| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.4011delT | p.Val1338TyrfsX75 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GCT | Ala | del1c | Fs. | Stop at 1412 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #18 |
| At the mRNA level | On restriction map |
| No mechanism suspected | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| UKD07CAR F0002 I01 | Proband | NA | NA | U.K. |
| Phenotypic group | Disease |
| NA | NA |
| Symptom |
| Clinical data will be implemented as soon as possible |
| Reference ID | PubMed ID | Reference |
| 135 | - | Davies S. (Personal communication). |