| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.IVS2+1G>A (c.366+1G>A) |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAG | Lys | spl+1 | Spl. | G>A | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Mismatch 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 (%) | |||||
| AAGgtaatt |
| AAGataatt |
| -30.9 % | ||||||
| Sample ID | Patient status |
| 8_439117672108-392311EGS | Proband |
| Symptom |
| Reference ID | Reference |
| 41 | Unpublished data |