Table 5.

Large deletions/duplication identified in the SERPING1 gene.

Affected exon	Variation	Number of affected families	Number of affected patients	References
4	exon 4 deletion	5	9	(35)
6	c.939_1029+2515del	1	2	-
7	exon 7 deletion	1	4	(33)
7	exon 7 duplication	1	9	-
7–8	exon 7–8 deletion	1	2	(23)
1–8	exon 1–8 (whole gene) deletion	1	6	(35)