HAE type | Gene | Nucleotide change | AA change | Chromosome | Variant first described |
---|---|---|---|---|---|
HAE-FXII | F12 | c.983C > A | p.T328K | 5 | Dewald and Bork 2006 [5] |
HAE-FXII | F12 | c.983C > G | p.T328R | 5 | Dewald and Bork 2006 [5] |
HAE-FXII | F12 | c.971_1018 + 24del72 | Indel | 5 | Bork et al. 2011 [11] |
HAE-FXII | F12 | c.892_909dup | Duplication p.298_303 | 5 | Kiss et al. 2013 [12] |
HAE-PLG | PLG | c.988A > G | p.K330E | 6 | Bork et al 2018 [8] |
HAE-ANGPT1 | ANGPT1 | c.807G > T | p.A119S | 8 | Bafunno et al. 2018 [7] |
HAE-KNG1 | KNG1 | c.1136 T > A | p.M379K | 3 | Bork et al. 2019 [9] |