| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42543489A>C | CA500217000 | NAGLU | c.1483A>C (p.Arg495=) c.821A>C (n.821A>C) c.522A>C c.652A>C (p.Arg218=) c.484A>C (p.Arg162=) c.1540A>C (p.Arg514=) | |
| 17 | g.42543489A>G | CA399603956 | NAGLU | c.1483A>G (p.Arg495Gly) c.821A>G (n.821A>G) c.522A>G c.652A>G (p.Arg218Gly) c.484A>G (p.Arg162Gly) c.1540A>G (p.Arg514Gly) | |
| 17 | g.42543489A>T | CA399603958 | NAGLU | c.1483A>T (p.Arg495Trp) c.821A>T (n.821A>T) c.522A>T c.652A>T (p.Arg218Trp) c.484A>T (p.Arg162Trp) c.1540A>T (p.Arg514Trp) | |
| 17 | g.42543490G>A | CA399603960 | NAGLU | c.1484G>A (p.Arg495Lys) c.822G>A (n.822G>A) c.523G>A c.653G>A (p.Arg218Lys) c.485G>A (p.Arg162Lys) c.1541G>A (p.Arg514Lys) | ClinVar gnomAD v4 |
| 17 | g.42543490G>C | CA399603962 | NAGLU | c.1484G>C (p.Arg495Thr) c.822G>C (n.822G>C) c.523G>C c.653G>C (p.Arg218Thr) c.485G>C (p.Arg162Thr) c.1541G>C (p.Arg514Thr) | dbSNP |
| 17 | g.42543490G= | CA2260530304 | NAGLU | c.1484G= (p.Arg495=) c.822G= (n.822G=) c.523G= c.653G= (p.Arg218=) c.485G= (p.Arg162=) c.1541G= (p.Arg514=) | |
| 17 | g.42543490G>T | CA399603963 | NAGLU | c.1484G>T (p.Arg495Met) c.822G>T (n.822G>T) c.523G>T c.653G>T (p.Arg218Met) c.485G>T (p.Arg162Met) c.1541G>T (p.Arg514Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543491G>A | CA500217001 | NAGLU | c.1485G>A (p.Arg495=) c.823G>A (n.823G>A) c.524G>A c.654G>A (p.Arg218=) c.486G>A (p.Arg162=) c.1542G>A (p.Arg514=) | |
| 17 | g.42543491G>C | CA399603966 | NAGLU | c.1485G>C (p.Arg495Ser) c.823G>C (n.823G>C) c.524G>C c.654G>C (p.Arg218Ser) c.486G>C (p.Arg162Ser) c.1542G>C (p.Arg514Ser) | |
| 17 | g.42543491G>T | CA399603968 | NAGLU | c.1485G>T (p.Arg495Ser) c.823G>T (n.823G>T) c.524G>T c.654G>T (p.Arg218Ser) c.486G>T (p.Arg162Ser) c.1542G>T (p.Arg514Ser) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42543492C>A | CA399603970 | NAGLU | c.1486C>A (p.Leu496Ile) c.824C>A (n.824C>A) c.525C>A c.655C>A (p.Leu219Ile) c.487C>A (p.Leu163Ile) c.1543C>A (p.Leu515Ile) | gnomAD v4 |
| 17 | g.42543492C= | CA2260530305 | NAGLU | c.1486C= (p.Leu496=) c.824C= (n.824C=) c.525C= c.655C= (p.Leu219=) c.487C= (p.Leu163=) c.1543C= (p.Leu515=) | |
| 17 | g.42543492C>G | CA399603971 | NAGLU | c.1486C>G (p.Leu496Val) c.824C>G (n.824C>G) c.525C>G c.655C>G (p.Leu219Val) c.487C>G (p.Leu163Val) c.1543C>G (p.Leu515Val) | |
| 17 | g.42543492C>T | CA500217002 | NAGLU | c.1486C>T (p.Leu496=) c.824C>T (n.824C>T) c.525C>T c.655C>T (p.Leu219=) c.487C>T (p.Leu163=) c.1543C>T (p.Leu515=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543493del | CA2695225864 | NAGLU | c.1487del (p.Leu496HisfsTer30) c.825del (n.825del) c.526del c.656del (p.Leu219HisfsTer30) c.488del (p.Leu163HisfsTer30) c.1544del (p.Leu515HisfsTer30) | |
| 17 | g.42543493T>A | CA399603974 | NAGLU | c.1487T>A (p.Leu496Gln) c.825T>A (n.825T>A) c.526T>A c.656T>A (p.Leu219Gln) c.488T>A (p.Leu163Gln) c.1544T>A (p.Leu515Gln) | |
| 17 | g.42543493T>C | CA8577035 | NAGLU | c.1487T>C (p.Leu496Pro) c.825T>C (n.825T>C) c.526T>C c.656T>C (p.Leu219Pro) c.488T>C (p.Leu163Pro) c.1544T>C (p.Leu515Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543493T>G | CA399603975 | NAGLU | c.1487T>G (p.Leu496Arg) c.825T>G (n.825T>G) c.526T>G c.656T>G (p.Leu219Arg) c.488T>G (p.Leu163Arg) c.1544T>G (p.Leu515Arg) | |
| 17 | g.42543493T= | CA2260530306 | NAGLU | c.1487T= (p.Leu496=) c.825T= (n.825T=) c.526T= c.656T= (p.Leu219=) c.488T= (p.Leu163=) c.1544T= (p.Leu515=) | |
| 17 | g.42543494A= | CA2260530308 | NAGLU | c.1488A= (p.Leu496=) c.826A= (n.826A=) c.527A= c.657A= (p.Leu219=) c.489A= (p.Leu163=) c.1545A= (p.Leu515=) | |
| 17 | g.42543494A>C | CA500217004 | NAGLU | c.1488A>C (p.Leu496=) c.826A>C (n.826A>C) c.527A>C c.657A>C (p.Leu219=) c.489A>C (p.Leu163=) c.1545A>C (p.Leu515=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543494A>G | CA8577036 | NAGLU | c.1488A>G (p.Leu496=) c.826A>G (n.826A>G) c.527A>G c.657A>G (p.Leu219=) c.489A>G (p.Leu163=) c.1545A>G (p.Leu515=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543494A>T | CA500217003 | NAGLU | c.1488A>T (p.Leu496=) c.826A>T (n.826A>T) c.527A>T c.657A>T (p.Leu219=) c.489A>T (p.Leu163=) c.1545A>T (p.Leu515=) | |
| 17 | g.42543504_42543523dup | CA2260530307 | NAGLU | c.1498_1517dup (p.Glu507ValfsTer26) c.836_855dup (n.836_855dup) c.537_556dup c.667_686dup (p.Glu230ValfsTer26) c.499_518dup (p.Glu174ValfsTer26) c.1555_1574dup (p.Glu526ValfsTer26) | dbSNP |
| 17 | g.42543504_42543523del | CA2580094275 | NAGLU | c.1498_1517del (p.Ser500GlyfsTer9) c.836_855del (n.836_855del) c.537_556del c.667_686del (p.Ser223GlyfsTer9) c.499_518del (p.Ser167GlyfsTer9) c.1555_1574del (p.Ser519GlyfsTer9) | ClinVar |
| 17 | g.42543495C>A | CA399603979 | NAGLU | c.1489C>A (p.Leu497Met) c.827C>A (n.827C>A) c.528C>A c.658C>A (p.Leu220Met) c.490C>A (p.Leu164Met) c.1546C>A (p.Leu516Met) | gnomAD v4 |
| 17 | g.42543495C= | CA2260530309 | NAGLU | c.1489C= (p.Leu497=) c.827C= (n.827C=) c.528C= c.658C= (p.Leu220=) c.490C= (p.Leu164=) c.1546C= (p.Leu516=) | |
| 17 | g.42543495C>G | CA399603981 | NAGLU | c.1489C>G (p.Leu497Val) c.827C>G (n.827C>G) c.528C>G c.658C>G (p.Leu220Val) c.490C>G (p.Leu164Val) c.1546C>G (p.Leu516Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543495C>T | CA500217005 | NAGLU | c.1489C>T (p.Leu497=) c.827C>T (n.827C>T) c.528C>T c.658C>T (p.Leu220=) c.490C>T (p.Leu164=) c.1546C>T (p.Leu516=) | ClinVar dbSNP |
| 17 | g.42543496T>A | CA399603983 | NAGLU | c.1490T>A (p.Leu497Gln) c.828T>A (n.828T>A) c.529T>A c.659T>A (p.Leu220Gln) c.491T>A (p.Leu164Gln) c.1547T>A (p.Leu516Gln) | COSMIC |
| 17 | g.42543496T>C | CA399603985 | NAGLU | c.1490T>C (p.Leu497Pro) c.828T>C (n.828T>C) c.529T>C c.659T>C (p.Leu220Pro) c.491T>C (p.Leu164Pro) c.1547T>C (p.Leu516Pro) | ClinVar dbSNP |
| 17 | g.42543496T>G | CA399603987 | NAGLU | c.1490T>G (p.Leu497Arg) c.828T>G (n.828T>G) c.529T>G c.659T>G (p.Leu220Arg) c.491T>G (p.Leu164Arg) c.1547T>G (p.Leu516Arg) | |
| 17 | g.42543496T= | CA2260530310 | NAGLU | c.1490T= (p.Leu497=) c.828T= (n.828T=) c.529T= c.659T= (p.Leu220=) c.491T= (p.Leu164=) c.1547T= (p.Leu516=) | |
| 17 | g.42543497G>A | CA500217007 | NAGLU | c.1491G>A (p.Leu497=) c.829G>A (n.829G>A) c.530G>A c.660G>A (p.Leu220=) c.492G>A (p.Leu164=) c.1548G>A (p.Leu516=) | |
| 17 | g.42543497G>C | CA500217006 | NAGLU | c.1491G>C (p.Leu497=) c.829G>C (n.829G>C) c.530G>C c.660G>C (p.Leu220=) c.492G>C (p.Leu164=) c.1548G>C (p.Leu516=) | ClinVar |
| 17 | g.42543497G>T | CA500217008 | NAGLU | c.1491G>T (p.Leu497=) c.829G>T (n.829G>T) c.530G>T c.660G>T (p.Leu220=) c.492G>T (p.Leu164=) c.1548G>T (p.Leu516=) | |
| 17 | g.42543498C>A | CA399603989 | NAGLU | c.1492C>A (p.Leu498Ile) c.830C>A (n.830C>A) c.531C>A c.661C>A (p.Leu221Ile) c.493C>A (p.Leu165Ile) c.1549C>A (p.Leu517Ile) | gnomAD v4 |
| 17 | g.42543498C>G | CA399603990 | NAGLU | c.1492C>G (p.Leu498Val) c.830C>G (n.830C>G) c.531C>G c.661C>G (p.Leu221Val) c.493C>G (p.Leu165Val) c.1549C>G (p.Leu517Val) | |
| 17 | g.42543498C>T | CA399603992 | NAGLU | c.1492C>T (p.Leu498Phe) c.830C>T (n.830C>T) c.531C>T c.661C>T (p.Leu221Phe) c.493C>T (p.Leu165Phe) c.1549C>T (p.Leu517Phe) | gnomAD v4 |
| 17 | g.42543499T>A | CA399603995 | NAGLU | c.1493T>A (p.Leu498His) c.831T>A (n.831T>A) c.532T>A c.662T>A (p.Leu221His) c.494T>A (p.Leu165His) c.1550T>A (p.Leu517His) | |
| 17 | g.42543499T>C | CA399603996 | NAGLU | c.1493T>C (p.Leu498Pro) c.831T>C (n.831T>C) c.532T>C c.662T>C (p.Leu221Pro) c.494T>C (p.Leu165Pro) c.1550T>C (p.Leu517Pro) | ClinVar |
| 17 | g.42543499T>G | CA399603998 | NAGLU | c.1493T>G (p.Leu498Arg) c.831T>G (n.831T>G) c.532T>G c.662T>G (p.Leu221Arg) c.494T>G (p.Leu165Arg) c.1550T>G (p.Leu517Arg) | |
| 17 | g.42543500C>A | CA500217009 | NAGLU | c.1494C>A (p.Leu498=) c.832C>A (n.832C>A) c.533C>A c.663C>A (p.Leu221=) c.495C>A (p.Leu165=) c.1551C>A (p.Leu517=) | gnomAD v4 |
| 17 | g.42543500C>G | CA500217011 | NAGLU | c.1494C>G (p.Leu498=) c.832C>G (n.832C>G) c.533C>G c.663C>G (p.Leu221=) c.495C>G (p.Leu165=) c.1551C>G (p.Leu517=) | |
| 17 | g.42543500C>T | CA500217010 | NAGLU | c.1494C>T (p.Leu498=) c.832C>T (n.832C>T) c.533C>T c.663C>T (p.Leu221=) c.495C>T (p.Leu165=) c.1551C>T (p.Leu517=) | |
| 17 | g.42543501C>A | CA500217012 | NAGLU | c.1495C>A (p.Arg499=) c.833C>A (n.833C>A) c.534C>A c.664C>A (p.Arg222=) c.496C>A (p.Arg166=) c.1552C>A (p.Arg518=) | gnomAD v4 |
| 17 | g.42543501C= | CA2260530311 | NAGLU | c.1495C= (p.Arg499=) c.833C= (n.833C=) c.534C= c.664C= (p.Arg222=) c.496C= (p.Arg166=) c.1552C= (p.Arg518=) | |
| 17 | g.42543501C>G | CA399604000 | NAGLU | c.1495C>G (p.Arg499Gly) c.833C>G (n.833C>G) c.534C>G c.664C>G (p.Arg222Gly) c.496C>G (p.Arg166Gly) c.1552C>G (p.Arg518Gly) | |
| 17 | g.42543501C>T | CA8577037 | NAGLU | c.1495C>T (p.Arg499Trp) c.833C>T (n.833C>T) c.534C>T c.664C>T (p.Arg222Trp) c.496C>T (p.Arg166Trp) c.1552C>T (p.Arg518Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543502G>A | CA8577038 | NAGLU | c.1496G>A (p.Arg499Gln) c.834G>A (n.834G>A) c.535G>A c.665G>A (p.Arg222Gln) c.497G>A (p.Arg166Gln) c.1553G>A (p.Arg518Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543502G>C | CA399604004 | NAGLU | c.1496G>C (p.Arg499Pro) c.834G>C (n.834G>C) c.535G>C c.665G>C (p.Arg222Pro) c.497G>C (p.Arg166Pro) c.1553G>C (p.Arg518Pro) | gnomAD v4 |
| 17 | g.42543502G= | CA2260530312 | NAGLU | c.1496G= (p.Arg499=) c.834G= (n.834G=) c.535G= c.665G= (p.Arg222=) c.497G= (p.Arg166=) c.1553G= (p.Arg518=) | |
| 17 | g.42543502G>T | CA399604005 | NAGLU | c.1496G>T (p.Arg499Leu) c.834G>T (n.834G>T) c.535G>T c.665G>T (p.Arg222Leu) c.497G>T (p.Arg166Leu) c.1553G>T (p.Arg518Leu) | gnomAD v4 |
| 17 | g.42543503G>A | CA500217015 | NAGLU | c.1497G>A (p.Arg499=) c.835G>A (n.835G>A) c.536G>A c.666G>A (p.Arg222=) c.498G>A (p.Arg166=) c.1554G>A (p.Arg518=) | ClinVar |
| 17 | g.42543503G>C | CA500217013 | NAGLU | c.1497G>C (p.Arg499=) c.835G>C (n.835G>C) c.536G>C c.666G>C (p.Arg222=) c.498G>C (p.Arg166=) c.1554G>C (p.Arg518=) | |
| 17 | g.42543503G= | CA2260530313 | NAGLU | c.1497G= (p.Arg499=) c.835G= (n.835G=) c.536G= c.666G= (p.Arg222=) c.498G= (p.Arg166=) c.1554G= (p.Arg518=) | |
| 17 | g.42543503G>T | CA500217014 | NAGLU | c.1497G>T (p.Arg499=) c.835G>T (n.835G>T) c.536G>T c.666G>T (p.Arg222=) c.498G>T (p.Arg166=) c.1554G>T (p.Arg518=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543504A>C | CA399604008 | NAGLU | c.1498A>C (p.Ser500Arg) c.836A>C (n.836A>C) c.537A>C c.667A>C (p.Ser223Arg) c.499A>C (p.Ser167Arg) c.1555A>C (p.Ser519Arg) | |
| 17 | g.42543504A>G | CA399604010 | NAGLU | c.1498A>G (p.Ser500Gly) c.836A>G (n.836A>G) c.537A>G c.667A>G (p.Ser223Gly) c.499A>G (p.Ser167Gly) c.1555A>G (p.Ser519Gly) | gnomAD v4 |
| 17 | g.42543504A>T | CA399604011 | NAGLU | c.1498A>T (p.Ser500Cys) c.836A>T (n.836A>T) c.537A>T c.667A>T (p.Ser223Cys) c.499A>T (p.Ser167Cys) c.1555A>T (p.Ser519Cys) | gnomAD v4 |
| 17 | g.42543505G>A | CA399604013 | NAGLU | c.1499G>A (p.Ser500Asn) c.837G>A (n.837G>A) c.538G>A c.668G>A (p.Ser223Asn) c.500G>A (p.Ser167Asn) c.1556G>A (p.Ser519Asn) | |
| 17 | g.42543505G>C | CA399604014 | NAGLU | c.1499G>C (p.Ser500Thr) c.837G>C (n.837G>C) c.538G>C c.668G>C (p.Ser223Thr) c.500G>C (p.Ser167Thr) c.1556G>C (p.Ser519Thr) | |
| 17 | g.42543505G>T | CA399604016 | NAGLU | c.1499G>T (p.Ser500Ile) c.837G>T (n.837G>T) c.538G>T c.668G>T (p.Ser223Ile) c.500G>T (p.Ser167Ile) c.1556G>T (p.Ser519Ile) | gnomAD v4 |
| 17 | g.42543506T>A | CA399604017 | NAGLU | c.1500T>A (p.Ser500Arg) c.838T>A (n.838T>A) c.539T>A c.669T>A (p.Ser223Arg) c.501T>A (p.Ser167Arg) c.1557T>A (p.Ser519Arg) | |
| 17 | g.42543506T>C | CA500217016 | NAGLU | c.1500T>C (p.Ser500=) c.838T>C (n.838T>C) c.539T>C c.669T>C (p.Ser223=) c.501T>C (p.Ser167=) c.1557T>C (p.Ser519=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543506T>G | CA399604019 | NAGLU | c.1500T>G (p.Ser500Arg) c.838T>G (n.838T>G) c.539T>G c.669T>G (p.Ser223Arg) c.501T>G (p.Ser167Arg) c.1557T>G (p.Ser519Arg) | dbSNP |
| 17 | g.42543506T= | CA2260530314 | NAGLU | c.1500T= (p.Ser500=) c.838T= (n.838T=) c.539T= c.669T= (p.Ser223=) c.501T= (p.Ser167=) c.1557T= (p.Ser519=) | |
| 17 | g.42543507G>A | CA399604023 | NAGLU | c.1501G>A (p.Val501Met) c.839G>A (n.839G>A) c.540G>A c.670G>A (p.Val224Met) c.502G>A (p.Val168Met) c.1558G>A (p.Val520Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543507G>C | CA399604024 | NAGLU | c.1501G>C (p.Val501Leu) c.839G>C (n.839G>C) c.540G>C c.670G>C (p.Val224Leu) c.502G>C (p.Val168Leu) c.1558G>C (p.Val520Leu) | |
| 17 | g.42543507G= | CA2260530315 | NAGLU | c.1501G= (p.Val501=) c.839G= (n.839G=) c.540G= c.670G= (p.Val224=) c.502G= (p.Val168=) c.1558G= (p.Val520=) | |
| 17 | g.42543507G>T | CA399604021 | NAGLU | c.1501G>T (p.Val501Leu) c.839G>T (n.839G>T) c.540G>T c.670G>T (p.Val224Leu) c.502G>T (p.Val168Leu) c.1558G>T (p.Val520Leu) | gnomAD v4 |
| 17 | g.42543508T>A | CA399604027 | NAGLU | c.1502T>A (p.Val501Glu) c.840T>A (n.840T>A) c.541T>A c.671T>A (p.Val224Glu) c.503T>A (p.Val168Glu) c.1559T>A (p.Val520Glu) | |
| 17 | g.42543508T>C | CA399604029 | NAGLU | c.1502T>C (p.Val501Ala) c.840T>C (n.840T>C) c.541T>C c.671T>C (p.Val224Ala) c.503T>C (p.Val168Ala) c.1559T>C (p.Val520Ala) | gnomAD v4 |
| 17 | g.42543508T>G | CA399604030 | NAGLU | c.1502T>G (p.Val501Gly) c.840T>G (n.840T>G) c.541T>G c.671T>G (p.Val224Gly) c.503T>G (p.Val168Gly) c.1559T>G (p.Val520Gly) | |
| 17 | g.42543509G>A | CA8577039 | NAGLU | c.1503G>A (p.Val501=) c.841G>A (n.841G>A) c.542G>A c.672G>A (p.Val224=) c.504G>A (p.Val168=) c.1560G>A (p.Val520=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543509G>C | CA500217017 | NAGLU | c.1503G>C (p.Val501=) c.841G>C (n.841G>C) c.542G>C c.672G>C (p.Val224=) c.504G>C (p.Val168=) c.1560G>C (p.Val520=) | |
| 17 | g.42543509G= | CA2260530316 | NAGLU | c.1503G= (p.Val501=) c.841G= (n.841G=) c.542G= c.672G= (p.Val224=) c.504G= (p.Val168=) c.1560G= (p.Val520=) | |
| 17 | g.42543509G>T | CA500217018 | NAGLU | c.1503G>T (p.Val501=) c.841G>T (n.841G>T) c.542G>T c.672G>T (p.Val224=) c.504G>T (p.Val168=) c.1560G>T (p.Val520=) | gnomAD v4 |
| 17 | g.42543510T>A | CA399604033 | NAGLU | c.1504T>A (p.Tyr502Asn) c.842T>A (n.842T>A) c.543T>A c.673T>A (p.Tyr225Asn) c.505T>A (p.Tyr169Asn) c.1561T>A (p.Tyr521Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543510T>C | CA399604035 | NAGLU | c.1504T>C (p.Tyr502His) c.842T>C (n.842T>C) c.543T>C c.673T>C (p.Tyr225His) c.505T>C (p.Tyr169His) c.1561T>C (p.Tyr521His) | gnomAD v4 |
| 17 | g.42543510T>G | CA399604037 | NAGLU | c.1504T>G (p.Tyr502Asp) c.842T>G (n.842T>G) c.543T>G c.673T>G (p.Tyr225Asp) c.505T>G (p.Tyr169Asp) c.1561T>G (p.Tyr521Asp) | |
| 17 | g.42543510T= | CA2260530317 | NAGLU | c.1504T= (p.Tyr502=) c.842T= (n.842T=) c.543T= c.673T= (p.Tyr225=) c.505T= (p.Tyr169=) c.1561T= (p.Tyr521=) | |
| 17 | g.42543511A= | CA2260530318 | NAGLU | c.1505A= (p.Tyr502=) c.843A= (n.843A=) c.544A= c.674A= (p.Tyr225=) c.506A= (p.Tyr169=) c.1562A= (p.Tyr521=) | |
| 17 | g.42543511A>C | CA399604039 | NAGLU | c.1505A>C (p.Tyr502Ser) c.843A>C (n.843A>C) c.544A>C c.674A>C (p.Tyr225Ser) c.506A>C (p.Tyr169Ser) c.1562A>C (p.Tyr521Ser) | |
| 17 | g.42543511A>G | CA399604043 | NAGLU | c.1505A>G (p.Tyr502Cys) c.843A>G (n.843A>G) c.544A>G c.674A>G (p.Tyr225Cys) c.506A>G (p.Tyr169Cys) c.1562A>G (p.Tyr521Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42543511A>T | CA399604041 | NAGLU | c.1505A>T (p.Tyr502Phe) c.843A>T (n.843A>T) c.544A>T c.674A>T (p.Tyr225Phe) c.506A>T (p.Tyr169Phe) c.1562A>T (p.Tyr521Phe) | |
| 17 | g.42543512C>A | CA399604045 | NAGLU | c.1506C>A (p.Tyr502Ter) c.844C>A (n.844C>A) c.545C>A c.675C>A (p.Tyr225Ter) c.507C>A (p.Tyr169Ter) c.1563C>A (p.Tyr521Ter) | gnomAD v4 |
| 17 | g.42543512C= | CA2260530319 | NAGLU | c.1506C= (p.Tyr502=) c.844C= (n.844C=) c.545C= c.675C= (p.Tyr225=) c.507C= (p.Tyr169=) c.1563C= (p.Tyr521=) | |
| 17 | g.42543512C>G | CA399604047 | NAGLU | c.1506C>G (p.Tyr502Ter) c.844C>G (n.844C>G) c.545C>G c.675C>G (p.Tyr225Ter) c.507C>G (p.Tyr169Ter) c.1563C>G (p.Tyr521Ter) | |
| 17 | g.42543512C>T | CA500217019 | NAGLU | c.1506C>T (p.Tyr502=) c.844C>T (n.844C>T) c.545C>T c.675C>T (p.Tyr225=) c.507C>T (p.Tyr169=) c.1563C>T (p.Tyr521=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543513A>C | CA399604049 | NAGLU | c.1507A>C (p.Asn503His) c.845A>C (n.845A>C) c.546A>C c.676A>C (p.Asn226His) c.508A>C (p.Asn170His) c.1564A>C (p.Asn522His) | |
| 17 | g.42543513A>G | CA399604051 | NAGLU | c.1507A>G (p.Asn503Asp) c.845A>G (n.845A>G) c.546A>G c.676A>G (p.Asn226Asp) c.508A>G (p.Asn170Asp) c.1564A>G (p.Asn522Asp) | |
| 17 | g.42543513A>T | CA399604052 | NAGLU | c.1507A>T (p.Asn503Tyr) c.845A>T (n.845A>T) c.546A>T c.676A>T (p.Asn226Tyr) c.508A>T (p.Asn170Tyr) c.1564A>T (p.Asn522Tyr) | |
| 17 | g.42543514A= | CA2260530320 | NAGLU | c.1508A= (p.Asn503=) c.846A= (n.846A=) c.547A= c.677A= (p.Asn226=) c.509A= (p.Asn170=) c.1565A= (p.Asn522=) | |
| 17 | g.42543514A>C | CA399604054 | NAGLU | c.1508A>C (p.Asn503Thr) c.846A>C (n.846A>C) c.547A>C c.677A>C (p.Asn226Thr) c.509A>C (p.Asn170Thr) c.1565A>C (p.Asn522Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42543514A>G | CA8577040 | NAGLU | c.1508A>G (p.Asn503Ser) c.846A>G (n.846A>G) c.547A>G c.677A>G (p.Asn226Ser) c.509A>G (p.Asn170Ser) c.1565A>G (p.Asn522Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543514A>T | CA399604056 | NAGLU | c.1508A>T (p.Asn503Ile) c.846A>T (n.846A>T) c.547A>T c.677A>T (p.Asn226Ile) c.509A>T (p.Asn170Ile) c.1565A>T (p.Asn522Ile) | |
| 17 | g.42543515C>A | CA399604059 | NAGLU | c.1509C>A (p.Asn503Lys) c.847C>A (n.847C>A) c.548C>A c.678C>A (p.Asn226Lys) c.510C>A (p.Asn170Lys) c.1566C>A (p.Asn522Lys) | ClinVar dbSNP |
| 17 | g.42543515C= | CA2260530321 | NAGLU | c.1509C= (p.Asn503=) c.847C= (n.847C=) c.548C= c.678C= (p.Asn226=) c.510C= (p.Asn170=) c.1566C= (p.Asn522=) | |
| 17 | g.42543515C>G | CA399604061 | NAGLU | c.1509C>G (p.Asn503Lys) c.847C>G (n.847C>G) c.548C>G c.678C>G (p.Asn226Lys) c.510C>G (p.Asn170Lys) c.1566C>G (p.Asn522Lys) | |
| 17 | g.42543515C>T | CA8577041 | NAGLU | c.1509C>T (p.Asn503=) c.847C>T (n.847C>T) c.548C>T c.678C>T (p.Asn226=) c.510C>T (p.Asn170=) c.1566C>T (p.Asn522=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42543516T>A | CA399604065 | NAGLU | c.1510T>A (p.Cys504Ser) c.848T>A (n.848T>A) c.549T>A c.679T>A (p.Cys227Ser) c.511T>A (p.Cys171Ser) c.1567T>A (p.Cys523Ser) | |
| 17 | g.42543516T>C | CA399604066 | NAGLU | c.1510T>C (p.Cys504Arg) c.848T>C (n.848T>C) c.549T>C c.679T>C (p.Cys227Arg) c.511T>C (p.Cys171Arg) c.1567T>C (p.Cys523Arg) | |
| 17 | g.42543516T>G | CA399604067 | NAGLU | c.1510T>G (p.Cys504Gly) c.848T>G (n.848T>G) c.549T>G c.679T>G (p.Cys227Gly) c.511T>G (p.Cys171Gly) c.1567T>G (p.Cys523Gly) | |
| 17 | g.42543517G>A | CA399604069 | NAGLU | c.1511G>A (p.Cys504Tyr) c.849G>A (n.849G>A) c.550G>A c.680G>A (p.Cys227Tyr) c.512G>A (p.Cys171Tyr) c.1568G>A (p.Cys523Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42543517G>C | CA399604070 | NAGLU | c.1511G>C (p.Cys504Ser) c.849G>C (n.849G>C) c.550G>C c.680G>C (p.Cys227Ser) c.512G>C (p.Cys171Ser) c.1568G>C (p.Cys523Ser) | |
| 17 | g.42543517G= | CA2260530322 | NAGLU | c.1511G= (p.Cys504=) c.849G= (n.849G=) c.550G= c.680G= (p.Cys227=) c.512G= (p.Cys171=) c.1568G= (p.Cys523=) | |
| 17 | g.42543517G>T | CA399604072 | NAGLU | c.1511G>T (p.Cys504Phe) c.849G>T (n.849G>T) c.550G>T c.680G>T (p.Cys227Phe) c.512G>T (p.Cys171Phe) c.1568G>T (p.Cys523Phe) | gnomAD v4 |
| 17 | g.42543518C>A | CA399604074 | NAGLU | c.1512C>A (p.Cys504Ter) c.850C>A (n.850C>A) c.551C>A c.681C>A (p.Cys227Ter) c.513C>A (p.Cys171Ter) c.1569C>A (p.Cys523Ter) | |
| 17 | g.42543518C= | CA2260530323 | NAGLU | c.1512C= (p.Cys504=) c.850C= (n.850C=) c.551C= c.681C= (p.Cys227=) c.513C= (p.Cys171=) c.1569C= (p.Cys523=) | |
| 17 | g.42543518C>G | CA399604076 | NAGLU | c.1512C>G (p.Cys504Trp) c.850C>G (n.850C>G) c.551C>G c.681C>G (p.Cys227Trp) c.513C>G (p.Cys171Trp) c.1569C>G (p.Cys523Trp) | |
| 17 | g.42543518C>T | CA8577042 | NAGLU | c.1512C>T (p.Cys504=) c.850C>T (n.850C>T) c.551C>T c.681C>T (p.Cys227=) c.513C>T (p.Cys171=) c.1569C>T (p.Cys523=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42543519T>A | CA399604077 | NAGLU | c.1513T>A (p.Ser505Thr) c.851T>A (n.851T>A) c.552T>A c.682T>A (p.Ser228Thr) c.514T>A (p.Ser172Thr) c.1570T>A (p.Ser524Thr) | |
| 17 | g.42543519T>C | CA399604079 | NAGLU | c.1513T>C (p.Ser505Pro) c.851T>C (n.851T>C) c.552T>C c.682T>C (p.Ser228Pro) c.514T>C (p.Ser172Pro) c.1570T>C (p.Ser524Pro) | |
| 17 | g.42543519T>G | CA399604078 | NAGLU | c.1513T>G (p.Ser505Ala) c.851T>G (n.851T>G) c.552T>G c.682T>G (p.Ser228Ala) c.514T>G (p.Ser172Ala) c.1570T>G (p.Ser524Ala) | gnomAD v4 |
| 17 | g.42543520C>A | CA399604080 | NAGLU | c.1514C>A (p.Ser505Tyr) c.852C>A (n.852C>A) c.553C>A c.683C>A (p.Ser228Tyr) c.515C>A (p.Ser172Tyr) c.1571C>A (p.Ser524Tyr) | dbSNP |
| 17 | g.42543520C= | CA2260530324 | NAGLU | c.1514C= (p.Ser505=) c.852C= (n.852C=) c.553C= c.683C= (p.Ser228=) c.515C= (p.Ser172=) c.1571C= (p.Ser524=) | |
| 17 | g.42543520C>G | CA399604081 | NAGLU | c.1514C>G (p.Ser505Cys) c.852C>G (n.852C>G) c.553C>G c.683C>G (p.Ser228Cys) c.515C>G (p.Ser172Cys) c.1571C>G (p.Ser524Cys) | |
| 17 | g.42543520C>T | CA399604082 | NAGLU | c.1514C>T (p.Ser505Phe) c.852C>T (n.852C>T) c.553C>T c.683C>T (p.Ser228Phe) c.515C>T (p.Ser172Phe) c.1571C>T (p.Ser524Phe) | |
| 17 | g.42543521C>A | CA500217021 | NAGLU | c.1515C>A (p.Ser505=) c.853C>A (n.853C>A) c.554C>A c.684C>A (p.Ser228=) c.516C>A (p.Ser172=) c.1572C>A (p.Ser524=) | |
| 17 | g.42543521C= | CA2260530325 | NAGLU | c.1515C= (p.Ser505=) c.853C= (n.853C=) c.554C= c.684C= (p.Ser228=) c.516C= (p.Ser172=) c.1572C= (p.Ser524=) | |
| 17 | g.42543521C>G | CA500217020 | NAGLU | c.1515C>G (p.Ser505=) c.853C>G (n.853C>G) c.554C>G c.684C>G (p.Ser228=) c.516C>G (p.Ser172=) c.1572C>G (p.Ser524=) | |
| 17 | g.42543521C>T | CA8577043 | NAGLU | c.1515C>T (p.Ser505=) c.853C>T (n.853C>T) c.554C>T c.684C>T (p.Ser228=) c.516C>T (p.Ser172=) c.1572C>T (p.Ser524=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543522G>A | CA399604083 | NAGLU | c.1516G>A (p.Gly506Arg) c.854G>A (n.854G>A) c.555G>A c.685G>A (p.Gly229Arg) c.517G>A (p.Gly173Arg) c.1573G>A (p.Gly525Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543522G>C | CA399604084 | NAGLU | c.1516G>C (p.Gly506Arg) c.854G>C (n.854G>C) c.555G>C c.685G>C (p.Gly229Arg) c.517G>C (p.Gly173Arg) c.1573G>C (p.Gly525Arg) | |
| 17 | g.42543522G= | CA2260530326 | NAGLU | c.1516G= (p.Gly506=) c.854G= (n.854G=) c.555G= c.685G= (p.Gly229=) c.517G= (p.Gly173=) c.1573G= (p.Gly525=) | |
| 17 | g.42543522G>T | CA399604085 | NAGLU | c.1516G>T (p.Gly506Trp) c.854G>T (n.854G>T) c.555G>T c.685G>T (p.Gly229Trp) c.517G>T (p.Gly173Trp) c.1573G>T (p.Gly525Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543523G>A | CA8577044 | NAGLU | c.1517G>A (p.Gly506Glu) c.855G>A (n.855G>A) c.556G>A c.686G>A (p.Gly229Glu) c.518G>A (p.Gly173Glu) c.1574G>A (p.Gly525Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42543523G>C | CA399604086 | NAGLU | c.1517G>C (p.Gly506Ala) c.855G>C (n.855G>C) c.556G>C c.686G>C (p.Gly229Ala) c.518G>C (p.Gly173Ala) c.1574G>C (p.Gly525Ala) | |
| 17 | g.42543523G= | CA2260530327 | NAGLU | c.1517G= (p.Gly506=) c.855G= (n.855G=) c.556G= c.686G= (p.Gly229=) c.518G= (p.Gly173=) c.1574G= (p.Gly525=) | |
| 17 | g.42543523G>T | CA399604087 | NAGLU | c.1517G>T (p.Gly506Val) c.855G>T (n.855G>T) c.556G>T c.686G>T (p.Gly229Val) c.518G>T (p.Gly173Val) c.1574G>T (p.Gly525Val) | gnomAD v4 |
| 17 | g.42543524G>A | CA500217022 | NAGLU | c.1518G>A (p.Gly506=) c.856G>A (n.856G>A) c.557G>A c.687G>A (p.Gly229=) c.519G>A (p.Gly173=) c.1575G>A (p.Gly525=) | |
| 17 | g.42543524G>C | CA500217024 | NAGLU | c.1518G>C (p.Gly506=) c.856G>C (n.856G>C) c.557G>C c.687G>C (p.Gly229=) c.519G>C (p.Gly173=) c.1575G>C (p.Gly525=) | |
| 17 | g.42543524G>T | CA500217023 | NAGLU | c.1518G>T (p.Gly506=) c.856G>T (n.856G>T) c.557G>T c.687G>T (p.Gly229=) c.519G>T (p.Gly173=) c.1575G>T (p.Gly525=) | gnomAD v4 |
| 17 | g.42543525G>A | CA399604088 | NAGLU | c.1519G>A (p.Glu507Lys) c.857G>A (n.857G>A) c.558G>A c.688G>A (p.Glu230Lys) c.520G>A (p.Glu174Lys) c.1576G>A (p.Glu526Lys) | dbSNP |
| 17 | g.42543525G>C | CA399604089 | NAGLU | c.1519G>C (p.Glu507Gln) c.857G>C (n.857G>C) c.558G>C c.688G>C (p.Glu230Gln) c.520G>C (p.Glu174Gln) c.1576G>C (p.Glu526Gln) | |
| 17 | g.42543525G= | CA2260530328 | NAGLU | c.1519G= (p.Glu507=) c.857G= (n.857G=) c.558G= c.688G= (p.Glu230=) c.520G= (p.Glu174=) c.1576G= (p.Glu526=) | |
| 17 | g.42543525G>T | CA399604090 | NAGLU | c.1519G>T (p.Glu507Ter) c.857G>T (n.857G>T) c.558G>T c.688G>T (p.Glu230Ter) c.520G>T (p.Glu174Ter) c.1576G>T (p.Glu526Ter) | |
| 17 | g.42543526A= | CA2260530329 | NAGLU | c.1520A= (p.Glu507=) c.858A= (n.858A=) c.559A= c.689A= (p.Glu230=) c.521A= (p.Glu174=) c.1577A= (p.Glu526=) | |
| 17 | g.42543526A>C | CA290780720 | NAGLU | c.1520A>C (p.Glu507Ala) c.858A>C (n.858A>C) c.559A>C c.689A>C (p.Glu230Ala) c.521A>C (p.Glu174Ala) c.1577A>C (p.Glu526Ala) | dbSNP |
| 17 | g.42543526A>G | CA399604091 | NAGLU | c.1520A>G (p.Glu507Gly) c.858A>G (n.858A>G) c.559A>G c.689A>G (p.Glu230Gly) c.521A>G (p.Glu174Gly) c.1577A>G (p.Glu526Gly) | gnomAD v4 |
| 17 | g.42543526A>T | CA399604092 | NAGLU | c.1520A>T (p.Glu507Val) c.858A>T (n.858A>T) c.559A>T c.689A>T (p.Glu230Val) c.521A>T (p.Glu174Val) c.1577A>T (p.Glu526Val) | gnomAD v4 |
| 17 | g.42543527G>A | CA500217025 | NAGLU | c.1521G>A (p.Glu507=) c.859G>A (n.859G>A) c.560G>A c.690G>A (p.Glu230=) c.522G>A (p.Glu174=) c.1578G>A (p.Glu526=) | gnomAD v4 |
| 17 | g.42543527G>C | CA399604093 | NAGLU | c.1521G>C (p.Glu507Asp) c.859G>C (n.859G>C) c.560G>C c.690G>C (p.Glu230Asp) c.522G>C (p.Glu174Asp) c.1578G>C (p.Glu526Asp) | |
| 17 | g.42543527G>T | CA399604094 | NAGLU | c.1521G>T (p.Glu507Asp) c.859G>T (n.859G>T) c.560G>T c.690G>T (p.Glu230Asp) c.522G>T (p.Glu174Asp) c.1578G>T (p.Glu526Asp) | gnomAD v4 |
| 17 | g.42543528G>A | CA399604095 | NAGLU | c.1522G>A (p.Ala508Thr) c.860G>A (n.860G>A) c.561G>A c.691G>A (p.Ala231Thr) c.523G>A (p.Ala175Thr) c.1579G>A (p.Ala527Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543528G>C | CA399604096 | NAGLU | c.1522G>C (p.Ala508Pro) c.860G>C (n.860G>C) c.561G>C c.691G>C (p.Ala231Pro) c.523G>C (p.Ala175Pro) c.1579G>C (p.Ala527Pro) | |
| 17 | g.42543528G= | CA2260530330 | NAGLU | c.1522G= (p.Ala508=) c.860G= (n.860G=) c.561G= c.691G= (p.Ala231=) c.523G= (p.Ala175=) c.1579G= (p.Ala527=) | |
| 17 | g.42543528G>T | CA399604097 | NAGLU | c.1522G>T (p.Ala508Ser) c.860G>T (n.860G>T) c.561G>T c.691G>T (p.Ala231Ser) c.523G>T (p.Ala175Ser) c.1579G>T (p.Ala527Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543529C>A | CA399604098 | NAGLU | c.1523C>A (p.Ala508Asp) c.861C>A (n.861C>A) c.562C>A c.692C>A (p.Ala231Asp) c.524C>A (p.Ala175Asp) c.1580C>A (p.Ala527Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543529C= | CA2260530331 | NAGLU | c.1523C= (p.Ala508=) c.861C= (n.861C=) c.562C= c.692C= (p.Ala231=) c.524C= (p.Ala175=) c.1580C= (p.Ala527=) | |
| 17 | g.42543529C>G | CA399604099 | NAGLU | c.1523C>G (p.Ala508Gly) c.861C>G (n.861C>G) c.562C>G c.692C>G (p.Ala231Gly) c.524C>G (p.Ala175Gly) c.1580C>G (p.Ala527Gly) | |
| 17 | g.42543529C>T | CA399604100 | NAGLU | c.1523C>T (p.Ala508Val) c.861C>T (n.861C>T) c.562C>T c.692C>T (p.Ala231Val) c.524C>T (p.Ala175Val) c.1580C>T (p.Ala527Val) | |
| 17 | g.42543530C>A | CA500217028 | NAGLU | c.1524C>A (p.Ala508=) c.862C>A (n.862C>A) c.563C>A c.693C>A (p.Ala231=) c.525C>A (p.Ala175=) c.1581C>A (p.Ala527=) | |
| 17 | g.42543530C= | CA2260530332 | NAGLU | c.1524C= (p.Ala508=) c.862C= (n.862C=) c.563C= c.693C= (p.Ala231=) c.525C= (p.Ala175=) c.1581C= (p.Ala527=) | |
| 17 | g.42543530C>G | CA500217026 | NAGLU | c.1524C>G (p.Ala508=) c.862C>G (n.862C>G) c.563C>G c.693C>G (p.Ala231=) c.525C>G (p.Ala175=) c.1581C>G (p.Ala527=) | dbSNP gnomAD v2 |
| 17 | g.42543530C>T | CA500217027 | NAGLU | c.1524C>T (p.Ala508=) c.862C>T (n.862C>T) c.563C>T c.693C>T (p.Ala231=) c.525C>T (p.Ala175=) c.1581C>T (p.Ala527=) | ClinVar gnomAD v4 |
| 17 | g.42543531T>A | CA399604101 | NAGLU | c.1525T>A (p.Cys509Ser) c.863T>A (n.863T>A) c.564T>A c.694T>A (p.Cys232Ser) c.526T>A (p.Cys176Ser) c.1582T>A (p.Cys528Ser) | |
| 17 | g.42543531T>C | CA399604102 | NAGLU | c.1525T>C (p.Cys509Arg) c.863T>C (n.863T>C) c.564T>C c.694T>C (p.Cys232Arg) c.526T>C (p.Cys176Arg) c.1582T>C (p.Cys528Arg) | gnomAD v4 |
| 17 | g.42543531T>G | CA399604103 | NAGLU | c.1525T>G (p.Cys509Gly) c.863T>G (n.863T>G) c.564T>G c.694T>G (p.Cys232Gly) c.526T>G (p.Cys176Gly) c.1582T>G (p.Cys528Gly) | |
| 17 | g.42543532G>A | CA8577045 | NAGLU | c.1526G>A (p.Cys509Tyr) c.864G>A (n.864G>A) c.565G>A c.695G>A (p.Cys232Tyr) c.527G>A (p.Cys176Tyr) c.1583G>A (p.Cys528Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543532G>C | CA399604105 | NAGLU | c.1526G>C (p.Cys509Ser) c.864G>C (n.864G>C) c.565G>C c.695G>C (p.Cys232Ser) c.527G>C (p.Cys176Ser) c.1583G>C (p.Cys528Ser) | |
| 17 | g.42543532G= | CA2260530333 | NAGLU | c.1526G= (p.Cys509=) c.864G= (n.864G=) c.565G= c.695G= (p.Cys232=) c.527G= (p.Cys176=) c.1583G= (p.Cys528=) | |
| 17 | g.42543532G>T | CA399604104 | NAGLU | c.1526G>T (p.Cys509Phe) c.864G>T (n.864G>T) c.565G>T c.695G>T (p.Cys232Phe) c.527G>T (p.Cys176Phe) c.1583G>T (p.Cys528Phe) | gnomAD v4 |
| 17 | g.42543533C>A | CA399604106 | NAGLU | c.1527C>A (p.Cys509Ter) c.865C>A (n.865C>A) c.566C>A c.696C>A (p.Cys232Ter) c.528C>A (p.Cys176Ter) c.1584C>A (p.Cys528Ter) | |
| 17 | g.42543533C>G | CA399604107 | NAGLU | c.1527C>G (p.Cys509Trp) c.865C>G (n.865C>G) c.566C>G c.696C>G (p.Cys232Trp) c.528C>G (p.Cys176Trp) c.1584C>G (p.Cys528Trp) | gnomAD v4 |
| 17 | g.42543533C>T | CA500217029 | NAGLU | c.1527C>T (p.Cys509=) c.865C>T (n.865C>T) c.566C>T c.696C>T (p.Cys232=) c.528C>T (p.Cys176=) c.1584C>T (p.Cys528=) | |
| 17 | g.42543534A= | CA2260530334 | NAGLU | c.1528A= (p.Arg510=) c.866A= (n.866A=) c.567A= c.697A= (p.Arg233=) c.529A= (p.Arg177=) c.1585A= (p.Arg529=) | |
| 17 | g.42543534A>C | CA500217030 | NAGLU | c.1528A>C (p.Arg510=) c.866A>C (n.866A>C) c.567A>C c.697A>C (p.Arg233=) c.529A>C (p.Arg177=) c.1585A>C (p.Arg529=) | |
| 17 | g.42543534A>G | CA399604108 | NAGLU | c.1528A>G (p.Arg510Gly) c.866A>G (n.866A>G) c.567A>G c.697A>G (p.Arg233Gly) c.529A>G (p.Arg177Gly) c.1585A>G (p.Arg529Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543534A>T | CA399604109 | NAGLU | c.1528A>T (p.Arg510Trp) c.866A>T (n.866A>T) c.567A>T c.697A>T (p.Arg233Trp) c.529A>T (p.Arg177Trp) c.1585A>T (p.Arg529Trp) | |
| 17 | g.42543535G>A | CA399604110 | NAGLU | c.1529G>A (p.Arg510Lys) c.867G>A (n.867G>A) c.568G>A c.698G>A (p.Arg233Lys) c.530G>A (p.Arg177Lys) c.1586G>A (p.Arg529Lys) | |
| 17 | g.42543535G>C | CA399604111 | NAGLU | c.1529G>C (p.Arg510Thr) c.867G>C (n.867G>C) c.568G>C c.698G>C (p.Arg233Thr) c.530G>C (p.Arg177Thr) c.1586G>C (p.Arg529Thr) | |
| 17 | g.42543535G>T | CA399604112 | NAGLU | c.1529G>T (p.Arg510Met) c.867G>T (n.867G>T) c.568G>T c.698G>T (p.Arg233Met) c.530G>T (p.Arg177Met) c.1586G>T (p.Arg529Met) | gnomAD v4 |
| 17 | g.42543536G>A | CA500217031 | NAGLU | c.1530G>A (p.Arg510=) c.868G>A (n.868G>A) c.569G>A c.699G>A (p.Arg233=) c.531G>A (p.Arg177=) c.1587G>A (p.Arg529=) | |
| 17 | g.42543536G>C | CA399604113 | NAGLU | c.1530G>C (p.Arg510Ser) c.868G>C (n.868G>C) c.569G>C c.699G>C (p.Arg233Ser) c.531G>C (p.Arg177Ser) c.1587G>C (p.Arg529Ser) | |
| 17 | g.42543536G>T | CA399604114 | NAGLU | c.1530G>T (p.Arg510Ser) c.868G>T (n.868G>T) c.569G>T c.699G>T (p.Arg233Ser) c.531G>T (p.Arg177Ser) c.1587G>T (p.Arg529Ser) | |
| 17 | g.42543537G>A | CA399604115 | NAGLU | c.1531G>A (p.Gly511Ser) c.869G>A (n.869G>A) c.570G>A c.700G>A (p.Gly234Ser) c.532G>A (p.Gly178Ser) c.1588G>A (p.Gly530Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543537G>C | CA399604116 | NAGLU | c.1531G>C (p.Gly511Arg) c.869G>C (n.869G>C) c.570G>C c.700G>C (p.Gly234Arg) c.532G>C (p.Gly178Arg) c.1588G>C (p.Gly530Arg) | |
| 17 | g.42543537G= | CA2260530335 | NAGLU | c.1531G= (p.Gly511=) c.869G= (n.869G=) c.570G= c.700G= (p.Gly234=) c.532G= (p.Gly178=) c.1588G= (p.Gly530=) | |
| 17 | g.42543537G>T | CA290780734 | NAGLU | c.1531G>T (p.Gly511Cys) c.869G>T (n.869G>T) c.570G>T c.700G>T (p.Gly234Cys) c.532G>T (p.Gly178Cys) c.1588G>T (p.Gly530Cys) | dbSNP gnomAD v4 |
| 17 | g.42543538G>A | CA399604117 | NAGLU | c.1532G>A (p.Gly511Asp) c.870G>A (n.870G>A) c.571G>A c.701G>A (p.Gly234Asp) c.533G>A (p.Gly178Asp) c.1589G>A (p.Gly530Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543538G>C | CA399604118 | NAGLU | c.1532G>C (p.Gly511Ala) c.870G>C (n.870G>C) c.571G>C c.701G>C (p.Gly234Ala) c.533G>C (p.Gly178Ala) c.1589G>C (p.Gly530Ala) | |
| 17 | g.42543538G= | CA2260530336 | NAGLU | c.1532G= (p.Gly511=) c.870G= (n.870G=) c.571G= c.701G= (p.Gly234=) c.533G= (p.Gly178=) c.1589G= (p.Gly530=) | |
| 17 | g.42543538G>T | CA399604119 | NAGLU | c.1532G>T (p.Gly511Val) c.870G>T (n.870G>T) c.571G>T c.701G>T (p.Gly234Val) c.533G>T (p.Gly178Val) c.1589G>T (p.Gly530Val) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543539C>A | CA500217033 | NAGLU | c.1533C>A (p.Gly511=) c.871C>A (n.871C>A) c.572C>A c.702C>A (p.Gly234=) c.534C>A (p.Gly178=) c.1590C>A (p.Gly530=) | |
| 17 | g.42543539C= | CA2260530337 | NAGLU | c.1533C= (p.Gly511=) c.871C= (n.871C=) c.572C= c.702C= (p.Gly234=) c.534C= (p.Gly178=) c.1590C= (p.Gly530=) | |
| 17 | g.42543539C>G | CA500217032 | NAGLU | c.1533C>G (p.Gly511=) c.871C>G (n.871C>G) c.572C>G c.702C>G (p.Gly234=) c.534C>G (p.Gly178=) c.1590C>G (p.Gly530=) | |
| 17 | g.42543539C>T | CA8577046 | NAGLU | c.1533C>T (p.Gly511=) c.871C>T (n.871C>T) c.572C>T c.702C>T (p.Gly234=) c.534C>T (p.Gly178=) c.1590C>T (p.Gly530=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42543540C>A | CA399604122 | NAGLU | c.1534C>A (p.His512Asn) c.872C>A (n.872C>A) c.573C>A c.703C>A (p.His235Asn) c.535C>A (p.His179Asn) c.1591C>A (p.His531Asn) | |
| 17 | g.42543540C>G | CA399604120 | NAGLU | c.1534C>G (p.His512Asp) c.872C>G (n.872C>G) c.573C>G c.703C>G (p.His235Asp) c.535C>G (p.His179Asp) c.1591C>G (p.His531Asp) | |
| 17 | g.42543540C>T | CA399604121 | NAGLU | c.1534C>T (p.His512Tyr) c.872C>T (n.872C>T) c.573C>T c.703C>T (p.His235Tyr) c.535C>T (p.His179Tyr) c.1591C>T (p.His531Tyr) | |
| 17 | g.42543541A>C | CA399604123 | NAGLU | c.1535A>C (p.His512Pro) c.873A>C (n.873A>C) c.574A>C c.704A>C (p.His235Pro) c.536A>C (p.His179Pro) c.1592A>C (p.His531Pro) | |
| 17 | g.42543541A>G | CA399604124 | NAGLU | c.1535A>G (p.His512Arg) c.873A>G (n.873A>G) c.574A>G c.704A>G (p.His235Arg) c.536A>G (p.His179Arg) c.1592A>G (p.His531Arg) | |
| 17 | g.42543541A>T | CA399604125 | NAGLU | c.1535A>T (p.His512Leu) c.873A>T (n.873A>T) c.574A>T c.704A>T (p.His235Leu) c.536A>T (p.His179Leu) c.1592A>T (p.His531Leu) | |
| 17 | g.42543542del | CA2637971318 | NAGLU | c.1536del (p.His512GlnfsTer14) c.874del (n.874del) c.575del c.705del (p.His235GlnfsTer14) c.537del (p.His179GlnfsTer14) c.1593del (p.His531GlnfsTer14) | gnomAD v4 |
| 17 | g.42543542C>A | CA399604126 | NAGLU | c.1536C>A (p.His512Gln) c.874C>A (n.874C>A) c.575C>A c.705C>A (p.His235Gln) c.537C>A (p.His179Gln) c.1593C>A (p.His531Gln) | |
| 17 | g.42543542C= | CA2260530338 | NAGLU | c.1536C= (p.His512=) c.874C= (n.874C=) c.575C= c.705C= (p.His235=) c.537C= (p.His179=) c.1593C= (p.His531=) | |
| 17 | g.42543542C>G | CA399604127 | NAGLU | c.1536C>G (p.His512Gln) c.874C>G (n.874C>G) c.575C>G c.705C>G (p.His235Gln) c.537C>G (p.His179Gln) c.1593C>G (p.His531Gln) | |
| 17 | g.42543542C>T | CA500217034 | NAGLU | c.1536C>T (p.His512=) c.874C>T (n.874C>T) c.575C>T c.705C>T (p.His235=) c.537C>T (p.His179=) c.1593C>T (p.His531=) | dbSNP |
| 17 | g.42543543A>C | CA399604128 | NAGLU | c.1537A>C (p.Asn513His) c.875A>C (n.875A>C) c.576A>C c.706A>C (p.Asn236His) c.538A>C (p.Asn180His) c.1594A>C (p.Asn532His) | |
| 17 | g.42543543A>G | CA399604129 | NAGLU | c.1537A>G (p.Asn513Asp) c.875A>G (n.875A>G) c.576A>G c.706A>G (p.Asn236Asp) c.538A>G (p.Asn180Asp) c.1594A>G (p.Asn532Asp) | gnomAD v4 |
| 17 | g.42543543A>T | CA399604130 | NAGLU | c.1537A>T (p.Asn513Tyr) c.875A>T (n.875A>T) c.576A>T c.706A>T (p.Asn236Tyr) c.538A>T (p.Asn180Tyr) c.1594A>T (p.Asn532Tyr) | |
| 17 | g.42543544A= | CA2260530339 | NAGLU | c.1538A= (p.Asn513=) c.876A= (n.876A=) c.577A= c.707A= (p.Asn236=) c.539A= (p.Asn180=) c.1595A= (p.Asn532=) | |
| 17 | g.42543544A>C | CA399604131 | NAGLU | c.1538A>C (p.Asn513Thr) c.876A>C (n.876A>C) c.577A>C c.707A>C (p.Asn236Thr) c.539A>C (p.Asn180Thr) c.1595A>C (p.Asn532Thr) | |
| 17 | g.42543544A>G | CA8577047 | NAGLU | c.1538A>G (p.Asn513Ser) c.876A>G (n.876A>G) c.577A>G c.707A>G (p.Asn236Ser) c.539A>G (p.Asn180Ser) c.1595A>G (p.Asn532Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543544A>T | CA399604132 | NAGLU | c.1538A>T (p.Asn513Ile) c.876A>T (n.876A>T) c.577A>T c.707A>T (p.Asn236Ile) c.539A>T (p.Asn180Ile) c.1595A>T (p.Asn532Ile) | gnomAD v4 |
| 17 | g.42543545T>A | CA399604134 | NAGLU | c.1539T>A (p.Asn513Lys) c.877T>A (n.877T>A) c.578T>A c.708T>A (p.Asn236Lys) c.540T>A (p.Asn180Lys) c.1596T>A (p.Asn532Lys) | |
| 17 | g.42543545T>C | CA500217035 | NAGLU | c.1539T>C (p.Asn513=) c.877T>C (n.877T>C) c.578T>C c.708T>C (p.Asn236=) c.540T>C (p.Asn180=) c.1596T>C (p.Asn532=) | ClinVar dbSNP |
| 17 | g.42543545T>G | CA399604133 | NAGLU | c.1539T>G (p.Asn513Lys) c.877T>G (n.877T>G) c.578T>G c.708T>G (p.Asn236Lys) c.540T>G (p.Asn180Lys) c.1596T>G (p.Asn532Lys) | |
| 17 | g.42543546C>A | CA399604135 | NAGLU | c.1540C>A (p.Arg514Ser) c.878C>A (n.878C>A) c.579C>A c.709C>A (p.Arg237Ser) c.541C>A (p.Arg181Ser) c.1597C>A (p.Arg533Ser) | gnomAD v4 |
| 17 | g.42543546C= | CA2260530340 | NAGLU | c.1540C= (p.Arg514=) c.878C= (n.878C=) c.579C= c.709C= (p.Arg237=) c.541C= (p.Arg181=) c.1597C= (p.Arg533=) | |
| 17 | g.42543546C>G | CA399604136 | NAGLU | c.1540C>G (p.Arg514Gly) c.878C>G (n.878C>G) c.579C>G c.709C>G (p.Arg237Gly) c.541C>G (p.Arg181Gly) c.1597C>G (p.Arg533Gly) | ClinVar |
| 17 | g.42543546C>T | CA8577048 | NAGLU | c.1540C>T (p.Arg514Cys) c.878C>T (n.878C>T) c.579C>T c.709C>T (p.Arg237Cys) c.541C>T (p.Arg181Cys) c.1597C>T (p.Arg533Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.42543547G>A | CA8577049 | NAGLU | c.1541G>A (p.Arg514His) c.879G>A (n.879G>A) c.580G>A c.710G>A (p.Arg237His) c.542G>A (p.Arg181His) c.1598G>A (p.Arg533His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543547G>C | CA399604137 | NAGLU | c.1541G>C (p.Arg514Pro) c.879G>C (n.879G>C) c.580G>C c.710G>C (p.Arg237Pro) c.542G>C (p.Arg181Pro) c.1598G>C (p.Arg533Pro) | |
| 17 | g.42543547G= | CA2260530341 | NAGLU | c.1541G= (p.Arg514=) c.879G= (n.879G=) c.580G= c.710G= (p.Arg237=) c.542G= (p.Arg181=) c.1598G= (p.Arg533=) | |
| 17 | g.42543547G>T | CA399604138 | NAGLU | c.1541G>T (p.Arg514Leu) c.879G>T (n.879G>T) c.580G>T c.710G>T (p.Arg237Leu) c.542G>T (p.Arg181Leu) c.1598G>T (p.Arg533Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543548T>A | CA500217036 | NAGLU | c.1542T>A (p.Arg514=) c.880T>A (n.880T>A) c.581T>A c.711T>A (p.Arg237=) c.543T>A (p.Arg181=) c.1599T>A (p.Arg533=) | |
| 17 | g.42543548T>C | CA500217037 | NAGLU | c.1542T>C (p.Arg514=) c.880T>C (n.880T>C) c.581T>C c.711T>C (p.Arg237=) c.543T>C (p.Arg181=) c.1599T>C (p.Arg533=) | ClinVar dbSNP |
| 17 | g.42543548T>G | CA500217038 | NAGLU | c.1542T>G (p.Arg514=) c.880T>G (n.880T>G) c.581T>G c.711T>G (p.Arg237=) c.543T>G (p.Arg181=) c.1599T>G (p.Arg533=) | |
| 17 | g.42543549A>C | CA399604141 | NAGLU | c.1543A>C (p.Ser515Arg) c.881A>C (n.881A>C) c.582A>C c.712A>C (p.Ser238Arg) c.544A>C (p.Ser182Arg) c.1600A>C (p.Ser534Arg) | |
| 17 | g.42543549A>G | CA399604139 | NAGLU | c.1543A>G (p.Ser515Gly) c.881A>G (n.881A>G) c.582A>G c.712A>G (p.Ser238Gly) c.544A>G (p.Ser182Gly) c.1600A>G (p.Ser534Gly) | ClinVar |
| 17 | g.42543549A>T | CA399604140 | NAGLU | c.1543A>T (p.Ser515Cys) c.881A>T (n.881A>T) c.582A>T c.712A>T (p.Ser238Cys) c.544A>T (p.Ser182Cys) c.1600A>T (p.Ser534Cys) | |
| 17 | g.42543550G>A | CA399604142 | NAGLU | c.1544G>A (p.Ser515Asn) c.882G>A (n.882G>A) c.713G>A (p.Ser238Asn) c.545G>A (p.Ser182Asn) c.1601G>A (p.Ser534Asn) | |
| 17 | g.42543550G>C | CA399604143 | NAGLU | c.1544G>C (p.Ser515Thr) c.882G>C (n.882G>C) c.713G>C (p.Ser238Thr) c.545G>C (p.Ser182Thr) c.1601G>C (p.Ser534Thr) | |
| 17 | g.42543550G>T | CA399604144 | NAGLU | c.1544G>T (p.Ser515Ile) c.882G>T (n.882G>T) c.713G>T (p.Ser238Ile) c.545G>T (p.Ser182Ile) c.1601G>T (p.Ser534Ile) | gnomAD v4 |
| 17 | g.42543550dup | CA2637971319 | NAGLU | c.1544dup (p.Ser515ArgfsTer21) c.882dup (n.882dup) c.713dup (p.Ser238ArgfsTer21) c.545dup (p.Ser182ArgfsTer21) c.1601dup (p.Ser534ArgfsTer21) | gnomAD v4 |
| 17 | g.42543551C>A | CA399604145 | NAGLU | c.1545C>A (p.Ser515Arg) c.883C>A (n.883C>A) c.714C>A (p.Ser238Arg) c.546C>A (p.Ser182Arg) c.1602C>A (p.Ser534Arg) | |
| 17 | g.42543551C= | CA2260530342 | NAGLU | c.1545C= (p.Ser515=) c.883C= (n.883C=) c.714C= (p.Ser238=) c.546C= (p.Ser182=) c.1602C= (p.Ser534=) | |
| 17 | g.42543551C>G | CA399604146 | NAGLU | c.1545C>G (p.Ser515Arg) c.883C>G (n.883C>G) c.714C>G (p.Ser238Arg) c.546C>G (p.Ser182Arg) c.1602C>G (p.Ser534Arg) | |
| 17 | g.42543551C>T | CA500217039 | NAGLU | c.1545C>T (p.Ser515=) c.883C>T (n.883C>T) c.714C>T (p.Ser238=) c.546C>T (p.Ser182=) c.1602C>T (p.Ser534=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543552C>A | CA399604147 | NAGLU | c.1546C>A (p.Pro516Thr) c.884C>A (n.884C>A) c.715C>A (p.Pro239Thr) c.547C>A (p.Pro183Thr) c.1603C>A (p.Pro535Thr) | |
| 17 | g.42543552C= | CA2260530343 | NAGLU | c.1546C= (p.Pro516=) c.884C= (n.884C=) c.715C= (p.Pro239=) c.547C= (p.Pro183=) c.1603C= (p.Pro535=) | |
| 17 | g.42543552C>G | CA399604149 | NAGLU | c.1546C>G (p.Pro516Ala) c.884C>G (n.884C>G) c.715C>G (p.Pro239Ala) c.547C>G (p.Pro183Ala) c.1603C>G (p.Pro535Ala) | |
| 17 | g.42543552C>T | CA399604148 | NAGLU | c.1546C>T (p.Pro516Ser) c.884C>T (n.884C>T) c.715C>T (p.Pro239Ser) c.547C>T (p.Pro183Ser) c.1603C>T (p.Pro535Ser) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42543553C>A | CA399604150 | NAGLU | c.1547C>A (p.Pro516Gln) c.885C>A (n.885C>A) c.716C>A (p.Pro239Gln) c.548C>A (p.Pro183Gln) c.1604C>A (p.Pro535Gln) | gnomAD v4 |
| 17 | g.42543553C= | CA2260530344 | NAGLU | c.1547C= (p.Pro516=) c.885C= (n.885C=) c.716C= (p.Pro239=) c.548C= (p.Pro183=) c.1604C= (p.Pro535=) | |
| 17 | g.42543553C>G | CA399604151 | NAGLU | c.1547C>G (p.Pro516Arg) c.885C>G (n.885C>G) c.716C>G (p.Pro239Arg) c.548C>G (p.Pro183Arg) c.1604C>G (p.Pro535Arg) | |
| 17 | g.42543553C>T | CA8577050 | NAGLU | c.1547C>T (p.Pro516Leu) c.885C>T (n.885C>T) c.716C>T (p.Pro239Leu) c.548C>T (p.Pro183Leu) c.1604C>T (p.Pro535Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42543554G>A | CA500217041 | NAGLU | c.1548G>A (p.Pro516=) c.886G>A (n.886G>A) c.717G>A (p.Pro239=) c.549G>A (p.Pro183=) c.1605G>A (p.Pro535=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543554G>C | CA500217042 | NAGLU | c.1548G>C (p.Pro516=) c.886G>C (n.886G>C) c.717G>C (p.Pro239=) c.549G>C (p.Pro183=) c.1605G>C (p.Pro535=) | |
| 17 | g.42543554G= | CA2260530345 | NAGLU | c.1548G= (p.Pro516=) c.886G= (n.886G=) c.717G= (p.Pro239=) c.549G= (p.Pro183=) c.1605G= (p.Pro535=) | |
| 17 | g.42543554G>T | CA500217040 | NAGLU | c.1548G>T (p.Pro516=) c.886G>T (n.886G>T) c.717G>T (p.Pro239=) c.549G>T (p.Pro183=) c.1605G>T (p.Pro535=) | gnomAD v4 |
| 17 | g.42543555C>A | CA399604152 | NAGLU | c.1549C>A (p.Leu517Met) c.887C>A (n.887C>A) c.718C>A (p.Leu240Met) c.550C>A (p.Leu184Met) c.1606C>A (p.Leu536Met) | |
| 17 | g.42543555C>G | CA399604153 | NAGLU | c.1549C>G (p.Leu517Val) c.887C>G (n.887C>G) c.718C>G (p.Leu240Val) c.550C>G (p.Leu184Val) c.1606C>G (p.Leu536Val) | |
| 17 | g.42543555C>T | CA500217043 | NAGLU | c.1549C>T (p.Leu517=) c.887C>T (n.887C>T) c.718C>T (p.Leu240=) c.550C>T (p.Leu184=) c.1606C>T (p.Leu536=) | ClinVar |
| 17 | g.42543556T>A | CA399604154 | NAGLU | c.1550T>A (p.Leu517Gln) c.888T>A (n.888T>A) c.719T>A (p.Leu240Gln) c.551T>A (p.Leu184Gln) c.1607T>A (p.Leu536Gln) | |
| 17 | g.42543556T>C | CA399604155 | NAGLU | c.1550T>C (p.Leu517Pro) c.888T>C (n.888T>C) c.719T>C (p.Leu240Pro) c.551T>C (p.Leu184Pro) c.1607T>C (p.Leu536Pro) | |
| 17 | g.42543556T>G | CA399604156 | NAGLU | c.1550T>G (p.Leu517Arg) c.888T>G (n.888T>G) c.719T>G (p.Leu240Arg) c.551T>G (p.Leu184Arg) c.1607T>G (p.Leu536Arg) | |
| 17 | g.42543556_42543557delinsTG | CA2260530346 | NAGLU | c.1550_1551delinsTG (p.Leu517=) c.888_889delinsTG (n.888_889delinsTG) c.719_720delinsTG (p.Leu240=) c.551_552delinsTG (p.Leu184=) c.1607_1608delinsTG (p.Leu536=) | |
| 17 | g.42543557G>A | CA500217044 | NAGLU | c.1551G>A (p.Leu517=) c.889G>A (n.889G>A) c.720G>A (p.Leu240=) c.552G>A (p.Leu184=) c.1608G>A (p.Leu536=) | gnomAD v4 |
| 17 | g.42543557G>C | CA500217045 | NAGLU | c.1551G>C (p.Leu517=) c.889G>C (n.889G>C) c.720G>C (p.Leu240=) c.552G>C (p.Leu184=) c.1608G>C (p.Leu536=) | |
| 17 | g.42543557G>T | CA500217046 | NAGLU | c.1551G>T (p.Leu517=) c.889G>T (n.889G>T) c.720G>T (p.Leu240=) c.552G>T (p.Leu184=) c.1608G>T (p.Leu536=) | |
| 17 | g.42543558del | CA1139665542 | NAGLU | c.1552del (p.Val518SerfsTer8) c.890del (n.890del) c.721del (p.Val241SerfsTer8) c.553del (p.Val185SerfsTer8) c.1609del (p.Val537SerfsTer8) | ClinVar dbSNP |
| 17 | g.42543558G>A | CA399604157 | NAGLU | c.1552G>A (p.Val518Ile) c.890G>A (n.890G>A) c.721G>A (p.Val241Ile) c.553G>A (p.Val185Ile) c.1609G>A (p.Val537Ile) | |
| 17 | g.42543558G>C | CA399604158 | NAGLU | c.1552G>C (p.Val518Leu) c.890G>C (n.890G>C) c.721G>C (p.Val241Leu) c.553G>C (p.Val185Leu) c.1609G>C (p.Val537Leu) | |
| 17 | g.42543558G>T | CA399604159 | NAGLU | c.1552G>T (p.Val518Phe) c.890G>T (n.890G>T) c.721G>T (p.Val241Phe) c.553G>T (p.Val185Phe) c.1609G>T (p.Val537Phe) | gnomAD v4 |
| 17 | g.42543559T>A | CA399604161 | NAGLU | c.1553T>A (p.Val518Asp) c.891T>A (n.891T>A) c.722T>A (p.Val241Asp) c.554T>A (p.Val185Asp) c.1610T>A (p.Val537Asp) | |
| 17 | g.42543559T>C | CA399604162 | NAGLU | c.1553T>C (p.Val518Ala) c.891T>C (n.891T>C) c.722T>C (p.Val241Ala) c.554T>C (p.Val185Ala) c.1610T>C (p.Val537Ala) | |
| 17 | g.42543559T>G | CA399604160 | NAGLU | c.1553T>G (p.Val518Gly) c.891T>G (n.891T>G) c.722T>G (p.Val241Gly) c.554T>G (p.Val185Gly) c.1610T>G (p.Val537Gly) | |
| 17 | g.42543560C>A | CA500217047 | NAGLU | c.1554C>A (p.Val518=) c.892C>A (n.892C>A) c.723C>A (p.Val241=) c.555C>A (p.Val185=) c.1611C>A (p.Val537=) | gnomAD v4 |
| 17 | g.42543560C>G | CA500217049 | NAGLU | c.1554C>G (p.Val518=) c.892C>G (n.892C>G) c.723C>G (p.Val241=) c.555C>G (p.Val185=) c.1611C>G (p.Val537=) | |
| 17 | g.42543560C>T | CA500217048 | NAGLU | c.1554C>T (p.Val518=) c.892C>T (n.892C>T) c.723C>T (p.Val241=) c.555C>T (p.Val185=) c.1611C>T (p.Val537=) | |
| 17 | g.42543561A>C | CA500217050 | NAGLU | c.1555A>C (p.Arg519=) c.893A>C (n.893A>C) c.724A>C (p.Arg242=) c.556A>C (p.Arg186=) c.1612A>C (p.Arg538=) | |
| 17 | g.42543561A>G | CA399604164 | NAGLU | c.1555A>G (p.Arg519Gly) c.893A>G (n.893A>G) c.724A>G (p.Arg242Gly) c.556A>G (p.Arg186Gly) c.1612A>G (p.Arg538Gly) | |
| 17 | g.42543561A>T | CA399604163 | NAGLU | c.1555A>T (p.Arg519Trp) c.893A>T (n.893A>T) c.724A>T (p.Arg242Trp) c.556A>T (p.Arg186Trp) c.1612A>T (p.Arg538Trp) | |
| 17 | g.42543562G>A | CA399604165 | NAGLU | c.1556G>A (p.Arg519Lys) c.894G>A (n.894G>A) c.725G>A (p.Arg242Lys) c.557G>A (p.Arg186Lys) c.1613G>A (p.Arg538Lys) | ClinVar |
| 17 | g.42543562G>C | CA399604166 | NAGLU | c.1556G>C (p.Arg519Thr) c.894G>C (n.894G>C) c.725G>C (p.Arg242Thr) c.557G>C (p.Arg186Thr) c.1613G>C (p.Arg538Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543562G= | CA2260530347 | NAGLU | c.1556G= (p.Arg519=) c.894G= (n.894G=) c.725G= (p.Arg242=) c.557G= (p.Arg186=) c.1613G= (p.Arg538=) | |
| 17 | g.42543562G>T | CA399604167 | NAGLU | c.1556G>T (p.Arg519Met) c.894G>T (n.894G>T) c.725G>T (p.Arg242Met) c.557G>T (p.Arg186Met) c.1613G>T (p.Arg538Met) | |
| 17 | g.42543565_42543567dup | CA2637971323 | NAGLU | c.1559_1561dup (p.Arg520_Pro521insArg) c.897_899dup (n.897_899dup) c.728_730dup (p.Arg243_Pro244insArg) c.560_562dup (p.Arg187_Pro188insArg) c.1616_1618dup (p.Arg539_Pro540insArg) | gnomAD v4 |
| 17 | g.42543563G>A | CA8577051 | NAGLU | c.1557G>A (p.Arg519=) c.895G>A (n.895G>A) c.726G>A (p.Arg242=) c.558G>A (p.Arg186=) c.1614G>A (p.Arg538=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543563G>C | CA399604168 | NAGLU | c.1557G>C (p.Arg519Ser) c.895G>C (n.895G>C) c.726G>C (p.Arg242Ser) c.558G>C (p.Arg186Ser) c.1614G>C (p.Arg538Ser) | |
| 17 | g.42543563G= | CA2260530348 | NAGLU | c.1557G= (p.Arg519=) c.895G= (n.895G=) c.726G= (p.Arg242=) c.558G= (p.Arg186=) c.1614G= (p.Arg538=) | |
| 17 | g.42543563G>T | CA399604169 | NAGLU | c.1557G>T (p.Arg519Ser) c.895G>T (n.895G>T) c.726G>T (p.Arg242Ser) c.558G>T (p.Arg186Ser) c.1614G>T (p.Arg538Ser) | gnomAD v4 |
| 17 | g.42543564C>A | CA500217051 | NAGLU | c.1558C>A (p.Arg520=) c.896C>A (n.896C>A) c.727C>A (p.Arg243=) c.559C>A (p.Arg187=) c.1615C>A (p.Arg539=) | gnomAD v4 |
| 17 | g.42543564C= | CA2260530349 | NAGLU | c.1558C= (p.Arg520=) c.896C= (n.896C=) c.727C= (p.Arg243=) c.559C= (p.Arg187=) c.1615C= (p.Arg539=) | |
| 17 | g.42543564C>G | CA399604170 | NAGLU | c.1558C>G (p.Arg520Gly) c.896C>G (n.896C>G) c.727C>G (p.Arg243Gly) c.559C>G (p.Arg187Gly) c.1615C>G (p.Arg539Gly) | |
| 17 | g.42543564C>T | CA290780757 | NAGLU | c.1558C>T (p.Arg520Trp) c.896C>T (n.896C>T) c.727C>T (p.Arg243Trp) c.559C>T (p.Arg187Trp) c.1615C>T (p.Arg539Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543565G>A | CA399604171 | NAGLU | c.1559G>A (p.Arg520Gln) c.897G>A (n.897G>A) c.728G>A (p.Arg243Gln) c.560G>A (p.Arg187Gln) c.1616G>A (p.Arg539Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.42543565G>C | CA399604172 | NAGLU | c.1559G>C (p.Arg520Pro) c.897G>C (n.897G>C) c.728G>C (p.Arg243Pro) c.560G>C (p.Arg187Pro) c.1616G>C (p.Arg539Pro) | |
| 17 | g.42543565G= | CA2260530350 | NAGLU | c.1559G= (p.Arg520=) c.897G= (n.897G=) c.728G= (p.Arg243=) c.560G= (p.Arg187=) c.1616G= (p.Arg539=) | |
| 17 | g.42543565G>T | CA399604173 | NAGLU | c.1559G>T (p.Arg520Leu) c.897G>T (n.897G>T) c.728G>T (p.Arg243Leu) c.560G>T (p.Arg187Leu) c.1616G>T (p.Arg539Leu) | gnomAD v4 |
| 17 | g.42543566G>A | CA8577052 | NAGLU | c.1560G>A (p.Arg520=) c.898G>A (n.898G>A) c.729G>A (p.Arg243=) c.561G>A (p.Arg187=) c.1617G>A (p.Arg539=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42543566G>C | CA500217053 | NAGLU | c.1560G>C (p.Arg520=) c.898G>C (n.898G>C) c.729G>C (p.Arg243=) c.561G>C (p.Arg187=) c.1617G>C (p.Arg539=) | |
| 17 | g.42543566G= | CA2260530351 | NAGLU | c.1560G= (p.Arg520=) c.898G= (n.898G=) c.729G= (p.Arg243=) c.561G= (p.Arg187=) c.1617G= (p.Arg539=) | |
| 17 | g.42543566G>T | CA500217052 | NAGLU | c.1560G>T (p.Arg520=) c.898G>T (n.898G>T) c.729G>T (p.Arg243=) c.561G>T (p.Arg187=) c.1617G>T (p.Arg539=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543566_42543567delinsTT | CA2695225865 | NAGLU | c.1560_1561delinsTT (p.Pro521Ser) c.898_899delinsTT (n.898_899delinsTT) c.729_730delinsTT (p.Pro244Ser) c.561_562delinsTT (p.Pro188Ser) c.1617_1618delinsTT (p.Pro540Ser) | |
| 17 | g.42543567C>A | CA399604176 | NAGLU | c.1561C>A (p.Pro521Thr) c.899C>A (n.899C>A) c.730C>A (p.Pro244Thr) c.562C>A (p.Pro188Thr) c.1618C>A (p.Pro540Thr) | |
| 17 | g.42543567C= | CA2260530352 | NAGLU | c.1561C= (p.Pro521=) c.899C= (n.899C=) c.730C= (p.Pro244=) c.562C= (p.Pro188=) c.1618C= (p.Pro540=) | |
| 17 | g.42543567C>G | CA399604174 | NAGLU | c.1561C>G (p.Pro521Ala) c.899C>G (n.899C>G) c.730C>G (p.Pro244Ala) c.562C>G (p.Pro188Ala) c.1618C>G (p.Pro540Ala) | |
| 17 | g.42543567C>T | CA399604175 | NAGLU | c.1561C>T (p.Pro521Ser) c.899C>T (n.899C>T) c.730C>T (p.Pro244Ser) c.562C>T (p.Pro188Ser) c.1618C>T (p.Pro540Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543568C>A | CA399604177 | NAGLU | c.1562C>A (p.Pro521Gln) c.900C>A (n.900C>A) c.731C>A (p.Pro244Gln) c.563C>A (p.Pro188Gln) c.1619C>A (p.Pro540Gln) | |
| 17 | g.42543568C= | CA2260530353 | NAGLU | c.1562C= (p.Pro521=) c.900C= (n.900C=) c.731C= (p.Pro244=) c.563C= (p.Pro188=) c.1619C= (p.Pro540=) | |
| 17 | g.42543568C>G | CA399604178 | NAGLU | c.1562C>G (p.Pro521Arg) c.900C>G (n.900C>G) c.731C>G (p.Pro244Arg) c.563C>G (p.Pro188Arg) c.1619C>G (p.Pro540Arg) | |
| 17 | g.42543568C>T | CA115049 | NAGLU | c.1562C>T (p.Pro521Leu) c.900C>T (n.900C>T) c.731C>T (p.Pro244Leu) c.563C>T (p.Pro188Leu) c.1619C>T (p.Pro540Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543569G>A | CA8577053 | NAGLU | c.1563G>A (p.Pro521=) c.901G>A (n.901G>A) c.732G>A (p.Pro244=) c.564G>A (p.Pro188=) c.1620G>A (p.Pro540=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543569G>C | CA500217054 | NAGLU | c.1563G>C (p.Pro521=) c.901G>C (n.901G>C) c.732G>C (p.Pro244=) c.564G>C (p.Pro188=) c.1620G>C (p.Pro540=) | |
| 17 | g.42543569G= | CA2260530354 | NAGLU | c.1563G= (p.Pro521=) c.901G= (n.901G=) c.732G= (p.Pro244=) c.564G= (p.Pro188=) c.1620G= (p.Pro540=) | |
| 17 | g.42543569G>T | CA500217055 | NAGLU | c.1563G>T (p.Pro521=) c.901G>T (n.901G>T) c.732G>T (p.Pro244=) c.564G>T (p.Pro188=) c.1620G>T (p.Pro540=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42543570T>A | CA399604179 | NAGLU | c.1564T>A (p.Ser522Thr) c.902T>A (n.902T>A) c.733T>A (p.Ser245Thr) c.565T>A (p.Ser189Thr) c.1621T>A (p.Ser541Thr) | |
| 17 | g.42543570T>C | CA399604180 | NAGLU | c.1564T>C (p.Ser522Pro) c.902T>C (n.902T>C) c.733T>C (p.Ser245Pro) c.565T>C (p.Ser189Pro) c.1621T>C (p.Ser541Pro) | |
| 17 | g.42543570T>G | CA399604181 | NAGLU | c.1564T>G (p.Ser522Ala) c.902T>G (n.902T>G) c.733T>G (p.Ser245Ala) c.565T>G (p.Ser189Ala) c.1621T>G (p.Ser541Ala) | |
| 17 | g.42543571C>A | CA399604182 | NAGLU | c.1565C>A (p.Ser522Tyr) c.903C>A (n.903C>A) c.734C>A (p.Ser245Tyr) c.566C>A (p.Ser189Tyr) c.1622C>A (p.Ser541Tyr) | |
| 17 | g.42543571C= | CA2260530355 | NAGLU | c.1565C= (p.Ser522=) c.903C= (n.903C=) c.734C= (p.Ser245=) c.566C= (p.Ser189=) c.1622C= (p.Ser541=) | |
| 17 | g.42543571C>G | CA399604183 | NAGLU | c.1565C>G (p.Ser522Cys) c.903C>G (n.903C>G) c.734C>G (p.Ser245Cys) c.566C>G (p.Ser189Cys) c.1622C>G (p.Ser541Cys) | |
| 17 | g.42543571C>T | CA8577054 | NAGLU | c.1565C>T (p.Ser522Phe) c.903C>T (n.903C>T) c.734C>T (p.Ser245Phe) c.566C>T (p.Ser189Phe) c.1622C>T (p.Ser541Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543572C>A | CA500217056 | NAGLU | c.1566C>A (p.Ser522=) c.904C>A (n.904C>A) c.735C>A (p.Ser245=) c.567C>A (p.Ser189=) c.1623C>A (p.Ser541=) | ClinVar |
| 17 | g.42543572C>G | CA500217058 | NAGLU | c.1566C>G (p.Ser522=) c.904C>G (n.904C>G) c.735C>G (p.Ser245=) c.567C>G (p.Ser189=) c.1623C>G (p.Ser541=) | gnomAD v4 |
| 17 | g.42543572C>T | CA500217057 | NAGLU | c.1566C>T (p.Ser522=) c.904C>T (n.904C>T) c.735C>T (p.Ser245=) c.567C>T (p.Ser189=) c.1623C>T (p.Ser541=) | gnomAD v4 |
| 17 | g.42543573C>A | CA399604184 | NAGLU | c.1567C>A (p.Leu523Ile) c.905C>A (n.905C>A) c.736C>A (p.Leu246Ile) c.568C>A (p.Leu190Ile) c.1624C>A (p.Leu542Ile) | |
| 17 | g.42543573C>G | CA399604185 | NAGLU | c.1567C>G (p.Leu523Val) c.905C>G (n.905C>G) c.736C>G (p.Leu246Val) c.568C>G (p.Leu190Val) c.1624C>G (p.Leu542Val) | |
| 17 | g.42543573C>T | CA500217059 | NAGLU | c.1567C>T (p.Leu523=) c.905C>T (n.905C>T) c.736C>T (p.Leu246=) c.568C>T (p.Leu190=) c.1624C>T (p.Leu542=) | gnomAD v4 |
| 17 | g.42543574T>A | CA399604188 | NAGLU | c.1568T>A (p.Leu523Gln) c.906T>A (n.906T>A) c.737T>A (p.Leu246Gln) c.569T>A (p.Leu190Gln) c.1625T>A (p.Leu542Gln) | |
| 17 | g.42543574T>C | CA399604187 | NAGLU | c.1568T>C (p.Leu523Pro) c.906T>C (n.906T>C) c.737T>C (p.Leu246Pro) c.569T>C (p.Leu190Pro) c.1625T>C (p.Leu542Pro) | |
| 17 | g.42543574T>G | CA399604186 | NAGLU | c.1568T>G (p.Leu523Arg) c.906T>G (n.906T>G) c.737T>G (p.Leu246Arg) c.569T>G (p.Leu190Arg) c.1625T>G (p.Leu542Arg) | |
| 17 | g.42543575A>C | CA500217062 | NAGLU | c.1569A>C (p.Leu523=) c.907A>C (n.907A>C) c.738A>C (p.Leu246=) c.570A>C (p.Leu190=) c.1626A>C (p.Leu542=) | |
| 17 | g.42543575A>G | CA500217060 | NAGLU | c.1569A>G (p.Leu523=) c.907A>G (n.907A>G) c.738A>G (p.Leu246=) c.570A>G (p.Leu190=) c.1626A>G (p.Leu542=) | ClinVar |
| 17 | g.42543575A>T | CA500217061 | NAGLU | c.1569A>T (p.Leu523=) c.907A>T (n.907A>T) c.738A>T (p.Leu246=) c.570A>T (p.Leu190=) c.1626A>T (p.Leu542=) | |
| 17 | g.42543576C>A | CA399604189 | NAGLU | c.1570C>A (p.Gln524Lys) c.908C>A (n.908C>A) c.739C>A (p.Gln247Lys) c.571C>A (p.Gln191Lys) c.1627C>A (p.Gln543Lys) | |
| 17 | g.42543576C>G | CA399604190 | NAGLU | c.1570C>G (p.Gln524Glu) c.908C>G (n.908C>G) c.739C>G (p.Gln247Glu) c.571C>G (p.Gln191Glu) c.1627C>G (p.Gln543Glu) | |
| 17 | g.42543576C>T | CA399604191 | NAGLU | c.1570C>T (p.Gln524Ter) c.908C>T (n.908C>T) c.739C>T (p.Gln247Ter) c.571C>T (p.Gln191Ter) c.1627C>T (p.Gln543Ter) | ClinVar dbSNP |
| 17 | g.42543577A= | CA2260530356 | NAGLU | c.1571A= (p.Gln524=) c.909A= (n.909A=) c.740A= (p.Gln247=) c.572A= (p.Gln191=) c.1628A= (p.Gln543=) | |
| 17 | g.42543577A>C | CA399604192 | NAGLU | c.1571A>C (p.Gln524Pro) c.909A>C (n.909A>C) c.740A>C (p.Gln247Pro) c.572A>C (p.Gln191Pro) c.1628A>C (p.Gln543Pro) | |
| 17 | g.42543577A>G | CA8577055 | NAGLU | c.1571A>G (p.Gln524Arg) c.909A>G (n.909A>G) c.740A>G (p.Gln247Arg) c.572A>G (p.Gln191Arg) c.1628A>G (p.Gln543Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543577A>T | CA399604193 | NAGLU | c.1571A>T (p.Gln524Leu) c.909A>T (n.909A>T) c.740A>T (p.Gln247Leu) c.572A>T (p.Gln191Leu) c.1628A>T (p.Gln543Leu) | dbSNP gnomAD v4 |
| 17 | g.42543578G>A | CA500217063 | NAGLU | c.1572G>A (p.Gln524=) c.910G>A (n.910G>A) c.741G>A (p.Gln247=) c.573G>A (p.Gln191=) c.1629G>A (p.Gln543=) | ClinVar gnomAD v4 |
| 17 | g.42543578G>C | CA399604195 | NAGLU | c.1572G>C (p.Gln524His) c.910G>C (n.910G>C) c.741G>C (p.Gln247His) c.573G>C (p.Gln191His) c.1629G>C (p.Gln543His) | |
| 17 | g.42543578G>T | CA399604194 | NAGLU | c.1572G>T (p.Gln524His) c.910G>T (n.910G>T) c.741G>T (p.Gln247His) c.573G>T (p.Gln191His) c.1629G>T (p.Gln543His) | |
| 17 | g.42543579A= | CA2260530357 | NAGLU | c.1573A= (p.Met525=) c.911A= (n.911A=) c.742A= (p.Met248=) c.574A= (p.Met192=) c.1630A= (p.Met544=) | |
| 17 | g.42543579A>C | CA399604196 | NAGLU | c.1573A>C (p.Met525Leu) c.911A>C (n.911A>C) c.742A>C (p.Met248Leu) c.574A>C (p.Met192Leu) c.1630A>C (p.Met544Leu) | |
| 17 | g.42543579A>G | CA399604197 | NAGLU | c.1573A>G (p.Met525Val) c.911A>G (n.911A>G) c.742A>G (p.Met248Val) c.574A>G (p.Met192Val) c.1630A>G (p.Met544Val) | gnomAD v4 |
| 17 | g.42543579A>T | CA290780769 | NAGLU | c.1573A>T (p.Met525Leu) c.911A>T (n.911A>T) c.742A>T (p.Met248Leu) c.574A>T (p.Met192Leu) c.1630A>T (p.Met544Leu) | dbSNP |
| 17 | g.42543580T>A | CA399604198 | NAGLU | c.1574T>A (p.Met525Lys) c.912T>A (n.912T>A) c.743T>A (p.Met248Lys) c.575T>A (p.Met192Lys) c.1631T>A (p.Met544Lys) | |
| 17 | g.42543580T>C | CA399604199 | NAGLU | c.1574T>C (p.Met525Thr) c.912T>C (n.912T>C) c.743T>C (p.Met248Thr) c.575T>C (p.Met192Thr) c.1631T>C (p.Met544Thr) | gnomAD v4 |
| 17 | g.42543580T>G | CA399604200 | NAGLU | c.1574T>G (p.Met525Arg) c.912T>G (n.912T>G) c.743T>G (p.Met248Arg) c.575T>G (p.Met192Arg) c.1631T>G (p.Met544Arg) | |
| 17 | g.42543581G>A | CA399604201 | NAGLU | c.1575G>A (p.Met525Ile) c.913G>A (n.913G>A) c.744G>A (p.Met248Ile) c.576G>A (p.Met192Ile) c.1632G>A (p.Met544Ile) | |
| 17 | g.42543581G>C | CA399604202 | NAGLU | c.1575G>C (p.Met525Ile) c.913G>C (n.913G>C) c.744G>C (p.Met248Ile) c.576G>C (p.Met192Ile) c.1632G>C (p.Met544Ile) | |
| 17 | g.42543581G= | CA2260530358 | NAGLU | c.1575G= (p.Met525=) c.913G= (n.913G=) c.744G= (p.Met248=) c.576G= (p.Met192=) c.1632G= (p.Met544=) | |
| 17 | g.42543581G>T | CA290780780 | NAGLU | c.1575G>T (p.Met525Ile) c.913G>T (n.913G>T) c.744G>T (p.Met248Ile) c.576G>T (p.Met192Ile) c.1632G>T (p.Met544Ile) | dbSNP gnomAD v4 |
| 17 | g.42543582A>C | CA399604203 | NAGLU | c.1576A>C (p.Asn526His) c.914A>C (n.914A>C) c.745A>C (p.Asn249His) c.577A>C (p.Asn193His) c.1633A>C (p.Asn545His) | |
| 17 | g.42543582A>G | CA399604204 | NAGLU | c.1576A>G (p.Asn526Asp) c.914A>G (n.914A>G) c.745A>G (p.Asn249Asp) c.577A>G (p.Asn193Asp) c.1633A>G (p.Asn545Asp) | |
| 17 | g.42543582A>T | CA399604205 | NAGLU | c.1576A>T (p.Asn526Tyr) c.914A>T (n.914A>T) c.745A>T (p.Asn249Tyr) c.577A>T (p.Asn193Tyr) c.1633A>T (p.Asn545Tyr) | |
| 17 | g.42543583A>C | CA399604206 | NAGLU | c.1577A>C (p.Asn526Thr) c.915A>C (n.915A>C) c.746A>C (p.Asn249Thr) c.578A>C (p.Asn193Thr) c.1634A>C (p.Asn545Thr) | gnomAD v4 |
| 17 | g.42543583A>G | CA399604207 | NAGLU | c.1577A>G (p.Asn526Ser) c.915A>G (n.915A>G) c.746A>G (p.Asn249Ser) c.578A>G (p.Asn193Ser) c.1634A>G (p.Asn545Ser) | COSMIC |
| 17 | g.42543583A>T | CA399604208 | NAGLU | c.1577A>T (p.Asn526Ile) c.915A>T (n.915A>T) c.746A>T (p.Asn249Ile) c.578A>T (p.Asn193Ile) c.1634A>T (p.Asn545Ile) | |
| 17 | g.42543584T>A | CA399604209 | NAGLU | c.1578T>A (p.Asn526Lys) c.916T>A (n.916T>A) c.747T>A (p.Asn249Lys) c.579T>A (p.Asn193Lys) c.1635T>A (p.Asn545Lys) | |
| 17 | g.42543584T>C | CA500217067 | NAGLU | c.1578T>C (p.Asn526=) c.916T>C (n.916T>C) c.747T>C (p.Asn249=) c.579T>C (p.Asn193=) c.1635T>C (p.Asn545=) | |
| 17 | g.42543584T>G | CA399604210 | NAGLU | c.1578T>G (p.Asn526Lys) c.916T>G (n.916T>G) c.747T>G (p.Asn249Lys) c.579T>G (p.Asn193Lys) c.1635T>G (p.Asn545Lys) | |
| 17 | g.42543585A= | CA2260530359 | NAGLU | c.1579A= (p.Thr527=) c.917A= (n.917A=) c.748A= (p.Thr250=) c.580A= (p.Thr194=) c.1636A= (p.Thr546=) | |
| 17 | g.42543585A>C | CA399604211 | NAGLU | c.1579A>C (p.Thr527Pro) c.917A>C (n.917A>C) c.748A>C (p.Thr250Pro) c.580A>C (p.Thr194Pro) c.1636A>C (p.Thr546Pro) | dbSNP |
| 17 | g.42543585A>G | CA399604212 | NAGLU | c.1579A>G (p.Thr527Ala) c.917A>G (n.917A>G) c.748A>G (p.Thr250Ala) c.580A>G (p.Thr194Ala) c.1636A>G (p.Thr546Ala) | |
| 17 | g.42543585A>T | CA399604213 | NAGLU | c.1579A>T (p.Thr527Ser) c.917A>T (n.917A>T) c.748A>T (p.Thr250Ser) c.580A>T (p.Thr194Ser) c.1636A>T (p.Thr546Ser) | |
| 17 | g.42543586C>A | CA399604216 | NAGLU | c.1580C>A (p.Thr527Asn) c.918C>A (n.918C>A) c.749C>A (p.Thr250Asn) c.581C>A (p.Thr194Asn) c.1637C>A (p.Thr546Asn) | |
| 17 | g.42543586C>G | CA399604215 | NAGLU | c.1580C>G (p.Thr527Ser) c.918C>G (n.918C>G) c.749C>G (p.Thr250Ser) c.581C>G (p.Thr194Ser) c.1637C>G (p.Thr546Ser) | |
| 17 | g.42543586C>T | CA399604214 | NAGLU | c.1580C>T (p.Thr527Ile) c.918C>T (n.918C>T) c.749C>T (p.Thr250Ile) c.581C>T (p.Thr194Ile) c.1637C>T (p.Thr546Ile) | COSMIC |
| 17 | g.42543587C>A | CA500217069 | NAGLU | c.1581C>A (p.Thr527=) c.919C>A (n.919C>A) c.750C>A (p.Thr250=) c.582C>A (p.Thr194=) c.1638C>A (p.Thr546=) | |
| 17 | g.42543587C>G | CA500217071 | NAGLU | c.1581C>G (p.Thr527=) c.919C>G (n.919C>G) c.750C>G (p.Thr250=) c.582C>G (p.Thr194=) c.1638C>G (p.Thr546=) | |
| 17 | g.42543587C>T | CA500217070 | NAGLU | c.1581C>T (p.Thr527=) c.919C>T (n.919C>T) c.750C>T (p.Thr250=) c.582C>T (p.Thr194=) c.1638C>T (p.Thr546=) | |
| 17 | g.42543588A>C | CA399604217 | NAGLU | c.1582A>C (p.Ser528Arg) c.920A>C (n.920A>C) c.751A>C (p.Ser251Arg) c.583A>C (p.Ser195Arg) c.1639A>C (p.Ser547Arg) | |
| 17 | g.42543588A>G | CA399604219 | NAGLU | c.1582A>G (p.Ser528Gly) c.920A>G (n.920A>G) c.751A>G (p.Ser251Gly) c.583A>G (p.Ser195Gly) c.1639A>G (p.Ser547Gly) | |
| 17 | g.42543588A>T | CA399604218 | NAGLU | c.1582A>T (p.Ser528Cys) c.920A>T (n.920A>T) c.751A>T (p.Ser251Cys) c.583A>T (p.Ser195Cys) c.1639A>T (p.Ser547Cys) | |
| 17 | g.42543589G>A | CA399604220 | NAGLU | c.1583G>A (p.Ser528Asn) c.921G>A (n.921G>A) c.752G>A (p.Ser251Asn) c.584G>A (p.Ser195Asn) c.1640G>A (p.Ser547Asn) | |
| 17 | g.42543589G>C | CA399604222 | NAGLU | c.1583G>C (p.Ser528Thr) c.921G>C (n.921G>C) c.752G>C (p.Ser251Thr) c.584G>C (p.Ser195Thr) c.1640G>C (p.Ser547Thr) | |
| 17 | g.42543589G>T | CA399604221 | NAGLU | c.1583G>T (p.Ser528Ile) c.921G>T (n.921G>T) c.752G>T (p.Ser251Ile) c.584G>T (p.Ser195Ile) c.1640G>T (p.Ser547Ile) | gnomAD v4 |