Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| SCFD1 | ENSG00000092108 | ENST00000458591 | p.D609Y | c.1825G>T | Missense_Mutation | - |
| MUC12 | ENSG00000205277 | ENST00000379442 | p.G3378fs | c.10132delG | Frame_Shift_Del | - |
| -- | ENSG00000116386 | ENST00000331565 | p.S249L | c.746C>T | Missense_Mutation | - |
| -- | false | Missense_Mutation | - | |||
| RBM25 | ENSG00000119707 | ENST00000261973 | p.K429fs | c.1284_1285insA | Frame_Shift_Ins | - |
| PRKAR1A | ENSG00000108946 | ENST00000588188 | p.G298G | c.894G>C | Silent | - |
| ATP11A | ENSG00000068650 | ENST00000487903 | p.D1090N | c.3268G>A | Missense_Mutation | - |
| ORM2 | ENSG00000228278 | ENST00000431067 | Splice_Site | - | ||
| PXDNL | ENSG00000147485 | ENST00000356297 | p.E211K | c.631G>A | Missense_Mutation | - |
| INPP4A | ENSG00000040933 | ENST00000409016 | p.R754* | c.2260C>T | Nonsense_Mutation | - |