Table 2.

Summary¹ of the polymorphisms in genes related to pancreatitis

Name of the gene	Chromosome	No. of splice variants	Length (bp) of exon region	No. of exons
CTRC	1	4	898	8
CASR	3	4	5009	7
PRSS1	7	6	800	5
CTSB	8	35	3875	10
SPINK1	5	3	542	4
CFTR	7	11	6128	27
CLDN2	X	3	3150	2

¹Extracted from ENSEMBL. Upstream Gene variants: A sequence variant located 5’ of a gene. Downstream gene variants: A sequence variant located 3’ of a gene. Non-coding exon variants: A sequence variant that changes non-coding exon sequence. Synonymous variants: There is no change in the resulting aminoacid. Missense variants: Variant that changes one or more bases, resulting in a different aminoacid but where the length is preserved. Stop gained: Sequence variant whereby at least one base of a codon is changed, resulting in premature stop codon, leading to a shortened transcript. Intron variants: a variant occurring within an intron. CTRC: Chymotrypsin C; CASR: Calcium sensing Receptor; PRSS1: Trypsinogen Gene; CTSB: Cathepsin B; SPINK1: Serine protease inhibitor kazal type 1; CFTR: Cystic fibrosis transmembrane conductance regulator; CLDN2: Claudin 2.