Case#: 06012, Age 10, Male, Blood Type O+ (Table S3)

Disease Assertion: VWD1

FamilyInfo: Patient is member of Family# 0609, which includes 3 individuals. All members of the family have the same variant.

Parental Genotype: Not listed

CasePresentingHPOs: N/A

CaseHPOFreeText: Bleeding score 10, VWF:Ag: 13, VWF:RCo:14, FVIII:C:40, VWF:CB:13

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.3363G>T (p.Arg1121Ser)

ClinVar: N/A

CAID: CA383511875 CAID

gnomAD: N/A