Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| RHOC | ENSG00000155366 | ENST00000285735 | p.D124fs | c.371_372delAC | Frame_Shift_Del | - |
| MMP2 | ENSG00000087245 | ENST00000219070 | p.A571T | c.1711G>A | Missense_Mutation | - |
| SCFD1 | ENSG00000092108 | ENST00000458591 | p.I413V | c.1237A>G | Missense_Mutation | - |
| VPS13A | ENSG00000197969 | ENST00000360280 | p.R13G | c.37C>G | Missense_Mutation | - |
| LRRC18 | ENSG00000165383 | ENST00000374160 | p.N177N | c.531C>T | Silent | - |
| DIPK1B | ENSG00000165716 | ENST00000371692 | p.RQCK355fs | c.1064_1074delGGCAGTGCAAG | Frame_Shift_Del | - |
| LRRK2 | ENSG00000188906 | ENST00000298910 | p.Q536K | c.1606C>A | Missense_Mutation | - |
| LRRK2 | ENSG00000188906 | ENST00000298910 | p.E1901D | c.5703A>C | Missense_Mutation | - |
| PDP2 | ENSG00000172840 | ENST00000311765 | p.S128F | c.383C>T | Missense_Mutation | - |
| PDP2 | ENSG00000172840 | ENST00000311765 | p.C129R | c.385T>C | Missense_Mutation | - |