Case#: 29002, Age 38, Female, Blood Type O+ (Table S3)

Disease Assertion: VWD 1

FamilyInfo: The patient is the only member of Family#2902.

Parental Genotype: Not listed

CasePresentingHPOs: N/A

CaseHPOFreeText: Bleeding score 7, VWF:Ag: 22, VWF:RCo: 17, FVIII:C: 54, VWF:CB:17

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.3223-7_3236dup (p.Pro1079_Tyr1080insLeuGlnValAspProGluPro) and NM_000552.4(VWF):c.5277C>T (p.Asp1759=)

ClinVar: 310061 ClinVar

CAID: CA1139532066 and CA6402333 CAID1 CAID2

gnomAD: MAF of 0.01423 (1837/129090 alleles) in the European (non-Finnish) population (CA6402333). gnomAD