No. | Chr | Position | Reference | Variant | EnsemblTranscriptID | EnsemblGeneID | Gene_Start | Gene_End | EnsemblProteinID | Gene | strand | Uniprot | cChange | pChange | Nature | dbSNP | Freq | EVS | phastCons | SIFT | Polyphen | HGMD | type | samples |
---|
1 | 4 | 980894 | G | A | ENST00000247933 | ENSG00000127415 | 980785 | 998316 | ENSP00000247933 | IDUA | 1 | IDUA_HUMAN | c.22G>A | p.A8T | non-syn | NA | - | - | - | DAMAGING | NA | - | het | 2 |
2 | 4 | 980894 | G | A | ENST00000453894 | ENSG00000127415 | 980785 | 998316 | ENSP00000396458 | IDUA | 1 | - | c.22G>A | p.A8T | non-syn | NA | - | - | - | DAMAGING | NA | - | het | 2 |
3 | 4 | 980894 | G | A | ENST00000502910 | ENSG00000127415 | 980785 | 998316 | ENSP00000422952 | IDUA | 1 | - | c.22G>A | p.A8T | non-syn | NA | - | - | - | DAMAGING | NA | - | het | 2 |
4 | 4 | 980894 | G | A | ENST00000504568 | ENSG00000127415 | 980785 | 998316 | ENSP00000424847 | IDUA | 1 | - | c.20G>A | p.R7H | non-syn | NA | - | - | - | DAMAGING | NA | - | het | 2 |
5 | 4 | 980894 | G | A | ENST00000506561 | ENSG00000127415 | 980785 | 998316 | - | IDUA | 1 | - | c.31G>A | p.A11T | non-syn | NA | - | - | - | DAMAGING | NA | - | het | 2 |
6 | 4 | 980894 | G | A | ENST00000508168 | ENSG00000127415 | 980785 | 998316 | - | IDUA | 1 | - | c.41G>A | p.R14H | non-syn | NA | - | - | - | DAMAGING | NA | - | het | 2 |
7 | 4 | 980894 | G | A | ENST00000514698 | ENSG00000127415 | 980785 | 998316 | - | IDUA | 1 | - | c.63G>A | p.A21A | syn | NA | - | - | - | DAMAGING | NA | - | het | 2 |
8 | 4 | 980896 | C | A | ENST00000247933 | ENSG00000127415 | 980785 | 998316 | ENSP00000247933 | IDUA | 1 | IDUA_HUMAN | c.24C>A | p.A8A | syn | rs11248061 | 0.4246 | A=1728/C=2640;A=659/C=1391;A=2387/C=4031 | - | - | - | - | het | 263 |
9 | 4 | 980896 | C | A | ENST00000247933 | ENSG00000127415 | 980785 | 998316 | ENSP00000247933 | IDUA | 1 | IDUA_HUMAN | c.24C>A | p.A8A | syn | rs11248061 | 0.4246 | A=1728/C=2640;A=659/C=1391;A=2387/C=4031 | - | - | - | - | hom | 122 |
10 | 4 | 980896 | C | A | ENST00000453894 | ENSG00000127415 | 980785 | 998316 | ENSP00000396458 | IDUA | 1 | - | c.24C>A | p.A8A | syn | rs11248061 | 0.4246 | A=1728/C=2640;A=659/C=1391;A=2387/C=4031 | - | - | - | - | het | 263 |
11 | 4 | 980896 | C | A | ENST00000453894 | ENSG00000127415 | 980785 | 998316 | ENSP00000396458 | IDUA | 1 | - | c.24C>A | p.A8A | syn | rs11248061 | 0.4246 | A=1728/C=2640;A=659/C=1391;A=2387/C=4031 | - | - | - | - | hom | 122 |
12 | 4 | 980896 | C | A | ENST00000502910 | ENSG00000127415 | 980785 | 998316 | ENSP00000422952 | IDUA | 1 | - | c.24C>A | p.A8A | syn | rs11248061 | 0.4246 | A=1728/C=2640;A=659/C=1391;A=2387/C=4031 | - | - | - | - | het | 263 |
13 | 4 | 980896 | C | A | ENST00000502910 | ENSG00000127415 | 980785 | 998316 | ENSP00000422952 | IDUA | 1 | - | c.24C>A | p.A8A | syn | rs11248061 | 0.4246 | A=1728/C=2640;A=659/C=1391;A=2387/C=4031 | - | - | - | - | hom | 122 |
14 | 4 | 980896 | C | A | ENST00000504568 | ENSG00000127415 | 980785 | 998316 | ENSP00000424847 | IDUA | 1 | - | c.22C>A | p.R8S | non-syn | rs11248061 | 0.4246 | A=1728/C=2640;A=659/C=1391;A=2387/C=4031 | - | - | - | - | het | 263 |
15 | 4 | 980896 | C | A | ENST00000504568 | ENSG00000127415 | 980785 | 998316 | ENSP00000424847 | IDUA | 1 | - | c.22C>A | p.R8S | non-syn | rs11248061 | 0.4246 | A=1728/C=2640;A=659/C=1391;A=2387/C=4031 | - | - | - | - | hom | 122 |
16 | 4 | 980896 | C | A | ENST00000506561 | ENSG00000127415 | 980785 | 998316 | - | IDUA | 1 | - | c.33C>A | p.A11A | syn | rs11248061 | 0.4246 | A=1728/C=2640;A=659/C=1391;A=2387/C=4031 | - | - | - | - | het | 263 |
17 | 4 | 980896 | C | A | ENST00000506561 | ENSG00000127415 | 980785 | 998316 | - | IDUA | 1 | - | c.33C>A | p.A11A | syn | rs11248061 | 0.4246 | A=1728/C=2640;A=659/C=1391;A=2387/C=4031 | - | - | - | - | hom | 122 |
18 | 4 | 980896 | C | A | ENST00000508168 | ENSG00000127415 | 980785 | 998316 | - | IDUA | 1 | - | c.43C>A | p.R15S | non-syn | rs11248061 | 0.4246 | A=1728/C=2640;A=659/C=1391;A=2387/C=4031 | - | - | - | - | het | 263 |
19 | 4 | 980896 | C | A | ENST00000508168 | ENSG00000127415 | 980785 | 998316 | - | IDUA | 1 | - | c.43C>A | p.R15S | non-syn | rs11248061 | 0.4246 | A=1728/C=2640;A=659/C=1391;A=2387/C=4031 | - | - | - | - | hom | 122 |
20 | 4 | 980896 | C | A | ENST00000514698 | ENSG00000127415 | 980785 | 998316 | - | IDUA | 1 | - | c.65C>A | p.P22Q | non-syn | rs11248061 | 0.4246 | A=1728/C=2640;A=659/C=1391;A=2387/C=4031 | - | - | - | - | het | 263 |