Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| GAK | ENSG00000178950 | ENST00000314167 | p.P480P | c.1440A>C | Silent | - |
| KRT16 | ENSG00000186832 | ENST00000301653 | p.A199A | c.597C>G | Silent | - |
| DLC1 | ENSG00000164741 | ENST00000276297 | p.E45E | c.135A>G | Silent | - |
| C9orf24 | ENSG00000164972 | ENST00000297623 | p.R153R | c.457C>A | Silent | - |
| TOPAZ1 | ENSG00000173769 | ENST00000309765 | p.M1308I | c.3924G>T | Missense_Mutation | - |
| AMOTL2 | ENSG00000114019 | ENST00000422605 | p.E103G | c.308A>G | Missense_Mutation | - |
| LRRK2 | ENSG00000188906 | ENST00000298910 | p.H61H | c.183T>C | Silent | - |
| DYSF | ENSG00000135636 | ENST00000258104 | p.L960F | c.2878C>T | Missense_Mutation | - |
| NKTR | ENSG00000114857 | ENST00000232978 | p.S935S | c.2805G>A | Silent | - |
| ADCY4 | ENSG00000129467 | ENST00000310677 | p.P643P | c.1929C>T | Silent | - |