Case#: 23015, Age 74, Male, Blood Type A+ (Table S3)

Disease Assertion: VWD1

FamilyInfo: The patient is the only member of Family# 2310.

Parental Genotype: Not listed

CasePresentingHPOs: N/A

CaseHPOFreeText:VWF:Ag: 18, VWF:RCo:17.3, FVIII:C:19, VWF:CB:13

CaseNotHPOs: N/A

CaseNotHPOFreeText: Bleeding Score 3

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.2546+132G>A(p.=) and NM_000552.4:c.3614G>A (p.Arg1205His)

ClinVar: 308 ClinVar

CAID: CA232299449 and CA114160 CAID1 CAID2

gnomAD: MAF of 0.001179 ( 1/848 alleles) in the Latino population (CA232299449). gnomAD

Case#: 32005, Age 28, Female, Blood Type O- (Table S3)

Disease Assertion: VWD 1

FamilyInfo: The patient is the only member of Family# 3205.

Parental Genotype: Not listed

CasePresentingHPOs: N/A

CaseHPOFreeText: VWF:Ag: 30, VWF:RCo: 25, FVIII:C: 25, VWF:CB: 32

CaseNotHPOs: N/A

CaseNotHPOFreeText: Bleeding Score 4

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.2546+132G>A (p.=) and NM_000552.4:c.4751A>G (p.Tyr1584Cys)

ClinVar: 310

CAID: CA232299449 and CA114162 CAID1 CAID2

gnomAD: MAF of 0.001179 (1/848 alleles) in the Latino population (CA232299449) gnomAD

MAF of 0.004024 (519/ 128972 alleles) in the European (non-Finnish) population. gnomAD