Case#: 22006, Age 58, Male, Blood Type O+ (Table S3)

Disease Assertion: VWD 1

FamilyInfo: The patient is one of 2 patients in Family# 2206. Patient 22007's variant information was not described.

Parental Genotype: Not listed

CasePresentingHPOs: N/A

CaseHPOFreeText: Bleeding Score 7, VWF:Ag: 27, VWF:RCo: 20, FVIII:C: 12, VWF:CB:22

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.1001G>A (p.Gly334Glu) and NM_000552.4(VWF):c.2561G>A (p.Arg854Gln)

ClinVar: 626947 and 296 ClinVar1 ClinVar2

CAID: CA232322015 and CA114139 CAID1 CAID2

gnomAD: MAF of 0.000008824 (1/11326 alleles) in the European (non-Finnish) population (CA232322015). gnomAD1

MAF of 0.005692 (143/25122 alleles) in the European (Finnish) population (CA114139). gnomAD2