Table 1.
GATA4 exonic variants identified among 31 patients with non-syndromic TOF
| Variation ID | Chromosome localisation |
Nucleotide substitution |
Amino acid substitution |
Exon | Mutation type | Patients |
| rs192122549 | 8:11606438 | c.627C>T | Asp209Asp | 2 | Synonymous | P2 |
| Novel | 8:11606498 | c.687G>A | Arg229Arg | 2 | Synonymous | P7 |
| rs55788387 | 8:11606510 | c.699G>A | Thr233Thr | 2 | Synonymous | P21 |
| rs3729855 | 8:11614502 | c.1056C>T | Asn352Asn | 5 | Synonymous | P6 |
| rs112435835 | 8:11614559 | c.1113A>G | Ser371Ser | 5 | Synonymous | P6 |
| rs3729856 | 8:11614575 | c.1129A>G | Ser377Gly | 5 | Missense | P2, P4, P8, P10, P11 |
| rs114868912 | 8:11614584 | c.1138G>A | Val380Met | 5 | Missense | P4 |