| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6025delG | p.Ala2009ProfsX32 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GCC | Ala | del1a | Fs. | Stop at 2040 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| FERM 2 |
| Mutation(s) on the other allele: c.IVS13-8C>G (c.1555-8C>G) |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Geographic origin |
| FR0138609240 | Proband | Female | FRANCE |
| Phenotypic group | Disease |
| TypeI | Usher |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 25 | 16679490 | Roux - Claustres 2006 |