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.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 |
17 | g.42543445C>A | CA399602516 | NAGLU | c.1439C>A (p.Ala480Asp) c.777C>A (n.777C>A) c.478C>A c.608C>A (p.Ala203Asp) c.440C>A (p.Ala147Asp) c.1496C>A (p.Ala499Asp) | |
17 | g.42543445C= | CA2260530274 | NAGLU | c.1439C= (p.Ala480=) c.777C= (n.777C=) c.478C= c.608C= (p.Ala203=) c.440C= (p.Ala147=) c.1496C= (p.Ala499=) | |
17 | g.42543445C>G | CA8577020 | NAGLU | c.1439C>G (p.Ala480Gly) c.777C>G (n.777C>G) c.478C>G c.608C>G (p.Ala203Gly) c.440C>G (p.Ala147Gly) c.1496C>G (p.Ala499Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42543445C>T | CA399602517 | NAGLU | c.1439C>T (p.Ala480Val) c.777C>T (n.777C>T) c.478C>T c.608C>T (p.Ala203Val) c.440C>T (p.Ala147Val) c.1496C>T (p.Ala499Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42543447del | CA2637971213 | NAGLU | c.1441del (p.Arg481GlyfsTer?) c.779del (n.779del) c.480del c.610del (p.Arg204GlyfsTer?) c.442del (p.Arg148GlyfsTer?) c.1498del (p.Arg500GlyfsTer?) | gnomAD v4 |
17 | g.42543446C>A | CA500216956 | NAGLU | c.1440C>A (p.Ala480=) c.778C>A (n.778C>A) c.479C>A c.609C>A (p.Ala203=) c.441C>A (p.Ala147=) c.1497C>A (p.Ala499=) | |
17 | g.42543446C>G | CA500216954 | NAGLU | c.1440C>G (p.Ala480=) c.778C>G (n.778C>G) c.479C>G c.609C>G (p.Ala203=) c.441C>G (p.Ala147=) c.1497C>G (p.Ala499=) | |
17 | g.42543446C>T | CA500216955 | NAGLU | c.1440C>T (p.Ala480=) c.778C>T (n.778C>T) c.479C>T c.609C>T (p.Ala203=) c.441C>T (p.Ala147=) c.1497C>T (p.Ala499=) | gnomAD v4 |
17 | g.42543447C>A | CA500216957 | NAGLU | c.1441C>A (p.Arg481=) c.779C>A (n.779C>A) c.480C>A c.610C>A (p.Arg204=) c.442C>A (p.Arg148=) c.1498C>A (p.Arg500=) | |
17 | g.42543447C= | CA2260530275 | NAGLU | c.1441C= (p.Arg481=) c.779C= (n.779C=) c.480C= c.610C= (p.Arg204=) c.442C= (p.Arg148=) c.1498C= (p.Arg500=) | |
17 | g.42543447C>G | CA399602518 | NAGLU | c.1441C>G (p.Arg481Gly) c.779C>G (n.779C>G) c.480C>G c.610C>G (p.Arg204Gly) c.442C>G (p.Arg148Gly) c.1498C>G (p.Arg500Gly) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543447C>T | CA8577021 | NAGLU | c.1441C>T (p.Arg481Trp) c.779C>T (n.779C>T) c.480C>T c.610C>T (p.Arg204Trp) c.442C>T (p.Arg148Trp) c.1498C>T (p.Arg500Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543448G>A | CA290780503 | NAGLU | c.1442G>A (p.Arg481Gln) c.780G>A (n.780G>A) c.481G>A c.611G>A (p.Arg204Gln) c.443G>A (p.Arg148Gln) c.1499G>A (p.Arg500Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543448G>C | CA399602519 | NAGLU | c.1442G>C (p.Arg481Pro) c.780G>C (n.780G>C) c.481G>C c.611G>C (p.Arg204Pro) c.443G>C (p.Arg148Pro) c.1499G>C (p.Arg500Pro) | |
17 | g.42543448G= | CA2260530276 | NAGLU | c.1442G= (p.Arg481=) c.780G= (n.780G=) c.481G= c.611G= (p.Arg204=) c.443G= (p.Arg148=) c.1499G= (p.Arg500=) | |
17 | g.42543448G>T | CA399602520 | NAGLU | c.1442G>T (p.Arg481Leu) c.780G>T (n.780G>T) c.481G>T c.611G>T (p.Arg204Leu) c.443G>T (p.Arg148Leu) c.1499G>T (p.Arg500Leu) | gnomAD v4 |
17 | g.42543449G>A | CA500216960 | NAGLU | c.1443G>A (p.Arg481=) c.781G>A (n.781G>A) c.482G>A c.612G>A (p.Arg204=) c.444G>A (p.Arg148=) c.1500G>A (p.Arg500=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42543449G>C | CA500216958 | NAGLU | c.1443G>C (p.Arg481=) c.781G>C (n.781G>C) c.482G>C c.612G>C (p.Arg204=) c.444G>C (p.Arg148=) c.1500G>C (p.Arg500=) | gnomAD v4 |
17 | g.42543449G= | CA2260530277 | NAGLU | c.1443G= (p.Arg481=) c.781G= (n.781G=) c.482G= c.612G= (p.Arg204=) c.444G= (p.Arg148=) c.1500G= (p.Arg500=) | |
17 | g.42543449G>T | CA500216959 | NAGLU | c.1443G>T (p.Arg481=) c.781G>T (n.781G>T) c.482G>T c.612G>T (p.Arg204=) c.444G>T (p.Arg148=) c.1500G>T (p.Arg500=) | gnomAD v4 |
17 | g.42543450del | CA2741537164 | NAGLU | c.1444del (p.Arg482GlyfsTer?) c.782del (n.782del) c.483del c.613del (p.Arg205GlyfsTer?) c.445del (p.Arg149GlyfsTer?) c.1501del (p.Arg501GlyfsTer?) | |
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=) | ClinVar 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.42543452_42543453del | CA2741537165 | NAGLU | c.1446_1447del (p.Tyr483TrpfsTer?) c.784_785del (n.784_785del) c.485_486del c.615_616del (p.Tyr206TrpfsTer?) c.447_448del (p.Tyr150TrpfsTer?) c.1503_1504del (p.Tyr502TrpfsTer?) | |
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=) | |
17 | g.42543461C>T | CA500216982 | NAGLU | c.1455C>T (p.Val485=) c.793C>T (n.793C>T) c.494C>T c.624C>T (p.Val208=) c.456C>T (p.Val152=) c.1512C>T (p.Val504=) | |
17 | g.42543462T>A | CA399603853 | NAGLU | c.1456T>A (p.Ser486Thr) c.794T>A (n.794T>A) c.495T>A c.625T>A (p.Ser209Thr) c.457T>A (p.Ser153Thr) c.1513T>A (p.Ser505Thr) | |
17 | g.42543462T>C | CA399603854 | NAGLU | c.1456T>C (p.Ser486Pro) c.794T>C (n.794T>C) c.495T>C c.625T>C (p.Ser209Pro) c.457T>C (p.Ser153Pro) c.1513T>C (p.Ser505Pro) | gnomAD v4 |
17 | g.42543462T>G | CA399603856 | NAGLU | c.1456T>G (p.Ser486Ala) c.794T>G (n.794T>G) c.495T>G c.625T>G (p.Ser209Ala) c.457T>G (p.Ser153Ala) c.1513T>G (p.Ser505Ala) | |
17 | g.42543463C>A | CA399603858 | NAGLU | c.1457C>A (p.Ser486Tyr) c.795C>A (n.795C>A) c.496C>A c.626C>A (p.Ser209Tyr) c.458C>A (p.Ser153Tyr) c.1514C>A (p.Ser505Tyr) | gnomAD v4 |
17 | g.42543463C= | CA2260530286 | NAGLU | c.1457C= (p.Ser486=) c.795C= (n.795C=) c.496C= c.626C= (p.Ser209=) c.458C= (p.Ser153=) c.1514C= (p.Ser505=) | |
17 | g.42543463C>G | CA399603860 | NAGLU | c.1457C>G (p.Ser486Cys) c.795C>G (n.795C>G) c.496C>G c.626C>G (p.Ser209Cys) c.458C>G (p.Ser153Cys) c.1514C>G (p.Ser505Cys) | |
17 | g.42543463C>T | CA8577027 | NAGLU | c.1457C>T (p.Ser486Phe) c.795C>T (n.795C>T) c.496C>T c.626C>T (p.Ser209Phe) c.458C>T (p.Ser153Phe) c.1514C>T (p.Ser505Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543464C>A | CA500216983 | NAGLU | c.1458C>A (p.Ser486=) c.796C>A (n.796C>A) c.497C>A c.627C>A (p.Ser209=) c.459C>A (p.Ser153=) c.1515C>A (p.Ser505=) | |
17 | g.42543464C= | CA2260530287 | NAGLU | c.1458C= (p.Ser486=) c.796C= (n.796C=) c.497C= c.627C= (p.Ser209=) c.459C= (p.Ser153=) c.1515C= (p.Ser505=) | |
17 | g.42543464C>G | CA500216985 | NAGLU | c.1458C>G (p.Ser486=) c.796C>G (n.796C>G) c.497C>G c.627C>G (p.Ser209=) c.459C>G (p.Ser153=) c.1515C>G (p.Ser505=) | |
17 | g.42543464C>T | CA500216984 | NAGLU | c.1458C>T (p.Ser486=) c.796C>T (n.796C>T) c.497C>T c.627C>T (p.Ser209=) c.459C>T (p.Ser153=) c.1515C>T (p.Ser505=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42543465C>A | CA399603863 | NAGLU | c.1459C>A (p.His487Asn) c.797C>A (n.797C>A) c.498C>A c.628C>A (p.His210Asn) c.460C>A (p.His154Asn) c.1516C>A (p.His506Asn) | |
17 | g.42543465C= | CA2260530288 | NAGLU | c.1459C= (p.His487=) c.797C= (n.797C=) c.498C= c.628C= (p.His210=) c.460C= (p.His154=) c.1516C= (p.His506=) | |
17 | g.42543465C>G | CA399603867 | NAGLU | c.1459C>G (p.His487Asp) c.797C>G (n.797C>G) c.498C>G c.628C>G (p.His210Asp) c.460C>G (p.His154Asp) c.1516C>G (p.His506Asp) | |
17 | g.42543465C>T | CA399603865 | NAGLU | c.1459C>T (p.His487Tyr) c.797C>T (n.797C>T) c.498C>T c.628C>T (p.His210Tyr) c.460C>T (p.His154Tyr) c.1516C>T (p.His506Tyr) | dbSNP gnomAD v2 |
17 | g.42543466A= | CA2260530289 | NAGLU | c.1460A= (p.His487=) c.798A= (n.798A=) c.499A= c.629A= (p.His210=) c.461A= (p.His154=) c.1517A= (p.His506=) | |
17 | g.42543466A>C | CA399603870 | NAGLU | c.1460A>C (p.His487Pro) c.798A>C (n.798A>C) c.499A>C c.629A>C (p.His210Pro) c.461A>C (p.His154Pro) c.1517A>C (p.His506Pro) | gnomAD v4 |
17 | g.42543466A>G | CA399603871 | NAGLU | c.1460A>G (p.His487Arg) c.798A>G (n.798A>G) c.499A>G c.629A>G (p.His210Arg) c.461A>G (p.His154Arg) c.1517A>G (p.His506Arg) | |
17 | g.42543466A>T | CA399603872 | NAGLU | c.1460A>T (p.His487Leu) c.798A>T (n.798A>T) c.499A>T c.629A>T (p.His210Leu) c.461A>T (p.His154Leu) c.1517A>T (p.His506Leu) | |
17 | g.42543466dup | CA913012293 | NAGLU | c.1460dup (p.His487GlnfsTer29) c.798dup (n.798dup) c.499dup c.629dup (p.His210GlnfsTer29) c.461dup (p.His154GlnfsTer29) c.1517dup (p.His506GlnfsTer29) | ClinVar dbSNP |
17 | g.42543467C>A | CA290780560 | NAGLU | c.1461C>A (p.His487Gln) c.799C>A (n.799C>A) c.500C>A c.630C>A (p.His210Gln) c.462C>A (p.His154Gln) c.1518C>A (p.His506Gln) | ClinVar dbSNP gnomAD v4 |
17 | g.42543467C= | CA2260530290 | NAGLU | c.1461C= (p.His487=) c.799C= (n.799C=) c.500C= c.630C= (p.His210=) c.462C= (p.His154=) c.1518C= (p.His506=) | |
17 | g.42543467C>G | CA399603876 | NAGLU | c.1461C>G (p.His487Gln) c.799C>G (n.799C>G) c.500C>G c.630C>G (p.His210Gln) c.462C>G (p.His154Gln) c.1518C>G (p.His506Gln) | |
17 | g.42543467C>T | CA500216986 | NAGLU | c.1461C>T (p.His487=) c.799C>T (n.799C>T) c.500C>T c.630C>T (p.His210=) c.462C>T (p.His154=) c.1518C>T (p.His506=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543469dup | CA658823962 | NAGLU | c.1463dup (p.Asp489GlyfsTer27) c.801dup (n.801dup) c.502dup c.632dup (p.Asp212GlyfsTer27) c.464dup (p.Asp156GlyfsTer27) c.1520dup (p.Asp508GlyfsTer27) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42543469del | CA2576276093 | NAGLU | c.1463del (p.Pro488ArgfsTer?) c.801del (n.801del) c.502del c.632del (p.Pro211ArgfsTer?) c.464del (p.Pro155ArgfsTer?) c.1520del (p.Pro507ArgfsTer?) | |
17 | g.42543468C>A | CA290780564 | NAGLU | c.1462C>A (p.Pro488Thr) c.800C>A (n.800C>A) c.501C>A c.631C>A (p.Pro211Thr) c.463C>A (p.Pro155Thr) c.1519C>A (p.Pro507Thr) | dbSNP gnomAD v4 |
17 | g.42543468C= | CA2260530291 | NAGLU | c.1462C= (p.Pro488=) c.800C= (n.800C=) c.501C= c.631C= (p.Pro211=) c.463C= (p.Pro155=) c.1519C= (p.Pro507=) | |
17 | g.42543468C>G | CA399603879 | NAGLU | c.1462C>G (p.Pro488Ala) c.800C>G (n.800C>G) c.501C>G c.631C>G (p.Pro211Ala) c.463C>G (p.Pro155Ala) c.1519C>G (p.Pro507Ala) | |
17 | g.42543468C>T | CA399603880 | NAGLU | c.1462C>T (p.Pro488Ser) c.800C>T (n.800C>T) c.501C>T c.631C>T (p.Pro211Ser) c.463C>T (p.Pro155Ser) c.1519C>T (p.Pro507Ser) | |
17 | g.42543469C>A | CA399603883 | NAGLU | c.1463C>A (p.Pro488Gln) c.801C>A (n.801C>A) c.502C>A c.632C>A (p.Pro211Gln) c.464C>A (p.Pro155Gln) c.1520C>A (p.Pro507Gln) | gnomAD v4 |
17 | g.42543469C= | CA2260530292 | NAGLU | c.1463C= (p.Pro488=) c.801C= (n.801C=) c.502C= c.632C= (p.Pro211=) c.464C= (p.Pro155=) c.1520C= (p.Pro507=) | |
17 | g.42543469C>G | CA399603885 | NAGLU | c.1463C>G (p.Pro488Arg) c.801C>G (n.801C>G) c.502C>G c.632C>G (p.Pro211Arg) c.464C>G (p.Pro155Arg) c.1520C>G (p.Pro507Arg) | |
17 | g.42543469C>T | CA8577028 | NAGLU | c.1463C>T (p.Pro488Leu) c.801C>T (n.801C>T) c.502C>T c.632C>T (p.Pro211Leu) c.464C>T (p.Pro155Leu) c.1520C>T (p.Pro507Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543470G>A | CA8577029 | NAGLU | c.1464G>A (p.Pro488=) c.802G>A (n.802G>A) c.503G>A c.633G>A (p.Pro211=) c.465G>A (p.Pro155=) c.1521G>A (p.Pro507=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.42543470G>C | CA500216988 | NAGLU | c.1464G>C (p.Pro488=) c.802G>C (n.802G>C) c.503G>C c.633G>C (p.Pro211=) c.465G>C (p.Pro155=) c.1521G>C (p.Pro507=) | |
17 | g.42543470G= | CA2260530293 | NAGLU | c.1464G= (p.Pro488=) c.802G= (n.802G=) c.503G= c.633G= (p.Pro211=) c.465G= (p.Pro155=) c.1521G= (p.Pro507=) | |
17 | g.42543470G>T | CA500216987 | NAGLU | c.1464G>T (p.Pro488=) c.802G>T (n.802G>T) c.503G>T c.633G>T (p.Pro211=) c.465G>T (p.Pro155=) c.1521G>T (p.Pro507=) | gnomAD v4 |
17 | g.42543471G>A | CA399603891 | NAGLU | c.1465G>A (p.Asp489Asn) c.803G>A (n.803G>A) c.504G>A c.634G>A (p.Asp212Asn) c.466G>A (p.Asp156Asn) c.1522G>A (p.Asp508Asn) | |
17 | g.42543471G>C | CA399603890 | NAGLU | c.1465G>C (p.Asp489His) c.803G>C (n.803G>C) c.504G>C c.634G>C (p.Asp212His) c.466G>C (p.Asp156His) c.1522G>C (p.Asp508His) | gnomAD v4 |
17 | g.42543471G>T | CA399603888 | NAGLU | c.1465G>T (p.Asp489Tyr) c.803G>T (n.803G>T) c.504G>T c.634G>T (p.Asp212Tyr) c.466G>T (p.Asp156Tyr) c.1522G>T (p.Asp508Tyr) | gnomAD v4 |
17 | g.42543472A>C | CA399603893 | NAGLU | c.1466A>C (p.Asp489Ala) c.804A>C (n.804A>C) c.505A>C c.635A>C (p.Asp212Ala) c.467A>C (p.Asp156Ala) c.1523A>C (p.Asp508Ala) | |
17 | g.42543472A>G | CA399603895 | NAGLU | c.1466A>G (p.Asp489Gly) c.804A>G (n.804A>G) c.505A>G c.635A>G (p.Asp212Gly) c.467A>G (p.Asp156Gly) c.1523A>G (p.Asp508Gly) | |
17 | g.42543472A>T | CA399603896 | NAGLU | c.1466A>T (p.Asp489Val) c.804A>T (n.804A>T) c.505A>T c.635A>T (p.Asp212Val) c.467A>T (p.Asp156Val) c.1523A>T (p.Asp508Val) | |
17 | g.42543473C>A | CA399603898 | NAGLU | c.1467C>A (p.Asp489Glu) c.805C>A (n.805C>A) c.506C>A c.636C>A (p.Asp212Glu) c.468C>A (p.Asp156Glu) c.1524C>A (p.Asp508Glu) | gnomAD v4 |
17 | g.42543473C= | CA2260530294 | NAGLU | c.1467C= (p.Asp489=) c.805C= (n.805C=) c.506C= c.636C= (p.Asp212=) c.468C= (p.Asp156=) c.1524C= (p.Asp508=) | |
17 | g.42543473C>G | CA399603899 | NAGLU | c.1467C>G (p.Asp489Glu) c.805C>G (n.805C>G) c.506C>G c.636C>G (p.Asp212Glu) c.468C>G (p.Asp156Glu) c.1524C>G (p.Asp508Glu) | |
17 | g.42543473C>T | CA8577030 | NAGLU | c.1467C>T (p.Asp489=) c.805C>T (n.805C>T) c.506C>T c.636C>T (p.Asp212=) c.468C>T (p.Asp156=) c.1524C>T (p.Asp508=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543474G>A | CA8577031 | NAGLU | c.1468G>A (p.Ala490Thr) c.806G>A (n.806G>A) c.507G>A c.637G>A (p.Ala213Thr) c.469G>A (p.Ala157Thr) c.1525G>A (p.Ala509Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42543474G>C | CA399603903 | NAGLU | c.1468G>C (p.Ala490Pro) c.806G>C (n.806G>C) c.507G>C c.637G>C (p.Ala213Pro) c.469G>C (p.Ala157Pro) c.1525G>C (p.Ala509Pro) | |
17 | g.42543474G= | CA2260530295 | NAGLU | c.1468G= (p.Ala490=) c.806G= (n.806G=) c.507G= c.637G= (p.Ala213=) c.469G= (p.Ala157=) c.1525G= (p.Ala509=) | |
17 | g.42543474G>T | CA290780582 | NAGLU | c.1468G>T (p.Ala490Ser) c.806G>T (n.806G>T) c.507G>T c.637G>T (p.Ala213Ser) c.469G>T (p.Ala157Ser) c.1525G>T (p.Ala509Ser) | dbSNP gnomAD v4 |
17 | g.42543475C>A | CA399603906 | NAGLU | c.1469C>A (p.Ala490Glu) c.807C>A (n.807C>A) c.508C>A c.638C>A (p.Ala213Glu) c.470C>A (p.Ala157Glu) c.1526C>A (p.Ala509Glu) | gnomAD v4 |
17 | g.42543475C>G | CA399603908 | NAGLU | c.1469C>G (p.Ala490Gly) c.807C>G (n.807C>G) c.508C>G c.638C>G (p.Ala213Gly) c.470C>G (p.Ala157Gly) c.1526C>G (p.Ala509Gly) | |
17 | g.42543475C>T | CA399603910 | NAGLU | c.1469C>T (p.Ala490Val) c.807C>T (n.807C>T) c.508C>T c.638C>T (p.Ala213Val) c.470C>T (p.Ala157Val) c.1526C>T (p.Ala509Val) | |
17 | g.42543476A>C | CA500216989 | NAGLU | c.1470A>C (p.Ala490=) c.808A>C (n.808A>C) c.509A>C c.639A>C (p.Ala213=) c.471A>C (p.Ala157=) c.1527A>C (p.Ala509=) | gnomAD v4 |
17 | g.42543476A>G | CA500216991 | NAGLU | c.1470A>G (p.Ala490=) c.808A>G (n.808A>G) c.509A>G c.639A>G (p.Ala213=) c.471A>G (p.Ala157=) c.1527A>G (p.Ala509=) | ClinVar dbSNP gnomAD v4 |
17 | g.42543476A>T | CA500216990 | NAGLU | c.1470A>T (p.Ala490=) c.808A>T (n.808A>T) c.509A>T c.639A>T (p.Ala213=) c.471A>T (p.Ala157=) c.1527A>T (p.Ala509=) | |
17 | g.42543477G>A | CA399603915 | NAGLU | c.1471G>A (p.Gly491Arg) c.809G>A (n.809G>A) c.510G>A c.640G>A (p.Gly214Arg) c.472G>A (p.Gly158Arg) c.1528G>A (p.Gly510Arg) | |
17 | g.42543477G>C | CA399603914 | NAGLU | c.1471G>C (p.Gly491Arg) c.809G>C (n.809G>C) c.510G>C c.640G>C (p.Gly214Arg) c.472G>C (p.Gly158Arg) c.1528G>C (p.Gly510Arg) | |
17 | g.42543477G>T | CA399603912 | NAGLU | c.1471G>T (p.Gly491Trp) c.809G>T (n.809G>T) c.510G>T c.640G>T (p.Gly214Trp) c.472G>T (p.Gly158Trp) c.1528G>T (p.Gly510Trp) | gnomAD v4 |
17 | g.42543478G>A | CA399603917 | NAGLU | c.1472G>A (p.Gly491Glu) c.810G>A (n.810G>A) c.511G>A c.641G>A (p.Gly214Glu) c.473G>A (p.Gly158Glu) c.1529G>A (p.Gly510Glu) | ClinVar |
17 | g.42543478G>C | CA8577032 | NAGLU | c.1472G>C (p.Gly491Ala) c.810G>C (n.810G>C) c.511G>C c.641G>C (p.Gly214Ala) c.473G>C (p.Gly158Ala) c.1529G>C (p.Gly510Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42543478G= | CA2260530296 | NAGLU | c.1472G= (p.Gly491=) c.810G= (n.810G=) c.511G= c.641G= (p.Gly214=) c.473G= (p.Gly158=) c.1529G= (p.Gly510=) | |
17 | g.42543478G>T | CA399603918 | NAGLU | c.1472G>T (p.Gly491Val) c.810G>T (n.810G>T) c.511G>T c.641G>T (p.Gly214Val) c.473G>T (p.Gly158Val) c.1529G>T (p.Gly510Val) | gnomAD v4 |
17 | g.42543479G>A | CA500216994 | NAGLU | c.1473G>A (p.Gly491=) c.811G>A (n.811G>A) c.512G>A c.642G>A (p.Gly214=) c.474G>A (p.Gly158=) c.1530G>A (p.Gly510=) | |
17 | g.42543479G>C | CA500216992 | NAGLU | c.1473G>C (p.Gly491=) c.811G>C (n.811G>C) c.512G>C c.642G>C (p.Gly214=) c.474G>C (p.Gly158=) c.1530G>C (p.Gly510=) | dbSNP |
17 | g.42543479G= | CA2260530297 | NAGLU | c.1473G= (p.Gly491=) c.811G= (n.811G=) c.512G= c.642G= (p.Gly214=) c.474G= (p.Gly158=) c.1530G= (p.Gly510=) | |
17 | g.42543479G>T | CA500216993 | NAGLU | c.1473G>T (p.Gly491=) c.811G>T (n.811G>T) c.512G>T c.642G>T (p.Gly214=) c.474G>T (p.Gly158=) c.1530G>T (p.Gly510=) | gnomAD v4 |
17 | g.42543480G>A | CA290780598 | NAGLU | c.1474G>A (p.Ala492Thr) c.812G>A (n.812G>A) c.513G>A c.643G>A (p.Ala215Thr) c.475G>A (p.Ala159Thr) c.1531G>A (p.Ala511Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543480G>C | CA399603924 | NAGLU | c.1474G>C (p.Ala492Pro) c.812G>C (n.812G>C) c.513G>C c.643G>C (p.Ala215Pro) c.475G>C (p.Ala159Pro) c.1531G>C (p.Ala511Pro) | |
17 | g.42543480G= | CA2260530298 | NAGLU | c.1474G= (p.Ala492=) c.812G= (n.812G=) c.513G= c.643G= (p.Ala215=) c.475G= (p.Ala159=) c.1531G= (p.Ala511=) | |
17 | g.42543480G>T | CA399603922 | NAGLU | c.1474G>T (p.Ala492Ser) c.812G>T (n.812G>T) c.513G>T c.643G>T (p.Ala215Ser) c.475G>T (p.Ala159Ser) c.1531G>T (p.Ala511Ser) | |
17 | g.42543481C>A | CA399603926 | NAGLU | c.1475C>A (p.Ala492Glu) c.813C>A (n.813C>A) c.514C>A c.644C>A (p.Ala215Glu) c.476C>A (p.Ala159Glu) c.1532C>A (p.Ala511Glu) | gnomAD v4 |
17 | g.42543481C>G | CA399603928 | NAGLU | c.1475C>G (p.Ala492Gly) c.813C>G (n.813C>G) c.514C>G c.644C>G (p.Ala215Gly) c.476C>G (p.Ala159Gly) c.1532C>G (p.Ala511Gly) | |
17 | g.42543481C>T | CA399603929 | NAGLU | c.1475C>T (p.Ala492Val) c.813C>T (n.813C>T) c.514C>T c.644C>T (p.Ala215Val) c.476C>T (p.Ala159Val) c.1532C>T (p.Ala511Val) | gnomAD v4 |
17 | g.42543482A>C | CA500216995 | NAGLU | c.1476A>C (p.Ala492=) c.814A>C (n.814A>C) c.515A>C c.645A>C (p.Ala215=) c.477A>C (p.Ala159=) c.1533A>C (p.Ala511=) | |
17 | g.42543482A>G | CA500216996 | NAGLU | c.1476A>G (p.Ala492=) c.814A>G (n.814A>G) c.515A>G c.645A>G (p.Ala215=) c.477A>G (p.Ala159=) c.1533A>G (p.Ala511=) | |
17 | g.42543482A>T | CA500216997 | NAGLU | c.1476A>T (p.Ala492=) c.814A>T (n.814A>T) c.515A>T c.645A>T (p.Ala215=) c.477A>T (p.Ala159=) c.1533A>T (p.Ala511=) | |
17 | g.42543483G>A | CA399603932 | NAGLU | c.1477G>A (p.Ala493Thr) c.815G>A (n.815G>A) c.516G>A c.646G>A (p.Ala216Thr) c.478G>A (p.Ala160Thr) c.1534G>A (p.Ala512Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42543483G>C | CA399603934 | NAGLU | c.1477G>C (p.Ala493Pro) c.815G>C (n.815G>C) c.516G>C c.646G>C (p.Ala216Pro) c.478G>C (p.Ala160Pro) c.1534G>C (p.Ala512Pro) | |
17 | g.42543483G= | CA2260530299 | NAGLU | c.1477G= (p.Ala493=) c.815G= (n.815G=) c.516G= c.646G= (p.Ala216=) c.478G= (p.Ala160=) c.1534G= (p.Ala512=) | |
17 | g.42543483G>T | CA399603935 | NAGLU | c.1477G>T (p.Ala493Ser) c.815G>T (n.815G>T) c.516G>T c.646G>T (p.Ala216Ser) c.478G>T (p.Ala160Ser) c.1534G>T (p.Ala512Ser) | |
17 | g.42543484C>A | CA399603937 | NAGLU | c.1478C>A (p.Ala493Glu) c.816C>A (n.816C>A) c.517C>A c.647C>A (p.Ala216Glu) c.479C>A (p.Ala160Glu) c.1535C>A (p.Ala512Glu) | gnomAD v4 |
17 | g.42543484C= | CA2260530300 | NAGLU | c.1478C= (p.Ala493=) c.816C= (n.816C=) c.517C= c.647C= (p.Ala216=) c.479C= (p.Ala160=) c.1535C= (p.Ala512=) | |
17 | g.42543484C>G | CA399603939 | NAGLU | c.1478C>G (p.Ala493Gly) c.816C>G (n.816C>G) c.517C>G c.647C>G (p.Ala216Gly) c.479C>G (p.Ala160Gly) c.1535C>G (p.Ala512Gly) | |
17 | g.42543484C>T | CA8577033 | NAGLU | c.1478C>T (p.Ala493Val) c.816C>T (n.816C>T) c.517C>T c.647C>T (p.Ala216Val) c.479C>T (p.Ala160Val) c.1535C>T (p.Ala512Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42543485G>A | CA8577034 | NAGLU | c.1479G>A (p.Ala493=) c.817G>A (n.817G>A) c.518G>A c.648G>A (p.Ala216=) c.480G>A (p.Ala160=) c.1536G>A (p.Ala512=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543485G>C | CA500216998 | NAGLU | c.1479G>C (p.Ala493=) c.817G>C (n.817G>C) c.518G>C c.648G>C (p.Ala216=) c.480G>C (p.Ala160=) c.1536G>C (p.Ala512=) | |
17 | g.42543485G= | CA2260530301 | NAGLU | c.1479G= (p.Ala493=) c.817G= (n.817G=) c.518G= c.648G= (p.Ala216=) c.480G= (p.Ala160=) c.1536G= (p.Ala512=) | |
17 | g.42543485G>T | CA500216999 | NAGLU | c.1479G>T (p.Ala493=) c.817G>T (n.817G>T) c.518G>T c.648G>T (p.Ala216=) c.480G>T (p.Ala160=) c.1536G>T (p.Ala512=) | gnomAD v4 |
17 | g.42543486T>A | CA399603942 | NAGLU | c.1480T>A (p.Trp494Arg) c.818T>A (n.818T>A) c.519T>A c.649T>A (p.Trp217Arg) c.481T>A (p.Trp161Arg) c.1537T>A (p.Trp513Arg) | |
17 | g.42543486T>C | CA399603943 | NAGLU | c.1480T>C (p.Trp494Arg) c.818T>C (n.818T>C) c.519T>C c.649T>C (p.Trp217Arg) c.481T>C (p.Trp161Arg) c.1537T>C (p.Trp513Arg) | |
17 | g.42543486T>G | CA399603944 | NAGLU | c.1480T>G (p.Trp494Gly) c.818T>G (n.818T>G) c.519T>G c.649T>G (p.Trp217Gly) c.481T>G (p.Trp161Gly) c.1537T>G (p.Trp513Gly) | |
17 | g.42543487G>A | CA399603950 | NAGLU | c.1481G>A (p.Trp494Ter) c.819G>A (n.819G>A) c.520G>A c.650G>A (p.Trp217Ter) c.482G>A (p.Trp161Ter) c.1538G>A (p.Trp513Ter) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543487G>C | CA399603947 | NAGLU | c.1481G>C (p.Trp494Ser) c.819G>C (n.819G>C) c.520G>C c.650G>C (p.Trp217Ser) c.482G>C (p.Trp161Ser) c.1538G>C (p.Trp513Ser) | |
17 | g.42543487G= | CA2260530302 | NAGLU | c.1481G= (p.Trp494=) c.819G= (n.819G=) c.520G= c.650G= (p.Trp217=) c.482G= (p.Trp161=) c.1538G= (p.Trp513=) | |
17 | g.42543487G>T | CA399603948 | NAGLU | c.1481G>T (p.Trp494Leu) c.819G>T (n.819G>T) c.520G>T c.650G>T (p.Trp217Leu) c.482G>T (p.Trp161Leu) c.1538G>T (p.Trp513Leu) | |
17 | g.42543488G>A | CA399603952 | NAGLU | c.1482G>A (p.Trp494Ter) c.820G>A (n.820G>A) c.521G>A c.651G>A (p.Trp217Ter) c.483G>A (p.Trp161Ter) c.1539G>A (p.Trp513Ter) | ClinVar dbSNP |
17 | g.42543488G>C | CA399603954 | NAGLU | c.1482G>C (p.Trp494Cys) c.820G>C (n.820G>C) c.521G>C c.651G>C (p.Trp217Cys) c.483G>C (p.Trp161Cys) c.1539G>C (p.Trp513Cys) | |
17 | g.42543488G= | CA2260530303 | NAGLU | c.1482G= (p.Trp494=) c.820G= (n.820G=) c.521G= c.651G= (p.Trp217=) c.483G= (p.Trp161=) c.1539G= (p.Trp513=) | |
17 | g.42543488G>T | CA399603955 | NAGLU | c.1482G>T (p.Trp494Cys) c.820G>T (n.820G>T) c.521G>T c.651G>T (p.Trp217Cys) c.483G>T (p.Trp161Cys) c.1539G>T (p.Trp513Cys) | gnomAD v4 |
17 | g.42543489A>C | CA500217000 | NAGLU | c.1483A>C (p.Arg495=) c.821A>C (n.821A>C) c.522A>C c.652A>C (p.Arg218=) c.484A>C (p.Arg162=) c.1540A>C (p.Arg514=) | |
17 | g.42543489A>G | CA399603956 | NAGLU | c.1483A>G (p.Arg495Gly) c.821A>G (n.821A>G) c.522A>G c.652A>G (p.Arg218Gly) c.484A>G (p.Arg162Gly) c.1540A>G (p.Arg514Gly) | |
17 | g.42543489A>T | CA399603958 | NAGLU | c.1483A>T (p.Arg495Trp) c.821A>T (n.821A>T) c.522A>T c.652A>T (p.Arg218Trp) c.484A>T (p.Arg162Trp) c.1540A>T (p.Arg514Trp) | |
17 | g.42543490G>A | CA399603960 | NAGLU | c.1484G>A (p.Arg495Lys) c.822G>A (n.822G>A) c.523G>A c.653G>A (p.Arg218Lys) c.485G>A (p.Arg162Lys) c.1541G>A (p.Arg514Lys) | ClinVar gnomAD v4 |
17 | g.42543490G>C | CA399603962 | NAGLU | c.1484G>C (p.Arg495Thr) c.822G>C (n.822G>C) c.523G>C c.653G>C (p.Arg218Thr) c.485G>C (p.Arg162Thr) c.1541G>C (p.Arg514Thr) | dbSNP |
17 | g.42543490G= | CA2260530304 | NAGLU | c.1484G= (p.Arg495=) c.822G= (n.822G=) c.523G= c.653G= (p.Arg218=) c.485G= (p.Arg162=) c.1541G= (p.Arg514=) | |
17 | g.42543490G>T | CA399603963 | NAGLU | c.1484G>T (p.Arg495Met) c.822G>T (n.822G>T) c.523G>T c.653G>T (p.Arg218Met) c.485G>T (p.Arg162Met) c.1541G>T (p.Arg514Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543491G>A | CA500217001 | NAGLU | c.1485G>A (p.Arg495=) c.823G>A (n.823G>A) c.524G>A c.654G>A (p.Arg218=) c.486G>A (p.Arg162=) c.1542G>A (p.Arg514=) | |
17 | g.42543491G>C | CA399603966 | NAGLU | c.1485G>C (p.Arg495Ser) c.823G>C (n.823G>C) c.524G>C c.654G>C (p.Arg218Ser) c.486G>C (p.Arg162Ser) c.1542G>C (p.Arg514Ser) | |
17 | g.42543491G>T | CA399603968 | NAGLU | c.1485G>T (p.Arg495Ser) c.823G>T (n.823G>T) c.524G>T c.654G>T (p.Arg218Ser) c.486G>T (p.Arg162Ser) c.1542G>T (p.Arg514Ser) | ClinVar dbSNP gnomAD v4 |
17 | g.42543492C>A | CA399603970 | NAGLU | c.1486C>A (p.Leu496Ile) c.824C>A (n.824C>A) c.525C>A c.655C>A (p.Leu219Ile) c.487C>A (p.Leu163Ile) c.1543C>A (p.Leu515Ile) | gnomAD v4 |
17 | g.42543492C= | CA2260530305 | NAGLU | c.1486C= (p.Leu496=) c.824C= (n.824C=) c.525C= c.655C= (p.Leu219=) c.487C= (p.Leu163=) c.1543C= (p.Leu515=) | |
17 | g.42543492C>G | CA399603971 | NAGLU | c.1486C>G (p.Leu496Val) c.824C>G (n.824C>G) c.525C>G c.655C>G (p.Leu219Val) c.487C>G (p.Leu163Val) c.1543C>G (p.Leu515Val) | |
17 | g.42543492C>T | CA500217002 | NAGLU | c.1486C>T (p.Leu496=) c.824C>T (n.824C>T) c.525C>T c.655C>T (p.Leu219=) c.487C>T (p.Leu163=) c.1543C>T (p.Leu515=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543493del | CA2695225864 | NAGLU | c.1487del (p.Leu496HisfsTer30) c.825del (n.825del) c.526del c.656del (p.Leu219HisfsTer30) c.488del (p.Leu163HisfsTer30) c.1544del (p.Leu515HisfsTer30) | |
17 | g.42543493T>A | CA399603974 | NAGLU | c.1487T>A (p.Leu496Gln) c.825T>A (n.825T>A) c.526T>A c.656T>A (p.Leu219Gln) c.488T>A (p.Leu163Gln) c.1544T>A (p.Leu515Gln) | |
17 | g.42543493T>C | CA8577035 | NAGLU | c.1487T>C (p.Leu496Pro) c.825T>C (n.825T>C) c.526T>C c.656T>C (p.Leu219Pro) c.488T>C (p.Leu163Pro) c.1544T>C (p.Leu515Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543493T>G | CA399603975 | NAGLU | c.1487T>G (p.Leu496Arg) c.825T>G (n.825T>G) c.526T>G c.656T>G (p.Leu219Arg) c.488T>G (p.Leu163Arg) c.1544T>G (p.Leu515Arg) | |
17 | g.42543493T= | CA2260530306 | NAGLU | c.1487T= (p.Leu496=) c.825T= (n.825T=) c.526T= c.656T= (p.Leu219=) c.488T= (p.Leu163=) c.1544T= (p.Leu515=) | |
17 | g.42543494A= | CA2260530308 | NAGLU | c.1488A= (p.Leu496=) c.826A= (n.826A=) c.527A= c.657A= (p.Leu219=) c.489A= (p.Leu163=) c.1545A= (p.Leu515=) | |
17 | g.42543494A>C | CA500217004 | NAGLU | c.1488A>C (p.Leu496=) c.826A>C (n.826A>C) c.527A>C c.657A>C (p.Leu219=) c.489A>C (p.Leu163=) c.1545A>C (p.Leu515=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543494A>G | CA8577036 | NAGLU | c.1488A>G (p.Leu496=) c.826A>G (n.826A>G) c.527A>G c.657A>G (p.Leu219=) c.489A>G (p.Leu163=) c.1545A>G (p.Leu515=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543494A>T | CA500217003 | NAGLU | c.1488A>T (p.Leu496=) c.826A>T (n.826A>T) c.527A>T c.657A>T (p.Leu219=) c.489A>T (p.Leu163=) c.1545A>T (p.Leu515=) | |
17 | g.42543504_42543523dup | CA2260530307 | NAGLU | c.1498_1517dup (p.Glu507ValfsTer26) c.836_855dup (n.836_855dup) c.537_556dup c.667_686dup (p.Glu230ValfsTer26) c.499_518dup (p.Glu174ValfsTer26) c.1555_1574dup (p.Glu526ValfsTer26) | dbSNP |
17 | g.42543504_42543523del | CA2580094275 | NAGLU | c.1498_1517del (p.Ser500GlyfsTer9) c.836_855del (n.836_855del) c.537_556del c.667_686del (p.Ser223GlyfsTer9) c.499_518del (p.Ser167GlyfsTer9) c.1555_1574del (p.Ser519GlyfsTer9) | ClinVar |
17 | g.42543495C>A | CA399603979 | NAGLU | c.1489C>A (p.Leu497Met) c.827C>A (n.827C>A) c.528C>A c.658C>A (p.Leu220Met) c.490C>A (p.Leu164Met) c.1546C>A (p.Leu516Met) | gnomAD v4 |
17 | g.42543495C= | CA2260530309 | NAGLU | c.1489C= (p.Leu497=) c.827C= (n.827C=) c.528C= c.658C= (p.Leu220=) c.490C= (p.Leu164=) c.1546C= (p.Leu516=) | |
17 | g.42543495C>G | CA399603981 | NAGLU | c.1489C>G (p.Leu497Val) c.827C>G (n.827C>G) c.528C>G c.658C>G (p.Leu220Val) c.490C>G (p.Leu164Val) c.1546C>G (p.Leu516Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543495C>T | CA500217005 | NAGLU | c.1489C>T (p.Leu497=) c.827C>T (n.827C>T) c.528C>T c.658C>T (p.Leu220=) c.490C>T (p.Leu164=) c.1546C>T (p.Leu516=) | ClinVar dbSNP |
17 | g.42543496T>A | CA399603983 | NAGLU | c.1490T>A (p.Leu497Gln) c.828T>A (n.828T>A) c.529T>A c.659T>A (p.Leu220Gln) c.491T>A (p.Leu164Gln) c.1547T>A (p.Leu516Gln) | COSMIC |
17 | g.42543496T>C | CA399603985 | NAGLU | c.1490T>C (p.Leu497Pro) c.828T>C (n.828T>C) c.529T>C c.659T>C (p.Leu220Pro) c.491T>C (p.Leu164Pro) c.1547T>C (p.Leu516Pro) | ClinVar dbSNP |
17 | g.42543496T>G | CA399603987 | NAGLU | c.1490T>G (p.Leu497Arg) c.828T>G (n.828T>G) c.529T>G c.659T>G (p.Leu220Arg) c.491T>G (p.Leu164Arg) c.1547T>G (p.Leu516Arg) | |
17 | g.42543496T= | CA2260530310 | NAGLU | c.1490T= (p.Leu497=) c.828T= (n.828T=) c.529T= c.659T= (p.Leu220=) c.491T= (p.Leu164=) c.1547T= (p.Leu516=) | |
17 | g.42543497G>A | CA500217007 | NAGLU | c.1491G>A (p.Leu497=) c.829G>A (n.829G>A) c.530G>A c.660G>A (p.Leu220=) c.492G>A (p.Leu164=) c.1548G>A (p.Leu516=) | |
17 | g.42543497G>C | CA500217006 | NAGLU | c.1491G>C (p.Leu497=) c.829G>C (n.829G>C) c.530G>C c.660G>C (p.Leu220=) c.492G>C (p.Leu164=) c.1548G>C (p.Leu516=) | ClinVar |
17 | g.42543497G>T | CA500217008 | NAGLU | c.1491G>T (p.Leu497=) c.829G>T (n.829G>T) c.530G>T c.660G>T (p.Leu220=) c.492G>T (p.Leu164=) c.1548G>T (p.Leu516=) | |
17 | g.42543498C>A | CA399603989 | NAGLU | c.1492C>A (p.Leu498Ile) c.830C>A (n.830C>A) c.531C>A c.661C>A (p.Leu221Ile) c.493C>A (p.Leu165Ile) c.1549C>A (p.Leu517Ile) | gnomAD v4 |
17 | g.42543498C>G | CA399603990 | NAGLU | c.1492C>G (p.Leu498Val) c.830C>G (n.830C>G) c.531C>G c.661C>G (p.Leu221Val) c.493C>G (p.Leu165Val) c.1549C>G (p.Leu517Val) | |
17 | g.42543498C>T | CA399603992 | NAGLU | c.1492C>T (p.Leu498Phe) c.830C>T (n.830C>T) c.531C>T c.661C>T (p.Leu221Phe) c.493C>T (p.Leu165Phe) c.1549C>T (p.Leu517Phe) | gnomAD v4 |
17 | g.42543499T>A | CA399603995 | NAGLU | c.1493T>A (p.Leu498His) c.831T>A (n.831T>A) c.532T>A c.662T>A (p.Leu221His) c.494T>A (p.Leu165His) c.1550T>A (p.Leu517His) | |
17 | g.42543499T>C | CA399603996 | NAGLU | c.1493T>C (p.Leu498Pro) c.831T>C (n.831T>C) c.532T>C c.662T>C (p.Leu221Pro) c.494T>C (p.Leu165Pro) c.1550T>C (p.Leu517Pro) | ClinVar |
17 | g.42543499T>G | CA399603998 | NAGLU | c.1493T>G (p.Leu498Arg) c.831T>G (n.831T>G) c.532T>G c.662T>G (p.Leu221Arg) c.494T>G (p.Leu165Arg) c.1550T>G (p.Leu517Arg) | |
17 | g.42543500C>A | CA500217009 | NAGLU | c.1494C>A (p.Leu498=) c.832C>A (n.832C>A) c.533C>A c.663C>A (p.Leu221=) c.495C>A (p.Leu165=) c.1551C>A (p.Leu517=) | gnomAD v4 |
17 | g.42543500C>G | CA500217011 | NAGLU | c.1494C>G (p.Leu498=) c.832C>G (n.832C>G) c.533C>G c.663C>G (p.Leu221=) c.495C>G (p.Leu165=) c.1551C>G (p.Leu517=) | |
17 | g.42543500C>T | CA500217010 | NAGLU | c.1494C>T (p.Leu498=) c.832C>T (n.832C>T) c.533C>T c.663C>T (p.Leu221=) c.495C>T (p.Leu165=) c.1551C>T (p.Leu517=) | |
17 | g.42543501C>A | CA500217012 | NAGLU | c.1495C>A (p.Arg499=) c.833C>A (n.833C>A) c.534C>A c.664C>A (p.Arg222=) c.496C>A (p.Arg166=) c.1552C>A (p.Arg518=) | gnomAD v4 |
17 | g.42543501C= | CA2260530311 | NAGLU | c.1495C= (p.Arg499=) c.833C= (n.833C=) c.534C= c.664C= (p.Arg222=) c.496C= (p.Arg166=) c.1552C= (p.Arg518=) | |
17 | g.42543501C>G | CA399604000 | NAGLU | c.1495C>G (p.Arg499Gly) c.833C>G (n.833C>G) c.534C>G c.664C>G (p.Arg222Gly) c.496C>G (p.Arg166Gly) c.1552C>G (p.Arg518Gly) | |
17 | g.42543501C>T | CA8577037 | NAGLU | c.1495C>T (p.Arg499Trp) c.833C>T (n.833C>T) c.534C>T c.664C>T (p.Arg222Trp) c.496C>T (p.Arg166Trp) c.1552C>T (p.Arg518Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543502G>A | CA8577038 | NAGLU | c.1496G>A (p.Arg499Gln) c.834G>A (n.834G>A) c.535G>A c.665G>A (p.Arg222Gln) c.497G>A (p.Arg166Gln) c.1553G>A (p.Arg518Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543502G>C | CA399604004 | NAGLU | c.1496G>C (p.Arg499Pro) c.834G>C (n.834G>C) c.535G>C c.665G>C (p.Arg222Pro) c.497G>C (p.Arg166Pro) c.1553G>C (p.Arg518Pro) | gnomAD v4 |
17 | g.42543502G= | CA2260530312 | NAGLU | c.1496G= (p.Arg499=) c.834G= (n.834G=) c.535G= c.665G= (p.Arg222=) c.497G= (p.Arg166=) c.1553G= (p.Arg518=) | |
17 | g.42543502G>T | CA399604005 | NAGLU | c.1496G>T (p.Arg499Leu) c.834G>T (n.834G>T) c.535G>T c.665G>T (p.Arg222Leu) c.497G>T (p.Arg166Leu) c.1553G>T (p.Arg518Leu) | gnomAD v4 |
17 | g.42543503G>A | CA500217015 | NAGLU | c.1497G>A (p.Arg499=) c.835G>A (n.835G>A) c.536G>A c.666G>A (p.Arg222=) c.498G>A (p.Arg166=) c.1554G>A (p.Arg518=) | ClinVar |
17 | g.42543503G>C | CA500217013 | NAGLU | c.1497G>C (p.Arg499=) c.835G>C (n.835G>C) c.536G>C c.666G>C (p.Arg222=) c.498G>C (p.Arg166=) c.1554G>C (p.Arg518=) | |
17 | g.42543503G= | CA2260530313 | NAGLU | c.1497G= (p.Arg499=) c.835G= (n.835G=) c.536G= c.666G= (p.Arg222=) c.498G= (p.Arg166=) c.1554G= (p.Arg518=) | |
17 | g.42543503G>T | CA500217014 | NAGLU | c.1497G>T (p.Arg499=) c.835G>T (n.835G>T) c.536G>T c.666G>T (p.Arg222=) c.498G>T (p.Arg166=) c.1554G>T (p.Arg518=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543504A>C | CA399604008 | NAGLU | c.1498A>C (p.Ser500Arg) c.836A>C (n.836A>C) c.537A>C c.667A>C (p.Ser223Arg) c.499A>C (p.Ser167Arg) c.1555A>C (p.Ser519Arg) | |
17 | g.42543504A>G | CA399604010 | NAGLU | c.1498A>G (p.Ser500Gly) c.836A>G (n.836A>G) c.537A>G c.667A>G (p.Ser223Gly) c.499A>G (p.Ser167Gly) c.1555A>G (p.Ser519Gly) | gnomAD v4 |
17 | g.42543504A>T | CA399604011 | NAGLU | c.1498A>T (p.Ser500Cys) c.836A>T (n.836A>T) c.537A>T c.667A>T (p.Ser223Cys) c.499A>T (p.Ser167Cys) c.1555A>T (p.Ser519Cys) | gnomAD v4 |
17 | g.42543505G>A | CA399604013 | NAGLU | c.1499G>A (p.Ser500Asn) c.837G>A (n.837G>A) c.538G>A c.668G>A (p.Ser223Asn) c.500G>A (p.Ser167Asn) c.1556G>A (p.Ser519Asn) | |
17 | g.42543505G>C | CA399604014 | NAGLU | c.1499G>C (p.Ser500Thr) c.837G>C (n.837G>C) c.538G>C c.668G>C (p.Ser223Thr) c.500G>C (p.Ser167Thr) c.1556G>C (p.Ser519Thr) | |
17 | g.42543505G>T | CA399604016 | NAGLU | c.1499G>T (p.Ser500Ile) c.837G>T (n.837G>T) c.538G>T c.668G>T (p.Ser223Ile) c.500G>T (p.Ser167Ile) c.1556G>T (p.Ser519Ile) | gnomAD v4 |
17 | g.42543506T>A | CA399604017 | NAGLU | c.1500T>A (p.Ser500Arg) c.838T>A (n.838T>A) c.539T>A c.669T>A (p.Ser223Arg) c.501T>A (p.Ser167Arg) c.1557T>A (p.Ser519Arg) | |
17 | g.42543506T>C | CA500217016 | NAGLU | c.1500T>C (p.Ser500=) c.838T>C (n.838T>C) c.539T>C c.669T>C (p.Ser223=) c.501T>C (p.Ser167=) c.1557T>C (p.Ser519=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543506T>G | CA399604019 | NAGLU | c.1500T>G (p.Ser500Arg) c.838T>G (n.838T>G) c.539T>G c.669T>G (p.Ser223Arg) c.501T>G (p.Ser167Arg) c.1557T>G (p.Ser519Arg) | dbSNP |
17 | g.42543506T= | CA2260530314 | NAGLU | c.1500T= (p.Ser500=) c.838T= (n.838T=) c.539T= c.669T= (p.Ser223=) c.501T= (p.Ser167=) c.1557T= (p.Ser519=) | |
17 | g.42543507G>A | CA399604023 | NAGLU | c.1501G>A (p.Val501Met) c.839G>A (n.839G>A) c.540G>A c.670G>A (p.Val224Met) c.502G>A (p.Val168Met) c.1558G>A (p.Val520Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543507G>C | CA399604024 | NAGLU | c.1501G>C (p.Val501Leu) c.839G>C (n.839G>C) c.540G>C c.670G>C (p.Val224Leu) c.502G>C (p.Val168Leu) c.1558G>C (p.Val520Leu) | |
17 | g.42543507G= | CA2260530315 | NAGLU | c.1501G= (p.Val501=) c.839G= (n.839G=) c.540G= c.670G= (p.Val224=) c.502G= (p.Val168=) c.1558G= (p.Val520=) | |
17 | g.42543507G>T | CA399604021 | NAGLU | c.1501G>T (p.Val501Leu) c.839G>T (n.839G>T) c.540G>T c.670G>T (p.Val224Leu) c.502G>T (p.Val168Leu) c.1558G>T (p.Val520Leu) | gnomAD v4 |
17 | g.42543508T>A | CA399604027 | NAGLU | c.1502T>A (p.Val501Glu) c.840T>A (n.840T>A) c.541T>A c.671T>A (p.Val224Glu) c.503T>A (p.Val168Glu) c.1559T>A (p.Val520Glu) | |
17 | g.42543508T>C | CA399604029 | NAGLU | c.1502T>C (p.Val501Ala) c.840T>C (n.840T>C) c.541T>C c.671T>C (p.Val224Ala) c.503T>C (p.Val168Ala) c.1559T>C (p.Val520Ala) | gnomAD v4 |
17 | g.42543508T>G | CA399604030 | NAGLU | c.1502T>G (p.Val501Gly) c.840T>G (n.840T>G) c.541T>G c.671T>G (p.Val224Gly) c.503T>G (p.Val168Gly) c.1559T>G (p.Val520Gly) | |
17 | g.42543509G>A | CA8577039 | NAGLU | c.1503G>A (p.Val501=) c.841G>A (n.841G>A) c.542G>A c.672G>A (p.Val224=) c.504G>A (p.Val168=) c.1560G>A (p.Val520=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543509G>C | CA500217017 | NAGLU | c.1503G>C (p.Val501=) c.841G>C (n.841G>C) c.542G>C c.672G>C (p.Val224=) c.504G>C (p.Val168=) c.1560G>C (p.Val520=) | |
17 | g.42543509G= | CA2260530316 | NAGLU | c.1503G= (p.Val501=) c.841G= (n.841G=) c.542G= c.672G= (p.Val224=) c.504G= (p.Val168=) c.1560G= (p.Val520=) | |
17 | g.42543509G>T | CA500217018 | NAGLU | c.1503G>T (p.Val501=) c.841G>T (n.841G>T) c.542G>T c.672G>T (p.Val224=) c.504G>T (p.Val168=) c.1560G>T (p.Val520=) | gnomAD v4 |
17 | g.42543510T>A | CA399604033 | NAGLU | c.1504T>A (p.Tyr502Asn) c.842T>A (n.842T>A) c.543T>A c.673T>A (p.Tyr225Asn) c.505T>A (p.Tyr169Asn) c.1561T>A (p.Tyr521Asn) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543510T>C | CA399604035 | NAGLU | c.1504T>C (p.Tyr502His) c.842T>C (n.842T>C) c.543T>C c.673T>C (p.Tyr225His) c.505T>C (p.Tyr169His) c.1561T>C (p.Tyr521His) | gnomAD v4 |
17 | g.42543510T>G | CA399604037 | NAGLU | c.1504T>G (p.Tyr502Asp) c.842T>G (n.842T>G) c.543T>G c.673T>G (p.Tyr225Asp) c.505T>G (p.Tyr169Asp) c.1561T>G (p.Tyr521Asp) | |
17 | g.42543510T= | CA2260530317 | NAGLU | c.1504T= (p.Tyr502=) c.842T= (n.842T=) c.543T= c.673T= (p.Tyr225=) c.505T= (p.Tyr169=) c.1561T= (p.Tyr521=) | |
17 | g.42543511A= | CA2260530318 | NAGLU | c.1505A= (p.Tyr502=) c.843A= (n.843A=) c.544A= c.674A= (p.Tyr225=) c.506A= (p.Tyr169=) c.1562A= (p.Tyr521=) | |
17 | g.42543511A>C | CA399604039 | NAGLU | c.1505A>C (p.Tyr502Ser) c.843A>C (n.843A>C) c.544A>C c.674A>C (p.Tyr225Ser) c.506A>C (p.Tyr169Ser) c.1562A>C (p.Tyr521Ser) | |
17 | g.42543511A>G | CA399604043 | NAGLU | c.1505A>G (p.Tyr502Cys) c.843A>G (n.843A>G) c.544A>G c.674A>G (p.Tyr225Cys) c.506A>G (p.Tyr169Cys) c.1562A>G (p.Tyr521Cys) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42543511A>T | CA399604041 | NAGLU | c.1505A>T (p.Tyr502Phe) c.843A>T (n.843A>T) c.544A>T c.674A>T (p.Tyr225Phe) c.506A>T (p.Tyr169Phe) c.1562A>T (p.Tyr521Phe) | |
17 | g.42543512C>A | CA399604045 | NAGLU | c.1506C>A (p.Tyr502Ter) c.844C>A (n.844C>A) c.545C>A c.675C>A (p.Tyr225Ter) c.507C>A (p.Tyr169Ter) c.1563C>A (p.Tyr521Ter) | gnomAD v4 |
17 | g.42543512C= | CA2260530319 | NAGLU | c.1506C= (p.Tyr502=) c.844C= (n.844C=) c.545C= c.675C= (p.Tyr225=) c.507C= (p.Tyr169=) c.1563C= (p.Tyr521=) | |
17 | g.42543512C>G | CA399604047 | NAGLU | c.1506C>G (p.Tyr502Ter) c.844C>G (n.844C>G) c.545C>G c.675C>G (p.Tyr225Ter) c.507C>G (p.Tyr169Ter) c.1563C>G (p.Tyr521Ter) | |
17 | g.42543512C>T | CA500217019 | NAGLU | c.1506C>T (p.Tyr502=) c.844C>T (n.844C>T) c.545C>T c.675C>T (p.Tyr225=) c.507C>T (p.Tyr169=) c.1563C>T (p.Tyr521=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543513A>C | CA399604049 | NAGLU | c.1507A>C (p.Asn503His) c.845A>C (n.845A>C) c.546A>C c.676A>C (p.Asn226His) c.508A>C (p.Asn170His) c.1564A>C (p.Asn522His) | |
17 | g.42543513A>G | CA399604051 | NAGLU | c.1507A>G (p.Asn503Asp) c.845A>G (n.845A>G) c.546A>G c.676A>G (p.Asn226Asp) c.508A>G (p.Asn170Asp) c.1564A>G (p.Asn522Asp) | |
17 | g.42543513A>T | CA399604052 | NAGLU | c.1507A>T (p.Asn503Tyr) c.845A>T (n.845A>T) c.546A>T c.676A>T (p.Asn226Tyr) c.508A>T (p.Asn170Tyr) c.1564A>T (p.Asn522Tyr) | |
17 | g.42543514A= | CA2260530320 | NAGLU | c.1508A= (p.Asn503=) c.846A= (n.846A=) c.547A= c.677A= (p.Asn226=) c.509A= (p.Asn170=) c.1565A= (p.Asn522=) | |
17 | g.42543514A>C | CA399604054 | NAGLU | c.1508A>C (p.Asn503Thr) c.846A>C (n.846A>C) c.547A>C c.677A>C (p.Asn226Thr) c.509A>C (p.Asn170Thr) c.1565A>C (p.Asn522Thr) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42543514A>G | CA8577040 | NAGLU | c.1508A>G (p.Asn503Ser) c.846A>G (n.846A>G) c.547A>G c.677A>G (p.Asn226Ser) c.509A>G (p.Asn170Ser) c.1565A>G (p.Asn522Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543514A>T | CA399604056 | NAGLU | c.1508A>T (p.Asn503Ile) c.846A>T (n.846A>T) c.547A>T c.677A>T (p.Asn226Ile) c.509A>T (p.Asn170Ile) c.1565A>T (p.Asn522Ile) | |
17 | g.42543515C>A | CA399604059 | NAGLU | c.1509C>A (p.Asn503Lys) c.847C>A (n.847C>A) c.548C>A c.678C>A (p.Asn226Lys) c.510C>A (p.Asn170Lys) c.1566C>A (p.Asn522Lys) | ClinVar dbSNP |
17 | g.42543515C= | CA2260530321 | NAGLU | c.1509C= (p.Asn503=) c.847C= (n.847C=) c.548C= c.678C= (p.Asn226=) c.510C= (p.Asn170=) c.1566C= (p.Asn522=) | |
17 | g.42543515C>G | CA399604061 | NAGLU | c.1509C>G (p.Asn503Lys) c.847C>G (n.847C>G) c.548C>G c.678C>G (p.Asn226Lys) c.510C>G (p.Asn170Lys) c.1566C>G (p.Asn522Lys) | |
17 | g.42543515C>T | CA8577041 | NAGLU | c.1509C>T (p.Asn503=) c.847C>T (n.847C>T) c.548C>T c.678C>T (p.Asn226=) c.510C>T (p.Asn170=) c.1566C>T (p.Asn522=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42543516T>A | CA399604065 | NAGLU | c.1510T>A (p.Cys504Ser) c.848T>A (n.848T>A) c.549T>A c.679T>A (p.Cys227Ser) c.511T>A (p.Cys171Ser) c.1567T>A (p.Cys523Ser) | |
17 | g.42543516T>C | CA399604066 | NAGLU | c.1510T>C (p.Cys504Arg) c.848T>C (n.848T>C) c.549T>C c.679T>C (p.Cys227Arg) c.511T>C (p.Cys171Arg) c.1567T>C (p.Cys523Arg) | |
17 | g.42543516T>G | CA399604067 | NAGLU | c.1510T>G (p.Cys504Gly) c.848T>G (n.848T>G) c.549T>G c.679T>G (p.Cys227Gly) c.511T>G (p.Cys171Gly) c.1567T>G (p.Cys523Gly) | |
17 | g.42543517G>A | CA399604069 | NAGLU | c.1511G>A (p.Cys504Tyr) c.849G>A (n.849G>A) c.550G>A c.680G>A (p.Cys227Tyr) c.512G>A (p.Cys171Tyr) c.1568G>A (p.Cys523Tyr) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42543517G>C | CA399604070 | NAGLU | c.1511G>C (p.Cys504Ser) c.849G>C (n.849G>C) c.550G>C c.680G>C (p.Cys227Ser) c.512G>C (p.Cys171Ser) c.1568G>C (p.Cys523Ser) | |
17 | g.42543517G= | CA2260530322 | NAGLU | c.1511G= (p.Cys504=) c.849G= (n.849G=) c.550G= c.680G= (p.Cys227=) c.512G= (p.Cys171=) c.1568G= (p.Cys523=) | |
17 | g.42543517G>T | CA399604072 | NAGLU | c.1511G>T (p.Cys504Phe) c.849G>T (n.849G>T) c.550G>T c.680G>T (p.Cys227Phe) c.512G>T (p.Cys171Phe) c.1568G>T (p.Cys523Phe) | gnomAD v4 |
17 | g.42543518C>A | CA399604074 | NAGLU | c.1512C>A (p.Cys504Ter) c.850C>A (n.850C>A) c.551C>A c.681C>A (p.Cys227Ter) c.513C>A (p.Cys171Ter) c.1569C>A (p.Cys523Ter) | |
17 | g.42543518C= | CA2260530323 | NAGLU | c.1512C= (p.Cys504=) c.850C= (n.850C=) c.551C= c.681C= (p.Cys227=) c.513C= (p.Cys171=) c.1569C= (p.Cys523=) | |
17 | g.42543518C>G | CA399604076 | NAGLU | c.1512C>G (p.Cys504Trp) c.850C>G (n.850C>G) c.551C>G c.681C>G (p.Cys227Trp) c.513C>G (p.Cys171Trp) c.1569C>G (p.Cys523Trp) | |
17 | g.42543518C>T | CA8577042 | NAGLU | c.1512C>T (p.Cys504=) c.850C>T (n.850C>T) c.551C>T c.681C>T (p.Cys227=) c.513C>T (p.Cys171=) c.1569C>T (p.Cys523=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42543519T>A | CA399604077 | NAGLU | c.1513T>A (p.Ser505Thr) c.851T>A (n.851T>A) c.552T>A c.682T>A (p.Ser228Thr) c.514T>A (p.Ser172Thr) c.1570T>A (p.Ser524Thr) | |
17 | g.42543519T>C | CA399604079 | NAGLU | c.1513T>C (p.Ser505Pro) c.851T>C (n.851T>C) c.552T>C c.682T>C (p.Ser228Pro) c.514T>C (p.Ser172Pro) c.1570T>C (p.Ser524Pro) | |
17 | g.42543519T>G | CA399604078 | NAGLU | c.1513T>G (p.Ser505Ala) c.851T>G (n.851T>G) c.552T>G c.682T>G (p.Ser228Ala) c.514T>G (p.Ser172Ala) c.1570T>G (p.Ser524Ala) | gnomAD v4 |
17 | g.42543520C>A | CA399604080 | NAGLU | c.1514C>A (p.Ser505Tyr) c.852C>A (n.852C>A) c.553C>A c.683C>A (p.Ser228Tyr) c.515C>A (p.Ser172Tyr) c.1571C>A (p.Ser524Tyr) | dbSNP |
17 | g.42543520C= | CA2260530324 | NAGLU | c.1514C= (p.Ser505=) c.852C= (n.852C=) c.553C= c.683C= (p.Ser228=) c.515C= (p.Ser172=) c.1571C= (p.Ser524=) | |
17 | g.42543520C>G | CA399604081 | NAGLU | c.1514C>G (p.Ser505Cys) c.852C>G (n.852C>G) c.553C>G c.683C>G (p.Ser228Cys) c.515C>G (p.Ser172Cys) c.1571C>G (p.Ser524Cys) | |
17 | g.42543520C>T | CA399604082 | NAGLU | c.1514C>T (p.Ser505Phe) c.852C>T (n.852C>T) c.553C>T c.683C>T (p.Ser228Phe) c.515C>T (p.Ser172Phe) c.1571C>T (p.Ser524Phe) | |
17 | g.42543521C>A | CA500217021 | NAGLU | c.1515C>A (p.Ser505=) c.853C>A (n.853C>A) c.554C>A c.684C>A (p.Ser228=) c.516C>A (p.Ser172=) c.1572C>A (p.Ser524=) | |
17 | g.42543521C= | CA2260530325 | NAGLU | c.1515C= (p.Ser505=) c.853C= (n.853C=) c.554C= c.684C= (p.Ser228=) c.516C= (p.Ser172=) c.1572C= (p.Ser524=) | |
17 | g.42543521C>G | CA500217020 | NAGLU | c.1515C>G (p.Ser505=) c.853C>G (n.853C>G) c.554C>G c.684C>G (p.Ser228=) c.516C>G (p.Ser172=) c.1572C>G (p.Ser524=) | |
17 | g.42543521C>T | CA8577043 | NAGLU | c.1515C>T (p.Ser505=) c.853C>T (n.853C>T) c.554C>T c.684C>T (p.Ser228=) c.516C>T (p.Ser172=) c.1572C>T (p.Ser524=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543522G>A | CA399604083 | NAGLU | c.1516G>A (p.Gly506Arg) c.854G>A (n.854G>A) c.555G>A c.685G>A (p.Gly229Arg) c.517G>A (p.Gly173Arg) c.1573G>A (p.Gly525Arg) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543522G>C | CA399604084 | NAGLU | c.1516G>C (p.Gly506Arg) c.854G>C (n.854G>C) c.555G>C c.685G>C (p.Gly229Arg) c.517G>C (p.Gly173Arg) c.1573G>C (p.Gly525Arg) | |
17 | g.42543522G= | CA2260530326 | NAGLU | c.1516G= (p.Gly506=) c.854G= (n.854G=) c.555G= c.685G= (p.Gly229=) c.517G= (p.Gly173=) c.1573G= (p.Gly525=) | |
17 | g.42543522G>T | CA399604085 | NAGLU | c.1516G>T (p.Gly506Trp) c.854G>T (n.854G>T) c.555G>T c.685G>T (p.Gly229Trp) c.517G>T (p.Gly173Trp) c.1573G>T (p.Gly525Trp) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543523G>A | CA8577044 | NAGLU | c.1517G>A (p.Gly506Glu) c.855G>A (n.855G>A) c.556G>A c.686G>A (p.Gly229Glu) c.518G>A (p.Gly173Glu) c.1574G>A (p.Gly525Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42543523G>C | CA399604086 | NAGLU | c.1517G>C (p.Gly506Ala) c.855G>C (n.855G>C) c.556G>C c.686G>C (p.Gly229Ala) c.518G>C (p.Gly173Ala) c.1574G>C (p.Gly525Ala) | |
17 | g.42543523G= | CA2260530327 | NAGLU | c.1517G= (p.Gly506=) c.855G= (n.855G=) c.556G= c.686G= (p.Gly229=) c.518G= (p.Gly173=) c.1574G= (p.Gly525=) | |
17 | g.42543523G>T | CA399604087 | NAGLU | c.1517G>T (p.Gly506Val) c.855G>T (n.855G>T) c.556G>T c.686G>T (p.Gly229Val) c.518G>T (p.Gly173Val) c.1574G>T (p.Gly525Val) | gnomAD v4 |
17 | g.42543524G>A | CA500217022 | NAGLU | c.1518G>A (p.Gly506=) c.856G>A (n.856G>A) c.557G>A c.687G>A (p.Gly229=) c.519G>A (p.Gly173=) c.1575G>A (p.Gly525=) | |
17 | g.42543524G>C | CA500217024 | NAGLU | c.1518G>C (p.Gly506=) c.856G>C (n.856G>C) c.557G>C c.687G>C (p.Gly229=) c.519G>C (p.Gly173=) c.1575G>C (p.Gly525=) | |
17 | g.42543524G>T | CA500217023 | NAGLU | c.1518G>T (p.Gly506=) c.856G>T (n.856G>T) c.557G>T c.687G>T (p.Gly229=) c.519G>T (p.Gly173=) c.1575G>T (p.Gly525=) | gnomAD v4 |
17 | g.42543525G>A | CA399604088 | NAGLU | c.1519G>A (p.Glu507Lys) c.857G>A (n.857G>A) c.558G>A c.688G>A (p.Glu230Lys) c.520G>A (p.Glu174Lys) c.1576G>A (p.Glu526Lys) | dbSNP |
17 | g.42543525G>C | CA399604089 | NAGLU | c.1519G>C (p.Glu507Gln) c.857G>C (n.857G>C) c.558G>C c.688G>C (p.Glu230Gln) c.520G>C (p.Glu174Gln) c.1576G>C (p.Glu526Gln) | |
17 | g.42543525G= | CA2260530328 | NAGLU | c.1519G= (p.Glu507=) c.857G= (n.857G=) c.558G= c.688G= (p.Glu230=) c.520G= (p.Glu174=) c.1576G= (p.Glu526=) | |
17 | g.42543525G>T | CA399604090 | NAGLU | c.1519G>T (p.Glu507Ter) c.857G>T (n.857G>T) c.558G>T c.688G>T (p.Glu230Ter) c.520G>T (p.Glu174Ter) c.1576G>T (p.Glu526Ter) | |
17 | g.42543526A= | CA2260530329 | NAGLU | c.1520A= (p.Glu507=) c.858A= (n.858A=) c.559A= c.689A= (p.Glu230=) c.521A= (p.Glu174=) c.1577A= (p.Glu526=) | |
17 | g.42543526A>C | CA290780720 | NAGLU | c.1520A>C (p.Glu507Ala) c.858A>C (n.858A>C) c.559A>C c.689A>C (p.Glu230Ala) c.521A>C (p.Glu174Ala) c.1577A>C (p.Glu526Ala) | dbSNP |
17 | g.42543526A>G | CA399604091 | NAGLU | c.1520A>G (p.Glu507Gly) c.858A>G (n.858A>G) c.559A>G c.689A>G (p.Glu230Gly) c.521A>G (p.Glu174Gly) c.1577A>G (p.Glu526Gly) | gnomAD v4 |
17 | g.42543526A>T | CA399604092 | NAGLU | c.1520A>T (p.Glu507Val) c.858A>T (n.858A>T) c.559A>T c.689A>T (p.Glu230Val) c.521A>T (p.Glu174Val) c.1577A>T (p.Glu526Val) | gnomAD v4 |
17 | g.42543527G>A | CA500217025 | NAGLU | c.1521G>A (p.Glu507=) c.859G>A (n.859G>A) c.560G>A c.690G>A (p.Glu230=) c.522G>A (p.Glu174=) c.1578G>A (p.Glu526=) | gnomAD v4 |
17 | g.42543527G>C | CA399604093 | NAGLU | c.1521G>C (p.Glu507Asp) c.859G>C (n.859G>C) c.560G>C c.690G>C (p.Glu230Asp) c.522G>C (p.Glu174Asp) c.1578G>C (p.Glu526Asp) | |
17 | g.42543527G>T | CA399604094 | NAGLU | c.1521G>T (p.Glu507Asp) c.859G>T (n.859G>T) c.560G>T c.690G>T (p.Glu230Asp) c.522G>T (p.Glu174Asp) c.1578G>T (p.Glu526Asp) | gnomAD v4 |
17 | g.42543528G>A | CA399604095 | NAGLU | c.1522G>A (p.Ala508Thr) c.860G>A (n.860G>A) c.561G>A c.691G>A (p.Ala231Thr) c.523G>A (p.Ala175Thr) c.1579G>A (p.Ala527Thr) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543528G>C | CA399604096 | NAGLU | c.1522G>C (p.Ala508Pro) c.860G>C (n.860G>C) c.561G>C c.691G>C (p.Ala231Pro) c.523G>C (p.Ala175Pro) c.1579G>C (p.Ala527Pro) | |
17 | g.42543528G= | CA2260530330 | NAGLU | c.1522G= (p.Ala508=) c.860G= (n.860G=) c.561G= c.691G= (p.Ala231=) c.523G= (p.Ala175=) c.1579G= (p.Ala527=) | |
17 | g.42543528G>T | CA399604097 | NAGLU | c.1522G>T (p.Ala508Ser) c.860G>T (n.860G>T) c.561G>T c.691G>T (p.Ala231Ser) c.523G>T (p.Ala175Ser) c.1579G>T (p.Ala527Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543529C>A | CA399604098 | NAGLU | c.1523C>A (p.Ala508Asp) c.861C>A (n.861C>A) c.562C>A c.692C>A (p.Ala231Asp) c.524C>A (p.Ala175Asp) c.1580C>A (p.Ala527Asp) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543529C= | CA2260530331 | NAGLU | c.1523C= (p.Ala508=) c.861C= (n.861C=) c.562C= c.692C= (p.Ala231=) c.524C= (p.Ala175=) c.1580C= (p.Ala527=) | |
17 | g.42543529C>G | CA399604099 | NAGLU | c.1523C>G (p.Ala508Gly) c.861C>G (n.861C>G) c.562C>G c.692C>G (p.Ala231Gly) c.524C>G (p.Ala175Gly) c.1580C>G (p.Ala527Gly) | |
17 | g.42543529C>T | CA399604100 | NAGLU | c.1523C>T (p.Ala508Val) c.861C>T (n.861C>T) c.562C>T c.692C>T (p.Ala231Val) c.524C>T (p.Ala175Val) c.1580C>T (p.Ala527Val) | |
17 | g.42543530C>A | CA500217028 | NAGLU | c.1524C>A (p.Ala508=) c.862C>A (n.862C>A) c.563C>A c.693C>A (p.Ala231=) c.525C>A (p.Ala175=) c.1581C>A (p.Ala527=) | |
17 | g.42543530C= | CA2260530332 | NAGLU | c.1524C= (p.Ala508=) c.862C= (n.862C=) c.563C= c.693C= (p.Ala231=) c.525C= (p.Ala175=) c.1581C= (p.Ala527=) | |
17 | g.42543530C>G | CA500217026 | NAGLU | c.1524C>G (p.Ala508=) c.862C>G (n.862C>G) c.563C>G c.693C>G (p.Ala231=) c.525C>G (p.Ala175=) c.1581C>G (p.Ala527=) | dbSNP gnomAD v2 |
17 | g.42543530C>T | CA500217027 | NAGLU | c.1524C>T (p.Ala508=) c.862C>T (n.862C>T) c.563C>T c.693C>T (p.Ala231=) c.525C>T (p.Ala175=) c.1581C>T (p.Ala527=) | ClinVar gnomAD v4 |
17 | g.42543531T>A | CA399604101 | NAGLU | c.1525T>A (p.Cys509Ser) c.863T>A (n.863T>A) c.564T>A c.694T>A (p.Cys232Ser) c.526T>A (p.Cys176Ser) c.1582T>A (p.Cys528Ser) | |
17 | g.42543531T>C | CA399604102 | NAGLU | c.1525T>C (p.Cys509Arg) c.863T>C (n.863T>C) c.564T>C c.694T>C (p.Cys232Arg) c.526T>C (p.Cys176Arg) c.1582T>C (p.Cys528Arg) | gnomAD v4 |
17 | g.42543531T>G | CA399604103 | NAGLU | c.1525T>G (p.Cys509Gly) c.863T>G (n.863T>G) c.564T>G c.694T>G (p.Cys232Gly) c.526T>G (p.Cys176Gly) c.1582T>G (p.Cys528Gly) | |
17 | g.42543532G>A | CA8577045 | NAGLU | c.1526G>A (p.Cys509Tyr) c.864G>A (n.864G>A) c.565G>A c.695G>A (p.Cys232Tyr) c.527G>A (p.Cys176Tyr) c.1583G>A (p.Cys528Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543532G>C | CA399604105 | NAGLU | c.1526G>C (p.Cys509Ser) c.864G>C (n.864G>C) c.565G>C c.695G>C (p.Cys232Ser) c.527G>C (p.Cys176Ser) c.1583G>C (p.Cys528Ser) | |
17 | g.42543532G= | CA2260530333 | NAGLU | c.1526G= (p.Cys509=) c.864G= (n.864G=) c.565G= c.695G= (p.Cys232=) c.527G= (p.Cys176=) c.1583G= (p.Cys528=) | |
17 | g.42543532G>T | CA399604104 | NAGLU | c.1526G>T (p.Cys509Phe) c.864G>T (n.864G>T) c.565G>T c.695G>T (p.Cys232Phe) c.527G>T (p.Cys176Phe) c.1583G>T (p.Cys528Phe) | gnomAD v4 |
17 | g.42543533C>A | CA399604106 | NAGLU | c.1527C>A (p.Cys509Ter) c.865C>A (n.865C>A) c.566C>A c.696C>A (p.Cys232Ter) c.528C>A (p.Cys176Ter) c.1584C>A (p.Cys528Ter) | |
17 | g.42543533C>G | CA399604107 | NAGLU | c.1527C>G (p.Cys509Trp) c.865C>G (n.865C>G) c.566C>G c.696C>G (p.Cys232Trp) c.528C>G (p.Cys176Trp) c.1584C>G (p.Cys528Trp) | gnomAD v4 |
17 | g.42543533C>T | CA500217029 | NAGLU | c.1527C>T (p.Cys509=) c.865C>T (n.865C>T) c.566C>T c.696C>T (p.Cys232=) c.528C>T (p.Cys176=) c.1584C>T (p.Cys528=) | |
17 | g.42543534A= | CA2260530334 | NAGLU | c.1528A= (p.Arg510=) c.866A= (n.866A=) c.567A= c.697A= (p.Arg233=) c.529A= (p.Arg177=) c.1585A= (p.Arg529=) | |
17 | g.42543534A>C | CA500217030 | NAGLU | c.1528A>C (p.Arg510=) c.866A>C (n.866A>C) c.567A>C c.697A>C (p.Arg233=) c.529A>C (p.Arg177=) c.1585A>C (p.Arg529=) | |
17 | g.42543534A>G | CA399604108 | NAGLU | c.1528A>G (p.Arg510Gly) c.866A>G (n.866A>G) c.567A>G c.697A>G (p.Arg233Gly) c.529A>G (p.Arg177Gly) c.1585A>G (p.Arg529Gly) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543534A>T | CA399604109 | NAGLU | c.1528A>T (p.Arg510Trp) c.866A>T (n.866A>T) c.567A>T c.697A>T (p.Arg233Trp) c.529A>T (p.Arg177Trp) c.1585A>T (p.Arg529Trp) | |
17 | g.42543535G>A | CA399604110 | NAGLU | c.1529G>A (p.Arg510Lys) c.867G>A (n.867G>A) c.568G>A c.698G>A (p.Arg233Lys) c.530G>A (p.Arg177Lys) c.1586G>A (p.Arg529Lys) | |
17 | g.42543535G>C | CA399604111 | NAGLU | c.1529G>C (p.Arg510Thr) c.867G>C (n.867G>C) c.568G>C c.698G>C (p.Arg233Thr) c.530G>C (p.Arg177Thr) c.1586G>C (p.Arg529Thr) | |
17 | g.42543535G>T | CA399604112 | NAGLU | c.1529G>T (p.Arg510Met) c.867G>T (n.867G>T) c.568G>T c.698G>T (p.Arg233Met) c.530G>T (p.Arg177Met) c.1586G>T (p.Arg529Met) | gnomAD v4 |
17 | g.42543536G>A | CA500217031 | NAGLU | c.1530G>A (p.Arg510=) c.868G>A (n.868G>A) c.569G>A c.699G>A (p.Arg233=) c.531G>A (p.Arg177=) c.1587G>A (p.Arg529=) | |
17 | g.42543536G>C | CA399604113 | NAGLU | c.1530G>C (p.Arg510Ser) c.868G>C (n.868G>C) c.569G>C c.699G>C (p.Arg233Ser) c.531G>C (p.Arg177Ser) c.1587G>C (p.Arg529Ser) | |
17 | g.42543536G>T | CA399604114 | NAGLU | c.1530G>T (p.Arg510Ser) c.868G>T (n.868G>T) c.569G>T c.699G>T (p.Arg233Ser) c.531G>T (p.Arg177Ser) c.1587G>T (p.Arg529Ser) | |
17 | g.42543537G>A | CA399604115 | NAGLU | c.1531G>A (p.Gly511Ser) c.869G>A (n.869G>A) c.570G>A c.700G>A (p.Gly234Ser) c.532G>A (p.Gly178Ser) c.1588G>A (p.Gly530Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543537G>C | CA399604116 | NAGLU | c.1531G>C (p.Gly511Arg) c.869G>C (n.869G>C) c.570G>C c.700G>C (p.Gly234Arg) c.532G>C (p.Gly178Arg) c.1588G>C (p.Gly530Arg) | |
17 | g.42543537G= | CA2260530335 | NAGLU | c.1531G= (p.Gly511=) c.869G= (n.869G=) c.570G= c.700G= (p.Gly234=) c.532G= (p.Gly178=) c.1588G= (p.Gly530=) | |
17 | g.42543537G>T | CA290780734 | NAGLU | c.1531G>T (p.Gly511Cys) c.869G>T (n.869G>T) c.570G>T c.700G>T (p.Gly234Cys) c.532G>T (p.Gly178Cys) c.1588G>T (p.Gly530Cys) | dbSNP gnomAD v4 |
17 | g.42543538G>A | CA399604117 | NAGLU | c.1532G>A (p.Gly511Asp) c.870G>A (n.870G>A) c.571G>A c.701G>A (p.Gly234Asp) c.533G>A (p.Gly178Asp) c.1589G>A (p.Gly530Asp) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543538G>C | CA399604118 | NAGLU | c.1532G>C (p.Gly511Ala) c.870G>C (n.870G>C) c.571G>C c.701G>C (p.Gly234Ala) c.533G>C (p.Gly178Ala) c.1589G>C (p.Gly530Ala) | |
17 | g.42543538G= | CA2260530336 | NAGLU | c.1532G= (p.Gly511=) c.870G= (n.870G=) c.571G= c.701G= (p.Gly234=) c.533G= (p.Gly178=) c.1589G= (p.Gly530=) | |
17 | g.42543538G>T | CA399604119 | NAGLU | c.1532G>T (p.Gly511Val) c.870G>T (n.870G>T) c.571G>T c.701G>T (p.Gly234Val) c.533G>T (p.Gly178Val) c.1589G>T (p.Gly530Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543539C>A | CA500217033 | NAGLU | c.1533C>A (p.Gly511=) c.871C>A (n.871C>A) c.572C>A c.702C>A (p.Gly234=) c.534C>A (p.Gly178=) c.1590C>A (p.Gly530=) | |
17 | g.42543539C= | CA2260530337 | NAGLU | c.1533C= (p.Gly511=) c.871C= (n.871C=) c.572C= c.702C= (p.Gly234=) c.534C= (p.Gly178=) c.1590C= (p.Gly530=) | |
17 | g.42543539C>G | CA500217032 | NAGLU | c.1533C>G (p.Gly511=) c.871C>G (n.871C>G) c.572C>G c.702C>G (p.Gly234=) c.534C>G (p.Gly178=) c.1590C>G (p.Gly530=) | |
17 | g.42543539C>T | CA8577046 | NAGLU | c.1533C>T (p.Gly511=) c.871C>T (n.871C>T) c.572C>T c.702C>T (p.Gly234=) c.534C>T (p.Gly178=) c.1590C>T (p.Gly530=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42543540C>A | CA399604122 | NAGLU | c.1534C>A (p.His512Asn) c.872C>A (n.872C>A) c.573C>A c.703C>A (p.His235Asn) c.535C>A (p.His179Asn) c.1591C>A (p.His531Asn) | |
17 | g.42543540C>G | CA399604120 | NAGLU | c.1534C>G (p.His512Asp) c.872C>G (n.872C>G) c.573C>G c.703C>G (p.His235Asp) c.535C>G (p.His179Asp) c.1591C>G (p.His531Asp) | |
17 | g.42543540C>T | CA399604121 | NAGLU | c.1534C>T (p.His512Tyr) c.872C>T (n.872C>T) c.573C>T c.703C>T (p.His235Tyr) c.535C>T (p.His179Tyr) c.1591C>T (p.His531Tyr) | |
17 | g.42543541A>C | CA399604123 | NAGLU | c.1535A>C (p.His512Pro) c.873A>C (n.873A>C) c.574A>C c.704A>C (p.His235Pro) c.536A>C (p.His179Pro) c.1592A>C (p.His531Pro) | |
17 | g.42543541A>G | CA399604124 | NAGLU | c.1535A>G (p.His512Arg) c.873A>G (n.873A>G) c.574A>G c.704A>G (p.His235Arg) c.536A>G (p.His179Arg) c.1592A>G (p.His531Arg) | |
17 | g.42543541A>T | CA399604125 | NAGLU | c.1535A>T (p.His512Leu) c.873A>T (n.873A>T) c.574A>T c.704A>T (p.His235Leu) c.536A>T (p.His179Leu) c.1592A>T (p.His531Leu) | |
17 | g.42543542del | CA2637971318 | NAGLU | c.1536del (p.His512GlnfsTer14) c.874del (n.874del) c.575del c.705del (p.His235GlnfsTer14) c.537del (p.His179GlnfsTer14) c.1593del (p.His531GlnfsTer14) | gnomAD v4 |
17 | g.42543542C>A | CA399604126 | NAGLU | c.1536C>A (p.His512Gln) c.874C>A (n.874C>A) c.575C>A c.705C>A (p.His235Gln) c.537C>A (p.His179Gln) c.1593C>A (p.His531Gln) | |
17 | g.42543542C= | CA2260530338 | NAGLU | c.1536C= (p.His512=) c.874C= (n.874C=) c.575C= c.705C= (p.His235=) c.537C= (p.His179=) c.1593C= (p.His531=) | |
17 | g.42543542C>G | CA399604127 | NAGLU | c.1536C>G (p.His512Gln) c.874C>G (n.874C>G) c.575C>G c.705C>G (p.His235Gln) c.537C>G (p.His179Gln) c.1593C>G (p.His531Gln) | |
17 | g.42543542C>T | CA500217034 | NAGLU | c.1536C>T (p.His512=) c.874C>T (n.874C>T) c.575C>T c.705C>T (p.His235=) c.537C>T (p.His179=) c.1593C>T (p.His531=) | dbSNP |
17 | g.42543543A>C | CA399604128 | NAGLU | c.1537A>C (p.Asn513His) c.875A>C (n.875A>C) c.576A>C c.706A>C (p.Asn236His) c.538A>C (p.Asn180His) c.1594A>C (p.Asn532His) | |
17 | g.42543543A>G | CA399604129 | NAGLU | c.1537A>G (p.Asn513Asp) c.875A>G (n.875A>G) c.576A>G c.706A>G (p.Asn236Asp) c.538A>G (p.Asn180Asp) c.1594A>G (p.Asn532Asp) | gnomAD v4 |
17 | g.42543543A>T | CA399604130 | NAGLU | c.1537A>T (p.Asn513Tyr) c.875A>T (n.875A>T) c.576A>T c.706A>T (p.Asn236Tyr) c.538A>T (p.Asn180Tyr) c.1594A>T (p.Asn532Tyr) | |
17 | g.42543544A= | CA2260530339 | NAGLU | c.1538A= (p.Asn513=) c.876A= (n.876A=) c.577A= c.707A= (p.Asn236=) c.539A= (p.Asn180=) c.1595A= (p.Asn532=) | |
17 | g.42543544A>C | CA399604131 | NAGLU | c.1538A>C (p.Asn513Thr) c.876A>C (n.876A>C) c.577A>C c.707A>C (p.Asn236Thr) c.539A>C (p.Asn180Thr) c.1595A>C (p.Asn532Thr) | |
17 | g.42543544A>G | CA8577047 | NAGLU | c.1538A>G (p.Asn513Ser) c.876A>G (n.876A>G) c.577A>G c.707A>G (p.Asn236Ser) c.539A>G (p.Asn180Ser) c.1595A>G (p.Asn532Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543544A>T | CA399604132 | NAGLU | c.1538A>T (p.Asn513Ile) c.876A>T (n.876A>T) c.577A>T c.707A>T (p.Asn236Ile) c.539A>T (p.Asn180Ile) c.1595A>T (p.Asn532Ile) | gnomAD v4 |