| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.1387_1405dup | p.Leu469ArgfsX5 |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CTT | Leu | ins19b | Fs. | Stop at 473 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Clamp |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status |
| 5_2010357_P0043214_AAE333 | Relative |
| Symptom |
| Reference ID | Reference |
| 5 | Unpublished data |