| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.IVS13-1G>C (c.1744-1G>C) |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAA | Glu | spl-1 | Spl. | G>C |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| ASEF binding domain ARM3 |
| 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 (%) | |||||
| gtttcttactagGA |
| gtttcttactacGA |
| -34.6 % | ||||||
| Sample ID | Patient status |
| 37_P08.01673364032 | Relative |
| Symptom |
| Reference ID | Reference |
| 37 | Unpublished data |