Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.42538393C>ACA399598446NAGLUc.586C>A (p.Pro196Thr)
c.188C>A
c.181C>A (p.Pro61Thr)
c.-157C>A (n.-157C>A)
c.643C>A (p.Pro215Thr)
17g.42538393C=CA2260527828NAGLUc.586C= (p.Pro196=)
c.188C=
c.181C= (p.Pro61=)
c.-157C= (n.-157C=)
c.643C= (p.Pro215=)
17g.42538393C>GCA399598447NAGLUc.586C>G (p.Pro196Ala)
c.188C>G
c.181C>G (p.Pro61Ala)
c.-157C>G (n.-157C>G)
c.643C>G (p.Pro215Ala)
17g.42538393C>TCA399598448NAGLUc.586C>T (p.Pro196Ser)
c.188C>T
c.181C>T (p.Pro61Ser)
c.-157C>T (n.-157C>T)
c.643C>T (p.Pro215Ser)
 dbSNP gnomAD v3 gnomAD v4
17g.42538394C>ACA399598449NAGLUc.587C>A (p.Pro196His)
c.189C>A
c.182C>A (p.Pro61His)
c.-156C>A (n.-156C>A)
c.644C>A (p.Pro215His)
 dbSNP
17g.42538394C=CA2260527829NAGLUc.587C= (p.Pro196=)
c.189C=
c.182C= (p.Pro61=)
c.-156C= (n.-156C=)
c.644C= (p.Pro215=)
17g.42538394C>GCA399598451NAGLUc.587C>G (p.Pro196Arg)
c.189C>G
c.182C>G (p.Pro61Arg)
c.-156C>G (n.-156C>G)
c.644C>G (p.Pro215Arg)
17g.42538394C>TCA399598450NAGLUc.587C>T (p.Pro196Leu)
c.189C>T
c.182C>T (p.Pro61Leu)
c.-156C>T (n.-156C>T)
c.644C>T (p.Pro215Leu)
 ClinVar dbSNP gnomAD v4
17g.42538395T>ACA500216358NAGLUc.588T>A (p.Pro196=)
c.190T>A
c.183T>A (p.Pro61=)
c.-155T>A (n.-155T>A)
c.645T>A (p.Pro215=)
17g.42538395T>CCA500216360NAGLUc.588T>C (p.Pro196=)
c.190T>C
c.183T>C (p.Pro61=)
c.-155T>C (n.-155T>C)
c.645T>C (p.Pro215=)
17g.42538395T>GCA500216359NAGLUc.588T>G (p.Pro196=)
c.190T>G
c.183T>G (p.Pro61=)
c.-155T>G (n.-155T>G)
c.645T>G (p.Pro215=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42538395T=CA2260527830NAGLUc.588T= (p.Pro196=)
c.190T=
c.183T= (p.Pro61=)
c.-155T= (n.-155T=)
c.645T= (p.Pro215=)
17g.42538396G>ACA399598452NAGLUc.589G>A (p.Ala197Thr)
c.191G>A
c.184G>A (p.Ala62Thr)
c.-154G>A (n.-154G>A)
c.646G>A (p.Ala216Thr)
17g.42538396G>CCA399598453NAGLUc.589G>C (p.Ala197Pro)
c.191G>C
c.184G>C (p.Ala62Pro)
c.-154G>C (n.-154G>C)
c.646G>C (p.Ala216Pro)
 gnomAD v4
17g.42538396G>TCA399598454NAGLUc.589G>T (p.Ala197Ser)
c.191G>T
c.184G>T (p.Ala62Ser)
c.-154G>T (n.-154G>T)
c.646G>T (p.Ala216Ser)
17g.42538397C>ACA399598455NAGLUc.590C>A (p.Ala197Asp)
c.192C>A
c.185C>A (p.Ala62Asp)
c.-153C>A (n.-153C>A)
c.647C>A (p.Ala216Asp)
 gnomAD v4
17g.42538397C>GCA399598456NAGLUc.590C>G (p.Ala197Gly)
c.192C>G
c.185C>G (p.Ala62Gly)
c.-153C>G (n.-153C>G)
c.647C>G (p.Ala216Gly)
17g.42538397C>TCA399598457NAGLUc.590C>T (p.Ala197Val)
c.192C>T
c.185C>T (p.Ala62Val)
c.-153C>T (n.-153C>T)
c.647C>T (p.Ala216Val)
 COSMIC
17g.42538398C>ACA500216365NAGLUc.591C>A (p.Ala197=)
c.193C>A
c.186C>A (p.Ala62=)
c.-152C>A (n.-152C>A)
c.648C>A (p.Ala216=)
17g.42538398C>GCA500216362NAGLUc.591C>G (p.Ala197=)
c.193C>G
c.186C>G (p.Ala62=)
c.-152C>G (n.-152C>G)
c.648C>G (p.Ala216=)
17g.42538398C>TCA500216363NAGLUc.591C>T (p.Ala197=)
c.193C>T
c.186C>T (p.Ala62=)
c.-152C>T (n.-152C>T)
c.648C>T (p.Ala216=)
17g.42538399T>ACA399598461NAGLUc.592T>A (p.Phe198Ile)
c.194T>A
c.187T>A (p.Phe63Ile)
c.-151T>A (n.-151T>A)
c.649T>A (p.Phe217Ile)
17g.42538399T>CCA399598463NAGLUc.592T>C (p.Phe198Leu)
c.194T>C
c.187T>C (p.Phe63Leu)
c.-151T>C (n.-151T>C)
c.649T>C (p.Phe217Leu)
17g.42538399T>GCA399598465NAGLUc.592T>G (p.Phe198Val)
c.194T>G
c.187T>G (p.Phe63Val)
c.-151T>G (n.-151T>G)
c.649T>G (p.Phe217Val)
17g.42538400T>ACA8576799NAGLUc.593T>A (p.Phe198Tyr)
c.195T>A
c.188T>A (p.Phe63Tyr)
c.-150T>A (n.-150T>A)
c.650T>A (p.Phe217Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42538400T>CCA399598468NAGLUc.593T>C (p.Phe198Ser)
c.195T>C
c.188T>C (p.Phe63Ser)
c.-150T>C (n.-150T>C)
c.650T>C (p.Phe217Ser)
17g.42538400T>GCA399598470NAGLUc.593T>G (p.Phe198Cys)
c.195T>G
c.188T>G (p.Phe63Cys)
c.-150T>G (n.-150T>G)
c.650T>G (p.Phe217Cys)
17g.42538400T=CA2260527831NAGLUc.593T= (p.Phe198=)
c.195T=
c.188T= (p.Phe63=)
c.-150T= (n.-150T=)
c.650T= (p.Phe217=)
17g.42538401C>ACA399598472NAGLUc.594C>A (p.Phe198Leu)
c.196C>A
c.189C>A (p.Phe63Leu)
c.-149C>A (n.-149C>A)
c.651C>A (p.Phe217Leu)
17g.42538401C=CA2260527832NAGLUc.594C= (p.Phe198=)
c.196C=
c.189C= (p.Phe63=)
c.-149C= (n.-149C=)
c.651C= (p.Phe217=)
17g.42538401C>GCA399598473NAGLUc.594C>G (p.Phe198Leu)
c.196C>G
c.189C>G (p.Phe63Leu)
c.-149C>G (n.-149C>G)
c.651C>G (p.Phe217Leu)
17g.42538401C>TCA500216370NAGLUc.594C>T (p.Phe198=)
c.196C>T
c.189C>T (p.Phe63=)
c.-149C>T (n.-149C>T)
c.651C>T (p.Phe217=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42538402delCA2740095364NAGLUc.595del (p.Leu199TrpfsTer?)
c.197del
c.190del (p.Leu64TrpfsTer?)
c.-148del (n.-148del)
c.652del (p.Leu218TrpfsTer?)
 ClinVar
17g.42538402C>ACA399598475NAGLUc.595C>A (p.Leu199Met)
c.197C>A
c.190C>A (p.Leu64Met)
c.-148C>A (n.-148C>A)
c.652C>A (p.Leu218Met)
17g.42538402C>GCA399598477NAGLUc.595C>G (p.Leu199Val)
c.197C>G
c.190C>G (p.Leu64Val)
c.-148C>G (n.-148C>G)
c.652C>G (p.Leu218Val)
17g.42538402C>TCA500216372NAGLUc.595C>T (p.Leu199=)
c.197C>T
c.190C>T (p.Leu64=)
c.-148C>T (n.-148C>T)
c.652C>T (p.Leu218=)
17g.42538403T>ACA399598479NAGLUc.596T>A (p.Leu199Gln)
c.198T>A
c.191T>A (p.Leu64Gln)
c.-147T>A (n.-147T>A)
c.653T>A (p.Leu218Gln)
17g.42538403T>CCA399598481NAGLUc.596T>C (p.Leu199Pro)
c.198T>C
c.191T>C (p.Leu64Pro)
c.-147T>C (n.-147T>C)
c.653T>C (p.Leu218Pro)
17g.42538403T>GCA399598482NAGLUc.596T>G (p.Leu199Arg)
c.198T>G
c.191T>G (p.Leu64Arg)
c.-147T>G (n.-147T>G)
c.653T>G (p.Leu218Arg)
17g.42538404G>ACA500216376NAGLUc.597G>A (p.Leu199=)
c.199G>A
c.192G>A (p.Leu64=)
c.-146G>A (n.-146G>A)
c.654G>A (p.Leu218=)
17g.42538404G>CCA500216374NAGLUc.597G>C (p.Leu199=)
c.199G>C
c.192G>C (p.Leu64=)
c.-146G>C (n.-146G>C)
c.654G>C (p.Leu218=)
 dbSNP
17g.42538404G=CA2260527833NAGLUc.597G= (p.Leu199=)
c.199G=
c.192G= (p.Leu64=)
c.-146G= (n.-146G=)
c.654G= (p.Leu218=)
17g.42538404G>TCA500216375NAGLUc.597G>T (p.Leu199=)
c.199G>T
c.192G>T (p.Leu64=)
c.-146G>T (n.-146G>T)
c.654G>T (p.Leu218=)
17g.42538405G>ACA399598484NAGLUc.598G>A (p.Ala200Thr)
c.200G>A
c.193G>A (p.Ala65Thr)
c.-145G>A (n.-145G>A)
c.655G>A (p.Ala219Thr)
17g.42538405G>CCA399598486NAGLUc.598G>C (p.Ala200Pro)
c.200G>C
c.193G>C (p.Ala65Pro)
c.-145G>C (n.-145G>C)
c.655G>C (p.Ala219Pro)
 gnomAD v4
17g.42538405G>TCA399598487NAGLUc.598G>T (p.Ala200Ser)
c.200G>T
c.193G>T (p.Ala65Ser)
c.-145G>T (n.-145G>T)
c.655G>T (p.Ala219Ser)
17g.42538405_42538406delCA2576295372NAGLUc.598_599del (p.Ala200LeufsTer?)
c.200_201del
c.193_194del (p.Ala65LeufsTer?)
c.-145_-144del (n.-145_-144del)
c.655_656del (p.Ala219LeufsTer?)
17g.42538406C>ACA399598489NAGLUc.599C>A (p.Ala200Asp)
c.201C>A
c.194C>A (p.Ala65Asp)
c.-144C>A (n.-144C>A)
c.656C>A (p.Ala219Asp)
17g.42538406C>GCA399598491NAGLUc.599C>G (p.Ala200Gly)
c.201C>G
c.194C>G (p.Ala65Gly)
c.-144C>G (n.-144C>G)
c.656C>G (p.Ala219Gly)
17g.42538406C>TCA399598492NAGLUc.599C>T (p.Ala200Val)
c.201C>T
c.194C>T (p.Ala65Val)
c.-144C>T (n.-144C>T)
c.656C>T (p.Ala219Val)
17g.42538407C>ACA500216380NAGLUc.600C>A (p.Ala200=)
c.202C>A
c.195C>A (p.Ala65=)
c.-143C>A (n.-143C>A)
c.657C>A (p.Ala219=)
17g.42538407C>GCA500216381NAGLUc.600C>G (p.Ala200=)
c.202C>G
c.195C>G (p.Ala65=)
c.-143C>G (n.-143C>G)
c.657C>G (p.Ala219=)
17g.42538407C>TCA500216382NAGLUc.600C>T (p.Ala200=)
c.202C>T
c.195C>T (p.Ala65=)
c.-143C>T (n.-143C>T)
c.657C>T (p.Ala219=)
17g.42538408T>ACA399598494NAGLUc.601T>A (p.Trp201Arg)
c.203T>A
c.196T>A (p.Trp66Arg)
c.-142T>A (n.-142T>A)
c.658T>A (p.Trp220Arg)
17g.42538408T>CCA399598496NAGLUc.601T>C (p.Trp201Arg)
c.203T>C
c.196T>C (p.Trp66Arg)
c.-142T>C (n.-142T>C)
c.658T>C (p.Trp220Arg)
17g.42538408T>GCA399598498NAGLUc.601T>G (p.Trp201Gly)
c.203T>G
c.196T>G (p.Trp66Gly)
c.-142T>G (n.-142T>G)
c.658T>G (p.Trp220Gly)
 gnomAD v4
17g.42538409G>ACA399598500NAGLUc.602G>A (p.Trp201Ter)
c.204G>A
c.197G>A (p.Trp66Ter)
c.-141G>A (n.-141G>A)
c.659G>A (p.Trp220Ter)
17g.42538409G>CCA399598504NAGLUc.602G>C (p.Trp201Ser)
c.204G>C
c.197G>C (p.Trp66Ser)
c.-141G>C (n.-141G>C)
c.659G>C (p.Trp220Ser)
17g.42538409G>TCA399598502NAGLUc.602G>T (p.Trp201Leu)
c.204G>T
c.197G>T (p.Trp66Leu)
c.-141G>T (n.-141G>T)
c.659G>T (p.Trp220Leu)
17g.42538410G>ACA399598506NAGLUc.603G>A (p.Trp201Ter)
c.205G>A
c.198G>A (p.Trp66Ter)
c.-140G>A (n.-140G>A)
c.660G>A (p.Trp220Ter)
 ClinVar dbSNP
17g.42538410G>CCA399598509NAGLUc.603G>C (p.Trp201Cys)
c.205G>C
c.198G>C (p.Trp66Cys)
c.-140G>C (n.-140G>C)
c.660G>C (p.Trp220Cys)
17g.42538410G>TCA399598508NAGLUc.603G>T (p.Trp201Cys)
c.205G>T
c.198G>T (p.Trp66Cys)
c.-140G>T (n.-140G>T)
c.660G>T (p.Trp220Cys)
17g.42538411G>ACA8576800NAGLUc.604G>A (p.Gly202Arg)
c.206G>A
c.199G>A (p.Gly67Arg)
c.-139G>A (n.-139G>A)
c.661G>A (p.Gly221Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42538411G>CCA399598512NAGLUc.604G>C (p.Gly202Arg)
c.206G>C
c.199G>C (p.Gly67Arg)
c.-139G>C (n.-139G>C)
c.661G>C (p.Gly221Arg)
17g.42538411G=CA2260527834NAGLUc.604G= (p.Gly202=)
c.206G=
c.199G= (p.Gly67=)
c.-139G= (n.-139G=)
c.661G= (p.Gly221=)
17g.42538411G>TCA399598514NAGLUc.604G>T (p.Gly202Trp)
c.206G>T
c.199G>T (p.Gly67Trp)
c.-139G>T (n.-139G>T)
c.661G>T (p.Gly221Trp)
17g.42538412G>ACA290773120NAGLUc.605G>A (p.Gly202Glu)
c.207G>A
c.200G>A (p.Gly67Glu)
c.-138G>A (n.-138G>A)
c.662G>A (p.Gly221Glu)
 dbSNP gnomAD v4
17g.42538412G>CCA399598516NAGLUc.605G>C (p.Gly202Ala)
c.207G>C
c.200G>C (p.Gly67Ala)
c.-138G>C (n.-138G>C)
c.662G>C (p.Gly221Ala)
 gnomAD v4
17g.42538412G=CA2260527835NAGLUc.605G= (p.Gly202=)
c.207G=
c.200G= (p.Gly67=)
c.-138G= (n.-138G=)
c.662G= (p.Gly221=)
17g.42538412G>TCA399598518NAGLUc.605G>T (p.Gly202Val)
c.207G>T
c.200G>T (p.Gly67Val)
c.-138G>T (n.-138G>T)
c.662G>T (p.Gly221Val)
17g.42538413G>ACA290773124NAGLUc.606G>A (p.Gly202=)
c.208G>A
c.201G>A (p.Gly67=)
c.-137G>A (n.-137G>A)
c.663G>A (p.Gly221=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42538413G>CCA500216387NAGLUc.606G>C (p.Gly202=)
c.208G>C
c.201G>C (p.Gly67=)
c.-137G>C (n.-137G>C)
c.663G>C (p.Gly221=)
17g.42538413G=CA2260527836NAGLUc.606G= (p.Gly202=)
c.208G=
c.201G= (p.Gly67=)
c.-137G= (n.-137G=)
c.663G= (p.Gly221=)
17g.42538413G>TCA500216384NAGLUc.606G>T (p.Gly202=)
c.208G>T
c.201G>T (p.Gly67=)
c.-137G>T (n.-137G>T)
c.663G>T (p.Gly221=)
17g.42538414C>ACA500216388NAGLUc.607C>A (p.Arg203=)
c.209C>A
c.202C>A (p.Arg68=)
c.-136C>A (n.-136C>A)
c.664C>A (p.Arg222=)
 ClinVar
17g.42538414C=CA2260527837NAGLUc.607C= (p.Arg203=)
c.209C=
c.202C= (p.Arg68=)
c.-136C= (n.-136C=)
c.664C= (p.Arg222=)
17g.42538414C>GCA399598521NAGLUc.607C>G (p.Arg203Gly)
c.209C>G
c.202C>G (p.Arg68Gly)
c.-136C>G (n.-136C>G)
c.664C>G (p.Arg222Gly)
17g.42538414C>TCA399598523NAGLUc.607C>T (p.Arg203Ter)
c.209C>T
c.202C>T (p.Arg68Ter)
c.-136C>T (n.-136C>T)
c.664C>T (p.Arg222Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42538415G>ACA290773146NAGLUc.608G>A (p.Arg203Gln)
c.210G>A
c.203G>A (p.Arg68Gln)
c.-135G>A (n.-135G>A)
c.665G>A (p.Arg222Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42538415G>CCA290773128NAGLUc.608G>C (p.Arg203Pro)
c.210G>C
c.203G>C (p.Arg68Pro)
c.-135G>C (n.-135G>C)
c.665G>C (p.Arg222Pro)
 dbSNP gnomAD v4
17g.42538415G=CA2260527838NAGLUc.608G= (p.Arg203=)
c.210G=
c.203G= (p.Arg68=)
c.-135G= (n.-135G=)
c.665G= (p.Arg222=)
17g.42538415G>TCA399598526NAGLUc.608G>T (p.Arg203Leu)
c.210G>T
c.203G>T (p.Arg68Leu)
c.-135G>T (n.-135G>T)
c.665G>T (p.Arg222Leu)
17g.42538416A>CCA500216393NAGLUc.609A>C (p.Arg203=)
c.211A>C
c.204A>C (p.Arg68=)
c.-134A>C (n.-134A>C)
c.666A>C (p.Arg222=)
17g.42538416A>GCA500216395NAGLUc.609A>G (p.Arg203=)
c.211A>G
c.204A>G (p.Arg68=)
c.-134A>G (n.-134A>G)
c.666A>G (p.Arg222=)
17g.42538416A>TCA500216396NAGLUc.609A>T (p.Arg203=)
c.211A>T
c.204A>T (p.Arg68=)
c.-134A>T (n.-134A>T)
c.666A>T (p.Arg222=)
17g.42538417A>CCA399598528NAGLUc.610A>C (p.Met204Leu)
c.212A>C
c.205A>C (p.Met69Leu)
c.-133A>C (n.-133A>C)
c.667A>C (p.Met223Leu)
17g.42538417A>GCA399598531NAGLUc.610A>G (p.Met204Val)
c.212A>G
c.205A>G (p.Met69Val)
c.-133A>G (n.-133A>G)
c.667A>G (p.Met223Val)
 ClinVar dbSNP
17g.42538417A>TCA399598530NAGLUc.610A>T (p.Met204Leu)
c.212A>T
c.205A>T (p.Met69Leu)
c.-133A>T (n.-133A>T)
c.667A>T (p.Met223Leu)
17g.42538418T>ACA399598534NAGLUc.611T>A (p.Met204Lys)
c.213T>A
c.206T>A (p.Met69Lys)
c.-132T>A (n.-132T>A)
c.668T>A (p.Met223Lys)
17g.42538418T>CCA399598535NAGLUc.611T>C (p.Met204Thr)
c.213T>C
c.206T>C (p.Met69Thr)
c.-132T>C (n.-132T>C)
c.668T>C (p.Met223Thr)
17g.42538418T>GCA290773150NAGLUc.611T>G (p.Met204Arg)
c.213T>G
c.206T>G (p.Met69Arg)
c.-132T>G (n.-132T>G)
c.668T>G (p.Met223Arg)
 dbSNP gnomAD v4
17g.42538418T=CA2260527839NAGLUc.611T= (p.Met204=)
c.213T=
c.206T= (p.Met69=)
c.-132T= (n.-132T=)
c.668T= (p.Met223=)
17g.42538419G>ACA399598538NAGLUc.612G>A (p.Met204Ile)
c.214G>A
c.207G>A (p.Met69Ile)
c.-131G>A (n.-131G>A)
c.669G>A (p.Met223Ile)
17g.42538419G>CCA399598539NAGLUc.612G>C (p.Met204Ile)
c.214G>C
c.207G>C (p.Met69Ile)
c.-131G>C (n.-131G>C)
c.669G>C (p.Met223Ile)
17g.42538419G=CA2260527840NAGLUc.612G= (p.Met204=)
c.214G=
c.207G= (p.Met69=)
c.-131G= (n.-131G=)
c.669G= (p.Met223=)
17g.42538419G>TCA8576801NAGLUc.612G>T (p.Met204Ile)
c.214G>T
c.207G>T (p.Met69Ile)
c.-131G>T (n.-131G>T)
c.669G>T (p.Met223Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42538420G>ACA399598542NAGLUc.613G>A (p.Gly205Ser)
c.215G>A
c.208G>A (p.Gly70Ser)
c.-130G>A (n.-130G>A)
c.670G>A (p.Gly224Ser)
17g.42538420G>CCA399598544NAGLUc.613G>C (p.Gly205Arg)
c.215G>C
c.208G>C (p.Gly70Arg)
c.-130G>C (n.-130G>C)
c.670G>C (p.Gly224Arg)
17g.42538420G>TCA399598545NAGLUc.613G>T (p.Gly205Cys)
c.215G>T
c.208G>T (p.Gly70Cys)
c.-130G>T (n.-130G>T)
c.670G>T (p.Gly224Cys)
17g.42538421G>ACA399598548NAGLUc.614G>A (p.Gly205Asp)
c.216G>A
c.209G>A (p.Gly70Asp)
c.-129G>A (n.-129G>A)
c.671G>A (p.Gly224Asp)
17g.42538421G>CCA399598550NAGLUc.614G>C (p.Gly205Ala)
c.216G>C
c.209G>C (p.Gly70Ala)
c.-129G>C (n.-129G>C)
c.671G>C (p.Gly224Ala)
 ClinVar
17g.42538421G>TCA399598547NAGLUc.614G>T (p.Gly205Val)
c.216G>T
c.209G>T (p.Gly70Val)
c.-129G>T (n.-129G>T)
c.671G>T (p.Gly224Val)
17g.42538422C>ACA500216402NAGLUc.615C>A (p.Gly205=)
c.217C>A
c.210C>A (p.Gly70=)
c.-128C>A (n.-128C>A)
c.672C>A (p.Gly224=)
17g.42538422C>GCA500216400NAGLUc.615C>G (p.Gly205=)
c.217C>G
c.210C>G (p.Gly70=)
c.-128C>G (n.-128C>G)
c.672C>G (p.Gly224=)
17g.42538422C>TCA500216401NAGLUc.615C>T (p.Gly205=)
c.217C>T
c.210C>T (p.Gly70=)
c.-128C>T (n.-128C>T)
c.672C>T (p.Gly224=)
 ClinVar
17g.42538423A>CCA399598552NAGLUc.616A>C (p.Asn206His)
c.218A>C
c.211A>C (p.Asn71His)
c.-127A>C (n.-127A>C)
c.673A>C (p.Asn225His)
17g.42538423A>GCA399598554NAGLUc.616A>G (p.Asn206Asp)
c.218A>G
c.211A>G (p.Asn71Asp)
c.-127A>G (n.-127A>G)
c.673A>G (p.Asn225Asp)
17g.42538423A>TCA399598556NAGLUc.616A>T (p.Asn206Tyr)
c.218A>T
c.211A>T (p.Asn71Tyr)
c.-127A>T (n.-127A>T)
c.673A>T (p.Asn225Tyr)
17g.42538424A=CA2260527841NAGLUc.617A= (p.Asn206=)
c.219A=
c.212A= (p.Asn71=)
c.-126A= (n.-126A=)
c.674A= (p.Asn225=)
17g.42538424A>CCA399598560NAGLUc.617A>C (p.Asn206Thr)
c.219A>C
c.212A>C (p.Asn71Thr)
c.-126A>C (n.-126A>C)
c.674A>C (p.Asn225Thr)
 dbSNP gnomAD v3 gnomAD v4
17g.42538424A>GCA399598562NAGLUc.617A>G (p.Asn206Ser)
c.219A>G
c.212A>G (p.Asn71Ser)
c.-126A>G (n.-126A>G)
c.674A>G (p.Asn225Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42538424A>TCA399598563NAGLUc.617A>T (p.Asn206Ile)
c.219A>T
c.212A>T (p.Asn71Ile)
c.-126A>T (n.-126A>T)
c.674A>T (p.Asn225Ile)
17g.42538425C>ACA399598565NAGLUc.618C>A (p.Asn206Lys)
c.220C>A
c.213C>A (p.Asn71Lys)
c.-125C>A (n.-125C>A)
c.675C>A (p.Asn225Lys)
17g.42538425C>GCA399598566NAGLUc.618C>G (p.Asn206Lys)
c.220C>G
c.213C>G (p.Asn71Lys)
c.-125C>G (n.-125C>G)
c.675C>G (p.Asn225Lys)
17g.42538425C>TCA500216406NAGLUc.618C>T (p.Asn206=)
c.220C>T
c.213C>T (p.Asn71=)
c.-125C>T (n.-125C>T)
c.675C>T (p.Asn225=)
 ClinVar dbSNP gnomAD v4
17g.42538426C>ACA290773156NAGLUc.619C>A (p.Leu207Met)
c.221C>A
c.214C>A (p.Leu72Met)
c.-124C>A (n.-124C>A)
c.676C>A (p.Leu226Met)
 dbSNP
17g.42538426C=CA2260527842NAGLUc.619C= (p.Leu207=)
c.221C=
c.214C= (p.Leu72=)
c.-124C= (n.-124C=)
c.676C= (p.Leu226=)
17g.42538426C>GCA399598569NAGLUc.619C>G (p.Leu207Val)
c.221C>G
c.214C>G (p.Leu72Val)
c.-124C>G (n.-124C>G)
c.676C>G (p.Leu226Val)
 ClinVar
17g.42538426C>TCA500216407NAGLUc.619C>T (p.Leu207=)
c.221C>T
c.214C>T (p.Leu72=)
c.-124C>T (n.-124C>T)
c.676C>T (p.Leu226=)
 ClinVar dbSNP gnomAD v4
17g.42538427T>ACA399598572NAGLUc.620T>A (p.Leu207Gln)
c.222T>A
c.215T>A (p.Leu72Gln)
c.-123T>A (n.-123T>A)
c.677T>A (p.Leu226Gln)
 gnomAD v4
17g.42538427T>CCA399598573NAGLUc.620T>C (p.Leu207Pro)
c.222T>C
c.215T>C (p.Leu72Pro)
c.-123T>C (n.-123T>C)
c.677T>C (p.Leu226Pro)
 gnomAD v4
17g.42538427T>GCA399598574NAGLUc.620T>G (p.Leu207Arg)
c.222T>G
c.215T>G (p.Leu72Arg)
c.-123T>G (n.-123T>G)
c.677T>G (p.Leu226Arg)
17g.42538428G>ACA500216411NAGLUc.621G>A (p.Leu207=)
c.223G>A
c.216G>A (p.Leu72=)
c.-122G>A (n.-122G>A)
c.678G>A (p.Leu226=)
 ClinVar gnomAD v4
17g.42538428G>CCA500216410NAGLUc.621G>C (p.Leu207=)
c.223G>C
c.216G>C (p.Leu72=)
c.-122G>C (n.-122G>C)
c.678G>C (p.Leu226=)
17g.42538428G>TCA500216412NAGLUc.621G>T (p.Leu207=)
c.223G>T
c.216G>T (p.Leu72=)
c.-122G>T (n.-122G>T)
c.678G>T (p.Leu226=)
17g.42538429C>ACA399598580NAGLUc.622C>A (p.His208Asn)
c.224C>A
c.217C>A (p.His73Asn)
c.-121C>A (n.-121C>A)
c.679C>A (p.His227Asn)
17g.42538429C>GCA399598578NAGLUc.622C>G (p.His208Asp)
c.224C>G
c.217C>G (p.His73Asp)
c.-121C>G (n.-121C>G)
c.679C>G (p.His227Asp)
17g.42538429C>TCA399598576NAGLUc.622C>T (p.His208Tyr)
c.224C>T
c.217C>T (p.His73Tyr)
c.-121C>T (n.-121C>T)
c.679C>T (p.His227Tyr)
 gnomAD v4
17g.42538430_42538433dupCA2580613140NAGLUc.623_626dup (p.Trp210HisfsTer?)
c.225_228dup
c.218_221dup (p.Trp75HisfsTer?)
c.-120_-117dup (n.-120_-117dup)
c.680_683dup (p.Trp229HisfsTer?)
 ClinVar dbSNP
17g.42538430A>CCA399598582NAGLUc.623A>C (p.His208Pro)
c.225A>C
c.218A>C (p.His73Pro)
c.-120A>C (n.-120A>C)
c.680A>C (p.His227Pro)
17g.42538430A>GCA399598584NAGLUc.623A>G (p.His208Arg)
c.225A>G
c.218A>G (p.His73Arg)
c.-120A>G (n.-120A>G)
c.680A>G (p.His227Arg)
17g.42538430A>TCA399598586NAGLUc.623A>T (p.His208Leu)
c.225A>T
c.218A>T (p.His73Leu)
c.-120A>T (n.-120A>T)
c.680A>T (p.His227Leu)
17g.42538431C>ACA399598588NAGLUc.624C>A (p.His208Gln)
c.226C>A
c.219C>A (p.His73Gln)
c.-119C>A (n.-119C>A)
c.681C>A (p.His227Gln)
17g.42538431C>GCA399598589NAGLUc.624C>G (p.His208Gln)
c.226C>G
c.219C>G (p.His73Gln)
c.-119C>G (n.-119C>G)
c.681C>G (p.His227Gln)
17g.42538431C>TCA500216415NAGLUc.624C>T (p.His208=)
c.226C>T
c.219C>T (p.His73=)
c.-119C>T (n.-119C>T)
c.681C>T (p.His227=)
17g.42538432A>CCA399598591NAGLUc.625A>C (p.Thr209Pro)
c.227A>C
c.220A>C (p.Thr74Pro)
c.-118A>C (n.-118A>C)
c.682A>C (p.Thr228Pro)
17g.42538432A>GCA399598593NAGLUc.625A>G (p.Thr209Ala)
c.227A>G
c.220A>G (p.Thr74Ala)
c.-118A>G (n.-118A>G)
c.682A>G (p.Thr228Ala)
17g.42538432A>TCA399598595NAGLUc.625A>T (p.Thr209Ser)
c.227A>T
c.220A>T (p.Thr74Ser)
c.-118A>T (n.-118A>T)
c.682A>T (p.Thr228Ser)
17g.42538433C>ACA399598597NAGLUc.626C>A (p.Thr209Asn)
c.228C>A
c.221C>A (p.Thr74Asn)
c.-117C>A (n.-117C>A)
c.683C>A (p.Thr228Asn)
17g.42538433C>GCA399598598NAGLUc.626C>G (p.Thr209Ser)
c.228C>G
c.221C>G (p.Thr74Ser)
c.-117C>G (n.-117C>G)
c.683C>G (p.Thr228Ser)
17g.42538433C>TCA399598600NAGLUc.626C>T (p.Thr209Ile)
c.228C>T
c.221C>T (p.Thr74Ile)
c.-117C>T (n.-117C>T)
c.683C>T (p.Thr228Ile)
 ClinVar dbSNP
17g.42538434C>ACA500216420NAGLUc.627C>A (p.Thr209=)
c.229C>A
c.222C>A (p.Thr74=)
c.-116C>A (n.-116C>A)
c.684C>A (p.Thr228=)
17g.42538434C=CA2260527843NAGLUc.627C= (p.Thr209=)
c.229C=
c.222C= (p.Thr74=)
c.-116C= (n.-116C=)
c.684C= (p.Thr228=)
17g.42538434C>GCA8576802NAGLUc.627C>G (p.Thr209=)
c.229C>G
c.222C>G (p.Thr74=)
c.-116C>G (n.-116C>G)
c.684C>G (p.Thr228=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42538434C>TCA500216419NAGLUc.627C>T (p.Thr209=)
c.229C>T
c.222C>T (p.Thr74=)
c.-116C>T (n.-116C>T)
c.684C>T (p.Thr228=)
 gnomAD v4
17g.42538435T>ACA399598603NAGLUc.628T>A (p.Trp210Arg)
c.230T>A
c.223T>A (p.Trp75Arg)
c.-115T>A (n.-115T>A)
c.685T>A (p.Trp229Arg)
17g.42538435T>CCA399598606NAGLUc.628T>C (p.Trp210Arg)
c.230T>C
c.223T>C (p.Trp75Arg)
c.-115T>C (n.-115T>C)
c.685T>C (p.Trp229Arg)
17g.42538435T>GCA399598605NAGLUc.628T>G (p.Trp210Gly)
c.230T>G
c.223T>G (p.Trp75Gly)
c.-115T>G (n.-115T>G)
c.685T>G (p.Trp229Gly)
17g.42538436G>ACA399598607NAGLUc.629G>A (p.Trp210Ter)
c.231G>A
c.224G>A (p.Trp75Ter)
c.-114G>A (n.-114G>A)
c.686G>A (p.Trp229Ter)
 ClinVar dbSNP
17g.42538436G>CCA399598609NAGLUc.629G>C (p.Trp210Ser)
c.231G>C
c.224G>C (p.Trp75Ser)
c.-114G>C (n.-114G>C)
c.686G>C (p.Trp229Ser)
17g.42538436G=CA2260527844NAGLUc.629G= (p.Trp210=)
c.231G=
c.224G= (p.Trp75=)
c.-114G= (n.-114G=)
c.686G= (p.Trp229=)
17g.42538436G>TCA399598608NAGLUc.629G>T (p.Trp210Leu)
c.231G>T
c.224G>T (p.Trp75Leu)
c.-114G>T (n.-114G>T)
c.686G>T (p.Trp229Leu)
17g.42538437G>ACA399598611NAGLUc.630G>A (p.Trp210Ter)
c.232G>A
c.225G>A (p.Trp75Ter)
c.-113G>A (n.-113G>A)
c.687G>A (p.Trp229Ter)
17g.42538437G>CCA399598614NAGLUc.630G>C (p.Trp210Cys)
c.232G>C
c.225G>C (p.Trp75Cys)
c.-113G>C (n.-113G>C)
c.687G>C (p.Trp229Cys)
 dbSNP
17g.42538437G=CA2260527845NAGLUc.630G= (p.Trp210=)
c.232G=
c.225G= (p.Trp75=)
c.-113G= (n.-113G=)
c.687G= (p.Trp229=)
17g.42538437G>TCA399598613NAGLUc.630G>T (p.Trp210Cys)
c.232G>T
c.225G>T (p.Trp75Cys)
c.-113G>T (n.-113G>T)
c.687G>T (p.Trp229Cys)
 gnomAD v4
17g.42538437_42538438delinsAACA645588243NAGLUc.630_631delinsAA (p.Trp210Ter)
c.232_233delinsAA
c.225_226delinsAA (p.Trp75Ter)
c.-113_-112delinsAA (n.-113_-112delinsAA)
c.687_688delinsAA (p.Trp229Ter)
 COSMIC
17g.42538438G>ACA8576803NAGLUc.631G>A (p.Asp211Asn)
c.233G>A
c.226G>A (p.Asp76Asn)
c.-112G>A (n.-112G>A)
c.688G>A (p.Asp230Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42538438G>CCA290773182NAGLUc.631G>C (p.Asp211His)
c.233G>C
c.226G>C (p.Asp76His)
c.-112G>C (n.-112G>C)
c.688G>C (p.Asp230His)
 dbSNP
17g.42538438G=CA2260527846NAGLUc.631G= (p.Asp211=)
c.233G=
c.226G= (p.Asp76=)
c.-112G= (n.-112G=)
c.688G= (p.Asp230=)
17g.42538438G>TCA399598617NAGLUc.631G>T (p.Asp211Tyr)
c.233G>T
c.226G>T (p.Asp76Tyr)
c.-112G>T (n.-112G>T)
c.688G>T (p.Asp230Tyr)
17g.42538439A>CCA399598620NAGLUc.632A>C (p.Asp211Ala)
c.234A>C
c.227A>C (p.Asp76Ala)
c.-111A>C (n.-111A>C)
c.689A>C (p.Asp230Ala)
17g.42538439A>GCA399598623NAGLUc.632A>G (p.Asp211Gly)
c.234A>G
c.227A>G (p.Asp76Gly)
c.-111A>G (n.-111A>G)
c.689A>G (p.Asp230Gly)
17g.42538439A>TCA399598622NAGLUc.632A>T (p.Asp211Val)
c.234A>T
c.227A>T (p.Asp76Val)
c.-111A>T (n.-111A>T)
c.689A>T (p.Asp230Val)
17g.42538440T>ACA399598626NAGLUc.633T>A (p.Asp211Glu)
c.235T>A
c.228T>A (p.Asp76Glu)
c.-110T>A (n.-110T>A)
c.690T>A (p.Asp230Glu)
17g.42538440T>CCA500216428NAGLUc.633T>C (p.Asp211=)
c.235T>C
c.228T>C (p.Asp76=)
c.-110T>C (n.-110T>C)
c.690T>C (p.Asp230=)
17g.42538440T>GCA399598628NAGLUc.633T>G (p.Asp211Glu)
c.235T>G
c.228T>G (p.Asp76Glu)
c.-110T>G (n.-110T>G)
c.690T>G (p.Asp230Glu)
17g.42538441G>ACA399598630NAGLUc.634G>A (p.Gly212Ser)
c.236G>A
c.229G>A (p.Gly77Ser)
c.-109G>A (n.-109G>A)
c.691G>A (p.Gly231Ser)
17g.42538441G>CCA399598633NAGLUc.634G>C (p.Gly212Arg)
c.236G>C
c.229G>C (p.Gly77Arg)
c.-109G>C (n.-109G>C)
c.691G>C (p.Gly231Arg)
17g.42538441G>TCA399598632NAGLUc.634G>T (p.Gly212Cys)
c.236G>T
c.229G>T (p.Gly77Cys)
c.-109G>T (n.-109G>T)
c.691G>T (p.Gly231Cys)
17g.42538442G>ACA399598636NAGLUc.635G>A (p.Gly212Asp)
c.237G>A
c.230G>A (p.Gly77Asp)
c.-108G>A (n.-108G>A)
c.692G>A (p.Gly231Asp)
17g.42538442G>CCA399598639NAGLUc.635G>C (p.Gly212Ala)
c.237G>C
c.230G>C (p.Gly77Ala)
c.-108G>C (n.-108G>C)
c.692G>C (p.Gly231Ala)
17g.42538442G>TCA399598637NAGLUc.635G>T (p.Gly212Val)
c.237G>T
c.230G>T (p.Gly77Val)
c.-108G>T (n.-108G>T)
c.692G>T (p.Gly231Val)
 gnomAD v4
17g.42538443C>ACA500216431NAGLUc.636C>A (p.Gly212=)
c.238C>A
c.231C>A (p.Gly77=)
c.-107C>A (n.-107C>A)
c.693C>A (p.Gly231=)
17g.42538443C>GCA500216433NAGLUc.636C>G (p.Gly212=)
c.238C>G
c.231C>G (p.Gly77=)
c.-107C>G (n.-107C>G)
c.693C>G (p.Gly231=)
17g.42538443C>TCA500216432NAGLUc.636C>T (p.Gly212=)
c.238C>T
c.231C>T (p.Gly77=)
c.-107C>T (n.-107C>T)
c.693C>T (p.Gly231=)
17g.42538447dupCA2573153965NAGLUc.640dup (p.Leu214ProfsTer?)
c.242dup
c.235dup (p.Leu79ProfsTer?)
c.-103dup (n.-103dup)
c.697dup (p.Leu233ProfsTer?)
 ClinVar dbSNP
17g.42538444C>ACA399598642NAGLUc.637C>A (p.Pro213Thr)
c.239C>A
c.232C>A (p.Pro78Thr)
c.-106C>A (n.-106C>A)
c.694C>A (p.Pro232Thr)
 gnomAD v4
17g.42538444C>GCA399598645NAGLUc.637C>G (p.Pro213Ala)
c.239C>G
c.232C>G (p.Pro78Ala)
c.-106C>G (n.-106C>G)
c.694C>G (p.Pro232Ala)
17g.42538444C>TCA399598644NAGLUc.637C>T (p.Pro213Ser)
c.239C>T
c.232C>T (p.Pro78Ser)
c.-106C>T (n.-106C>T)
c.694C>T (p.Pro232Ser)
17g.42538445C>ACA399598648NAGLUc.638C>A (p.Pro213His)
c.240C>A
c.233C>A (p.Pro78His)
c.-105C>A (n.-105C>A)
c.695C>A (p.Pro232His)
17g.42538445C>GCA399598651NAGLUc.638C>G (p.Pro213Arg)
c.240C>G
c.233C>G (p.Pro78Arg)
c.-105C>G (n.-105C>G)
c.695C>G (p.Pro232Arg)
17g.42538445C>TCA399598650NAGLUc.638C>T (p.Pro213Leu)
c.240C>T
c.233C>T (p.Pro78Leu)
c.-105C>T (n.-105C>T)
c.695C>T (p.Pro232Leu)
 ClinVar gnomAD v4
17g.42538446C>ACA500216434NAGLUc.639C>A (p.Pro213=)
c.241C>A
c.234C>A (p.Pro78=)
c.-104C>A (n.-104C>A)
c.696C>A (p.Pro232=)
17g.42538446C>GCA500216435NAGLUc.639C>G (p.Pro213=)
c.241C>G
c.234C>G (p.Pro78=)
c.-104C>G (n.-104C>G)
c.696C>G (p.Pro232=)
17g.42538446C>TCA500216436NAGLUc.639C>T (p.Pro213=)
c.241C>T
c.234C>T (p.Pro78=)
c.-104C>T (n.-104C>T)
c.696C>T (p.Pro232=)
17g.42538447C>ACA399598654NAGLUc.640C>A (p.Leu214Met)
c.242C>A
c.235C>A (p.Leu79Met)
c.-103C>A (n.-103C>A)
c.697C>A (p.Leu233Met)
17g.42538447C>GCA399598655NAGLUc.640C>G (p.Leu214Val)
c.242C>G
c.235C>G (p.Leu79Val)
c.-103C>G (n.-103C>G)
c.697C>G (p.Leu233Val)
17g.42538447C>TCA500216437NAGLUc.640C>T (p.Leu214=)
c.242C>T
c.235C>T (p.Leu79=)
c.-103C>T (n.-103C>T)
c.697C>T (p.Leu233=)
17g.42538448delCA2576295373NAGLUc.641del (p.Leu214ArgfsTer25)
c.243del
c.236del (p.Leu79ArgfsTer25)
c.-102del (n.-102del)
c.698del (p.Leu233ArgfsTer25)
 ClinVar gnomAD v4
17g.42538448T>ACA399598657NAGLUc.641T>A (p.Leu214Gln)
c.243T>A
c.236T>A (p.Leu79Gln)
c.-102T>A (n.-102T>A)
c.698T>A (p.Leu233Gln)
17g.42538448T>CCA399598658NAGLUc.641T>C (p.Leu214Pro)
c.243T>C
c.236T>C (p.Leu79Pro)
c.-102T>C (n.-102T>C)
c.698T>C (p.Leu233Pro)
17g.42538448T>GCA399598660NAGLUc.641T>G (p.Leu214Arg)
c.243T>G
c.236T>G (p.Leu79Arg)
c.-102T>G (n.-102T>G)
c.698T>G (p.Leu233Arg)
17g.42538448T=CA2260527847NAGLUc.641T= (p.Leu214=)
c.243T=
c.236T= (p.Leu79=)
c.-102T= (n.-102T=)
c.698T= (p.Leu233=)
17g.42538449G>ACA8576805NAGLUc.642G>A (p.Leu214=)
c.244G>A
c.237G>A (p.Leu79=)
c.-101G>A (n.-101G>A)
c.699G>A (p.Leu233=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42538449G>CCA500216440NAGLUc.642G>C (p.Leu214=)
c.244G>C
c.237G>C (p.Leu79=)
c.-101G>C (n.-101G>C)
c.699G>C (p.Leu233=)
17g.42538449G=CA2260527848NAGLUc.642G= (p.Leu214=)
c.244G=
c.237G= (p.Leu79=)
c.-101G= (n.-101G=)
c.699G= (p.Leu233=)
17g.42538449G>TCA500216438NAGLUc.642G>T (p.Leu214=)
c.244G>T
c.237G>T (p.Leu79=)
c.-101G>T (n.-101G>T)
c.699G>T (p.Leu233=)
17g.42538449dupCA2260527850NAGLUc.642dup (p.Pro215AlafsTer?)
c.244dup
c.237dup (p.Pro80AlafsTer?)
c.-101dup (n.-101dup)
c.699dup (p.Pro234AlafsTer?)
 ClinVar dbSNP gnomAD v4
17g.42538449_42538450delinsGCCA2260527849NAGLUc.642_643delinsGC (p.Leu214=)
c.244_245delinsGC
c.237_238delinsGC (p.Leu79=)
c.-101_-100delinsGC (n.-101_-100delinsGC)
c.699_700delinsGC (p.Leu233=)
17g.42538450C>ACA399598664NAGLUc.643C>A (p.Pro215Thr)
c.245C>A
c.238C>A (p.Pro80Thr)
c.-100C>A (n.-100C>A)
c.700C>A (p.Pro234Thr)
17g.42538450C=CA2260527851NAGLUc.643C= (p.Pro215=)
c.245C=
c.238C= (p.Pro80=)
c.-100C= (n.-100C=)
c.700C= (p.Pro234=)
17g.42538450C>GCA399598666NAGLUc.643C>G (p.Pro215Ala)
c.245C>G
c.238C>G (p.Pro80Ala)
c.-100C>G (n.-100C>G)
c.700C>G (p.Pro234Ala)
17g.42538450C>TCA399598668NAGLUc.643C>T (p.Pro215Ser)
c.245C>T
c.238C>T (p.Pro80Ser)
c.-100C>T (n.-100C>T)
c.700C>T (p.Pro234Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42538455dupCA8576804NAGLUc.648dup (p.Ser217LeufsTer?)
c.250dup
c.243dup (p.Ser82LeufsTer?)
c.-95dup (n.-95dup)
c.705dup (p.Ser236LeufsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42538455delCA8576806NAGLUc.648del (p.Ser217ProfsTer22)
c.250del
c.243del (p.Ser82ProfsTer22)
c.-95del (n.-95del)
c.705del (p.Ser236ProfsTer22)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.42538451C>ACA399598670NAGLUc.644C>A (p.Pro215His)
c.246C>A
c.239C>A (p.Pro80His)
c.-99C>A (n.-99C>A)
c.701C>A (p.Pro234His)
17g.42538451C>GCA399598672NAGLUc.644C>G (p.Pro215Arg)
c.246C>G
c.239C>G (p.Pro80Arg)
c.-99C>G (n.-99C>G)
c.701C>G (p.Pro234Arg)
 gnomAD v4
17g.42538451C>TCA399598674NAGLUc.644C>T (p.Pro215Leu)
c.246C>T
c.239C>T (p.Pro80Leu)
c.-99C>T (n.-99C>T)
c.701C>T (p.Pro234Leu)
 gnomAD v4
17g.42538452C>ACA500216443NAGLUc.645C>A (p.Pro215=)
c.247C>A
c.240C>A (p.Pro80=)
c.-98C>A (n.-98C>A)
c.702C>A (p.Pro234=)
17g.42538452C=CA2260527852NAGLUc.645C= (p.Pro215=)
c.247C=
c.240C= (p.Pro80=)
c.-98C= (n.-98C=)
c.702C= (p.Pro234=)
17g.42538452C>GCA500216444NAGLUc.645C>G (p.Pro215=)
c.247C>G
c.240C>G (p.Pro80=)
c.-98C>G (n.-98C>G)
c.702C>G (p.Pro234=)
17g.42538452C>TCA500216445NAGLUc.645C>T (p.Pro215=)
c.247C>T
c.240C>T (p.Pro80=)
c.-98C>T (n.-98C>T)
c.702C>T (p.Pro234=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42538453C>ACA399598676NAGLUc.646C>A (p.Pro216Thr)
c.248C>A
c.241C>A (p.Pro81Thr)
c.-97C>A (n.-97C>A)
c.703C>A (p.Pro235Thr)
17g.42538453C=CA2260527853NAGLUc.646C= (p.Pro216=)
c.248C=
c.241C= (p.Pro81=)
c.-97C= (n.-97C=)
c.703C= (p.Pro235=)
17g.42538453C>GCA399598679NAGLUc.646C>G (p.Pro216Ala)
c.248C>G
c.241C>G (p.Pro81Ala)
c.-97C>G (n.-97C>G)
c.703C>G (p.Pro235Ala)
 gnomAD v4
17g.42538453C>TCA8576807NAGLUc.646C>T (p.Pro216Ser)
c.248C>T
c.241C>T (p.Pro81Ser)
c.-97C>T (n.-97C>T)
c.703C>T (p.Pro235Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42538454C>ACA399598681NAGLUc.647C>A (p.Pro216His)
c.249C>A
c.242C>A (p.Pro81His)
c.-96C>A (n.-96C>A)
c.704C>A (p.Pro235His)
 ClinVar dbSNP gnomAD v4
17g.42538454C=CA2260527854NAGLUc.647C= (p.Pro216=)
c.249C=
c.242C= (p.Pro81=)
c.-96C= (n.-96C=)
c.704C= (p.Pro235=)
17g.42538454C>GCA8576808NAGLUc.647C>G (p.Pro216Arg)
c.249C>G
c.242C>G (p.Pro81Arg)
c.-96C>G (n.-96C>G)
c.704C>G (p.Pro235Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42538454C>TCA399598684NAGLUc.647C>T (p.Pro216Leu)
c.249C>T
c.242C>T (p.Pro81Leu)
c.-96C>T (n.-96C>T)
c.704C>T (p.Pro235Leu)
 dbSNP gnomAD v4 COSMIC
17g.42538455C>ACA500216448NAGLUc.648C>A (p.Pro216=)
c.250C>A
c.243C>A (p.Pro81=)
c.-95C>A (n.-95C>A)
c.705C>A (p.Pro235=)
 ClinVar
17g.42538455C=CA2260527855NAGLUc.648C= (p.Pro216=)
c.250C=
c.243C= (p.Pro81=)
c.-95C= (n.-95C=)
c.705C= (p.Pro235=)
17g.42538455C>GCA8576809NAGLUc.648C>G (p.Pro216=)
c.250C>G
c.243C>G (p.Pro81=)
c.-95C>G (n.-95C>G)
c.705C>G (p.Pro235=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42538455C>TCA500216449NAGLUc.648C>T (p.Pro216=)
c.250C>T
c.243C>T (p.Pro81=)
c.-95C>T (n.-95C>T)
c.705C>T (p.Pro235=)
 gnomAD v4
17g.42538456T>ACA399598686NAGLUc.649T>A (p.Ser217Thr)
c.251T>A
c.244T>A (p.Ser82Thr)
c.-94T>A (n.-94T>A)
c.706T>A (p.Ser236Thr)
17g.42538456T>CCA399598687NAGLUc.649T>C (p.Ser217Pro)
c.251T>C
c.244T>C (p.Ser82Pro)
c.-94T>C (n.-94T>C)
c.706T>C (p.Ser236Pro)
17g.42538456T>GCA399598689NAGLUc.649T>G (p.Ser217Ala)
c.251T>G
c.244T>G (p.Ser82Ala)
c.-94T>G (n.-94T>G)
c.706T>G (p.Ser236Ala)
17g.42538457C>ACA399598691NAGLUc.650C>A (p.Ser217Tyr)
c.252C>A
c.245C>A (p.Ser82Tyr)
c.-93C>A (n.-93C>A)
c.707C>A (p.Ser236Tyr)
17g.42538457C>GCA399598693NAGLUc.650C>G (p.Ser217Cys)
c.252C>G
c.245C>G (p.Ser82Cys)
c.-93C>G (n.-93C>G)
c.707C>G (p.Ser236Cys)
17g.42538457C>TCA399598695NAGLUc.650C>T (p.Ser217Phe)
c.252C>T
c.245C>T (p.Ser82Phe)
c.-93C>T (n.-93C>T)
c.707C>T (p.Ser236Phe)
17g.42538458dupCA2695226061NAGLUc.651dup (p.Trp218LeufsTer?)
c.253dup
c.246dup (p.Trp83LeufsTer?)
c.-92dup (n.-92dup)
c.708dup (p.Trp237LeufsTer?)
17g.42538458C>ACA500216453NAGLUc.651C>A (p.Ser217=)
c.253C>A
c.246C>A (p.Ser82=)
c.-92C>A (n.-92C>A)
c.708C>A (p.Ser236=)
17g.42538458C>GCA500216451NAGLUc.651C>G (p.Ser217=)
c.253C>G
c.246C>G (p.Ser82=)
c.-92C>G (n.-92C>G)
c.708C>G (p.Ser236=)
17g.42538458C>TCA500216452NAGLUc.651C>T (p.Ser217=)
c.253C>T
c.246C>T (p.Ser82=)
c.-92C>T (n.-92C>T)
c.708C>T (p.Ser236=)
17g.42538459T>ACA399598701NAGLUc.652T>A (p.Trp218Arg)
c.254T>A
c.247T>A (p.Trp83Arg)
c.-91T>A (n.-91T>A)
c.709T>A (p.Trp237Arg)
17g.42538459T>CCA399598699NAGLUc.652T>C (p.Trp218Arg)
c.254T>C
c.247T>C (p.Trp83Arg)
c.-91T>C (n.-91T>C)
c.709T>C (p.Trp237Arg)
17g.42538459T>GCA399598697NAGLUc.652T>G (p.Trp218Gly)
c.254T>G
c.247T>G (p.Trp83Gly)
c.-91T>G (n.-91T>G)
c.709T>G (p.Trp237Gly)
17g.42538460G>ACA399598705NAGLUc.653G>A (p.Trp218Ter)
c.255G>A
c.248G>A (p.Trp83Ter)
c.-90G>A (n.-90G>A)
c.710G>A (p.Trp237Ter)
17g.42538460G>CCA399598703NAGLUc.653G>C (p.Trp218Ser)
c.255G>C
c.248G>C (p.Trp83Ser)
c.-90G>C (n.-90G>C)
c.710G>C (p.Trp237Ser)
17g.42538460G>TCA399598704NAGLUc.653G>T (p.Trp218Leu)
c.255G>T
c.248G>T (p.Trp83Leu)
c.-90G>T (n.-90G>T)
c.710G>T (p.Trp237Leu)
17g.42538461G>ACA399598707NAGLUc.654G>A (p.Trp218Ter)
c.256G>A
c.249G>A (p.Trp83Ter)
c.-89G>A (n.-89G>A)
c.711G>A (p.Trp237Ter)
 ClinVar dbSNP gnomAD v2
17g.42538461G>CCA399598709NAGLUc.654G>C (p.Trp218Cys)
c.256G>C
c.249G>C (p.Trp83Cys)
c.-89G>C (n.-89G>C)
c.711G>C (p.Trp237Cys)
17g.42538461G=CA2260527856NAGLUc.654G= (p.Trp218=)
c.256G=
c.249G= (p.Trp83=)
c.-89G= (n.-89G=)
c.711G= (p.Trp237=)
17g.42538461G>TCA399598711NAGLUc.654G>T (p.Trp218Cys)
c.256G>T
c.249G>T (p.Trp83Cys)
c.-89G>T (n.-89G>T)
c.711G>T (p.Trp237Cys)
17g.42538462C>ACA399598717NAGLUc.655C>A (p.His219Asn)
c.257C>A
c.250C>A (p.His84Asn)
c.-88C>A (n.-88C>A)
c.712C>A (p.His238Asn)
 COSMIC
17g.42538462C>GCA399598715NAGLUc.655C>G (p.His219Asp)
c.257C>G
c.250C>G (p.His84Asp)
c.-88C>G (n.-88C>G)
c.712C>G (p.His238Asp)
17g.42538462C>TCA399598713NAGLUc.655C>T (p.His219Tyr)
c.257C>T
c.250C>T (p.His84Tyr)
c.-88C>T (n.-88C>T)
c.712C>T (p.His238Tyr)
17g.42538463A>CCA399598719NAGLUc.656A>C (p.His219Pro)
c.258A>C
c.251A>C (p.His84Pro)
c.-87A>C (n.-87A>C)
c.713A>C (p.His238Pro)
17g.42538463A>GCA399598721NAGLUc.656A>G (p.His219Arg)
c.258A>G
c.251A>G (p.His84Arg)
c.-87A>G (n.-87A>G)
c.713A>G (p.His238Arg)
 gnomAD v4
17g.42538463A>TCA399598722NAGLUc.656A>T (p.His219Leu)
c.258A>T
c.251A>T (p.His84Leu)
c.-87A>T (n.-87A>T)
c.713A>T (p.His238Leu)
17g.42538464C>ACA399598725NAGLUc.657C>A (p.His219Gln)
c.259C>A
c.252C>A (p.His84Gln)
c.-86C>A (n.-86C>A)
c.714C>A (p.His238Gln)
17g.42538464C=CA2260527857NAGLUc.657C= (p.His219=)
c.259C=
c.252C= (p.His84=)
c.-86C= (n.-86C=)
c.714C= (p.His238=)
17g.42538464C>GCA399598727NAGLUc.657C>G (p.His219Gln)
c.259C>G
c.252C>G (p.His84Gln)
c.-86C>G (n.-86C>G)
c.714C>G (p.His238Gln)
17g.42538464C>TCA8576810NAGLUc.657C>T (p.His219=)
c.259C>T
c.252C>T (p.His84=)
c.-86C>T (n.-86C>T)
c.714C>T (p.His238=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42538465A>CCA399598730NAGLUc.658A>C (p.Ile220Leu)
c.260A>C
c.253A>C (p.Ile85Leu)
c.-85A>C (n.-85A>C)
c.715A>C (p.Ile239Leu)
17g.42538465A>GCA399598733NAGLUc.658A>G (p.Ile220Val)
c.260A>G
c.253A>G (p.Ile85Val)
c.-85A>G (n.-85A>G)
c.715A>G (p.Ile239Val)
17g.42538465A>TCA399598732NAGLUc.658A>T (p.Ile220Phe)
c.260A>T
c.253A>T (p.Ile85Phe)
c.-85A>T (n.-85A>T)
c.715A>T (p.Ile239Phe)
 gnomAD v4
17g.42538466T>ACA399598735NAGLUc.659T>A (p.Ile220Asn)
c.261T>A
c.254T>A (p.Ile85Asn)
c.-84T>A (n.-84T>A)
c.716T>A (p.Ile239Asn)
17g.42538466T>CCA399598736NAGLUc.659T>C (p.Ile220Thr)
c.261T>C
c.254T>C (p.Ile85Thr)
c.-84T>C (n.-84T>C)
c.716T>C (p.Ile239Thr)
17g.42538466T>GCA399598738NAGLUc.659T>G (p.Ile220Ser)
c.261T>G
c.254T>G (p.Ile85Ser)
c.-84T>G (n.-84T>G)
c.716T>G (p.Ile239Ser)
17g.42538467delCA2695226062NAGLUc.660del (p.Lys221SerfsTer18)
c.262del
c.255del (p.Lys86SerfsTer18)
c.-83del (n.-83del)
c.717del (p.Lys240SerfsTer18)
17g.42538467C>ACA500216459NAGLUc.660C>A (p.Ile220=)
c.262C>A
c.255C>A (p.Ile85=)
c.-83C>A (n.-83C>A)
c.717C>A (p.Ile239=)
 ClinVar gnomAD v4
17g.42538467C>GCA399598740NAGLUc.660C>G (p.Ile220Met)
c.262C>G
c.255C>G (p.Ile85Met)
c.-83C>G (n.-83C>G)
c.717C>G (p.Ile239Met)
 gnomAD v4 COSMIC
17g.42538467C>TCA500216460NAGLUc.660C>T (p.Ile220=)
c.262C>T
c.255C>T (p.Ile85=)
c.-83C>T (n.-83C>T)
c.717C>T (p.Ile239=)
 COSMIC
17g.42538468A=CA2260527858NAGLUc.661A= (p.Lys221=)
c.263A=
c.256A= (p.Lys86=)
c.-82A= (n.-82A=)
c.718A= (p.Lys240=)
17g.42538468A>CCA399598742NAGLUc.661A>C (p.Lys221Gln)
c.263A>C
c.256A>C (p.Lys86Gln)
c.-82A>C (n.-82A>C)
c.718A>C (p.Lys240Gln)
17g.42538468A>GCA290773231NAGLUc.661A>G (p.Lys221Glu)
c.263A>G
c.256A>G (p.Lys86Glu)
c.-82A>G (n.-82A>G)
c.718A>G (p.Lys240Glu)
 dbSNP gnomAD v4
17g.42538468A>TCA290773254NAGLUc.661A>T (p.Lys221Ter)
c.263A>T
c.256A>T (p.Lys86Ter)
c.-82A>T (n.-82A>T)
c.718A>T (p.Lys240Ter)
 dbSNP
17g.42538469A>CCA399598746NAGLUc.662A>C (p.Lys221Thr)
c.264A>C
c.257A>C (p.Lys86Thr)
c.-81A>C (n.-81A>C)
c.719A>C (p.Lys240Thr)
17g.42538469A>GCA399598748NAGLUc.662A>G (p.Lys221Arg)
c.264A>G
c.257A>G (p.Lys86Arg)
c.-81A>G (n.-81A>G)
c.719A>G (p.Lys240Arg)
17g.42538469A>TCA399598750NAGLUc.662A>T (p.Lys221Met)
c.264A>T
c.257A>T (p.Lys86Met)
c.-81A>T (n.-81A>T)
c.719A>T (p.Lys240Met)
17g.42538470G>ACA500216463NAGLUc.663G>A (p.Lys221=)
c.265G>A
c.258G>A (p.Lys86=)
c.-80G>A (n.-80G>A)
c.720G>A (p.Lys240=)
 ClinVar
17g.42538470G>CCA399598752NAGLUc.663G>C (p.Lys221Asn)
c.265G>C
c.258G>C (p.Lys86Asn)
c.-80G>C (n.-80G>C)
c.720G>C (p.Lys240Asn)
17g.42538470G>TCA399598754NAGLUc.663G>T (p.Lys221Asn)
c.265G>T
c.258G>T (p.Lys86Asn)
c.-80G>T (n.-80G>T)
c.720G>T (p.Lys240Asn)
17g.42538471C>ACA399598758NAGLUc.664C>A (p.Gln222Lys)
c.266C>A
c.259C>A (p.Gln87Lys)
c.-79C>A (n.-79C>A)
c.721C>A (p.Gln241Lys)
17g.42538471C=CA2260527859NAGLUc.664C= (p.Gln222=)
c.266C=
c.259C= (p.Gln87=)
c.-79C= (n.-79C=)
c.721C= (p.Gln241=)
17g.42538471C>GCA8576811NAGLUc.664C>G (p.Gln222Glu)
c.266C>G
c.259C>G (p.Gln87Glu)
c.-79C>G (n.-79C>G)
c.721C>G (p.Gln241Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42538471C>TCA399598756NAGLUc.664C>T (p.Gln222Ter)
c.266C>T
c.259C>T (p.Gln87Ter)
c.-79C>T (n.-79C>T)
c.721C>T (p.Gln241Ter)
 dbSNP gnomAD v2 gnomAD v4
17g.42538472A>CCA399598761NAGLUc.665A>C (p.Gln222Pro)
c.267A>C
c.260A>C (p.Gln87Pro)
c.-78A>C (n.-78A>C)
c.722A>C (p.Gln241Pro)
17g.42538472A>GCA399598764NAGLUc.665A>G (p.Gln222Arg)
c.267A>G
c.260A>G (p.Gln87Arg)
c.-78A>G (n.-78A>G)
c.722A>G (p.Gln241Arg)
17g.42538472A>TCA399598762NAGLUc.665A>T (p.Gln222Leu)
c.267A>T
c.260A>T (p.Gln87Leu)
c.-78A>T (n.-78A>T)
c.722A>T (p.Gln241Leu)
17g.42538473G>ACA500216467NAGLUc.666G>A (p.Gln222=)
c.268G>A
c.261G>A (p.Gln87=)
c.-77G>A (n.-77G>A)
c.723G>A (p.Gln241=)
17g.42538473G>CCA399598766NAGLUc.666G>C (p.Gln222His)
c.268G>C
c.261G>C (p.Gln87His)
c.-77G>C (n.-77G>C)
c.723G>C (p.Gln241His)
17g.42538473G>TCA399598768NAGLUc.666G>T (p.Gln222His)
c.268G>T
c.261G>T (p.Gln87His)
c.-77G>T (n.-77G>T)
c.723G>T (p.Gln241His)
17g.42538474C>ACA399598770NAGLUc.667C>A (p.Leu223Ile)
c.269C>A
c.262C>A (p.Leu88Ile)
c.-76C>A (n.-76C>A)
c.724C>A (p.Leu242Ile)
17g.42538474C>GCA399598772NAGLUc.667C>G (p.Leu223Val)
c.269C>G
c.262C>G (p.Leu88Val)
c.-76C>G (n.-76C>G)
c.724C>G (p.Leu242Val)
17g.42538474C>TCA399598774NAGLUc.667C>T (p.Leu223Phe)
c.269C>T
c.262C>T (p.Leu88Phe)
c.-76C>T (n.-76C>T)
c.724C>T (p.Leu242Phe)
17g.42538475T>ACA399598775NAGLUc.668T>A (p.Leu223His)
c.270T>A
c.263T>A (p.Leu88His)
c.-75T>A (n.-75T>A)
c.725T>A (p.Leu242His)
17g.42538475T>CCA399598776NAGLUc.668T>C (p.Leu223Pro)
c.270T>C
c.263T>C (p.Leu88Pro)
c.-75T>C (n.-75T>C)
c.725T>C (p.Leu242Pro)
17g.42538475T>GCA399598777NAGLUc.668T>G (p.Leu223Arg)
c.270T>G
c.263T>G (p.Leu88Arg)
c.-75T>G (n.-75T>G)
c.725T>G (p.Leu242Arg)
17g.42538476T>ACA500216469NAGLUc.669T>A (p.Leu223=)
c.271T>A
c.264T>A (p.Leu88=)
c.-74T>A (n.-74T>A)
c.726T>A (p.Leu242=)
17g.42538476T>CCA500216468NAGLUc.669T>C (p.Leu223=)
c.271T>C
c.264T>C (p.Leu88=)
c.-74T>C (n.-74T>C)
c.726T>C (p.Leu242=)
17g.42538476T>GCA500216470NAGLUc.669T>G (p.Leu223=)
c.271T>G
c.264T>G (p.Leu88=)
c.-74T>G (n.-74T>G)
c.726T>G (p.Leu242=)
17g.42538477T>ACA399598778NAGLUc.670T>A (p.Tyr224Asn)
c.272T>A
c.265T>A (p.Tyr89Asn)
c.-73T>A (n.-73T>A)
c.727T>A (p.Tyr243Asn)
17g.42538477T>CCA399598779NAGLUc.670T>C (p.Tyr224His)
c.272T>C
c.265T>C (p.Tyr89His)
c.-73T>C (n.-73T>C)
c.727T>C (p.Tyr243His)
17g.42538477T>GCA399598780NAGLUc.670T>G (p.Tyr224Asp)
c.272T>G
c.265T>G (p.Tyr89Asp)
c.-73T>G (n.-73T>G)
c.727T>G (p.Tyr243Asp)
17g.42538478A=CA2260527860NAGLUc.671A= (p.Tyr224=)
c.273A=
c.266A= (p.Tyr89=)
c.-72A= (n.-72A=)
c.728A= (p.Tyr243=)
17g.42538478A>CCA399598782NAGLUc.671A>C (p.Tyr224Ser)
c.273A>C
c.266A>C (p.Tyr89Ser)
c.-72A>C (n.-72A>C)
c.728A>C (p.Tyr243Ser)
17g.42538478A>GCA8576812NAGLUc.671A>G (p.Tyr224Cys)
c.273A>G
c.266A>G (p.Tyr89Cys)
c.-72A>G (n.-72A>G)
c.728A>G (p.Tyr243Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42538478A>TCA399598781NAGLUc.671A>T (p.Tyr224Phe)
c.273A>T
c.266A>T (p.Tyr89Phe)
c.-72A>T (n.-72A>T)
c.728A>T (p.Tyr243Phe)
17g.42538479C>ACA399598783NAGLUc.672C>A (p.Tyr224Ter)
c.274C>A
c.267C>A (p.Tyr89Ter)
c.-71C>A (n.-71C>A)
c.729C>A (p.Tyr243Ter)
17g.42538479C>GCA399598784NAGLUc.672C>G (p.Tyr224Ter)
c.274C>G
c.267C>G (p.Tyr89Ter)
c.-71C>G (n.-71C>G)
c.729C>G (p.Tyr243Ter)
17g.42538479C>TCA500216471NAGLUc.672C>T (p.Tyr224=)
c.274C>T
c.267C>T (p.Tyr89=)
c.-71C>T (n.-71C>T)
c.729C>T (p.Tyr243=)
 ClinVar
17g.42538480C>ACA399598785NAGLUc.673C>A (p.Leu225Met)
c.275C>A
c.268C>A (p.Leu90Met)
c.-70C>A (n.-70C>A)
c.730C>A (p.Leu244Met)
17g.42538480C=CA2260527861NAGLUc.673C= (p.Leu225=)
c.275C=
c.268C= (p.Leu90=)
c.-70C= (n.-70C=)
c.730C= (p.Leu244=)
17g.42538480C>GCA399598786NAGLUc.673C>G (p.Leu225Val)
c.275C>G
c.268C>G (p.Leu90Val)
c.-70C>G (n.-70C>G)
c.730C>G (p.Leu244Val)
17g.42538480C>TCA500216472NAGLUc.673C>T (p.Leu225=)
c.275C>T
c.268C>T (p.Leu90=)
c.-70C>T (n.-70C>T)
c.730C>T (p.Leu244=)
 dbSNP gnomAD v2 gnomAD v4
17g.42538481T>ACA399598787NAGLUc.674T>A (p.Leu225Gln)
c.276T>A
c.269T>A (p.Leu90Gln)
c.-69T>A (n.-69T>A)
c.731T>A (p.Leu244Gln)
17g.42538481T>CCA399598789NAGLUc.674T>C (p.Leu225Pro)
c.276T>C
c.269T>C (p.Leu90Pro)
c.-69T>C (n.-69T>C)
c.731T>C (p.Leu244Pro)
17g.42538481T>GCA399598790NAGLUc.674T>G (p.Leu225Arg)
c.276T>G
c.269T>G (p.Leu90Arg)
c.-69T>G (n.-69T>G)
c.731T>G (p.Leu244Arg)
17g.42538482G>ACA500216474NAGLUc.675G>A (p.Leu225=)
c.277G>A
c.270G>A (p.Leu90=)
c.-68G>A (n.-68G>A)
c.732G>A (p.Leu244=)
 dbSNP gnomAD v2 gnomAD v4
17g.42538482G>CCA500216473NAGLUc.675G>C (p.Leu225=)
c.277G>C
c.270G>C (p.Leu90=)
c.-68G>C (n.-68G>C)
c.732G>C (p.Leu244=)
17g.42538482G=CA2260527862NAGLUc.675G= (p.Leu225=)
c.277G=
c.270G= (p.Leu90=)
c.-68G= (n.-68G=)
c.732G= (p.Leu244=)
17g.42538482G>TCA8576813NAGLUc.675G>T (p.Leu225=)
c.277G>T
c.270G>T (p.Leu90=)
c.-68G>T (n.-68G>T)
c.732G>T (p.Leu244=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42538483C>ACA399598791NAGLUc.676C>A (p.Gln226Lys)
c.278C>A
c.271C>A (p.Gln91Lys)
c.-67C>A (n.-67C>A)
c.733C>A (p.Gln245Lys)
17g.42538483C>GCA399598792NAGLUc.676C>G (p.Gln226Glu)
c.278C>G
c.271C>G (p.Gln91Glu)
c.-67C>G (n.-67C>G)
c.733C>G (p.Gln245Glu)
17g.42538483C>TCA399598793NAGLUc.676C>T (p.Gln226Ter)
c.278C>T
c.271C>T (p.Gln91Ter)
c.-67C>T (n.-67C>T)
c.733C>T (p.Gln245Ter)
 ClinVar
17g.42538484A>CCA399598796NAGLUc.677A>C (p.Gln226Pro)
c.279A>C
c.272A>C (p.Gln91Pro)
c.-66A>C (n.-66A>C)
c.734A>C (p.Gln245Pro)
17g.42538484A>GCA399598795NAGLUc.677A>G (p.Gln226Arg)
c.279A>G
c.272A>G (p.Gln91Arg)
c.-66A>G (n.-66A>G)
c.734A>G (p.Gln245Arg)
17g.42538484A>TCA399598794NAGLUc.677A>T (p.Gln226Leu)
c.279A>T
c.272A>T (p.Gln91Leu)
c.-66A>T (n.-66A>T)
c.734A>T (p.Gln245Leu)
17g.42538485G>ACA500216475NAGLUc.678G>A (p.Gln226=)
c.280G>A
c.273G>A (p.Gln91=)
c.-65G>A (n.-65G>A)
c.735G>A (p.Gln245=)
17g.42538485G>CCA399598797NAGLUc.678G>C (p.Gln226His)
c.280G>C
c.273G>C (p.Gln91His)
c.-65G>C (n.-65G>C)
c.735G>C (p.Gln245His)
17g.42538485G>TCA399598798NAGLUc.678G>T (p.Gln226His)
c.280G>T
c.273G>T (p.Gln91His)
c.-65G>T (n.-65G>T)
c.735G>T (p.Gln245His)
17g.42538486G>ACA399598799NAGLUc.678+1G>A (n.678+1G>A)
c.280+1G>A
c.273+1G>A (n.273+1G>A)
c.-65+1G>A (n.-65+1G>A)
c.735+1G>A (n.735+1G>A)
 ClinVar dbSNP
17g.42538486G>CCA399598800NAGLUc.678+1G>C (n.678+1G>C)
c.280+1G>C
c.273+1G>C (n.273+1G>C)
c.-65+1G>C (n.-65+1G>C)
c.735+1G>C (n.735+1G>C)
17g.42538486G>TCA399598801NAGLUc.678+1G>T (n.678+1G>T)
c.280+1G>T
c.273+1G>T (n.273+1G>T)
c.-65+1G>T (n.-65+1G>T)
c.735+1G>T (n.735+1G>T)
17g.42538487T>ACA399598802NAGLUc.678+2T>A (n.678+2T>A)
c.280+2T>A
c.273+2T>A (n.273+2T>A)
c.-65+2T>A (n.-65+2T>A)
c.735+2T>A (n.735+2T>A)
17g.42538487T>CCA399598803NAGLUc.678+2T>C (n.678+2T>C)
c.280+2T>C
c.273+2T>C (n.273+2T>C)
c.-65+2T>C (n.-65+2T>C)
c.735+2T>C (n.735+2T>C)
17g.42538487T>GCA399598804NAGLUc.678+2T>G (n.678+2T>G)
c.280+2T>G
c.273+2T>G (n.273+2T>G)
c.-65+2T>G (n.-65+2T>G)
c.735+2T>G (n.735+2T>G)
17g.42538487_42538488delinsTACA2260527863NAGLUc.678+2_678+3delinsTA (n.678+2_678+3delinsTA)
c.280+2_280+3delinsTA
c.273+2_273+3delinsTA (n.273+2_273+3delinsTA)
c.-65+2_-65+3delinsTA (n.-65+2_-65+3delinsTA)
c.735+2_735+3delinsTA (n.735+2_735+3delinsTA)
17g.42538488A=CA2260527864NAGLUc.678+3A= (n.678+3A=)
c.280+3A=
c.273+3A= (n.273+3A=)
c.-65+3A= (n.-65+3A=)
c.735+3A= (n.735+3A=)
17g.42538488A>GCA2260527866NAGLUc.678+3A>G (n.678+3A>G)
c.280+3A>G
c.273+3A>G (n.273+3A>G)
c.-65+3A>G (n.-65+3A>G)
c.735+3A>G (n.735+3A>G)
 dbSNP gnomAD v4
17g.42538491delCA2260527865NAGLUc.678+6del (n.678+6del)
c.280+6del
c.273+6del (n.273+6del)
c.-65+6del (n.-65+6del)
c.735+6del (n.735+6del)
 dbSNP
17g.42538489A=CA2260527867NAGLUc.678+4A= (n.678+4A=)
c.280+4A=
c.273+4A= (n.273+4A=)
c.-65+4A= (n.-65+4A=)
c.735+4A= (n.735+4A=)
17g.42538489A>GCA8576814NAGLUc.678+4A>G (n.678+4A>G)
c.280+4A>G
c.273+4A>G (n.273+4A>G)
c.-65+4A>G (n.-65+4A>G)
c.735+4A>G (n.735+4A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42538490A>GCA2637969861NAGLUc.678+5A>G (n.678+5A>G)
c.280+5A>G
c.273+5A>G (n.273+5A>G)
c.-65+5A>G (n.-65+5A>G)
c.735+5A>G (n.735+5A>G)
 gnomAD v4
17g.42538492G>CCA2637969862NAGLUc.678+7G>C (n.678+7G>C)
c.280+7G>C
c.273+7G>C (n.273+7G>C)
c.-65+7G>C (n.-65+7G>C)
c.735+7G>C (n.735+7G>C)
 ClinVar gnomAD v4
17g.42538493delCA2580093980NAGLUc.678+8del (n.678+8del)
c.280+8del
c.273+8del (n.273+8del)
c.-65+8del (n.-65+8del)
c.735+8del (n.735+8del)
 ClinVar gnomAD v4
17g.42538493G>ACA2573153966NAGLUc.678+8G>A (n.678+8G>A)
c.280+8G>A
c.273+8G>A (n.273+8G>A)
c.-65+8G>A (n.-65+8G>A)
c.735+8G>A (n.735+8G>A)
 ClinVar dbSNP

Number of alleles fetched