Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
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.42543480del | CA2843206021 | NAGLU | c.1474del (p.Ala492GlnfsTer?) c.812del (n.812del) c.513del c.643del (p.Ala215GlnfsTer?) c.475del (p.Ala159GlnfsTer?) c.1531del (p.Ala511GlnfsTer?) | |
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 |