T>A)
c.449T>A
c.579T>A (p.Asp193Glu)
c.411T>A (p.Asp137Glu)
c.1467T>A (p.Asp489Glu)
17g.42543416T>CCA500216935NAGLUc.1410T>C (p.Asp470=)
c.748T>C (n.748T>C)
c.449T>C
c.579T>C (p.Asp193=)
c.411T>C (p.Asp137=)
c.1467T>C (p.Asp489=)
 gnomAD v4
17g.42543416T>GCA399602366NAGLUc.1410T>G (p.Asp470Glu)
c.748T>G (n.748T>G)
c.449T>G
c.579T>G (p.Asp193Glu)
c.411T>G (p.Asp137Glu)
c.1467T>G (p.Asp489Glu)
17g.42543417T>ACA399602373NAGLUc.1411T>A (p.Leu471Met)
c.749T>A (n.749T>A)
c.450T>A
c.580T>A (p.Leu194Met)
c.412T>A (p.Leu138Met)
c.1468T>A (p.Leu490Met)
17g.42543417T>CCA500216936NAGLUc.1411T>C (p.Leu471=)
c.749T>C (n.749T>C)
c.450T>C
c.580T>C (p.Leu194=)
c.412T>C (p.Leu138=)
c.1468T>C (p.Leu490=)
17g.42543417T>GCA399602375NAGLUc.1411T>G (p.Leu471Val)
c.749T>G (n.749T>G)
c.450T>G
c.580T>G (p.Leu194Val)
c.412T>G (p.Leu138Val)
c.1468T>G (p.Leu490Val)
17g.42543418T>ACA399602378NAGLUc.1412T>A (p.Leu471Ter)
c.750T>A (n.750T>A)
c.451T>A
c.581T>A (p.Leu194Ter)
c.413T>A (p.Leu138Ter)
c.1469T>A (p.Leu490Ter)
 gnomAD v4
17g.42543418T>CCA399602381NAGLUc.1412T>C (p.Leu471Ser)
c.750T>C (n.750T>C)
c.451T>C
c.581T>C (p.Leu194Ser)
c.413T>C (p.Leu138Ser)
c.1469T>C (p.Leu490Ser)
17g.42543418T>GCA399602383NAGLUc.1412T>G (p.Leu471Trp)
c.750T>G (n.750T>G)
c.451T>G
c.581T>G (p.Leu194Trp)
c.413T>G (p.Leu138Trp)
c.1469T>G (p.Leu490Trp)
17g.42543419G>ACA500216937NAGLUc.1413G>A (p.Leu471=)
c.751G>A (n.751G>A)
c.452G>A
c.582G>A (p.Leu194=)
c.414G>A (p.Leu138=)
c.1470G>A (p.Leu490=)
17g.42543419G>CCA399602385NAGLUc.1413G>C (p.Leu471Phe)
c.751G>C (n.751G>C)
c.452G>C
c.582G>C (p.Leu194Phe)
c.414G>C (p.Leu138Phe)
c.1470G>C (p.Leu490Phe)
17g.42543419G>TCA399602388NAGLUc.1413G>T (p.Leu471Phe)
c.751G>T (n.751G>T)
c.452G>T
c.582G>T (p.Leu194Phe)
c.414G>T (p.Leu138Phe)
c.1470G>T (p.Leu490Phe)
 gnomAD v4
17g.42543420G>ACA399602392NAGLUc.1414G>A (p.Ala472Thr)
c.752G>A (n.752G>A)
c.453G>A
c.583G>A (p.Ala195Thr)
c.415G>A (p.Ala139Thr)
c.1471G>A (p.Ala491Thr)
 gnomAD v4
17g.42543420G>CCA399602394NAGLUc.1414G>C (p.Ala472Pro)
c.752G>C (n.752G>C)
c.453G>C
c.583G>C (p.Ala195Pro)
c.415G>C (p.Ala139Pro)
c.1471G>C (p.Ala491Pro)
17g.42543420G>TCA399602398NAGLUc.1414G>T (p.Ala472Ser)
c.752G>T (n.752G>T)
c.453G>T
c.583G>T (p.Ala195Ser)
c.415G>T (p.Ala139Ser)
c.1471G>T (p.Ala491Ser)
 gnomAD v4
17g.42543421C>ACA399602403NAGLUc.1415C>A (p.Ala472Glu)
c.753C>A (n.753C>A)
c.454C>A
c.584C>A (p.Ala195Glu)
c.416C>A (p.Ala139Glu)
c.1472C>A (p.Ala491Glu)
 gnomAD v4
17g.42543421C=CA2260530261NAGLUc.1415C= (p.Ala472=)
c.753C= (n.753C=)
c.454C=
c.584C= (p.Ala195=)
c.416C= (p.Ala139=)
c.1472C= (p.Ala491=)
17g.42543421C>GCA399602405NAGLUc.1415C>G (p.Ala472Gly)
c.753C>G (n.753C>G)
c.454C>G
c.584C>G (p.Ala195Gly)
c.416C>G (p.Ala139Gly)
c.1472C>G (p.Ala491Gly)
 gnomAD v4
17g.42543421C>TCA290780471NAGLUc.1415C>T (p.Ala472Val)
c.753C>T (n.753C>T)
c.454C>T
c.584C>T (p.Ala195Val)
c.416C>T (p.Ala139Val)
c.1472C>T (p.Ala491Val)
 dbSNP gnomAD v4
17g.42543422A=CA2260530262NAGLUc.1416A= (p.Ala472=)
c.754A= (n.754A=)
c.455A=
c.585A= (p.Ala195=)
c.417A= (p.Ala139=)
c.1473A= (p.Ala491=)
17g.42543422A>CCA500216939NAGLUc.1416A>C (p.Ala472=)
c.754A>C (n.754A>C)
c.455A>C
c.585A>C (p.Ala195=)
c.417A>C (p.Ala139=)
c.1473A>C (p.Ala491=)
17g.42543422A>GCA500216940NAGLUc.1416A>G (p.Ala472=)
c.754A>G (n.754A>G)
c.455A>G
c.585A>G (p.Ala195=)
c.417A>G (p.Ala139=)
c.1473A>G (p.Ala491=)
 dbSNP
17g.42543422A>TCA500216938NAGLUc.1416A>T (p.Ala472=)
c.754A>T (n.754A>T)
c.455A>T
c.585A>T (p.Ala195=)
c.417A>T (p.Ala139=)
c.1473A>T (p.Ala491=)
17g.42543423G>ACA399602414NAGLUc.1417G>A (p.Ala473Thr)
c.755G>A (n.755G>A)
c.456G>A
c.586G>A (p.Ala196Thr)
c.418G>A (p.Ala140Thr)
c.1474G>A (p.Ala492Thr)
 gnomAD v4
17g.42543423G>CCA399602418NAGLUc.1417G>C (p.Ala473Pro)
c.755G>C (n.755G>C)
c.456G>C
c.586G>C (p.Ala196Pro)
c.418G>C (p.Ala140Pro)
c.1474G>C (p.Ala492Pro)
17g.42543423G>TCA399602412NAGLUc.1417G>T (p.Ala473Ser)
c.755G>T (n.755G>T)
c.456G>T
c.586G>T (p.Ala196Ser)
c.418G>T (p.Ala140Ser)
c.1474G>T (p.Ala492Ser)
 gnomAD v4
17g.42543423_42543424delCA2576276092NAGLUc.1417_1418del (p.Ala473LeufsTer?)
c.755_756del (n.755_756del)
c.456_457del
c.586_587del (p.Ala196LeufsTer?)
c.418_419del (p.Ala140LeufsTer?)
c.1474_1475del (p.Ala492LeufsTer?)
17g.42543424C>ACA399602427NAGLUc.1418C>A (p.Ala473Asp)
c.756C>A (n.756C>A)
c.457C>A
c.587C>A (p.Ala196Asp)
c.419C>A (p.Ala140Asp)
c.1475C>A (p.Ala492Asp)
 gnomAD v4
17g.42543424C>GCA399602423NAGLUc.1418C>G (p.Ala473Gly)
c.756C>G (n.756C>G)
c.457C>G
c.587C>G (p.Ala196Gly)
c.419C>G (p.Ala140Gly)
c.1475C>G (p.Ala492Gly)
17g.42543424C>TCA399602428NAGLUc.1418C>T (p.Ala473Val)
c.756C>T (n.756C>T)
c.457C>T
c.587C>T (p.Ala196Val)
c.419C>T (p.Ala140Val)
c.1475C>T (p.Ala492Val)
 gnomAD v4
17g.42543425C>ACA500216941NAGLUc.1419C>A (p.Ala473=)
c.757C>A (n.757C>A)
c.458C>A
c.588C>A (p.Ala196=)
c.420C>A (p.Ala140=)
c.1476C>A (p.Ala492=)
 gnomAD v4
17g.42543425C>GCA500216942NAGLUc.1419C>G (p.Ala473=)
c.757C>G (n.757C>G)
c.458C>G
c.588C>G (p.Ala196=)
c.420C>G (p.Ala140=)
c.1476C>G (p.Ala492=)
17g.42543425C>TCA500216943NAGLUc.1419C>T (p.Ala473=)
c.757C>T (n.757C>T)
c.458C>T
c.588C>T (p.Ala196=)
c.420C>T (p.Ala140=)
c.1476C>T (p.Ala492=)
17g.42543426T>ACA399602432NAGLUc.1420T>A (p.Trp474Arg)
c.758T>A (n.758T>A)
c.459T>A
c.589T>A (p.Trp197Arg)
c.421T>A (p.Trp141Arg)
c.1477T>A (p.Trp493Arg)
17g.42543426T>CCA399602434NAGLUc.1420T>C (p.Trp474Arg)
c.758T>C (n.758T>C)
c.459T>C
c.589T>C (p.Trp197Arg)
c.421T>C (p.Trp141Arg)
c.1477T>C (p.Trp493Arg)
17g.42543426T>GCA399602436NAGLUc.1420T>G (p.Trp474Gly)
c.758T>G (n.758T>G)
c.459T>G
c.589T>G (p.Trp197Gly)
c.421T>G (p.Trp141Gly)
c.1477T>G (p.Trp493Gly)
 gnomAD v4
17g.42543427G>ACA399602439NAGLUc.1421G>A (p.Trp474Ter)
c.759G>A (n.759G>A)
c.460G>A
c.590G>A (p.Trp197Ter)
c.422G>A (p.Trp141Ter)
c.1478G>A (p.Trp493Ter)
 ClinVar dbSNP
17g.42543427G>CCA399602440NAGLUc.1421G>C (p.Trp474Ser)
c.759G>C (n.759G>C)
c.460G>C
c.590G>C (p.Trp197Ser)
c.422G>C (p.Trp141Ser)
c.1478G>C (p.Trp493Ser)
17g.42543427G=CA2260530263NAGLUc.1421G= (p.Trp474=)
c.759G= (n.759G=)
c.460G=
c.590G= (p.Trp197=)
c.422G= (p.Trp141=)
c.1478G= (p.Trp493=)
17g.42543427G>TCA399602442NAGLUc.1421G>T (p.Trp474Leu)
c.759G>T (n.759G>T)
c.460G>T
c.590G>T (p.Trp197Leu)
c.422G>T (p.Trp141Leu)
c.1478G>T (p.Trp493Leu)
 gnomAD v4
17g.42543428G>ACA399602446NAGLUc.1422G>A (p.Trp474Ter)
c.760G>A (n.760G>A)
c.461G>A
c.591G>A (p.Trp197Ter)
c.423G>A (p.Trp141Ter)
c.1479G>A (p.Trp493Ter)
 gnomAD v4
17g.42543428G>CCA399602448NAGLUc.1422G>C (p.Trp474Cys)
c.760G>C (n.760G>C)
c.461G>C
c.591G>C (p.Trp197Cys)
c.423G>C (p.Trp141Cys)
c.1479G>C (p.Trp493Cys)
17g.42543428G>TCA399602449NAGLUc.1422G>T (p.Trp474Cys)
c.760G>T (n.760G>T)
c.461G>T
c.591G>T (p.Trp197Cys)
c.423G>T (p.Trp141Cys)
c.1479G>T (p.Trp493Cys)
 gnomAD v4
17g.42543429G>ACA399602453NAGLUc.1423G>A (p.Val475Met)
c.761G>A (n.761G>A)
c.462G>A
c.592G>A (p.Val198Met)
c.424G>A (p.Val142Met)
c.1480G>A (p.Val494Met)
 gnomAD v4
17g.42543429G>CCA399602456NAGLUc.1423G>C (p.Val475Leu)
c.761G>C (n.761G>C)
c.462G>C
c.592G>C (p.Val198Leu)
c.424G>C (p.Val142Leu)
c.1480G>C (p.Val494Leu)
17g.42543429G>TCA399602458NAGLUc.1423G>T (p.Val475Leu)
c.761G>T (n.761G>T)
c.462G>T
c.592G>T (p.Val198Leu)
c.424G>T (p.Val142Leu)
c.1480G>T (p.Val494Leu)
17g.42543430_42543431delCA913012290NAGLUc.1424_1425del (p.Val475AspfsTer?)
c.762_763del (n.762_763del)
c.463_464del
c.593_594del (p.Val198AspfsTer?)
c.425_426del (p.Val142AspfsTer?)
c.1481_1482del (p.Val494AspfsTer?)
17g.42543430T>ACA399602467NAGLUc.1424T>A (p.Val475Glu)
c.762T>A (n.762T>A)
c.463T>A
c.593T>A (p.Val198Glu)
c.425T>A (p.Val142Glu)
c.1481T>A (p.Val494Glu)
17g.42543430T>CCA399602462NAGLUc.1424T>C (p.Val475Ala)
c.762T>C (n.762T>C)
c.463T>C
c.593T>C (p.Val198Ala)
c.425T>C (p.Val142Ala)
c.1481T>C (p.Val494Ala)
17g.42543430T>GCA399602464NAGLUc.1424T>G (p.Val475Gly)
c.762T>G (n.762T>G)
c.463T>G
c.593T>G (p.Val198Gly)
c.425T>G (p.Val142Gly)
c.1481T>G (p.Val494Gly)
 dbSNP
17g.42543430T=CA2260530265NAGLUc.1424T= (p.Val475=)
c.762T= (n.762T=)
c.463T=
c.593T= (p.Val198=)
c.425T= (p.Val142=)
c.1481T= (p.Val494=)
17g.42543430_42543431delinsTGCA2260530264NAGLUc.1424_1425delinsTG (p.Val475=)
c.762_763delinsTG (n.762_763delinsTG)
c.463_464delinsTG
c.593_594delinsTG (p.Val198=)
c.425_426delinsTG (p.Val142=)
c.1481_1482delinsTG (p.Val494=)
17g.42543431delCA626218622NAGLUc.1425del (p.Thr476ProfsTer?)
c.763del (n.763del)
c.464del
c.594del (p.Thr199ProfsTer?)
c.426del (p.Thr143ProfsTer?)
c.1482del (p.Thr495ProfsTer?)
 ClinVar dbSNP gnomAD v2
17g.42543431G>ACA500216946NAGLUc.1425G>A (p.Val475=)
c.763G>A (n.763G>A)
c.464G>A
c.594G>A (p.Val198=)
c.426G>A (p.Val142=)
c.1482G>A (p.Val494=)
 dbSNP
17g.42543431G>CCA500216944NAGLUc.1425G>C (p.Val475=)
c.763G>C (n.763G>C)
c.464G>C
c.594G>C (p.Val198=)
c.426G>C (p.Val142=)
c.1482G>C (p.Val494=)
 gnomAD v4
17g.42543431G=CA2260530266NAGLUc.1425G= (p.Val475=)
c.763G= (n.763G=)
c.464G=
c.594G= (p.Val198=)
c.426G= (p.Val142=)
c.1482G= (p.Val494=)
17g.42543431G>TCA500216945NAGLUc.1425G>T (p.Val475=)
c.763G>T (n.763G>T)
c.464G>T
c.594G>T (p.Val198=)
c.426G>T (p.Val142=)
c.1482G>T (p.Val494=)
 gnomAD v4
17g.42543432A>CCA399602470NAGLUc.1426A>C (p.Thr476Pro)
c.764A>C (n.764A>C)
c.465A>C
c.595A>C (p.Thr199Pro)
c.427A>C (p.Thr143Pro)
c.1483A>C (p.Thr495Pro)
17g.42543432A>GCA399602472NAGLUc.1426A>G (p.Thr476Ala)
c.764A>G (n.764A>G)
c.465A>G
c.595A>G (p.Thr199Ala)
c.427A>G (p.Thr143Ala)
c.1483A>G (p.Thr495Ala)
 gnomAD v4
17g.42543432A>TCA399602475NAGLUc.1426A>T (p.Thr476Ser)
c.764A>T (n.764A>T)
c.465A>T
c.595A>T (p.Thr199Ser)
c.427A>T (p.Thr143Ser)
c.1483A>T (p.Thr495Ser)
 gnomAD v4
17g.42543433C>ACA399602478NAGLUc.1427C>A (p.Thr476Asn)
c.765C>A (n.765C>A)
c.466C>A
c.596C>A (p.Thr199Asn)
c.428C>A (p.Thr143Asn)
c.1484C>A (p.Thr495Asn)
17g.42543433C>GCA399602479NAGLUc.1427C>G (p.Thr476Ser)
c.765C>G (n.765C>G)
c.466C>G
c.596C>G (p.Thr199Ser)
c.428C>G (p.Thr143Ser)
c.1484C>G (p.Thr495Ser)
17g.42543433C>TCA399602481NAGLUc.1427C>T (p.Thr476Ile)
c.765C>T (n.765C>T)
c.466C>T
c.596C>T (p.Thr199Ile)
c.428C>T (p.Thr143Ile)
c.1484C>T (p.Thr495Ile)
17g.42543434C>ACA500216948NAGLUc.1428C>A (p.Thr476=)
c.766C>A (n.766C>A)
c.467C>A
c.597C>A (p.Thr199=)
c.429C>A (p.Thr143=)
c.1485C>A (p.Thr495=)
17g.42543434C>GCA500216949NAGLUc.1428C>G (p.Thr476=)
c.766C>G (n.766C>G)
c.467C>G
c.597C>G (p.Thr199=)
c.429C>G (p.Thr143=)
c.1485C>G (p.Thr495=)
17g.42543434C>TCA500216947NAGLUc.1428C>T (p.Thr476=)
c.766C>T (n.766C>T)
c.467C>T
c.597C>T (p.Thr199=)
c.429C>T (p.Thr143=)
c.1485C>T (p.Thr495=)
 gnomAD v4
17g.42543435A=CA2260530267NAGLUc.1429A= (p.Ser477=)
c.767A= (n.767A=)
c.468A=
c.598A= (p.Ser200=)
c.430A= (p.Ser144=)
c.1486A= (p.Ser496=)
17g.42543435A>CCA399602484NAGLUc.1429A>C (p.Ser477Arg)
c.767A>C (n.767A>C)
c.468A>C
c.598A>C (p.Ser200Arg)
c.430A>C (p.Ser144Arg)
c.1486A>C (p.Ser496Arg)
 gnomAD v4
17g.42543435A>GCA399602485NAGLUc.1429A>G (p.Ser477Gly)
c.767A>G (n.767A>G)
c.468A>G
c.598A>G (p.Ser200Gly)
c.430A>G (p.Ser144Gly)
c.1486A>G (p.Ser496Gly)
 dbSNP gnomAD v2 gnomAD v4
17g.42543435A>TCA399602487NAGLUc.1429A>T (p.Ser477Cys)
c.767A>T (n.767A>T)
c.468A>T
c.598A>T (p.Ser200Cys)
c.430A>T (p.Ser144Cys)
c.1486A>T (p.Ser496Cys)
17g.42543436G>ACA399602489NAGLUc.1430G>A (p.Ser477Asn)
c.768G>A (n.768G>A)
c.469G>A
c.599G>A (p.Ser200Asn)
c.431G>A (p.Ser144Asn)
c.1487G>A (p.Ser496Asn)
 gnomAD v4
17g.42543436G>CCA8577016NAGLUc.1430G>C (p.Ser477Thr)
c.768G>C (n.768G>C)
c.469G>C
c.599G>C (p.Ser200Thr)
c.431G>C (p.Ser144Thr)
c.1487G>C (p.Ser496Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543436G=CA2260530268NAGLUc.1430G= (p.Ser477=)
c.768G= (n.768G=)
c.469G=
c.599G= (p.Ser200=)
c.431G= (p.Ser144=)
c.1487G= (p.Ser496=)
17g.42543436G>TCA399602491NAGLUc.1430G>T (p.Ser477Ile)
c.768G>T (n.768G>T)
c.469G>T
c.599G>T (p.Ser200Ile)
c.431G>T (p.Ser144Ile)
c.1487G>T (p.Ser496Ile)
 gnomAD v4
17g.42543437C>ACA399602496NAGLUc.1431C>A (p.Ser477Arg)
c.769C>A (n.769C>A)
c.470C>A
c.600C>A (p.Ser200Arg)
c.432C>A (p.Ser144Arg)
c.1488C>A (p.Ser496Arg)
 gnomAD v4
17g.42543437C>GCA399602494NAGLUc.1431C>G (p.Ser477Arg)
c.769C>G (n.769C>G)
c.470C>G
c.600C>G (p.Ser200Arg)
c.432C>G (p.Ser144Arg)
c.1488C>G (p.Ser496Arg)
17g.42543437C>TCA500216950NAGLUc.1431C>T (p.Ser477=)
c.769C>T (n.769C>T)
c.470C>T
c.600C>T (p.Ser200=)
c.432C>T (p.Ser144=)
c.1488C>T (p.Ser496=)
 ClinVar gnomAD v4
17g.42543438T>ACA399602498NAGLUc.1432T>A (p.Phe478Ile)
c.770T>A (n.770T>A)
c.471T>A
c.601T>A (p.Phe201Ile)
c.433T>A (p.Phe145Ile)
c.1489T>A (p.Phe497Ile)
17g.42543438T>CCA399602499NAGLUc.1432T>C (p.Phe478Leu)
c.770T>C (n.770T>C)
c.471T>C
c.601T>C (p.Phe201Leu)
c.433T>C (p.Phe145Leu)
c.1489T>C (p.Phe497Leu)
17g.42543438T>GCA399602501NAGLUc.1432T>G (p.Phe478Val)
c.770T>G (n.770T>G)
c.471T>G
c.601T>G (p.Phe201Val)
c.433T>G (p.Phe145Val)
c.1489T>G (p.Phe497Val)
17g.42543439T>ACA399602504NAGLUc.1433T>A (p.Phe478Tyr)
c.771T>A (n.771T>A)
c.472T>A
c.602T>A (p.Phe201Tyr)
c.434T>A (p.Phe145Tyr)
c.1490T>A (p.Phe497Tyr)
17g.42543439T>CCA399602505NAGLUc.1433T>C (p.Phe478Ser)
c.771T>C (n.771T>C)
c.472T>C
c.602T>C (p.Phe201Ser)
c.434T>C (p.Phe145Ser)
c.1490T>C (p.Phe497Ser)
17g.42543439T>GCA399602506NAGLUc.1433T>G (p.Phe478Cys)
c.771T>G (n.771T>G)
c.472T>G
c.602T>G (p.Phe201Cys)
c.434T>G (p.Phe145Cys)
c.1490T>G (p.Phe497Cys)
17g.42543440T>ACA399602507NAGLUc.1434T>A (p.Phe478Leu)
c.772T>A (n.772T>A)
c.473T>A
c.603T>A (p.Phe201Leu)
c.435T>A (p.Phe145Leu)
c.1491T>A (p.Phe497Leu)
17g.42543440T>CCA500216951NAGLUc.1434T>C (p.Phe478=)
c.772T>C (n.772T>C)
c.473T>C
c.603T>C (p.Phe201=)
c.435T>C (p.Phe145=)
c.1491T>C (p.Phe497=)
17g.42543440T>GCA399602508NAGLUc.1434T>G (p.Phe478Leu)
c.772T>G (n.772T>G)
c.473T>G
c.603T>G (p.Phe201Leu)
c.435T>G (p.Phe145Leu)
c.1491T>G (p.Phe497Leu)
17g.42543441G>ACA8577017NAGLUc.1435G>A (p.Ala479Thr)
c.773G>A (n.773G>A)
c.474G>A
c.604G>A (p.Ala202Thr)
c.436G>A (p.Ala146Thr)
c.1492G>A (p.Ala498Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543441G>CCA399602509NAGLUc.1435G>C (p.Ala479Pro)
c.773G>C (n.773G>C)
c.474G>C
c.604G>C (p.Ala202Pro)
c.436G>C (p.Ala146Pro)
c.1492G>C (p.Ala498Pro)
17g.42543441G=CA2260530269NAGLUc.1435G= (p.Ala479=)
c.773G= (n.773G=)
c.474G=
c.604G= (p.Ala202=)
c.436G= (p.Ala146=)
c.1492G= (p.Ala498=)
17g.42543441G>TCA399602510NAGLUc.1435G>T (p.Ala479Ser)
c.773G>T (n.773G>T)
c.474G>T
c.604G>T (p.Ala202Ser)
c.436G>T (p.Ala146Ser)
c.1492G>T (p.Ala498Ser)
 gnomAD v4
17g.42543442C>ACA399602511NAGLUc.1436C>A (p.Ala479Asp)
c.774C>A (n.774C>A)
c.475C>A
c.605C>A (p.Ala202Asp)
c.437C>A (p.Ala146Asp)
c.1493C>A (p.Ala498Asp)
17g.42543442C=CA2260530270NAGLUc.1436C= (p.Ala479=)
c.774C= (n.774C=)
c.475C=
c.605C= (p.Ala202=)
c.437C= (p.Ala146=)
c.1493C= (p.Ala498=)
17g.42543442C>GCA399602512NAGLUc.1436C>G (p.Ala479Gly)
c.774C>G (n.774C>G)
c.475C>G
c.605C>G (p.Ala202Gly)
c.437C>G (p.Ala146Gly)
c.1493C>G (p.Ala498Gly)
17g.42543442C>TCA399602513NAGLUc.1436C>T (p.Ala479Val)
c.774C>T (n.774C>T)
c.475C>T
c.605C>T (p.Ala202Val)
c.437C>T (p.Ala146Val)
c.1493C>T (p.Ala498Val)
 dbSNP gnomAD v2 gnomAD v4
17g.42543443C>ACA500216952NAGLUc.1437C>A (p.Ala479=)
c.775C>A (n.775C>A)
c.476C>A
c.606C>A (p.Ala202=)
c.438C>A (p.Ala146=)
c.1494C>A (p.Ala498=)
 ClinVar dbSNP gnomAD v4
17g.42543443C=CA2260530272NAGLUc.1437C= (p.Ala479=)
c.775C= (n.775C=)
c.476C=
c.606C= (p.Ala202=)
c.438C= (p.Ala146=)
c.1494C= (p.Ala498=)
17g.42543443C>GCA500216953NAGLUc.1437C>G (p.Ala479=)
c.775C>G (n.775C>G)
c.476C>G
c.606C>G (p.Ala202=)
c.438C>G (p.Ala146=)
c.1494C>G (p.Ala498=)
17g.42543443C>TCA8577018NAGLUc.1437C>T (p.Ala479=)
c.775C>T (n.775C>T)
c.476C>T
c.606C>T (p.Ala202=)
c.438C>T (p.Ala146=)
c.1494C>T (p.Ala498=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543443_42543453delCA913012291NAGLUc.1437_1447del (p.Ala480TrpfsTer?)
c.775_785del (n.775_785del)
c.476_486del
c.606_616del (p.Ala203TrpfsTer?)
c.438_448del (p.Ala147TrpfsTer?)
c.1494_1504del (p.Ala499TrpfsTer?)
17g.42543443_42543453delinsCGCCCGGCGGTCA2260530271NAGLUc.1437_1447delinsCGCCCGGCGGT (p.Ala479=)
c.775_785delinsCGCCCGGCGGT (n.775_785delinsCGCCCGGCGGT)
c.476_486delinsCGCCCGGCGGT
c.606_616delinsCGCCCGGCGGT (p.Ala202=)
c.438_448delinsCGCCCGGCGGT (p.Ala146=)
c.1494_1504delinsCGCCCGGCGGT (p.Ala498=)
17g.42543444G>ACA8577019NAGLUc.1438G>A (p.Ala480Thr)
c.776G>A (n.776G>A)
c.477G>A
c.607G>A (p.Ala203Thr)
c.439G>A (p.Ala147Thr)
c.1495G>A (p.Ala499Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543444G>CCA399602514NAGLUc.1438G>C (p.Ala480Pro)
c.776G>C (n.776G>C)
c.477G>C
c.607G>C (p.Ala203Pro)
c.439G>C (p.Ala147Pro)
c.1495G>C (p.Ala499Pro)
17g.42543444G=CA2260530273NAGLUc.1438G= (p.Ala480=)
c.776G= (n.776G=)
c.477G=
c.607G= (p.Ala203=)
c.439G= (p.Ala147=)
c.1495G= (p.Ala499=)
17g.42543444G>TCA399602515NAGLUc.1438G>T (p.Ala480Ser)
c.776G>T (n.776G>T)
c.477G>T
c.607G>T (p.Ala203Ser)
c.439G>T (p.Ala147Ser)
c.1495G>T (p.Ala499Ser)
 dbSNP gnomAD v4
17g.42543444_42543453delCA658823961NAGLUc.1438_1447del (p.Ala480MetfsTer?)
c.776_785del (n.776_785del)
c.477_486del
c.607_616del (p.Ala203MetfsTer?)
c.439_448del (p.Ala147MetfsTer?)
c.1495_1504del (p.Ala499MetfsTer?)
 ClinVar dbSNP
17g.42543445C>ACA399602516NAGLUc.1439C>A (p.Ala480Asp)
c.777C>A (n.777C>A)
c.478C>A
c.608C>A (p.Ala203Asp)
c.440C>A (p.Ala147Asp)
c.1496C>A (p.Ala499Asp)
17g.42543445C=CA2260530274NAGLUc.1439C= (p.Ala480=)
c.777C= (n.777C=)
c.478C=
c.608C= (p.Ala203=)
c.440C= (p.Ala147=)
c.1496C= (p.Ala499=)
17g.42543445C>GCA8577020NAGLUc.1439C>G (p.Ala480Gly)
c.777C>G (n.777C>G)
c.478C>G
c.608C>G (p.Ala203Gly)
c.440C>G (p.Ala147Gly)
c.1496C>G (p.Ala499Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42543445C>TCA399602517NAGLUc.1439C>T (p.Ala480Val)
c.777C>T (n.777C>T)
c.478C>T
c.608C>T (p.Ala203Val)
c.440C>T (p.Ala147Val)
c.1496C>T (p.Ala499Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42543447delCA2637971213NAGLUc.1441del (p.Arg481GlyfsTer?)
c.779del (n.779del)
c.480del
c.610del (p.Arg204GlyfsTer?)
c.442del (p.Arg148GlyfsTer?)
c.1498del (p.Arg500GlyfsTer?)
 gnomAD v4
17g.42543446C>ACA500216956NAGLUc.1440C>A (p.Ala480=)
c.778C>A (n.778C>A)
c.479C>A
c.609C>A (p.Ala203=)
c.441C>A (p.Ala147=)
c.1497C>A (p.Ala499=)
17g.42543446C>GCA500216954NAGLUc.1440C>G (p.Ala480=)
c.778C>G (n.778C>G)
c.479C>G
c.609C>G (p.Ala203=)
c.441C>G (p.Ala147=)
c.1497C>G (p.Ala499=)
17g.42543446C>TCA500216955NAGLUc.1440C>T (p.Ala480=)
c.778C>T (n.778C>T)
c.479C>T
c.609C>T (p.Ala203=)
c.441C>T (p.Ala147=)
c.1497C>T (p.Ala499=)
 gnomAD v4
17g.42543447C>ACA500216957NAGLUc.1441C>A (p.Arg481=)
c.779C>A (n.779C>A)
c.480C>A
c.610C>A (p.Arg204=)
c.442C>A (p.Arg148=)
c.1498C>A (p.Arg500=)
17g.42543447C=CA2260530275NAGLUc.1441C= (p.Arg481=)
c.779C= (n.779C=)
c.480C=
c.610C= (p.Arg204=)
c.442C= (p.Arg148=)
c.1498C= (p.Arg500=)
17g.42543447C>GCA399602518NAGLUc.1441C>G (p.Arg481Gly)
c.779C>G (n.779C>G)
c.480C>G
c.610C>G (p.Arg204Gly)
c.442C>G (p.Arg148Gly)
c.1498C>G (p.Arg500Gly)
 dbSNP gnomAD v2 gnomAD v4
17g.42543447C>TCA8577021NAGLUc.1441C>T (p.Arg481Trp)
c.779C>T (n.779C>T)
c.480C>T
c.610C>T (p.Arg204Trp)
c.442C>T (p.Arg148Trp)
c.1498C>T (p.Arg500Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543448G>ACA290780503NAGLUc.1442G>A (p.Arg481Gln)
c.780G>A (n.780G>A)
c.481G>A
c.611G>A (p.Arg204Gln)
c.443G>A (p.Arg148Gln)
c.1499G>A (p.Arg500Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42543448G>CCA399602519NAGLUc.1442G>C (p.Arg481Pro)
c.780G>C (n.780G>C)
c.481G>C
c.611G>C (p.Arg204Pro)
c.443G>C (p.Arg148Pro)
c.1499G>C (p.Arg500Pro)
17g.42543448G=CA2260530276NAGLUc.1442G= (p.Arg481=)
c.780G= (n.780G=)
c.481G=
c.611G= (p.Arg204=)
c.443G= (p.Arg148=)
c.1499G= (p.Arg500=)
17g.42543448G>TCA399602520NAGLUc.1442G>T (p.Arg481Leu)
c.780G>T (n.780G>T)
c.481G>T
c.611G>T (p.Arg204Leu)
c.443G>T (p.Arg148Leu)
c.1499G>T (p.Arg500Leu)
 gnomAD v4
17g.42543449G>ACA500216960NAGLUc.1443G>A (p.Arg481=)
c.781G>A (n.781G>A)
c.482G>A
c.612G>A (p.Arg204=)
c.444G>A (p.Arg148=)
c.1500G>A (p.Arg500=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42543449G>CCA500216958NAGLUc.1443G>C (p.Arg481=)
c.781G>C (n.781G>C)
c.482G>C
c.612G>C (p.Arg204=)
c.444G>C (p.Arg148=)
c.1500G>C (p.Arg500=)
 gnomAD v4
17g.42543449G=CA2260530277NAGLUc.1443G= (p.Arg481=)
c.781G= (n.781G=)
c.482G=
c.612G= (p.Arg204=)
c.444G= (p.Arg148=)
c.1500G= (p.Arg500=)
17g.42543449G>TCA500216959NAGLUc.1443G>T (p.Arg481=)
c.781G>T (n.781G>T)
c.482G>T
c.612G>T (p.Arg204=)
c.444G>T (p.Arg148=)
c.1500G>T (p.Arg500=)
 gnomAD v4
17g.42543450delCA2741537164NAGLUc.1444del (p.Arg482GlyfsTer?)
c.782del (n.782del)
c.483del
c.613del (p.Arg205GlyfsTer?)
c.445del (p.Arg149GlyfsTer?)
c.1501del (p.Arg501GlyfsTer?)
17g.42543450C>ACA500216961NAGLUc.1444C>A (p.Arg482=)
c.782C>A (n.782C>A)
c.483C>A
c.613C>A (p.Arg205=)
c.445C>A (p.Arg149=)
c.1501C>A (p.Arg501=)
 ClinVar dbSNP gnomAD v4
17g.42543450C=CA2260530278NAGLUc.1444C= (p.Arg482=)
c.782C= (n.782C=)
c.483C=
c.613C= (p.Arg205=)
c.445C= (p.Arg149=)
c.1501C= (p.Arg501=)
17g.42543450C>GCA399602521NAGLUc.1444C>G (p.Arg482Gly)
c.782C>G (n.782C>G)
c.483C>G
c.613C>G (p.Arg205Gly)
c.445C>G (p.Arg149Gly)
c.1501C>G (p.Arg501Gly)
17g.42543450C>TCA115054NAGLUc.1444C>T (p.Arg482Trp)
c.782C>T (n.782C>T)
c.483C>T
c.613C>T (p.Arg205Trp)
c.445C>T (p.Arg149Trp)
c.1501C>T (p.Arg501Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543451G>ACA8577022NAGLUc.1445G>A (p.Arg482Gln)
c.783G>A (n.783G>A)
c.484G>A
c.614G>A (p.Arg205Gln)
c.446G>A (p.Arg149Gln)
c.1502G>A (p.Arg501Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543451G>CCA399602523NAGLUc.1445G>C (p.Arg482Pro)
c.783G>C (n.783G>C)
c.484G>C
c.614G>C (p.Arg205Pro)
c.446G>C (p.Arg149Pro)
c.1502G>C (p.Arg501Pro)
17g.42543451G=CA2260530279NAGLUc.1445G= (p.Arg482=)
c.783G= (n.783G=)
c.484G=
c.614G= (p.Arg205=)
c.446G= (p.Arg149=)
c.1502G= (p.Arg501=)
17g.42543451G>TCA399602522NAGLUc.1445G>T (p.Arg482Leu)
c.783G>T (n.783G>T)
c.484G>T
c.614G>T (p.Arg205Leu)
c.446G>T (p.Arg149Leu)
c.1502G>T (p.Arg501Leu)
 gnomAD v4
17g.42543452dupCA913012292NAGLUc.1446dup (p.Tyr483ValfsTer?)
c.784dup (n.784dup)
c.485dup
c.615dup (p.Tyr206ValfsTer?)
c.447dup (p.Tyr150ValfsTer?)
c.1503dup (p.Tyr502ValfsTer?)
17g.42543452G>ACA8577023NAGLUc.1446G>A (p.Arg482=)
c.784G>A (n.784G>A)
c.485G>A
c.615G>A (p.Arg205=)
c.447G>A (p.Arg149=)
c.1503G>A (p.Arg501=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543452G>CCA500216976NAGLUc.1446G>C (p.Arg482=)
c.784G>C (n.784G>C)
c.485G>C
c.615G>C (p.Arg205=)
c.447G>C (p.Arg149=)
c.1503G>C (p.Arg501=)
17g.42543452G=CA1139532160NAGLUc.1446G= (p.Arg482=)
c.784G= (n.784G=)
c.485G=
c.615G= (p.Arg205=)
c.447G= (p.Arg149=)
c.1503G= (p.Arg501=)
17g.42543452G>TCA500216975NAGLUc.1446G>T (p.Arg482=)
c.784G>T (n.784G>T)
c.485G>T
c.615G>T (p.Arg205=)
c.447G>T (p.Arg149=)
c.1503G>T (p.Arg501=)
 gnomAD v4
17g.42543452_42543453delCA2741537165NAGLUc.1446_1447del (p.Tyr483TrpfsTer?)
c.784_785del (n.784_785del)
c.485_486del
c.615_616del (p.Tyr206TrpfsTer?)
c.447_448del (p.Tyr150TrpfsTer?)
c.1503_1504del (p.Tyr502TrpfsTer?)
17g.42543453T>ACA399603817NAGLUc.1447T>A (p.Tyr483Asn)
c.785T>A (n.785T>A)
c.486T>A
c.616T>A (p.Tyr206Asn)
c.448T>A (p.Tyr150Asn)
c.1504T>A (p.Tyr502Asn)
17g.42543453T>CCA399603818NAGLUc.1447T>C (p.Tyr483His)
c.785T>C (n.785T>C)
c.486T>C
c.616T>C (p.Tyr206His)
c.448T>C (p.Tyr150His)
c.1504T>C (p.Tyr502His)
17g.42543453T>GCA399603820NAGLUc.1447T>G (p.Tyr483Asp)
c.785T>G (n.785T>G)
c.486T>G
c.616T>G (p.Tyr206Asp)
c.448T>G (p.Tyr150Asp)
c.1504T>G (p.Tyr502Asp)
17g.42543453dupCA8577024NAGLUc.1447dup (p.Tyr483LeufsTer?)
c.785dup (n.785dup)
c.486dup
c.616dup (p.Tyr206LeufsTer?)
c.448dup (p.Tyr150LeufsTer?)
c.1504dup (p.Tyr502LeufsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543454A=CA2260530280NAGLUc.1448A= (p.Tyr483=)
c.786A= (n.786A=)
c.487A=
c.617A= (p.Tyr206=)
c.449A= (p.Tyr150=)
c.1505A= (p.Tyr502=)
17g.42543454A>CCA399603826NAGLUc.1448A>C (p.Tyr483Ser)
c.786A>C (n.786A>C)
c.487A>C
c.617A>C (p.Tyr206Ser)
c.449A>C (p.Tyr150Ser)
c.1505A>C (p.Tyr502Ser)
17g.42543454A>GCA399603824NAGLUc.1448A>G (p.Tyr483Cys)
c.786A>G (n.786A>G)
c.487A>G
c.617A>G (p.Tyr206Cys)
c.449A>G (p.Tyr150Cys)
c.1505A>G (p.Tyr502Cys)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
17g.42543454A>TCA399603823NAGLUc.1448A>T (p.Tyr483Phe)
c.786A>T (n.786A>T)
c.487A>T
c.617A>T (p.Tyr206Phe)
c.449A>T (p.Tyr150Phe)
c.1505A>T (p.Tyr502Phe)
17g.42543455T>ACA399603828NAGLUc.1449T>A (p.Tyr483Ter)
c.787T>A (n.787T>A)
c.488T>A
c.618T>A (p.Tyr206Ter)
c.450T>A (p.Tyr150Ter)
c.1506T>A (p.Tyr502Ter)
17g.42543455T>CCA500216977NAGLUc.1449T>C (p.Tyr483=)
c.787T>C (n.787T>C)
c.488T>C
c.618T>C (p.Tyr206=)
c.450T>C (p.Tyr150=)
c.1506T>C (p.Tyr502=)
17g.42543455T>GCA399603830NAGLUc.1449T>G (p.Tyr483Ter)
c.787T>G (n.787T>G)
c.488T>G
c.618T>G (p.Tyr206Ter)
c.450T>G (p.Tyr150Ter)
c.1506T>G (p.Tyr502Ter)
17g.42543455T=CA2260530281NAGLUc.1449T= (p.Tyr483=)
c.787T= (n.787T=)
c.488T=
c.618T= (p.Tyr206=)
c.450T= (p.Tyr150=)
c.1506T= (p.Tyr502=)
17g.42543456G>ACA399603832NAGLUc.1450G>A (p.Gly484Arg)
c.788G>A (n.788G>A)
c.489G>A
c.619G>A (p.Gly207Arg)
c.451G>A (p.Gly151Arg)
c.1507G>A (p.Gly503Arg)
 gnomAD v4
17g.42543456G>CCA399603834NAGLUc.1450G>C (p.Gly484Arg)
c.788G>C (n.788G>C)
c.489G>C
c.619G>C (p.Gly207Arg)
c.451G>C (p.Gly151Arg)
c.1507G>C (p.Gly503Arg)
17g.42543456G>TCA399603835NAGLUc.1450G>T (p.Gly484Trp)
c.788G>T (n.788G>T)
c.489G>T
c.619G>T (p.Gly207Trp)
c.451G>T (p.Gly151Trp)
c.1507G>T (p.Gly503Trp)
 gnomAD v4
17g.42543459dupCA8577025NAGLUc.1453dup (p.Val485GlyfsTer?)
c.791dup (n.791dup)
c.492dup
c.622dup (p.Val208GlyfsTer?)
c.454dup (p.Val152GlyfsTer?)
c.1510dup (p.Val504GlyfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42543457G>ACA399603839NAGLUc.1451G>A (p.Gly484Glu)
c.789G>A (n.789G>A)
c.490G>A
c.620G>A (p.Gly207Glu)
c.452G>A (p.Gly151Glu)
c.1508G>A (p.Gly503Glu)
 dbSNP gnomAD v2 gnomAD v4
17g.42543457G>CCA399603837NAGLUc.1451G>C (p.Gly484Ala)
c.789G>C (n.789G>C)
c.490G>C
c.620G>C (p.Gly207Ala)
c.452G>C (p.Gly151Ala)
c.1508G>C (p.Gly503Ala)
17g.42543457G=CA2260530282NAGLUc.1451G= (p.Gly484=)
c.789G= (n.789G=)
c.490G=
c.620G= (p.Gly207=)
c.452G= (p.Gly151=)
c.1508G= (p.Gly503=)
17g.42543457G>TCA399603838NAGLUc.1451G>T (p.Gly484Val)
c.789G>T (n.789G>T)
c.490G>T
c.620G>T (p.Gly207Val)
c.452G>T (p.Gly151Val)
c.1508G>T (p.Gly503Val)
 gnomAD v4
17g.42543458G>ACA8577026NAGLUc.1452G>A (p.Gly484=)
c.790G>A (n.790G>A)
c.491G>A
c.621G>A (p.Gly207=)
c.453G>A (p.Gly151=)
c.1509G>A (p.Gly503=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543458G>CCA500216979NAGLUc.1452G>C (p.Gly484=)
c.790G>C (n.790G>C)
c.491G>C
c.621G>C (p.Gly207=)
c.453G>C (p.Gly151=)
c.1509G>C (p.Gly503=)
17g.42543458G=CA2260530283NAGLUc.1452G= (p.Gly484=)
c.790G= (n.790G=)
c.491G=
c.621G= (p.Gly207=)
c.453G= (p.Gly151=)
c.1509G= (p.Gly503=)
17g.42543458G>TCA500216978NAGLUc.1452G>T (p.Gly484=)
c.790G>T (n.790G>T)
c.491G>T
c.621G>T (p.Gly207=)
c.453G>T (p.Gly151=)
c.1509G>T (p.Gly503=)
 gnomAD v4
17g.42543459G>ACA399603843NAGLUc.1453G>A (p.Val485Ile)
c.791G>A (n.791G>A)
c.492G>A
c.622G>A (p.Val208Ile)
c.454G>A (p.Val152Ile)
c.1510G>A (p.Val504Ile)
 dbSNP gnomAD v4
17g.42543459G>CCA399603844NAGLUc.1453G>C (p.Val485Leu)
c.791G>C (n.791G>C)
c.492G>C
c.622G>C (p.Val208Leu)
c.454G>C (p.Val152Leu)
c.1510G>C (p.Val504Leu)
 ClinVar dbSNP
17g.42543459G=CA2260530284NAGLUc.1453G= (p.Val485=)
c.791G= (n.791G=)
c.492G=
c.622G= (p.Val208=)
c.454G= (p.Val152=)
c.1510G= (p.Val504=)
17g.42543459G>TCA399603846NAGLUc.1453G>T (p.Val485Phe)
c.791G>T (n.791G>T)
c.492G>T
c.622G>T (p.Val208Phe)
c.454G>T (p.Val152Phe)
c.1510G>T (p.Val504Phe)
 dbSNP gnomAD v2 gnomAD v4
17g.42543460T>ACA399603848NAGLUc.1454T>A (p.Val485Asp)
c.792T>A (n.792T>A)
c.493T>A
c.623T>A (p.Val208Asp)
c.455T>A (p.Val152Asp)
c.1511T>A (p.Val504Asp)
17g.42543460T>CCA399603849NAGLUc.1454T>C (p.Val485Ala)
c.792T>C (n.792T>C)
c.493T>C
c.623T>C (p.Val208Ala)
c.455T>C (p.Val152Ala)
c.1511T>C (p.Val504Ala)
17g.42543460T>GCA399603850NAGLUc.1454T>G (p.Val485Gly)
c.792T>G (n.792T>G)
c.493T>G
c.623T>G (p.Val208Gly)
c.455T>G (p.Val152Gly)
c.1511T>G (p.Val504Gly)
 dbSNP
17g.42543460T=CA2260530285NAGLUc.1454T= (p.Val485=)
c.792T= (n.792T=)
c.493T=
c.623T= (p.Val208=)
c.455T= (p.Val152=)
c.1511T= (p.Val504=)
17g.42543461C>ACA500216980NAGLUc.1455C>A (p.Val485=)
c.793C>A (n.793C>A)
c.494C>A
c.624C>A (p.Val208=)
c.456C>A (p.Val152=)
c.1512C>A (p.Val504=)
 gnomAD v4
17g.42543461C>GCA500216981NAGLUc.1455C>G (p.Val485=)
c.793C>G (n.793C>G)
c.494C>G
c.624C>G (p.Val208=)
c.456C>G (p.Val152=)
c.1512C>G (p.Val504=)
17g.42543461C>TCA500216982NAGLUc.1455C>T (p.Val485=)
c.793C>T (n.793C>T)
c.494C>T
c.624C>T (p.Val208=)
c.456C>T (p.Val152=)
c.1512C>T (p.Val504=)
17g.42543462T>ACA399603853NAGLUc.1456T>A (p.Ser486Thr)
c.794T>A (n.794T>A)
c.495T>A
c.625T>A (p.Ser209Thr)
c.457T>A (p.Ser153Thr)
c.1513T>A (p.Ser505Thr)
17g.42543462T>CCA399603854NAGLUc.1456T>C (p.Ser486Pro)
c.794T>C (n.794T>C)
c.495T>C
c.625T>C (p.Ser209Pro)
c.457T>C (p.Ser153Pro)
c.1513T>C (p.Ser505Pro)
 gnomAD v4
17g.42543462T>GCA399603856NAGLUc.1456T>G (p.Ser486Ala)
c.794T>G (n.794T>G)
c.495T>G
c.625T>G (p.Ser209Ala)
c.457T>G (p.Ser153Ala)
c.1513T>G (p.Ser505Ala)
17g.42543463C>ACA399603858NAGLUc.1457C>A (p.Ser486Tyr)
c.795C>A (n.795C>A)
c.496C>A
c.626C>A (p.Ser209Tyr)
c.458C>A (p.Ser153Tyr)
c.1514C>A (p.Ser505Tyr)
 gnomAD v4
17g.42543463C=CA2260530286NAGLUc.1457C= (p.Ser486=)
c.795C= (n.795C=)
c.496C=
c.626C= (p.Ser209=)
c.458C= (p.Ser153=)
c.1514C= (p.Ser505=)
17g.42543463C>GCA399603860NAGLUc.1457C>G (p.Ser486Cys)
c.795C>G (n.795C>G)
c.496C>G
c.626C>G (p.Ser209Cys)
c.458C>G (p.Ser153Cys)
c.1514C>G (p.Ser505Cys)
17g.42543463C>TCA8577027NAGLUc.1457C>T (p.Ser486Phe)
c.795C>T (n.795C>T)
c.496C>T
c.626C>T (p.Ser209Phe)
c.458C>T (p.Ser153Phe)
c.1514C>T (p.Ser505Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543464C>ACA500216983NAGLUc.1458C>A (p.Ser486=)
c.796C>A (n.796C>A)
c.497C>A
c.627C>A (p.Ser209=)
c.459C>A (p.Ser153=)
c.1515C>A (p.Ser505=)
17g.42543464C=CA2260530287NAGLUc.1458C= (p.Ser486=)
c.796C= (n.796C=)
c.497C=
c.627C= (p.Ser209=)
c.459C= (p.Ser153=)
c.1515C= (p.Ser505=)
17g.42543464C>GCA500216985NAGLUc.1458C>G (p.Ser486=)
c.796C>G (n.796C>G)
c.497C>G
c.627C>G (p.Ser209=)
c.459C>G (p.Ser153=)
c.1515C>G (p.Ser505=)
17g.42543464C>TCA500216984NAGLUc.1458C>T (p.Ser486=)
c.796C>T (n.796C>T)
c.497C>T
c.627C>T (p.Ser209=)
c.459C>T (p.Ser153=)
c.1515C>T (p.Ser505=)
 dbSNP gnomAD v3 gnomAD v4
17g.42543465C>ACA399603863NAGLUc.1459C>A (p.His487Asn)
c.797C>A (n.797C>A)
c.498C>A
c.628C>A (p.His210Asn)
c.460C>A (p.His154Asn)
c.1516C>A (p.His506Asn)
17g.42543465C=CA2260530288NAGLUc.1459C= (p.His487=)
c.797C= (n.797C=)
c.498C=
c.628C= (p.His210=)
c.460C= (p.His154=)
c.1516C= (p.His506=)
17g.42543465C>GCA399603867NAGLUc.1459C>G (p.His487Asp)
c.797C>G (n.797C>G)
c.498C>G
c.628C>G (p.His210Asp)
c.460C>G (p.His154Asp)
c.1516C>G (p.His506Asp)
17g.42543465C>TCA399603865NAGLUc.1459C>T (p.His487Tyr)
c.797C>T (n.797C>T)
c.498C>T
c.628C>T (p.His210Tyr)
c.460C>T (p.His154Tyr)
c.1516C>T (p.His506Tyr)
 dbSNP gnomAD v2
17g.42543466A=CA2260530289NAGLUc.1460A= (p.His487=)
c.798A= (n.798A=)
c.499A=
c.629A= (p.His210=)
c.461A= (p.His154=)
c.1517A= (p.His506=)
17g.42543466A>CCA399603870NAGLUc.1460A>C (p.His487Pro)
c.798A>C (n.798A>C)
c.499A>C
c.629A>C (p.His210Pro)
c.461A>C (p.His154Pro)
c.1517A>C (p.His506Pro)
 gnomAD v4
17g.42543466A>GCA399603871NAGLUc.1460A>G (p.His487Arg)
c.798A>G (n.798A>G)
c.499A>G
c.629A>G (p.His210Arg)
c.461A>G (p.His154Arg)
c.1517A>G (p.His506Arg)
17g.42543466A>TCA399603872NAGLUc.1460A>T (p.His487Leu)
c.798A>T (n.798A>T)
c.499A>T
c.629A>T (p.His210Leu)
c.461A>T (p.His154Leu)
c.1517A>T (p.His506Leu)
17g.42543466dupCA913012293NAGLUc.1460dup (p.His487GlnfsTer29)
c.798dup (n.798dup)
c.499dup
c.629dup (p.His210GlnfsTer29)
c.461dup (p.His154GlnfsTer29)
c.1517dup (p.His506GlnfsTer29)
 ClinVar dbSNP
17g.42543467C>ACA290780560NAGLUc.1461C>A (p.His487Gln)
c.799C>A (n.799C>A)
c.500C>A
c.630C>A (p.His210Gln)
c.462C>A (p.His154Gln)
c.1518C>A (p.His506Gln)
 ClinVar dbSNP gnomAD v4
17g.42543467C=CA2260530290NAGLUc.1461C= (p.His487=)
c.799C= (n.799C=)
c.500C=
c.630C= (p.His210=)
c.462C= (p.His154=)
c.1518C= (p.His506=)
17g.42543467C>GCA399603876NAGLUc.1461C>G (p.His487Gln)
c.799C>G (n.799C>G)
c.500C>G
c.630C>G (p.His210Gln)
c.462C>G (p.His154Gln)
c.1518C>G (p.His506Gln)
17g.42543467C>TCA500216986NAGLUc.1461C>T (p.His487=)
c.799C>T (n.799C>T)
c.500C>T
c.630C>T (p.His210=)
c.462C>T (p.His154=)
c.1518C>T (p.His506=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42543469dupCA658823962NAGLUc.1463dup (p.Asp489GlyfsTer27)
c.801dup (n.801dup)
c.502dup
c.632dup (p.Asp212GlyfsTer27)
c.464dup (p.Asp156GlyfsTer27)
c.1520dup (p.Asp508GlyfsTer27)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42543469delCA2576276093NAGLUc.1463del (p.Pro488ArgfsTer?)
c.801del (n.801del)
c.502del
c.632del (p.Pro211ArgfsTer?)
c.464del (p.Pro155ArgfsTer?)
c.1520del (p.Pro507ArgfsTer?)
17g.42543468C>ACA290780564NAGLUc.1462C>A (p.Pro488Thr)
c.800C>A (n.800C>A)
c.501C>A
c.631C>A (p.Pro211Thr)
c.463C>A (p.Pro155Thr)
c.1519C>A (p.Pro507Thr)
 dbSNP gnomAD v4
17g.42543468C=CA2260530291NAGLUc.1462C= (p.Pro488=)
c.800C= (n.800C=)
c.501C=
c.631C= (p.Pro211=)
c.463C= (p.Pro155=)
c.1519C= (p.Pro507=)
17g.42543468C>GCA399603879NAGLUc.1462C>G (p.Pro488Ala)
c.800C>G (n.800C>G)
c.501C>G
c.631C>G (p.Pro211Ala)
c.463C>G (p.Pro155Ala)
c.1519C>G (p.Pro507Ala)
17g.42543468C>TCA399603880NAGLUc.1462C>T (p.Pro488Ser)
c.800C>T (n.800C>T)
c.501C>T
c.631C>T (p.Pro211Ser)
c.463C>T (p.Pro155Ser)
c.1519C>T (p.Pro507Ser)
17g.42543469C>ACA399603883NAGLUc.1463C>A (p.Pro488Gln)
c.801C>A (n.801C>A)
c.502C>A
c.632C>A (p.Pro211Gln)
c.464C>A (p.Pro155Gln)
c.1520C>A (p.Pro507Gln)
 gnomAD v4
17g.42543469C=CA2260530292NAGLUc.1463C= (p.Pro488=)
c.801C= (n.801C=)
c.502C=
c.632C= (p.Pro211=)
c.464C= (p.Pro155=)
c.1520C= (p.Pro507=)
17g.42543469C>GCA399603885NAGLUc.1463C>G (p.Pro488Arg)
c.801C>G (n.801C>G)
c.502C>G
c.632C>G (p.Pro211Arg)
c.464C>G (p.Pro155Arg)
c.1520C>G (p.Pro507Arg)
17g.42543469C>TCA8577028NAGLUc.1463C>T (p.Pro488Leu)
c.801C>T (n.801C>T)
c.502C>T
c.632C>T (p.Pro211Leu)
c.464C>T (p.Pro155Leu)
c.1520C>T (p.Pro507Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543470G>ACA8577029NAGLUc.1464G>A (p.Pro488=)
c.802G>A (n.802G>A)
c.503G>A
c.633G>A (p.Pro211=)
c.465G>A (p.Pro155=)
c.1521G>A (p.Pro507=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.42543470G>CCA500216988NAGLUc.1464G>C (p.Pro488=)
c.802G>C (n.802G>C)
c.503G>C
c.633G>C (p.Pro211=)
c.465G>C (p.Pro155=)
c.1521G>C (p.Pro507=)
17g.42543470G=CA2260530293NAGLUc.1464G= (p.Pro488=)
c.802G= (n.802G=)
c.503G=
c.633G= (p.Pro211=)
c.465G= (p.Pro155=)
c.1521G= (p.Pro507=)
17g.42543470G>TCA500216987NAGLUc.1464G>T (p.Pro488=)
c.802G>T (n.802G>T)
c.503G>T
c.633G>T (p.Pro211=)
c.465G>T (p.Pro155=)
c.1521G>T (p.Pro507=)
 gnomAD v4
17g.42543471G>ACA399603891NAGLUc.1465G>A (p.Asp489Asn)
c.803G>A (n.803G>A)
c.504G>A
c.634G>A (p.Asp212Asn)
c.466G>A (p.Asp156Asn)
c.1522G>A (p.Asp508Asn)
17g.42543471G>CCA399603890NAGLUc.1465G>C (p.Asp489His)
c.803G>C (n.803G>C)
c.504G>C
c.634G>C (p.Asp212His)
c.466G>C (p.Asp156His)
c.1522G>C (p.Asp508His)
 gnomAD v4
17g.42543471G>TCA399603888NAGLUc.1465G>T (p.Asp489Tyr)
c.803G>T (n.803G>T)
c.504G>T
c.634G>T (p.Asp212Tyr)
c.466G>T (p.Asp156Tyr)
c.1522G>T (p.Asp508Tyr)
 gnomAD v4
17g.42543472A>CCA399603893NAGLUc.1466A>C (p.Asp489Ala)
c.804A>C (n.804A>C)
c.505A>C
c.635A>C (p.Asp212Ala)
c.467A>C (p.Asp156Ala)
c.1523A>C (p.Asp508Ala)
17g.42543472A>GCA399603895NAGLUc.1466A>G (p.Asp489Gly)
c.804A>G (n.804A>G)
c.505A>G
c.635A>G (p.Asp212Gly)
c.467A>G (p.Asp156Gly)
c.1523A>G (p.Asp508Gly)
17g.42543472A>TCA399603896NAGLUc.1466A>T (p.Asp489Val)
c.804A>T (n.804A>T)
c.505A>T
c.635A>T (p.Asp212Val)
c.467A>T (p.Asp156Val)
c.1523A>T (p.Asp508Val)
17g.42543473C>ACA399603898NAGLUc.1467C>A (p.Asp489Glu)
c.805C>A (n.805C>A)
c.506C>A
c.636C>A (p.Asp212Glu)
c.468C>A (p.Asp156Glu)
c.1524C>A (p.Asp508Glu)
 gnomAD v4
17g.42543473C=CA2260530294NAGLUc.1467C= (p.Asp489=)
c.805C= (n.805C=)
c.506C=
c.636C= (p.Asp212=)
c.468C= (p.Asp156=)
c.1524C= (p.Asp508=)
17g.42543473C>GCA399603899NAGLUc.1467C>G (p.Asp489Glu)
c.805C>G (n.805C>G)
c.506C>G
c.636C>G (p.Asp212Glu)
c.468C>G (p.Asp156Glu)
c.1524C>G (p.Asp508Glu)
17g.42543473C>TCA8577030NAGLUc.1467C>T (p.Asp489=)
c.805C>T (n.805C>T)
c.506C>T
c.636C>T (p.Asp212=)
c.468C>T (p.Asp156=)
c.1524C>T (p.Asp508=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543474G>ACA8577031NAGLUc.1468G>A (p.Ala490Thr)
c.806G>A (n.806G>A)
c.507G>A
c.637G>A (p.Ala213Thr)
c.469G>A (p.Ala157Thr)
c.1525G>A (p.Ala509Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42543474G>CCA399603903NAGLUc.1468G>C (p.Ala490Pro)
c.806G>C (n.806G>C)
c.507G>C
c.637G>C (p.Ala213Pro)
c.469G>C (p.Ala157Pro)
c.1525G>C (p.Ala509Pro)
17g.42543474G=CA2260530295NAGLUc.1468G= (p.Ala490=)
c.806G= (n.806G=)
c.507G=
c.637G= (p.Ala213=)
c.469G= (p.Ala157=)
c.1525G= (p.Ala509=)
17g.42543474G>TCA290780582NAGLUc.1468G>T (p.Ala490Ser)
c.806G>T (n.806G>T)
c.507G>T
c.637G>T (p.Ala213Ser)
c.469G>T (p.Ala157Ser)
c.1525G>T (p.Ala509Ser)
 dbSNP gnomAD v4
17g.42543475C>ACA399603906NAGLUc.1469C>A (p.Ala490Glu)
c.807C>A (n.807C>A)
c.508C>A
c.638C>A (p.Ala213Glu)
c.470C>A (p.Ala157Glu)
c.1526C>A (p.Ala509Glu)
 gnomAD v4
17g.42543475C>GCA399603908NAGLUc.1469C>G (p.Ala490Gly)
c.807C>G (n.807C>G)
c.508C>G
c.638C>G (p.Ala213Gly)
c.470C>G (p.Ala157Gly)
c.1526C>G (p.Ala509Gly)
17g.42543475C>TCA399603910NAGLUc.1469C>T (p.Ala490Val)
c.807C>T (n.807C>T)
c.508C>T
c.638C>T (p.Ala213Val)
c.470C>T (p.Ala157Val)
c.1526C>T (p.Ala509Val)
17g.42543476A>CCA500216989NAGLUc.1470A>C (p.Ala490=)
c.808A>C (n.808A>C)
c.509A>C
c.639A>C (p.Ala213=)
c.471A>C (p.Ala157=)
c.1527A>C (p.Ala509=)
 gnomAD v4
17g.42543476A>GCA500216991NAGLUc.1470A>G (p.Ala490=)
c.808A>G (n.808A>G)
c.509A>G
c.639A>G (p.Ala213=)
c.471A>G (p.Ala157=)
c.1527A>G (p.Ala509=)
 ClinVar dbSNP gnomAD v4
17g.42543476A>TCA500216990NAGLUc.1470A>T (p.Ala490=)
c.808A>T (n.808A>T)
c.509A>T
c.639A>T (p.Ala213=)
c.471A>T (p.Ala157=)
c.1527A>T (p.Ala509=)
17g.42543477G>ACA399603915NAGLUc.1471G>A (p.Gly491Arg)
c.809G>A (n.809G>A)
c.510G>A
c.640G>A (p.Gly214Arg)
c.472G>A (p.Gly158Arg)
c.1528G>A (p.Gly510Arg)
17g.42543477G>CCA399603914NAGLUc.1471G>C (p.Gly491Arg)
c.809G>C (n.809G>C)
c.510G>C
c.640G>C (p.Gly214Arg)
c.472G>C (p.Gly158Arg)
c.1528G>C (p.Gly510Arg)
17g.42543477G>TCA399603912NAGLUc.1471G>T (p.Gly491Trp)
c.809G>T (n.809G>T)
c.510G>T
c.640G>T (p.Gly214Trp)
c.472G>T (p.Gly158Trp)
c.1528G>T (p.Gly510Trp)
 gnomAD v4
17g.42543478G>ACA399603917NAGLUc.1472G>A (p.Gly491Glu)
c.810G>A (n.810G>A)
c.511G>A
c.641G>A (p.Gly214Glu)
c.473G>A (p.Gly158Glu)
c.1529G>A (p.Gly510Glu)
 ClinVar
17g.42543478G>CCA8577032NAGLUc.1472G>C (p.Gly491Ala)
c.810G>C (n.810G>C)
c.511G>C
c.641G>C (p.Gly214Ala)
c.473G>C (p.Gly158Ala)
c.1529G>C (p.Gly510Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42543478G=CA2260530296NAGLUc.1472G= (p.Gly491=)
c.810G= (n.810G=)
c.511G=
c.641G= (p.Gly214=)
c.473G= (p.Gly158=)
c.1529G= (p.Gly510=)
17g.42543478G>TCA399603918NAGLUc.1472G>T (p.Gly491Val)
c.810G>T (n.810G>T)
c.511G>T
c.641G>T (p.Gly214Val)
c.473G>T (p.Gly158Val)
c.1529G>T (p.Gly510Val)
 gnomAD v4
17g.42543479G>ACA500216994NAGLUc.1473G>A (p.Gly491=)
c.811G>A (n.811G>A)
c.512G>A
c.642G>A (p.Gly214=)
c.474G>A (p.Gly158=)
c.1530G>A (p.Gly510=)
17g.42543479G>CCA500216992NAGLUc.1473G>C (p.Gly491=)
c.811G>C (n.811G>C)
c.512G>C
c.642G>C (p.Gly214=)
c.474G>C (p.Gly158=)
c.1530G>C (p.Gly510=)
 dbSNP
17g.42543479G=CA2260530297NAGLUc.1473G= (p.Gly491=)
c.811G= (n.811G=)
c.512G=
c.642G= (p.Gly214=)
c.474G= (p.Gly158=)
c.1530G= (p.Gly510=)
17g.42543479G>TCA500216993NAGLUc.1473G>T (p.Gly491=)
c.811G>T (n.811G>T)
c.512G>T
c.642G>T (p.Gly214=)
c.474G>T (p.Gly158=)
c.1530G>T (p.Gly510=)
 gnomAD v4
17g.42543480G>ACA290780598NAGLUc.1474G>A (p.Ala492Thr)
c.812G>A (n.812G>A)
c.513G>A
c.643G>A (p.Ala215Thr)
c.475G>A (p.Ala159Thr)
c.1531G>A (p.Ala511Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42543480G>CCA399603924NAGLUc.1474G>C (p.Ala492Pro)
c.812G>C (n.812G>C)
c.513G>C
c.643G>C (p.Ala215Pro)
c.475G>C (p.Ala159Pro)
c.1531G>C (p.Ala511Pro)
17g.42543480G=CA2260530298NAGLUc.1474G= (p.Ala492=)
c.812G= (n.812G=)
c.513G=
c.643G= (p.Ala215=)
c.475G= (p.Ala159=)
c.1531G= (p.Ala511=)
17g.42543480G>TCA399603922NAGLUc.1474G>T (p.Ala492Ser)
c.812G>T (n.812G>T)
c.513G>T
c.643G>T (p.Ala215Ser)
c.475G>T (p.Ala159Ser)
c.1531G>T (p.Ala511Ser)
17g.42543481C>ACA399603926NAGLUc.1475C>A (p.Ala492Glu)
c.813C>A (n.813C>A)
c.514C>A
c.644C>A (p.Ala215Glu)
c.476C>A (p.Ala159Glu)
c.1532C>A (p.Ala511Glu)
 gnomAD v4
17g.42543481C>GCA399603928NAGLUc.1475C>G (p.Ala492Gly)
c.813C>G (n.813C>G)
c.514C>G
c.644C>G (p.Ala215Gly)
c.476C>G (p.Ala159Gly)
c.1532C>G (p.Ala511Gly)
17g.42543481C>TCA399603929NAGLUc.1475C>T (p.Ala492Val)
c.813C>T (n.813C>T)
c.514C>T
c.644C>T (p.Ala215Val)
c.476C>T (p.Ala159Val)
c.1532C>T (p.Ala511Val)
 gnomAD v4
17g.42543482A>CCA500216995NAGLUc.1476A>C (p.Ala492=)
c.814A>C (n.814A>C)
c.515A>C
c.645A>C (p.Ala215=)
c.477A>C (p.Ala159=)
c.1533A>C (p.Ala511=)
17g.42543482A>GCA500216996NAGLUc.1476A>G (p.Ala492=)
c.814A>G (n.814A>G)
c.515A>G
c.645A>G (p.Ala215=)
c.477A>G (p.Ala159=)
c.1533A>G (p.Ala511=)
17g.42543482A>TCA500216997NAGLUc.1476A>T (p.Ala492=)
c.814A>T (n.814A>T)
c.515A>T
c.645A>T (p.Ala215=)
c.477A>T (p.Ala159=)
c.1533A>T (p.Ala511=)
17g.42543483G>ACA399603932NAGLUc.1477G>A (p.Ala493Thr)
c.815G>A (n.815G>A)
c.516G>A
c.646G>A (p.Ala216Thr)
c.478G>A (p.Ala160Thr)
c.1534G>A (p.Ala512Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42543483G>CCA399603934NAGLUc.1477G>C (p.Ala493Pro)
c.815G>C (n.815G>C)
c.516G>C
c.646G>C (p.Ala216Pro)
c.478G>C (p.Ala160Pro)
c.1534G>C (p.Ala512Pro)
17g.42543483G=CA2260530299NAGLUc.1477G= (p.Ala493=)
c.815G= (n.815G=)
c.516G=
c.646G= (p.Ala216=)
c.478G= (p.Ala160=)
c.1534G= (p.Ala512=)
17g.42543483G>TCA399603935NAGLUc.1477G>T (p.Ala493Ser)
c.815G>T (n.815G>T)
c.516G>T
c.646G>T (p.Ala216Ser)
c.478G>T (p.Ala160Ser)
c.1534G>T (p.Ala512Ser)
17g.42543484C>ACA399603937NAGLUc.1478C>A (p.Ala493Glu)
c.816C>A (n.816C>A)
c.517C>A
c.647C>A (p.Ala216Glu)
c.479C>A (p.Ala160Glu)
c.1535C>A (p.Ala512Glu)
 gnomAD v4
17g.42543484C=CA2260530300NAGLUc.1478C= (p.Ala493=)
c.816C= (n.816C=)
c.517C=
c.647C= (p.Ala216=)
c.479C= (p.Ala160=)
c.1535C= (p.Ala512=)
17g.42543484C>GCA399603939NAGLUc.1478C>G (p.Ala493Gly)
c.816C>G (n.816C>G)
c.517C>G
c.647C>G (p.Ala216Gly)
c.479C>G (p.Ala160Gly)
c.1535C>G (p.Ala512Gly)
17g.42543484C>TCA8577033NAGLUc.1478C>T (p.Ala493Val)
c.816C>T (n.816C>T)
c.517C>T
c.647C>T (p.Ala216Val)
c.479C>T (p.Ala160Val)
c.1535C>T (p.Ala512Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42543485G>ACA8577034NAGLUc.1479G>A (p.Ala493=)
c.817G>A (n.817G>A)
c.518G>A
c.648G>A (p.Ala216=)
c.480G>A (p.Ala160=)
c.1536G>A (p.Ala512=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543485G>CCA500216998NAGLUc.1479G>C (p.Ala493=)
c.817G>C (n.817G>C)
c.518G>C
c.648G>C (p.Ala216=)
c.480G>C (p.Ala160=)
c.1536G>C (p.Ala512=)
17g.42543485G=CA2260530301NAGLUc.1479G= (p.Ala493=)
c.817G= (n.817G=)
c.518G=
c.648G= (p.Ala216=)
c.480G= (p.Ala160=)
c.1536G= (p.Ala512=)
17g.42543485G>TCA500216999NAGLUc.1479G>T (p.Ala493=)
c.817G>T (n.817G>T)
c.518G>T
c.648G>T (p.Ala216=)
c.480G>T (p.Ala160=)
c.1536G>T (p.Ala512=)
 gnomAD v4
17g.42543486T>ACA399603942NAGLUc.1480T>A (p.Trp494Arg)
c.818T>A (n.818T>A)
c.519T>A
c.649T>A (p.Trp217Arg)
c.481T>A (p.Trp161Arg)
c.1537T>A (p.Trp513Arg)
17g.42543486T>CCA399603943NAGLUc.1480T>C (p.Trp494Arg)
c.818T>C (n.818T>C)
c.519T>C
c.649T>C (p.Trp217Arg)
c.481T>C (p.Trp161Arg)
c.1537T>C (p.Trp513Arg)
17g.42543486T>GCA399603944NAGLUc.1480T>G (p.Trp494Gly)
c.818T>G (n.818T>G)
c.519T>G
c.649T>G (p.Trp217Gly)
c.481T>G (p.Trp161Gly)
c.1537T>G (p.Trp513Gly)
17g.42543487G>ACA399603950NAGLUc.1481G>A (p.Trp494Ter)
c.819G>A (n.819G>A)
c.520G>A
c.650G>A (p.Trp217Ter)
c.482G>A (p.Trp161Ter)
c.1538G>A (p.Trp513Ter)
 dbSNP gnomAD v2 gnomAD v4
17g.42543487G>CCA399603947NAGLUc.1481G>C (p.Trp494Ser)
c.819G>C (n.819G>C)
c.520G>C
c.650G>C (p.Trp217Ser)
c.482G>C (p.Trp161Ser)
c.1538G>C (p.Trp513Ser)
17g.42543487G=CA2260530302NAGLUc.1481G= (p.Trp494=)
c.819G= (n.819G=)
c.520G=
c.650G= (p.Trp217=)
c.482G= (p.Trp161=)
c.1538G= (p.Trp513=)
17g.42543487G>TCA399603948NAGLUc.1481G>T (p.Trp494Leu)
c.819G>T (n.819G>T)
c.520G>T
c.650G>T (p.Trp217Leu)
c.482G>T (p.Trp161Leu)
c.1538G>T (p.Trp513Leu)
17g.42543488G>ACA399603952NAGLUc.1482G>A (p.Trp494Ter)
c.820G>A (n.820G>A)
c.521G>A
c.651G>A (p.Trp217Ter)
c.483G>A (p.Trp161Ter)
c.1539G>A (p.Trp513Ter)
 ClinVar dbSNP
17g.42543488G>CCA399603954NAGLUc.1482G>C (p.Trp494Cys)
c.820G>C (n.820G>C)
c.521G>C
c.651G>C (p.Trp217Cys)
c.483G>C (p.Trp161Cys)
c.1539G>C (p.Trp513Cys)
17g.42543488G=CA2260530303NAGLUc.1482G= (p.Trp494=)
c.820G= (n.820G=)
c.521G=
c.651G= (p.Trp217=)
c.483G= (p.Trp161=)
c.1539G= (p.Trp513=)
17g.42543488G>TCA399603955NAGLUc.1482G>T (p.Trp494Cys)
c.820G>T (n.820G>T)
c.521G>T
c.651G>T (p.Trp217Cys)
c.483G>T (p.Trp161Cys)
c.1539G>T (p.Trp513Cys)
 gnomAD v4
17g.42543489A>CCA500217000NAGLUc.1483A>C (p.Arg495=)
c.821A>C (n.821A>C)
c.522A>C
c.652A>C (p.Arg218=)
c.484A>C (p.Arg162=)
c.1540A>C (p.Arg514=)
17g.42543489A>GCA399603956NAGLUc.1483A>G (p.Arg495Gly)
c.821A>G (n.821A>G)
c.522A>G
c.652A>G (p.Arg218Gly)
c.484A>G (p.Arg162Gly)
c.1540A>G (p.Arg514Gly)
17g.42543489A>TCA399603958NAGLUc.1483A>T (p.Arg495Trp)
c.821A>T (n.821A>T)
c.522A>T
c.652A>T (p.Arg218Trp)
c.484A>T (p.Arg162Trp)
c.1540A>T (p.Arg514Trp)
17g.42543490G>ACA399603960NAGLUc.1484G>A (p.Arg495Lys)
c.822G>A (n.822G>A)
c.523G>A
c.653G>A (p.Arg218Lys)
c.485G>A (p.Arg162Lys)
c.1541G>A (p.Arg514Lys)
 ClinVar gnomAD v4
17g.42543490G>CCA399603962NAGLUc.1484G>C (p.Arg495Thr)
c.822G>C (n.822G>C)
c.523G>C
c.653G>C (p.Arg218Thr)
c.485G>C (p.Arg162Thr)
c.1541G>C (p.Arg514Thr)
 dbSNP
17g.42543490G=CA2260530304NAGLUc.1484G= (p.Arg495=)
c.822G= (n.822G=)
c.523G=
c.653G= (p.Arg218=)
c.485G= (p.Arg162=)
c.1541G= (p.Arg514=)
17g.42543490G>TCA399603963NAGLUc.1484G>T (p.Arg495Met)
c.822G>T (n.822G>T)
c.523G>T
c.653G>T (p.Arg218Met)
c.485G>T (p.Arg162Met)
c.1541G>T (p.Arg514Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42543491G>ACA500217001NAGLUc.1485G>A (p.Arg495=)
c.823G>A (n.823G>A)
c.524G>A
c.654G>A (p.Arg218=)
c.486G>A (p.Arg162=)
c.1542G>A (p.Arg514=)
17g.42543491G>CCA399603966NAGLUc.1485G>C (p.Arg495Ser)
c.823G>C (n.823G>C)
c.524G>C
c.654G>C (p.Arg218Ser)
c.486G>C (p.Arg162Ser)
c.1542G>C (p.Arg514Ser)
17g.42543491G>TCA399603968NAGLUc.1485G>T (p.Arg495Ser)
c.823G>T (n.823G>T)
c.524G>T
c.654G>T (p.Arg218Ser)
c.486G>T (p.Arg162Ser)
c.1542G>T (p.Arg514Ser)
 ClinVar dbSNP gnomAD v4
17g.42543492C>ACA399603970NAGLUc.1486C>A (p.Leu496Ile)
c.824C>A (n.824C>A)
c.525C>A
c.655C>A (p.Leu219Ile)
c.487C>A (p.Leu163Ile)
c.1543C>A (p.Leu515Ile)
 gnomAD v4
17g.42543492C=CA2260530305NAGLUc.1486C= (p.Leu496=)
c.824C= (n.824C=)
c.525C=
c.655C= (p.Leu219=)
c.487C= (p.Leu163=)
c.1543C= (p.Leu515=)
17g.42543492C>GCA399603971NAGLUc.1486C>G (p.Leu496Val)
c.824C>G (n.824C>G)
c.525C>G
c.655C>G (p.Leu219Val)
c.487C>G (p.Leu163Val)
c.1543C>G (p.Leu515Val)
17g.42543492C>TCA500217002NAGLUc.1486C>T (p.Leu496=)
c.824C>T (n.824C>T)
c.525C>T
c.655C>T (p.Leu219=)
c.487C>T (p.Leu163=)
c.1543C>T (p.Leu515=)
 dbSNP gnomAD v2 gnomAD v4
17g.42543493delCA2695225864NAGLUc.1487del (p.Leu496HisfsTer30)
c.825del (n.825del)
c.526del
c.656del (p.Leu219HisfsTer30)
c.488del (p.Leu163HisfsTer30)
c.1544del (p.Leu515HisfsTer30)
17g.42543493T>ACA399603974NAGLUc.1487T>A (p.Leu496Gln)
c.825T>A (n.825T>A)
c.526T>A
c.656T>A (p.Leu219Gln)
c.488T>A (p.Leu163Gln)
c.1544T>A (p.Leu515Gln)
17g.42543493T>CCA8577035NAGLUc.1487T>C (p.Leu496Pro)
c.825T>C (n.825T>C)
c.526T>C
c.656T>C (p.Leu219Pro)
c.488T>C (p.Leu163Pro)
c.1544T>C (p.Leu515Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543493T>GCA399603975NAGLUc.1487T>G (p.Leu496Arg)
c.825T>G (n.825T>G)
c.526T>G
c.656T>G (p.Leu219Arg)
c.488T>G (p.Leu163Arg)
c.1544T>G (p.Leu515Arg)
17g.42543493T=CA2260530306NAGLUc.1487T= (p.Leu496=)
c.825T= (n.825T=)
c.526T=
c.656T= (p.Leu219=)
c.488T= (p.Leu163=)
c.1544T= (p.Leu515=)
17g.42543494A=CA2260530308NAGLUc.1488A= (p.Leu496=)
c.826A= (n.826A=)
c.527A=
c.657A= (p.Leu219=)
c.489A= (p.Leu163=)
c.1545A= (p.Leu515=)
17g.42543494A>CCA500217004NAGLUc.1488A>C (p.Leu496=)
c.826A>C (n.826A>C)
c.527A>C
c.657A>C (p.Leu219=)
c.489A>C (p.Leu163=)
c.1545A>C (p.Leu515=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42543494A>GCA8577036NAGLUc.1488A>G (p.Leu496=)
c.826A>G (n.826A>G)
c.527A>G
c.657A>G (p.Leu219=)
c.489A>G (p.Leu163=)
c.1545A>G (p.Leu515=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543494A>TCA500217003NAGLUc.1488A>T (p.Leu496=)
c.826A>T (n.826A>T)
c.527A>T
c.657A>T (p.Leu219=)
c.489A>T (p.Leu163=)
c.1545A>T (p.Leu515=)
17g.42543504_42543523dupCA2260530307NAGLUc.1498_1517dup (p.Glu507ValfsTer26)
c.836_855dup (n.836_855dup)
c.537_556dup
c.667_686dup (p.Glu230ValfsTer26)
c.499_518dup (p.Glu174ValfsTer26)
c.1555_1574dup (p.Glu526ValfsTer26)
 dbSNP
17g.42543504_42543523delCA2580094275NAGLUc.1498_1517del (p.Ser500GlyfsTer9)
c.836_855del (n.836_855del)
c.537_556del
c.667_686del (p.Ser223GlyfsTer9)
c.499_518del (p.Ser167GlyfsTer9)
c.1555_1574del (p.Ser519GlyfsTer9)
 ClinVar
17g.42543495C>ACA399603979NAGLUc.1489C>A (p.Leu497Met)
c.827C>A (n.827C>A)
c.528C>A
c.658C>A (p.Leu220Met)
c.490C>A (p.Leu164Met)
c.1546C>A (p.Leu516Met)
 gnomAD v4
17g.42543495C=CA2260530309NAGLUc.1489C= (p.Leu497=)
c.827C= (n.827C=)
c.528C=
c.658C= (p.Leu220=)
c.490C= (p.Leu164=)
c.1546C= (p.Leu516=)
17g.42543495C>GCA399603981NAGLUc.1489C>G (p.Leu497Val)
c.827C>G (n.827C>G)
c.528C>G
c.658C>G (p.Leu220Val)
c.490C>G (p.Leu164Val)
c.1546C>G (p.Leu516Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42543495C>TCA500217005NAGLUc.1489C>T (p.Leu497=)
c.827C>T (n.827C>T)
c.528C>T
c.658C>T (p.Leu220=)
c.490C>T (p.Leu164=)
c.1546C>T (p.Leu516=)
 ClinVar dbSNP
17g.42543496T>ACA399603983NAGLUc.1490T>A (p.Leu497Gln)
c.828T>A (n.828T>A)
c.529T>A
c.659T>A (p.Leu220Gln)
c.491T>A (p.Leu164Gln)
c.1547T>A (p.Leu516Gln)
 COSMIC
17g.42543496T>CCA399603985NAGLUc.1490T>C (p.Leu497Pro)
c.828T>C (n.828T>C)
c.529T>C
c.659T>C (p.Leu220Pro)
c.491T>C (p.Leu164Pro)
c.1547T>C (p.Leu516Pro)
 ClinVar dbSNP
17g.42543496T>GCA399603987NAGLUc.1490T>G (p.Leu497Arg)
c.828T>G (n.828T>G)
c.529T>G
c.659T>G (p.Leu220Arg)
c.491T>G (p.Leu164Arg)
c.1547T>G (p.Leu516Arg)
17g.42543496T=CA2260530310NAGLUc.1490T= (p.Leu497=)
c.828T= (n.828T=)
c.529T=
c.659T= (p.Leu220=)
c.491T= (p.Leu164=)
c.1547T= (p.Leu516=)
17g.42543497G>ACA500217007NAGLUc.1491G>A (p.Leu497=)
c.829G>A (n.829G>A)
c.530G>A
c.660G>A (p.Leu220=)
c.492G>A (p.Leu164=)
c.1548G>A (p.Leu516=)
17g.42543497G>CCA500217006NAGLUc.1491G>C (p.Leu497=)
c.829G>C (n.829G>C)
c.530G>C
c.660G>C (p.Leu220=)
c.492G>C (p.Leu164=)
c.1548G>C (p.Leu516=)
 ClinVar
17g.42543497G>TCA500217008NAGLUc.1491G>T (p.Leu497=)
c.829G>T (n.829G>T)
c.530G>T
c.660G>T (p.Leu220=)
c.492G>T (p.Leu164=)
c.1548G>T (p.Leu516=)
17g.42543498C>ACA399603989NAGLUc.1492C>A (p.Leu498Ile)
c.830C>A (n.830C>A)
c.531C>A
c.661C>A (p.Leu221Ile)
c.493C>A (p.Leu165Ile)
c.1549C>A (p.Leu517Ile)
 gnomAD v4
17g.42543498C>GCA399603990NAGLUc.1492C>G (p.Leu498Val)
c.830C>G (n.830C>G)
c.531C>G
c.661C>G (p.Leu221Val)
c.493C>G (p.Leu165Val)
c.1549C>G (p.Leu517Val)
17g.42543498C>TCA399603992NAGLUc.1492C>T (p.Leu498Phe)
c.830C>T (n.830C>T)
c.531C>T
c.661C>T (p.Leu221Phe)
c.493C>T (p.Leu165Phe)
c.1549C>T (p.Leu517Phe)
 gnomAD v4
17g.42543499T>ACA399603995NAGLUc.1493T>A (p.Leu498His)
c.831T>A (n.831T>A)
c.532T>A
c.662T>A (p.Leu221His)
c.494T>A (p.Leu165His)
c.1550T>A (p.Leu517His)
17g.42543499T>CCA399603996NAGLUc.1493T>C (p.Leu498Pro)
c.831T>C (n.831T>C)
c.532T>C
c.662T>C (p.Leu221Pro)
c.494T>C (p.Leu165Pro)
c.1550T>C (p.Leu517Pro)
 ClinVar
17g.42543499T>GCA399603998NAGLUc.1493T>G (p.Leu498Arg)
c.831T>G (n.831T>G)
c.532T>G
c.662T>G (p.Leu221Arg)
c.494T>G (p.Leu165Arg)
c.1550T>G (p.Leu517Arg)
17g.42543500C>ACA500217009NAGLUc.1494C>A (p.Leu498=)
c.832C>A (n.832C>A)
c.533C>A
c.663C>A (p.Leu221=)
c.495C>A (p.Leu165=)
c.1551C>A (p.Leu517=)
 gnomAD v4
17g.42543500C>GCA500217011NAGLUc.1494C>G (p.Leu498=)
c.832C>G (n.832C>G)
c.533C>G
c.663C>G (p.Leu221=)
c.495C>G (p.Leu165=)
c.1551C>G (p.Leu517=)
17g.42543500C>TCA500217010NAGLUc.1494C>T (p.Leu498=)
c.832C>T (n.832C>T)
c.533C>T
c.663C>T (p.Leu221=)
c.495C>T (p.Leu165=)
c.1551C>T (p.Leu517=)
17g.42543501C>ACA500217012NAGLUc.1495C>A (p.Arg499=)
c.833C>A (n.833C>A)
c.534C>A
c.664C>A (p.Arg222=)
c.496C>A (p.Arg166=)
c.1552C>A (p.Arg518=)
 gnomAD v4
17g.42543501C=CA2260530311NAGLUc.1495C= (p.Arg499=)
c.833C= (n.833C=)
c.534C=
c.664C= (p.Arg222=)
c.496C= (p.Arg166=)
c.1552C= (p.Arg518=)
17g.42543501C>GCA399604000NAGLUc.1495C>G (p.Arg499Gly)
c.833C>G (n.833C>G)
c.534C>G
c.664C>G (p.Arg222Gly)
c.496C>G (p.Arg166Gly)
c.1552C>G (p.Arg518Gly)
17g.42543501C>TCA8577037NAGLUc.1495C>T (p.Arg499Trp)
c.833C>T (n.833C>T)
c.534C>T
c.664C>T (p.Arg222Trp)
c.496C>T (p.Arg166Trp)
c.1552C>T (p.Arg518Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543502G>ACA8577038NAGLUc.1496G>A (p.Arg499Gln)
c.834G>A (n.834G>A)
c.535G>A
c.665G>A (p.Arg222Gln)
c.497G>A (p.Arg166Gln)
c.1553G>A (p.Arg518Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543502G>CCA399604004NAGLUc.1496G>C (p.Arg499Pro)
c.834G>C (n.834G>C)
c.535G>C
c.665G>C (p.Arg222Pro)
c.497G>C (p.Arg166Pro)
c.1553G>C (p.Arg518Pro)
 gnomAD v4
17g.42543502G=CA2260530312NAGLUc.1496G= (p.Arg499=)
c.834G= (n.834G=)
c.535G=
c.665G= (p.Arg222=)
c.497G= (p.Arg166=)
c.1553G= (p.Arg518=)
17g.42543502G>TCA399604005NAGLUc.1496G>T (p.Arg499Leu)
c.834G>T (n.834G>T)
c.535G>T
c.665G>T (p.Arg222Leu)
c.497G>T (p.Arg166Leu)
c.1553G>T (p.Arg518Leu)
 gnomAD v4
17g.42543503G>ACA500217015NAGLUc.1497G>A (p.Arg499=)
c.835G>A (n.835G>A)
c.536G>A
c.666G>A (p.Arg222=)
c.498G>A (p.Arg166=)
c.1554G>A (p.Arg518=)
 ClinVar
17g.42543503G>CCA500217013NAGLUc.1497G>C (p.Arg499=)
c.835G>C (n.835G>C)
c.536G>C
c.666G>C (p.Arg222=)
c.498G>C (p.Arg166=)
c.1554G>C (p.Arg518=)
17g.42543503G=CA2260530313NAGLUc.1497G= (p.Arg499=)
c.835G= (n.835G=)
c.536G=
c.666G= (p.Arg222=)
c.498G= (p.Arg166=)
c.1554G= (p.Arg518=)
17g.42543503G>TCA500217014NAGLUc.1497G>T (p.Arg499=)
c.835G>T (n.835G>T)
c.536G>T
c.666G>T (p.Arg222=)
c.498G>T (p.Arg166=)
c.1554G>T (p.Arg518=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42543504A>CCA399604008NAGLUc.1498A>C (p.Ser500Arg)
c.836A>C (n.836A>C)
c.537A>C
c.667A>C (p.Ser223Arg)
c.499A>C (p.Ser167Arg)
c.1555A>C (p.Ser519Arg)
17g.42543504A>GCA399604010NAGLUc.1498A>G (p.Ser500Gly)
c.836A>G (n.836A>G)
c.537A>G
c.667A>G (p.Ser223Gly)
c.499A>G (p.Ser167Gly)
c.1555A>G (p.Ser519Gly)
 gnomAD v4
17g.42543504A>TCA399604011NAGLUc.1498A>T (p.Ser500Cys)
c.836A>T (n.836A>T)
c.537A>T
c.667A>T (p.Ser223Cys)
c.499A>T (p.Ser167Cys)
c.1555A>T (p.Ser519Cys)
 gnomAD v4
17g.42543505G>ACA399604013NAGLUc.1499G>A (p.Ser500Asn)
c.837G>A (n.837G>A)
c.538G>A
c.668G>A (p.Ser223Asn)
c.500G>A (p.Ser167Asn)
c.1556G>A (p.Ser519Asn)
17g.42543505G>CCA399604014NAGLUc.1499G>C (p.Ser500Thr)
c.837G>C (n.837G>C)
c.538G>C
c.668G>C (p.Ser223Thr)
c.500G>C (p.Ser167Thr)
c.1556G>C (p.Ser519Thr)
17g.42543505G>TCA399604016NAGLUc.1499G>T (p.Ser500Ile)
c.837G>T (n.837G>T)
c.538G>T
c.668G>T (p.Ser223Ile)
c.500G>T (p.Ser167Ile)
c.1556G>T (p.Ser519Ile)
 gnomAD v4
17g.42543506T>ACA399604017NAGLUc.1500T>A (p.Ser500Arg)
c.838T>A (n.838T>A)
c.539T>A
c.669T>A (p.Ser223Arg)
c.501T>A (p.Ser167Arg)
c.1557T>A (p.Ser519Arg)
17g.42543506T>CCA500217016NAGLUc.1500T>C (p.Ser500=)
c.838T>C (n.838T>C)
c.539T>C
c.669T>C (p.Ser223=)
c.501T>C (p.Ser167=)
c.1557T>C (p.Ser519=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42543506T>GCA399604019NAGLUc.1500T>G (p.Ser500Arg)
c.838T>G (n.838T>G)
c.539T>G
c.669T>G (p.Ser223Arg)
c.501T>G (p.Ser167Arg)
c.1557T>G (p.Ser519Arg)
 dbSNP
17g.42543506T=CA2260530314NAGLUc.1500T= (p.Ser500=)
c.838T= (n.838T=)
c.539T=
c.669T= (p.Ser223=)
c.501T= (p.Ser167=)
c.1557T= (p.Ser519=)
17g.42543507G>ACA399604023NAGLUc.1501G>A (p.Val501Met)
c.839G>A (n.839G>A)
c.540G>A
c.670G>A (p.Val224Met)
c.502G>A (p.Val168Met)
c.1558G>A (p.Val520Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42543507G>CCA399604024NAGLUc.1501G>C (p.Val501Leu)
c.839G>C (n.839G>C)
c.540G>C
c.670G>C (p.Val224Leu)
c.502G>C (p.Val168Leu)
c.1558G>C (p.Val520Leu)
17g.42543507G=CA2260530315NAGLUc.1501G= (p.Val501=)
c.839G= (n.839G=)
c.540G=
c.670G= (p.Val224=)
c.502G= (p.Val168=)
c.1558G= (p.Val520=)
17g.42543507G>TCA399604021NAGLUc.1501G>T (p.Val501Leu)
c.839G>T (n.839G>T)
c.540G>T
c.670G>T (p.Val224Leu)
c.502G>T (p.Val168Leu)
c.1558G>T (p.Val520Leu)
 gnomAD v4
17g.42543508T>ACA399604027NAGLUc.1502T>A (p.Val501Glu)
c.840T>A (n.840T>A)
c.541T>A
c.671T>A (p.Val224Glu)
c.503T>A (p.Val168Glu)
c.1559T>A (p.Val520Glu)
17g.42543508T>CCA399604029NAGLUc.1502T>C (p.Val501Ala)
c.840T>C (n.840T>C)
c.541T>C
c.671T>C (p.Val224Ala)
c.503T>C (p.Val168Ala)
c.1559T>C (p.Val520Ala)
 gnomAD v4
17g.42543508T>GCA399604030NAGLUc.1502T>G (p.Val501Gly)
c.840T>G (n.840T>G)
c.541T>G
c.671T>G (p.Val224Gly)
c.503T>G (p.Val168Gly)
c.1559T>G (p.Val520Gly)
17g.42543509G>ACA8577039NAGLUc.1503G>A (p.Val501=)
c.841G>A (n.841G>A)
c.542G>A
c.672G>A (p.Val224=)
c.504G>A (p.Val168=)
c.1560G>A (p.Val520=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543509G>CCA500217017NAGLUc.1503G>C (p.Val501=)
c.841G>C (n.841G>C)
c.542G>C
c.672G>C (p.Val224=)
c.504G>C (p.Val168=)
c.1560G>C (p.Val520=)
17g.42543509G=CA2260530316NAGLUc.1503G= (p.Val501=)
c.841G= (n.841G=)
c.542G=
c.672G= (p.Val224=)
c.504G= (p.Val168=)
c.1560G= (p.Val520=)
17g.42543509G>TCA500217018NAGLUc.1503G>T (p.Val501=)
c.841G>T (n.841G>T)
c.542G>T
c.672G>T (p.Val224=)
c.504G>T (p.Val168=)
c.1560G>T (p.Val520=)
 gnomAD v4
17g.42543510T>ACA399604033NAGLUc.1504T>A (p.Tyr502Asn)
c.842T>A (n.842T>A)
c.543T>A
c.673T>A (p.Tyr225Asn)
c.505T>A (p.Tyr169Asn)
c.1561T>A (p.Tyr521Asn)
 dbSNP gnomAD v2 gnomAD v4
17g.42543510T>CCA399604035NAGLUc.1504T>C (p.Tyr502His)
c.842T>C (n.842T>C)
c.543T>C
c.673T>C (p.Tyr225His)
c.505T>C (p.Tyr169His)
c.1561T>C (p.Tyr521His)
 gnomAD v4
17g.42543510T>GCA399604037NAGLUc.1504T>G (p.Tyr502Asp)
c.842T>G (n.842T>G)
c.543T>G
c.673T>G (p.Tyr225Asp)
c.505T>G (p.Tyr169Asp)
c.1561T>G (p.Tyr521Asp)
17g.42543510T=CA2260530317NAGLUc.1504T= (p.Tyr502=)
c.842T= (n.842T=)
c.543T=
c.673T= (p.Tyr225=)
c.505T= (p.Tyr169=)
c.1561T= (p.Tyr521=)

Number of alleles fetched