| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42543344G>A | CA500216892 | NAGLU | c.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 |
| 17 | g.42543344G>C | CA399601937 | NAGLU | c.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) | |
| 17 | g.42543344G= | CA2260530225 | NAGLU | c.1338G= (p.Glu446=) c.676G= (n.676G=) c.377G= c.507G= (p.Glu169=) c.339G= (p.Glu113=) c.1395G= (p.Glu465=) | |
| 17 | g.42543344G>T | CA399601939 | NAGLU | c.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 |
| 17 | g.42543345G>A | CA399601940 | NAGLU | c.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) | |
| 17 | g.42543345G>C | CA399601941 | NAGLU | c.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) | |
| 17 | g.42543345G>T | CA399601943 | NAGLU | c.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) | |
| 17 | g.42543346G>A | CA399601946 | NAGLU | c.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) | |
| 17 | g.42543346G>C | CA399601947 | NAGLU | c.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) | |
| 17 | g.42543346G>T | CA399601949 | NAGLU | c.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) | |
| 17 | g.42543347C>A | CA500216894 | NAGLU | c.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=) | |
| 17 | g.42543347C>G | CA500216893 | NAGLU | c.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=) | |
| 17 | g.42543347C>T | CA500216895 | NAGLU | c.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=) | |
| 17 | g.42543348A>C | CA399601954 | NAGLU | c.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) | |
| 17 | g.42543348A>G | CA399601953 | NAGLU | c.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 |
| 17 | g.42543348A>T | CA399601951 | NAGLU | c.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) | |
| 17 | g.42543349T>A | CA399601955 | NAGLU | c.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) | |
| 17 | g.42543349T>C | CA399601957 | NAGLU | c.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 |
| 17 | g.42543349T>G | CA399601959 | NAGLU | c.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) | |
| 17 | g.42543350C>A | CA500216897 | NAGLU | c.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=) | |
| 17 | g.42543350C= | CA2260530226 | NAGLU | c.1344C= (p.Ile448=) c.682C= (n.682C=) c.383C= c.513C= (p.Ile171=) c.345C= (p.Ile115=) c.1401C= (p.Ile467=) | |
| 17 | g.42543350C>G | CA399601961 | NAGLU | c.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 |
| 17 | g.42543350C>T | CA500216896 | NAGLU | c.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 |
| 17 | g.42543351A>C | CA399601963 | NAGLU | c.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) | |
| 17 | g.42543351A>G | CA399601965 | NAGLU | c.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) | |
| 17 | g.42543351A>T | CA399601967 | NAGLU | c.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) | |
| 17 | g.42543352G>A | CA8577003 | NAGLU | c.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 |
| 17 | g.42543352G>C | CA399601969 | NAGLU | c.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) | |
| 17 | g.42543352G= | CA2260530227 | NAGLU | c.1346G= (p.Ser449=) c.684G= (n.684G=) c.385G= c.515G= (p.Ser172=) c.347G= (p.Ser116=) c.1403G= (p.Ser468=) | |
| 17 | g.42543352G>T | CA399601971 | NAGLU | c.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) | |
| 17 | g.42543353C>A | CA399601973 | NAGLU | c.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) | |
| 17 | g.42543353C>G | CA399601975 | NAGLU | c.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) | |
| 17 | g.42543353C>T | CA500216898 | NAGLU | c.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 |
| 17 | g.42543354C>A | CA399601980 | NAGLU | c.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) | |
| 17 | g.42543354C= | CA2260530228 | NAGLU | c.1348C= (p.Gln450=) c.686C= (n.686C=) c.387C= c.517C= (p.Gln173=) c.349C= (p.Gln117=) c.1405C= (p.Gln469=) | |
| 17 | g.42543354C>G | CA399601978 | NAGLU | c.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 |
| 17 | g.42543354C>T | CA399601977 | NAGLU | c.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 |
| 17 | g.42543355A>C | CA399601982 | NAGLU | c.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) | |
| 17 | g.42543355A>G | CA399601984 | NAGLU | c.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 |
| 17 | g.42543355A>T | CA399601986 | NAGLU | c.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) | |
| 17 | g.42543356G>A | CA8577004 | NAGLU | c.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 |
| 17 | g.42543356G>C | CA399601989 | NAGLU | c.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) | |
| 17 | g.42543356G= | CA2260530229 | NAGLU | c.1350G= (p.Gln450=) c.688G= (n.688G=) c.389G= c.519G= (p.Gln173=) c.351G= (p.Gln117=) c.1407G= (p.Gln469=) | |
| 17 | g.42543356G>T | CA399601991 | NAGLU | c.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 |
| 17 | g.42543356_42543357insCCCGC | CA919842926 | NAGLU | c.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 |
| 17 | g.42543357A= | CA2260530230 | NAGLU | c.1351A= (p.Asn451=) c.689A= (n.689A=) c.390A= c.520A= (p.Asn174=) c.352A= (p.Asn118=) c.1408A= (p.Asn470=) | |
| 17 | g.42543357A>C | CA399601997 | NAGLU | c.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) | |
| 17 | g.42543357A>G | CA399601996 | NAGLU | c.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) | |
| 17 | g.42543357A>T | CA399601994 | NAGLU | c.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) | |
| 17 | g.42543358dup | CA772114579 | NAGLU | c.1352dup (p.Asn451LysfsTer10) c.690dup (n.690dup) c.391dup c.521dup (p.Asn174LysfsTer10) c.353dup (p.Asn118LysfsTer10) c.1409dup (p.Asn470LysfsTer10) | dbSNP |
| 17 | g.42543357_42543358insC | CA919842927 | NAGLU | c.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 |
| 17 | g.42543358A>C | CA399602000 | NAGLU | c.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) | |
| 17 | g.42543358A>G | CA399602001 | NAGLU | c.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) | |
| 17 | g.42543358A>T | CA399602003 | NAGLU | c.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) | |
| 17 | g.42543359C>A | CA399602005 | NAGLU | c.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) | |
| 17 | g.42543359C= | CA2260530231 | NAGLU | c.1353C= (p.Asn451=) c.691C= (n.691C=) c.392C= c.522C= (p.Asn174=) c.354C= (p.Asn118=) c.1410C= (p.Asn470=) | |
| 17 | g.42543359C>G | CA399602007 | NAGLU | c.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) | |
| 17 | g.42543359C>T | CA8577005 | NAGLU | c.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 |
| 17 | g.42543359_42543360insCGCGTT | CA2260530232 | NAGLU | c.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 |
| 17 | g.42543360G>A | CA399602009 | NAGLU | c.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 |
| 17 | g.42543360G>C | CA399602013 | NAGLU | c.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) | |
| 17 | g.42543360G= | CA2260530233 | NAGLU | c.1354G= (p.Glu452=) c.692G= (n.692G=) c.393G= c.523G= (p.Glu175=) c.355G= (p.Glu119=) c.1411G= (p.Glu471=) | |
| 17 | g.42543360G>T | CA399602011 | NAGLU | c.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) | |
| 17 | g.42543361A= | CA2260530234 | NAGLU | c.1355A= (p.Glu452=) c.693A= (n.693A=) c.394A= c.524A= (p.Glu175=) c.356A= (p.Glu119=) c.1412A= (p.Glu471=) | |
| 17 | g.42543361A>C | CA399602016 | NAGLU | c.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 |
| 17 | g.42543361A>G | CA399602017 | NAGLU | c.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 |
| 17 | g.42543361A>T | CA399602021 | NAGLU | c.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) | |
| 17 | g.42543362A= | CA2260530235 | NAGLU | c.1356A= (p.Glu452=) c.694A= (n.694A=) c.395A= c.525A= (p.Glu175=) c.357A= (p.Glu119=) c.1413A= (p.Glu471=) | |
| 17 | g.42543362A>C | CA399602023 | NAGLU | c.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) | |
| 17 | g.42543362A>G | CA500216899 | NAGLU | c.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 |
| 17 | g.42543362A>T | CA399602024 | NAGLU | c.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) | |
| 17 | g.42543363G>A | CA399602025 | NAGLU | c.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) | |
| 17 | g.42543363G>C | CA399602027 | NAGLU | c.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) | |
| 17 | g.42543363G>T | CA399602029 | NAGLU | c.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) | |
| 17 | g.42543364T>A | CA399602031 | NAGLU | c.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) | |
| 17 | g.42543364T>C | CA399602033 | NAGLU | c.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) | |
| 17 | g.42543364T>G | CA399602035 | NAGLU | c.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) | |
| 17 | g.42543364dup | CA2809525049 | NAGLU | c.1358dup (p.Val454GlyfsTer7) c.696dup (n.696dup) c.397dup c.527dup (p.Val177GlyfsTer7) c.359dup (p.Val121GlyfsTer7) c.1415dup (p.Val473GlyfsTer7) | |
| 17 | g.42543364_42543365insTGCGGACACCGTC | CA2741537161 | NAGLU | c.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) | |
| 17 | g.42543364_42543365insATTTTTAGTAGAGACGGGGTTTCGCTATGTA | CA2637971193 | NAGLU | c.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 |
| 17 | g.42543365G>A | CA8577006 | NAGLU | c.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 |
| 17 | g.42543365G>C | CA500216900 | NAGLU | c.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 |
| 17 | g.42543365G= | CA2260530236 | NAGLU | c.1359G= (p.Val453=) c.697G= (n.697G=) c.398G= c.528G= (p.Val176=) c.360G= (p.Val120=) c.1416G= (p.Val472=) | |
| 17 | g.42543365G>T | CA500216901 | NAGLU | c.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 |
| 17 | g.42543365_42543366insCGGACACC | CA2809525051 | NAGLU | c.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) | |
| 17 | g.42543366G>A | CA399602040 | NAGLU | c.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 |
| 17 | g.42543366G>C | CA399602042 | NAGLU | c.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) | |
| 17 | g.42543366G= | CA2260530237 | NAGLU | c.1360G= (p.Val454=) c.698G= (n.698G=) c.399G= c.529G= (p.Val177=) c.361G= (p.Val121=) c.1417G= (p.Val473=) | |
| 17 | g.42543366G>T | CA8577007 | NAGLU | c.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 |
| 17 | g.42543366_42543369dup | CA645588247 | NAGLU | c.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 |
| 17 | g.42543367T>A | CA399602049 | NAGLU | c.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) | |
| 17 | g.42543367T>C | CA399602045 | NAGLU | c.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) | |
| 17 | g.42543367T>G | CA399602052 | NAGLU | c.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) | |
| 17 | g.42543367_42543368insG | CA2741537162 | NAGLU | c.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) | |
| 17 | g.42543368C>A | CA500216902 | NAGLU | c.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=) | |
| 17 | g.42543368C>G | CA500216903 | NAGLU | c.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=) | |
| 17 | g.42543368C>T | CA500216904 | NAGLU | c.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=) | |
| 17 | g.42543368_42543369insGG | CA2809525052 | NAGLU | c.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) | |
| 17 | g.42543369T>A | CA399602057 | NAGLU | c.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) | |
| 17 | g.42543369T>C | CA399602062 | NAGLU | c.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) | |
| 17 | g.42543369T>G | CA399602060 | NAGLU | c.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) | |
| 17 | g.42543369_42543370insGGCG | CA2741537163 | NAGLU | c.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) | |
| 17 | g.42543369_42543370insGCCGGTG | CA2809525053 | NAGLU | c.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) | |
| 17 | g.42543370A= | CA2260530238 | NAGLU | c.1364A= (p.Tyr455=) c.702A= (n.702A=) c.403A= c.533A= (p.Tyr178=) c.365A= (p.Tyr122=) c.1421A= (p.Tyr474=) | |
| 17 | g.42543370A>C | CA8577008 | NAGLU | c.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 |
| 17 | g.42543370A>G | CA220552 | NAGLU | c.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 |
| 17 | g.42543370A>T | CA399602066 | NAGLU | c.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) | |
| 17 | g.42543371T>A | CA399602070 | NAGLU | c.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) | |
| 17 | g.42543371T>C | CA500216905 | NAGLU | c.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=) | |
| 17 | g.42543371T>G | CA399602073 | NAGLU | c.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) | |
| 17 | g.42543372T>A | CA399602078 | NAGLU | c.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) | |
| 17 | g.42543372T>C | CA399602081 | NAGLU | c.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) | |
| 17 | g.42543372T>G | CA399602083 | NAGLU | c.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) | |
| 17 | g.42543373C>A | CA399602086 | NAGLU | c.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) | |
| 17 | g.42543373C= | CA2260530239 | NAGLU | c.1367C= (p.Ser456=) c.705C= (n.705C=) c.406C= c.536C= (p.Ser179=) c.368C= (p.Ser123=) c.1424C= (p.Ser475=) | |
| 17 | g.42543373C>G | CA399602090 | NAGLU | c.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) | |
| 17 | g.42543373C>T | CA8577009 | NAGLU | c.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 |
| 17 | g.42543374C>A | CA500216906 | NAGLU | c.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=) | |
| 17 | g.42543374C= | CA2260530240 | NAGLU | c.1368C= (p.Ser456=) c.706C= (n.706C=) c.407C= c.537C= (p.Ser179=) c.369C= (p.Ser123=) c.1425C= (p.Ser475=) | |
| 17 | g.42543374C>G | CA500216907 | NAGLU | c.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=) | |
| 17 | g.42543374C>T | CA8577010 | NAGLU | c.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 |
| 17 | g.42543375C>A | CA399602099 | NAGLU | c.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 |
| 17 | g.42543375C= | CA2260530241 | NAGLU | c.1369C= (p.Leu457=) c.707C= (n.707C=) c.408C= c.538C= (p.Leu180=) c.370C= (p.Leu124=) c.1426C= (p.Leu476=) | |
| 17 | g.42543375C>G | CA399602101 | NAGLU | c.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) | |
| 17 | g.42543375C>T | CA399602103 | NAGLU | c.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 |
| 17 | g.42543376T>A | CA399602106 | NAGLU | c.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) | |
| 17 | g.42543376T>C | CA399602108 | NAGLU | c.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) | |
| 17 | g.42543376T>G | CA399602110 | NAGLU | c.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) | |
| 17 | g.42543377C>A | CA500216908 | NAGLU | c.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=) | |
| 17 | g.42543377C= | CA2260530242 | NAGLU | c.1371C= (p.Leu457=) c.709C= (n.709C=) c.410C= c.540C= (p.Leu180=) c.372C= (p.Leu124=) c.1428C= (p.Leu476=) | |
| 17 | g.42543377C>G | CA500216909 | NAGLU | c.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 |
| 17 | g.42543377C>T | CA500216910 | NAGLU | c.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 |
| 17 | g.42543378A= | CA2260530243 | NAGLU | c.1372A= (p.Met458=) c.710A= (n.710A=) c.411A= c.541A= (p.Met181=) c.373A= (p.Met125=) c.1429A= (p.Met477=) | |
| 17 | g.42543378A>C | CA399602114 | NAGLU | c.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) | |
| 17 | g.42543378A>G | CA399602121 | NAGLU | c.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 |
| 17 | g.42543378A>T | CA399602116 | NAGLU | c.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 |
| 17 | g.42543379T>A | CA399602123 | NAGLU | c.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) | |
| 17 | g.42543379T>C | CA399602125 | NAGLU | c.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) | |
| 17 | g.42543379T>G | CA399602129 | NAGLU | c.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) | |
| 17 | g.42543380G>A | CA399602133 | NAGLU | c.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 |
| 17 | g.42543380G>C | CA399602134 | NAGLU | c.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) | |
| 17 | g.42543380G>T | CA399602137 | NAGLU | c.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) | |
| 17 | g.42543381G>A | CA399602141 | NAGLU | c.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 |
| 17 | g.42543381G>C | CA399602144 | NAGLU | c.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) | |
| 17 | g.42543381G>T | CA399602147 | NAGLU | c.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) | |
| 17 | g.42543382C>A | CA399602149 | NAGLU | c.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 |
| 17 | g.42543382C>G | CA399602150 | NAGLU | c.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) | |
| 17 | g.42543382C>T | CA399602151 | NAGLU | c.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 |
| 17 | g.42543383T>A | CA500216913 | NAGLU | c.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=) | |
| 17 | g.42543383T>C | CA500216911 | NAGLU | c.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 |
| 17 | g.42543383T>G | CA500216912 | NAGLU | c.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=) | |
| 17 | g.42543384G>A | CA399602153 | NAGLU | c.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) | |
| 17 | g.42543384G>C | CA399602158 | NAGLU | c.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 |
| 17 | g.42543384G= | CA2260530244 | NAGLU | c.1378G= (p.Glu460=) c.716G= (n.716G=) c.417G= c.547G= (p.Glu183=) c.379G= (p.Glu127=) c.1435G= (p.Glu479=) | |
| 17 | g.42543384G>T | CA399602155 | NAGLU | c.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 |
| 17 | g.42543385A>C | CA399602160 | NAGLU | c.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) | |
| 17 | g.42543385A>G | CA399602162 | NAGLU | c.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) | |
| 17 | g.42543385A>T | CA399602165 | NAGLU | c.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) | |
| 17 | g.42543386G>A | CA500216914 | NAGLU | c.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 |
| 17 | g.42543386G>C | CA399602167 | NAGLU | c.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) | |
| 17 | g.42543386G= | CA2260530245 | NAGLU | c.1380G= (p.Glu460=) c.718G= (n.718G=) c.419G= c.549G= (p.Glu183=) c.381G= (p.Glu127=) c.1437G= (p.Glu479=) | |
| 17 | g.42543386G>T | CA399602170 | NAGLU | c.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 |
| 17 | g.42543387C>A | CA399602172 | NAGLU | c.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) | |
| 17 | g.42543387C>G | CA399602175 | NAGLU | c.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) | |
| 17 | g.42543387C>T | CA500216915 | NAGLU | c.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 |
| 17 | g.42543388T>A | CA399602178 | NAGLU | c.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) | |
| 17 | g.42543388T>C | CA399602180 | NAGLU | c.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) | |
| 17 | g.42543388T>G | CA399602182 | NAGLU | c.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) | |
| 17 | g.42543389G>A | CA500216917 | NAGLU | c.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 |
| 17 | g.42543389G>C | CA500216916 | NAGLU | c.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=) | |
| 17 | g.42543389G>T | CA500216918 | NAGLU | c.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=) | |
| 17 | g.42543390G>A | CA399602186 | NAGLU | c.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) | |
| 17 | g.42543390G>C | CA8577011 | NAGLU | c.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 |
| 17 | g.42543390G= | CA2260530246 | NAGLU | c.1384G= (p.Gly462=) c.722G= (n.722G=) c.423G= c.553G= (p.Gly185=) c.385G= (p.Gly129=) c.1441G= (p.Gly481=) | |
| 17 | g.42543390G>T | CA399602195 | NAGLU | c.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 |
| 17 | g.42543391G>A | CA399602202 | NAGLU | c.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 |
| 17 | g.42543391G>C | CA399602199 | NAGLU | c.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) | |
| 17 | g.42543391G= | CA2260530247 | NAGLU | c.1385G= (p.Gly462=) c.723G= (n.723G=) c.424G= c.554G= (p.Gly185=) c.386G= (p.Gly129=) c.1442G= (p.Gly481=) | |
| 17 | g.42543391G>T | CA399602200 | NAGLU | c.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 |
| 17 | g.42543392C>A | CA500216919 | NAGLU | c.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=) | |
| 17 | g.42543392C= | CA2260530248 | NAGLU | c.1386C= (p.Gly462=) c.724C= (n.724C=) c.425C= c.555C= (p.Gly185=) c.387C= (p.Gly129=) c.1443C= (p.Gly481=) | |
| 17 | g.42543392C>G | CA500216920 | NAGLU | c.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 |
| 17 | g.42543392C>T | CA500216921 | NAGLU | c.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 |
| 17 | g.42543393T>A | CA399602205 | NAGLU | c.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) | |
| 17 | g.42543393T>C | CA290780451 | NAGLU | c.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 |
| 17 | g.42543393T>G | CA399602212 | NAGLU | c.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) | |
| 17 | g.42543393T= | CA2260530249 | NAGLU | c.1387T= (p.Trp463=) c.725T= (n.725T=) c.426T= c.556T= (p.Trp186=) c.388T= (p.Trp130=) c.1444T= (p.Trp482=) | |
| 17 | g.42543394G>A | CA399602216 | NAGLU | c.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) | |
| 17 | g.42543394G>C | CA399602218 | NAGLU | c.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) | |
| 17 | g.42543394G>T | CA399602220 | NAGLU | c.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 |
| 17 | g.42543395G>A | CA399602226 | NAGLU | c.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 |
| 17 | g.42543395G>C | CA399602227 | NAGLU | c.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 |
| 17 | g.42543395G>T | CA399602230 | NAGLU | c.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 |
| 17 | g.42543396C>A | CA500216922 | NAGLU | c.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 |
| 17 | g.42543396C= | CA2260530250 | NAGLU | c.1390C= (p.Arg464=) c.728C= (n.728C=) c.429C= c.559C= (p.Arg187=) c.391C= (p.Arg131=) c.1447C= (p.Arg483=) | |
| 17 | g.42543396C>G | CA399602233 | NAGLU | c.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) | |
| 17 | g.42543396C>T | CA8577012 | NAGLU | c.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 |
| 17 | g.42543397G>A | CA8577013 | NAGLU | c.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 |
| 17 | g.42543397G>C | CA399602242 | NAGLU | c.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 |
| 17 | g.42543397G= | CA2260530251 | NAGLU | c.1391G= (p.Arg464=) c.729G= (n.729G=) c.430G= c.560G= (p.Arg187=) c.392G= (p.Arg131=) c.1448G= (p.Arg483=) | |
| 17 | g.42543397G>T | CA399602239 | NAGLU | c.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) | |
| 17 | g.42543398A>C | CA500216923 | NAGLU | c.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=) | |
| 17 | g.42543398A>G | CA500216924 | NAGLU | c.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=) | |
| 17 | g.42543398A>T | CA500216925 | NAGLU | c.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=) | |
| 17 | g.42543399A= | CA2260530253 | NAGLU | c.1393A= (p.Lys465=) c.731A= (n.731A=) c.432A= c.562A= (p.Lys188=) c.394A= (p.Lys132=) c.1450A= (p.Lys484=) | |
| 17 | g.42543399A>C | CA399602246 | NAGLU | c.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) | |
| 17 | g.42543399A>G | CA290780459 | NAGLU | c.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 |
| 17 | g.42543399A>T | CA399602249 | NAGLU | c.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) | |
| 17 | g.42543399_42543402delinsAAGG | CA2260530252 | NAGLU | c.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=) | |
| 17 | g.42543400_42543403del | CA913012289 | NAGLU | c.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) | |
| 17 | g.42543400A>C | CA399602255 | NAGLU | c.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) | |
| 17 | g.42543400A>G | CA399602259 | NAGLU | c.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) | |
| 17 | g.42543400A>T | CA399602262 | NAGLU | c.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) | |
| 17 | g.42543401_42543403del | CA658823959 | NAGLU | c.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 |
| 17 | g.42543401G>A | CA8577014 | NAGLU | c.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 |
| 17 | g.42543401G>C | CA399602268 | NAGLU | c.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) | |
| 17 | g.42543401G= | CA2260530254 | NAGLU | c.1395G= (p.Lys465=) c.733G= (n.733G=) c.434G= c.564G= (p.Lys188=) c.396G= (p.Lys132=) c.1452G= (p.Lys484=) | |
| 17 | g.42543401G>T | CA399602270 | NAGLU | c.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 |
| 17 | g.42543402G>A | CA399602274 | NAGLU | c.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 |
| 17 | g.42543402G>C | CA399602276 | NAGLU | c.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) | |
| 17 | g.42543402G>T | CA399602279 | NAGLU | c.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 |
| 17 | g.42543403A>C | CA399602285 | NAGLU | c.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) | |
| 17 | g.42543403A>G | CA399602287 | NAGLU | c.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 |
| 17 | g.42543403A>T | CA399602290 | NAGLU | c.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) | |
| 17 | g.42543404C>A | CA399602293 | NAGLU | c.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) | |
| 17 | g.42543404C= | CA2260530255 | NAGLU | c.1398C= (p.Asp466=) c.736C= (n.736C=) c.437C= c.567C= (p.Asp189=) c.399C= (p.Asp133=) c.1455C= (p.Asp485=) | |
| 17 | g.42543404C>G | CA399602295 | NAGLU | c.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 |
| 17 | g.42543404C>T | CA500216926 | NAGLU | c.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=) | |
| 17 | g.42543405C>A | CA399602298 | NAGLU | c.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 |
| 17 | g.42543405C>G | CA399602300 | NAGLU | c.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) | |
| 17 | g.42543405C>T | CA399602302 | NAGLU | c.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 |
| 17 | g.42543406C>A | CA399602306 | NAGLU | c.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) | |
| 17 | g.42543406C>G | CA399602309 | NAGLU | c.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) | |
| 17 | g.42543406C>T | CA399602312 | NAGLU | c.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) | |
| 17 | g.42543407A= | CA2260530256 | NAGLU | c.1401A= (p.Pro467=) c.739A= (n.739A=) c.440A= c.570A= (p.Pro190=) c.402A= (p.Pro134=) c.1458A= (p.Pro486=) | |
| 17 | g.42543407A>C | CA500216927 | NAGLU | c.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=) | |
| 17 | g.42543407A>G | CA8577015 | NAGLU | c.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 |
| 17 | g.42543407A>T | CA500216928 | NAGLU | c.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=) | |
| 17 | g.42543408G>A | CA399602319 | NAGLU | c.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 |
| 17 | g.42543408G>C | CA399602321 | NAGLU | c.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) | |
| 17 | g.42543408G>T | CA399602325 | NAGLU | c.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 |
| 17 | g.42543408_42543409insGC | CA2576276091 | NAGLU | c.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) | |
| 17 | g.42543409T>A | CA399602334 | NAGLU | c.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) | |
| 17 | g.42543409T>C | CA399602331 | NAGLU | c.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) | |
| 17 | g.42543409T>G | CA399602329 | NAGLU | c.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) | |
| 17 | g.42543410G>A | CA500216930 | NAGLU | c.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=) | |
| 17 | g.42543410G>C | CA500216931 | NAGLU | c.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=) | |
| 17 | g.42543410G>T | CA500216929 | NAGLU | c.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 |
| 17 | g.42543411C>A | CA399602337 | NAGLU | c.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 |
| 17 | g.42543411C= | CA2260530257 | NAGLU | c.1405C= (p.Pro469=) c.743C= (n.743C=) c.444C= c.574C= (p.Pro192=) c.406C= (p.Pro136=) c.1462C= (p.Pro488=) | |
| 17 | g.42543411C>G | CA290780463 | NAGLU | c.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 |
| 17 | g.42543411C>T | CA399602341 | NAGLU | c.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 |
| 17 | g.42543412C>A | CA399602346 | NAGLU | c.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) | |
| 17 | g.42543412C= | CA2260530258 | NAGLU | c.1406C= (p.Pro469=) c.744C= (n.744C=) c.445C= c.575C= (p.Pro192=) c.407C= (p.Pro136=) c.1463C= (p.Pro488=) | |
| 17 | g.42543412C>G | CA399602348 | NAGLU | c.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) | |
| 17 | g.42543412C>T | CA399602351 | NAGLU | c.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 |
| 17 | g.42543413A= | CA2260530259 | NAGLU | c.1407A= (p.Pro469=) c.745A= (n.745A=) c.446A= c.576A= (p.Pro192=) c.408A= (p.Pro136=) c.1464A= (p.Pro488=) | |
| 17 | g.42543413A>C | CA500216933 | NAGLU | c.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=) | |
| 17 | g.42543413A>G | CA500216932 | NAGLU | c.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 |
| 17 | g.42543413A>T | CA500216934 | NAGLU | c.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 |
| 17 | g.42543414G>A | CA399602357 | NAGLU | c.1408G>A (p.Asp470Asn) c.746G>A (n.746G>A) c.447G>A c.577G>A (p.Asp193Asn) c.409G>A (p.Asp137Asn) c.1465G>A (p.Asp489Asn) | |
| 17 | g.42543414G>C | CA399602360 | NAGLU | c.1408G>C (p.Asp470His) c.746G>C (n.746G>C) c.447G>C c.577G>C (p.Asp193His) c.409G>C (p.Asp137His) c.1465G>C (p.Asp489His) | |
| 17 | g.42543414G>T | CA399602361 | NAGLU | c.1408G>T (p.Asp470Tyr) c.746G>T (n.746G>T) c.447G>T c.577G>T (p.Asp193Tyr) c.409G>T (p.Asp137Tyr) c.1465G>T (p.Asp489Tyr) | gnomAD v4 |
| 17 | g.42543415A= | CA2260530260 | NAGLU | c.1409A= (p.Asp470=) c.747A= (n.747A=) c.448A= c.578A= (p.Asp193=) c.410A= (p.Asp137=) c.1466A= (p.Asp489=) | |
| 17 | g.42543415A>C | CA399602362 | NAGLU | c.1409A>C (p.Asp470Ala) c.747A>C (n.747A>C) c.448A>C c.578A>C (p.Asp193Ala) c.410A>C (p.Asp137Ala) c.1466A>C (p.Asp489Ala) | |
| 17 | g.42543415A>G | CA399602363 | NAGLU | c.1409A>G (p.Asp470Gly) c.747A>G (n.747A>G) c.448A>G c.578A>G (p.Asp193Gly) c.410A>G (p.Asp137Gly) c.1466A>G (p.Asp489Gly) | dbSNP |
| 17 | g.42543415A>T | CA399602364 | NAGLU | c.1409A>T (p.Asp470Val) c.747A>T (n.747A>T) c.448A>T c.578A>T (p.Asp193Val) c.410A>T (p.Asp137Val) c.1466A>T (p.Asp489Val) | ClinVar |
| 17 | g.42543416T>A | CA399602368 | NAGLU | c.1410T>A (p.Asp470Glu) c.748T>A (n.748T>A) c.449T>A c.579T>A (p.Asp193Glu) c.411T>A (p.Asp137Glu) c.1467T>A (p.Asp489Glu) | |
| 17 | g.42543416T>C | CA500216935 | NAGLU | c.1410T>C (p.Asp470=) c.748T>C (n.748T>C) c.449T>C c.579T>C (p.Asp193=) c.411T>C (p.Asp137=) c.1467T>C (p.Asp489=) | gnomAD v4 |
| 17 | g.42543416T>G | CA399602366 | NAGLU | c.1410T>G (p.Asp470Glu) c.748T>G (n.748T>G) c.449T>G c.579T>G (p.Asp193Glu) c.411T>G (p.Asp137Glu) c.1467T>G (p.Asp489Glu) | |
| 17 | g.42543417T>A | CA399602373 | NAGLU | c.1411T>A (p.Leu471Met) c.749T>A (n.749T>A) c.450T>A c.580T>A (p.Leu194Met) c.412T>A (p.Leu138Met) c.1468T>A (p.Leu490Met) | |
| 17 | g.42543417T>C | CA500216936 | NAGLU | c.1411T>C (p.Leu471=) c.749T>C (n.749T>C) c.450T>C c.580T>C (p.Leu194=) c.412T>C (p.Leu138=) c.1468T>C (p.Leu490=) | |
| 17 | g.42543417T>G | CA399602375 | NAGLU | c.1411T>G (p.Leu471Val) c.749T>G (n.749T>G) c.450T>G c.580T>G (p.Leu194Val) c.412T>G (p.Leu138Val) c.1468T>G (p.Leu490Val) | |
| 17 | g.42543418T>A | CA399602378 | NAGLU | c.1412T>A (p.Leu471Ter) c.750T>A (n.750T>A) c.451T>A c.581T>A (p.Leu194Ter) c.413T>A (p.Leu138Ter) c.1469T>A (p.Leu490Ter) | gnomAD v4 |
| 17 | g.42543418T>C | CA399602381 | NAGLU | c.1412T>C (p.Leu471Ser) c.750T>C (n.750T>C) c.451T>C c.581T>C (p.Leu194Ser) c.413T>C (p.Leu138Ser) c.1469T>C (p.Leu490Ser) | |
| 17 | g.42543418T>G | CA399602383 | NAGLU | c.1412T>G (p.Leu471Trp) c.750T>G (n.750T>G) c.451T>G c.581T>G (p.Leu194Trp) c.413T>G (p.Leu138Trp) c.1469T>G (p.Leu490Trp) | |
| 17 | g.42543419G>A | CA500216937 | NAGLU | c.1413G>A (p.Leu471=) c.751G>A (n.751G>A) c.452G>A c.582G>A (p.Leu194=) c.414G>A (p.Leu138=) c.1470G>A (p.Leu490=) | |
| 17 | g.42543419G>C | CA399602385 | NAGLU | c.1413G>C (p.Leu471Phe) c.751G>C (n.751G>C) c.452G>C c.582G>C (p.Leu194Phe) c.414G>C (p.Leu138Phe) c.1470G>C (p.Leu490Phe) | |
| 17 | g.42543419G>T | CA399602388 | NAGLU | c.1413G>T (p.Leu471Phe) c.751G>T (n.751G>T) c.452G>T c.582G>T (p.Leu194Phe) c.414G>T (p.Leu138Phe) c.1470G>T (p.Leu490Phe) | gnomAD v4 |
| 17 | g.42543420G>A | CA399602392 | NAGLU | c.1414G>A (p.Ala472Thr) c.752G>A (n.752G>A) c.453G>A c.583G>A (p.Ala195Thr) c.415G>A (p.Ala139Thr) c.1471G>A (p.Ala491Thr) | gnomAD v4 |
| 17 | g.42543420G>C | CA399602394 | NAGLU | c.1414G>C (p.Ala472Pro) c.752G>C (n.752G>C) c.453G>C c.583G>C (p.Ala195Pro) c.415G>C (p.Ala139Pro) c.1471G>C (p.Ala491Pro) | |
| 17 | g.42543420G>T | CA399602398 | NAGLU | c.1414G>T (p.Ala472Ser) c.752G>T (n.752G>T) c.453G>T c.583G>T (p.Ala195Ser) c.415G>T (p.Ala139Ser) c.1471G>T (p.Ala491Ser) | gnomAD v4 |
| 17 | g.42543421C>A | CA399602403 | NAGLU | c.1415C>A (p.Ala472Glu) c.753C>A (n.753C>A) c.454C>A c.584C>A (p.Ala195Glu) c.416C>A (p.Ala139Glu) c.1472C>A (p.Ala491Glu) | gnomAD v4 |
| 17 | g.42543421C= | CA2260530261 | NAGLU | c.1415C= (p.Ala472=) c.753C= (n.753C=) c.454C= c.584C= (p.Ala195=) c.416C= (p.Ala139=) c.1472C= (p.Ala491=) | |
| 17 | g.42543421C>G | CA399602405 | NAGLU | c.1415C>G (p.Ala472Gly) c.753C>G (n.753C>G) c.454C>G c.584C>G (p.Ala195Gly) c.416C>G (p.Ala139Gly) c.1472C>G (p.Ala491Gly) | gnomAD v4 |
| 17 | g.42543421C>T | CA290780471 | NAGLU | c.1415C>T (p.Ala472Val) c.753C>T (n.753C>T) c.454C>T c.584C>T (p.Ala195Val) c.416C>T (p.Ala139Val) c.1472C>T (p.Ala491Val) | dbSNP gnomAD v4 |
| 17 | g.42543422A= | CA2260530262 | NAGLU | c.1416A= (p.Ala472=) c.754A= (n.754A=) c.455A= c.585A= (p.Ala195=) c.417A= (p.Ala139=) c.1473A= (p.Ala491=) | |
| 17 | g.42543422A>C | CA500216939 | NAGLU | c.1416A>C (p.Ala472=) c.754A>C (n.754A>C) c.455A>C c.585A>C (p.Ala195=) c.417A>C (p.Ala139=) c.1473A>C (p.Ala491=) | |
| 17 | g.42543422A>G | CA500216940 | NAGLU | c.1416A>G (p.Ala472=) c.754A>G (n.754A>G) c.455A>G c.585A>G (p.Ala195=) c.417A>G (p.Ala139=) c.1473A>G (p.Ala491=) | dbSNP |
| 17 | g.42543422A>T | CA500216938 | NAGLU | c.1416A>T (p.Ala472=) c.754A>T (n.754A>T) c.455A>T c.585A>T (p.Ala195=) c.417A>T (p.Ala139=) c.1473A>T (p.Ala491=) | |
| 17 | g.42543423G>A | CA399602414 | NAGLU | c.1417G>A (p.Ala473Thr) c.755G>A (n.755G>A) c.456G>A c.586G>A (p.Ala196Thr) c.418G>A (p.Ala140Thr) c.1474G>A (p.Ala492Thr) | gnomAD v4 |
| 17 | g.42543423G>C | CA399602418 | NAGLU | c.1417G>C (p.Ala473Pro) c.755G>C (n.755G>C) c.456G>C c.586G>C (p.Ala196Pro) c.418G>C (p.Ala140Pro) c.1474G>C (p.Ala492Pro) | |
| 17 | g.42543423G>T | CA399602412 | NAGLU | c.1417G>T (p.Ala473Ser) c.755G>T (n.755G>T) c.456G>T c.586G>T (p.Ala196Ser) c.418G>T (p.Ala140Ser) c.1474G>T (p.Ala492Ser) | gnomAD v4 |
| 17 | g.42543423_42543424del | CA2576276092 | NAGLU | c.1417_1418del (p.Ala473LeufsTer?) c.755_756del (n.755_756del) c.456_457del c.586_587del (p.Ala196LeufsTer?) c.418_419del (p.Ala140LeufsTer?) c.1474_1475del (p.Ala492LeufsTer?) | |
| 17 | g.42543424C>A | CA399602427 | NAGLU | c.1418C>A (p.Ala473Asp) c.756C>A (n.756C>A) c.457C>A c.587C>A (p.Ala196Asp) c.419C>A (p.Ala140Asp) c.1475C>A (p.Ala492Asp) | gnomAD v4 |
| 17 | g.42543424C>G | CA399602423 | NAGLU | c.1418C>G (p.Ala473Gly) c.756C>G (n.756C>G) c.457C>G c.587C>G (p.Ala196Gly) c.419C>G (p.Ala140Gly) c.1475C>G (p.Ala492Gly) | |
| 17 | g.42543424C>T | CA399602428 | NAGLU | c.1418C>T (p.Ala473Val) c.756C>T (n.756C>T) c.457C>T c.587C>T (p.Ala196Val) c.419C>T (p.Ala140Val) c.1475C>T (p.Ala492Val) | gnomAD v4 |
| 17 | g.42543425C>A | CA500216941 | NAGLU | c.1419C>A (p.Ala473=) c.757C>A (n.757C>A) c.458C>A c.588C>A (p.Ala196=) c.420C>A (p.Ala140=) c.1476C>A (p.Ala492=) | gnomAD v4 |
| 17 | g.42543425C>G | CA500216942 | NAGLU | c.1419C>G (p.Ala473=) c.757C>G (n.757C>G) c.458C>G c.588C>G (p.Ala196=) c.420C>G (p.Ala140=) c.1476C>G (p.Ala492=) | |
| 17 | g.42543425C>T | CA500216943 | NAGLU | c.1419C>T (p.Ala473=) c.757C>T (n.757C>T) c.458C>T c.588C>T (p.Ala196=) c.420C>T (p.Ala140=) c.1476C>T (p.Ala492=) | |
| 17 | g.42543426T>A | CA399602432 | NAGLU | c.1420T>A (p.Trp474Arg) c.758T>A (n.758T>A) c.459T>A c.589T>A (p.Trp197Arg) c.421T>A (p.Trp141Arg) c.1477T>A (p.Trp493Arg) | |
| 17 | g.42543426T>C | CA399602434 | NAGLU | c.1420T>C (p.Trp474Arg) c.758T>C (n.758T>C) c.459T>C c.589T>C (p.Trp197Arg) c.421T>C (p.Trp141Arg) c.1477T>C (p.Trp493Arg) | |
| 17 | g.42543426T>G | CA399602436 | NAGLU | c.1420T>G (p.Trp474Gly) c.758T>G (n.758T>G) c.459T>G c.589T>G (p.Trp197Gly) c.421T>G (p.Trp141Gly) c.1477T>G (p.Trp493Gly) | gnomAD v4 |
| 17 | g.42543427G>A | CA399602439 | NAGLU | c.1421G>A (p.Trp474Ter) c.759G>A (n.759G>A) c.460G>A c.590G>A (p.Trp197Ter) c.422G>A (p.Trp141Ter) c.1478G>A (p.Trp493Ter) | ClinVar dbSNP |
| 17 | g.42543427G>C | CA399602440 | NAGLU | c.1421G>C (p.Trp474Ser) c.759G>C (n.759G>C) c.460G>C c.590G>C (p.Trp197Ser) c.422G>C (p.Trp141Ser) c.1478G>C (p.Trp493Ser) | |
| 17 | g.42543427G= | CA2260530263 | NAGLU | c.1421G= (p.Trp474=) c.759G= (n.759G=) c.460G= c.590G= (p.Trp197=) c.422G= (p.Trp141=) c.1478G= (p.Trp493=) | |
| 17 | g.42543427G>T | CA399602442 | NAGLU | c.1421G>T (p.Trp474Leu) c.759G>T (n.759G>T) c.460G>T c.590G>T (p.Trp197Leu) c.422G>T (p.Trp141Leu) c.1478G>T (p.Trp493Leu) | gnomAD v4 |
| 17 | g.42543428G>A | CA399602446 | NAGLU | c.1422G>A (p.Trp474Ter) c.760G>A (n.760G>A) c.461G>A c.591G>A (p.Trp197Ter) c.423G>A (p.Trp141Ter) c.1479G>A (p.Trp493Ter) | gnomAD v4 |
| 17 | g.42543428G>C | CA399602448 | NAGLU | c.1422G>C (p.Trp474Cys) c.760G>C (n.760G>C) c.461G>C c.591G>C (p.Trp197Cys) c.423G>C (p.Trp141Cys) c.1479G>C (p.Trp493Cys) | |
| 17 | g.42543428G>T | CA399602449 | NAGLU | c.1422G>T (p.Trp474Cys) c.760G>T (n.760G>T) c.461G>T c.591G>T (p.Trp197Cys) c.423G>T (p.Trp141Cys) c.1479G>T (p.Trp493Cys) | gnomAD v4 |
| 17 | g.42543429G>A | CA399602453 | NAGLU | c.1423G>A (p.Val475Met) c.761G>A (n.761G>A) c.462G>A c.592G>A (p.Val198Met) c.424G>A (p.Val142Met) c.1480G>A (p.Val494Met) | gnomAD v4 |
| 17 | g.42543429G>C | CA399602456 | NAGLU | c.1423G>C (p.Val475Leu) c.761G>C (n.761G>C) c.462G>C c.592G>C (p.Val198Leu) c.424G>C (p.Val142Leu) c.1480G>C (p.Val494Leu) | |
| 17 | g.42543429G>T | CA399602458 | NAGLU | c.1423G>T (p.Val475Leu) c.761G>T (n.761G>T) c.462G>T c.592G>T (p.Val198Leu) c.424G>T (p.Val142Leu) c.1480G>T (p.Val494Leu) | |
| 17 | g.42543430_42543431del | CA913012290 | NAGLU | c.1424_1425del (p.Val475AspfsTer?) c.762_763del (n.762_763del) c.463_464del c.593_594del (p.Val198AspfsTer?) c.425_426del (p.Val142AspfsTer?) c.1481_1482del (p.Val494AspfsTer?) | |
| 17 | g.42543430T>A | CA399602467 | NAGLU | c.1424T>A (p.Val475Glu) c.762T>A (n.762T>A) c.463T>A c.593T>A (p.Val198Glu) c.425T>A (p.Val142Glu) c.1481T>A (p.Val494Glu) | |
| 17 | g.42543430T>C | CA399602462 | NAGLU | c.1424T>C (p.Val475Ala) c.762T>C (n.762T>C) c.463T>C c.593T>C (p.Val198Ala) c.425T>C (p.Val142Ala) c.1481T>C (p.Val494Ala) | |
| 17 | g.42543430T>G | CA399602464 | NAGLU | c.1424T>G (p.Val475Gly) c.762T>G (n.762T>G) c.463T>G c.593T>G (p.Val198Gly) c.425T>G (p.Val142Gly) c.1481T>G (p.Val494Gly) | dbSNP |
| 17 | g.42543430T= | CA2260530265 | NAGLU | c.1424T= (p.Val475=) c.762T= (n.762T=) c.463T= c.593T= (p.Val198=) c.425T= (p.Val142=) c.1481T= (p.Val494=) | |
| 17 | g.42543430_42543431delinsTG | CA2260530264 | NAGLU | c.1424_1425delinsTG (p.Val475=) c.762_763delinsTG (n.762_763delinsTG) c.463_464delinsTG c.593_594delinsTG (p.Val198=) c.425_426delinsTG (p.Val142=) c.1481_1482delinsTG (p.Val494=) | |
| 17 | g.42543431del | CA626218622 | NAGLU | c.1425del (p.Thr476ProfsTer?) c.763del (n.763del) c.464del c.594del (p.Thr199ProfsTer?) c.426del (p.Thr143ProfsTer?) c.1482del (p.Thr495ProfsTer?) | ClinVar dbSNP gnomAD v2 |
| 17 | g.42543431G>A | CA500216946 | NAGLU | c.1425G>A (p.Val475=) c.763G>A (n.763G>A) c.464G>A c.594G>A (p.Val198=) c.426G>A (p.Val142=) c.1482G>A (p.Val494=) | dbSNP |
| 17 | g.42543431G>C | CA500216944 | NAGLU | c.1425G>C (p.Val475=) c.763G>C (n.763G>C) c.464G>C c.594G>C (p.Val198=) c.426G>C (p.Val142=) c.1482G>C (p.Val494=) | gnomAD v4 |
| 17 | g.42543431G= | CA2260530266 | NAGLU | c.1425G= (p.Val475=) c.763G= (n.763G=) c.464G= c.594G= (p.Val198=) c.426G= (p.Val142=) c.1482G= (p.Val494=) | |
| 17 | g.42543431G>T | CA500216945 | NAGLU | c.1425G>T (p.Val475=) c.763G>T (n.763G>T) c.464G>T c.594G>T (p.Val198=) c.426G>T (p.Val142=) c.1482G>T (p.Val494=) | gnomAD v4 |
| 17 | g.42543432A>C | CA399602470 | NAGLU | c.1426A>C (p.Thr476Pro) c.764A>C (n.764A>C) c.465A>C c.595A>C (p.Thr199Pro) c.427A>C (p.Thr143Pro) c.1483A>C (p.Thr495Pro) | |
| 17 | g.42543432A>G | CA399602472 | NAGLU | c.1426A>G (p.Thr476Ala) c.764A>G (n.764A>G) c.465A>G c.595A>G (p.Thr199Ala) c.427A>G (p.Thr143Ala) c.1483A>G (p.Thr495Ala) | gnomAD v4 |
| 17 | g.42543432A>T | CA399602475 | NAGLU | c.1426A>T (p.Thr476Ser) c.764A>T (n.764A>T) c.465A>T c.595A>T (p.Thr199Ser) c.427A>T (p.Thr143Ser) c.1483A>T (p.Thr495Ser) | gnomAD v4 |
| 17 | g.42543433C>A | CA399602478 | NAGLU | c.1427C>A (p.Thr476Asn) c.765C>A (n.765C>A) c.466C>A c.596C>A (p.Thr199Asn) c.428C>A (p.Thr143Asn) c.1484C>A (p.Thr495Asn) | |
| 17 | g.42543433C>G | CA399602479 | NAGLU | c.1427C>G (p.Thr476Ser) c.765C>G (n.765C>G) c.466C>G c.596C>G (p.Thr199Ser) c.428C>G (p.Thr143Ser) c.1484C>G (p.Thr495Ser) | |
| 17 | g.42543433C>T | CA399602481 | NAGLU | c.1427C>T (p.Thr476Ile) c.765C>T (n.765C>T) c.466C>T c.596C>T (p.Thr199Ile) c.428C>T (p.Thr143Ile) c.1484C>T (p.Thr495Ile) | |
| 17 | g.42543434C>A | CA500216948 | NAGLU | c.1428C>A (p.Thr476=) c.766C>A (n.766C>A) c.467C>A c.597C>A (p.Thr199=) c.429C>A (p.Thr143=) c.1485C>A (p.Thr495=) | |
| 17 | g.42543434C>G | CA500216949 | NAGLU | c.1428C>G (p.Thr476=) c.766C>G (n.766C>G) c.467C>G c.597C>G (p.Thr199=) c.429C>G (p.Thr143=) c.1485C>G (p.Thr495=) | |
| 17 | g.42543434C>T | CA500216947 | NAGLU | c.1428C>T (p.Thr476=) c.766C>T (n.766C>T) c.467C>T c.597C>T (p.Thr199=) c.429C>T (p.Thr143=) c.1485C>T (p.Thr495=) | gnomAD v4 |
| 17 | g.42543435A= | CA2260530267 | NAGLU | c.1429A= (p.Ser477=) c.767A= (n.767A=) c.468A= c.598A= (p.Ser200=) c.430A= (p.Ser144=) c.1486A= (p.Ser496=) | |
| 17 | g.42543435A>C | CA399602484 | NAGLU | c.1429A>C (p.Ser477Arg) c.767A>C (n.767A>C) c.468A>C c.598A>C (p.Ser200Arg) c.430A>C (p.Ser144Arg) c.1486A>C (p.Ser496Arg) | gnomAD v4 |
| 17 | g.42543435A>G | CA399602485 | NAGLU | c.1429A>G (p.Ser477Gly) c.767A>G (n.767A>G) c.468A>G c.598A>G (p.Ser200Gly) c.430A>G (p.Ser144Gly) c.1486A>G (p.Ser496Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543435A>T | CA399602487 | NAGLU | c.1429A>T (p.Ser477Cys) c.767A>T (n.767A>T) c.468A>T c.598A>T (p.Ser200Cys) c.430A>T (p.Ser144Cys) c.1486A>T (p.Ser496Cys) | |
| 17 | g.42543436G>A | CA399602489 | NAGLU | c.1430G>A (p.Ser477Asn) c.768G>A (n.768G>A) c.469G>A c.599G>A (p.Ser200Asn) c.431G>A (p.Ser144Asn) c.1487G>A (p.Ser496Asn) | gnomAD v4 |
| 17 | g.42543436G>C | CA8577016 | NAGLU | c.1430G>C (p.Ser477Thr) c.768G>C (n.768G>C) c.469G>C c.599G>C (p.Ser200Thr) c.431G>C (p.Ser144Thr) c.1487G>C (p.Ser496Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543436G= | CA2260530268 | NAGLU | c.1430G= (p.Ser477=) c.768G= (n.768G=) c.469G= c.599G= (p.Ser200=) c.431G= (p.Ser144=) c.1487G= (p.Ser496=) | |
| 17 | g.42543436G>T | CA399602491 | NAGLU | c.1430G>T (p.Ser477Ile) c.768G>T (n.768G>T) c.469G>T c.599G>T (p.Ser200Ile) c.431G>T (p.Ser144Ile) c.1487G>T (p.Ser496Ile) | gnomAD v4 |
| 17 | g.42543437C>A | CA399602496 | NAGLU | c.1431C>A (p.Ser477Arg) c.769C>A (n.769C>A) c.470C>A c.600C>A (p.Ser200Arg) c.432C>A (p.Ser144Arg) c.1488C>A (p.Ser496Arg) | gnomAD v4 |
| 17 | g.42543437C>G | CA399602494 | NAGLU | c.1431C>G (p.Ser477Arg) c.769C>G (n.769C>G) c.470C>G c.600C>G (p.Ser200Arg) c.432C>G (p.Ser144Arg) c.1488C>G (p.Ser496Arg) | |
| 17 | g.42543437C>T | CA500216950 | NAGLU | c.1431C>T (p.Ser477=) c.769C>T (n.769C>T) c.470C>T c.600C>T (p.Ser200=) c.432C>T (p.Ser144=) c.1488C>T (p.Ser496=) | ClinVar gnomAD v4 |
| 17 | g.42543438T>A | CA399602498 | NAGLU | c.1432T>A (p.Phe478Ile) c.770T>A (n.770T>A) c.471T>A c.601T>A (p.Phe201Ile) c.433T>A (p.Phe145Ile) c.1489T>A (p.Phe497Ile) | |
| 17 | g.42543438T>C | CA399602499 | NAGLU | c.1432T>C (p.Phe478Leu) c.770T>C (n.770T>C) c.471T>C c.601T>C (p.Phe201Leu) c.433T>C (p.Phe145Leu) c.1489T>C (p.Phe497Leu) | |
| 17 | g.42543438T>G | CA399602501 | NAGLU | c.1432T>G (p.Phe478Val) c.770T>G (n.770T>G) c.471T>G c.601T>G (p.Phe201Val) c.433T>G (p.Phe145Val) c.1489T>G (p.Phe497Val) | |
| 17 | g.42543439T>A | CA399602504 | NAGLU | c.1433T>A (p.Phe478Tyr) c.771T>A (n.771T>A) c.472T>A c.602T>A (p.Phe201Tyr) c.434T>A (p.Phe145Tyr) c.1490T>A (p.Phe497Tyr) | |
| 17 | g.42543439T>C | CA399602505 | NAGLU | c.1433T>C (p.Phe478Ser) c.771T>C (n.771T>C) c.472T>C c.602T>C (p.Phe201Ser) c.434T>C (p.Phe145Ser) c.1490T>C (p.Phe497Ser) | |
| 17 | g.42543439T>G | CA399602506 | NAGLU | c.1433T>G (p.Phe478Cys) c.771T>G (n.771T>G) c.472T>G c.602T>G (p.Phe201Cys) c.434T>G (p.Phe145Cys) c.1490T>G (p.Phe497Cys) | |
| 17 | g.42543440T>A | CA399602507 | NAGLU | c.1434T>A (p.Phe478Leu) c.772T>A (n.772T>A) c.473T>A c.603T>A (p.Phe201Leu) c.435T>A (p.Phe145Leu) c.1491T>A (p.Phe497Leu) | |
| 17 | g.42543440T>C | CA500216951 | NAGLU | c.1434T>C (p.Phe478=) c.772T>C (n.772T>C) c.473T>C c.603T>C (p.Phe201=) c.435T>C (p.Phe145=) c.1491T>C (p.Phe497=) | |
| 17 | g.42543440T>G | CA399602508 | NAGLU | c.1434T>G (p.Phe478Leu) c.772T>G (n.772T>G) c.473T>G c.603T>G (p.Phe201Leu) c.435T>G (p.Phe145Leu) c.1491T>G (p.Phe497Leu) | |
| 17 | g.42543441G>A | CA8577017 | NAGLU | c.1435G>A (p.Ala479Thr) c.773G>A (n.773G>A) c.474G>A c.604G>A (p.Ala202Thr) c.436G>A (p.Ala146Thr) c.1492G>A (p.Ala498Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543441G>C | CA399602509 | NAGLU | c.1435G>C (p.Ala479Pro) c.773G>C (n.773G>C) c.474G>C c.604G>C (p.Ala202Pro) c.436G>C (p.Ala146Pro) c.1492G>C (p.Ala498Pro) | |
| 17 | g.42543441G= | CA2260530269 | NAGLU | c.1435G= (p.Ala479=) c.773G= (n.773G=) c.474G= c.604G= (p.Ala202=) c.436G= (p.Ala146=) c.1492G= (p.Ala498=) | |
| 17 | g.42543441G>T | CA399602510 | NAGLU | c.1435G>T (p.Ala479Ser) c.773G>T (n.773G>T) c.474G>T c.604G>T (p.Ala202Ser) c.436G>T (p.Ala146Ser) c.1492G>T (p.Ala498Ser) | gnomAD v4 |
| 17 | g.42543442C>A | CA399602511 | NAGLU | c.1436C>A (p.Ala479Asp) c.774C>A (n.774C>A) c.475C>A c.605C>A (p.Ala202Asp) c.437C>A (p.Ala146Asp) c.1493C>A (p.Ala498Asp) | |
| 17 | g.42543442C= | CA2260530270 | NAGLU | c.1436C= (p.Ala479=) c.774C= (n.774C=) c.475C= c.605C= (p.Ala202=) c.437C= (p.Ala146=) c.1493C= (p.Ala498=) | |
| 17 | g.42543442C>G | CA399602512 | NAGLU | c.1436C>G (p.Ala479Gly) c.774C>G (n.774C>G) c.475C>G c.605C>G (p.Ala202Gly) c.437C>G (p.Ala146Gly) c.1493C>G (p.Ala498Gly) | |
| 17 | g.42543442C>T | CA399602513 | NAGLU | c.1436C>T (p.Ala479Val) c.774C>T (n.774C>T) c.475C>T c.605C>T (p.Ala202Val) c.437C>T (p.Ala146Val) c.1493C>T (p.Ala498Val) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543443C>A | CA500216952 | NAGLU | c.1437C>A (p.Ala479=) c.775C>A (n.775C>A) c.476C>A c.606C>A (p.Ala202=) c.438C>A (p.Ala146=) c.1494C>A (p.Ala498=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42543443C= | CA2260530272 | NAGLU | c.1437C= (p.Ala479=) c.775C= (n.775C=) c.476C= c.606C= (p.Ala202=) c.438C= (p.Ala146=) c.1494C= (p.Ala498=) | |
| 17 | g.42543443C>G | CA500216953 | NAGLU | c.1437C>G (p.Ala479=) c.775C>G (n.775C>G) c.476C>G c.606C>G (p.Ala202=) c.438C>G (p.Ala146=) c.1494C>G (p.Ala498=) | |
| 17 | g.42543443C>T | CA8577018 | NAGLU | c.1437C>T (p.Ala479=) c.775C>T (n.775C>T) c.476C>T c.606C>T (p.Ala202=) c.438C>T (p.Ala146=) c.1494C>T (p.Ala498=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543443_42543453del | CA913012291 | NAGLU | c.1437_1447del (p.Ala480TrpfsTer?) c.775_785del (n.775_785del) c.476_486del c.606_616del (p.Ala203TrpfsTer?) c.438_448del (p.Ala147TrpfsTer?) c.1494_1504del (p.Ala499TrpfsTer?) | |
| 17 | g.42543443_42543453delinsCGCCCGGCGGT | CA2260530271 | NAGLU | c.1437_1447delinsCGCCCGGCGGT (p.Ala479=) c.775_785delinsCGCCCGGCGGT (n.775_785delinsCGCCCGGCGGT) c.476_486delinsCGCCCGGCGGT c.606_616delinsCGCCCGGCGGT (p.Ala202=) c.438_448delinsCGCCCGGCGGT (p.Ala146=) c.1494_1504delinsCGCCCGGCGGT (p.Ala498=) | |
| 17 | g.42543444G>A | CA8577019 | NAGLU | c.1438G>A (p.Ala480Thr) c.776G>A (n.776G>A) c.477G>A c.607G>A (p.Ala203Thr) c.439G>A (p.Ala147Thr) c.1495G>A (p.Ala499Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543444G>C | CA399602514 | NAGLU | c.1438G>C (p.Ala480Pro) c.776G>C (n.776G>C) c.477G>C c.607G>C (p.Ala203Pro) c.439G>C (p.Ala147Pro) c.1495G>C (p.Ala499Pro) | |
| 17 | g.42543444G= | CA2260530273 | NAGLU | c.1438G= (p.Ala480=) c.776G= (n.776G=) c.477G= c.607G= (p.Ala203=) c.439G= (p.Ala147=) c.1495G= (p.Ala499=) | |
| 17 | g.42543444G>T | CA399602515 | NAGLU | c.1438G>T (p.Ala480Ser) c.776G>T (n.776G>T) c.477G>T c.607G>T (p.Ala203Ser) c.439G>T (p.Ala147Ser) c.1495G>T (p.Ala499Ser) | dbSNP gnomAD v4 |
| 17 | g.42543444_42543453del | CA658823961 | NAGLU | c.1438_1447del (p.Ala480MetfsTer?) c.776_785del (n.776_785del) c.477_486del c.607_616del (p.Ala203MetfsTer?) c.439_448del (p.Ala147MetfsTer?) c.1495_1504del (p.Ala499MetfsTer?) | ClinVar dbSNP |