| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.IVS5+19del11 (c.942+19del11) |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CAG | Gln | spl+19 | Spl. | del11 |
| 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 (%) | |||||
| aaaaaaaaa |
| agggttaaa |
| 72.8 % | ||||||
| Sample ID | Patient status |
| SO_-2209---G01052 | Relative |
| Symptom |
| Reference ID | Reference |
| 71 | Unpublished data |