| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42543409T>A | CA399602334 | NAGLU | c.1403T>A (p.Val468Glu) c.741T>A (n.741T>A) c.442T>A c.572T>A (p.Val191Glu) c.404T>A (p.Val135Glu) c.1460T>A (p.Val487Glu) | |
| 17 | g.42543409T>C | CA399602331 | NAGLU | c.1403T>C (p.Val468Ala) c.741T>C (n.741T>C) c.442T>C c.572T>C (p.Val191Ala) c.404T>C (p.Val135Ala) c.1460T>C (p.Val487Ala) | |
| 17 | g.42543409T>G | CA399602329 | NAGLU | c.1403T>G (p.Val468Gly) c.741T>G (n.741T>G) c.442T>G c.572T>G (p.Val191Gly) c.404T>G (p.Val135Gly) c.1460T>G (p.Val487Gly) | |
| 17 | g.42543410G>A | CA500216930 | NAGLU | c.1404G>A (p.Val468=) c.742G>A (n.742G>A) c.443G>A c.573G>A (p.Val191=) c.405G>A (p.Val135=) c.1461G>A (p.Val487=) | |
| 17 | g.42543410G>C | CA500216931 | NAGLU | c.1404G>C (p.Val468=) c.742G>C (n.742G>C) c.443G>C c.573G>C (p.Val191=) c.405G>C (p.Val135=) c.1461G>C (p.Val487=) | |
| 17 | g.42543410G>T | CA500216929 | NAGLU | c.1404G>T (p.Val468=) c.742G>T (n.742G>T) c.443G>T c.573G>T (p.Val191=) c.405G>T (p.Val135=) c.1461G>T (p.Val487=) | gnomAD v4 |
| 17 | g.42543411C>A | CA399602337 | NAGLU | c.1405C>A (p.Pro469Thr) c.743C>A (n.743C>A) c.444C>A c.574C>A (p.Pro192Thr) c.406C>A (p.Pro136Thr) c.1462C>A (p.Pro488Thr) | gnomAD v4 |
| 17 | g.42543411C= | CA2260530257 | NAGLU | c.1405C= (p.Pro469=) c.743C= (n.743C=) c.444C= c.574C= (p.Pro192=) c.406C= (p.Pro136=) c.1462C= (p.Pro488=) | |
| 17 | g.42543411C>G | CA290780463 | NAGLU | c.1405C>G (p.Pro469Ala) c.743C>G (n.743C>G) c.444C>G c.574C>G (p.Pro192Ala) c.406C>G (p.Pro136Ala) c.1462C>G (p.Pro488Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42543411C>T | CA399602341 | NAGLU | c.1405C>T (p.Pro469Ser) c.743C>T (n.743C>T) c.444C>T c.574C>T (p.Pro192Ser) c.406C>T (p.Pro136Ser) c.1462C>T (p.Pro488Ser) | gnomAD v4 |
| 17 | g.42543412C>A | CA399602346 | NAGLU | c.1406C>A (p.Pro469Gln) c.744C>A (n.744C>A) c.445C>A c.575C>A (p.Pro192Gln) c.407C>A (p.Pro136Gln) c.1463C>A (p.Pro488Gln) | |
| 17 | g.42543412C= | CA2260530258 | NAGLU | c.1406C= (p.Pro469=) c.744C= (n.744C=) c.445C= c.575C= (p.Pro192=) c.407C= (p.Pro136=) c.1463C= (p.Pro488=) | |
| 17 | g.42543412C>G | CA399602348 | NAGLU | c.1406C>G (p.Pro469Arg) c.744C>G (n.744C>G) c.445C>G c.575C>G (p.Pro192Arg) c.407C>G (p.Pro136Arg) c.1463C>G (p.Pro488Arg) | |
| 17 | g.42543412C>T | CA399602351 | NAGLU | c.1406C>T (p.Pro469Leu) c.744C>T (n.744C>T) c.445C>T c.575C>T (p.Pro192Leu) c.407C>T (p.Pro136Leu) c.1463C>T (p.Pro488Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543413A= | CA2260530259 | NAGLU | c.1407A= (p.Pro469=) c.745A= (n.745A=) c.446A= c.576A= (p.Pro192=) c.408A= (p.Pro136=) c.1464A= (p.Pro488=) | |
| 17 | g.42543413A>C | CA500216933 | NAGLU | c.1407A>C (p.Pro469=) c.745A>C (n.745A>C) c.446A>C c.576A>C (p.Pro192=) c.408A>C (p.Pro136=) c.1464A>C (p.Pro488=) | |
| 17 | g.42543413A>G | CA500216932 | NAGLU | c.1407A>G (p.Pro469=) c.745A>G (n.745A>G) c.446A>G c.576A>G (p.Pro192=) c.408A>G (p.Pro136=) c.1464A>G (p.Pro488=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42543413A>T | CA500216934 | NAGLU | c.1407A>T (p.Pro469=) c.745A>T (n.745A>T) c.446A>T c.576A>T (p.Pro192=) c.408A>T (p.Pro136=) c.1464A>T (p.Pro488=) | gnomAD v4 |
| 17 | g.42543414G>A | CA399602357 | NAGLU | c.1408G>A (p.Asp470Asn) c.746G>A (n.746G>A) c.447G>A c.577G>A (p.Asp193Asn) c.409G>A (p.Asp137Asn) c.1465G>A (p.Asp489Asn) | |
| 17 | g.42543414G>C | CA399602360 | NAGLU | c.1408G>C (p.Asp470His) c.746G>C (n.746G>C) c.447G>C c.577G>C (p.Asp193His) c.409G>C (p.Asp137His) c.1465G>C (p.Asp489His) | |
| 17 | g.42543414G>T | CA399602361 | NAGLU | c.1408G>T (p.Asp470Tyr) c.746G>T (n.746G>T) c.447G>T c.577G>T (p.Asp193Tyr) c.409G>T (p.Asp137Tyr) c.1465G>T (p.Asp489Tyr) | gnomAD v4 |
| 17 | g.42543415A= | CA2260530260 | NAGLU | c.1409A= (p.Asp470=) c.747A= (n.747A=) c.448A= c.578A= (p.Asp193=) c.410A= (p.Asp137=) c.1466A= (p.Asp489=) | |
| 17 | g.42543415A>C | CA399602362 | NAGLU | c.1409A>C (p.Asp470Ala) c.747A>C (n.747A>C) c.448A>C c.578A>C (p.Asp193Ala) c.410A>C (p.Asp137Ala) c.1466A>C (p.Asp489Ala) | |
| 17 | g.42543415A>G | CA399602363 | NAGLU | c.1409A>G (p.Asp470Gly) c.747A>G (n.747A>G) c.448A>G c.578A>G (p.Asp193Gly) c.410A>G (p.Asp137Gly) c.1466A>G (p.Asp489Gly) | dbSNP |
| 17 | g.42543415A>T | CA399602364 | NAGLU | c.1409A>T (p.Asp470Val) c.747A>T (n.747A>T) c.448A>T c.578A>T (p.Asp193Val) c.410A>T (p.Asp137Val) c.1466A>T (p.Asp489Val) | ClinVar |
| 17 | g.42543416T>A | CA399602368 | NAGLU | c.1410T>A (p.Asp470Glu) c.748T>A (n.748T>A) c.449T>A c.579T>A (p.Asp193Glu) c.411T>A (p.Asp137Glu) c.1467T>A (p.Asp489Glu) | |
| 17 | g.42543416T>C | CA500216935 | NAGLU | c.1410T>C (p.Asp470=) c.748T>C (n.748T>C) c.449T>C c.579T>C (p.Asp193=) c.411T>C (p.Asp137=) c.1467T>C (p.Asp489=) | gnomAD v4 |
| 17 | g.42543416T>G | CA399602366 | NAGLU | c.1410T>G (p.Asp470Glu) c.748T>G (n.748T>G) c.449T>G c.579T>G (p.Asp193Glu) c.411T>G (p.Asp137Glu) c.1467T>G (p.Asp489Glu) | |
| 17 | g.42543417T>A | CA399602373 | NAGLU | c.1411T>A (p.Leu471Met) c.749T>A (n.749T>A) c.450T>A c.580T>A (p.Leu194Met) c.412T>A (p.Leu138Met) c.1468T>A (p.Leu490Met) | |
| 17 | g.42543417T>C | CA500216936 | NAGLU | c.1411T>C (p.Leu471=) c.749T>C (n.749T>C) c.450T>C c.580T>C (p.Leu194=) c.412T>C (p.Leu138=) c.1468T>C (p.Leu490=) | |
| 17 | g.42543417T>G | CA399602375 | NAGLU | c.1411T>G (p.Leu471Val) c.749T>G (n.749T>G) c.450T>G c.580T>G (p.Leu194Val) c.412T>G (p.Leu138Val) c.1468T>G (p.Leu490Val) | |
| 17 | g.42543418T>A | CA399602378 | NAGLU | c.1412T>A (p.Leu471Ter) c.750T>A (n.750T>A) c.451T>A c.581T>A (p.Leu194Ter) c.413T>A (p.Leu138Ter) c.1469T>A (p.Leu490Ter) | gnomAD v4 |
| 17 | g.42543418T>C | CA399602381 | NAGLU | c.1412T>C (p.Leu471Ser) c.750T>C (n.750T>C) c.451T>C c.581T>C (p.Leu194Ser) c.413T>C (p.Leu138Ser) c.1469T>C (p.Leu490Ser) | |
| 17 | g.42543418T>G | CA399602383 | NAGLU | c.1412T>G (p.Leu471Trp) c.750T>G (n.750T>G) c.451T>G c.581T>G (p.Leu194Trp) c.413T>G (p.Leu138Trp) c.1469T>G (p.Leu490Trp) | |
| 17 | g.42543419G>A | CA500216937 | NAGLU | c.1413G>A (p.Leu471=) c.751G>A (n.751G>A) c.452G>A c.582G>A (p.Leu194=) c.414G>A (p.Leu138=) c.1470G>A (p.Leu490=) | |
| 17 | g.42543419G>C | CA399602385 | NAGLU | c.1413G>C (p.Leu471Phe) c.751G>C (n.751G>C) c.452G>C c.582G>C (p.Leu194Phe) c.414G>C (p.Leu138Phe) c.1470G>C (p.Leu490Phe) | |
| 17 | g.42543419G>T | CA399602388 | NAGLU | c.1413G>T (p.Leu471Phe) c.751G>T (n.751G>T) c.452G>T c.582G>T (p.Leu194Phe) c.414G>T (p.Leu138Phe) c.1470G>T (p.Leu490Phe) | gnomAD v4 |
| 17 | g.42543420G>A | CA399602392 | NAGLU | c.1414G>A (p.Ala472Thr) c.752G>A (n.752G>A) c.453G>A c.583G>A (p.Ala195Thr) c.415G>A (p.Ala139Thr) c.1471G>A (p.Ala491Thr) | gnomAD v4 |
| 17 | g.42543420G>C | CA399602394 | NAGLU | c.1414G>C (p.Ala472Pro) c.752G>C (n.752G>C) c.453G>C c.583G>C (p.Ala195Pro) c.415G>C (p.Ala139Pro) c.1471G>C (p.Ala491Pro) | |
| 17 | g.42543420G>T | CA399602398 | NAGLU | c.1414G>T (p.Ala472Ser) c.752G>T (n.752G>T) c.453G>T c.583G>T (p.Ala195Ser) c.415G>T (p.Ala139Ser) c.1471G>T (p.Ala491Ser) | gnomAD v4 |
| 17 | g.42543421C>A | CA399602403 | NAGLU | c.1415C>A (p.Ala472Glu) c.753C>A (n.753C>A) c.454C>A c.584C>A (p.Ala195Glu) c.416C>A (p.Ala139Glu) c.1472C>A (p.Ala491Glu) | gnomAD v4 |
| 17 | g.42543421C= | CA2260530261 | NAGLU | c.1415C= (p.Ala472=) c.753C= (n.753C=) c.454C= c.584C= (p.Ala195=) c.416C= (p.Ala139=) c.1472C= (p.Ala491=) | |
| 17 | g.42543421C>G | CA399602405 | NAGLU | c.1415C>G (p.Ala472Gly) c.753C>G (n.753C>G) c.454C>G c.584C>G (p.Ala195Gly) c.416C>G (p.Ala139Gly) c.1472C>G (p.Ala491Gly) | gnomAD v4 |
| 17 | g.42543421C>T | CA290780471 | NAGLU | c.1415C>T (p.Ala472Val) c.753C>T (n.753C>T) c.454C>T c.584C>T (p.Ala195Val) c.416C>T (p.Ala139Val) c.1472C>T (p.Ala491Val) | dbSNP gnomAD v4 |
| 17 | g.42543422A= | CA2260530262 | NAGLU | c.1416A= (p.Ala472=) c.754A= (n.754A=) c.455A= c.585A= (p.Ala195=) c.417A= (p.Ala139=) c.1473A= (p.Ala491=) | |
| 17 | g.42543422A>C | CA500216939 | NAGLU | c.1416A>C (p.Ala472=) c.754A>C (n.754A>C) c.455A>C c.585A>C (p.Ala195=) c.417A>C (p.Ala139=) c.1473A>C (p.Ala491=) | |
| 17 | g.42543422A>G | CA500216940 | NAGLU | c.1416A>G (p.Ala472=) c.754A>G (n.754A>G) c.455A>G c.585A>G (p.Ala195=) c.417A>G (p.Ala139=) c.1473A>G (p.Ala491=) | dbSNP |
| 17 | g.42543422A>T | CA500216938 | NAGLU | c.1416A>T (p.Ala472=) c.754A>T (n.754A>T) c.455A>T c.585A>T (p.Ala195=) c.417A>T (p.Ala139=) c.1473A>T (p.Ala491=) | |
| 17 | g.42543423G>A | CA399602414 | NAGLU | c.1417G>A (p.Ala473Thr) c.755G>A (n.755G>A) c.456G>A c.586G>A (p.Ala196Thr) c.418G>A (p.Ala140Thr) c.1474G>A (p.Ala492Thr) | gnomAD v4 |
| 17 | g.42543423G>C | CA399602418 | NAGLU | c.1417G>C (p.Ala473Pro) c.755G>C (n.755G>C) c.456G>C c.586G>C (p.Ala196Pro) c.418G>C (p.Ala140Pro) c.1474G>C (p.Ala492Pro) |