| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.IVS2+1G>T (c.366+1G>T) |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAG | Lys | spl+1 | Spl. | G>T |
| 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 |
| AAGttaatt |
| -30.9 % | ||||||
| Sample ID | Patient status |
| 8_43911_76721_08-392311EG | Relative |
| Symptom |
| Reference ID | Reference |
| 8 | Unpublished data |