Table 1. List of all NKX2.5 mutations identified in the present study.
| S. No. | dbSNP-ID | Physical position (hg19) | Nucleotide variation | Mutation type | AA change | Observe hetero. | Expected hetero. | P-value: HWE |
|---|---|---|---|---|---|---|---|---|
| 1 | rs703752 | 172659511 | G>T | 3’UTR | - | 0.03 | 0.04875 | 0.003877 |
| 2 | Novel-Intronic | 172659740 | C>G | Intronic | - | 0.155 | 0.143 | 0.612 |
| 3 | CM086533 | 172661873 | G>A | Intronic | - | 0.17 | 0.1556 | 0.3696 |
| 4 | rs2277923 | 172662024 | G>A | Synonymous | E63E | 0 | 0 | 1 |
| 5 | Novel-Exonic | 172662041 | G>A | Missense | D16N | 0 | 0 | 1 |
| 6 | rs3729937 | 172662129 | C>T | Intronic | - | 0.035 | 0.03439 | 1 |
| 7 | rs77083308 | 172662192 | G>A | Intronic | - | 0.09 | 0.08595 | 1 |