| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.193A>T | p.Lys65X |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAG | Lys | TAG | Stop | A->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Mismatch binding | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status |
| 6_611355_B00069847_S 3896 | Relative |
| Symptom |
| Reference ID | Reference |
| 6 | Unpublished data |