Table 2.

Probably pathogenic variants found in C1-INH-HAE and F12-HAE patients by NGS.

Gene	Protein change	Nat	Patient/family	Age (years)	Onset (years)	Frequency (per year)	Duration (days)	Face	Extremities	Abdominal	Upper airways	Genitalia
ACE	p.G354R	B	1/17	49	16	12	3	–	×	–	×	–
		B	2/17	25	NI	< 1	< 1	–	–	×	–	–
		D	1/14	54	10	4	3	×	×	×	×	×
	p.Y244C	D	6/1	73	15	< 1	2–3	×	×	×	–	–
		B	1/24	42	7	2	3	×	×	×	×	×
	p.T916M	D	3/1	71	21	3	2–3	×	×	×	–	–
		D	7/1	36	10	18	3	×	×	×	×	–
NOS3	p.D287N	D	5/1	16	3	2	NI	–	–	×	–	–
KLKB1	p.C548Y	D	3/1	71	21	3	2–3	×	×	×	–	–
		D	6/1	73	15	< 1	2–3	×	×	×	–	–
		B	4/27	51	Asympt.	Asympt.	Asympt.	Asympt.	Asympt.	Asympt.	Asympt.	Asympt.

The mutations were analyzed as probably pathogenic when classified as damaging for all the in silico software assessed (SIFT, PolyPhen-2, PROVEAN, and CADD). Asympt, asymptomatic; NI, not identified.