Case#: 35011, Age 46, Male, Blood Type O+ (Table S3)

Disease Assertion: VWD 1

FamilyInfo: The patient is one of 3 members of Family#3505. All have VWD type 1 and patient# 35013 has an additional intronic variant that the other two family members don't have.

Parental Genotype: Not listed

CasePresentingHPOs: N/A

CaseHPOFreeText: VWF:Ag: 18, VWF:RCo: 14, FVIII:C: 42, VWF:CB: 12

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.5198T>C (p.Leu1733Pro) and NM_000552.4(VWF):c.6187C>T (p.Pro2063Ser)

ClinVar: 100436 ClinVar

CAID: CA383496267 and CA202650 CAID1 CAID2

gnomAD: MAF of 0.04854 (1486/30616 alleles) in the South Asian population (CA202650). gnomAD

Case#: 10013, Age 23, Female, Blood Type O+ (Table S3)

Disease Assertion: VWD1

FamilyInfo: The patient is the only member of Family#1011.

Parental Genotype: Not listed

CasePresentingHPOs: N/A

CaseHPOFreeText: Bleeding Score 3, VWF:Ag:7.2, VWF:RCo:5.6, FVIII:C:19, VWF:CB:6.5

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.5198T>C (p.Leu1733Pro)

ClinVar: N/A

CAID: CA383496267 CAID

gnomAD: N/A

Case#: 35004, Age 16, Male, Blood Type A+ (Table S3)

Disease Assertion: VWD 1

FamilyInfo: The patient is one of 4 members of Family# 3501. All members have the same variants, and patient 35001 has an additional variant.

Parental Genotype: Not listed

CasePresentingHPOs: N/A

CaseHPOFreeText: Bleeding Score 6, VWF:Ag: 5.6, VWF:RCo: 7.9, FVIII:C: 19, VWF:CB: 7.8

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_000552.3:c.5198T>C (p.Leu1733Pro) and NM_000552.4:c.6187C>T (p.Pro2063Ser)

ClinVar: 100436 ClinVar

CAID: CA383496267 and CA202650 CAID1 CAID2

gnomAD: MAF of 0.04854 (1486/ 30616 alleles) in the South Asian population (CA202650). gnomAD