Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| GALNT16 | ENSG00000100626 | ENST00000337827 | p.S491C | c.1472C>G | Missense_Mutation | - |
| COL22A1 | ENSG00000169436 | ENST00000303045 | p.A1077A | c.3231C>T | Silent | - |
| RP1 | ENSG00000104237 | ENST00000220676 | p.K722E | c.2164A>G | Missense_Mutation | - |
| LRRK2 | ENSG00000188906 | ENST00000298910 | p.N202Y | c.604A>T | Missense_Mutation | - |
| MT-ND4 | ENSG00000198886 | ENST00000361381 | p.A131A | c.393T>C | Silent | - |
| STK11IP | ENSG00000144589 | ENST00000456909 | p.V1052M | c.3154G>A | Missense_Mutation | - |
| ZNF226 | ENSG00000167380 | ENST00000590089 | p.F428L | c.1284C>G | Missense_Mutation | - |
| GHITM | ENSG00000165678 | ENST00000372134 | p.V333I | c.997G>A | Missense_Mutation | - |
| IRF6 | ENSG00000117595 | ENST00000367021 | p.L436fs | c.1306_1307delCT | Frame_Shift_Del | - |
| IRF6 | ENSG00000117595 | ENST00000367021 | p.Q435fs | c.1303_1304delCA | Frame_Shift_Del | - |