Table 1.
Overall rare* variant mutation burden: all genes.
Figure 1.
Location of all mutations of interest, i.e. rare and exclusive to cases or controls.
Mutations were counted if missense, nonsense, splice site, or frameshift in CNTNAP2 (in point of fact, all were missense). Variants in red are exclusive to cases; those in green, controls. Those predicted to be deleterious in SIFT are underlined in orange; in PolyPhen2, purple. Domain names and approximate locations from Bakkaloglu et al.,
Table 2.
Rates of singleton* mutations: all genes.
Table 3.
Rates of mutation predicted deleterious* by SIFT-or-PolyPhen2: all genes.
Table 4.
Inheritance of mutations predicted deleterious* by SIFT-or-PolyPhen2.
Table 5.
Combined CNTNAP2 deleterious variants**.