Skip to main content

Table 1 Categories of coding variation per individual

From: Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants

 

Cases

Controls

Total variants

23,756 ± 836

23,749 ± 797

Coding

765 ± 62

760 ± 64

Missense

307 ± 30

305 ± 31

Damaging

85 ± 12

84 ± 13

Nonsense/splice (loss-of-function)

3 ± 1.4

2.5 ± 1.8

  1. All coding variant passing quality control filters were annotated and categorized by ANNOVAR into these categories