Table 1. SERPING1 variants identified by DNA sequencing or multiplex ligation-dependent probe amplification.

	cDNA numbering	Localization	Protein effect	Classification●	Type of mutation	C1-INH-HAE type	No. of families	Reference
1	c.19dupC	Exon 2	p.Leu7Profs*13	Likely pathogenic	Small dup	I	1	Novel
2	c.124G>T	Exon 3	p.Glu42*	Pathogenic	Nonsense	I	2	Pappalardo [16]
3	c.310C>T	Exon 3	p.Gln104*	Likely pathogenic	Nonsense	I	1	Gösswein [23]
4	c.360delG	Exon 3	p.Ser121Profs*27	Likely pathogenic	Small del	I	1	Novel
5	c.550G>A	Exon 3	p.Gly184Arg or splicing	Pathogenic	Missense/Splice defect	I	2	Kesim [24] Verpy [25] Bygum [13]
6	c.695T>G	Exon 5	p.Ile232Arg	Likely pathogenic	Missense	I	1	Novel
7	c.889+3A>T	Intron 5	p.Asp229_Ser296del	Likely pathogenic	Splice defect, skipping of exon 5	I	1	Novel
8	c.1232C>G	Exon 7	p.Ser411*	Pathogenic	Nonsense	I	2	Novel
9	c.1297delG	Exon 8	p.Asp433Thrfs*17	Likely pathogenic	Small del	I	1	Novel
10	c.1396C>T	Exon 8	p.Arg466Cys	Pathogenic	Missense	II	6	Skriver [18] Freiberger [26] Stein [27] Kalmar [28]
	Deletions
11	del exon 1–4 (a)			Pathogenic	Gross deletion	I	1	Duponchel [29]
12	del exon 1–8 (b)			Pathogenic	Gross deletion	I	1	Duponchel [29]
13	del entire or part of exon 4			Pathogenic	Gross deletion	I	2	Duponchel [29] Gösswein [23] Verpy [20]

^(a) The upstream breakpoint for the deletion is located less than 364kb from exon 1. Downstream breakpoint is probably located within intron 4.

^(b) The upstream breakpoint for the deletion is located less than 364kb from exon 1. Downstream breakpoint is unknown.

^● Criteria for classification:

Likely pathogenic:

- nonsense mutations or out of frame indels.

- missense mutations previously reported in two families.

Pathogenic:

- nonsense mutations or out of frame indels previously reported.

- missense mutations previously reported in more than two families.