Table 1.

Identification of de novo variants in affected proband.

Variants	Proband	Mother	Father
Total	26986	26437	27146
NSa/SSb/Indelc	13279	12755	13317
Noveld	1301	834	1241
De novo	5	-	-

^aNS - nonsynonymous;

^bSS - splice-site;

^cindel - frameshift insertion/deletion.

^dNovel variants were defined as those not found in 1000 Genomes Pilot 1 or an internal exome database.