Table 3.

Gene variants in patients with HAE-nC1-INH

Patient #	Laboratory testing						Clinical manifestation
	Gene	Chromosome	cDNA numbering	Effect on protein	C1-INH level (g/L)	C1-INH Function (%)	Gender	Age at onset	Family history	Skin	Laryngeal	Gastrointestinal tract	Allergic diseases	Autoimmune diseases	Simultaneous attacks of edema and pruritic rashes
1	MYOF	10	NM_013451.4 c.5923G > A	p.Glu1975Lys	0.31	> 93	F	43.5	No	Yes	Yes	Yes	Yes	No	Yes
2	MYOF	10	NM_013451.4 c.6001 C > G	p.Arg2001Gly	0.28	100.7	F	49.2	Yes	Yes	Yes	Yes	Yes	Yes	Yes
3	MYOF	10	NM_013451.4 c.3965 C > G; c.2542_2543delinsAA	p.Ala1322Gly; p.Lys848=	0.21	106.3	F	30	No	Yes	No	Yes	Yes	No	Yes
4	MYOF	10	NM_ 013451.4 c.1097G > T	p.Arg366Leu	0.28	88.2	M	30	No	Yes	No	No	No	No	No
5	HS3ST6	16	NM_001009606.4 c.497G > A	p.Arg166His	0.45	60.4	M	31	No	Yes	No	No	Yes	No	No
6	FXII	5	NM_000505.3 c.303_304del	p.His101Glnfs*36	0.22	37.94	F	20	No	Yes	No	No	Yes	Yes	No
7	KNG1	3	NM_001102416.3 c.1690 C > T	p.Gln564Ter	0.29	> 93	M	53.9	No	Yes	No	No	No	No	No
8	KNG1	3	NM_001102416.3 c.1143G > C	p.Arg381Ser	0.25	2.6	M	62	No	Yes	Yes	No	Yes	No	No

*The normal range for C1-INH levels is 0.21–0.39 g/L, and normal C1-INH function is defined as equal to or greater than 68%