| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.2002delC | p.His668ThrfsX2 |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CAC | His | del1a | Fs. | Stop at 669 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| ASEF binding domain ARM5 |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status |
| 7_8083811596E090433 | Relative |
| Symptom |
| Reference ID | Reference |
| 7 | Unpublished data |