Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| EXOC3L1 | ENSG00000179044 | ENST00000314586 | p.H310Y | c.928C>T | Missense_Mutation | - |
| VPS13A | ENSG00000197969 | ENST00000360280 | p.T1844T | c.5532A>C | Silent | - |
| LRRC37A2 | ENSG00000238083 | ENST00000576629 | p.I1548T | c.4643T>C | Missense_Mutation | - |
| ABI2 | ENSG00000138443 | ENST00000422511 | p.R219R | c.657T>C | Silent | - |
| NME2 | ENSG00000243678 | ENST00000393193 | p.E267E | c.801A>G | Silent | - |
| THOC3 | ENSG00000051596 | ENST00000265097 | p.T155S | c.463A>T | Missense_Mutation | - |
| AMOTL2 | ENSG00000114019 | ENST00000514516 | p.G139V | c.416G>T | Missense_Mutation | - |
| CNTD1 | ENSG00000176563 | ENST00000588527 | p.R17K | c.50G>A | Missense_Mutation | - |
| LRRK2 | ENSG00000188906 | ENST00000298910 | p.S1345I | c.4034G>T | Missense_Mutation | - |
| KAT2A | ENSG00000108773 | ENST00000225916 | p.G73A | c.218G>C | Missense_Mutation | - |