Table 2 Categorization of Detected Variations in qPHS4.1 and qPHS5.1
| Category | qPHS4.1 | qPHS5.1 | |||
|---|---|---|---|---|---|
| SNPs | InDels | SNPs | InDels | ||
| Exonic | Synonymous | 4 | 0 | ||
| Non-Synonymous | 6 | 0 | |||
| Non-Frameshift Insertion | – | 1 | |||
| Intronic | 70 | 19 | |||
| Upstream | 39 | 9 | 2 | ||
| Downstream | 47 | 10 | |||
| Upstream/Downstream | 5 | 1 | |||
| Intergenic | 272 | 82 | |||
| transition | 277 | – | |||
| transversion | 166 | – | |||
| Insertion | – | 62 | |||
| Deletion | – | 62 | |||
| Total | 443 | 124 | |||