Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| CRABP2 | ENSG00000143320 | ENST00000368222 | p.Y135Y | c.405C>T | Silent | - |
| ARL16 | ENSG00000214087 | ENST00000397498 | p.V118M | c.352G>A | Missense_Mutation | - |
| IL1RAPL1 | ENSG00000169306 | ENST00000378993 | p.F85V | c.253T>G | Missense_Mutation | - |
| VPS13A | ENSG00000197969 | ENST00000360280 | p.M1319R | c.3956T>G | Missense_Mutation | - |
| PIKFYVE | ENSG00000115020 | ENST00000264380 | p.S274G | c.820A>G | Splice_Site | - |
| TERB1 | ENSG00000249961 | ENST00000558713 | p.D278G | c.833A>G | Missense_Mutation | - |
| CFAP126 | ENSG00000188931 | ENST00000367974 | p.V135V | c.405A>T | Silent | - |
| DKKL1 | ENSG00000104901 | ENST00000221498 | p.R194* | c.580C>T | Nonsense_Mutation | - |
| BFAR | ENSG00000103429 | ENST00000261658 | p.E346A | c.1037A>C | Missense_Mutation | - |
| RB1 | ENSG00000139687 | ENST00000267163 | p.K652fs | c.1953_1954insA | Frame_Shift_Ins | - |