| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.IVS10-2del3 (c.1409-2del3) |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGG | Gly | spl-2 | Spl. | del3 |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| ASEF binding domain ARM1 |
| 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 (%) | |||||
| tttttaaattagGG |
| tttttaaattGGGAC |
| -36 % | ||||||
| Sample ID | Patient status |
| SO_-4218G06288G06288 | Relative |
| Symptom |
| Reference ID | Reference |
| 71 | Unpublished data |