Case#: 21006, Age 40, Male, Blood Type O+ (Table S3)

Disease Assertion: VWD 1

FamilyInfo: The patient is one of 4 members of Family# 2103. Each patient has the p.Gly2083Asp variant. Some of the patients have a second variant.

Parental Genotype: Not listed

CasePresentingHPOs: N/A

CaseHPOFreeText: Bleeding Score 8, VWF:Ag: 11, VWF:RCo: 10, FVIII:C:29, VWF:CB: 10.3

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.6248G>A (p.Gly2083Asp)

ClinVar: N/A

CAID: CA383492072 CAID

gnomAD: N/A

Case#: 21023, Age 43, Female, Blood Type O+ (Table S3)

Disease Assertion: VWD 1

FamilyInfo: The patient is the only member of Family #2120.

Parental Genotype: Not listed

CasePresentingHPOs: N/A

CaseHPOFreeText: VWF:Ag:7.6, VWF:RCo:6, FVIII:C: 11, VWF:CB:3.9

CaseNotHPOs: N/A

CaseNotHPOFreeText: Bleeding Score 2

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.1110-26T>A (p.=) , NM_000552.4:c.2103C>T (p.Cys701=), and NM_000552.4:c.6248G>A (p.Gly2083Asp)

ClinVar: 310076 ClinVar1

CAID: CA6403542 , CA6403175, and CA383492072 CAID1 CAID2 CAID3

gnomAD: MAF of 0.008911 (222/ 24914 alleles) in the African population (CA6403542). MAF of 0.005928 (148/ 24968 alleles) in the African population (CA6403175). gnomAD1