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Summary of the mutations described in F12, plasminogen (PLG) and angiopoietin (ANGPT1) genes resulting in HAE.
| S no | Gene name | Variant observed in HAE |
|---|---|---|
| 1. | F12 | Exon 9 missense variants (p.Thr328Lys) and (p.Thr328Arg) Exon 9/intron 9 boundary large deletion of 72 bp (c.971_1018 + 24del72) duplication of 18 bp (c.892_909dup) |
| 2. | Plasminogen (PLG) | Exon 9 missense variant (c.988 A>G), (p.Lys330Glu) |
| 3. | Angiopoietin (ANGPT1) | Missense mutation c.807G>T, p.Ala119Ser |
