Table 2. The list of likely pathogenic and pathogenic mutations detected in the cohort.
| Sample ID | Gene | Mutation type | Description | AF | Degrees | Public database or published paper |
| RS1829111TIS | ATM | frameshift variant | p.L2081fs | 78.90% | Likely pathogenic | N |
| RSI 829631HS | ATM | stop gained | p.Y155* | 43.90% | Likely pathogenic | N |
| RS1806623TIS | ATM | stop gained | p.E277* | 46.82% | Pathogenic | Y (clinvar) |
| RS1810742TIS | BRCA1 | splice region variant | p.T1691K | 57.66% | Likely pathogenic | Y (clinvar) |
| RSI 827051FFP | BRCA1 | splice region variant | p.T1691K | 72.22% | Likely pathogenic | Y (clinvar) |
| RS1828137FFP | BRCA1 | frameshift variant | p.H318fs | 60.59% | Likely pathogenic | Y (PMID: 28724667) |
| RS1834453TIS | BRCA1 | frameshift variant | p.I1824fs | 32.62% | Pathogenic | Y (PMID: 28724667) |
| RS1803594FFP | BRCA1 | splice region variant | c.5074+3A>G | 58.09% | Pathogenic | Y (clinvar) |
| RS1726576TIS | BRCAl | missense variant | P-F1734L | 80.27% | Likely pathogenic | Y (clinvar) |
| RS1725206FFP | BRCA1 | frameshift variant | p.I1824fs | 40.06% | Pathogenic | Y (PMID: 28724667) |
| RS1827494TIS | BRCAl | frameshift variant | p.P930fs | 61.94% | Likely pathogenic | Y (PMID: 28724667) |
| RS1829599FFP | BRCAl | frameshift variant | p.Q1323fs | 64.93% | Pathogenic | N |
| RSI 811823TIS | BRCAl | frameshift variant | p.L1306fs | 84.90% | Pathogenic | Y (PMID: 28724667) |
| RSI 804518FFP | BRCAl | splice donor variant | c.134+1G>T | 48.46% | Pathogenic | Y (clinvar) |
| RS1815241TIS | BRCA2 | frameshift variant | p.A938fs | 52.73% | Pathogenic | Y (clinvar) |
| RS1844984FFP | BRCA2 | splice acceptor variant | c.-39-l_-39del | 36.90% | Pathogenic | Y (clinvar) |
| RS1829456TIS | BRCA2 | stop gained | p.Q1295* | 55.38% | Pathogenic | Y (clinvar) |
| RS1803222TIS | BRCA2 | frameshift variant | p.A2764fs | 71.71% | Pathogenic | N |
| RS1821585FFP | BRCA2 | frameshift variant | p.V726fs | 51.09% | Likely pathogenic | N |
| RS1722724TIS | BRCA2 | stop gained | p.W2626* | 67.38% | Pathogenic | Y (clinvar) |
| RS1840694PLA | BRCA2 | stop gained | p.Q1037* | 49.37% | Pathogenic | Y (clinvar) |
| RSI 823761TIS | BRCA2 | stop gained | p.S1882* | 82.53% | Pathogenic | Y (clinvar) |
| RS1833574PLA | BRCA2 | stop gained | P-Q1037* | 48.98% | Pathogenic | Y (clinvar) |
| RS1841181FFP | BRCA2 | splice donor variant | c.316+lG>A | 59.00% | Pathogenic | Y (clinvar) |
| RS1723884TIS | BRCA2 | stop gained | p.K944* | 57.95% | Pathogenic | Y (clinvar) |
| RS1838903TIS | BRCA2 | frameshift variant | p.T3033fs | 57.11% | Pathogenic | Y (clinvar) |
| RS1826534FFP | BRCA2 | frameshift variant | p.N957fs | 57.89% | Pathogenic | N |
| RS1812099FFP | BRCA2 | stop gained | p.Ql 129* | 87.60% | Pathogenic | Y (clinvar) |
| RSI 800551FFP | BRCA2 | frameshift variant | p.A938fs | 54.00% | Pathogenic | Y (clinvar) |
| RS1813609FFP | BRCA2 | frameshift variant | p.W1692fs | 62.10% | Likely pathogenic | Y (PMID: 26689913, PMID: 25415331) |
| RS1801361TIS | BRCA2 | frameshift variant | p.A938fs | 56.82% | Pathogenic | Y (clinvar) |
| RS1813932FFP | BRCA2 | stop gained | p.E7* | 64.48% | Pathogenic | N |
| RS1840466TIS | BRIP1 | splice donor variant | c.627+lG>A | 64.39% | Pathogenic | Y (clinvar) |
| RS1809229FFP | BRIP1 | start lost | p.Ml? | 40.17% | Pathogenic | Y (clinvar) |
| RS1840704PLA | BRIP1 | stop gained | P-R798* | 48.41% | Pathogenic | Y (clinvar) |
| RS1828521TIS | CDH1 | missense variant | p.T340A | 45.90% | Likely pathogenic | Y (clinvar) |
| RS1829332TIS | CDHl | missense variant | P-T340A | 35.80% | Likely pathogenic | Y (clinvar) |
| RS1830223FFP | CDH1 | missense variant | p.T340A | 43.68% | Likely pathogenic | Y (clinvar) |
| RS1726142FFP | CHEK2 | stop gained | p.R95* | 73.50% | Pathogenic | Y (clinvar) |
| RSI 829637TIS | CHEK2 | missense variant | p.H371Y | 78.51% | Likely pathogenic | Y (clinvar) |