Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| CAMSAP3 | ENSG00000076826 | ENST00000446248 | p.E725D | c.2175A>T | Missense_Mutation | - |
| MYO1C | ENSG00000197879 | ENST00000575158 | p.L836L | c.2506C>T | Splice_Site | - |
| ZNF385B | ENSG00000144331 | ENST00000410066 | p.T252I | c.755C>T | Missense_Mutation | - |
| MUC20 | ENSG00000176945 | ENST00000436408 | p.S24F | c.71C>T | Missense_Mutation | - |
| LRRK2 | ENSG00000188906 | ENST00000298910 | p.N1163I | c.3488A>T | Missense_Mutation | - |
| ADGRL1 | ENSG00000072071 | ENST00000340736 | p.A632T | c.1894G>A | Missense_Mutation | - |
| FAM193A | ENSG00000125386 | ENST00000502458 | p.A45T | c.133G>A | Missense_Mutation | - |
| WDR87 | ENSG00000171804 | ENST00000303868 | p.C249S | c.746G>C | Missense_Mutation | - |
| -- | ENSG00000116386 | ENST00000331565 | p.K34K | c.102G>A | Silent | - |
| RDH8 | ENSG00000080511 | ENST00000591589 | p.L41H | c.122T>A | Missense_Mutation | - |