Table 3.

PRSS1, CTRC, SPINK1 and CFTR Mutations Stratified by Age of Recurrent/Chronic Pancreatitis Onset. Reported as number of patients with each mutation or combination of mutations.

PRSS1 Mutations		Onset <6 yr n screened=98	Onset 6–11yr n screened=79	Onset ≥12yr n screened=63
p.R122H		24	11	5
p.N29I		8	3	3
p.K23R		2	0	0
p.R122C		1	1	0
p.A16V		0	0	1
p.A16V, p.R122C		0	0	1
c.592-8C>T, c.592-11C>T		1	0	0
p.D21A		1	0	0
p.C135S		1	0	0
p.R116C		1	0	0
c.592-24C>T		0	1	0
c.293A>G		0	0	1
Unknown/Incomplete		3	4	2
CTRC Mutations		Onset <6 yrn screened=56	Onset 6–11yr n screened=51	Onset ≥12yrn screened=43
p.R254W		3	0	0
p.R254W, p.I64LfsX69		1	0	0
p.V235I		1	0	0
p.G103VfsX31		1	0	0
c.640-12G>A		1	0	0
p.Q178R		0	1	0
p.K247_R254del		0	0	1
Unknown/Incomplete		1	0	0
SPINK1 Mutations		Onset <6 yrn screened=86	Onset 6–11yr n screened=74	Onset ≥12yrn screened=58
p.N34S		3	14	5
p.N34S, p.K66N, c.195-66_65insTTT		1	0	0
c.147A>G		1	0	0
c.194+2T>C		1	0	0
p.R67H		1	1	0
c.194+184T>A		1	0	0
p.I42M		1	0	0
p.N37S		0	2	0
p.L9R		0	1	0
c.53C>T		0	1	0
c.194+184T>A		0	0	1
Unknown/Incomplete		3	3	0
CFTR Mutations a1/a2		Onset <6 yrn screened=89	Onset 6–11yr n screened=83	Onset ≥12yrn screened=64
p.F508del		4	1	4
p.F508del	p.G85E	1	1
p.F508del	p.I807M	1
p.F508del	p.R237P	1
p.F508del	p.R117H	1		1
p.F508del	p.L997F	1	1	1
p.F508del	p.R347P		1
p.F508del	c.3717G>A		1
p.F508del	p.R1162I		1
p.F508del	p.V456A			1
p.F508del	c.2657+5G>A			1
p.L333F	p.S1235R	1
p.S1235R		3	2	1
p.S1235R	p.W1282X		1
p.W1282X			1
p.R297Q	c.1210−12[5]	1
c.1210−12[5]			1	1
p.L1139V		1
p.L1139V	p.L206W	1
p.L967S		1
p.M470V	p.M470V	1
p.M470V				1
p.G1069R		1
c.861delT		1
p.V11L		1
p.L227R			1
c.164+28A>G			1
p.H139L	c.1550delG		1
p.D1152H			2
p.R117H			1
p.R140H			1
c.535C>A			1
p.R21C	p.R117C		1
p.R668C	p.G576A		1
p.L88IfsX22	c.3123G>C			1
p.R1162L				1
p.A561T				1
p.S895N				1
p.S912X				1
p.G567A				1
Unknown		5	3	5