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Table 4 Summary of exome sequencing data for the index case and his parents

From: Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa

  Proband Mother Father
Total captured regions size 64 Mb 64 Mb 64 Mb
% of captured regions with coverage >10 99.7 99.7 99.8
Average coverage of captured region (%) 98.8 98.6 99.0
Total number of SNPs 21,858 22,433 22,043
Total number of INDELs 510 503 515
N rare homozygous 23 11 16
N rare heterozygous 269 201 201
N X linked 21 15 18
  1. SNP single nucleotide polymorphism