| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.IVS9+3A>T (c.790+3A>T) |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CAT | His | spl+3 | Spl. | A>T |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| MutL transMLH1 transducer |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Impact on splicing | ||||||||||
| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| ACCgtaagt |
| ACCgttagt |
| -9.9 % | ||||||
| Sample ID | Patient status |
| 17_F05213_5870_--- | Relative |
| Symptom |
| Reference ID | Reference |
| 17 | Unpublished data |