Supplementary Table S1 & S2 Proband and Variant Information:

Case62: GT65, Female, 31 years old, French

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: HP:0000421, HP:0000225, HP:0000132, HP:0000790, HP:0002239, HP:0006298

(Epistaxis, gingival bleeding, menorrhagia, hematuria, GI bleeding, bleeding after dental procedure)

CaseHPOFreeText: Tonsil bleeding, muscle hematomas

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Flow cytometry showed <5% expression of αIIbβ3 (See Supplementary Table 1)

PlateletAggregation: Absent platelet aggregation (See Supplementary Table 1)

CasePreviousTesting: Sanger sequencing of ITGA2B and ITGB3

Gene: ITGA2B

Variant: NM_000419.3:c.574+1G>A and NM_000419.3:c.1946+3G>T

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA399805691 and CA626121071

gnomAD: MAF in the European (non-Finnish) population is 0.00001235 https://gnomad.broadinstitute.org/variant/17-42462918-C-T and MAF in the African population is 0.000 https://gnomad.broadinstitute.org/variant/17-42456008-C-A

Case1: GTP1, gender, age, or ethnicity not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: Sequencing of both parental genomic DNA confirmed patient was homozygous for IVS4+1G>A mutation

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Flow cytometry showed <5% αIIbβ3 expression, which was confirmed by western blot analysis

PlateletAggregation: N/A

CasePreviousTesting: Sequencing of patient genomic DNA was done on ITGA2B (no mention of ITGB3)

Gene: ITGA2B

Variant: NM_000419.3:c.574+1G>A (IVS4+1G>A)

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA399805691

gnomAD: MAF in the European non-Finnish population 0.00001235 http://gnomad.broadinstitute.org/variant/17-42462918-C-T