| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2223_2235del | p.Leu742IlefsX26 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAC | Asn | del13c | Fs. | Stop at 767 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #07 | Ca2+ binding |
| 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 |
| AUS02WES F0030 I01 | Proband | NA | NA | AUSTRALIA |
| Phenotypic group | Disease |
| NA | NA |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 134 | - | Ad*s L. (Personal communication 2004-2006). |