Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.42543303_42543313delCA2695225862NAGLUc.1297_1307del (p.Phe433HisfsTer24)
c.635_645del (n.635_645del)
c.336_346del
c.466_476del (p.Phe156HisfsTer24)
c.298_308del (p.Phe100HisfsTer24)
c.1354_1364del (p.Phe452HisfsTer24)
17g.42543313C>ACA399601818NAGLUc.1307C>A (p.Ser436Tyr)
c.645C>A (n.645C>A)
c.346C>A
c.476C>A (p.Ser159Tyr)
c.308C>A (p.Ser103Tyr)
c.1364C>A (p.Ser455Tyr)
17g.42543313C>GCA399601820NAGLUc.1307C>G (p.Ser436Cys)
c.645C>G (n.645C>G)
c.346C>G
c.476C>G (p.Ser159Cys)
c.308C>G (p.Ser103Cys)
c.1364C>G (p.Ser455Cys)
17g.42543313C>TCA399601816NAGLUc.1307C>T (p.Ser436Phe)
c.645C>T (n.645C>T)
c.346C>T
c.476C>T (p.Ser159Phe)
c.308C>T (p.Ser103Phe)
c.1364C>T (p.Ser455Phe)
17g.42543314C>ACA500216872NAGLUc.1308C>A (p.Ser436=)
c.646C>A (n.646C>A)
c.347C>A
c.477C>A (p.Ser159=)
c.309C>A (p.Ser103=)
c.1365C>A (p.Ser455=)
17g.42543314C=CA2260530207NAGLUc.1308C= (p.Ser436=)
c.646C= (n.646C=)
c.347C=
c.477C= (p.Ser159=)
c.309C= (p.Ser103=)
c.1365C= (p.Ser455=)
17g.42543314C>GCA500216873NAGLUc.1308C>G (p.Ser436=)
c.646C>G (n.646C>G)
c.347C>G
c.477C>G (p.Ser159=)
c.309C>G (p.Ser103=)
c.1365C>G (p.Ser455=)
17g.42543314C>TCA8576994NAGLUc.1308C>T (p.Ser436=)
c.646C>T (n.646C>T)
c.347C>T
c.477C>T (p.Ser159=)
c.309C>T (p.Ser103=)
c.1365C>T (p.Ser455=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543315A>CCA399601823NAGLUc.1309A>C (p.Thr437Pro)
c.647A>C (n.647A>C)
c.348A>C
c.478A>C (p.Thr160Pro)
c.310A>C (p.Thr104Pro)
c.1366A>C (p.Thr456Pro)
17g.42543315A>GCA399601826NAGLUc.1309A>G (p.Thr437Ala)
c.647A>G (n.647A>G)
c.348A>G
c.478A>G (p.Thr160Ala)
c.310A>G (p.Thr104Ala)
c.1366A>G (p.Thr456Ala)
17g.42543315A>TCA399601825NAGLUc.1309A>T (p.Thr437Ser)
c.647A>T (n.647A>T)
c.348A>T
c.478A>T (p.Thr160Ser)
c.310A>T (p.Thr104Ser)
c.1366A>T (p.Thr456Ser)
17g.42543316C>ACA399601829NAGLUc.1310C>A (p.Thr437Asn)
c.648C>A (n.648C>A)
c.349C>A
c.479C>A (p.Thr160Asn)
c.311C>A (p.Thr104Asn)
c.1367C>A (p.Thr456Asn)
17g.42543316C=CA2260530208NAGLUc.1310C= (p.Thr437=)
c.648C= (n.648C=)
c.349C=
c.479C= (p.Thr160=)
c.311C= (p.Thr104=)
c.1367C= (p.Thr456=)
17g.42543316C>GCA8576995NAGLUc.1310C>G (p.Thr437Ser)
c.648C>G (n.648C>G)
c.349C>G
c.479C>G (p.Thr160Ser)
c.311C>G (p.Thr104Ser)
c.1367C>G (p.Thr456Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543316C>TCA399601832NAGLUc.1310C>T (p.Thr437Ile)
c.648C>T (n.648C>T)
c.349C>T
c.479C>T (p.Thr160Ile)
c.311C>T (p.Thr104Ile)
c.1367C>T (p.Thr456Ile)
 gnomAD v4
17g.42543317C>ACA500216875NAGLUc.1311C>A (p.Thr437=)
c.649C>A (n.649C>A)
c.350C>A
c.480C>A (p.Thr160=)
c.312C>A (p.Thr104=)
c.1368C>A (p.Thr456=)
17g.42543317C=CA2260530209NAGLUc.1311C= (p.Thr437=)
c.649C= (n.649C=)
c.350C=
c.480C= (p.Thr160=)
c.312C= (p.Thr104=)
c.1368C= (p.Thr456=)
17g.42543317C>GCA500216874NAGLUc.1311C>G (p.Thr437=)
c.649C>G (n.649C>G)
c.350C>G
c.480C>G (p.Thr160=)
c.312C>G (p.Thr104=)
c.1368C>G (p.Thr456=)
 ClinVar dbSNP
17g.42543317C>TCA500216876NAGLUc.1311C>T (p.Thr437=)
c.649C>T (n.649C>T)
c.350C>T
c.480C>T (p.Thr160=)
c.312C>T (p.Thr104=)
c.1368C>T (p.Thr456=)
 ClinVar dbSNP gnomAD v4
17g.42543318A=CA2260530210NAGLUc.1312A= (p.Met438=)
c.650A= (n.650A=)
c.351A=
c.481A= (p.Met161=)
c.313A= (p.Met105=)
c.1369A= (p.Met457=)
17g.42543318A>CCA399601834NAGLUc.1312A>C (p.Met438Leu)
c.650A>C (n.650A>C)
c.351A>C
c.481A>C (p.Met161Leu)
c.313A>C (p.Met105Leu)
c.1369A>C (p.Met457Leu)
17g.42543318A>GCA399601835NAGLUc.1312A>G (p.Met438Val)
c.650A>G (n.650A>G)
c.351A>G
c.481A>G (p.Met161Val)
c.313A>G (p.Met105Val)
c.1369A>G (p.Met457Val)
 dbSNP gnomAD v4
17g.42543318A>TCA399601837NAGLUc.1312A>T (p.Met438Leu)
c.650A>T (n.650A>T)
c.351A>T
c.481A>T (p.Met161Leu)
c.313A>T (p.Met105Leu)
c.1369A>T (p.Met457Leu)
17g.42543319T>ACA399601839NAGLUc.1313T>A (p.Met438Lys)
c.651T>A (n.651T>A)
c.352T>A
c.482T>A (p.Met161Lys)
c.314T>A (p.Met105Lys)
c.1370T>A (p.Met457Lys)
17g.42543319T>CCA399601841NAGLUc.1313T>C (p.Met438Thr)
c.651T>C (n.651T>C)
c.352T>C
c.482T>C (p.Met161Thr)
c.314T>C (p.Met105Thr)
c.1370T>C (p.Met457Thr)
17g.42543319T>GCA399601843NAGLUc.1313T>G (p.Met438Arg)
c.651T>G (n.651T>G)
c.352T>G
c.482T>G (p.Met161Arg)
c.314T>G (p.Met105Arg)
c.1370T>G (p.Met457Arg)
 ClinVar dbSNP
17g.42543319T=CA2260530211NAGLUc.1313T= (p.Met438=)
c.651T= (n.651T=)
c.352T=
c.482T= (p.Met161=)
c.314T= (p.Met105=)
c.1370T= (p.Met457=)
17g.42543320G>ACA399601845NAGLUc.1314G>A (p.Met438Ile)
c.652G>A (n.652G>A)
c.353G>A
c.483G>A (p.Met161Ile)
c.315G>A (p.Met105Ile)
c.1371G>A (p.Met457Ile)
 dbSNP gnomAD v2 gnomAD v4
17g.42543320G>CCA290780327NAGLUc.1314G>C (p.Met438Ile)
c.652G>C (n.652G>C)
c.353G>C
c.483G>C (p.Met161Ile)
c.315G>C (p.Met105Ile)
c.1371G>C (p.Met457Ile)
 ClinVar dbSNP gnomAD v4
17g.42543320G=CA2260530212NAGLUc.1314G= (p.Met438=)
c.652G= (n.652G=)
c.353G=
c.483G= (p.Met161=)
c.315G= (p.Met105=)
c.1371G= (p.Met457=)
17g.42543320G>TCA399601847NAGLUc.1314G>T (p.Met438Ile)
c.652G>T (n.652G>T)
c.353G>T
c.483G>T (p.Met161Ile)
c.315G>T (p.Met105Ile)
c.1371G>T (p.Met457Ile)
17g.42543321G>ACA399601849NAGLUc.1315G>A (p.Val439Ile)
c.653G>A (n.653G>A)
c.354G>A
c.484G>A (p.Val162Ile)
c.316G>A (p.Val106Ile)
c.1372G>A (p.Val458Ile)
 gnomAD v4
17g.42543321G>CCA399601852NAGLUc.1315G>C (p.Val439Leu)
c.653G>C (n.653G>C)
c.354G>C
c.484G>C (p.Val162Leu)
c.316G>C (p.Val106Leu)
c.1372G>C (p.Val458Leu)
17g.42543321G>TCA399601851NAGLUc.1315G>T (p.Val439Leu)
c.653G>T (n.653G>T)
c.354G>T
c.484G>T (p.Val162Leu)
c.316G>T (p.Val106Leu)
c.1372G>T (p.Val458Leu)
17g.42543322T>ACA399601854NAGLUc.1316T>A (p.Val439Glu)
c.654T>A (n.654T>A)
c.355T>A
c.485T>A (p.Val162Glu)
c.317T>A (p.Val106Glu)
c.1373T>A (p.Val458Glu)
17g.42543322T>CCA399601856NAGLUc.1316T>C (p.Val439Ala)
c.654T>C (n.654T>C)
c.355T>C
c.485T>C (p.Val162Ala)
c.317T>C (p.Val106Ala)
c.1373T>C (p.Val458Ala)
17g.42543322T>GCA399601858NAGLUc.1316T>G (p.Val439Gly)
c.654T>G (n.654T>G)
c.355T>G
c.485T>G (p.Val162Gly)
c.317T>G (p.Val106Gly)
c.1373T>G (p.Val458Gly)
17g.42543323delCA2695225863NAGLUc.1317del (p.Gly440AlafsTer?)
c.655del (n.655del)
c.356del
c.486del (p.Gly163AlafsTer?)
c.318del (p.Gly107AlafsTer?)
c.1374del (p.Gly459AlafsTer?)
17g.42543323A>CCA500216878NAGLUc.1317A>C (p.Val439=)
c.655A>C (n.655A>C)
c.356A>C
c.486A>C (p.Val162=)
c.318A>C (p.Val106=)
c.1374A>C (p.Val458=)
17g.42543323A>GCA500216879NAGLUc.1317A>G (p.Val439=)
c.655A>G (n.655A>G)
c.356A>G
c.486A>G (p.Val162=)
c.318A>G (p.Val106=)
c.1374A>G (p.Val458=)
17g.42543323A>TCA500216877NAGLUc.1317A>T (p.Val439=)
c.655A>T (n.655A>T)
c.356A>T
c.486A>T (p.Val162=)
c.318A>T (p.Val106=)
c.1374A>T (p.Val458=)
17g.42543324G>ACA399601860NAGLUc.1318G>A (p.Gly440Ser)
c.656G>A (n.656G>A)
c.357G>A
c.487G>A (p.Gly163Ser)
c.319G>A (p.Gly107Ser)
c.1375G>A (p.Gly459Ser)
17g.42543324G>CCA399601862NAGLUc.1318G>C (p.Gly440Arg)
c.656G>C (n.656G>C)
c.357G>C
c.487G>C (p.Gly163Arg)
c.319G>C (p.Gly107Arg)
c.1375G>C (p.Gly459Arg)
 ClinVar dbSNP
17g.42543324G>TCA399601864NAGLUc.1318G>T (p.Gly440Cys)
c.656G>T (n.656G>T)
c.357G>T
c.487G>T (p.Gly163Cys)
c.319G>T (p.Gly107Cys)
c.1375G>T (p.Gly459Cys)
17g.42543325G>ACA399601865NAGLUc.1319G>A (p.Gly440Asp)
c.657G>A (n.657G>A)
c.358G>A
c.488G>A (p.Gly163Asp)
c.320G>A (p.Gly107Asp)
c.1376G>A (p.Gly459Asp)
17g.42543325G>CCA399601866NAGLUc.1319G>C (p.Gly440Ala)
c.657G>C (n.657G>C)
c.358G>C
c.488G>C (p.Gly163Ala)
c.320G>C (p.Gly107Ala)
c.1376G>C (p.Gly459Ala)
17g.42543325G>TCA399601868NAGLUc.1319G>T (p.Gly440Val)
c.657G>T (n.657G>T)
c.358G>T
c.488G>T (p.Gly163Val)
c.320G>T (p.Gly107Val)
c.1376G>T (p.Gly459Val)
17g.42543326C>ACA500216882NAGLUc.1320C>A (p.Gly440=)
c.658C>A (n.658C>A)
c.359C>A
c.489C>A (p.Gly163=)
c.321C>A (p.Gly107=)
c.1377C>A (p.Gly459=)
 gnomAD v4
17g.42543326C>GCA500216881NAGLUc.1320C>G (p.Gly440=)
c.658C>G (n.658C>G)
c.359C>G
c.489C>G (p.Gly163=)
c.321C>G (p.Gly107=)
c.1377C>G (p.Gly459=)
17g.42543326C>TCA500216880NAGLUc.1320C>T (p.Gly440=)
c.658C>T (n.658C>T)
c.359C>T
c.489C>T (p.Gly163=)
c.321C>T (p.Gly107=)
c.1377C>T (p.Gly459=)
 COSMIC
17g.42543327A>CCA399601871NAGLUc.1321A>C (p.Thr441Pro)
c.659A>C (n.659A>C)
c.360A>C
c.490A>C (p.Thr164Pro)
c.322A>C (p.Thr108Pro)
c.1378A>C (p.Thr460Pro)
17g.42543327A>GCA399601873NAGLUc.1321A>G (p.Thr441Ala)
c.659A>G (n.659A>G)
c.360A>G
c.490A>G (p.Thr164Ala)
c.322A>G (p.Thr108Ala)
c.1378A>G (p.Thr460Ala)
17g.42543327A>TCA399601869NAGLUc.1321A>T (p.Thr441Ser)
c.659A>T (n.659A>T)
c.360A>T
c.490A>T (p.Thr164Ser)
c.322A>T (p.Thr108Ser)
c.1378A>T (p.Thr460Ser)
17g.42543328C>ACA399601875NAGLUc.1322C>A (p.Thr441Lys)
c.660C>A (n.660C>A)
c.361C>A
c.491C>A (p.Thr164Lys)
c.323C>A (p.Thr108Lys)
c.1379C>A (p.Thr460Lys)
17g.42543328C=CA2260530213NAGLUc.1322C= (p.Thr441=)
c.660C= (n.660C=)
c.361C=
c.491C= (p.Thr164=)
c.323C= (p.Thr108=)
c.1379C= (p.Thr460=)
17g.42543328C>GCA10603767NAGLUc.1322C>G (p.Thr441Arg)
c.660C>G (n.660C>G)
c.361C>G
c.491C>G (p.Thr164Arg)
c.323C>G (p.Thr108Arg)
c.1379C>G (p.Thr460Arg)
 ClinVar dbSNP gnomAD v4
17g.42543328C>TCA234308NAGLUc.1322C>T (p.Thr441Met)
c.660C>T (n.660C>T)
c.361C>T
c.491C>T (p.Thr164Met)
c.323C>T (p.Thr108Met)
c.1379C>T (p.Thr460Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543329G>ACA8576996NAGLUc.1323G>A (p.Thr441=)
c.661G>A (n.661G>A)
c.362G>A
c.492G>A (p.Thr164=)
c.324G>A (p.Thr108=)
c.1380G>A (p.Thr460=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.42543329G>CCA500216883NAGLUc.1323G>C (p.Thr441=)
c.661G>C (n.661G>C)
c.362G>C
c.492G>C (p.Thr164=)
c.324G>C (p.Thr108=)
c.1380G>C (p.Thr460=)
17g.42543329G=CA2260530214NAGLUc.1323G= (p.Thr441=)
c.661G= (n.661G=)
c.362G=
c.492G= (p.Thr164=)
c.324G= (p.Thr108=)
c.1380G= (p.Thr460=)
17g.42543329G>TCA500216884NAGLUc.1323G>T (p.Thr441=)
c.661G>T (n.661G>T)
c.362G>T
c.492G>T (p.Thr164=)
c.324G>T (p.Thr108=)
c.1380G>T (p.Thr460=)
17g.42543330G>ACA399601879NAGLUc.1324G>A (p.Gly442Ser)
c.662G>A (n.662G>A)
c.363G>A
c.493G>A (p.Gly165Ser)
c.325G>A (p.Gly109Ser)
c.1381G>A (p.Gly461Ser)
17g.42543330G>CCA399601881NAGLUc.1324G>C (p.Gly442Arg)
c.662G>C (n.662G>C)
c.363G>C
c.493G>C (p.Gly165Arg)
c.325G>C (p.Gly109Arg)
c.1381G>C (p.Gly461Arg)
17g.42543330G>TCA399601883NAGLUc.1324G>T (p.Gly442Cys)
c.662G>T (n.662G>T)
c.363G>T
c.493G>T (p.Gly165Cys)
c.325G>T (p.Gly109Cys)
c.1381G>T (p.Gly461Cys)
17g.42543331G>ACA399601885NAGLUc.1325G>A (p.Gly442Asp)
c.663G>A (n.663G>A)
c.364G>A
c.494G>A (p.Gly165Asp)
c.326G>A (p.Gly109Asp)
c.1382G>A (p.Gly461Asp)
 dbSNP gnomAD v2
17g.42543331G>CCA399601889NAGLUc.1325G>C (p.Gly442Ala)
c.663G>C (n.663G>C)
c.364G>C
c.494G>C (p.Gly165Ala)
c.326G>C (p.Gly109Ala)
c.1382G>C (p.Gly461Ala)
17g.42543331G=CA2260530215NAGLUc.1325G= (p.Gly442=)
c.663G= (n.663G=)
c.364G=
c.494G= (p.Gly165=)
c.326G= (p.Gly109=)
c.1382G= (p.Gly461=)
17g.42543331G>TCA399601887NAGLUc.1325G>T (p.Gly442Val)
c.663G>T (n.663G>T)
c.364G>T
c.494G>T (p.Gly165Val)
c.326G>T (p.Gly109Val)
c.1382G>T (p.Gly461Val)
17g.42543332C>ACA8576997NAGLUc.1326C>A (p.Gly442=)
c.664C>A (n.664C>A)
c.365C>A
c.495C>A (p.Gly165=)
c.327C>A (p.Gly109=)
c.1383C>A (p.Gly461=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42543332C=CA2260530216NAGLUc.1326C= (p.Gly442=)
c.664C= (n.664C=)
c.365C=
c.495C= (p.Gly165=)
c.327C= (p.Gly109=)
c.1383C= (p.Gly461=)
17g.42543332C>GCA500216885NAGLUc.1326C>G (p.Gly442=)
c.664C>G (n.664C>G)
c.365C>G
c.495C>G (p.Gly165=)
c.327C>G (p.Gly109=)
c.1383C>G (p.Gly461=)
17g.42543332C>TCA500216886NAGLUc.1326C>T (p.Gly442=)
c.664C>T (n.664C>T)
c.365C>T
c.495C>T (p.Gly165=)
c.327C>T (p.Gly109=)
c.1383C>T (p.Gly461=)
17g.42543333A=CA2260530217NAGLUc.1327A= (p.Met443=)
c.665A= (n.665A=)
c.366A=
c.496A= (p.Met166=)
c.328A= (p.Met110=)
c.1384A= (p.Met462=)
17g.42543333A>CCA399601892NAGLUc.1327A>C (p.Met443Leu)
c.665A>C (n.665A>C)
c.366A>C
c.496A>C (p.Met166Leu)
c.328A>C (p.Met110Leu)
c.1384A>C (p.Met462Leu)
17g.42543333A>GCA399601893NAGLUc.1327A>G (p.Met443Val)
c.665A>G (n.665A>G)
c.366A>G
c.496A>G (p.Met166Val)
c.328A>G (p.Met110Val)
c.1384A>G (p.Met462Val)
17g.42543333A>TCA399601894NAGLUc.1327A>T (p.Met443Leu)
c.665A>T (n.665A>T)
c.366A>T
c.496A>T (p.Met166Leu)
c.328A>T (p.Met110Leu)
c.1384A>T (p.Met462Leu)
 dbSNP gnomAD v4
17g.42543334T>ACA399601898NAGLUc.1328T>A (p.Met443Lys)
c.666T>A (n.666T>A)
c.367T>A
c.497T>A (p.Met166Lys)
c.329T>A (p.Met110Lys)
c.1385T>A (p.Met462Lys)
17g.42543334T>CCA399601901NAGLUc.1328T>C (p.Met443Thr)
c.666T>C (n.666T>C)
c.367T>C
c.497T>C (p.Met166Thr)
c.329T>C (p.Met110Thr)
c.1385T>C (p.Met462Thr)
 ClinVar dbSNP
17g.42543334T>GCA399601899NAGLUc.1328T>G (p.Met443Arg)
c.666T>G (n.666T>G)
c.367T>G
c.497T>G (p.Met166Arg)
c.329T>G (p.Met110Arg)
c.1385T>G (p.Met462Arg)
17g.42543334T=CA2260530218NAGLUc.1328T= (p.Met443=)
c.666T= (n.666T=)
c.367T=
c.497T= (p.Met166=)
c.329T= (p.Met110=)
c.1385T= (p.Met462=)
17g.42543335G>ACA399601903NAGLUc.1329G>A (p.Met443Ile)
c.667G>A (n.667G>A)
c.368G>A
c.498G>A (p.Met166Ile)
c.330G>A (p.Met110Ile)
c.1386G>A (p.Met462Ile)
 ClinVar dbSNP gnomAD v2
17g.42543335G>CCA399601904NAGLUc.1329G>C (p.Met443Ile)
c.667G>C (n.667G>C)
c.368G>C
c.498G>C (p.Met166Ile)
c.330G>C (p.Met110Ile)
c.1386G>C (p.Met462Ile)
17g.42543335G=CA2260530219NAGLUc.1329G= (p.Met443=)
c.667G= (n.667G=)
c.368G=
c.498G= (p.Met166=)
c.330G= (p.Met110=)
c.1386G= (p.Met462=)
17g.42543335G>TCA399601905NAGLUc.1329G>T (p.Met443Ile)
c.667G>T (n.667G>T)
c.368G>T
c.498G>T (p.Met166Ile)
c.330G>T (p.Met110Ile)
c.1386G>T (p.Met462Ile)
17g.42543336G>ACA290780351NAGLUc.1330G>A (p.Ala444Thr)
c.668G>A (n.668G>A)
c.369G>A
c.499G>A (p.Ala167Thr)
c.331G>A (p.Ala111Thr)
c.1387G>A (p.Ala463Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42543336G>CCA399601908NAGLUc.1330G>C (p.Ala444Pro)
c.668G>C (n.668G>C)
c.369G>C
c.499G>C (p.Ala167Pro)
c.331G>C (p.Ala111Pro)
c.1387G>C (p.Ala463Pro)
17g.42543336G=CA2260530220NAGLUc.1330G= (p.Ala444=)
c.668G= (n.668G=)
c.369G=
c.499G= (p.Ala167=)
c.331G= (p.Ala111=)
c.1387G= (p.Ala463=)
17g.42543336G>TCA399601910NAGLUc.1330G>T (p.Ala444Ser)
c.668G>T (n.668G>T)
c.369G>T
c.499G>T (p.Ala167Ser)
c.331G>T (p.Ala111Ser)
c.1387G>T (p.Ala463Ser)
 gnomAD v4
17g.42543337C>ACA8576999NAGLUc.1331C>A (p.Ala444Asp)
c.669C>A (n.669C>A)
c.370C>A
c.500C>A (p.Ala167Asp)
c.332C>A (p.Ala111Asp)
c.1388C>A (p.Ala463Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42543337C=CA2260530221NAGLUc.1331C= (p.Ala444=)
c.669C= (n.669C=)
c.370C=
c.500C= (p.Ala167=)
c.332C= (p.Ala111=)
c.1388C= (p.Ala463=)
17g.42543337C>GCA399601913NAGLUc.1331C>G (p.Ala444Gly)
c.669C>G (n.669C>G)
c.370C>G
c.500C>G (p.Ala167Gly)
c.332C>G (p.Ala111Gly)
c.1388C>G (p.Ala463Gly)
 gnomAD v4
17g.42543337C>TCA8576998NAGLUc.1331C>T (p.Ala444Val)
c.669C>T (n.669C>T)
c.370C>T
c.500C>T (p.Ala167Val)
c.332C>T (p.Ala111Val)
c.1388C>T (p.Ala463Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543341delCA2637971192NAGLUc.1335del (p.Glu446ArgfsTer?)
c.673del (n.673del)
c.374del
c.504del (p.Glu169ArgfsTer?)
c.336del (p.Glu113ArgfsTer?)
c.1392del (p.Glu465ArgfsTer?)
 gnomAD v4
17g.42543338C>ACA500216888NAGLUc.1332C>A (p.Ala444=)
c.670C>A (n.670C>A)
c.371C>A
c.501C>A (p.Ala167=)
c.333C>A (p.Ala111=)
c.1389C>A (p.Ala463=)
17g.42543338C>GCA500216889NAGLUc.1332C>G (p.Ala444=)
c.670C>G (n.670C>G)
c.371C>G
c.501C>G (p.Ala167=)
c.333C>G (p.Ala111=)
c.1389C>G (p.Ala463=)
17g.42543338C>TCA500216887NAGLUc.1332C>T (p.Ala444=)
c.670C>T (n.670C>T)
c.371C>T
c.501C>T (p.Ala167=)
c.333C>T (p.Ala111=)
c.1389C>T (p.Ala463=)
 ClinVar dbSNP
17g.42543339C>ACA399601916NAGLUc.1333C>A (p.Pro445Thr)
c.671C>A (n.671C>A)
c.372C>A
c.502C>A (p.Pro168Thr)
c.334C>A (p.Pro112Thr)
c.1390C>A (p.Pro464Thr)
17g.42543339C=CA2260530222NAGLUc.1333C= (p.Pro445=)
c.671C= (n.671C=)
c.372C=
c.502C= (p.Pro168=)
c.334C= (p.Pro112=)
c.1390C= (p.Pro464=)
17g.42543339C>GCA399601918NAGLUc.1333C>G (p.Pro445Ala)
c.671C>G (n.671C>G)
c.372C>G
c.502C>G (p.Pro168Ala)
c.334C>G (p.Pro112Ala)
c.1390C>G (p.Pro464Ala)
17g.42543339C>TCA8577000NAGLUc.1333C>T (p.Pro445Ser)
c.671C>T (n.671C>T)
c.372C>T
c.502C>T (p.Pro168Ser)
c.334C>T (p.Pro112Ser)
c.1390C>T (p.Pro464Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42543340C>ACA399601923NAGLUc.1334C>A (p.Pro445His)
c.672C>A (n.672C>A)
c.373C>A
c.503C>A (p.Pro168His)
c.335C>A (p.Pro112His)
c.1391C>A (p.Pro464His)
17g.42543340C>GCA399601925NAGLUc.1334C>G (p.Pro445Arg)
c.672C>G (n.672C>G)
c.373C>G
c.503C>G (p.Pro168Arg)
c.335C>G (p.Pro112Arg)
c.1391C>G (p.Pro464Arg)
17g.42543340C>TCA399601921NAGLUc.1334C>T (p.Pro445Leu)
c.672C>T (n.672C>T)
c.373C>T
c.503C>T (p.Pro168Leu)
c.335C>T (p.Pro112Leu)
c.1391C>T (p.Pro464Leu)
17g.42543341C>ACA500216891NAGLUc.1335C>A (p.Pro445=)
c.673C>A (n.673C>A)
c.374C>A
c.504C>A (p.Pro168=)
c.336C>A (p.Pro112=)
c.1392C>A (p.Pro464=)
17g.42543341C=CA2260530223NAGLUc.1335C= (p.Pro445=)
c.673C= (n.673C=)
c.374C=
c.504C= (p.Pro168=)
c.336C= (p.Pro112=)
c.1392C= (p.Pro464=)
17g.42543341C>GCA500216890NAGLUc.1335C>G (p.Pro445=)
c.673C>G (n.673C>G)
c.374C>G
c.504C>G (p.Pro168=)
c.336C>G (p.Pro112=)
c.1392C>G (p.Pro464=)
 ClinVar
17g.42543341C>TCA8577001NAGLUc.1335C>T (p.Pro445=)
c.673C>T (n.673C>T)
c.374C>T
c.504C>T (p.Pro168=)
c.336C>T (p.Pro112=)
c.1392C>T (p.Pro464=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543342delCA2573153973NAGLUc.1336del (p.Glu446ArgfsTer30)
c.674del (n.674del)
c.375del
c.505del (p.Glu169ArgfsTer30)
c.337del (p.Glu113ArgfsTer30)
c.1393del (p.Glu465ArgfsTer30)
 ClinVar dbSNP
17g.42543342G>ACA8577002NAGLUc.1336G>A (p.Glu446Lys)
c.674G>A (n.674G>A)
c.375G>A
c.505G>A (p.Glu169Lys)
c.337G>A (p.Glu113Lys)
c.1393G>A (p.Glu465Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42543342G>CCA399601929NAGLUc.1336G>C (p.Glu446Gln)
c.674G>C (n.674G>C)
c.375G>C
c.505G>C (p.Glu169Gln)
c.337G>C (p.Glu113Gln)
c.1393G>C (p.Glu465Gln)
17g.42543342G=CA2260530224NAGLUc.1336G= (p.Glu446=)
c.674G= (n.674G=)
c.375G=
c.505G= (p.Glu169=)
c.337G= (p.Glu113=)
c.1393G= (p.Glu465=)
17g.42543342G>TCA399601928NAGLUc.1336G>T (p.Glu446Ter)
c.674G>T (n.674G>T)
c.375G>T
c.505G>T (p.Glu169Ter)
c.337G>T (p.Glu113Ter)
c.1393G>T (p.Glu465Ter)
17g.42543343A>CCA399601932NAGLUc.1337A>C (p.Glu446Ala)
c.675A>C (n.675A>C)
c.376A>C
c.506A>C (p.Glu169Ala)
c.338A>C (p.Glu113Ala)
c.1394A>C (p.Glu465Ala)
17g.42543343A>GCA399601933NAGLUc.1337A>G (p.Glu446Gly)
c.675A>G (n.675A>G)
c.376A>G
c.506A>G (p.Glu169Gly)
c.338A>G (p.Glu113Gly)
c.1394A>G (p.Glu465Gly)
 ClinVar
17g.42543343A>TCA399601934NAGLUc.1337A>T (p.Glu446Val)
c.675A>T (n.675A>T)
c.376A>T
c.506A>T (p.Glu169Val)
c.338A>T (p.Glu113Val)
c.1394A>T (p.Glu465Val)
17g.42543344G>ACA500216892NAGLUc.1338G>A (p.Glu446=)
c.676G>A (n.676G>A)
c.377G>A
c.507G>A (p.Glu169=)
c.339G>A (p.Glu113=)
c.1395G>A (p.Glu465=)
 dbSNP gnomAD v3 gnomAD v4
17g.42543344G>CCA399601937NAGLUc.1338G>C (p.Glu446Asp)
c.676G>C (n.676G>C)
c.377G>C
c.507G>C (p.Glu169Asp)
c.339G>C (p.Glu113Asp)
c.1395G>C (p.Glu465Asp)
17g.42543344G=CA2260530225NAGLUc.1338G= (p.Glu446=)
c.676G= (n.676G=)
c.377G=
c.507G= (p.Glu169=)
c.339G= (p.Glu113=)
c.1395G= (p.Glu465=)
17g.42543344G>TCA399601939NAGLUc.1338G>T (p.Glu446Asp)
c.676G>T (n.676G>T)
c.377G>T
c.507G>T (p.Glu169Asp)
c.339G>T (p.Glu113Asp)
c.1395G>T (p.Glu465Asp)
 COSMIC
17g.42543345G>ACA399601940NAGLUc.1339G>A (p.Gly447Ser)
c.677G>A (n.677G>A)
c.378G>A
c.508G>A (p.Gly170Ser)
c.340G>A (p.Gly114Ser)
c.1396G>A (p.Gly466Ser)
17g.42543345G>CCA399601941NAGLUc.1339G>C (p.Gly447Arg)
c.677G>C (n.677G>C)
c.378G>C
c.508G>C (p.Gly170Arg)
c.340G>C (p.Gly114Arg)
c.1396G>C (p.Gly466Arg)
17g.42543345G>TCA399601943NAGLUc.1339G>T (p.Gly447Cys)
c.677G>T (n.677G>T)
c.378G>T
c.508G>T (p.Gly170Cys)
c.340G>T (p.Gly114Cys)
c.1396G>T (p.Gly466Cys)
17g.42543346G>ACA399601946NAGLUc.1340G>A (p.Gly447Asp)
c.678G>A (n.678G>A)
c.379G>A
c.509G>A (p.Gly170Asp)
c.341G>A (p.Gly114Asp)
c.1397G>A (p.Gly466Asp)
17g.42543346G>CCA399601947NAGLUc.1340G>C (p.Gly447Ala)
c.678G>C (n.678G>C)
c.379G>C
c.509G>C (p.Gly170Ala)
c.341G>C (p.Gly114Ala)
c.1397G>C (p.Gly466Ala)
17g.42543346G>TCA399601949NAGLUc.1340G>T (p.Gly447Val)
c.678G>T (n.678G>T)
c.379G>T
c.509G>T (p.Gly170Val)
c.341G>T (p.Gly114Val)
c.1397G>T (p.Gly466Val)
17g.42543347C>ACA500216894NAGLUc.1341C>A (p.Gly447=)
c.679C>A (n.679C>A)
c.380C>A
c.510C>A (p.Gly170=)
c.342C>A (p.Gly114=)
c.1398C>A (p.Gly466=)
17g.42543347C>GCA500216893NAGLUc.1341C>G (p.Gly447=)
c.679C>G (n.679C>G)
c.380C>G
c.510C>G (p.Gly170=)
c.342C>G (p.Gly114=)
c.1398C>G (p.Gly466=)
17g.42543347C>TCA500216895NAGLUc.1341C>T (p.Gly447=)
c.679C>T (n.679C>T)
c.380C>T
c.510C>T (p.Gly170=)
c.342C>T (p.Gly114=)
c.1398C>T (p.Gly466=)
17g.42543348A>CCA399601954NAGLUc.1342A>C (p.Ile448Leu)
c.680A>C (n.680A>C)
c.381A>C
c.511A>C (p.Ile171Leu)
c.343A>C (p.Ile115Leu)
c.1399A>C (p.Ile467Leu)
17g.42543348A>GCA399601953NAGLUc.1342A>G (p.Ile448Val)
c.680A>G (n.680A>G)
c.381A>G
c.511A>G (p.Ile171Val)
c.343A>G (p.Ile115Val)
c.1399A>G (p.Ile467Val)
 gnomAD v4
17g.42543348A>TCA399601951NAGLUc.1342A>T (p.Ile448Phe)
c.680A>T (n.680A>T)
c.381A>T
c.511A>T (p.Ile171Phe)
c.343A>T (p.Ile115Phe)
c.1399A>T (p.Ile467Phe)
17g.42543349T>ACA399601955NAGLUc.1343T>A (p.Ile448Asn)
c.681T>A (n.681T>A)
c.382T>A
c.512T>A (p.Ile171Asn)
c.344T>A (p.Ile115Asn)
c.1400T>A (p.Ile467Asn)
17g.42543349T>CCA399601957NAGLUc.1343T>C (p.Ile448Thr)
c.681T>C (n.681T>C)
c.382T>C
c.512T>C (p.Ile171Thr)
c.344T>C (p.Ile115Thr)
c.1400T>C (p.Ile467Thr)
 gnomAD v4
17g.42543349T>GCA399601959NAGLUc.1343T>G (p.Ile448Ser)
c.681T>G (n.681T>G)
c.382T>G
c.512T>G (p.Ile171Ser)
c.344T>G (p.Ile115Ser)
c.1400T>G (p.Ile467Ser)
17g.42543350C>ACA500216897NAGLUc.1344C>A (p.Ile448=)
c.682C>A (n.682C>A)
c.383C>A
c.513C>A (p.Ile171=)
c.345C>A (p.Ile115=)
c.1401C>A (p.Ile467=)
17g.42543350C=CA2260530226NAGLUc.1344C= (p.Ile448=)
c.682C= (n.682C=)
c.383C=
c.513C= (p.Ile171=)
c.345C= (p.Ile115=)
c.1401C= (p.Ile467=)
17g.42543350C>GCA399601961NAGLUc.1344C>G (p.Ile448Met)
c.682C>G (n.682C>G)
c.383C>G
c.513C>G (p.Ile171Met)
c.345C>G (p.Ile115Met)
c.1401C>G (p.Ile467Met)
 dbSNP
17g.42543350C>TCA500216896NAGLUc.1344C>T (p.Ile448=)
c.682C>T (n.682C>T)
c.383C>T
c.513C>T (p.Ile171=)
c.345C>T (p.Ile115=)
c.1401C>T (p.Ile467=)
 ClinVar dbSNP
17g.42543351A>CCA399601963NAGLUc.1345A>C (p.Ser449Arg)
c.683A>C (n.683A>C)
c.384A>C
c.514A>C (p.Ser172Arg)
c.346A>C (p.Ser116Arg)
c.1402A>C (p.Ser468Arg)
17g.42543351A>GCA399601965NAGLUc.1345A>G (p.Ser449Gly)
c.683A>G (n.683A>G)
c.384A>G
c.514A>G (p.Ser172Gly)
c.346A>G (p.Ser116Gly)
c.1402A>G (p.Ser468Gly)
17g.42543351A>TCA399601967NAGLUc.1345A>T (p.Ser449Cys)
c.683A>T (n.683A>T)
c.384A>T
c.514A>T (p.Ser172Cys)
c.346A>T (p.Ser116Cys)
c.1402A>T (p.Ser468Cys)
17g.42543352G>ACA8577003NAGLUc.1346G>A (p.Ser449Asn)
c.684G>A (n.684G>A)
c.385G>A
c.515G>A (p.Ser172Asn)
c.347G>A (p.Ser116Asn)
c.1403G>A (p.Ser468Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543352G>CCA399601969NAGLUc.1346G>C (p.Ser449Thr)
c.684G>C (n.684G>C)
c.385G>C
c.515G>C (p.Ser172Thr)
c.347G>C (p.Ser116Thr)
c.1403G>C (p.Ser468Thr)
17g.42543352G=CA2260530227NAGLUc.1346G= (p.Ser449=)
c.684G= (n.684G=)
c.385G=
c.515G= (p.Ser172=)
c.347G= (p.Ser116=)
c.1403G= (p.Ser468=)
17g.42543352G>TCA399601971NAGLUc.1346G>T (p.Ser449Ile)
c.684G>T (n.684G>T)
c.385G>T
c.515G>T (p.Ser172Ile)
c.347G>T (p.Ser116Ile)
c.1403G>T (p.Ser468Ile)
17g.42543353C>ACA399601973NAGLUc.1347C>A (p.Ser449Arg)
c.685C>A (n.685C>A)
c.386C>A
c.516C>A (p.Ser172Arg)
c.348C>A (p.Ser116Arg)
c.1404C>A (p.Ser468Arg)
17g.42543353C>GCA399601975NAGLUc.1347C>G (p.Ser449Arg)
c.685C>G (n.685C>G)
c.386C>G
c.516C>G (p.Ser172Arg)
c.348C>G (p.Ser116Arg)
c.1404C>G (p.Ser468Arg)
17g.42543353C>TCA500216898NAGLUc.1347C>T (p.Ser449=)
c.685C>T (n.685C>T)
c.386C>T
c.516C>T (p.Ser172=)
c.348C>T (p.Ser116=)
c.1404C>T (p.Ser468=)
 ClinVar dbSNP
17g.42543354C>ACA399601980NAGLUc.1348C>A (p.Gln450Lys)
c.686C>A (n.686C>A)
c.387C>A
c.517C>A (p.Gln173Lys)
c.349C>A (p.Gln117Lys)
c.1405C>A (p.Gln469Lys)
17g.42543354C=CA2260530228NAGLUc.1348C= (p.Gln450=)
c.686C= (n.686C=)
c.387C=
c.517C= (p.Gln173=)
c.349C= (p.Gln117=)
c.1405C= (p.Gln469=)
17g.42543354C>GCA399601978NAGLUc.1348C>G (p.Gln450Glu)
c.686C>G (n.686C>G)
c.387C>G
c.517C>G (p.Gln173Glu)
c.349C>G (p.Gln117Glu)
c.1405C>G (p.Gln469Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42543354C>TCA399601977NAGLUc.1348C>T (p.Gln450Ter)
c.686C>T (n.686C>T)
c.387C>T
c.517C>T (p.Gln173Ter)
c.349C>T (p.Gln117Ter)
c.1405C>T (p.Gln469Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42543355A>CCA399601982NAGLUc.1349A>C (p.Gln450Pro)
c.687A>C (n.687A>C)
c.388A>C
c.518A>C (p.Gln173Pro)
c.350A>C (p.Gln117Pro)
c.1406A>C (p.Gln469Pro)
17g.42543355A>GCA399601984NAGLUc.1349A>G (p.Gln450Arg)
c.687A>G (n.687A>G)
c.388A>G
c.518A>G (p.Gln173Arg)
c.350A>G (p.Gln117Arg)
c.1406A>G (p.Gln469Arg)
 gnomAD v4
17g.42543355A>TCA399601986NAGLUc.1349A>T (p.Gln450Leu)
c.687A>T (n.687A>T)
c.388A>T
c.518A>T (p.Gln173Leu)
c.350A>T (p.Gln117Leu)
c.1406A>T (p.Gln469Leu)
17g.42543356G>ACA8577004NAGLUc.1350G>A (p.Gln450=)
c.688G>A (n.688G>A)
c.389G>A
c.519G>A (p.Gln173=)
c.351G>A (p.Gln117=)
c.1407G>A (p.Gln469=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543356G>CCA399601989NAGLUc.1350G>C (p.Gln450His)
c.688G>C (n.688G>C)
c.389G>C
c.519G>C (p.Gln173His)
c.351G>C (p.Gln117His)
c.1407G>C (p.Gln469His)
17g.42543356G=CA2260530229NAGLUc.1350G= (p.Gln450=)
c.688G= (n.688G=)
c.389G=
c.519G= (p.Gln173=)
c.351G= (p.Gln117=)
c.1407G= (p.Gln469=)
17g.42543356G>TCA399601991NAGLUc.1350G>T (p.Gln450His)
c.688G>T (n.688G>T)
c.389G>T
c.519G>T (p.Gln173His)
c.351G>T (p.Gln117His)
c.1407G>T (p.Gln469His)
 dbSNP gnomAD v2 gnomAD v4
17g.42543356_42543357insCCCGCCA919842926NAGLUc.1350_1351insCCCGC (p.Asn451ProfsTer27)
c.688_689insCCCGC (n.688_689insCCCGC)
c.389_390insCCCGC
c.519_520insCCCGC (p.Asn174ProfsTer27)
c.351_352insCCCGC (p.Asn118ProfsTer27)
c.1407_1408insCCCGC (p.Asn470ProfsTer27)
 dbSNP
17g.42543357A=CA2260530230NAGLUc.1351A= (p.Asn451=)
c.689A= (n.689A=)
c.390A=
c.520A= (p.Asn174=)
c.352A= (p.Asn118=)
c.1408A= (p.Asn470=)
17g.42543357A>CCA399601997NAGLUc.1351A>C (p.Asn451His)
c.689A>C (n.689A>C)
c.390A>C
c.520A>C (p.Asn174His)
c.352A>C (p.Asn118His)
c.1408A>C (p.Asn470His)
17g.42543357A>GCA399601996NAGLUc.1351A>G (p.Asn451Asp)
c.689A>G (n.689A>G)
c.390A>G
c.520A>G (p.Asn174Asp)
c.352A>G (p.Asn118Asp)
c.1408A>G (p.Asn470Asp)
17g.42543357A>TCA399601994NAGLUc.1351A>T (p.Asn451Tyr)
c.689A>T (n.689A>T)
c.390A>T
c.520A>T (p.Asn174Tyr)
c.352A>T (p.Asn118Tyr)
c.1408A>T (p.Asn470Tyr)
17g.42543358dupCA772114579NAGLUc.1352dup (p.Asn451LysfsTer10)
c.690dup (n.690dup)
c.391dup
c.521dup (p.Asn174LysfsTer10)
c.353dup (p.Asn118LysfsTer10)
c.1409dup (p.Asn470LysfsTer10)
 dbSNP
17g.42543357_42543358insCCA919842927NAGLUc.1351_1352insC (p.Asn451ThrfsTer10)
c.689_690insC (n.689_690insC)
c.390_391insC
c.520_521insC (p.Asn174ThrfsTer10)
c.352_353insC (p.Asn118ThrfsTer10)
c.1408_1409insC (p.Asn470ThrfsTer10)
 dbSNP
17g.42543358A>CCA399602000NAGLUc.1352A>C (p.Asn451Thr)
c.690A>C (n.690A>C)
c.391A>C
c.521A>C (p.Asn174Thr)
c.353A>C (p.Asn118Thr)
c.1409A>C (p.Asn470Thr)
17g.42543358A>GCA399602001NAGLUc.1352A>G (p.Asn451Ser)
c.690A>G (n.690A>G)
c.391A>G
c.521A>G (p.Asn174Ser)
c.353A>G (p.Asn118Ser)
c.1409A>G (p.Asn470Ser)
17g.42543358A>TCA399602003NAGLUc.1352A>T (p.Asn451Ile)
c.690A>T (n.690A>T)
c.391A>T
c.521A>T (p.Asn174Ile)
c.353A>T (p.Asn118Ile)
c.1409A>T (p.Asn470Ile)
17g.42543359C>ACA399602005NAGLUc.1353C>A (p.Asn451Lys)
c.691C>A (n.691C>A)
c.392C>A
c.522C>A (p.Asn174Lys)
c.354C>A (p.Asn118Lys)
c.1410C>A (p.Asn470Lys)
17g.42543359C=CA2260530231NAGLUc.1353C= (p.Asn451=)
c.691C= (n.691C=)
c.392C=
c.522C= (p.Asn174=)
c.354C= (p.Asn118=)
c.1410C= (p.Asn470=)
17g.42543359C>GCA399602007NAGLUc.1353C>G (p.Asn451Lys)
c.691C>G (n.691C>G)
c.392C>G
c.522C>G (p.Asn174Lys)
c.354C>G (p.Asn118Lys)
c.1410C>G (p.Asn470Lys)
17g.42543359C>TCA8577005NAGLUc.1353C>T (p.Asn451=)
c.691C>T (n.691C>T)
c.392C>T
c.522C>T (p.Asn174=)
c.354C>T (p.Asn118=)
c.1410C>T (p.Asn470=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.42543359_42543360insCGCGTTCA2260530232NAGLUc.1353_1354insCGCGTT (p.Asn451_Glu452insArgVal)
c.691_692insCGCGTT (n.691_692insCGCGTT)
c.392_393insCGCGTT
c.522_523insCGCGTT (p.Asn174_Glu175insArgVal)
c.354_355insCGCGTT (p.Asn118_Glu119insArgVal)
c.1410_1411insCGCGTT (p.Asn470_Glu471insArgVal)
 dbSNP
17g.42543360G>ACA399602009NAGLUc.1354G>A (p.Glu452Lys)
c.692G>A (n.692G>A)
c.393G>A
c.523G>A (p.Glu175Lys)
c.355G>A (p.Glu119Lys)
c.1411G>A (p.Glu471Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
17g.42543360G>CCA399602013NAGLUc.1354G>C (p.Glu452Gln)
c.692G>C (n.692G>C)
c.393G>C
c.523G>C (p.Glu175Gln)
c.355G>C (p.Glu119Gln)
c.1411G>C (p.Glu471Gln)
17g.42543360G=CA2260530233NAGLUc.1354G= (p.Glu452=)
c.692G= (n.692G=)
c.393G=
c.523G= (p.Glu175=)
c.355G= (p.Glu119=)
c.1411G= (p.Glu471=)
17g.42543360G>TCA399602011NAGLUc.1354G>T (p.Glu452Ter)
c.692G>T (n.692G>T)
c.393G>T
c.523G>T (p.Glu175Ter)
c.355G>T (p.Glu119Ter)
c.1411G>T (p.Glu471Ter)
17g.42543361A=CA2260530234NAGLUc.1355A= (p.Glu452=)
c.693A= (n.693A=)
c.394A=
c.524A= (p.Glu175=)
c.356A= (p.Glu119=)
c.1412A= (p.Glu471=)
17g.42543361A>CCA399602016NAGLUc.1355A>C (p.Glu452Ala)
c.693A>C (n.693A>C)
c.394A>C
c.524A>C (p.Glu175Ala)
c.356A>C (p.Glu119Ala)
c.1412A>C (p.Glu471Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42543361A>GCA399602017NAGLUc.1355A>G (p.Glu452Gly)
c.693A>G (n.693A>G)
c.394A>G
c.524A>G (p.Glu175Gly)
c.356A>G (p.Glu119Gly)
c.1412A>G (p.Glu471Gly)
 dbSNP
17g.42543361A>TCA399602021NAGLUc.1355A>T (p.Glu452Val)
c.693A>T (n.693A>T)
c.394A>T
c.524A>T (p.Glu175Val)
c.356A>T (p.Glu119Val)
c.1412A>T (p.Glu471Val)
17g.42543362A=CA2260530235NAGLUc.1356A= (p.Glu452=)
c.694A= (n.694A=)
c.395A=
c.525A= (p.Glu175=)
c.357A= (p.Glu119=)
c.1413A= (p.Glu471=)
17g.42543362A>CCA399602023NAGLUc.1356A>C (p.Glu452Asp)
c.694A>C (n.694A>C)
c.395A>C
c.525A>C (p.Glu175Asp)
c.357A>C (p.Glu119Asp)
c.1413A>C (p.Glu471Asp)
17g.42543362A>GCA500216899NAGLUc.1356A>G (p.Glu452=)
c.694A>G (n.694A>G)
c.395A>G
c.525A>G (p.Glu175=)
c.357A>G (p.Glu119=)
c.1413A>G (p.Glu471=)
 dbSNP
17g.42543362A>TCA399602024NAGLUc.1356A>T (p.Glu452Asp)
c.694A>T (n.694A>T)
c.395A>T
c.525A>T (p.Glu175Asp)
c.357A>T (p.Glu119Asp)
c.1413A>T (p.Glu471Asp)
17g.42543363G>ACA399602025NAGLUc.1357G>A (p.Val453Met)
c.695G>A (n.695G>A)
c.396G>A
c.526G>A (p.Val176Met)
c.358G>A (p.Val120Met)
c.1414G>A (p.Val472Met)
17g.42543363G>CCA399602027NAGLUc.1357G>C (p.Val453Leu)
c.695G>C (n.695G>C)
c.396G>C
c.526G>C (p.Val176Leu)
c.358G>C (p.Val120Leu)
c.1414G>C (p.Val472Leu)
17g.42543363G>TCA399602029NAGLUc.1357G>T (p.Val453Leu)
c.695G>T (n.695G>T)
c.396G>T
c.526G>T (p.Val176Leu)
c.358G>T (p.Val120Leu)
c.1414G>T (p.Val472Leu)
17g.42543364T>ACA399602031NAGLUc.1358T>A (p.Val453Glu)
c.696T>A (n.696T>A)
c.397T>A
c.527T>A (p.Val176Glu)
c.359T>A (p.Val120Glu)
c.1415T>A (p.Val472Glu)
17g.42543364T>CCA399602033NAGLUc.1358T>C (p.Val453Ala)
c.696T>C (n.696T>C)
c.397T>C
c.527T>C (p.Val176Ala)
c.359T>C (p.Val120Ala)
c.1415T>C (p.Val472Ala)
17g.42543364T>GCA399602035NAGLUc.1358T>G (p.Val453Gly)
c.696T>G (n.696T>G)
c.397T>G
c.527T>G (p.Val176Gly)
c.359T>G (p.Val120Gly)
c.1415T>G (p.Val472Gly)
17g.42543364dupCA2809525049NAGLUc.1358dup (p.Val454GlyfsTer7)
c.696dup (n.696dup)
c.397dup
c.527dup (p.Val177GlyfsTer7)
c.359dup (p.Val121GlyfsTer7)
c.1415dup (p.Val473GlyfsTer7)
17g.42543364_42543365insTGCGGACACCGTCCA2741537161NAGLUc.1358_1359insTGCGGACACCGTC (p.Val454AlafsTer11)
c.696_697insTGCGGACACCGTC (n.696_697insTGCGGACACCGTC)
c.397_398insTGCGGACACCGTC
c.527_528insTGCGGACACCGTC (p.Val177AlafsTer11)
c.359_360insTGCGGACACCGTC (p.Val121AlafsTer11)
c.1415_1416insTGCGGACACCGTC (p.Val473AlafsTer11)
17g.42543364_42543365insATTTTTAGTAGAGACGGGGTTTCGCTATGTACA2637971193NAGLUc.1358_1359insATTTTTAGTAGAGACGGGGTTTCGCTATGTA (p.Val454PhefsTer17)
c.696_697insATTTTTAGTAGAGACGGGGTTTCGCTATGTA (n.696_697insATTTTTAGTAGAGACGGGGTTTCGCTATGTA)
c.397_398insATTTTTAGTAGAGACGGGGTTTCGCTATGTA
c.527_528insATTTTTAGTAGAGACGGGGTTTCGCTATGTA (p.Val177PhefsTer17)
c.359_360insATTTTTAGTAGAGACGGGGTTTCGCTATGTA (p.Val121PhefsTer17)
c.1415_1416insATTTTTAGTAGAGACGGGGTTTCGCTATGTA (p.Val473PhefsTer17)
 gnomAD v4
17g.42543365G>ACA8577006NAGLUc.1359G>A (p.Val453=)
c.697G>A (n.697G>A)
c.398G>A
c.528G>A (p.Val176=)
c.360G>A (p.Val120=)
c.1416G>A (p.Val472=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42543365G>CCA500216900NAGLUc.1359G>C (p.Val453=)
c.697G>C (n.697G>C)
c.398G>C
c.528G>C (p.Val176=)
c.360G>C (p.Val120=)
c.1416G>C (p.Val472=)
 gnomAD v4
17g.42543365G=CA2260530236NAGLUc.1359G= (p.Val453=)
c.697G= (n.697G=)
c.398G=
c.528G= (p.Val176=)
c.360G= (p.Val120=)
c.1416G= (p.Val472=)
17g.42543365G>TCA500216901NAGLUc.1359G>T (p.Val453=)
c.697G>T (n.697G>T)
c.398G>T
c.528G>T (p.Val176=)
c.360G>T (p.Val120=)
c.1416G>T (p.Val472=)
 ClinVar
17g.42543365_42543366insCGGACACCCA2809525051NAGLUc.1359_1360insCGGACACC (p.Val454ArgfsTer25)
c.697_698insCGGACACC (n.697_698insCGGACACC)
c.398_399insCGGACACC
c.528_529insCGGACACC (p.Val177ArgfsTer25)
c.360_361insCGGACACC (p.Val121ArgfsTer25)
c.1416_1417insCGGACACC (p.Val473ArgfsTer25)
17g.42543366G>ACA399602040NAGLUc.1360G>A (p.Val454Ile)
c.698G>A (n.698G>A)
c.399G>A
c.529G>A (p.Val177Ile)
c.361G>A (p.Val121Ile)
c.1417G>A (p.Val473Ile)
 dbSNP gnomAD v4
17g.42543366G>CCA399602042NAGLUc.1360G>C (p.Val454Leu)
c.698G>C (n.698G>C)
c.399G>C
c.529G>C (p.Val177Leu)
c.361G>C (p.Val121Leu)
c.1417G>C (p.Val473Leu)
17g.42543366G=CA2260530237NAGLUc.1360G= (p.Val454=)
c.698G= (n.698G=)
c.399G=
c.529G= (p.Val177=)
c.361G= (p.Val121=)
c.1417G= (p.Val473=)
17g.42543366G>TCA8577007NAGLUc.1360G>T (p.Val454Phe)
c.698G>T (n.698G>T)
c.399G>T
c.529G>T (p.Val177Phe)
c.361G>T (p.Val121Phe)
c.1417G>T (p.Val473Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42543366_42543369dupCA645588247NAGLUc.1360_1363dup (p.Tyr455CysfsTer7)
c.698_701dup (n.698_701dup)
c.399_402dup
c.529_532dup (p.Tyr178CysfsTer7)
c.361_364dup (p.Tyr122CysfsTer7)
c.1417_1420dup (p.Tyr474CysfsTer7)
 COSMIC
17g.42543367T>ACA399602049NAGLUc.1361T>A (p.Val454Asp)
c.699T>A (n.699T>A)
c.400T>A
c.530T>A (p.Val177Asp)
c.362T>A (p.Val121Asp)
c.1418T>A (p.Val473Asp)
17g.42543367T>CCA399602045NAGLUc.1361T>C (p.Val454Ala)
c.699T>C (n.699T>C)
c.400T>C
c.530T>C (p.Val177Ala)
c.362T>C (p.Val121Ala)
c.1418T>C (p.Val473Ala)
17g.42543367T>GCA399602052NAGLUc.1361T>G (p.Val454Gly)
c.699T>G (n.699T>G)
c.400T>G
c.530T>G (p.Val177Gly)
c.362T>G (p.Val121Gly)
c.1418T>G (p.Val473Gly)
17g.42543367_42543368insGCA2741537162NAGLUc.1361_1362insG (p.Tyr455LeufsTer6)
c.699_700insG (n.699_700insG)
c.400_401insG
c.530_531insG (p.Tyr178LeufsTer6)
c.362_363insG (p.Tyr122LeufsTer6)
c.1418_1419insG (p.Tyr474LeufsTer6)
17g.42543368C>ACA500216902NAGLUc.1362C>A (p.Val454=)
c.700C>A (n.700C>A)
c.401C>A
c.531C>A (p.Val177=)
c.363C>A (p.Val121=)
c.1419C>A (p.Val473=)
17g.42543368C>GCA500216903NAGLUc.1362C>G (p.Val454=)
c.700C>G (n.700C>G)
c.401C>G
c.531C>G (p.Val177=)
c.363C>G (p.Val121=)
c.1419C>G (p.Val473=)
17g.42543368C>TCA500216904NAGLUc.1362C>T (p.Val454=)
c.700C>T (n.700C>T)
c.401C>T
c.531C>T (p.Val177=)
c.363C>T (p.Val121=)
c.1419C>T (p.Val473=)
17g.42543368_42543369insGGCA2809525052NAGLUc.1362_1363insGG (p.Tyr455GlyfsTer22)
c.700_701insGG (n.700_701insGG)
c.401_402insGG
c.531_532insGG (p.Tyr178GlyfsTer22)
c.363_364insGG (p.Tyr122GlyfsTer22)
c.1419_1420insGG (p.Tyr474GlyfsTer22)
17g.42543369T>ACA399602057NAGLUc.1363T>A (p.Tyr455Asn)
c.701T>A (n.701T>A)
c.402T>A
c.532T>A (p.Tyr178Asn)
c.364T>A (p.Tyr122Asn)
c.1420T>A (p.Tyr474Asn)
17g.42543369T>CCA399602062NAGLUc.1363T>C (p.Tyr455His)
c.701T>C (n.701T>C)
c.402T>C
c.532T>C (p.Tyr178His)
c.364T>C (p.Tyr122His)
c.1420T>C (p.Tyr474His)
17g.42543369T>GCA399602060NAGLUc.1363T>G (p.Tyr455Asp)
c.701T>G (n.701T>G)
c.402T>G
c.532T>G (p.Tyr178Asp)
c.364T>G (p.Tyr122Asp)
c.1420T>G (p.Tyr474Asp)
17g.42543369_42543370insGGCGCA2741537163NAGLUc.1363_1364insGGCG (p.Tyr455TrpfsTer7)
c.701_702insGGCG (n.701_702insGGCG)
c.402_403insGGCG
c.532_533insGGCG (p.Tyr178TrpfsTer7)
c.364_365insGGCG (p.Tyr122TrpfsTer7)
c.1420_1421insGGCG (p.Tyr474TrpfsTer7)
17g.42543369_42543370insGCCGGTGCA2809525053NAGLUc.1363_1364insGCCGGTG (p.Tyr455CysfsTer3)
c.701_702insGCCGGTG (n.701_702insGCCGGTG)
c.402_403insGCCGGTG
c.532_533insGCCGGTG (p.Tyr178CysfsTer3)
c.364_365insGCCGGTG (p.Tyr122CysfsTer3)
c.1420_1421insGCCGGTG (p.Tyr474CysfsTer3)
17g.42543370A=CA2260530238NAGLUc.1364A= (p.Tyr455=)
c.702A= (n.702A=)
c.403A=
c.533A= (p.Tyr178=)
c.365A= (p.Tyr122=)
c.1421A= (p.Tyr474=)
17g.42543370A>CCA8577008NAGLUc.1364A>C (p.Tyr455Ser)
c.702A>C (n.702A>C)
c.403A>C
c.533A>C (p.Tyr178Ser)
c.365A>C (p.Tyr122Ser)
c.1421A>C (p.Tyr474Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42543370A>GCA220552NAGLUc.1364A>G (p.Tyr455Cys)
c.702A>G (n.702A>G)
c.403A>G
c.533A>G (p.Tyr178Cys)
c.365A>G (p.Tyr122Cys)
c.1421A>G (p.Tyr474Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42543370A>TCA399602066NAGLUc.1364A>T (p.Tyr455Phe)
c.702A>T (n.702A>T)
c.403A>T
c.533A>T (p.Tyr178Phe)
c.365A>T (p.Tyr122Phe)
c.1421A>T (p.Tyr474Phe)
17g.42543371T>ACA399602070NAGLUc.1365T>A (p.Tyr455Ter)
c.703T>A (n.703T>A)
c.404T>A
c.534T>A (p.Tyr178Ter)
c.366T>A (p.Tyr122Ter)
c.1422T>A (p.Tyr474Ter)
17g.42543371T>CCA500216905NAGLUc.1365T>C (p.Tyr455=)
c.703T>C (n.703T>C)
c.404T>C
c.534T>C (p.Tyr178=)
c.366T>C (p.Tyr122=)
c.1422T>C (p.Tyr474=)
17g.42543371T>GCA399602073NAGLUc.1365T>G (p.Tyr455Ter)
c.703T>G (n.703T>G)
c.404T>G
c.534T>G (p.Tyr178Ter)
c.366T>G (p.Tyr122Ter)
c.1422T>G (p.Tyr474Ter)
17g.42543372T>ACA399602078NAGLUc.1366T>A (p.Ser456Thr)
c.704T>A (n.704T>A)
c.405T>A
c.535T>A (p.Ser179Thr)
c.367T>A (p.Ser123Thr)
c.1423T>A (p.Ser475Thr)
17g.42543372T>CCA399602081NAGLUc.1366T>C (p.Ser456Pro)
c.704T>C (n.704T>C)
c.405T>C
c.535T>C (p.Ser179Pro)
c.367T>C (p.Ser123Pro)
c.1423T>C (p.Ser475Pro)
17g.42543372T>GCA399602083NAGLUc.1366T>G (p.Ser456Ala)
c.704T>G (n.704T>G)
c.405T>G
c.535T>G (p.Ser179Ala)
c.367T>G (p.Ser123Ala)
c.1423T>G (p.Ser475Ala)
17g.42543373C>ACA399602086NAGLUc.1367C>A (p.Ser456Tyr)
c.705C>A (n.705C>A)
c.406C>A
c.536C>A (p.Ser179Tyr)
c.368C>A (p.Ser123Tyr)
c.1424C>A (p.Ser475Tyr)
17g.42543373C=CA2260530239NAGLUc.1367C= (p.Ser456=)
c.705C= (n.705C=)
c.406C=
c.536C= (p.Ser179=)
c.368C= (p.Ser123=)
c.1424C= (p.Ser475=)
17g.42543373C>GCA399602090NAGLUc.1367C>G (p.Ser456Cys)
c.705C>G (n.705C>G)
c.406C>G
c.536C>G (p.Ser179Cys)
c.368C>G (p.Ser123Cys)
c.1424C>G (p.Ser475Cys)
17g.42543373C>TCA8577009NAGLUc.1367C>T (p.Ser456Phe)
c.705C>T (n.705C>T)
c.406C>T
c.536C>T (p.Ser179Phe)
c.368C>T (p.Ser123Phe)
c.1424C>T (p.Ser475Phe)
 dbSNP ExAC gnomAD v2
17g.42543374C>ACA500216906NAGLUc.1368C>A (p.Ser456=)
c.706C>A (n.706C>A)
c.407C>A
c.537C>A (p.Ser179=)
c.369C>A (p.Ser123=)
c.1425C>A (p.Ser475=)
17g.42543374C=CA2260530240NAGLUc.1368C= (p.Ser456=)
c.706C= (n.706C=)
c.407C=
c.537C= (p.Ser179=)
c.369C= (p.Ser123=)
c.1425C= (p.Ser475=)
17g.42543374C>GCA500216907NAGLUc.1368C>G (p.Ser456=)
c.706C>G (n.706C>G)
c.407C>G
c.537C>G (p.Ser179=)
c.369C>G (p.Ser123=)
c.1425C>G (p.Ser475=)
17g.42543374C>TCA8577010NAGLUc.1368C>T (p.Ser456=)
c.706C>T (n.706C>T)
c.407C>T
c.537C>T (p.Ser179=)
c.369C>T (p.Ser123=)
c.1425C>T (p.Ser475=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543375C>ACA399602099NAGLUc.1369C>A (p.Leu457Ile)
c.707C>A (n.707C>A)
c.408C>A
c.538C>A (p.Leu180Ile)
c.370C>A (p.Leu124Ile)
c.1426C>A (p.Leu476Ile)
 gnomAD v4
17g.42543375C=CA2260530241NAGLUc.1369C= (p.Leu457=)
c.707C= (n.707C=)
c.408C=
c.538C= (p.Leu180=)
c.370C= (p.Leu124=)
c.1426C= (p.Leu476=)
17g.42543375C>GCA399602101NAGLUc.1369C>G (p.Leu457Val)
c.707C>G (n.707C>G)
c.408C>G
c.538C>G (p.Leu180Val)
c.370C>G (p.Leu124Val)
c.1426C>G (p.Leu476Val)
17g.42543375C>TCA399602103NAGLUc.1369C>T (p.Leu457Phe)
c.707C>T (n.707C>T)
c.408C>T
c.538C>T (p.Leu180Phe)
c.370C>T (p.Leu124Phe)
c.1426C>T (p.Leu476Phe)
 dbSNP
17g.42543376T>ACA399602106NAGLUc.1370T>A (p.Leu457His)
c.708T>A (n.708T>A)
c.409T>A
c.539T>A (p.Leu180His)
c.371T>A (p.Leu124His)
c.1427T>A (p.Leu476His)
17g.42543376T>CCA399602108NAGLUc.1370T>C (p.Leu457Pro)
c.708T>C (n.708T>C)
c.409T>C
c.539T>C (p.Leu180Pro)
c.371T>C (p.Leu124Pro)
c.1427T>C (p.Leu476Pro)
17g.42543376T>GCA399602110NAGLUc.1370T>G (p.Leu457Arg)
c.708T>G (n.708T>G)
c.409T>G
c.539T>G (p.Leu180Arg)
c.371T>G (p.Leu124Arg)
c.1427T>G (p.Leu476Arg)
17g.42543377C>ACA500216908NAGLUc.1371C>A (p.Leu457=)
c.709C>A (n.709C>A)
c.410C>A
c.540C>A (p.Leu180=)
c.372C>A (p.Leu124=)
c.1428C>A (p.Leu476=)
17g.42543377C=CA2260530242NAGLUc.1371C= (p.Leu457=)
c.709C= (n.709C=)
c.410C=
c.540C= (p.Leu180=)
c.372C= (p.Leu124=)
c.1428C= (p.Leu476=)
17g.42543377C>GCA500216909NAGLUc.1371C>G (p.Leu457=)
c.709C>G (n.709C>G)
c.410C>G
c.540C>G (p.Leu180=)
c.372C>G (p.Leu124=)
c.1428C>G (p.Leu476=)
 gnomAD v4
17g.42543377C>TCA500216910NAGLUc.1371C>T (p.Leu457=)
c.709C>T (n.709C>T)
c.410C>T
c.540C>T (p.Leu180=)
c.372C>T (p.Leu124=)
c.1428C>T (p.Leu476=)
 ClinVar dbSNP gnomAD v4
17g.42543378A=CA2260530243NAGLUc.1372A= (p.Met458=)
c.710A= (n.710A=)
c.411A=
c.541A= (p.Met181=)
c.373A= (p.Met125=)
c.1429A= (p.Met477=)
17g.42543378A>CCA399602114NAGLUc.1372A>C (p.Met458Leu)
c.710A>C (n.710A>C)
c.411A>C
c.541A>C (p.Met181Leu)
c.373A>C (p.Met125Leu)
c.1429A>C (p.Met477Leu)
17g.42543378A>GCA399602121NAGLUc.1372A>G (p.Met458Val)
c.710A>G (n.710A>G)
c.411A>G
c.541A>G (p.Met181Val)
c.373A>G (p.Met125Val)
c.1429A>G (p.Met477Val)
 dbSNP gnomAD v2 gnomAD v4
17g.42543378A>TCA399602116NAGLUc.1372A>T (p.Met458Leu)
c.710A>T (n.710A>T)
c.411A>T
c.541A>T (p.Met181Leu)
c.373A>T (p.Met125Leu)
c.1429A>T (p.Met477Leu)
 gnomAD v4
17g.42543379T>ACA399602123NAGLUc.1373T>A (p.Met458Lys)
c.711T>A (n.711T>A)
c.412T>A
c.542T>A (p.Met181Lys)
c.374T>A (p.Met125Lys)
c.1430T>A (p.Met477Lys)
17g.42543379T>CCA399602125NAGLUc.1373T>C (p.Met458Thr)
c.711T>C (n.711T>C)
c.412T>C
c.542T>C (p.Met181Thr)
c.374T>C (p.Met125Thr)
c.1430T>C (p.Met477Thr)
17g.42543379T>GCA399602129NAGLUc.1373T>G (p.Met458Arg)
c.711T>G (n.711T>G)
c.412T>G
c.542T>G (p.Met181Arg)
c.374T>G (p.Met125Arg)
c.1430T>G (p.Met477Arg)
17g.42543380G>ACA399602133NAGLUc.1374G>A (p.Met458Ile)
c.712G>A (n.712G>A)
c.413G>A
c.543G>A (p.Met181Ile)
c.375G>A (p.Met125Ile)
c.1431G>A (p.Met477Ile)
 gnomAD v4
17g.42543380G>CCA399602134NAGLUc.1374G>C (p.Met458Ile)
c.712G>C (n.712G>C)
c.413G>C
c.543G>C (p.Met181Ile)
c.375G>C (p.Met125Ile)
c.1431G>C (p.Met477Ile)
17g.42543380G>TCA399602137NAGLUc.1374G>T (p.Met458Ile)
c.712G>T (n.712G>T)
c.413G>T
c.543G>T (p.Met181Ile)
c.375G>T (p.Met125Ile)
c.1431G>T (p.Met477Ile)
17g.42543381G>ACA399602141NAGLUc.1375G>A (p.Ala459Thr)
c.713G>A (n.713G>A)
c.414G>A
c.544G>A (p.Ala182Thr)
c.376G>A (p.Ala126Thr)
c.1432G>A (p.Ala478Thr)
 gnomAD v4
17g.42543381G>CCA399602144NAGLUc.1375G>C (p.Ala459Pro)
c.713G>C (n.713G>C)
c.414G>C
c.544G>C (p.Ala182Pro)
c.376G>C (p.Ala126Pro)
c.1432G>C (p.Ala478Pro)
17g.42543381G>TCA399602147NAGLUc.1375G>T (p.Ala459Ser)
c.713G>T (n.713G>T)
c.414G>T
c.544G>T (p.Ala182Ser)
c.376G>T (p.Ala126Ser)
c.1432G>T (p.Ala478Ser)
17g.42543382C>ACA399602149NAGLUc.1376C>A (p.Ala459Asp)
c.714C>A (n.714C>A)
c.415C>A
c.545C>A (p.Ala182Asp)
c.377C>A (p.Ala126Asp)
c.1433C>A (p.Ala478Asp)
 gnomAD v4
17g.42543382C>GCA399602150NAGLUc.1376C>G (p.Ala459Gly)
c.714C>G (n.714C>G)
c.415C>G
c.545C>G (p.Ala182Gly)
c.377C>G (p.Ala126Gly)
c.1433C>G (p.Ala478Gly)
17g.42543382C>TCA399602151NAGLUc.1376C>T (p.Ala459Val)
c.714C>T (n.714C>T)
c.415C>T
c.545C>T (p.Ala182Val)
c.377C>T (p.Ala126Val)
c.1433C>T (p.Ala478Val)
 ClinVar dbSNP
17g.42543383T>ACA500216913NAGLUc.1377T>A (p.Ala459=)
c.715T>A (n.715T>A)
c.416T>A
c.546T>A (p.Ala182=)
c.378T>A (p.Ala126=)
c.1434T>A (p.Ala478=)
17g.42543383T>CCA500216911NAGLUc.1377T>C (p.Ala459=)
c.715T>C (n.715T>C)
c.416T>C
c.546T>C (p.Ala182=)
c.378T>C (p.Ala126=)
c.1434T>C (p.Ala478=)
 gnomAD v4
17g.42543383T>GCA500216912NAGLUc.1377T>G (p.Ala459=)
c.715T>G (n.715T>G)
c.416T>G
c.546T>G (p.Ala182=)
c.378T>G (p.Ala126=)
c.1434T>G (p.Ala478=)
17g.42543384G>ACA399602153NAGLUc.1378G>A (p.Glu460Lys)
c.716G>A (n.716G>A)
c.417G>A
c.547G>A (p.Glu183Lys)
c.379G>A (p.Glu127Lys)
c.1435G>A (p.Glu479Lys)
17g.42543384G>CCA399602158NAGLUc.1378G>C (p.Glu460Gln)
c.716G>C (n.716G>C)
c.417G>C
c.547G>C (p.Glu183Gln)
c.379G>C (p.Glu127Gln)
c.1435G>C (p.Glu479Gln)
 dbSNP gnomAD v2 gnomAD v4
17g.42543384G=CA2260530244NAGLUc.1378G= (p.Glu460=)
c.716G= (n.716G=)
c.417G=
c.547G= (p.Glu183=)
c.379G= (p.Glu127=)
c.1435G= (p.Glu479=)
17g.42543384G>TCA399602155NAGLUc.1378G>T (p.Glu460Ter)
c.716G>T (n.716G>T)
c.417G>T
c.547G>T (p.Glu183Ter)
c.379G>T (p.Glu127Ter)
c.1435G>T (p.Glu479Ter)
 gnomAD v4
17g.42543385A>CCA399602160NAGLUc.1379A>C (p.Glu460Ala)
c.717A>C (n.717A>C)
c.418A>C
c.548A>C (p.Glu183Ala)
c.380A>C (p.Glu127Ala)
c.1436A>C (p.Glu479Ala)
17g.42543385A>GCA399602162NAGLUc.1379A>G (p.Glu460Gly)
c.717A>G (n.717A>G)
c.418A>G
c.548A>G (p.Glu183Gly)
c.380A>G (p.Glu127Gly)
c.1436A>G (p.Glu479Gly)
17g.42543385A>TCA399602165NAGLUc.1379A>T (p.Glu460Val)
c.717A>T (n.717A>T)
c.418A>T
c.548A>T (p.Glu183Val)
c.380A>T (p.Glu127Val)
c.1436A>T (p.Glu479Val)
17g.42543386G>ACA500216914NAGLUc.1380G>A (p.Glu460=)
c.718G>A (n.718G>A)
c.419G>A
c.549G>A (p.Glu183=)
c.381G>A (p.Glu127=)
c.1437G>A (p.Glu479=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42543386G>CCA399602167NAGLUc.1380G>C (p.Glu460Asp)
c.718G>C (n.718G>C)
c.419G>C
c.549G>C (p.Glu183Asp)
c.381G>C (p.Glu127Asp)
c.1437G>C (p.Glu479Asp)
17g.42543386G=CA2260530245NAGLUc.1380G= (p.Glu460=)
c.718G= (n.718G=)
c.419G=
c.549G= (p.Glu183=)
c.381G= (p.Glu127=)
c.1437G= (p.Glu479=)
17g.42543386G>TCA399602170NAGLUc.1380G>T (p.Glu460Asp)
c.718G>T (n.718G>T)
c.419G>T
c.549G>T (p.Glu183Asp)
c.381G>T (p.Glu127Asp)
c.1437G>T (p.Glu479Asp)
 gnomAD v4
17g.42543387C>ACA399602172NAGLUc.1381C>A (p.Leu461Met)
c.719C>A (n.719C>A)
c.420C>A
c.550C>A (p.Leu184Met)
c.382C>A (p.Leu128Met)
c.1438C>A (p.Leu480Met)
17g.42543387C>GCA399602175NAGLUc.1381C>G (p.Leu461Val)
c.719C>G (n.719C>G)
c.420C>G
c.550C>G (p.Leu184Val)
c.382C>G (p.Leu128Val)
c.1438C>G (p.Leu480Val)
17g.42543387C>TCA500216915NAGLUc.1381C>T (p.Leu461=)
c.719C>T (n.719C>T)
c.420C>T
c.550C>T (p.Leu184=)
c.382C>T (p.Leu128=)
c.1438C>T (p.Leu480=)
 gnomAD v4
17g.42543388T>ACA399602178NAGLUc.1382T>A (p.Leu461Gln)
c.720T>A (n.720T>A)
c.421T>A
c.551T>A (p.Leu184Gln)
c.383T>A (p.Leu128Gln)
c.1439T>A (p.Leu480Gln)
17g.42543388T>CCA399602180NAGLUc.1382T>C (p.Leu461Pro)
c.720T>C (n.720T>C)
c.421T>C
c.551T>C (p.Leu184Pro)
c.383T>C (p.Leu128Pro)
c.1439T>C (p.Leu480Pro)
17g.42543388T>GCA399602182NAGLUc.1382T>G (p.Leu461Arg)
c.720T>G (n.720T>G)
c.421T>G
c.551T>G (p.Leu184Arg)
c.383T>G (p.Leu128Arg)
c.1439T>G (p.Leu480Arg)
17g.42543389G>ACA500216917NAGLUc.1383G>A (p.Leu461=)
c.721G>A (n.721G>A)
c.422G>A
c.552G>A (p.Leu184=)
c.384G>A (p.Leu128=)
c.1440G>A (p.Leu480=)
 gnomAD v4
17g.42543389G>CCA500216916NAGLUc.1383G>C (p.Leu461=)
c.721G>C (n.721G>C)
c.422G>C
c.552G>C (p.Leu184=)
c.384G>C (p.Leu128=)
c.1440G>C (p.Leu480=)
17g.42543389G>TCA500216918NAGLUc.1383G>T (p.Leu461=)
c.721G>T (n.721G>T)
c.422G>T
c.552G>T (p.Leu184=)
c.384G>T (p.Leu128=)
c.1440G>T (p.Leu480=)
17g.42543390G>ACA399602186NAGLUc.1384G>A (p.Gly462Ser)
c.722G>A (n.722G>A)
c.423G>A
c.553G>A (p.Gly185Ser)
c.385G>A (p.Gly129Ser)
c.1441G>A (p.Gly481Ser)
17g.42543390G>CCA8577011NAGLUc.1384G>C (p.Gly462Arg)
c.722G>C (n.722G>C)
c.423G>C
c.553G>C (p.Gly185Arg)
c.385G>C (p.Gly129Arg)
c.1441G>C (p.Gly481Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42543390G=CA2260530246NAGLUc.1384G= (p.Gly462=)
c.722G= (n.722G=)
c.423G=
c.553G= (p.Gly185=)
c.385G= (p.Gly129=)
c.1441G= (p.Gly481=)
17g.42543390G>TCA399602195NAGLUc.1384G>T (p.Gly462Cys)
c.722G>T (n.722G>T)
c.423G>T
c.553G>T (p.Gly185Cys)
c.385G>T (p.Gly129Cys)
c.1441G>T (p.Gly481Cys)
 gnomAD v4
17g.42543391G>ACA399602202NAGLUc.1385G>A (p.Gly462Asp)
c.723G>A (n.723G>A)
c.424G>A
c.554G>A (p.Gly185Asp)
c.386G>A (p.Gly129Asp)
c.1442G>A (p.Gly481Asp)
 dbSNP gnomAD v2
17g.42543391G>CCA399602199NAGLUc.1385G>C (p.Gly462Ala)
c.723G>C (n.723G>C)
c.424G>C
c.554G>C (p.Gly185Ala)
c.386G>C (p.Gly129Ala)
c.1442G>C (p.Gly481Ala)
17g.42543391G=CA2260530247NAGLUc.1385G= (p.Gly462=)
c.723G= (n.723G=)
c.424G=
c.554G= (p.Gly185=)
c.386G= (p.Gly129=)
c.1442G= (p.Gly481=)
17g.42543391G>TCA399602200NAGLUc.1385G>T (p.Gly462Val)
c.723G>T (n.723G>T)
c.424G>T
c.554G>T (p.Gly185Val)
c.386G>T (p.Gly129Val)
c.1442G>T (p.Gly481Val)
 gnomAD v4
17g.42543392C>ACA500216919NAGLUc.1386C>A (p.Gly462=)
c.724C>A (n.724C>A)
c.425C>A
c.555C>A (p.Gly185=)
c.387C>A (p.Gly129=)
c.1443C>A (p.Gly481=)
17g.42543392C=CA2260530248NAGLUc.1386C= (p.Gly462=)
c.724C= (n.724C=)
c.425C=
c.555C= (p.Gly185=)
c.387C= (p.Gly129=)
c.1443C= (p.Gly481=)
17g.42543392C>GCA500216920NAGLUc.1386C>G (p.Gly462=)
c.724C>G (n.724C>G)
c.425C>G
c.555C>G (p.Gly185=)
c.387C>G (p.Gly129=)
c.1443C>G (p.Gly481=)
 ClinVar dbSNP
17g.42543392C>TCA500216921NAGLUc.1386C>T (p.Gly462=)
c.724C>T (n.724C>T)
c.425C>T
c.555C>T (p.Gly185=)
c.387C>T (p.Gly129=)
c.1443C>T (p.Gly481=)
 dbSNP gnomAD v2
17g.42543393T>ACA399602205NAGLUc.1387T>A (p.Trp463Arg)
c.725T>A (n.725T>A)
c.426T>A
c.556T>A (p.Trp186Arg)
c.388T>A (p.Trp130Arg)
c.1444T>A (p.Trp482Arg)
17g.42543393T>CCA290780451NAGLUc.1387T>C (p.Trp463Arg)
c.725T>C (n.725T>C)
c.426T>C
c.556T>C (p.Trp186Arg)
c.388T>C (p.Trp130Arg)
c.1444T>C (p.Trp482Arg)
 dbSNP gnomAD v2
17g.42543393T>GCA399602212NAGLUc.1387T>G (p.Trp463Gly)
c.725T>G (n.725T>G)
c.426T>G
c.556T>G (p.Trp186Gly)
c.388T>G (p.Trp130Gly)
c.1444T>G (p.Trp482Gly)
17g.42543393T=CA2260530249NAGLUc.1387T= (p.Trp463=)
c.725T= (n.725T=)
c.426T=
c.556T= (p.Trp186=)
c.388T= (p.Trp130=)
c.1444T= (p.Trp482=)
17g.42543394G>ACA399602216NAGLUc.1388G>A (p.Trp463Ter)
c.726G>A (n.726G>A)
c.427G>A
c.557G>A (p.Trp186Ter)
c.389G>A (p.Trp130Ter)
c.1445G>A (p.Trp482Ter)
17g.42543394G>CCA399602218NAGLUc.1388G>C (p.Trp463Ser)
c.726G>C (n.726G>C)
c.427G>C
c.557G>C (p.Trp186Ser)
c.389G>C (p.Trp130Ser)
c.1445G>C (p.Trp482Ser)
17g.42543394G>TCA399602220NAGLUc.1388G>T (p.Trp463Leu)
c.726G>T (n.726G>T)
c.427G>T
c.557G>T (p.Trp186Leu)
c.389G>T (p.Trp130Leu)
c.1445G>T (p.Trp482Leu)
 gnomAD v4
17g.42543395G>ACA399602226NAGLUc.1389G>A (p.Trp463Ter)
c.727G>A (n.727G>A)
c.428G>A
c.558G>A (p.Trp186Ter)
c.390G>A (p.Trp130Ter)
c.1446G>A (p.Trp482Ter)
 gnomAD v4
17g.42543395G>CCA399602227NAGLUc.1389G>C (p.Trp463Cys)
c.727G>C (n.727G>C)
c.428G>C
c.558G>C (p.Trp186Cys)
c.390G>C (p.Trp130Cys)
c.1446G>C (p.Trp482Cys)
 gnomAD v4
17g.42543395G>TCA399602230NAGLUc.1389G>T (p.Trp463Cys)
c.727G>T (n.727G>T)
c.428G>T
c.558G>T (p.Trp186Cys)
c.390G>T (p.Trp130Cys)
c.1446G>T (p.Trp482Cys)
 gnomAD v4
17g.42543396C>ACA500216922NAGLUc.1390C>A (p.Arg464=)
c.728C>A (n.728C>A)
c.429C>A
c.559C>A (p.Arg187=)
c.391C>A (p.Arg131=)
c.1447C>A (p.Arg483=)
 gnomAD v4
17g.42543396C=CA2260530250NAGLUc.1390C= (p.Arg464=)
c.728C= (n.728C=)
c.429C=
c.559C= (p.Arg187=)
c.391C= (p.Arg131=)
c.1447C= (p.Arg483=)
17g.42543396C>GCA399602233NAGLUc.1390C>G (p.Arg464Gly)
c.728C>G (n.728C>G)
c.429C>G
c.559C>G (p.Arg187Gly)
c.391C>G (p.Arg131Gly)
c.1447C>G (p.Arg483Gly)
17g.42543396C>TCA8577012NAGLUc.1390C>T (p.Arg464Ter)
c.728C>T (n.728C>T)
c.429C>T
c.559C>T (p.Arg187Ter)
c.391C>T (p.Arg131Ter)
c.1447C>T (p.Arg483Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543397G>ACA8577013NAGLUc.1391G>A (p.Arg464Gln)
c.729G>A (n.729G>A)
c.430G>A
c.560G>A (p.Arg187Gln)
c.392G>A (p.Arg131Gln)
c.1448G>A (p.Arg483Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543397G>CCA399602242NAGLUc.1391G>C (p.Arg464Pro)
c.729G>C (n.729G>C)
c.430G>C
c.560G>C (p.Arg187Pro)
c.392G>C (p.Arg131Pro)
c.1448G>C (p.Arg483Pro)
 ClinVar
17g.42543397G=CA2260530251NAGLUc.1391G= (p.Arg464=)
c.729G= (n.729G=)
c.430G=
c.560G= (p.Arg187=)
c.392G= (p.Arg131=)
c.1448G= (p.Arg483=)
17g.42543397G>TCA399602239NAGLUc.1391G>T (p.Arg464Leu)
c.729G>T (n.729G>T)
c.430G>T
c.560G>T (p.Arg187Leu)
c.392G>T (p.Arg131Leu)
c.1448G>T (p.Arg483Leu)
17g.42543398A>CCA500216923NAGLUc.1392A>C (p.Arg464=)
c.730A>C (n.730A>C)
c.431A>C
c.561A>C (p.Arg187=)
c.393A>C (p.Arg131=)
c.1449A>C (p.Arg483=)
17g.42543398A>GCA500216924NAGLUc.1392A>G (p.Arg464=)
c.730A>G (n.730A>G)
c.431A>G
c.561A>G (p.Arg187=)
c.393A>G (p.Arg131=)
c.1449A>G (p.Arg483=)
17g.42543398A>TCA500216925NAGLUc.1392A>T (p.Arg464=)
c.730A>T (n.730A>T)
c.431A>T
c.561A>T (p.Arg187=)
c.393A>T (p.Arg131=)
c.1449A>T (p.Arg483=)
17g.42543399A=CA2260530253NAGLUc.1393A= (p.Lys465=)
c.731A= (n.731A=)
c.432A=
c.562A= (p.Lys188=)
c.394A= (p.Lys132=)
c.1450A= (p.Lys484=)
17g.42543399A>CCA399602246NAGLUc.1393A>C (p.Lys465Gln)
c.731A>C (n.731A>C)
c.432A>C
c.562A>C (p.Lys188Gln)
c.394A>C (p.Lys132Gln)
c.1450A>C (p.Lys484Gln)
17g.42543399A>GCA290780459NAGLUc.1393A>G (p.Lys465Glu)
c.731A>G (n.731A>G)
c.432A>G
c.562A>G (p.Lys188Glu)
c.394A>G (p.Lys132Glu)
c.1450A>G (p.Lys484Glu)
 dbSNP
17g.42543399A>TCA399602249NAGLUc.1393A>T (p.Lys465Ter)
c.731A>T (n.731A>T)
c.432A>T
c.562A>T (p.Lys188Ter)
c.394A>T (p.Lys132Ter)
c.1450A>T (p.Lys484Ter)
17g.42543399_42543402delinsAAGGCA2260530252NAGLUc.1393_1396delinsAAGG (p.Lys465=)
c.731_734delinsAAGG (n.731_734delinsAAGG)
c.432_435delinsAAGG
c.562_565delinsAAGG (p.Lys188=)
c.394_397delinsAAGG (p.Lys132=)
c.1450_1453delinsAAGG (p.Lys484=)
17g.42543400_42543403delCA913012289NAGLUc.1394_1397del (p.Lys465ThrfsTer10)
c.732_735del (n.732_735del)
c.433_436del
c.563_566del (p.Lys188ThrfsTer10)
c.395_398del (p.Lys132ThrfsTer10)
c.1451_1454del (p.Lys484ThrfsTer10)
17g.42543400A>CCA399602255NAGLUc.1394A>C (p.Lys465Thr)
c.732A>C (n.732A>C)
c.433A>C
c.563A>C (p.Lys188Thr)
c.395A>C (p.Lys132Thr)
c.1451A>C (p.Lys484Thr)
17g.42543400A>GCA399602259NAGLUc.1394A>G (p.Lys465Arg)
c.732A>G (n.732A>G)
c.433A>G
c.563A>G (p.Lys188Arg)
c.395A>G (p.Lys132Arg)
c.1451A>G (p.Lys484Arg)
17g.42543400A>TCA399602262NAGLUc.1394A>T (p.Lys465Met)
c.732A>T (n.732A>T)
c.433A>T
c.563A>T (p.Lys188Met)
c.395A>T (p.Lys132Met)
c.1451A>T (p.Lys484Met)
17g.42543401_42543403delCA658823959NAGLUc.1395_1397del (p.Lys465_Asp466delinsAsn)
c.733_735del (n.733_735del)
c.434_436del
c.564_566del (p.Lys188_Asp189delinsAsn)
c.396_398del (p.Lys132_Asp133delinsAsn)
c.1452_1454del (p.Lys484_Asp485delinsAsn)
 ClinVar dbSNP
17g.42543401G>ACA8577014NAGLUc.1395G>A (p.Lys465=)
c.733G>A (n.733G>A)
c.434G>A
c.564G>A (p.Lys188=)
c.396G>A (p.Lys132=)
c.1452G>A (p.Lys484=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42543401G>CCA399602268NAGLUc.1395G>C (p.Lys465Asn)
c.733G>C (n.733G>C)
c.434G>C
c.564G>C (p.Lys188Asn)
c.396G>C (p.Lys132Asn)
c.1452G>C (p.Lys484Asn)
17g.42543401G=CA2260530254NAGLUc.1395G= (p.Lys465=)
c.733G= (n.733G=)
c.434G=
c.564G= (p.Lys188=)
c.396G= (p.Lys132=)
c.1452G= (p.Lys484=)
17g.42543401G>TCA399602270NAGLUc.1395G>T (p.Lys465Asn)
c.733G>T (n.733G>T)
c.434G>T
c.564G>T (p.Lys188Asn)
c.396G>T (p.Lys132Asn)
c.1452G>T (p.Lys484Asn)
 gnomAD v4
17g.42543402G>ACA399602274NAGLUc.1396G>A (p.Asp466Asn)
c.734G>A (n.734G>A)
c.435G>A
c.565G>A (p.Asp189Asn)
c.397G>A (p.Asp133Asn)
c.1453G>A (p.Asp485Asn)
 gnomAD v4
17g.42543402G>CCA399602276NAGLUc.1396G>C (p.Asp466His)
c.734G>C (n.734G>C)
c.435G>C
c.565G>C (p.Asp189His)
c.397G>C (p.Asp133His)
c.1453G>C (p.Asp485His)
17g.42543402G>TCA399602279NAGLUc.1396G>T (p.Asp466Tyr)
c.734G>T (n.734G>T)
c.435G>T
c.565G>T (p.Asp189Tyr)
c.397G>T (p.Asp133Tyr)
c.1453G>T (p.Asp485Tyr)
 gnomAD v4
17g.42543403A>CCA399602285NAGLUc.1397A>C (p.Asp466Ala)
c.735A>C (n.735A>C)
c.436A>C
c.566A>C (p.Asp189Ala)
c.398A>C (p.Asp133Ala)
c.1454A>C (p.Asp485Ala)
17g.42543403A>GCA399602287NAGLUc.1397A>G (p.Asp466Gly)
c.735A>G (n.735A>G)
c.436A>G
c.566A>G (p.Asp189Gly)
c.398A>G (p.Asp133Gly)
c.1454A>G (p.Asp485Gly)
 gnomAD v4
17g.42543403A>TCA399602290NAGLUc.1397A>T (p.Asp466Val)
c.735A>T (n.735A>T)
c.436A>T
c.566A>T (p.Asp189Val)
c.398A>T (p.Asp133Val)
c.1454A>T (p.Asp485Val)
17g.42543404C>ACA399602293NAGLUc.1398C>A (p.Asp466Glu)
c.736C>A (n.736C>A)
c.437C>A
c.567C>A (p.Asp189Glu)
c.399C>A (p.Asp133Glu)
c.1455C>A (p.Asp485Glu)
17g.42543404C=CA2260530255NAGLUc.1398C= (p.Asp466=)
c.736C= (n.736C=)
c.437C=
c.567C= (p.Asp189=)
c.399C= (p.Asp133=)
c.1455C= (p.Asp485=)
17g.42543404C>GCA399602295NAGLUc.1398C>G (p.Asp466Glu)
c.736C>G (n.736C>G)
c.437C>G
c.567C>G (p.Asp189Glu)
c.399C>G (p.Asp133Glu)
c.1455C>G (p.Asp485Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42543404C>TCA500216926NAGLUc.1398C>T (p.Asp466=)
c.736C>T (n.736C>T)
c.437C>T
c.567C>T (p.Asp189=)
c.399C>T (p.Asp133=)
c.1455C>T (p.Asp485=)
17g.42543405C>ACA399602298NAGLUc.1399C>A (p.Pro467Thr)
c.737C>A (n.737C>A)
c.438C>A
c.568C>A (p.Pro190Thr)
c.400C>A (p.Pro134Thr)
c.1456C>A (p.Pro486Thr)
 gnomAD v4
17g.42543405C>GCA399602300NAGLUc.1399C>G (p.Pro467Ala)
c.737C>G (n.737C>G)
c.438C>G
c.568C>G (p.Pro190Ala)
c.400C>G (p.Pro134Ala)
c.1456C>G (p.Pro486Ala)
17g.42543405C>TCA399602302NAGLUc.1399C>T (p.Pro467Ser)
c.737C>T (n.737C>T)
c.438C>T
c.568C>T (p.Pro190Ser)
c.400C>T (p.Pro134Ser)
c.1456C>T (p.Pro486Ser)
 gnomAD v4
17g.42543406C>ACA399602306NAGLUc.1400C>A (p.Pro467Gln)
c.738C>A (n.738C>A)
c.439C>A
c.569C>A (p.Pro190Gln)
c.401C>A (p.Pro134Gln)
c.1457C>A (p.Pro486Gln)
17g.42543406C>GCA399602309NAGLUc.1400C>G (p.Pro467Arg)
c.738C>G (n.738C>G)
c.439C>G
c.569C>G (p.Pro190Arg)
c.401C>G (p.Pro134Arg)
c.1457C>G (p.Pro486Arg)
17g.42543406C>TCA399602312NAGLUc.1400C>T (p.Pro467Leu)
c.738C>T (n.738C>T)
c.439C>T
c.569C>T (p.Pro190Leu)
c.401C>T (p.Pro134Leu)
c.1457C>T (p.Pro486Leu)
17g.42543407A=CA2260530256NAGLUc.1401A= (p.Pro467=)
c.739A= (n.739A=)
c.440A=
c.570A= (p.Pro190=)
c.402A= (p.Pro134=)
c.1458A= (p.Pro486=)
17g.42543407A>CCA500216927NAGLUc.1401A>C (p.Pro467=)
c.739A>C (n.739A>C)
c.440A>C
c.570A>C (p.Pro190=)
c.402A>C (p.Pro134=)
c.1458A>C (p.Pro486=)
17g.42543407A>GCA8577015NAGLUc.1401A>G (p.Pro467=)
c.739A>G (n.739A>G)
c.440A>G
c.570A>G (p.Pro190=)
c.402A>G (p.Pro134=)
c.1458A>G (p.Pro486=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42543407A>TCA500216928NAGLUc.1401A>T (p.Pro467=)
c.739A>T (n.739A>T)
c.440A>T
c.570A>T (p.Pro190=)
c.402A>T (p.Pro134=)
c.1458A>T (p.Pro486=)
17g.42543408G>ACA399602319NAGLUc.1402G>A (p.Val468Met)
c.740G>A (n.740G>A)
c.441G>A
c.571G>A (p.Val191Met)
c.403G>A (p.Val135Met)
c.1459G>A (p.Val487Met)
 gnomAD v4
17g.42543408G>CCA399602321NAGLUc.1402G>C (p.Val468Leu)
c.740G>C (n.740G>C)
c.441G>C
c.571G>C (p.Val191Leu)
c.403G>C (p.Val135Leu)
c.1459G>C (p.Val487Leu)
17g.42543408G>TCA399602325NAGLUc.1402G>T (p.Val468Leu)
c.740G>T (n.740G>T)
c.441G>T
c.571G>T (p.Val191Leu)
c.403G>T (p.Val135Leu)
c.1459G>T (p.Val487Leu)
 gnomAD v4
17g.42543408_42543409insGCCA2576276091NAGLUc.1402_1403insGC (p.Val468GlyfsTer9)
c.740_741insGC (n.740_741insGC)
c.441_442insGC
c.571_572insGC (p.Val191GlyfsTer9)
c.403_404insGC (p.Val135GlyfsTer9)
c.1459_1460insGC (p.Val487GlyfsTer9)
17g.42543409T>ACA399602334NAGLUc.1403T>A (p.Val468Glu)
c.741T>A (n.741T>A)
c.442T>A
c.572T>A (p.Val191Glu)
c.404T>A (p.Val135Glu)
c.1460T>A (p.Val487Glu)
17g.42543409T>CCA399602331NAGLUc.1403T>C (p.Val468Ala)
c.741T>C (n.741T>C)
c.442T>C
c.572T>C (p.Val191Ala)
c.404T>C (p.Val135Ala)
c.1460T>C (p.Val487Ala)
17g.42543409T>GCA399602329NAGLUc.1403T>G (p.Val468Gly)
c.741T>G (n.741T>G)
c.442T>G
c.572T>G (p.Val191Gly)
c.404T>G (p.Val135Gly)
c.1460T>G (p.Val487Gly)
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

Number of alleles fetched