| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.390_391delGT | p.Gln130HisfsX2 |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CAG | Gln | del2c | Fs. | Stop at 131 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Connector |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status |
| 5_2008462_20084742_AAC930 | Relative |
| Symptom |
| Reference ID | Reference |
| 5 | Unpublished data |