Table 1.
Name of the gene | Upstream gene variants | Downstream gene variants | Non-coding exon variants | Synonymous variants | Missense variants | Stop gained | Intron variants |
CTRC | 490 | 430 | 102 | 28 | 57 | 5 | 789 |
CASR | 580 | 732 | 129 | 433 | 1459 | 57 | 4707 |
PRSS1 | 1031 | 1634 | 431 | 126 | 280 | 6 | 637 |
CTSB | 5763 | 11413 | 621 | 682 | 1261 | 10 | 18675 |
SPINK1 | 366 | 252 | 38 | 8 | 37 | 0 | 236 |
CFTR | 1193 | 2377 | 87 | 447 | 2533 | 558 | 13723 |
CLDN2 | 205 | 171 | 0 | 36 | 78 | 0 | 560 |
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.