| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.IVS3-1G>C (c.646-1G>C) |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ATA | Ile | spl-1 | Spl. | G>C |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Connector |
| 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 (%) | |||||
| ctttcaaaatagAT |
| ctttcaaaatacAT |
| -37.2 % | ||||||
| Sample ID | Patient status |
| 19_11219_11219-001_11219- | Relative |
| Symptom |
| Reference ID | Reference |
| 19 | Unpublished data |