| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1035insT | p.Lys345AsnfsX24 | Homozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAA | Lys | ins1c | Fs. | Stop at 368 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| V.7 | Proband | ISRAEL |
| Phenotypic group | Disease |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 5 | 18446857 | Falik-Zaccai TC, Laskar M, Kfir N, Nasser W, Slor H, Khayat M. Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6. Am J Med Genet A 2008;146A(11):1423-9. |