| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.IVS6-2A>C (c.1077-2A>C) |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AGA | Arg | spl-2 | Spl. | A>C |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EXO1 stabilization |
| 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 (%) | |||||
| aatttatttcagAT |
| aatttatttccgAT |
| -34 % | ||||||
| Sample ID | Patient status |
| 5_2006291_P0031215_AAB312 | Relative |
| Symptom |
| Reference ID | Reference |
| 5 | Unpublished data |