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    hae14141-sup-0001-tables1.pdf
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    1. ClingenBaseline 23 Oct 2026
      10

      Case#: 10, male, 9 years old, Chinese

      DiseaseAssertion: Hemophilia A, moderate

      FamilyInfo: NA

      ParentalTesting: NA

      CasePresentingHPOs: HP:0003125

      CaseHPOFreeText: FVIII:C = 2.1%

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

      Gene: F8

      Variant: NM_000132.3:c.1596G>A

      LegacyVariant:

      ClinVar: No

      CAID: CA414912044

      gnomAD:

      CaseInfo Gene:F8 HGNC:3546 DiseaseSeverity:ModerateHemophiliaA Inhibitor:Absent AssayDiscrepancy:NotReported Zygosity:Hemizygous FIXtesting:Partial Mutation:Nonsense DiseaseEntity:FactorVIIIDeficiency CAID:CA414912044 SupplementalData inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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