Case#: 01019, Age 52, Female, Blood Type O+ (Table S3)

Disease Assertion: VWD 1

FamilyInfo: 3 other family members tested. All 3 had the same VWD type and variation type. (Family 0111)

Parental Genotype: not listed

CasePresentingHPOs:

CaseHPOFreeText: Bleeding Score 12, VWF:Ag: 17, VWF:RCo: 21, FVIII:C: 49, VWF:CB: 20

CaseNotHPOs:

CaseNotHPOFreeText:

Protein Expression:

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.3223-7_3236dup (p.Pro1079_Tyr1080insLeuGlnValAspProGluPr)

ClinVar: N/A

CAID: CA1139532066

gnomAD: N/A