TABLE 1.
Common non-synonymous variants in the coding sequence of CLDN1-25.
| Gene | Accession | Nucleotide | Amino acid | Allele frequency count/ | Allele frequency count/ | Allele frequency |
| number | change | change | (%) NTD cases | (%) gnomAD | count/(%) EVS | |
| CLDN6 | NC_000016.9 | c.388G > C | p.V130L | 1 (0.33) | 3938 (1.396) | 161 (1.2388) |
| c.427A > G | p.I143V | 126 (41.45) | 101902 (36.36) | 5010 (38.5741) | ||
| CLDN7 | NC_000017.10 | c.590T > C | p.V197A | 212 (69.74) | 185318 (65.8) | 3944 (30.3245) |
| CLDN8 | NG_050758.1 | c.290T > C | p.M97T | 1 (0.33) | 1608 (0.5687) | 229 (1.7607) |
| c.385A > G | p.T129A | 20 (6.57) | 14671 (5.192) | 1103 (8.4807) | ||
| c.451T > C | p.S151P | 76 (25) | 84042 (29.83) | 8008 (38.4284) | ||
| CLDN14 | NC_000021.8 | c.11C > T | p.T4M | 14 (4.60) | 4972 (2.738) | 402 (4.3946) |
| CLDN16 | NG_008149.1 | c.C166del | p.A56LfsTer16 | 116 (38.16) | 54308 (19.24) | 0 (0) |
| c.166C > G | p.A56P | 116 (38.16) | 54311 (19.24) | 0 (0) | ||
| CLDN17 | NC_000021.8 | c.244G > A | p.A82T | 31 (10.20) | 26892 (9.437) | 892 (6.8584) |
| CLDN18 | NC_000003.11 | c.445A > T | p.M149L | 19 (6.25) | 32284 (11.42) | 1398 (10.7489) |
| CLDN19 | NG_008993.1 | c.599G > A | p.R200Q | 2 (0.66) | 3396 (1.508) | 148 (1.1422) |
| CLDN20 | NG_027528.2 | c.281G > A | p.G94E | 2 (0.66) | 3977 (1.406) | 119 (0.915) |
| CLDN23 | NC_000008.10 | c.628G > A | p.V210M | 28 (9.21) | 26931 (13.32) | 941 (7.8521) |
| CLDN24 | NG_051586.1 | c.52C > T | p.L18F | 222 (73.03) | 208872 (76.22) | N/A |
| c.391A > G | p.I131V | 2 (0.66) | 3227 (1.163) | N/A | ||
| c.621G > C | p.Q207H | 55 (18.09) | 43187 (23.47) | N/A |