TABLE 2.
Novel and rare non-synonymous variants in the coding sequence of CLDN1-25.
| Gene | Accession number | Nucleotide change | Amino acid change | Fluidigm allele frequency | Fluidigm read depth | Allele frequency count/(%) NTD cases | Allele frequency count/(%) gnomAD | Allele frequency count/(%) EVS | Ethnicity |
| CLDN3 | NG_012023.1 | c.382G > A | p.A128T | N/A | N/A | 3 (1.0) | 0 (0) | 0 (0) | European |
| c.401C > T | p.P134L | N/A | N/A | 2 (0.7) | 1253 (0.4519) | 63 (0.484) | European | ||
| c.620G > C | p.G207A | N/A | N/A | 1 (0.3) | 0 (0) | 0 (0) | European | ||
| CLDN4 | NG_012868.1 | c.250G > A | p.V84I | 49% | 48282 | 1 (0.3) | 6 (0.002388) | 1 (0.0077) | European |
| CLDN6 | NC_000016.9 | c.626G > A | p.R209Q | 54%; 53% | 543; 4993 | 2 (0.7) | 299 (0.1406) | 20 (0.1539) | European, Hispanic |
| CLDN8 | NG_050758.1 | c.647C > T | p.P216L | 55% | 1293 | 1 (0.3) | 906 (0.3204) | 151 (1.161) | African |
| CLDN9 | NC_000016.9 | c.8C > T | p.S3L | 48% | 844 | 1 (0.3) | 311 (0.1114) | 3 (0.0231) | European |
| CLDN16 | NG_008149.1 | c.668A > G | p.N223S | 40% | 50 | 1 (0.3) | 90 (0.03181) | 3 (0.0231) | European |
| CLDN18 | NC_000003.11 | c.262G > A | p.V88I | 51%; 50% | 35; 1077 | 2 (0.7) | 568 (0.2009) | 22 (0.1692) | European |
| CLDN19 | NG_008993.1 | c.65T > C | p.I22T | 50% | 3067 | 1 (0.3) | 117 (0.05170) | 8 (0.0616) | European |
| c.626A > G | p.E209G | 43% | 2407 | 1 (0.3) | 17 (0.007741) | 0 (0) | European | ||
| CLDN23 | NC_000008.10 | c.268G > A | p.A90T | 57% | 54 | 1 (0.3) | 1225 (0.4753) | 59 (0.4624) | European |
| CLDN24 | NG_051586.1 | c.280G > C | p.G94R | 52% | 787 | 1 (0.3) | 0 (0) | N/A | European |
| c.481G > A | p.E161K | 32% | 964 | 1 (0.3) | 1 (0.0004875) | N/A | European | ||
| c.529C > A | p.L177M | 40% | 1762 | 1 (0.3) | 0 (0) | N/A | European |