| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.IVS6-1G>T (c.1077-1G>T) |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AGA | Arg | spl-1 | Spl. | G>T |
| 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 |
| aatttatttcatAT |
| -34 % | ||||||
| Sample ID | Patient status |
| 6_610277_201000450_S2952 | Relative |
| Symptom |
| Reference ID | Reference |
| 6 | Unpublished data |