Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| CEBPD | ENSG00000221869 | ENST00000408965 | p.P192fs | c.574_575insTG | Frame_Shift_Ins | - |
| TSPYL5 | ENSG00000180543 | ENST00000322128 | p.G146G | c.438G>C | Silent | - |
| EVC2 | ENSG00000173040 | ENST00000344408 | p.G165G | c.495A>C | Silent | - |
| FAM186A | ENSG00000185958 | ENST00000327337 | p.S1750P | c.5248T>C | Missense_Mutation | - |
| POLD2 | ENSG00000106628 | ENST00000406581 | p.R443C | c.1327C>T | Missense_Mutation | - |
| ADRM1 | ENSG00000130706 | ENST00000253003 | p.T187P | c.559A>C | Missense_Mutation | - |
| EPAS1 | ENSG00000116016 | ENST00000263734 | p.A615V | c.1844C>T | Missense_Mutation | - |
| SLC22A12 | ENSG00000197891 | ENST00000377567 | p.R241R | c.723G>C | Silent | - |
| DUSP7 | ENSG00000164086 | ENST00000495880 | p.P282fs | c.846delC | Frame_Shift_Del | - |
| STXBP4 | ENSG00000166263 | ENST00000376352 | p.L139fs | c.415_416insT | Frame_Shift_Ins | - |