Table 4 The list of novel variants discovered in the cohort
| Â | Gene | Site | Location | Transcript | Coding | Allele Frequency | ClinVAR | Oncomine | OncoKBâ„¢ |
|---|---|---|---|---|---|---|---|---|---|
1 | BRCA1 | splicesite | chr17:41215349 | NM_007300.3 | c.5256+1G > A | 12.53% | Pathogenic | Not recorded | No reference |
2 | BRCA1 | splicesite | chr17:41215890 | NM_007300.3 | c.5215+1G > A | 6.12% | Pathogenic | Hotspot | No reference |
3 | BRCA2 | splicesite | chr13:32890556 | NM_000059.3 | c.-38-3CAG > C | 51.19% | Likely pathogenic | Not recorded | No reference |