Table 4.
Summary of GATA4 sequence variations in blood samples
| Nucleotide change NM_002052 | Coding region | Amino acid change | Location | NCBI dbSNP number | Blood samples CHD | Blood samples normal |
| NONSYNONYMOUS | ||||||
| 1647 | c.1129A>G | p.Ser377Gly | exon 6 | rs3729856 | 10AA:2AG | |
| SYNONYMOUS | ||||||
| 1217 | c.699G>A | p.Thr233 | exon 3 | 1 (GA) | ||
| 3'-UTR | ||||||
| 1967 | c.+119A>T | exon 7 | 2 (AT) | |||
| 3107 | c.+1260G>A | exon 7 | 1 (GA) | |||
| 2201 | c.+354A>C | exon 7 | rs867858 | 3AA:9AC | 53AA:36AC:11CC | |
| 2273 | c.+426C>T | exon 7 | rs1062219 | 1CC:8CT:3TT | 39CC:38CT:23TT | |
| 2364 | c.+517T>C | exon 7 | rs884662 | 4TT:5CT:3CC | 43TT:30CT:27CC | |
| 2379 | c.+532T>C | exon 7 | rs904018 | 1TT:5CT: 6CC | 30TT: 30CT:40CC | |
| 2410 | c.+563C>G | exon 7 | rs12825 | 8CC:3CG:1GG | 69CC:11CG:20GG | |
| 2434 | c.+587A>G | exon 7 | rs804291 | 12GG | 100 GG | |
| 3005 | c.+1158C>T | exon 7 | rs11785481 | 7CC:5CT | ||
| 3103 | c.+1256A>T | exon 7 | rs12458 | 3AA:9AT | ||
| 3202 | c.+1355G>A | exon 7 | rs1062270 | 11GG:1AG | ||
| 3368 | c.+1521G>C | exon 7 | rs3293358 | 5CC:6CG:1GG | ||
| INTRONIC | ||||||
| c.-518-25C>T | intron | 2 (1CT:1TT) | ||||
| c.-458+5A>G | intron | 1 (AG) | ||||
| c.783+16G>A | intron | 1 (GA) | ||||
| c.614-61G>C | intron | rs10503425 | 8GG:3CG:1CC | 27AA:12AC:3CC | ||
| c.997+56A>C | intron | rs804280 | 3AA:7AC:2CC |