Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| HCN1 | ENSG00000164588 | ENST00000303230 | p.G70G | c.210C>T | Silent | - |
| EXOC3L1 | ENSG00000179044 | ENST00000314586 | p.A379V | c.1136C>T | Missense_Mutation | - |
| SP140 | ENSG00000079263 | ENST00000392045 | p.P178L | c.533C>T | Missense_Mutation | - |
| MT-ND4 | ENSG00000198886 | ENST00000361381 | p.L11L | c.31T>C | Silent | - |
| ZNF845 | ENSG00000213799 | ENST00000595091 | p.K934N | c.2802G>C | Missense_Mutation | - |
| PROZ | ENSG00000126231 | ENST00000342783 | p.R246R | c.738G>A | Silent | - |
| SLC10A5 | ENSG00000253598 | ENST00000518568 | p.E33E | c.99A>G | Silent | - |
| PYGO2 | ENSG00000163348 | ENST00000368457 | p.P155P | c.465A>C | Silent | - |
| PYGO2 | ENSG00000163348 | ENST00000368457 | p.Y154S | c.461A>C | Missense_Mutation | - |
| MYH9 | ENSG00000100345 | ENST00000216181 | p.L1766P | c.5297T>C | Missense_Mutation | - |