Supplementary Tables 1 and 2 combined information:

Case31: GT31, Female, 13 years old

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: Not available per supplementary table 1

ParentalGenotype: Parents are not consanguineous, no other genotype information available

CasePresentingHPOs: HP:0000978, HP:0000979, HP:0031364, HP:0000421, HP:0000225

(Bruising, purpura, ecchymosis, epistaxis, gingival bleeding)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Showed <5% 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 and ITGB3

Variant: NM_000419.3:c.1022C>T (p.Ala341Val) in ITGA2B and NM_000212.2:c.412G>A (p.Val138Met) in ITGB3

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA399804629 (p.Ala341Val) and CA400021826 (p.Val139Met)

gnomAD: N/A