Across 2,384 individuals with ASD, we identified 1,418 missense variants affecting 1,269 unique genes and annotated the impact of the variants using evolutionary action scores (Table S1)
Case#: ProbandID:14248
DiseaseAssertion: autism spectrum disorder
FamilyInfo: n/a
ParentalGenotype: this variant was asserted to be de novo.
CasePresentingHPO: n/a
PlateletAggregation: n/a
CaseHPOFreeText: n/a
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
ProteinExpression: n/a
CasePreviousTesting: n/a
Gene: ITGA2B
Variant: M1018T
HGVS: NM_000419.3:c.3053T>C
ClinVar: Not reported
CAID: CA399788190
gnomAD: not found in v4.1.0