Supplementary Tables 1 and 2 combined information:
Case39: GT39, Male, 25 years old
DiseaseAssertion: Glanzmann thrombasthenia
FamilyInfo: Available per Table 1; however, very minimal information
ParentalGenotype: Parents are not consanguineous, no other genotype information available
CasePresentingHPOs: HP:0100309 (Subdural hematoma)
CaseHPOFreeText: Post traumatic hemorrhage
CaseNotHPOs: N/A
CaseNotHPOsFreeText: N/A
ProteinExpression: Showed 50-100% (variant) of αIIbβ3 expression measured by flow cytometry
PlateletAggregation: Platelet aggregation showed no response to ADP and collagen but normal response to ristocetin
CasePreviousTesting: All exons from ITGA2B and ITGB3 genes were amplified by PCR using intronic primers. DNA sequencing was determined by Sanger sequencing.
Gene: ITGA2B
Variant: NM_000419.3:c.2570G>T (p.Cys857Phe) and NM_000419.3:c.1769G>A (p.Arg590Gln)
LegacyVariant: N/A
ClinVar: N/A
CAiD: CA399794409 (p.Cys857Phe) and CA8602943 (p.Arg590Gln)
gnomAD: MAF for (p.Arg590Gln) in the Latino population 0.0002314 https://gnomad.broadinstitute.org/variant/17-42457166-C-T