| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.IVS12+2del (c.2005+2del) |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGC | Gly | spl+2 | Spl. | del |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| ATP 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 (%) | |||||
| CTGgtaaaa |
| CTGgtaaaa |
| 0 % | ||||||
| Sample ID | Patient status |
| 8_42639_80316_08-304121EG | Relative |
| Symptom |
| Reference ID | Reference |
| 8 | Unpublished data |