| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.IVS5-2A>T (c.646-2A>T) |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGA | Arg | spl-2 | Spl. | A->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| 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 (%) | |||||
| gttttattttagCG |
| gttttatttttgCG |
| -36.2 % | ||||||
| Sample ID | Patient status |
| SO_-1072G00724G00724 | Relative |
| Symptom |
| Reference ID | Reference |
| 71 | Unpublished data |