Table 2 Potential pathogenic variants identified in the IKBKG gene (NM_001099857.5)
Sample ID | Chromosome | Start | Stop | Call | Gene symbol | c.HGVS | p.HGVS | Zygosity | Pathogenicity (VarSome) |
|---|---|---|---|---|---|---|---|---|---|
P1 | chrX | 153788618 | 153788618 | CAGG | IKBKG | c.519-3_519dupCAGG | p.(A174Qfs*15) | Het | Pathogenic |
P2 | chrX | 153792576 | 153792576 | C | IKBKG | c.1167dupC | p.(E390Rfs*5) | Het | Pathogenic |
P3 | chrX | 153789930 | 153789930 | T | IKBKG | c.700dupT | p.(Y234Lfs*20) | Het | Likely pathogenic |
