Table 3.
Number of variants annotated in the different samples (focused on the 109 genes considered), and the corresponding clinical relevance of filtered polymorphisms evaluated among different databases (MutationTaster and ClinVar).
| Variants | Filtered a variants | MutationTaster | ClinVar | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Benign | VUS b | Pathogenic | Unknown | Benign | VUS b | Pathogenic | Unknown | |||
| DBS-1 | 343 | 13 | 0 | 4 | 1 | 8 | 5 | 2 | 2 | 4 |
| DBS-2 | 318 | 22 | 1 | 11 | 1 | 9 | 8 | 2 | 1 | 11 |
| DBS-3 | 347 | 12 | 0 | 6 | 0 | 6 | 4 | 4 | 1 | 3 |
| DBS-4 | 474 | 25 | 0 | 13 | 0 | 12 | 11 | 3 | 1 | 10 |
| DBS-5 | 366 | 12 | 0 | 4 | 1 | 7 | 4 | 0 | 1 | 7 |
| DBS-6 | 366 | 13 | 0 | 6 | 1 | 6 | 6 | 1 | 2c | 4 |
| DBS-7 | 351 | 15 | 0 | 5 | 2 | 8 | 5 | 1 | 4 | 5 |
| DBS-8 | 367 | 16 | 1 | 10 | 1 | 4 | 8 | 2 | 2 | 4 |
| DBS-9 | 475 | 18 | 1 | 8 | 0 | 9 | 9 | 0 | 1 | 8 |
| DBS-10 | 361 | 22 | 1 | 9 | 0 | 12 | 9 | 1 | 3 | 9 |
| DBS-11 | 328 | 13 | 0 | 6 | 0 | 7 | 4 | 2 | 0 | 7 |
| DBS-12 | 376 | 9 | 0 | 3 | 1 | 5 | 4 | 1 | 1 | 3 |
| DBS-13 | 354 | 13 | 1 | 4 | 0 | 8 | 7 | 2 | 1 | 3 |
| DBS-14 | 355 | 11 | 1 | 6 | 0 | 4 | 7 | 2 | 0 | 2 |
| DBS-15 | 357 | 12 | 0 | 6 | 0 | 6 | 5 | 2 | 1 | 4 |
aFiltering criteria: frequency <1%, located in exon or splicing site (within the first 8 intronic nucleotides), non-synonymous.
bVariant of unknown significance.
c2056C > T nonsense homozygote mutation was identified in DUOX2 gene of patient DBS-6.