Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| SETBP1 | ENSG00000152217 | ENST00000282030 | p.G1114G | c.3342A>G | Silent | - |
| PKHD1L1 | ENSG00000205038 | ENST00000378402 | p.T1708T | c.5124G>A | Silent | - |
| PKHD1L1 | ENSG00000205038 | ENST00000378402 | p.G2187R | c.6559G>C | Missense_Mutation | - |
| SLC22A8 | ENSG00000149452 | ENST00000306494 | p.L433L | c.1299G>T | Silent | - |
| UBR2 | ENSG00000024048 | ENST00000372899 | p.L873L | c.2619C>T | Silent | - |
| CDH16 | ENSG00000166589 | ENST00000299752 | p.T782T | c.2346G>A | Silent | - |
| SCRIB | ENSG00000180900 | ENST00000356994 | p.L239L | c.717C>T | Silent | - |
| LRRK2 | ENSG00000188906 | ENST00000298910 | p.E1789E | c.5367A>G | Silent | - |
| LRRK2 | ENSG00000188906 | ENST00000298910 | p.L2145S | c.6434T>C | Missense_Mutation | - |
| EML3 | ENSG00000149499 | ENST00000394773 | p.R262R | c.786C>T | Silent | - |