Supplemental Table S1:

Case1: Male, China, age not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: HP:0004406, HP:0000225, HP:0000979

(Recurrent epistaxis, gingival bleeding, and purpura)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: 14% αIIbβ3 expression

PlateletAggregation: Absent platelet aggregation (all the information that is provided in Supp. Table S1)

CasePreviousTesting: Sanger sequencing of exons, splice sites and untranslated regions of the ITGA2B and ITGB3 genes was performed

Gene: ITGA2B

Variant: NM_000419.3:c.1429G>C (p.Ala477Pro)

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA399803370

gnomAD: N/A

PreviouslyPublished: PMID: 15946231

Case1: (Patient Chinese-57) Male, 5 years old, Chinese

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: HP:0004406, HP:0000225, HP:0000979

(Recurrent epistaxis, gingival bleeding, purpura)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

ProteinExpression: "Markedly decreased αIIbβ3 expression"

Platelet Aggregation: Absent platelet aggregation in response to ADP, epinephrine, collagen and normal response to ristocetin

CasePreviousTesting: They performed PCR SSCP analysis of the coding sequences and splice sites of ITGA2B and ITBG3

Gene: ITGA2B

Variant: NM_000419.3:c.1429G>C (p.Ala477Pro)

LegacyVariant: (p.Ala446Pro)

ClinVar: N/A

CAiD: CA399803370

gnomAD N/A