Table 2.

Variants of interest identified by WES in nuclear family and their segregation.

In gray: 18 de novo variants identified in the proband; in pink: variants shared by the proband and healthy parent; in green: variants shared by the proband and affected parent. Black bolded genes were analyzed for LOH. Red bolded gene has confirmed LOH. SSVs, splice site variants, including missense variants. ^∗Genes systematically analyzed in WES, as recommended by American College of Human Genetics, and including all types of variants.