| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.3944C>A | p.Ser1315X |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TCA | Ser | TAA | Stop | C->A | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Yes, coding strand | No |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status |
| 7_-6311ILP0611114E060917 | Relative |
| Symptom |
| Reference ID | Reference |
| 7 | Unpublished data |