Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.42543366del | CA2838857984 | NAGLU | c.1360del (p.Val454SerfsTer22) c.698del (n.698del) c.399del c.529del (p.Val177SerfsTer22) c.361del (p.Val121SerfsTer22) c.1417del (p.Val473SerfsTer22) | |
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.42543391del | CA2843206019 | NAGLU | c.1385del (p.Gly462AlafsTer14) c.723del (n.723del) c.424del c.554del (p.Gly185AlafsTer14) c.386del (p.Gly129AlafsTer14) c.1442del (p.Gly481AlafsTer14) | |
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.42543406del | CA2843206020 | NAGLU | c.1400del (p.Pro467GlnfsTer9) c.738del (n.738del) c.439del c.569del (p.Pro190GlnfsTer9) c.401del (p.Pro134GlnfsTer9) c.1457del (p.Pro486GlnfsTer9) | |
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 |
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=) |