Table 2 NKX2.5 variants detected in non-syndromic tetralogy of Fallot cohort
variant ID | Nucleotide variant | Amino acid variant | Location | Variant type | Patient | Mutation rate (%) |
|---|---|---|---|---|---|---|
rs2277923 | c.63A>G | E21E | Exon 1 | Synonymous | 19 patients | 61 |
rs28936670 | c.73C>T | R25C | Exon 1 | Missense | P10, P11 | 6.45 |