Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| PGAM4 | ENSG00000226784 | ENST00000458128 | p.A252V | c.755C>T | Missense_Mutation | - |
| SP140 | ENSG00000079263 | ENST00000392045 | p.H421R | c.1262A>G | Missense_Mutation | - |
| SCFD1 | ENSG00000092108 | ENST00000458591 | p.S387R | c.1159A>C | Splice_Site | - |
| PKHD1L1 | ENSG00000205038 | ENST00000378402 | p.L2803P | c.8408T>C | Missense_Mutation | - |
| OR10G4 | ENSG00000254737 | ENST00000320891 | p.V255V | c.765T>G | Silent | - |
| ANAPC1 | ENSG00000153107 | ENST00000341068 | p.E72* | c.214G>T | Splice_Site | - |
| RB1 | ENSG00000139687 | ENST00000267163 | NA | NA | Splice_Site | - |
| ZFHX4 | ENSG00000091656 | ENST00000521891 | p.G1772G | c.5316C>A | Silent | - |
| LRRK2 | ENSG00000188906 | ENST00000298910 | p.R1558I | c.4673G>T | Missense_Mutation | - |
| C8orf31 | ENSG00000177335 | ENST00000395172 | p.L81P | c.242T>C | Missense_Mutation | - |