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

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

	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

ISSN: 1471-2350