Table 1.
NKX2-5 variants identified among 32 patients with secundum atrial septal defect
| Variation ID | Chromosome localization | Nucleotide substitution | Amino acid substitution | Exon/Intron | Variant type | Patients | Frequency (%) |
|---|---|---|---|---|---|---|---|
| rs2277923 | 5:172662024 | c.63A>G | E21= | Exon 1 | SNP | 18 patients | 56.25 |
| rs28936670 | 5:172662014 | c.73C>T | R25C | Exon 1 | Missense | P1, P2, P3 | 9.4 |
| rs151314714 | 5:172661973 | c.114G>A | E38= | Exon 1 | Synonymous | P3 | 3.13 |
| Novel variation | 5:172660281 | c.335-69T>C | – | Intron 1 | SNP | P1 | 3.13 |
| rs77612903 | 5:172659686 | c.861C>T | A287= | Exon 2 | Synonymous | P4 | 3.13 |
SNP - single-nucleotide polymorphism