Table 4 Synonymous sequence variants
NucleotideAmino acidObs (n)PatientConserved in mouse and ratESE motif
c.13T→CLeu5Leu1.6TOF/PAYesYes
c.15G→ALeu5Leu1TOF/PAYesNo
c.99G→TAla33Ala1TAYesYes
c.462C→TPhe154Phe22° ASDYesYes
TOF
c.579C→GPro193Pro1SV ASDYesYes
c.699G→A*Thr233Thr4TOF/PAYesYes
VSD
TOF
VSD
c.822C→T*Cys274Cys3TOF/PAYesYes
DORV
VSD
c.1023T→CPro341Pro3TOFYesYes
DORV
TOF
c.1122C→TTyr374Tyr12° ASDYesYes
c.1164G→AAla388Ala1VSDNoNo
  • 2° ASD, secundum atrial septal defect; DORV, double-outlet right ventricle; ESE, exonic splice enhancer; Obs, observations; SV ASD, sinus venosus atrial septal defect; TOF/PA, tetralogy of Fallot with pulmonary valve atresia.

  • *Previously observed in patients with cardiac hypertrophy.20