| Typicality: | 0.563 |
| Saliency: | 0.581 |
| in the patients | 11 | location |
| in the proband | 10 | location |
| in heterozygous | 6 | other |
| mutation → be → homozygous | 39 |
| mutation → be found in → homozygous state | 8 |
| mutation → be found in → homozygosity | 3 |
| mutation → appear → homozygous | 3 |
| negative | neutral | positive |
| 0.255 | 0.708 | 0.037 |
| Raw frequency | 53 |
| Normalized frequency | 0.581 |
| Modifier score | 0.700 |
| Perplexity | 106.623 |