Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| OTX2 | ENSG00000165588 | ENST00000555006 | p.Q187P | c.560A>C | Missense_Mutation | - |
| DLC1 | ENSG00000164741 | ENST00000276297 | p.R349S | c.1047G>T | Missense_Mutation | - |
| DCDC1 | ENSG00000170959 | ENST00000597505 | p.Q1745K | c.5233C>A | Missense_Mutation | - |
| APOL3 | ENSG00000128284 | ENST00000349314 | p.E179E | c.537G>A | Silent | - |
| MYH1 | ENSG00000109061 | ENST00000226207 | p.R1526R | c.4578C>T | Silent | - |
| PPFIBP2 | ENSG00000166387 | ENST00000530181 | p.A326S | c.976G>T | Missense_Mutation | - |
| NCOA3 | ENSG00000124151 | ENST00000371998 | p.S901R | c.2701A>C | Missense_Mutation | - |
| SNAPC1 | ENSG00000023608 | ENST00000216294 | p.D197H | c.589G>C | Missense_Mutation | - |
| CFAP77 | ENSG00000188523 | ENST00000393215 | p.T111S | c.331A>T | Missense_Mutation | - |
| ADGRL1 | ENSG00000072071 | ENST00000340736 | p.G563D | c.1688G>A | Missense_Mutation | - |