Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| TBC1D10C | ENSG00000175463 | ENST00000542590 | p.A321V | c.962C>T | Missense_Mutation | - |
| OXNAD1 | ENSG00000154814 | ENST00000285083 | p.AK216fs | c.647_648insA | Frame_Shift_Ins | - |
| PDILT | ENSG00000169340 | ENST00000302451 | p.K494E | c.1480A>G | Missense_Mutation | - |
| -- | ENSG00000181039 | ENST00000323397 | p.S376L | c.1127C>T | Missense_Mutation | - |
| PKHD1L1 | ENSG00000205038 | ENST00000378402 | p.V3241fs | c.9723delC | Frame_Shift_Del | - |
| -- | ENST00000404233 | p.V432M | c.1294G>A | Missense_Mutation | - | |
| ZNF385B | ENSG00000144331 | ENST00000410066 | p.I459I | c.1377C>A | Silent | - |
| CIT | ENSG00000122966 | ENST00000261833 | p.E591E | c.1773G>A | Silent | - |
| C11orf24 | ENSG00000171067 | ENST00000304271 | p.A116A | c.348G>A | Silent | - |
| MUC12 | ENSG00000205277 | ENST00000379442 | p.S4424Y | c.13271C>A | Missense_Mutation | - |