Table II.
Whole exome sequencing analysis of the proband and his parents.
| Items/samples | I-1 (father) | I-2 (mother) | II-1 (patient) |
|---|---|---|---|
| Total yield (Gbp) | 14,27 | 9,48 | 5,30 |
| Mappable reads (%) | 99.2 | 99.4 | 92.1 |
| Coverage of the target region (≥1X, %) | 95.7 | 95.2 | 97.9 |
| Coverage of the target region (≥10X, %) | 90.5 | 88.2 | 92.9 |
| Mean read depth of the target region (X) | 58.7 | 40.6 | 57.9 |
| Total number of SNPs | 86,313 | 84,206 | 49,686 |
| Number of coding SNPs | 20,265 | 20,498 | 19,472 |
| Total number of indels | 7,902 | 7,472 | 6,898 |
| Number of coding indels | 390 | 398 | 508 |
SNP, single nucleotide polymorphism.