Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| GAK | ENSG00000178950 | ENST00000314167 | p.A892V | c.2675C>T | Missense_Mutation | - |
| FBXL18 | ENSG00000155034 | ENST00000382368 | p.P713P | c.2139G>A | Silent | - |
| MAGEB6 | ENSG00000176746 | ENST00000379034 | p.P384L | c.1151C>T | Missense_Mutation | - |
| RSL1D1 | ENSG00000171490 | ENST00000571133 | p.E441E | c.1323A>G | Silent | - |
| DYSF | ENSG00000135636 | ENST00000258104 | p.D1237D | c.3711C>T | Silent | - |
| ARHGAP44 | ENSG00000006740 | ENST00000379672 | p.P641P | c.1923T>G | Silent | - |
| TCTN1 | ENSG00000204852 | ENST00000551590 | p.A205T | c.613G>A | Missense_Mutation | - |
| ARID2 | ENSG00000189079 | ENST00000334344 | p.E420* | c.1258G>T | Nonsense_Mutation | - |
| ITGB1 | ENSG00000150093 | ENST00000396033 | p.K346E | c.1036A>G | Missense_Mutation | - |
| TMEM44 | ENSG00000145014 | ENST00000392432 | p.N118I | c.353A>T | Missense_Mutation | - |