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Table 3 Family trio DES identifies the MTOR alteration p.E1799K (c.5395G>A) in the proband and affected brother

From: Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities

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
  1. 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