Table 3.

Family trio DES identifies the MTOR alteration p.E1799K (c.5395G>A) in the proband and affected brother

Nucleotidesa		Proband	Brother	Mother
Reference	C	53.23% (33/62)	52.63% (20/38)	100.00% (31/31)
Mutation	T	46.77% (29/62)	47.37% (18/38)	0.00% (0/31)
Q Score		220	148	119

^aThe variant is notated as C>T by the alignment software because the MTOR gene is situated on the minus strand of chromosome 1. For each trio member, the percentage of reads is followed in brackets by the fraction of wt or variant reads over the total number of reads