Clinical Applicability of Whole-Exome Sequencing Exemplified by a Study in Young Adults with the Advanced Cryptogenic Cholestatic Liver Diseases

Table 2

Summary of variants present in coding regions in every available member of family trio (on the left) and of recessive homozygous variants (on the right) if the full family trio was available.

Patient and family		Variants	SNP	Indels	Recessive homozygotes	Rare	Nonsynonymous	Deleterious in silico
Number 1	Father	19,477	18,849	538	832 var	54	26	13
	Mother	19,211	18,540	574	7 indel
	Child	19,856	19,216	568	825 SNP
Number 2	Father	17,104	16,617	426	789 var	30	17	9
	Mother	20,200	19,640	500	7 indel
	Child	20,051	19,499	477	782 SNP
Number 3	Father	17,406	16,842	504	719 var	27	15	4
	Mother	19,500	18,920	505	5 indel
	Child	20,313	19,685	543	714 SNP
Number 4	Mother	20,184	19,668	478
	Child	18,738	18,253	441
Number 5	Mother	20,325	19,746	519
	Child	18,480	17,922	497
Number 6	Father	21,021	20,541	440	862 var	31	15	7
	Mother	21,520	20,974	499	2 indel
	Child	21,377	20,827	500	860 SNP
Mean		19,673	19,109	501