Case#: 13018, Age 5, Male, Blood type not determined (TableS3)

Disease Assertion: VWD 1

FamilyInfo: The patient is the only member of Family#1314.

Parental Genotype: Not listed

CasePresentingHPOs: N/A

CaseHPOFreeText: Bleeding Score 0, VWF:Ag:18, VWF:RCo:21, FVIII:C:39, VWF:CB: 15

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.4238C>T (p.Pro1413Leu)

ClinVar: 100342 ClinVar

CAID: CA228565 CAID

gnomAD: MAF of 0.00003266 ( 1/30616 alleles) in the South Asian population. gnomAD