Skip to main content
. Author manuscript; available in PMC: 2020 Jan 1.
Published in final edited form as: Genet Med. 2018 Dec 3;21(7):1611–1620. doi: 10.1038/s41436-018-0380-2

Figure 3. Patients with multiple variants.

Figure 3

Family structures shown for ASD patients with multiple disorder-related variants. The first seven patients from seven families carried multiple pathogenic or likely pathogenic variants. de novo (lightning bolt), paternally (blue arrow) and maternally (green arrow) inherited SNV and CNV (duplication or deletion) events are indicated as well as the severity of the missense variants as determined by CADD score (i.e., MIS27 denotes a missense variant with a CADD score of 27).