| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.IVS2-46delC (c.367-46delC) |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GCT | Ala | spl-46 | Spl. | delC |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Mismatch binding |
| 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 (%) | |||||
| aagagtttg |
| agagtttgt |
| 75.2 % | ||||||
| Sample ID | Patient status |
| 2_DDM118142136215019468 | Relative |
| Symptom |
| Reference ID | Reference |
| 2 | Unpublished data |