Case2: Female, 20 years old, ethnicity not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: See Figure 4

PlateletAggregation: See Table 2

CasePreviousTesting: N/A

Gene: ITGA2B

Variant: NM_000419.3:c.1366_1371del (p.Val456_Asp457del)

LegacyVariant: (p.Val425_Asp426del)

ClinVar: 2898

CAiD: CA8603160

gnomAD: https://gnomad.broadinstitute.org/variant/17-42458268-TGTCTAC-T

PreviouslyPublished: PMID: 8704171

Case2: Patient LeM

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs:

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Platelets lack surface αIIbβ3 expression

PlateletAggregation: N/A

CasePreviousTesting: N/A

Gene: ITGA2B

Variant: NM_000419.3:c.1366_1371del V(425)D(426)del and other other variant is stated as "Unknown" in the GT database. See GT database if questions arise, this is where I found the variants

LegacyVariant: N/A

ClinVar: 2898

CAiD: CA8603160

gnomAD: MAF in the European (non-Finnish) population is 0.000008791 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000419.3%3Ac.1366_1371del

Case10: Patient LeM (found in the GT database) gender and age are not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: HP:0000979, HP:0000967 (Purpura/petechiae)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: <5% of normal expression

PlateletAggregation: N/A

CasePreviousTesting: N/A

Gene: ITGA2B

Variant: NM_000419.3:c.1366_1371del

LegacyVariant: N/A

ClinVar: 2898

CAiD: CA8603160

gnomAD: MAF in the European (non-Finnish) population is 0.000008791 https://gnomad.broadinstitute.org/variant/17-42458268-TGTCTAC-T

PreviouslyPublished: Reference number 21 in this article