Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| EXO1 | ENSG00000174371 | ENST00000366548 | p.N708D | c.2122A>G | Missense_Mutation | - |
| CAPN15 | ENSG00000103326 | ENST00000219611 | p.A707S | c.2119G>T | Missense_Mutation | - |
| CIT | ENSG00000122966 | ENST00000261833 | p.L949V | c.2845C>G | Missense_Mutation | - |
| GUCY1A1 | ENSG00000164116 | ENST00000296518 | p.F513F | c.1539C>T | Silent | - |
| SCAF4 | ENSG00000156304 | ENST00000286835 | p.N120fs | c.359_360insA | Frame_Shift_Ins | - |
| EXOC8 | ENSG00000116903 | ENST00000360394 | p.H461L | c.1382A>T | Missense_Mutation | - |
| AP1B1 | ENSG00000100280 | ENST00000405198 | p.D366D | c.1098T>C | Silent | - |
| -- | ENSG00000167790 | ENST00000301480 | p.I423fs | c.1268_1269delTA | Frame_Shift_Del | - |
| RBM25 | ENSG00000119707 | ENST00000261973 | p.K429fs | c.1284_1285insA | Frame_Shift_Ins | - |
| EGF | ENSG00000138798 | ENST00000265171 | NA | NA | Splice_Site | - |