| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.IVS12-42delAGAA (c.2006-42delAGAA) |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGC | Gly | spl-42 | Spl. | delAGAA | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| ATP binding |
| 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 (%) | |||||
| tagtagcagaaagaa |
| tagtagcagaagttt |
| 36.4 % | ||||||
| Sample ID | Patient status |
| 2_02-DDM4664_23588_23588 | Relative |
| Symptom |
| Reference ID | Reference |
| 2 | Unpublished data |