| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.IVS4-2A>C (c.793-2A>C) |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GTT | Val | spl-2 | Spl. | A>C |
| 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 (%) | |||||
| tcttaattttagGT |
| tcttaattttcgGT |
| -34.5 % | ||||||
| Sample ID | Patient status |
| 37_L01.04_906_3133 | Relative |
| Symptom |
| Reference ID | Reference |
| 37 | Unpublished data |