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    Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes
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    1. ClingenBaseline 22 Oct 2026
      SERPING1ID2664Ac.685delGnewdis D + dn D (shifted)Exon 4 skipping (band D), use of cr: c.649 (band C), use of dn: c.684 (band B), use of cr: c.685 + 132 (band A)p.Gly184_Pro228delp.Gly217_Pro228delp.Asp229Thrfs*4 (NMD?)p.Asp229Valfs*48 (NMD?)Normal exon inclusion (band A) *, exon 4 skipping (band B), exon 4 + 5 skippingp.Gly184_Pro228delp.Gly184_Ser296del

      Patient: ID266

      Variant: c.685delG

      CAID: CA2580612031

      Functional effect: Normal exon inclusion (band A) *, exon 4 skipping (band B), exon 4 + 5 skipping. Observed in blood.

      CA2580612031 CaseInfo Individual inferred_gene_hgnc:1228 inferred_gene_source:CAID UNC Biocuration Core
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    sciencedirect.com/science/article/pii/S1521661616305083