Table 1.

Families analyzed by NGS.

HAE type	Fam ID	Nat	Mutation leading to HAE		Mutation type	N° symptomatic/asymptomatic	Healthy relatives (no mutation)
			cDNA change	Protein change
C1-INH-HAE	1	D	c.-22-2A>G	None	Regulatory region	6/0	1
	2	D	c.23insT	p.(Thr9fs)	Frameshift	1/0	0
	3	B	c.51+1G>T	?	Splicing defect	1/0	0
	4	B	c. 51+2T>C	?	Splicing defect	2/0	0
	5	B	c.97_115del15	p.(Asp33fs)	Frameshift	1/0	0
	6	D	c.143_144delCA	p.(Thr48fs)	Frameshift	2/0	0
	7	D	c.143_144delCA	p.(Thr48fs)	Frameshift	1/0	0
	8	D	c.143_144delCA	p.(Thr48fs)	Frameshift	1/0	0
	9	B	c.550G>C	p.Gly184Arg	Missense	1/0	0
	10	D	c.597C>G	p.Tyr199Ter	Nonsense	1/0	0
	11	D	c.668delA	p.(Gln223fs)	Frameshift	1/0	0
	12	B	c.752T>C	p.Leu251Pro	Missense	1/0	0
	13	D	c.762_763delCA	p.(Asn254fs)	Frameshift	2/0	0
	14	D	c.795G>A	p.Trp265Ter	Nonsense	1/0	0
	15	D	c.838_846del9	p.Ser280_Pro282del	Inframe	1/0	0
	16	D	c.878T>C	p.Ile293Thr	Missense	1/0	0
	17	B	c.889G>A	p.Ala297Thr	Missense	2/0	0
	18	D	c.1029+4delA	?	Splicing defect	1/0	0
	19	B	c.1104delA	p.(Asp369fs)	Frameshift	2/0	0
	20	B	c.1353_1354delGA	p.(Glu451fs)	Frameshift	1/0	1
	21	B	c.1369G>C	p.Ala457Pro	Missense	8/0	13
	22	D	c.1397G>A	p.Arg466His	Missense	1/0	0
	23	D	c.1417G>A	p.Val473Met	Missense	2/0	0
	24	B	c.1431C>A	p.Phe477Leu	Missense	1/0	0
	25	B	c.1480C>T	p.Arg494Ter	Nonsense	2/0	0
	26	D	c.1480C>T	p.Arg494Ter	Nonsense	1/0	0
F12-HAE	27	B	c.983C>A	p.Thr328Lys	Missense	4/2	0
	28	B	c.983C>A	p.Thr328Lys	Missense	3/0	3
	29	B	c.983C>A	p.Thr328Lys	Missense	2/0	0
	30	B	c.983C>A	p.Thr328Lys	Missense	1/0	1
	31	S	c.983C>A	p.Thr328Lys	Missense	2/0	0

The mutations in SERPING1 and F12 identified as causative of HAE in each family are described. The number of symptomatic and asymptomatic mutation carriers, and healthy relatives (without mutation) analyzed by NGS are shown in the last columns. B, Brazilian; D, Danish; Fam ID, family identification; Nat, nationality; S, Spanish; ?, not known.