Table 2.

PRSS1, SPINK1, CFTR and CTRC gene mutations in the patients with ICP

Gene mutations	Region	Functional class	Positive, n (%)
PRSS1
A16V	Exon 2	Missense	0
N29I	Exon 2	Missense	1 (1.3)
E79K	Exon 3	Missense	0
R116C	Exon 3	Missense	0
A121T	Exon 3	Missense	0
R122H or R122C	Exon 3	Missense	6 (8.0)*
SPINK1
N34S	Exon 3	Missense	0
IVS3+2T>C	IVS 3	Splicing	43 (57.3)†
CFTR
R117H	Exon 4	Missense	0‡
F508del	Exon 11	Del	0
c.2562T>G	Exon 15	Nonsense	51 (68.0)§
c.4389G>A	Exon 27	Nonsense	1 (1.3)
CTRC
c.143A>G	Exon 3	Missense	0
c.180C>T	Exon 3	Nonsense	0
c.217G>A	Exon 3	Missense	0
c.703G>A	Exon 7	Missense	0
c.760C>T	Exon 7	Missense	0
p.K247_R254del	Exon 7	Del	0
CLDN2
c.22G>A	Exon 1	Nonsense	2
c.327A>T	Exon 2	Nonsense	1
c.592A>C	Exon 2	Missense	1
c.768T>C	Exon 2	Nonsense	22

*One was c.364 C>T and other five were c.365 G>A.

†Thirty-three were heterozygous and 10 were homozygous.

‡One patient has the deletions of GCTTCCTA from c.500 to c.508.

§Thirty-seven were heterozygous and 14 were homozygous.