Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| TIAM1 | ENSG00000156299 | ENST00000286827 | p.Y135C | c.404A>G | Missense_Mutation | - |
| PSD | ENSG00000059915 | ENST00000020673 | p.H342Y | c.1024C>T | Missense_Mutation | - |
| HCN1 | ENSG00000164588 | ENST00000303230 | p.R195S | c.585G>T | Missense_Mutation | - |
| FBXL19 | ENSG00000099364 | ENST00000380310 | p.T622M | c.1865C>T | Missense_Mutation | - |
| FAM186A | ENSG00000185958 | ENST00000327337 | p.P2324S | c.6970C>T | Missense_Mutation | - |
| MED12L | ENSG00000144893 | ENST00000474524 | p.Q2069* | c.6205C>T | Nonsense_Mutation | - |
| LIMD1 | ENSG00000144791 | ENST00000273317 | p.G559R | c.1675G>C | Missense_Mutation | - |
| PPP2R5A | ENSG00000066027 | ENST00000261461 | p.R133H | c.398G>A | Missense_Mutation | - |
| -- | ENSG00000196494 | ENST00000356026 | p.H355Y | c.1063C>T | Missense_Mutation | - |
| PIKFYVE | ENSG00000115020 | ENST00000264380 | p.R1546L | c.4637G>T | Missense_Mutation | - |