Table 3 Non‐synonymous sequence variants.
| Nucleotide | Amino acid | Obs (n) | Patient | Family history of CHD | Mother | Father | Conserved in mouse and rat | SIFT | Poly‐Phen | Other congenital anomalies |
|---|---|---|---|---|---|---|---|---|---|---|
| c.278G→C | Gly93Ala | 1 | 2° ASD | No | Carrier | NA | Yes | T | B | – |
| c.946C→G | Gln316Glu | 1 | 2° ASD | Unknown | NA | NA | Yes | NT | PD | + |
| c.1232C→T* | Ala411Val | 1 | VSD | No | NA | NA | Yes | T | B | – |
| c.1273G→A | Asp425Asn | 2 | 2° ASD | No | Carrier | No | Yes | NT | PD | – |
| TOF | Possible† | NA | NA | – |
2° ASD, secundum atreial septal defect; AA, amino acid; B, benign; NA, not available; NT, not tolerated; Obs, observations; PD, possibly damaging; PolyPhen, prediction of functional effect of human non‐synonymous single nucleotide polymorphisms; SIFT, Sorting Intolerant From Tolerant; T, tolerated; TOF, tetralogy of Fallot with pulmonary valve stenosis; VSD, perimembranous ventral septal defect.
*Previously observed in a patient with cardiac hypertrophy.20
†See Results section for details.