Skip to main content

Table 1 Results of exome sequencing of 2 affected sisters and their unaffected parents

From: Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family

Parameter Elder sister Younger sister Father Mother
Mapped reads 42766143 24025346 37859563 40082904
On-target 95.42% 95.48% 96.65% 96.62%
Mean coverage 120.5X 68.36X 111.5X 117X
20X coverage 92.97% 85.20% 91.95% 93.72%
Uniformity 90.95% 91.24% 90.68% 92.24%
No. of total variants 53753 52397 52433 53316
No. of total variants with quality score ≥ 30 51907 49251 51016 51941
No. of coding variants 21276 20200 20839 21059
No. of nonsynonymous variants 10703 10156 10454 10563
After removal of polymorphisms 796 797 731 688
Shared Candidate PDS mutations
 Homozygous 1 1 0 0
 Compound heterozygous 2 2 0 0
 Heterozygous inherited from father 132 132 132 NA
 Heterozygous inherited from mother 121 121 NA 132
Candidate PDS mutations in elder sister only
 Homozygous 0 NA NA NA
 Compound heterozygous 5 NA NA NA
 Heterozygous inherited from father 73 NA 73 NA
 Heterozygous inherited from mother 83 NA NA 83
Candidate PDS mutations in younger sister only
 Homozygous NA 0 0 0
 Compound heterozygous NA 3 0 0
 Heterozygous inherited from father NA 80 80 NA
 Heterozygous inherited from mother NA 73 NA 73