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NKX2-5 sequence variations identified in this study.
| Location | Nucleotide | Amino acid | Allele frequency | |
|---|---|---|---|---|
| Patients | Controls | |||
| Exon 1 | c.61G>C | p.E21Q | (0.003) 1/292 | (0.000) 0/1400 |
| Exon 1 | c.63A>G | p.E21E | (0.223) 65/292 | (0.259) 362/1400 |
| Exon 2 | c.538A>G | p.T180A | (0.003) 1/292 | (0.000) 0/1400 |
| Exon 2 | c. 606C>G | p.L202L | (0.021) 6/292 | (0.016) 23/1400 |
