Table 2. Summary of exome sequencing analysis of PKAB157-affected individuals.
| IV:1 | IV:4 | |
|---|---|---|
| Total mapped reads (Gbp) | 5.33 | 6.14 |
| Target coverage (%) | 96.75 | 97.42 |
| Mean depth of coverage ( × ) | 65 | 77 |
| Depth ≥20 × of coverage (%) | 86.87 | 89.30 |
| Total changes | 54 963 | 55 971 |
| Changes not in db135 (MAF ≥0.01) | 5039 | 5150 |
| Non-synonymous/Splice site/insertions/deletions | 701 | 749 |
| Changes not found in Pakistani control samples | 534 | 577 |
| Genes with homozygous/compound heterozygous changes | 23 | 26 |
| Changes not found in 1000 genome or NHLBI ESP | 15 | 24 |
| Changes predicted to be pathogenica | 2 | 3 |
| Genes with nucleotide variations in both samples | 1 | 1 |
| Changes co-segregating with the phenotype in family | 1 | 1 |
a
Pathogenicity predicted by at least two of the three prediction programs: Polyphen-2, SNPs3D and MutationTaster.