Table 1. Synonymous and non-synonymous mutations identified through direct sequencing of 1126 cases with CHD and 1227 controls.
| Variation | Protein | Cases | Controls | Diagnosis |
| Non-Synonymous, Unique | ||||
| c.559G>A | p.Ala187Thr | 1 | 0 | PS |
| c.497C>A | p.Thr166Asn | 1 | 0 | TGA |
| c.274A>G | p.Arg92Gly | 1 | 0 | ASD |
| c.185A>G | p.Asn62Ser | 1 | 0 | TOF |
| c.538-561del | p.Gly180_Ala187del | 1 | 0 | AVSD |
| c.107C>G | p.Pro36Arg | 0 | 1 | Control |
| c.120G>C | p.Gln40His | 0 | 1 | Control |
| Synonymous, Unique | ||||
| c.762T>C | p.Asp254Asp | 1 | 0 | Ebstein,VSD |
| c.612C>T | p.Ser204Ser | 1 | 0 | TGA |
| c.471C>T | p.Asn157Asn | 1 | 0 | ASD |
| c.381C>T | p.His127His | 1 | 0 | TOF |
| c.276G>A | p.Arg92Arg | 1 | 0 | VSD |
| c.117C>T | p.His39His | 0 | 1 | Control |
| c.120G>A | p.Gln40Gln | 0 | 1 | Control |
| Both | ||||
| c.115-117delCAC | p.His39del | 10 | 1 | |
| c.479A>T | p.His160Leu | 11 | 9 | |
| c.582C>T | p.Gly194Gly | 7 | 13 | |
| c.21C>A | p.Ala7Ala | 306 | 336 | |
| c.580-585delGGCGGC | p.Gly194_Gly195del | 6 | 10 | |
5 unique non-synonymous variants are observed in the cases and 2 in the control group. Abbreviations: PS, pulmonic stenosis; TGA, transposition of great arteries; ASD, atrial septal defect; TOF, Tetralogy of Fallot; AVSD, atrioventricular septal defect; VSD, ventricular septal defect.