| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.IVS5+2T>A (c.942+2T>A) |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CAG | Gln | spl+2 | Spl. | T>A |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EXO1 stabilization |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Impact on splicing | ||||||||||
| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| CAGgtaaaa |
| CAGgaaaaa |
| -31.4 % | ||||||
| Sample ID | Patient status |
| 19_13426_13426-001_13426- | Relative |
| Symptom |
| Reference ID | Reference |
| 19 | Unpublished data |