Table 1.

Variants identified in individual #54994 by exome sequencing

Synonymous	11,199
NSV	10,486
NSV absent from 1046 controls	258
≥2 NSV/gene	5 (TMCO4, OPN4, ABLIM1, FAM187B,SLC52A2)

NSV = missense, nonsense, stop loss, splice site disruption, insertions, deletions