Table 1.

Number of Identified Single-Nucleotide Variants Compared to the Reference Genome hg18 and Their Categorization and Filtering

	Affected Sibling 1	Affected Sibling 2	Affected Sibling 3	Shared between Affected Siblings 1 and 2	Shared between Affected Siblings 1, 2, and 3	+ NOT in Unaffected Sibling 4
Missense, nonsense, splice-site variants	8712	8716	8752	5289	4507	ND
+ Homozygous state	2516	2489	2649	1411	981	127
+ Not reported in dbSNP131	11	18	27	5	4	1

ND denotes not determined.