Case#: 05012, Age 10, Female, Blood Type O+ (Table S3)

Disease Assertion: VWD1

FamilyInfo: Patient is the only member of Family# 0511.

Parental Genotype: Not listed

CasePresentingHPOs: N/A

CaseHPOFreeText:Bleeding Score 4, VWF:Ag: 15, VWF:RCo:12.3, FVIII:C: 45, VWF:CB: 25

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

Protein Expression: N/A

CasePreviousTesting: 48,48 Access-Array amplification. NGS Molecular analysis was performed. Sanger sequencing was used to validate selected mutations

Gene: VWF

Variant: NM_000552.4:c.2119T>C

ClinVar: N/A

CAID: CA383494546 CAID

gnomAD: N/A