| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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 |
| 17 | g.42543450C>A | CA500216961 | NAGLU | c.1444C>A (p.Arg482=) c.782C>A (n.782C>A) c.483C>A c.613C>A (p.Arg205=) c.445C>A (p.Arg149=) c.1501C>A (p.Arg501=) | dbSNP gnomAD v4 |
| 17 | g.42543450C= | CA2260530278 | NAGLU | c.1444C= (p.Arg482=) c.782C= (n.782C=) c.483C= c.613C= (p.Arg205=) c.445C= (p.Arg149=) c.1501C= (p.Arg501=) | |
| 17 | g.42543450C>G | CA399602521 | NAGLU | c.1444C>G (p.Arg482Gly) c.782C>G (n.782C>G) c.483C>G c.613C>G (p.Arg205Gly) c.445C>G (p.Arg149Gly) c.1501C>G (p.Arg501Gly) | |
| 17 | g.42543450C>T | CA115054 | NAGLU | c.1444C>T (p.Arg482Trp) c.782C>T (n.782C>T) c.483C>T c.613C>T (p.Arg205Trp) c.445C>T (p.Arg149Trp) c.1501C>T (p.Arg501Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543451G>A | CA8577022 | NAGLU | c.1445G>A (p.Arg482Gln) c.783G>A (n.783G>A) c.484G>A c.614G>A (p.Arg205Gln) c.446G>A (p.Arg149Gln) c.1502G>A (p.Arg501Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543451G>C | CA399602523 | NAGLU | c.1445G>C (p.Arg482Pro) c.783G>C (n.783G>C) c.484G>C c.614G>C (p.Arg205Pro) c.446G>C (p.Arg149Pro) c.1502G>C (p.Arg501Pro) | |
| 17 | g.42543451G= | CA2260530279 | NAGLU | c.1445G= (p.Arg482=) c.783G= (n.783G=) c.484G= c.614G= (p.Arg205=) c.446G= (p.Arg149=) c.1502G= (p.Arg501=) | |
| 17 | g.42543451G>T | CA399602522 | NAGLU | c.1445G>T (p.Arg482Leu) c.783G>T (n.783G>T) c.484G>T c.614G>T (p.Arg205Leu) c.446G>T (p.Arg149Leu) c.1502G>T (p.Arg501Leu) | gnomAD v4 |
| 17 | g.42543452dup | CA913012292 | NAGLU | c.1446dup (p.Tyr483ValfsTer?) c.784dup (n.784dup) c.485dup c.615dup (p.Tyr206ValfsTer?) c.447dup (p.Tyr150ValfsTer?) c.1503dup (p.Tyr502ValfsTer?) | |
| 17 | g.42543452G>A | CA8577023 | NAGLU | c.1446G>A (p.Arg482=) c.784G>A (n.784G>A) c.485G>A c.615G>A (p.Arg205=) c.447G>A (p.Arg149=) c.1503G>A (p.Arg501=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543452G>C | CA500216976 | NAGLU | c.1446G>C (p.Arg482=) c.784G>C (n.784G>C) c.485G>C c.615G>C (p.Arg205=) c.447G>C (p.Arg149=) c.1503G>C (p.Arg501=) | |
| 17 | g.42543452G= | CA1139532160 | NAGLU | c.1446G= (p.Arg482=) c.784G= (n.784G=) c.485G= c.615G= (p.Arg205=) c.447G= (p.Arg149=) c.1503G= (p.Arg501=) | |
| 17 | g.42543452G>T | CA500216975 | NAGLU | c.1446G>T (p.Arg482=) c.784G>T (n.784G>T) c.485G>T c.615G>T (p.Arg205=) c.447G>T (p.Arg149=) c.1503G>T (p.Arg501=) | gnomAD v4 |
| 17 | g.42543453T>A | CA399603817 | NAGLU | c.1447T>A (p.Tyr483Asn) c.785T>A (n.785T>A) c.486T>A c.616T>A (p.Tyr206Asn) c.448T>A (p.Tyr150Asn) c.1504T>A (p.Tyr502Asn) | |
| 17 | g.42543453T>C | CA399603818 | NAGLU | c.1447T>C (p.Tyr483His) c.785T>C (n.785T>C) c.486T>C c.616T>C (p.Tyr206His) c.448T>C (p.Tyr150His) c.1504T>C (p.Tyr502His) | |
| 17 | g.42543453T>G | CA399603820 | NAGLU | c.1447T>G (p.Tyr483Asp) c.785T>G (n.785T>G) c.486T>G c.616T>G (p.Tyr206Asp) c.448T>G (p.Tyr150Asp) c.1504T>G (p.Tyr502Asp) | |
| 17 | g.42543453dup | CA8577024 | NAGLU | c.1447dup (p.Tyr483LeufsTer?) c.785dup (n.785dup) c.486dup c.616dup (p.Tyr206LeufsTer?) c.448dup (p.Tyr150LeufsTer?) c.1504dup (p.Tyr502LeufsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543454A= | CA2260530280 | NAGLU | c.1448A= (p.Tyr483=) c.786A= (n.786A=) c.487A= c.617A= (p.Tyr206=) c.449A= (p.Tyr150=) c.1505A= (p.Tyr502=) | |
| 17 | g.42543454A>C | CA399603826 | NAGLU | c.1448A>C (p.Tyr483Ser) c.786A>C (n.786A>C) c.487A>C c.617A>C (p.Tyr206Ser) c.449A>C (p.Tyr150Ser) c.1505A>C (p.Tyr502Ser) | |
| 17 | g.42543454A>G | CA399603824 | NAGLU | c.1448A>G (p.Tyr483Cys) c.786A>G (n.786A>G) c.487A>G c.617A>G (p.Tyr206Cys) c.449A>G (p.Tyr150Cys) c.1505A>G (p.Tyr502Cys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.42543454A>T | CA399603823 | NAGLU | c.1448A>T (p.Tyr483Phe) c.786A>T (n.786A>T) c.487A>T c.617A>T (p.Tyr206Phe) c.449A>T (p.Tyr150Phe) c.1505A>T (p.Tyr502Phe) | |
| 17 | g.42543455T>A | CA399603828 | NAGLU | c.1449T>A (p.Tyr483Ter) c.787T>A (n.787T>A) c.488T>A c.618T>A (p.Tyr206Ter) c.450T>A (p.Tyr150Ter) c.1506T>A (p.Tyr502Ter) | |
| 17 | g.42543455T>C | CA500216977 | NAGLU | c.1449T>C (p.Tyr483=) c.787T>C (n.787T>C) c.488T>C c.618T>C (p.Tyr206=) c.450T>C (p.Tyr150=) c.1506T>C (p.Tyr502=) | |
| 17 | g.42543455T>G | CA399603830 | NAGLU | c.1449T>G (p.Tyr483Ter) c.787T>G (n.787T>G) c.488T>G c.618T>G (p.Tyr206Ter) c.450T>G (p.Tyr150Ter) c.1506T>G (p.Tyr502Ter) | |
| 17 | g.42543455T= | CA2260530281 | NAGLU | c.1449T= (p.Tyr483=) c.787T= (n.787T=) c.488T= c.618T= (p.Tyr206=) c.450T= (p.Tyr150=) c.1506T= (p.Tyr502=) | |
| 17 | g.42543456G>A | CA399603832 | NAGLU | c.1450G>A (p.Gly484Arg) c.788G>A (n.788G>A) c.489G>A c.619G>A (p.Gly207Arg) c.451G>A (p.Gly151Arg) c.1507G>A (p.Gly503Arg) | gnomAD v4 |
| 17 | g.42543456G>C | CA399603834 | NAGLU | c.1450G>C (p.Gly484Arg) c.788G>C (n.788G>C) c.489G>C c.619G>C (p.Gly207Arg) c.451G>C (p.Gly151Arg) c.1507G>C (p.Gly503Arg) | |
| 17 | g.42543456G>T | CA399603835 | NAGLU | c.1450G>T (p.Gly484Trp) c.788G>T (n.788G>T) c.489G>T c.619G>T (p.Gly207Trp) c.451G>T (p.Gly151Trp) c.1507G>T (p.Gly503Trp) | gnomAD v4 |
| 17 | g.42543459dup | CA8577025 | NAGLU | c.1453dup (p.Val485GlyfsTer?) c.791dup (n.791dup) c.492dup c.622dup (p.Val208GlyfsTer?) c.454dup (p.Val152GlyfsTer?) c.1510dup (p.Val504GlyfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42543457G>A | CA399603839 | NAGLU | c.1451G>A (p.Gly484Glu) c.789G>A (n.789G>A) c.490G>A c.620G>A (p.Gly207Glu) c.452G>A (p.Gly151Glu) c.1508G>A (p.Gly503Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543457G>C | CA399603837 | NAGLU | c.1451G>C (p.Gly484Ala) c.789G>C (n.789G>C) c.490G>C c.620G>C (p.Gly207Ala) c.452G>C (p.Gly151Ala) c.1508G>C (p.Gly503Ala) | |
| 17 | g.42543457G= | CA2260530282 | NAGLU | c.1451G= (p.Gly484=) c.789G= (n.789G=) c.490G= c.620G= (p.Gly207=) c.452G= (p.Gly151=) c.1508G= (p.Gly503=) | |
| 17 | g.42543457G>T | CA399603838 | NAGLU | c.1451G>T (p.Gly484Val) c.789G>T (n.789G>T) c.490G>T c.620G>T (p.Gly207Val) c.452G>T (p.Gly151Val) c.1508G>T (p.Gly503Val) | gnomAD v4 |
| 17 | g.42543458G>A | CA8577026 | NAGLU | c.1452G>A (p.Gly484=) c.790G>A (n.790G>A) c.491G>A c.621G>A (p.Gly207=) c.453G>A (p.Gly151=) c.1509G>A (p.Gly503=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543458G>C | CA500216979 | NAGLU | c.1452G>C (p.Gly484=) c.790G>C (n.790G>C) c.491G>C c.621G>C (p.Gly207=) c.453G>C (p.Gly151=) c.1509G>C (p.Gly503=) | |
| 17 | g.42543458G= | CA2260530283 | NAGLU | c.1452G= (p.Gly484=) c.790G= (n.790G=) c.491G= c.621G= (p.Gly207=) c.453G= (p.Gly151=) c.1509G= (p.Gly503=) | |
| 17 | g.42543458G>T | CA500216978 | NAGLU | c.1452G>T (p.Gly484=) c.790G>T (n.790G>T) c.491G>T c.621G>T (p.Gly207=) c.453G>T (p.Gly151=) c.1509G>T (p.Gly503=) | gnomAD v4 |
| 17 | g.42543459G>A | CA399603843 | NAGLU | c.1453G>A (p.Val485Ile) c.791G>A (n.791G>A) c.492G>A c.622G>A (p.Val208Ile) c.454G>A (p.Val152Ile) c.1510G>A (p.Val504Ile) | dbSNP gnomAD v4 |
| 17 | g.42543459G>C | CA399603844 | NAGLU | c.1453G>C (p.Val485Leu) c.791G>C (n.791G>C) c.492G>C c.622G>C (p.Val208Leu) c.454G>C (p.Val152Leu) c.1510G>C (p.Val504Leu) | ClinVar dbSNP |
| 17 | g.42543459G= | CA2260530284 | NAGLU | c.1453G= (p.Val485=) c.791G= (n.791G=) c.492G= c.622G= (p.Val208=) c.454G= (p.Val152=) c.1510G= (p.Val504=) | |
| 17 | g.42543459G>T | CA399603846 | NAGLU | c.1453G>T (p.Val485Phe) c.791G>T (n.791G>T) c.492G>T c.622G>T (p.Val208Phe) c.454G>T (p.Val152Phe) c.1510G>T (p.Val504Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543460T>A | CA399603848 | NAGLU | c.1454T>A (p.Val485Asp) c.792T>A (n.792T>A) c.493T>A c.623T>A (p.Val208Asp) c.455T>A (p.Val152Asp) c.1511T>A (p.Val504Asp) | |
| 17 | g.42543460T>C | CA399603849 | NAGLU | c.1454T>C (p.Val485Ala) c.792T>C (n.792T>C) c.493T>C c.623T>C (p.Val208Ala) c.455T>C (p.Val152Ala) c.1511T>C (p.Val504Ala) | |
| 17 | g.42543460T>G | CA399603850 | NAGLU | c.1454T>G (p.Val485Gly) c.792T>G (n.792T>G) c.493T>G c.623T>G (p.Val208Gly) c.455T>G (p.Val152Gly) c.1511T>G (p.Val504Gly) | dbSNP |
| 17 | g.42543460T= | CA2260530285 | NAGLU | c.1454T= (p.Val485=) c.792T= (n.792T=) c.493T= c.623T= (p.Val208=) c.455T= (p.Val152=) c.1511T= (p.Val504=) | |
| 17 | g.42543461C>A | CA500216980 | NAGLU | c.1455C>A (p.Val485=) c.793C>A (n.793C>A) c.494C>A c.624C>A (p.Val208=) c.456C>A (p.Val152=) c.1512C>A (p.Val504=) | gnomAD v4 |
| 17 | g.42543461C>G | CA500216981 | NAGLU | c.1455C>G (p.Val485=) c.793C>G (n.793C>G) c.494C>G c.624C>G (p.Val208=) c.456C>G (p.Val152=) c.1512C>G (p.Val504=) |