Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.42544110T>ACA399606166NAGLUc.2104T>A (p.Phe702Ile)
c.1442T>A (n.1442T>A)
c.1273T>A (p.Phe425Ile)
c.1105T>A (p.Phe369Ile)
c.2161T>A (p.Phe721Ile)
17g.42544110T>CCA399606167NAGLUc.2104T>C (p.Phe702Leu)
c.1442T>C (n.1442T>C)
c.1273T>C (p.Phe425Leu)
c.1105T>C (p.Phe369Leu)
c.2161T>C (p.Phe721Leu)
17g.42544110T>GCA399606168NAGLUc.2104T>G (p.Phe702Val)
c.1442T>G (n.1442T>G)
c.1273T>G (p.Phe425Val)
c.1105T>G (p.Phe369Val)
c.2161T>G (p.Phe721Val)
17g.42544111T>ACA399606171NAGLUc.2105T>A (p.Phe702Tyr)
c.1443T>A (n.1443T>A)
c.1274T>A (p.Phe425Tyr)
c.1106T>A (p.Phe369Tyr)
c.2162T>A (p.Phe721Tyr)
17g.42544111T>CCA399606169NAGLUc.2105T>C (p.Phe702Ser)
c.1443T>C (n.1443T>C)
c.1274T>C (p.Phe425Ser)
c.1106T>C (p.Phe369Ser)
c.2162T>C (p.Phe721Ser)
17g.42544111T>GCA399606170NAGLUc.2105T>G (p.Phe702Cys)
c.1443T>G (n.1443T>G)
c.1274T>G (p.Phe425Cys)
c.1106T>G (p.Phe369Cys)
c.2162T>G (p.Phe721Cys)
17g.42544112C>ACA399606172NAGLUc.2106C>A (p.Phe702Leu)
c.1444C>A (n.1444C>A)
c.1275C>A (p.Phe425Leu)
c.1107C>A (p.Phe369Leu)
c.2163C>A (p.Phe721Leu)
17g.42544112C=CA2260530615NAGLUc.2106C= (p.Phe702=)
c.1444C= (n.1444C=)
c.1275C= (p.Phe425=)
c.1107C= (p.Phe369=)
c.2163C= (p.Phe721=)
17g.42544112C>GCA399606173NAGLUc.2106C>G (p.Phe702Leu)
c.1444C>G (n.1444C>G)
c.1275C>G (p.Phe425Leu)
c.1107C>G (p.Phe369Leu)
c.2163C>G (p.Phe721Leu)
17g.42544112C>TCA500217376NAGLUc.2106C>T (p.Phe702=)
c.1444C>T (n.1444C>T)
c.1275C>T (p.Phe425=)
c.1107C>T (p.Phe369=)
c.2163C>T (p.Phe721=)
 ClinVar dbSNP
17g.42544113C>ACA399606174NAGLUc.2107C>A (p.Gln703Lys)
c.1445C>A (n.1445C>A)
c.1276C>A (p.Gln426Lys)
c.1108C>A (p.Gln370Lys)
c.2164C>A (p.Gln722Lys)
17g.42544113C>GCA399606175NAGLUc.2107C>G (p.Gln703Glu)
c.1445C>G (n.1445C>G)
c.1276C>G (p.Gln426Glu)
c.1108C>G (p.Gln370Glu)
c.2164C>G (p.Gln722Glu)
17g.42544113C>TCA399606176NAGLUc.2107C>T (p.Gln703Ter)
c.1445C>T (n.1445C>T)
c.1276C>T (p.Gln426Ter)
c.1108C>T (p.Gln370Ter)
c.2164C>T (p.Gln722Ter)
17g.42544113_42544119delCA2637976285NAGLUc.2107_2113del (p.Gln703SerfsTer?)
c.1445_1451del (n.1445_1451del)
c.1276_1282del (p.Gln426SerfsTer?)
c.1108_1114del (p.Gln370SerfsTer?)
c.2164_2170del (p.Gln722SerfsTer?)
 gnomAD v4
17g.42544114A=CA2260530616NAGLUc.2108A= (p.Gln703=)
c.1446A= (n.1446A=)
c.1277A= (p.Gln426=)
c.1109A= (p.Gln370=)
c.2165A= (p.Gln722=)
17g.42544114A>CCA399606179NAGLUc.2108A>C (p.Gln703Pro)
c.1446A>C (n.1446A>C)
c.1277A>C (p.Gln426Pro)
c.1109A>C (p.Gln370Pro)
c.2165A>C (p.Gln722Pro)
17g.42544114A>GCA399606177NAGLUc.2108A>G (p.Gln703Arg)
c.1446A>G (n.1446A>G)
c.1277A>G (p.Gln426Arg)
c.1109A>G (p.Gln370Arg)
c.2165A>G (p.Gln722Arg)
 dbSNP gnomAD v3 gnomAD v4
17g.42544114A>TCA399606178NAGLUc.2108A>T (p.Gln703Leu)
c.1446A>T (n.1446A>T)
c.1277A>T (p.Gln426Leu)
c.1109A>T (p.Gln370Leu)
c.2165A>T (p.Gln722Leu)
17g.42544115A=CA2260530617NAGLUc.2109A= (p.Gln703=)
c.1447A= (n.1447A=)
c.1278A= (p.Gln426=)
c.1110A= (p.Gln370=)
c.2166A= (p.Gln722=)
17g.42544115A>CCA8577139NAGLUc.2109A>C (p.Gln703His)
c.1447A>C (n.1447A>C)
c.1278A>C (p.Gln426His)
c.1110A>C (p.Gln370His)
c.2166A>C (p.Gln722His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42544115A>GCA500217380NAGLUc.2109A>G (p.Gln703=)
c.1447A>G (n.1447A>G)
c.1278A>G (p.Gln426=)
c.1110A>G (p.Gln370=)
c.2166A>G (p.Gln722=)
17g.42544115A>TCA399606180NAGLUc.2109A>T (p.Gln703His)
c.1447A>T (n.1447A>T)
c.1278A>T (p.Gln426His)
c.1110A>T (p.Gln370His)
c.2166A>T (p.Gln722His)
 gnomAD v4
17g.42544116C>ACA399606181NAGLUc.2110C>A (p.Leu704Met)
c.1448C>A (n.1448C>A)
c.1279C>A (p.Leu427Met)
c.1111C>A (p.Leu371Met)
c.2167C>A (p.Leu723Met)
17g.42544116C>GCA399606182NAGLUc.2110C>G (p.Leu704Val)
c.1448C>G (n.1448C>G)
c.1279C>G (p.Leu427Val)
c.1111C>G (p.Leu371Val)
c.2167C>G (p.Leu723Val)
17g.42544116C>TCA500217383NAGLUc.2110C>T (p.Leu704=)
c.1448C>T (n.1448C>T)
c.1279C>T (p.Leu427=)
c.1111C>T (p.Leu371=)
c.2167C>T (p.Leu723=)
17g.42544117T>ACA399606183NAGLUc.2111T>A (p.Leu704Gln)
c.1449T>A (n.1449T>A)
c.1280T>A (p.Leu427Gln)
c.1112T>A (p.Leu371Gln)
c.2168T>A (p.Leu723Gln)
17g.42544117T>CCA399606184NAGLUc.2111T>C (p.Leu704Pro)
c.1449T>C (n.1449T>C)
c.1280T>C (p.Leu427Pro)
c.1112T>C (p.Leu371Pro)
c.2168T>C (p.Leu723Pro)
17g.42544117T>GCA399606185NAGLUc.2111T>G (p.Leu704Arg)
c.1449T>G (n.1449T>G)
c.1280T>G (p.Leu427Arg)
c.1112T>G (p.Leu371Arg)
c.2168T>G (p.Leu723Arg)
17g.42544118G>ACA500217392NAGLUc.2112G>A (p.Leu704=)
c.1450G>A (n.1450G>A)
c.1281G>A (p.Leu427=)
c.1113G>A (p.Leu371=)
c.2169G>A (p.Leu723=)
 gnomAD v4
17g.42544118G>CCA500217391NAGLUc.2112G>C (p.Leu704=)
c.1450G>C (n.1450G>C)
c.1281G>C (p.Leu427=)
c.1113G>C (p.Leu371=)
c.2169G>C (p.Leu723=)
17g.42544118G>TCA500217393NAGLUc.2112G>T (p.Leu704=)
c.1450G>T (n.1450G>T)
c.1281G>T (p.Leu427=)
c.1113G>T (p.Leu371=)
c.2169G>T (p.Leu723=)
17g.42544119G>ACA399606186NAGLUc.2113G>A (p.Glu705Lys)
c.1451G>A (n.1451G>A)
c.1282G>A (p.Glu428Lys)
c.1114G>A (p.Glu372Lys)
c.2170G>A (p.Glu724Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42544119G>CCA399606187NAGLUc.2113G>C (p.Glu705Gln)
c.1451G>C (n.1451G>C)
c.1282G>C (p.Glu428Gln)
c.1114G>C (p.Glu372Gln)
c.2170G>C (p.Glu724Gln)
17g.42544119G=CA2260530618NAGLUc.2113G= (p.Glu705=)
c.1451G= (n.1451G=)
c.1282G= (p.Glu428=)
c.1114G= (p.Glu372=)
c.2170G= (p.Glu724=)
17g.42544119G>TCA399606188NAGLUc.2113G>T (p.Glu705Ter)
c.1451G>T (n.1451G>T)
c.1282G>T (p.Glu428Ter)
c.1114G>T (p.Glu372Ter)
c.2170G>T (p.Glu724Ter)
17g.42544120A=CA2260530619NAGLUc.2114A= (p.Glu705=)
c.1452A= (n.1452A=)
c.1283A= (p.Glu428=)
c.1115A= (p.Glu372=)
c.2171A= (p.Glu724=)
17g.42544120A>CCA399606189NAGLUc.2114A>C (p.Glu705Ala)
c.1452A>C (n.1452A>C)
c.1283A>C (p.Glu428Ala)
c.1115A>C (p.Glu372Ala)
c.2171A>C (p.Glu724Ala)
17g.42544120A>GCA399606190NAGLUc.2114A>G (p.Glu705Gly)
c.1452A>G (n.1452A>G)
c.1283A>G (p.Glu428Gly)
c.1115A>G (p.Glu372Gly)
c.2171A>G (p.Glu724Gly)
17g.42544120A>TCA399606191NAGLUc.2114A>T (p.Glu705Val)
c.1452A>T (n.1452A>T)
c.1283A>T (p.Glu428Val)
c.1115A>T (p.Glu372Val)
c.2171A>T (p.Glu724Val)
17g.42544120_42544121insAGAGTACTGGGATTATAGGTGTGGCA8577140NAGLUc.2114_2115insAGAGTACTGGGATTATAGGTGTGG (p.Glu705_Gln706insGluTyrTrpAspTyrArgCysGly)
c.1452_1453insAGAGTACTGGGATTATAGGTGTGG (n.1452_1453insAGAGTACTGGGATTATAGGTGTGG)
c.1283_1284insAGAGTACTGGGATTATAGGTGTGG (p.Glu428_Gln429insGluTyrTrpAspTyrArgCysGly)
c.1115_1116insAGAGTACTGGGATTATAGGTGTGG (p.Glu372_Gln373insGluTyrTrpAspTyrArgCysGly)
c.2171_2172insAGAGTACTGGGATTATAGGTGTGG (p.Glu724_Gln725insGluTyrTrpAspTyrArgCysGly)
 dbSNP ExAC
17g.42544121G>ACA8577141NAGLUc.2115G>A (p.Glu705=)
c.1453G>A (n.1453G>A)
c.1284G>A (p.Glu428=)
c.1116G>A (p.Glu372=)
c.2172G>A (p.Glu724=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42544121G>CCA399606193NAGLUc.2115G>C (p.Glu705Asp)
c.1453G>C (n.1453G>C)
c.1284G>C (p.Glu428Asp)
c.1116G>C (p.Glu372Asp)
c.2172G>C (p.Glu724Asp)
17g.42544121G=CA2260530620NAGLUc.2115G= (p.Glu705=)
c.1453G= (n.1453G=)
c.1284G= (p.Glu428=)
c.1116G= (p.Glu372=)
c.2172G= (p.Glu724=)
17g.42544121G>TCA399606192NAGLUc.2115G>T (p.Glu705Asp)
c.1453G>T (n.1453G>T)
c.1284G>T (p.Glu428Asp)
c.1116G>T (p.Glu372Asp)
c.2172G>T (p.Glu724Asp)
17g.42544122C>ACA399606194NAGLUc.2116C>A (p.Gln706Lys)
c.1454C>A (n.1454C>A)
c.1285C>A (p.Gln429Lys)
c.1117C>A (p.Gln373Lys)
c.2173C>A (p.Gln725Lys)
17g.42544122C=CA2260530621NAGLUc.2116C= (p.Gln706=)
c.1454C= (n.1454C=)
c.1285C= (p.Gln429=)
c.1117C= (p.Gln373=)
c.2173C= (p.Gln725=)
17g.42544122C>GCA8577143NAGLUc.2116C>G (p.Gln706Glu)
c.1454C>G (n.1454C>G)
c.1285C>G (p.Gln429Glu)
c.1117C>G (p.Gln373Glu)
c.2173C>G (p.Gln725Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42544122C>TCA399606195NAGLUc.2116C>T (p.Gln706Ter)
c.1454C>T (n.1454C>T)
c.1285C>T (p.Gln429Ter)
c.1117C>T (p.Gln373Ter)
c.2173C>T (p.Gln725Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42544122_42544123insCACCACGCCCATTCAGAAACCTCCATGTTTTACA8577142NAGLUc.2116_2117insCACCACGCCCATTCAGAAACCTCCATGTTTTA (p.Gln706ProfsTer?)
c.1454_1455insCACCACGCCCATTCAGAAACCTCCATGTTTTA (n.1454_1455insCACCACGCCCATTCAGAAACCTCCATGTTTTA)
c.1285_1286insCACCACGCCCATTCAGAAACCTCCATGTTTTA (p.Gln429ProfsTer?)
c.1117_1118insCACCACGCCCATTCAGAAACCTCCATGTTTTA (p.Gln373ProfsTer?)
c.2173_2174insCACCACGCCCATTCAGAAACCTCCATGTTTTA (p.Gln725ProfsTer?)
 dbSNP ExAC
17g.42544123A>CCA399606196NAGLUc.2117A>C (p.Gln706Pro)
c.1455A>C (n.1455A>C)
c.1286A>C (p.Gln429Pro)
c.1118A>C (p.Gln373Pro)
c.2174A>C (p.Gln725Pro)
17g.42544123A>GCA399606197NAGLUc.2117A>G (p.Gln706Arg)
c.1455A>G (n.1455A>G)
c.1286A>G (p.Gln429Arg)
c.1118A>G (p.Gln373Arg)
c.2174A>G (p.Gln725Arg)
 gnomAD v4
17g.42544123A>TCA399606198NAGLUc.2117A>T (p.Gln706Leu)
c.1455A>T (n.1455A>T)
c.1286A>T (p.Gln429Leu)
c.1118A>T (p.Gln373Leu)
c.2174A>T (p.Gln725Leu)
17g.42544124G>ACA500217441NAGLUc.2118G>A (p.Gln706=)
c.1456G>A (n.1456G>A)
c.1287G>A (p.Gln429=)
c.1119G>A (p.Gln373=)
c.2175G>A (p.Gln725=)
17g.42544124G>CCA399606199NAGLUc.2118G>C (p.Gln706His)
c.1456G>C (n.1456G>C)
c.1287G>C (p.Gln429His)
c.1119G>C (p.Gln373His)
c.2175G>C (p.Gln725His)
17g.42544124G>TCA399606200NAGLUc.2118G>T (p.Gln706His)
c.1456G>T (n.1456G>T)
c.1287G>T (p.Gln429His)
c.1119G>T (p.Gln373His)
c.2175G>T (p.Gln725His)
17g.42544125G>ACA399606201NAGLUc.2119G>A (p.Ala707Thr)
c.1457G>A (n.1457G>A)
c.1288G>A (p.Ala430Thr)
c.1120G>A (p.Ala374Thr)
c.2176G>A (p.Ala726Thr)
 dbSNP gnomAD v3 gnomAD v4
17g.42544125G>CCA399606202NAGLUc.2119G>C (p.Ala707Pro)
c.1457G>C (n.1457G>C)
c.1288G>C (p.Ala430Pro)
c.1120G>C (p.Ala374Pro)
c.2176G>C (p.Ala726Pro)
17g.42544125G=CA2260530622NAGLUc.2119G= (p.Ala707=)
c.1457G= (n.1457G=)
c.1288G= (p.Ala430=)
c.1120G= (p.Ala374=)
c.2176G= (p.Ala726=)
17g.42544125G>TCA399606203NAGLUc.2119G>T (p.Ala707Ser)
c.1457G>T (n.1457G>T)
c.1288G>T (p.Ala430Ser)
c.1120G>T (p.Ala374Ser)
c.2176G>T (p.Ala726Ser)
17g.42544125_42544126insAGCCA8577144NAGLUc.2119_2120insAGC (p.Ala707delinsGluPro)
c.1457_1458insAGC (n.1457_1458insAGC)
c.1288_1289insAGC (p.Ala430delinsGluPro)
c.1120_1121insAGC (p.Ala374delinsGluPro)
c.2176_2177insAGC (p.Ala726delinsGluPro)
 dbSNP ExAC
17g.42544126C>ACA399606206NAGLUc.2120C>A (p.Ala707Asp)
c.1458C>A (n.1458C>A)
c.1289C>A (p.Ala430Asp)
c.1121C>A (p.Ala374Asp)
c.2177C>A (p.Ala726Asp)
17g.42544126C>GCA399606205NAGLUc.2120C>G (p.Ala707Gly)
c.1458C>G (n.1458C>G)
c.1289C>G (p.Ala430Gly)
c.1121C>G (p.Ala374Gly)
c.2177C>G (p.Ala726Gly)
17g.42544126C>TCA399606204NAGLUc.2120C>T (p.Ala707Val)
c.1458C>T (n.1458C>T)
c.1289C>T (p.Ala430Val)
c.1121C>T (p.Ala374Val)
c.2177C>T (p.Ala726Val)
17g.42544127C>ACA500217470NAGLUc.2121C>A (p.Ala707=)
c.1459C>A (n.1459C>A)
c.1290C>A (p.Ala430=)
c.1122C>A (p.Ala374=)
c.2178C>A (p.Ala726=)
17g.42544127C>GCA500217465NAGLUc.2121C>G (p.Ala707=)
c.1459C>G (n.1459C>G)
c.1290C>G (p.Ala430=)
c.1122C>G (p.Ala374=)
c.2178C>G (p.Ala726=)
17g.42544127C>TCA500217467NAGLUc.2121C>T (p.Ala707=)
c.1459C>T (n.1459C>T)
c.1290C>T (p.Ala430=)
c.1122C>T (p.Ala374=)
c.2178C>T (p.Ala726=)
17g.42544128T>ACA399606207NAGLUc.2122T>A (p.Phe708Ile)
c.1460T>A (n.1460T>A)
c.1291T>A (p.Phe431Ile)
c.1123T>A (p.Phe375Ile)
c.2179T>A (p.Phe727Ile)
17g.42544128T>CCA399606208NAGLUc.2122T>C (p.Phe708Leu)
c.1460T>C (n.1460T>C)
c.1291T>C (p.Phe431Leu)
c.1123T>C (p.Phe375Leu)
c.2179T>C (p.Phe727Leu)
17g.42544128T>GCA399606209NAGLUc.2122T>G (p.Phe708Val)
c.1460T>G (n.1460T>G)
c.1291T>G (p.Phe431Val)
c.1123T>G (p.Phe375Val)
c.2179T>G (p.Phe727Val)
17g.42544129T>ACA399606210NAGLUc.2123T>A (p.Phe708Tyr)
c.1461T>A (n.1461T>A)
c.1292T>A (p.Phe431Tyr)
c.1124T>A (p.Phe375Tyr)
c.2180T>A (p.Phe727Tyr)
17g.42544129T>CCA399606211NAGLUc.2123T>C (p.Phe708Ser)
c.1461T>C (n.1461T>C)
c.1292T>C (p.Phe431Ser)
c.1124T>C (p.Phe375Ser)
c.2180T>C (p.Phe727Ser)
17g.42544129T>GCA399606212NAGLUc.2123T>G (p.Phe708Cys)
c.1461T>G (n.1461T>G)
c.1292T>G (p.Phe431Cys)
c.1124T>G (p.Phe375Cys)
c.2180T>G (p.Phe727Cys)
17g.42544129_42544211delCA2582342170NAGLUc.2123_2205del (p.Phe708SerfsTer21)
c.1292_1374del (p.Phe431SerfsTer21)
c.1124_1206del (p.Phe375SerfsTer21)
c.2180_2262del (p.Phe727SerfsTer21)
 ClinVar
17g.42544130C>ACA399606213NAGLUc.2124C>A (p.Phe708Leu)
c.1462C>A (n.1462C>A)
c.1293C>A (p.Phe431Leu)
c.1125C>A (p.Phe375Leu)
c.2181C>A (p.Phe727Leu)
17g.42544130C=CA2260530623NAGLUc.2124C= (p.Phe708=)
c.1462C= (n.1462C=)
c.1293C= (p.Phe431=)
c.1125C= (p.Phe375=)
c.2181C= (p.Phe727=)
17g.42544130C>GCA399606214NAGLUc.2124C>G (p.Phe708Leu)
c.1462C>G (n.1462C>G)
c.1293C>G (p.Phe431Leu)
c.1125C>G (p.Phe375Leu)
c.2181C>G (p.Phe727Leu)
 ClinVar dbSNP
17g.42544130C>TCA8577145NAGLUc.2124C>T (p.Phe708=)
c.1462C>T (n.1462C>T)
c.1293C>T (p.Phe431=)
c.1125C>T (p.Phe375=)
c.2181C>T (p.Phe727=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42544131G>ACA8577146NAGLUc.2125G>A (p.Val709Ile)
c.1463G>A (n.1463G>A)
c.1294G>A (p.Val432Ile)
c.1126G>A (p.Val376Ile)
c.2182G>A (p.Val728Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.42544131G>CCA399606216NAGLUc.2125G>C (p.Val709Leu)
c.1463G>C (n.1463G>C)
c.1294G>C (p.Val432Leu)
c.1126G>C (p.Val376Leu)
c.2182G>C (p.Val728Leu)
 dbSNP gnomAD v2 gnomAD v4
17g.42544131G=CA2260530624NAGLUc.2125G= (p.Val709=)
c.1463G= (n.1463G=)
c.1294G= (p.Val432=)
c.1126G= (p.Val376=)
c.2182G= (p.Val728=)
17g.42544131G>TCA399606215NAGLUc.2125G>T (p.Val709Phe)
c.1463G>T (n.1463G>T)
c.1294G>T (p.Val432Phe)
c.1126G>T (p.Val376Phe)
c.2182G>T (p.Val728Phe)
17g.42544132T>ACA399606217NAGLUc.2126T>A (p.Val709Asp)
c.1464T>A (n.1464T>A)
c.1295T>A (p.Val432Asp)
c.1127T>A (p.Val376Asp)
c.2183T>A (p.Val728Asp)
17g.42544132T>CCA399606219NAGLUc.2126T>C (p.Val709Ala)
c.1464T>C (n.1464T>C)
c.1295T>C (p.Val432Ala)
c.1127T>C (p.Val376Ala)
c.2183T>C (p.Val728Ala)
 dbSNP gnomAD v3 gnomAD v4
17g.42544132T>GCA399606218NAGLUc.2126T>G (p.Val709Gly)
c.1464T>G (n.1464T>G)
c.1295T>G (p.Val432Gly)
c.1127T>G (p.Val376Gly)
c.2183T>G (p.Val728Gly)
17g.42544132T=CA2260530625NAGLUc.2126T= (p.Val709=)
c.1464T= (n.1464T=)
c.1295T= (p.Val432=)
c.1127T= (p.Val376=)
c.2183T= (p.Val728=)
17g.42544133T>ACA500217526NAGLUc.2127T>A (p.Val709=)
c.1465T>A (n.1465T>A)
c.1296T>A (p.Val432=)
c.1128T>A (p.Val376=)
c.2184T>A (p.Val728=)
17g.42544133T>CCA500217525NAGLUc.2127T>C (p.Val709=)
c.1465T>C (n.1465T>C)
c.1296T>C (p.Val432=)
c.1128T>C (p.Val376=)
c.2184T>C (p.Val728=)
17g.42544133T>GCA500217529NAGLUc.2127T>G (p.Val709=)
c.1465T>G (n.1465T>G)
c.1296T>G (p.Val432=)
c.1128T>G (p.Val376=)
c.2184T>G (p.Val728=)
17g.42544134C>ACA399606220NAGLUc.2128C>A (p.Leu710Ile)
c.1466C>A (n.1466C>A)
c.1297C>A (p.Leu433Ile)
c.1129C>A (p.Leu377Ile)
c.2185C>A (p.Leu729Ile)
17g.42544134C=CA2260530626NAGLUc.2128C= (p.Leu710=)
c.1466C= (n.1466C=)
c.1297C= (p.Leu433=)
c.1129C= (p.Leu377=)
c.2185C= (p.Leu729=)
17g.42544134C>GCA8577147NAGLUc.2128C>G (p.Leu710Val)
c.1466C>G (n.1466C>G)
c.1297C>G (p.Leu433Val)
c.1129C>G (p.Leu377Val)
c.2185C>G (p.Leu729Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42544134C>TCA399606221NAGLUc.2128C>T (p.Leu710Phe)
c.1466C>T (n.1466C>T)
c.1297C>T (p.Leu433Phe)
c.1129C>T (p.Leu377Phe)
c.2185C>T (p.Leu729Phe)
 dbSNP gnomAD v2 COSMIC
17g.42544135T>ACA399606222NAGLUc.2129T>A (p.Leu710His)
c.1467T>A (n.1467T>A)
c.1298T>A (p.Leu433His)
c.1130T>A (p.Leu377His)
c.2186T>A (p.Leu729His)
17g.42544135T>CCA399606224NAGLUc.2129T>C (p.Leu710Pro)
c.1467T>C (n.1467T>C)
c.1298T>C (p.Leu433Pro)
c.1130T>C (p.Leu377Pro)
c.2186T>C (p.Leu729Pro)
17g.42544135T>GCA399606223NAGLUc.2129T>G (p.Leu710Arg)
c.1467T>G (n.1467T>G)
c.1298T>G (p.Leu433Arg)
c.1130T>G (p.Leu377Arg)
c.2186T>G (p.Leu729Arg)
17g.42544136C>ACA500217547NAGLUc.2130C>A (p.Leu710=)
c.1468C>A (n.1468C>A)
c.1299C>A (p.Leu433=)
c.1131C>A (p.Leu377=)
c.2187C>A (p.Leu729=)
17g.42544136C>GCA500217554NAGLUc.2130C>G (p.Leu710=)
c.1468C>G (n.1468C>G)
c.1299C>G (p.Leu433=)
c.1131C>G (p.Leu377=)
c.2187C>G (p.Leu729=)
17g.42544136C>TCA500217550NAGLUc.2130C>T (p.Leu710=)
c.1468C>T (n.1468C>T)
c.1299C>T (p.Leu433=)
c.1131C>T (p.Leu377=)
c.2187C>T (p.Leu729=)
 gnomAD v3 gnomAD v4
17g.42544137A=CA2260530627NAGLUc.2131A= (p.Ser711=)
c.1469A= (n.1469A=)
c.1300A= (p.Ser434=)
c.1132A= (p.Ser378=)
c.2188A= (p.Ser730=)
17g.42544137A>CCA399606225NAGLUc.2131A>C (p.Ser711Arg)
c.1469A>C (n.1469A>C)
c.1300A>C (p.Ser434Arg)
c.1132A>C (p.Ser378Arg)
c.2188A>C (p.Ser730Arg)
17g.42544137A>GCA399606226NAGLUc.2131A>G (p.Ser711Gly)
c.1469A>G (n.1469A>G)
c.1300A>G (p.Ser434Gly)
c.1132A>G (p.Ser378Gly)
c.2188A>G (p.Ser730Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42544137A>TCA399606227NAGLUc.2131A>T (p.Ser711Cys)
c.1469A>T (n.1469A>T)
c.1300A>T (p.Ser434Cys)
c.1132A>T (p.Ser378Cys)
c.2188A>T (p.Ser730Cys)
 dbSNP
17g.42544138G>ACA399606228NAGLUc.2132G>A (p.Ser711Asn)
c.1470G>A (n.1470G>A)
c.1301G>A (p.Ser434Asn)
c.1133G>A (p.Ser378Asn)
c.2189G>A (p.Ser730Asn)
 ClinVar dbSNP gnomAD v4
17g.42544138G>CCA399606229NAGLUc.2132G>C (p.Ser711Thr)
c.1470G>C (n.1470G>C)
c.1301G>C (p.Ser434Thr)
c.1133G>C (p.Ser378Thr)
c.2189G>C (p.Ser730Thr)
17g.42544138G=CA2260530628NAGLUc.2132G= (p.Ser711=)
c.1470G= (n.1470G=)
c.1301G= (p.Ser434=)
c.1133G= (p.Ser378=)
c.2189G= (p.Ser730=)
17g.42544138G>TCA399606230NAGLUc.2132G>T (p.Ser711Ile)
c.1470G>T (n.1470G>T)
c.1301G>T (p.Ser434Ile)
c.1133G>T (p.Ser378Ile)
c.2189G>T (p.Ser730Ile)
17g.42544139C>ACA399606231NAGLUc.2133C>A (p.Ser711Arg)
c.1471C>A (n.1471C>A)
c.1302C>A (p.Ser434Arg)
c.1134C>A (p.Ser378Arg)
c.2190C>A (p.Ser730Arg)
17g.42544139C>GCA399606232NAGLUc.2133C>G (p.Ser711Arg)
c.1471C>G (n.1471C>G)
c.1302C>G (p.Ser434Arg)
c.1134C>G (p.Ser378Arg)
c.2190C>G (p.Ser730Arg)
17g.42544139C>TCA500217579NAGLUc.2133C>T (p.Ser711=)
c.1471C>T (n.1471C>T)
c.1302C>T (p.Ser434=)
c.1134C>T (p.Ser378=)
c.2190C>T (p.Ser730=)
17g.42544140A>CCA399606233NAGLUc.2134A>C (p.Lys712Gln)
c.1472A>C (n.1472A>C)
c.1303A>C (p.Lys435Gln)
c.1135A>C (p.Lys379Gln)
c.2191A>C (p.Lys731Gln)
17g.42544140A>GCA399606234NAGLUc.2134A>G (p.Lys712Glu)
c.1472A>G (n.1472A>G)
c.1303A>G (p.Lys435Glu)
c.1135A>G (p.Lys379Glu)
c.2191A>G (p.Lys731Glu)
17g.42544140A>TCA399606235NAGLUc.2134A>T (p.Lys712Ter)
c.1472A>T (n.1472A>T)
c.1303A>T (p.Lys435Ter)
c.1135A>T (p.Lys379Ter)
c.2191A>T (p.Lys731Ter)
17g.42544141A=CA2260530629NAGLUc.2135A= (p.Lys712=)
c.1473A= (n.1473A=)
c.1304A= (p.Lys435=)
c.1136A= (p.Lys379=)
c.2192A= (p.Lys731=)
17g.42544141A>CCA399606238NAGLUc.2135A>C (p.Lys712Thr)
c.1473A>C (n.1473A>C)
c.1304A>C (p.Lys435Thr)
c.1136A>C (p.Lys379Thr)
c.2192A>C (p.Lys731Thr)
17g.42544141A>GCA399606236NAGLUc.2135A>G (p.Lys712Arg)
c.1473A>G (n.1473A>G)
c.1304A>G (p.Lys435Arg)
c.1136A>G (p.Lys379Arg)
c.2192A>G (p.Lys731Arg)
 dbSNP
17g.42544141A>TCA399606237NAGLUc.2135A>T (p.Lys712Met)
c.1473A>T (n.1473A>T)
c.1304A>T (p.Lys435Met)
c.1136A>T (p.Lys379Met)
c.2192A>T (p.Lys731Met)
17g.42544144_42544161dupCA2637976287NAGLUc.2138_2155dup (p.Gln718_Pro719insGlnArgTyrProSerGln)
c.1307_1324dup (p.Gln441_Pro442insGlnArgTyrProSerGln)
c.1139_1156dup (p.Gln385_Pro386insGlnArgTyrProSerGln)
c.2195_2212dup (p.Gln737_Pro738insGlnArgTyrProSerGln)
 gnomAD v4
17g.42544142G>ACA500217600NAGLUc.2136G>A (p.Lys712=)
c.1474G>A (n.1474G>A)
c.1305G>A (p.Lys435=)
c.1137G>A (p.Lys379=)
c.2193G>A (p.Lys731=)
17g.42544142G>CCA399606239NAGLUc.2136G>C (p.Lys712Asn)
c.1474G>C (n.1474G>C)
c.1305G>C (p.Lys435Asn)
c.1137G>C (p.Lys379Asn)
c.2193G>C (p.Lys731Asn)
 gnomAD v4
17g.42544142G>TCA399606240NAGLUc.2136G>T (p.Lys712Asn)
c.1474G>T (n.1474G>T)
c.1305G>T (p.Lys435Asn)
c.1137G>T (p.Lys379Asn)
c.2193G>T (p.Lys731Asn)
17g.42544143C>ACA399606241NAGLUc.2137C>A (p.Gln713Lys)
c.1475C>A (n.1475C>A)
c.1306C>A (p.Gln436Lys)
c.1138C>A (p.Gln380Lys)
c.2194C>A (p.Gln732Lys)
17g.42544143C>GCA399606242NAGLUc.2137C>G (p.Gln713Glu)
c.1475C>G (n.1475C>G)
c.1306C>G (p.Gln436Glu)
c.1138C>G (p.Gln380Glu)
c.2194C>G (p.Gln732Glu)
17g.42544143C>TCA399606243NAGLUc.2137C>T (p.Gln713Ter)
c.1475C>T (n.1475C>T)
c.1306C>T (p.Gln436Ter)
c.1138C>T (p.Gln380Ter)
c.2194C>T (p.Gln732Ter)
 COSMIC
17g.42544143dupCA2576276095NAGLUc.2137dup (p.Gln713ProfsTer?)
c.1475dup (n.1475dup)
c.1306dup (p.Gln436ProfsTer?)
c.1138dup (p.Gln380ProfsTer?)
c.2194dup (p.Gln732ProfsTer?)
 ClinVar
17g.42544144A>CCA399606244NAGLUc.2138A>C (p.Gln713Pro)
c.1476A>C (n.1476A>C)
c.1307A>C (p.Gln436Pro)
c.1139A>C (p.Gln380Pro)
c.2195A>C (p.Gln732Pro)
17g.42544144A>GCA399606245NAGLUc.2138A>G (p.Gln713Arg)
c.1476A>G (n.1476A>G)
c.1307A>G (p.Gln436Arg)
c.1139A>G (p.Gln380Arg)
c.2195A>G (p.Gln732Arg)
 gnomAD v4
17g.42544144A>TCA399606246NAGLUc.2138A>T (p.Gln713Leu)
c.1476A>T (n.1476A>T)
c.1307A>T (p.Gln436Leu)
c.1139A>T (p.Gln380Leu)
c.2195A>T (p.Gln732Leu)
17g.42544145G>ACA500217626NAGLUc.2139G>A (p.Gln713=)
c.1477G>A (n.1477G>A)
c.1308G>A (p.Gln436=)
c.1140G>A (p.Gln380=)
c.2196G>A (p.Gln732=)
17g.42544145G>CCA399606247NAGLUc.2139G>C (p.Gln713His)
c.1477G>C (n.1477G>C)
c.1308G>C (p.Gln436His)
c.1140G>C (p.Gln380His)
c.2196G>C (p.Gln732His)
 ClinVar
17g.42544145G>TCA399606248NAGLUc.2139G>T (p.Gln713His)
c.1477G>T (n.1477G>T)
c.1308G>T (p.Gln436His)
c.1140G>T (p.Gln380His)
c.2196G>T (p.Gln732His)
17g.42544146A=CA2260530630NAGLUc.2140A= (p.Arg714=)
c.1478A= (n.1478A=)
c.1309A= (p.Arg437=)
c.1141A= (p.Arg381=)
c.2197A= (p.Arg733=)
17g.42544146A>CCA500217632NAGLUc.2140A>C (p.Arg714=)
c.1478A>C (n.1478A>C)
c.1309A>C (p.Arg437=)
c.1141A>C (p.Arg381=)
c.2197A>C (p.Arg733=)
17g.42544146A>GCA399606250NAGLUc.2140A>G (p.Arg714Gly)
c.1478A>G (n.1478A>G)
c.1309A>G (p.Arg437Gly)
c.1141A>G (p.Arg381Gly)
c.2197A>G (p.Arg733Gly)
 dbSNP gnomAD v3 gnomAD v4
17g.42544146A>TCA399606249NAGLUc.2140A>T (p.Arg714Trp)
c.1478A>T (n.1478A>T)
c.1309A>T (p.Arg437Trp)
c.1141A>T (p.Arg381Trp)
c.2197A>T (p.Arg733Trp)
17g.42544147G>ACA399606251NAGLUc.2141G>A (p.Arg714Lys)
c.1479G>A (n.1479G>A)
c.1310G>A (p.Arg437Lys)
c.1142G>A (p.Arg381Lys)
c.2198G>A (p.Arg733Lys)
 dbSNP
17g.42544147G>CCA399606252NAGLUc.2141G>C (p.Arg714Thr)
c.1479G>C (n.1479G>C)
c.1310G>C (p.Arg437Thr)
c.1142G>C (p.Arg381Thr)
c.2198G>C (p.Arg733Thr)
17g.42544147G=CA2260530631NAGLUc.2141G= (p.Arg714=)
c.1479G= (n.1479G=)
c.1310G= (p.Arg437=)
c.1142G= (p.Arg381=)
c.2198G= (p.Arg733=)
17g.42544147G>TCA8577148NAGLUc.2141G>T (p.Arg714Met)
c.1479G>T (n.1479G>T)
c.1310G>T (p.Arg437Met)
c.1142G>T (p.Arg381Met)
c.2198G>T (p.Arg733Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42544148G>ACA500217651NAGLUc.2142G>A (p.Arg714=)
c.1480G>A (n.1480G>A)
c.1311G>A (p.Arg437=)
c.1143G>A (p.Arg381=)
c.2199G>A (p.Arg733=)
17g.42544148G>CCA399606253NAGLUc.2142G>C (p.Arg714Ser)
c.1480G>C (n.1480G>C)
c.1311G>C (p.Arg437Ser)
c.1143G>C (p.Arg381Ser)
c.2199G>C (p.Arg733Ser)
17g.42544148G>TCA399606254NAGLUc.2142G>T (p.Arg714Ser)
c.1480G>T (n.1480G>T)
c.1311G>T (p.Arg437Ser)
c.1143G>T (p.Arg381Ser)
c.2199G>T (p.Arg733Ser)
 gnomAD v4
17g.42544149T>ACA399606255NAGLUc.2143T>A (p.Tyr715Asn)
c.1481T>A (n.1481T>A)
c.1312T>A (p.Tyr438Asn)
c.1144T>A (p.Tyr382Asn)
c.2200T>A (p.Tyr734Asn)
17g.42544149T>CCA399606256NAGLUc.2143T>C (p.Tyr715His)
c.1481T>C (n.1481T>C)
c.1312T>C (p.Tyr438His)
c.1144T>C (p.Tyr382His)
c.2200T>C (p.Tyr734His)
 gnomAD v4
17g.42544149T>GCA399606257NAGLUc.2143T>G (p.Tyr715Asp)
c.1481T>G (n.1481T>G)
c.1312T>G (p.Tyr438Asp)
c.1144T>G (p.Tyr382Asp)
c.2200T>G (p.Tyr734Asp)
17g.42544150A=CA2260530632NAGLUc.2144A= (p.Tyr715=)
c.1482A= (n.1482A=)
c.1313A= (p.Tyr438=)
c.1145A= (p.Tyr382=)
c.2201A= (p.Tyr734=)
17g.42544150A>CCA8577149NAGLUc.2144A>C (p.Tyr715Ser)
c.1482A>C (n.1482A>C)
c.1313A>C (p.Tyr438Ser)
c.1145A>C (p.Tyr382Ser)
c.2201A>C (p.Tyr734Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42544150A>GCA399606258NAGLUc.2144A>G (p.Tyr715Cys)
c.1482A>G (n.1482A>G)
c.1313A>G (p.Tyr438Cys)
c.1145A>G (p.Tyr382Cys)
c.2201A>G (p.Tyr734Cys)
 gnomAD v4
17g.42544150A>TCA399606259NAGLUc.2144A>T (p.Tyr715Phe)
c.1482A>T (n.1482A>T)
c.1313A>T (p.Tyr438Phe)
c.1145A>T (p.Tyr382Phe)
c.2201A>T (p.Tyr734Phe)
 dbSNP
17g.42544151C>ACA399606260NAGLUc.2145C>A (p.Tyr715Ter)
c.1483C>A (n.1483C>A)
c.1314C>A (p.Tyr438Ter)
c.1146C>A (p.Tyr382Ter)
c.2202C>A (p.Tyr734Ter)
17g.42544151C=CA2260530633NAGLUc.2145C= (p.Tyr715=)
c.1483C= (n.1483C=)
c.1314C= (p.Tyr438=)
c.1146C= (p.Tyr382=)
c.2202C= (p.Tyr734=)
17g.42544151C>GCA399606261NAGLUc.2145C>G (p.Tyr715Ter)
c.1483C>G (n.1483C>G)
c.1314C>G (p.Tyr438Ter)
c.1146C>G (p.Tyr382Ter)
c.2202C>G (p.Tyr734Ter)
17g.42544151C>TCA500217672NAGLUc.2145C>T (p.Tyr715=)
c.1483C>T (n.1483C>T)
c.1314C>T (p.Tyr438=)
c.1146C>T (p.Tyr382=)
c.2202C>T (p.Tyr734=)
 ClinVar dbSNP gnomAD v2
17g.42544152C>ACA399606262NAGLUc.2146C>A (p.Pro716Thr)
c.1484C>A (n.1484C>A)
c.1315C>A (p.Pro439Thr)
c.1147C>A (p.Pro383Thr)
c.2203C>A (p.Pro735Thr)
17g.42544152C=CA2260530634NAGLUc.2146C= (p.Pro716=)
c.1484C= (n.1484C=)
c.1315C= (p.Pro439=)
c.1147C= (p.Pro383=)
c.2203C= (p.Pro735=)
17g.42544152C>GCA399606264NAGLUc.2146C>G (p.Pro716Ala)
c.1484C>G (n.1484C>G)
c.1315C>G (p.Pro439Ala)
c.1147C>G (p.Pro383Ala)
c.2203C>G (p.Pro735Ala)
 gnomAD v4
17g.42544152C>TCA399606263NAGLUc.2146C>T (p.Pro716Ser)
c.1484C>T (n.1484C>T)
c.1315C>T (p.Pro439Ser)
c.1147C>T (p.Pro383Ser)
c.2203C>T (p.Pro735Ser)
 ClinVar dbSNP gnomAD v4
17g.42544153C>ACA399606265NAGLUc.2147C>A (p.Pro716His)
c.1485C>A (n.1485C>A)
c.1316C>A (p.Pro439His)
c.1148C>A (p.Pro383His)
c.2204C>A (p.Pro735His)
17g.42544153C=CA2260530635NAGLUc.2147C= (p.Pro716=)
c.1485C= (n.1485C=)
c.1316C= (p.Pro439=)
c.1148C= (p.Pro383=)
c.2204C= (p.Pro735=)
17g.42544153C>GCA399606266NAGLUc.2147C>G (p.Pro716Arg)
c.1485C>G (n.1485C>G)
c.1316C>G (p.Pro439Arg)
c.1148C>G (p.Pro383Arg)
c.2204C>G (p.Pro735Arg)
17g.42544153C>TCA399606267NAGLUc.2147C>T (p.Pro716Leu)
c.1485C>T (n.1485C>T)
c.1316C>T (p.Pro439Leu)
c.1148C>T (p.Pro383Leu)
c.2204C>T (p.Pro735Leu)
 dbSNP
17g.42544154C>ACA500217692NAGLUc.2148C>A (p.Pro716=)
c.1486C>A (n.1486C>A)
c.1317C>A (p.Pro439=)
c.1149C>A (p.Pro383=)
c.2205C>A (p.Pro735=)
17g.42544154C=CA2260530636NAGLUc.2148C= (p.Pro716=)
c.1486C= (n.1486C=)
c.1317C= (p.Pro439=)
c.1149C= (p.Pro383=)
c.2205C= (p.Pro735=)
17g.42544154C>GCA500217699NAGLUc.2148C>G (p.Pro716=)
c.1486C>G (n.1486C>G)
c.1317C>G (p.Pro439=)
c.1149C>G (p.Pro383=)
c.2205C>G (p.Pro735=)
 dbSNP gnomAD v2
17g.42544154C>TCA500217689NAGLUc.2148C>T (p.Pro716=)
c.1486C>T (n.1486C>T)
c.1317C>T (p.Pro439=)
c.1149C>T (p.Pro383=)
c.2205C>T (p.Pro735=)
 gnomAD v4
17g.42544155A>CCA399606268NAGLUc.2149A>C (p.Ser717Arg)
c.1487A>C (n.1487A>C)
c.1318A>C (p.Ser440Arg)
c.1150A>C (p.Ser384Arg)
c.2206A>C (p.Ser736Arg)
17g.42544155A>GCA399606269NAGLUc.2149A>G (p.Ser717Gly)
c.1487A>G (n.1487A>G)
c.1318A>G (p.Ser440Gly)
c.1150A>G (p.Ser384Gly)
c.2206A>G (p.Ser736Gly)
17g.42544155A>TCA399606270NAGLUc.2149A>T (p.Ser717Cys)
c.1487A>T (n.1487A>T)
c.1318A>T (p.Ser440Cys)
c.1150A>T (p.Ser384Cys)
c.2206A>T (p.Ser736Cys)
17g.42544156G>ACA399606271NAGLUc.2150G>A (p.Ser717Asn)
c.1488G>A (n.1488G>A)
c.1319G>A (p.Ser440Asn)
c.1151G>A (p.Ser384Asn)
c.2207G>A (p.Ser736Asn)
17g.42544156G>CCA290781246NAGLUc.2150G>C (p.Ser717Thr)
c.1488G>C (n.1488G>C)
c.1319G>C (p.Ser440Thr)
c.1151G>C (p.Ser384Thr)
c.2207G>C (p.Ser736Thr)
 ClinVar dbSNP gnomAD v4
17g.42544156G=CA2260530637NAGLUc.2150G= (p.Ser717=)
c.1488G= (n.1488G=)
c.1319G= (p.Ser440=)
c.1151G= (p.Ser384=)
c.2207G= (p.Ser736=)
17g.42544156G>TCA399606272NAGLUc.2150G>T (p.Ser717Ile)
c.1488G>T (n.1488G>T)
c.1319G>T (p.Ser440Ile)
c.1151G>T (p.Ser384Ile)
c.2207G>T (p.Ser736Ile)
17g.42544157C>ACA399606273NAGLUc.2151C>A (p.Ser717Arg)
c.1489C>A (n.1489C>A)
c.1320C>A (p.Ser440Arg)
c.1152C>A (p.Ser384Arg)
c.2208C>A (p.Ser736Arg)
17g.42544157C>GCA399606274NAGLUc.2151C>G (p.Ser717Arg)
c.1489C>G (n.1489C>G)
c.1320C>G (p.Ser440Arg)
c.1152C>G (p.Ser384Arg)
c.2208C>G (p.Ser736Arg)
17g.42544157C>TCA500217725NAGLUc.2151C>T (p.Ser717=)
c.1489C>T (n.1489C>T)
c.1320C>T (p.Ser440=)
c.1152C>T (p.Ser384=)
c.2208C>T (p.Ser736=)
17g.42544158C>ACA399606276NAGLUc.2152C>A (p.Gln718Lys)
c.1490C>A (n.1490C>A)
c.1321C>A (p.Gln441Lys)
c.1153C>A (p.Gln385Lys)
c.2209C>A (p.Gln737Lys)
17g.42544158C>GCA399606277NAGLUc.2152C>G (p.Gln718Glu)
c.1490C>G (n.1490C>G)
c.1321C>G (p.Gln441Glu)
c.1153C>G (p.Gln385Glu)
c.2209C>G (p.Gln737Glu)
17g.42544158C>TCA399606275NAGLUc.2152C>T (p.Gln718Ter)
c.1490C>T (n.1490C>T)
c.1321C>T (p.Gln441Ter)
c.1153C>T (p.Gln385Ter)
c.2209C>T (p.Gln737Ter)
17g.42544159A>CCA399606280NAGLUc.2153A>C (p.Gln718Pro)
c.1491A>C (n.1491A>C)
c.1322A>C (p.Gln441Pro)
c.1154A>C (p.Gln385Pro)
c.2210A>C (p.Gln737Pro)
17g.42544159A>GCA399606278NAGLUc.2153A>G (p.Gln718Arg)
c.1491A>G (n.1491A>G)
c.1322A>G (p.Gln441Arg)
c.1154A>G (p.Gln385Arg)
c.2210A>G (p.Gln737Arg)
17g.42544159A>TCA399606279NAGLUc.2153A>T (p.Gln718Leu)
c.1491A>T (n.1491A>T)
c.1322A>T (p.Gln441Leu)
c.1154A>T (p.Gln385Leu)
c.2210A>T (p.Gln737Leu)
17g.42544160G>ACA500217744NAGLUc.2154G>A (p.Gln718=)
c.1492G>A (n.1492G>A)
c.1323G>A (p.Gln441=)
c.1155G>A (p.Gln385=)
c.2211G>A (p.Gln737=)
 ClinVar
17g.42544160G>CCA8577150NAGLUc.2154G>C (p.Gln718His)
c.1492G>C (n.1492G>C)
c.1323G>C (p.Gln441His)
c.1155G>C (p.Gln385His)
c.2211G>C (p.Gln737His)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42544160G=CA2260530638NAGLUc.2154G= (p.Gln718=)
c.1492G= (n.1492G=)
c.1323G= (p.Gln441=)
c.1155G= (p.Gln385=)
c.2211G= (p.Gln737=)
17g.42544160G>TCA399606281NAGLUc.2154G>T (p.Gln718His)
c.1492G>T (n.1492G>T)
c.1323G>T (p.Gln441His)
c.1155G>T (p.Gln385His)
c.2211G>T (p.Gln737His)
17g.42544161C>ACA399606282NAGLUc.2155C>A (p.Pro719Thr)
c.1493C>A (n.1493C>A)
c.1324C>A (p.Pro442Thr)
c.1156C>A (p.Pro386Thr)
c.2212C>A (p.Pro738Thr)
17g.42544161C>GCA399606283NAGLUc.2155C>G (p.Pro719Ala)
c.1493C>G (n.1493C>G)
c.1324C>G (p.Pro442Ala)
c.1156C>G (p.Pro386Ala)
c.2212C>G (p.Pro738Ala)
17g.42544161C>TCA399606284NAGLUc.2155C>T (p.Pro719Ser)
c.1493C>T (n.1493C>T)
c.1324C>T (p.Pro442Ser)
c.1156C>T (p.Pro386Ser)
c.2212C>T (p.Pro738Ser)
17g.42544162C>ACA399606285NAGLUc.2156C>A (p.Pro719Gln)
c.1325C>A (p.Pro442Gln)
c.1157C>A (p.Pro386Gln)
c.2213C>A (p.Pro738Gln)
17g.42544162C=CA2260530639NAGLUc.2156C= (p.Pro719=)
c.1325C= (p.Pro442=)
c.1157C= (p.Pro386=)
c.2213C= (p.Pro738=)
17g.42544162C>GCA399606286NAGLUc.2156C>G (p.Pro719Arg)
c.1325C>G (p.Pro442Arg)
c.1157C>G (p.Pro386Arg)
c.2213C>G (p.Pro738Arg)
17g.42544162C>TCA290781251NAGLUc.2156C>T (p.Pro719Leu)
c.1325C>T (p.Pro442Leu)
c.1157C>T (p.Pro386Leu)
c.2213C>T (p.Pro738Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42544163G>ACA8577151NAGLUc.2157G>A (p.Pro719=)
c.1326G>A (p.Pro442=)
c.1158G>A (p.Pro386=)
c.2214G>A (p.Pro738=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42544163G>CCA500217765NAGLUc.2157G>C (p.Pro719=)
c.1326G>C (p.Pro442=)
c.1158G>C (p.Pro386=)
c.2214G>C (p.Pro738=)
17g.42544163G=CA2260530640NAGLUc.2157G= (p.Pro719=)
c.1326G= (p.Pro442=)
c.1158G= (p.Pro386=)
c.2214G= (p.Pro738=)
17g.42544163G>TCA290781252NAGLUc.2157G>T (p.Pro719=)
c.1326G>T (p.Pro442=)
c.1158G>T (p.Pro386=)
c.2214G>T (p.Pro738=)
 ClinVar dbSNP gnomAD v4
17g.42544164C>ACA500217777NAGLUc.2158C>A (p.Arg720=)
c.1327C>A (p.Arg443=)
c.1159C>A (p.Arg387=)
c.2215C>A (p.Arg739=)
17g.42544164C=CA2260530641NAGLUc.2158C= (p.Arg720=)
c.1327C= (p.Arg443=)
c.1159C= (p.Arg387=)
c.2215C= (p.Arg739=)
17g.42544164C>GCA399606287NAGLUc.2158C>G (p.Arg720Gly)
c.1327C>G (p.Arg443Gly)
c.1159C>G (p.Arg387Gly)
c.2215C>G (p.Arg739Gly)
17g.42544164C>TCA399606288NAGLUc.2158C>T (p.Arg720Ter)
c.1327C>T (p.Arg443Ter)
c.1159C>T (p.Arg387Ter)
c.2215C>T (p.Arg739Ter)
 ClinVar dbSNP gnomAD v4 COSMIC
17g.42544165G>ACA8577152NAGLUc.2159G>A (p.Arg720Gln)
c.1328G>A (p.Arg443Gln)
c.1160G>A (p.Arg387Gln)
c.2216G>A (p.Arg739Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42544165G>CCA399606290NAGLUc.2159G>C (p.Arg720Pro)
c.1328G>C (p.Arg443Pro)
c.1160G>C (p.Arg387Pro)
c.2216G>C (p.Arg739Pro)
 dbSNP
17g.42544165G=CA2260530642NAGLUc.2159G= (p.Arg720=)
c.1328G= (p.Arg443=)
c.1160G= (p.Arg387=)
c.2216G= (p.Arg739=)
17g.42544165G>TCA399606289NAGLUc.2159G>T (p.Arg720Leu)
c.1328G>T (p.Arg443Leu)
c.1160G>T (p.Arg387Leu)
c.2216G>T (p.Arg739Leu)
17g.42544166A>CCA500217795NAGLUc.2160A>C (p.Arg720=)
c.1329A>C (p.Arg443=)
c.1161A>C (p.Arg387=)
c.2217A>C (p.Arg739=)
17g.42544166A>GCA500217798NAGLUc.2160A>G (p.Arg720=)
c.1329A>G (p.Arg443=)
c.1161A>G (p.Arg387=)
c.2217A>G (p.Arg739=)
17g.42544166A>TCA500217793NAGLUc.2160A>T (p.Arg720=)
c.1329A>T (p.Arg443=)
c.1161A>T (p.Arg387=)
c.2217A>T (p.Arg739=)
17g.42544167G>ACA399606291NAGLUc.2161G>A (p.Gly721Arg)
c.1330G>A (p.Gly444Arg)
c.1162G>A (p.Gly388Arg)
c.2218G>A (p.Gly740Arg)
17g.42544167G>CCA399606292NAGLUc.2161G>C (p.Gly721Arg)
c.1330G>C (p.Gly444Arg)
c.1162G>C (p.Gly388Arg)
c.2218G>C (p.Gly740Arg)
 gnomAD v4
17g.42544167G>TCA399606293NAGLUc.2161G>T (p.Gly721Ter)
c.1330G>T (p.Gly444Ter)
c.1162G>T (p.Gly388Ter)
c.2218G>T (p.Gly740Ter)
17g.42544168G>ACA399606294NAGLUc.2162G>A (p.Gly721Glu)
c.1331G>A (p.Gly444Glu)
c.1163G>A (p.Gly388Glu)
c.2219G>A (p.Gly740Glu)
17g.42544168G>CCA399606295NAGLUc.2162G>C (p.Gly721Ala)
c.1331G>C (p.Gly444Ala)
c.1163G>C (p.Gly388Ala)
c.2219G>C (p.Gly740Ala)
 dbSNP
17g.42544168G=CA2260530643NAGLUc.2162G= (p.Gly721=)
c.1331G= (p.Gly444=)
c.1163G= (p.Gly388=)
c.2219G= (p.Gly740=)
17g.42544168G>TCA399606296NAGLUc.2162G>T (p.Gly721Val)
c.1331G>T (p.Gly444Val)
c.1163G>T (p.Gly388Val)
c.2219G>T (p.Gly740Val)
 gnomAD v4
17g.42544169A=CA2260530644NAGLUc.2163A= (p.Gly721=)
c.1332A= (p.Gly444=)
c.1164A= (p.Gly388=)
c.2220A= (p.Gly740=)
17g.42544169A>CCA500217820NAGLUc.2163A>C (p.Gly721=)
c.1332A>C (p.Gly444=)
c.1164A>C (p.Gly388=)
c.2220A>C (p.Gly740=)
 dbSNP
17g.42544169A>GCA500217823NAGLUc.2163A>G (p.Gly721=)
c.1332A>G (p.Gly444=)
c.1164A>G (p.Gly388=)
c.2220A>G (p.Gly740=)
17g.42544169A>TCA500217829NAGLUc.2163A>T (p.Gly721=)
c.1332A>T (p.Gly444=)
c.1164A>T (p.Gly388=)
c.2220A>T (p.Gly740=)
17g.42544170G>ACA8577153NAGLUc.2164G>A (p.Asp722Asn)
c.1333G>A (p.Asp445Asn)
c.1165G>A (p.Asp389Asn)
c.2221G>A (p.Asp741Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42544170G>CCA399606297NAGLUc.2164G>C (p.Asp722His)
c.1333G>C (p.Asp445His)
c.1165G>C (p.Asp389His)
c.2221G>C (p.Asp741His)
17g.42544170G=CA2260530645NAGLUc.2164G= (p.Asp722=)
c.1333G= (p.Asp445=)
c.1165G= (p.Asp389=)
c.2221G= (p.Asp741=)
17g.42544170G>TCA399606298NAGLUc.2164G>T (p.Asp722Tyr)
c.1333G>T (p.Asp445Tyr)
c.1165G>T (p.Asp389Tyr)
c.2221G>T (p.Asp741Tyr)
17g.42544171A>CCA399606299NAGLUc.2165A>C (p.Asp722Ala)
c.1334A>C (p.Asp445Ala)
c.1166A>C (p.Asp389Ala)
c.2222A>C (p.Asp741Ala)
17g.42544171A>GCA399606300NAGLUc.2165A>G (p.Asp722Gly)
c.1334A>G (p.Asp445Gly)
c.1166A>G (p.Asp389Gly)
c.2222A>G (p.Asp741Gly)
17g.42544171A>TCA399606301NAGLUc.2165A>T (p.Asp722Val)
c.1334A>T (p.Asp445Val)
c.1166A>T (p.Asp389Val)
c.2222A>T (p.Asp741Val)
17g.42544172C>ACA399606302NAGLUc.2166C>A (p.Asp722Glu)
c.1335C>A (p.Asp445Glu)
c.1167C>A (p.Asp389Glu)
c.2223C>A (p.Asp741Glu)
17g.42544172C>GCA399606303NAGLUc.2166C>G (p.Asp722Glu)
c.1335C>G (p.Asp445Glu)
c.1167C>G (p.Asp389Glu)
c.2223C>G (p.Asp741Glu)
17g.42544172C>TCA500217856NAGLUc.2166C>T (p.Asp722=)
c.1335C>T (p.Asp445=)
c.1167C>T (p.Asp389=)
c.2223C>T (p.Asp741=)
17g.42544173A>CCA399606304NAGLUc.2167A>C (p.Thr723Pro)
c.1336A>C (p.Thr446Pro)
c.1168A>C (p.Thr390Pro)
c.2224A>C (p.Thr742Pro)
17g.42544173A>GCA399606305NAGLUc.2167A>G (p.Thr723Ala)
c.1336A>G (p.Thr446Ala)
c.1168A>G (p.Thr390Ala)
c.2224A>G (p.Thr742Ala)
17g.42544173A>TCA399606306NAGLUc.2167A>T (p.Thr723Ser)
c.1336A>T (p.Thr446Ser)
c.1168A>T (p.Thr390Ser)
c.2224A>T (p.Thr742Ser)
17g.42544174C>ACA399606307NAGLUc.2168C>A (p.Thr723Asn)
c.1337C>A (p.Thr446Asn)
c.1169C>A (p.Thr390Asn)
c.2225C>A (p.Thr742Asn)
17g.42544174C>GCA399606308NAGLUc.2168C>G (p.Thr723Ser)
c.1337C>G (p.Thr446Ser)
c.1169C>G (p.Thr390Ser)
c.2225C>G (p.Thr742Ser)
 gnomAD v4
17g.42544174C>TCA399606309NAGLUc.2168C>T (p.Thr723Ile)
c.1337C>T (p.Thr446Ile)
c.1169C>T (p.Thr390Ile)
c.2225C>T (p.Thr742Ile)
17g.42544175T>ACA500217879NAGLUc.2169T>A (p.Thr723=)
c.1338T>A (p.Thr446=)
c.1170T>A (p.Thr390=)
c.2226T>A (p.Thr742=)
17g.42544175T>CCA500217870NAGLUc.2169T>C (p.Thr723=)
c.1338T>C (p.Thr446=)
c.1170T>C (p.Thr390=)
c.2226T>C (p.Thr742=)
 ClinVar dbSNP
17g.42544175T>GCA500217872NAGLUc.2169T>G (p.Thr723=)
c.1338T>G (p.Thr446=)
c.1170T>G (p.Thr390=)
c.2226T>G (p.Thr742=)
17g.42544177_42544178delCA645588253NAGLUc.2171_2172del (p.Val724GlyfsTer?)
c.1340_1341del (p.Val447GlyfsTer?)
c.1172_1173del (p.Val391GlyfsTer?)
c.2228_2229del (p.Val743GlyfsTer?)
 ClinVar dbSNP gnomAD v4 COSMIC
17g.42544176G>ACA399606310NAGLUc.2170G>A (p.Val724Met)
c.1339G>A (p.Val447Met)
c.1171G>A (p.Val391Met)
c.2227G>A (p.Val743Met)
 dbSNP
17g.42544176G>CCA399606311NAGLUc.2170G>C (p.Val724Leu)
c.1339G>C (p.Val447Leu)
c.1171G>C (p.Val391Leu)
c.2227G>C (p.Val743Leu)
17g.42544176G=CA2260530646NAGLUc.2170G= (p.Val724=)
c.1339G= (p.Val447=)
c.1171G= (p.Val391=)
c.2227G= (p.Val743=)
17g.42544176G>TCA399606312NAGLUc.2170G>T (p.Val724Leu)
c.1339G>T (p.Val447Leu)
c.1171G>T (p.Val391Leu)
c.2227G>T (p.Val743Leu)
17g.42544177T>ACA399606313NAGLUc.2171T>A (p.Val724Glu)
c.1340T>A (p.Val447Glu)
c.1172T>A (p.Val391Glu)
c.2228T>A (p.Val743Glu)
17g.42544177T>CCA399606314NAGLUc.2171T>C (p.Val724Ala)
c.1340T>C (p.Val447Ala)
c.1172T>C (p.Val391Ala)
c.2228T>C (p.Val743Ala)
17g.42544177T>GCA399606315NAGLUc.2171T>G (p.Val724Gly)
c.1340T>G (p.Val447Gly)
c.1172T>G (p.Val391Gly)
c.2228T>G (p.Val743Gly)
17g.42544178G>ACA500217904NAGLUc.2172G>A (p.Val724=)
c.1341G>A (p.Val447=)
c.1173G>A (p.Val391=)
c.2229G>A (p.Val743=)
17g.42544178G>CCA500217907NAGLUc.2172G>C (p.Val724=)
c.1341G>C (p.Val447=)
c.1173G>C (p.Val391=)
c.2229G>C (p.Val743=)
17g.42544178G>TCA500217903NAGLUc.2172G>T (p.Val724=)
c.1341G>T (p.Val447=)
c.1173G>T (p.Val391=)
c.2229G>T (p.Val743=)
17g.42544179G>ACA399606317NAGLUc.2173G>A (p.Asp725Asn)
c.1342G>A (p.Asp448Asn)
c.1174G>A (p.Asp392Asn)
c.2230G>A (p.Asp744Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42544179G>CCA399606318NAGLUc.2173G>C (p.Asp725His)
c.1342G>C (p.Asp448His)
c.1174G>C (p.Asp392His)
c.2230G>C (p.Asp744His)
17g.42544179G=CA2260530647NAGLUc.2173G= (p.Asp725=)
c.1342G= (p.Asp448=)
c.1174G= (p.Asp392=)
c.2230G= (p.Asp744=)
17g.42544179G>TCA399606316NAGLUc.2173G>T (p.Asp725Tyr)
c.1342G>T (p.Asp448Tyr)
c.1174G>T (p.Asp392Tyr)
c.2230G>T (p.Asp744Tyr)
 gnomAD v4
17g.42544180delCA2537986853NAGLUc.2174del (p.Asp725AlafsTer?)
c.1343del (p.Asp448AlafsTer?)
c.1175del (p.Asp392AlafsTer?)
c.2231del (p.Asp744AlafsTer?)
17g.42544180A>CCA399606319NAGLUc.2174A>C (p.Asp725Ala)
c.1343A>C (p.Asp448Ala)
c.1175A>C (p.Asp392Ala)
c.2231A>C (p.Asp744Ala)
17g.42544180A>GCA399606320NAGLUc.2174A>G (p.Asp725Gly)
c.1343A>G (p.Asp448Gly)
c.1175A>G (p.Asp392Gly)
c.2231A>G (p.Asp744Gly)
17g.42544180A>TCA399606321NAGLUc.2174A>T (p.Asp725Val)
c.1343A>T (p.Asp448Val)
c.1175A>T (p.Asp392Val)
c.2231A>T (p.Asp744Val)
 gnomAD v4
17g.42544181C>ACA399606322NAGLUc.2175C>A (p.Asp725Glu)
c.1344C>A (p.Asp448Glu)
c.1176C>A (p.Asp392Glu)
c.2232C>A (p.Asp744Glu)
17g.42544181C>GCA399606323NAGLUc.2175C>G (p.Asp725Glu)
c.1344C>G (p.Asp448Glu)
c.1176C>G (p.Asp392Glu)
c.2232C>G (p.Asp744Glu)
17g.42544181C>TCA500217935NAGLUc.2175C>T (p.Asp725=)
c.1344C>T (p.Asp448=)
c.1176C>T (p.Asp392=)
c.2232C>T (p.Asp744=)
 gnomAD v4
17g.42544182C>ACA399606325NAGLUc.2176C>A (p.Leu726Met)
c.1345C>A (p.Leu449Met)
c.1177C>A (p.Leu393Met)
c.2233C>A (p.Leu745Met)
17g.42544182C=CA2260530648NAGLUc.2176C= (p.Leu726=)
c.1345C= (p.Leu449=)
c.1177C= (p.Leu393=)
c.2233C= (p.Leu745=)
17g.42544182C>GCA399606324NAGLUc.2176C>G (p.Leu726Val)
c.1345C>G (p.Leu449Val)
c.1177C>G (p.Leu393Val)
c.2233C>G (p.Leu745Val)
17g.42544182C>TCA500217939NAGLUc.2176C>T (p.Leu726=)
c.1345C>T (p.Leu449=)
c.1177C>T (p.Leu393=)
c.2233C>T (p.Leu745=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42544183T>ACA399606326NAGLUc.2177T>A (p.Leu726Gln)
c.1346T>A (p.Leu449Gln)
c.1178T>A (p.Leu393Gln)
c.2234T>A (p.Leu745Gln)
17g.42544183T>CCA399606327NAGLUc.2177T>C (p.Leu726Pro)
c.1346T>C (p.Leu449Pro)
c.1178T>C (p.Leu393Pro)
c.2234T>C (p.Leu745Pro)
 dbSNP gnomAD v3 gnomAD v4
17g.42544183T>GCA399606328NAGLUc.2177T>G (p.Leu726Arg)
c.1346T>G (p.Leu449Arg)
c.1178T>G (p.Leu393Arg)
c.2234T>G (p.Leu745Arg)
17g.42544183T=CA2260530649NAGLUc.2177T= (p.Leu726=)
c.1346T= (p.Leu449=)
c.1178T= (p.Leu393=)
c.2234T= (p.Leu745=)
17g.42544184G>ACA500217956NAGLUc.2178G>A (p.Leu726=)
c.1347G>A (p.Leu449=)
c.1179G>A (p.Leu393=)
c.2235G>A (p.Leu745=)
17g.42544184G>CCA500217959NAGLUc.2178G>C (p.Leu726=)
c.1347G>C (p.Leu449=)
c.1179G>C (p.Leu393=)
c.2235G>C (p.Leu745=)
17g.42544184G>TCA500217958NAGLUc.2178G>T (p.Leu726=)
c.1347G>T (p.Leu449=)
c.1179G>T (p.Leu393=)
c.2235G>T (p.Leu745=)
 gnomAD v4
17g.42544185G>ACA399606329NAGLUc.2179G>A (p.Ala727Thr)
c.1348G>A (p.Ala450Thr)
c.1180G>A (p.Ala394Thr)
c.2236G>A (p.Ala746Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42544185G>CCA399606330NAGLUc.2179G>C (p.Ala727Pro)
c.1348G>C (p.Ala450Pro)
c.1180G>C (p.Ala394Pro)
c.2236G>C (p.Ala746Pro)
17g.42544185G=CA2260530650NAGLUc.2179G= (p.Ala727=)
c.1348G= (p.Ala450=)
c.1180G= (p.Ala394=)
c.2236G= (p.Ala746=)
17g.42544185G>TCA399606331NAGLUc.2179G>T (p.Ala727Ser)
c.1348G>T (p.Ala450Ser)
c.1180G>T (p.Ala394Ser)
c.2236G>T (p.Ala746Ser)
 gnomAD v4
17g.42544186C>ACA399606335NAGLUc.2180C>A (p.Ala727Asp)
c.1349C>A (p.Ala450Asp)
c.1181C>A (p.Ala394Asp)
c.2237C>A (p.Ala746Asp)
 gnomAD v4
17g.42544186C>GCA399606333NAGLUc.2180C>G (p.Ala727Gly)
c.1349C>G (p.Ala450Gly)
c.1181C>G (p.Ala394Gly)
c.2237C>G (p.Ala746Gly)
17g.42544186C>TCA399606332NAGLUc.2180C>T (p.Ala727Val)
c.1349C>T (p.Ala450Val)
c.1181C>T (p.Ala394Val)
c.2237C>T (p.Ala746Val)
17g.42544187C>ACA500218007NAGLUc.2181C>A (p.Ala727=)
c.1350C>A (p.Ala450=)
c.1182C>A (p.Ala394=)
c.2238C>A (p.Ala746=)
17g.42544187C>GCA500218011NAGLUc.2181C>G (p.Ala727=)
c.1350C>G (p.Ala450=)
c.1182C>G (p.Ala394=)
c.2238C>G (p.Ala746=)
 gnomAD v4
17g.42544187C>TCA500218017NAGLUc.2181C>T (p.Ala727=)
c.1350C>T (p.Ala450=)
c.1182C>T (p.Ala394=)
c.2238C>T (p.Ala746=)
 gnomAD v2
17g.42544187_42544190delCA913012297NAGLUc.2181_2184del (p.Lys728ArgfsTer?)
c.1350_1353del (p.Lys451ArgfsTer?)
c.1182_1185del (p.Lys395ArgfsTer?)
c.2238_2241del (p.Lys747ArgfsTer?)
17g.42544187_42544190delinsCAAGCA2260530651NAGLUc.2181_2184delinsCAAG (p.Ala727=)
c.1350_1353delinsCAAG (p.Ala450=)
c.1182_1185delinsCAAG (p.Ala394=)
c.2238_2241delinsCAAG (p.Ala746=)
17g.42544188A>CCA399606338NAGLUc.2182A>C (p.Lys728Gln)
c.1351A>C (p.Lys451Gln)
c.1183A>C (p.Lys395Gln)
c.2239A>C (p.Lys747Gln)
 gnomAD v4
17g.42544188A>GCA399606340NAGLUc.2182A>G (p.Lys728Glu)
c.1351A>G (p.Lys451Glu)
c.1183A>G (p.Lys395Glu)
c.2239A>G (p.Lys747Glu)
17g.42544188A>TCA399606342NAGLUc.2182A>T (p.Lys728Ter)
c.1351A>T (p.Lys451Ter)
c.1183A>T (p.Lys395Ter)
c.2239A>T (p.Lys747Ter)
17g.42544192_42544194delCA626218627NAGLUc.2186_2188del (p.Lys729del)
c.1355_1357del (p.Lys452del)
c.1187_1189del (p.Lys396del)
c.2243_2245del (p.Lys748del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42544189A>CCA399606344NAGLUc.2183A>C (p.Lys728Thr)
c.1352A>C (p.Lys451Thr)
c.1184A>C (p.Lys395Thr)
c.2240A>C (p.Lys747Thr)
17g.42544189A>GCA399606346NAGLUc.2183A>G (p.Lys728Arg)
c.1352A>G (p.Lys451Arg)
c.1184A>G (p.Lys395Arg)
c.2240A>G (p.Lys747Arg)
17g.42544189A>TCA399606347NAGLUc.2183A>T (p.Lys728Met)
c.1352A>T (p.Lys451Met)
c.1184A>T (p.Lys395Met)
c.2240A>T (p.Lys747Met)
17g.42544190G>ACA500218061NAGLUc.2184G>A (p.Lys728=)
c.1353G>A (p.Lys451=)
c.1185G>A (p.Lys395=)
c.2241G>A (p.Lys747=)
 gnomAD v4
17g.42544190G>CCA399606349NAGLUc.2184G>C (p.Lys728Asn)
c.1353G>C (p.Lys451Asn)
c.1185G>C (p.Lys395Asn)
c.2241G>C (p.Lys747Asn)
17g.42544190G>TCA399606351NAGLUc.2184G>T (p.Lys728Asn)
c.1353G>T (p.Lys451Asn)
c.1185G>T (p.Lys395Asn)
c.2241G>T (p.Lys747Asn)
17g.42544191A=CA2260530652NAGLUc.2185A= (p.Lys729=)
c.1354A= (p.Lys452=)
c.1186A= (p.Lys396=)
c.2242A= (p.Lys748=)
17g.42544191A>CCA8577154NAGLUc.2185A>C (p.Lys729Gln)
c.1354A>C (p.Lys452Gln)
c.1186A>C (p.Lys396Gln)
c.2242A>C (p.Lys748Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42544191A>GCA399606356NAGLUc.2185A>G (p.Lys729Glu)
c.1354A>G (p.Lys452Glu)
c.1186A>G (p.Lys396Glu)
c.2242A>G (p.Lys748Glu)
17g.42544191A>TCA399606354NAGLUc.2185A>T (p.Lys729Ter)
c.1354A>T (p.Lys452Ter)
c.1186A>T (p.Lys396Ter)
c.2242A>T (p.Lys748Ter)
17g.42544192A=CA2260530653NAGLUc.2186A= (p.Lys729=)
c.1355A= (p.Lys452=)
c.1187A= (p.Lys396=)
c.2243A= (p.Lys748=)
17g.42544192A>CCA399606358NAGLUc.2186A>C (p.Lys729Thr)
c.1355A>C (p.Lys452Thr)
c.1187A>C (p.Lys396Thr)
c.2243A>C (p.Lys748Thr)
17g.42544192A>GCA8577155NAGLUc.2186A>G (p.Lys729Arg)
c.1355A>G (p.Lys452Arg)
c.1187A>G (p.Lys396Arg)
c.2243A>G (p.Lys748Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42544192A>TCA399606361NAGLUc.2186A>T (p.Lys729Met)
c.1355A>T (p.Lys452Met)
c.1187A>T (p.Lys396Met)
c.2243A>T (p.Lys748Met)
17g.42544193G>ACA500218097NAGLUc.2187G>A (p.Lys729=)
c.1356G>A (p.Lys452=)
c.1188G>A (p.Lys396=)
c.2244G>A (p.Lys748=)
 gnomAD v4
17g.42544193G>CCA399606364NAGLUc.2187G>C (p.Lys729Asn)
c.1356G>C (p.Lys452Asn)
c.1188G>C (p.Lys396Asn)
c.2244G>C (p.Lys748Asn)
17g.42544193G>TCA399606365NAGLUc.2187G>T (p.Lys729Asn)
c.1356G>T (p.Lys452Asn)
c.1188G>T (p.Lys396Asn)
c.2244G>T (p.Lys748Asn)
17g.42544194A>CCA399606368NAGLUc.2188A>C (p.Ile730Leu)
c.1357A>C (p.Ile453Leu)
c.1189A>C (p.Ile397Leu)
c.2245A>C (p.Ile749Leu)
17g.42544194A>GCA399606371NAGLUc.2188A>G (p.Ile730Val)
c.1357A>G (p.Ile453Val)
c.1189A>G (p.Ile397Val)
c.2245A>G (p.Ile749Val)
17g.42544194A>TCA399606369NAGLUc.2188A>T (p.Ile730Phe)
c.1357A>T (p.Ile453Phe)
c.1189A>T (p.Ile397Phe)
c.2245A>T (p.Ile749Phe)
17g.42544195T>ACA399606374NAGLUc.2189T>A (p.Ile730Asn)
c.1358T>A (p.Ile453Asn)
c.1190T>A (p.Ile397Asn)
c.2246T>A (p.Ile749Asn)
17g.42544195T>CCA399606375NAGLUc.2189T>C (p.Ile730Thr)
c.1358T>C (p.Ile453Thr)
c.1190T>C (p.Ile397Thr)
c.2246T>C (p.Ile749Thr)
17g.42544195T>GCA399606378NAGLUc.2189T>G (p.Ile730Ser)
c.1358T>G (p.Ile453Ser)
c.1190T>G (p.Ile397Ser)
c.2246T>G (p.Ile749Ser)
17g.42544196delCA2695225870NAGLUc.2190del (p.Phe731SerfsTer?)
c.1359del (p.Phe454SerfsTer?)
c.1191del (p.Phe398SerfsTer?)
c.2247del (p.Phe750SerfsTer?)
17g.42544196C>ACA500218116NAGLUc.2190C>A (p.Ile730=)
c.1359C>A (p.Ile453=)
c.1191C>A (p.Ile397=)
c.2247C>A (p.Ile749=)
17g.42544196C>GCA399606380NAGLUc.2190C>G (p.Ile730Met)
c.1359C>G (p.Ile453Met)
c.1191C>G (p.Ile397Met)
c.2247C>G (p.Ile749Met)
17g.42544196C>TCA500218122NAGLUc.2190C>T (p.Ile730=)
c.1359C>T (p.Ile453=)
c.1191C>T (p.Ile397=)
c.2247C>T (p.Ile749=)
17g.42544197T>ACA399606382NAGLUc.2191T>A (p.Phe731Ile)
c.1360T>A (p.Phe454Ile)
c.1192T>A (p.Phe398Ile)
c.2248T>A (p.Phe750Ile)
17g.42544197T>CCA399606385NAGLUc.2191T>C (p.Phe731Leu)
c.1360T>C (p.Phe454Leu)
c.1192T>C (p.Phe398Leu)
c.2248T>C (p.Phe750Leu)
 ClinVar dbSNP
17g.42544197T>GCA8577156NAGLUc.2191T>G (p.Phe731Val)
c.1360T>G (p.Phe454Val)
c.1192T>G (p.Phe398Val)
c.2248T>G (p.Phe750Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42544197T=CA2260530654NAGLUc.2191T= (p.Phe731=)
c.1360T= (p.Phe454=)
c.1192T= (p.Phe398=)
c.2248T= (p.Phe750=)
17g.42544198T>ACA399606389NAGLUc.2192T>A (p.Phe731Tyr)
c.1361T>A (p.Phe454Tyr)
c.1193T>A (p.Phe398Tyr)
c.2249T>A (p.Phe750Tyr)
17g.42544198T>CCA399606390NAGLUc.2192T>C (p.Phe731Ser)
c.1361T>C (p.Phe454Ser)
c.1193T>C (p.Phe398Ser)
c.2249T>C (p.Phe750Ser)
17g.42544198T>GCA399606392NAGLUc.2192T>G (p.Phe731Cys)
c.1361T>G (p.Phe454Cys)
c.1193T>G (p.Phe398Cys)
c.2249T>G (p.Phe750Cys)
17g.42544199C>ACA399606395NAGLUc.2193C>A (p.Phe731Leu)
c.1362C>A (p.Phe454Leu)
c.1194C>A (p.Phe398Leu)
c.2250C>A (p.Phe750Leu)
17g.42544199C=CA2260530655NAGLUc.2193C= (p.Phe731=)
c.1362C= (p.Phe454=)
c.1194C= (p.Phe398=)
c.2250C= (p.Phe750=)
17g.42544199C>GCA399606397NAGLUc.2193C>G (p.Phe731Leu)
c.1362C>G (p.Phe454Leu)
c.1194C>G (p.Phe398Leu)
c.2250C>G (p.Phe750Leu)
17g.42544199C>TCA500218143NAGLUc.2193C>T (p.Phe731=)
c.1362C>T (p.Phe454=)
c.1194C>T (p.Phe398=)
c.2250C>T (p.Phe750=)
 dbSNP gnomAD v2
17g.42544200C>ACA399606400NAGLUc.2194C>A (p.Leu732Ile)
c.1363C>A (p.Leu455Ile)
c.1195C>A (p.Leu399Ile)
c.2251C>A (p.Leu751Ile)
 gnomAD v4
17g.42544200C>GCA399606404NAGLUc.2194C>G (p.Leu732Val)
c.1363C>G (p.Leu455Val)
c.1195C>G (p.Leu399Val)
c.2251C>G (p.Leu751Val)
17g.42544200C>TCA399606401NAGLUc.2194C>T (p.Leu732Phe)
c.1363C>T (p.Leu455Phe)
c.1195C>T (p.Leu399Phe)
c.2251C>T (p.Leu751Phe)
17g.42544201T>ACA399606406NAGLUc.2195T>A (p.Leu732His)
c.1364T>A (p.Leu455His)
c.1196T>A (p.Leu399His)
c.2252T>A (p.Leu751His)
17g.42544201T>CCA399606408NAGLUc.2195T>C (p.Leu732Pro)
c.1364T>C (p.Leu455Pro)
c.1196T>C (p.Leu399Pro)
c.2252T>C (p.Leu751Pro)
17g.42544201T>GCA399606410NAGLUc.2195T>G (p.Leu732Arg)
c.1364T>G (p.Leu455Arg)
c.1196T>G (p.Leu399Arg)
c.2252T>G (p.Leu751Arg)
17g.42544202C>ACA500218165NAGLUc.2196C>A (p.Leu732=)
c.1365C>A (p.Leu455=)
c.1197C>A (p.Leu399=)
c.2253C>A (p.Leu751=)
 gnomAD v4
17g.42544202C=CA2260530656NAGLUc.2196C= (p.Leu732=)
c.1365C= (p.Leu455=)
c.1197C= (p.Leu399=)
c.2253C= (p.Leu751=)
17g.42544202C>GCA500218174NAGLUc.2196C>G (p.Leu732=)
c.1365C>G (p.Leu455=)
c.1197C>G (p.Leu399=)
c.2253C>G (p.Leu751=)
17g.42544202C>TCA8577157NAGLUc.2196C>T (p.Leu732=)
c.1365C>T (p.Leu455=)
c.1197C>T (p.Leu399=)
c.2253C>T (p.Leu751=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42544203A>CCA399606412NAGLUc.2197A>C (p.Lys733Gln)
c.1366A>C (p.Lys456Gln)
c.1198A>C (p.Lys400Gln)
c.2254A>C (p.Lys752Gln)
17g.42544203A>GCA399606413NAGLUc.2197A>G (p.Lys733Glu)
c.1366A>G (p.Lys456Glu)
c.1198A>G (p.Lys400Glu)
c.2254A>G (p.Lys752Glu)
17g.42544203A>TCA399606414NAGLUc.2197A>T (p.Lys733Ter)
c.1366A>T (p.Lys456Ter)
c.1198A>T (p.Lys400Ter)
c.2254A>T (p.Lys752Ter)
17g.42544204A>CCA399606417NAGLUc.2198A>C (p.Lys733Thr)
c.1367A>C (p.Lys456Thr)
c.1199A>C (p.Lys400Thr)
c.2255A>C (p.Lys752Thr)
 gnomAD v4
17g.42544204A>GCA399606418NAGLUc.2198A>G (p.Lys733Arg)
c.1367A>G (p.Lys456Arg)
c.1199A>G (p.Lys400Arg)
c.2255A>G (p.Lys752Arg)
17g.42544204A>TCA399606420NAGLUc.2198A>T (p.Lys733Ile)
c.1367A>T (p.Lys456Ile)
c.1199A>T (p.Lys400Ile)
c.2255A>T (p.Lys752Ile)
17g.42544205A>CCA399606423NAGLUc.2199A>C (p.Lys733Asn)
c.1368A>C (p.Lys456Asn)
c.1200A>C (p.Lys400Asn)
c.2256A>C (p.Lys752Asn)
 gnomAD v4
17g.42544205A>GCA500218188NAGLUc.2199A>G (p.Lys733=)
c.1368A>G (p.Lys456=)
c.1200A>G (p.Lys400=)
c.2256A>G (p.Lys752=)
17g.42544205A>TCA399606426NAGLUc.2199A>T (p.Lys733Asn)
c.1368A>T (p.Lys456Asn)
c.1200A>T (p.Lys400Asn)
c.2256A>T (p.Lys752Asn)
17g.42544206T>ACA399606431NAGLUc.2200T>A (p.Tyr734Asn)
c.1369T>A (p.Tyr457Asn)
c.1201T>A (p.Tyr401Asn)
c.2257T>A (p.Tyr753Asn)
17g.42544206T>CCA399606432NAGLUc.2200T>C (p.Tyr734His)
c.1369T>C (p.Tyr457His)
c.1201T>C (p.Tyr401His)
c.2257T>C (p.Tyr753His)
17g.42544206T>GCA399606428NAGLUc.2200T>G (p.Tyr734Asp)
c.1369T>G (p.Tyr457Asp)
c.1201T>G (p.Tyr401Asp)
c.2257T>G (p.Tyr753Asp)
17g.42544206T=CA2260530657NAGLUc.2200T= (p.Tyr734=)
c.1369T= (p.Tyr457=)
c.1201T= (p.Tyr401=)
c.2257T= (p.Tyr753=)
17g.42544208_42544210dupCA2637976289NAGLUc.2202_2204dup (p.Tyr735_Pro736insTyr)
c.1371_1373dup (p.Tyr458_Pro459insTyr)
c.1203_1205dup (p.Tyr402_Pro403insTyr)
c.2259_2261dup (p.Tyr754_Pro755insTyr)
 gnomAD v4
17g.42544207A>CCA399606435NAGLUc.2201A>C (p.Tyr734Ser)
c.1370A>C (p.Tyr457Ser)
c.1202A>C (p.Tyr401Ser)
c.2258A>C (p.Tyr753Ser)
17g.42544207A>GCA399606437NAGLUc.2201A>G (p.Tyr734Cys)
c.1370A>G (p.Tyr457Cys)
c.1202A>G (p.Tyr401Cys)
c.2258A>G (p.Tyr753Cys)
 ClinVar dbSNP
17g.42544207A>TCA399606438NAGLUc.2201A>T (p.Tyr734Phe)
c.1370A>T (p.Tyr457Phe)
c.1202A>T (p.Tyr401Phe)
c.2258A>T (p.Tyr753Phe)
17g.42544207_42544210dupCA1139665543NAGLUc.2201_2204dup (p.Tyr735Ter)
c.1370_1373dup (p.Tyr458Ter)
c.1202_1205dup (p.Tyr402Ter)
c.2258_2261dup (p.Tyr754Ter)
 ClinVar dbSNP
17g.42544208T>ACA399606440NAGLUc.2202T>A (p.Tyr734Ter)
c.1371T>A (p.Tyr457Ter)
c.1203T>A (p.Tyr401Ter)
c.2259T>A (p.Tyr753Ter)
17g.42544208T>CCA500218213NAGLUc.2202T>C (p.Tyr734=)
c.1371T>C (p.Tyr457=)
c.1203T>C (p.Tyr401=)
c.2259T>C (p.Tyr753=)
17g.42544208T>GCA399606442NAGLUc.2202T>G (p.Tyr734Ter)
c.1371T>G (p.Tyr457Ter)
c.1203T>G (p.Tyr401Ter)
c.2259T>G (p.Tyr753Ter)
17g.42544209delCA2809525074NAGLUc.2203del (p.Tyr735ThrfsTer?)
c.1372del (p.Tyr458ThrfsTer?)
c.1204del (p.Tyr402ThrfsTer?)
c.2260del (p.Tyr754ThrfsTer?)
17g.42544209T>ACA399606449NAGLUc.2203T>A (p.Tyr735Asn)
c.1372T>A (p.Tyr458Asn)
c.1204T>A (p.Tyr402Asn)
c.2260T>A (p.Tyr754Asn)
17g.42544209T>CCA399606445NAGLUc.2203T>C (p.Tyr735His)
c.1372T>C (p.Tyr458His)
c.1204T>C (p.Tyr402His)
c.2260T>C (p.Tyr754His)
17g.42544209T>GCA399606446NAGLUc.2203T>G (p.Tyr735Asp)
c.1372T>G (p.Tyr458Asp)
c.1204T>G (p.Tyr402Asp)
c.2260T>G (p.Tyr754Asp)
17g.42544210A>CCA399606453NAGLUc.2204A>C (p.Tyr735Ser)
c.1373A>C (p.Tyr458Ser)
c.1205A>C (p.Tyr402Ser)
c.2261A>C (p.Tyr754Ser)
 gnomAD v3 gnomAD v4
17g.42544210A>GCA399606455NAGLUc.2204A>G (p.Tyr735Cys)
c.1373A>G (p.Tyr458Cys)
c.1205A>G (p.Tyr402Cys)
c.2261A>G (p.Tyr754Cys)
17g.42544210A>TCA399606456NAGLUc.2204A>T (p.Tyr735Phe)
c.1373A>T (p.Tyr458Phe)
c.1205A>T (p.Tyr402Phe)
c.2261A>T (p.Tyr754Phe)

Number of alleles fetched