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Table 1 Patients’ clinical and genetic characteristics

From: Hereditary angioedema caused by a premature stop codon mutation in the SERPING1 gene

Proband number Age Gender C1-INH antigenic levels (g/L) CDS Molecule effects Exon References
1 53 Female 0.03 c.44 delT p.L15Rfs78 ×  Exon 2  
2 30 Female 0.09 c.289 C>T p.Q97 ×  Exon 3 [19]
3 25 Female 0.04 c.296_303 delCCATCCAA p.T99fs129 ×  Exon 3 [19]
4 30 Male 0.05 c.538 C>T p.Q180 ×  Exon 3  
5 52 Female 0.04 c.786-787insT p.N263Qfs296 ×  Exon 5  
6 46 Female 0.04 c.794 G>A p.W265 ×  Exon 5  
7 50 Male 0.04 c.939 delT p.H314Tfs320 ×  Exon 6  
8 42 Female 0.09 c.1214-1223 delCCAGCCAGGA p.T405Ifs427 ×  Exon 7  
9 81 Male 0.08 c.1279 delC p.L426fs428 ×  Exon 8 [19]
  1. C1-INH C1 inhibitor, CDS coding sequence
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