| Patient | Category | Diagnosis | Tissue samples | NKX 2.5 exon 1A | NKX 2.5 exon 1B | NKX 2.5 exon 2A | NKX 2.5 exon 2B | ||||||||
| AA | Seq var | Zygos | AA | Seq var | Zygos | AA | Seq var | Zygos | AA | Seq var | Zygos | ||||
| 1 | ASD | ASD (secundum) | Blood | Glu21Glu | A63G | het | None | None | None | None | None | None | |||
| ASD rim (1 mm proximity) | Glu21Glu | A63G | het | None | None | None | None | None | None | ||||||
| 2 | ASD | ASD (secundum) | Blood | None | None | None | None | None | None | None | None | ||||
| ASD rim (1 mm proximity) | None | None | None | None | None | None | None | None | |||||||
| 3 | ASD | ASD (secundum) | Blood | None | None | None | None | None | None | None | None | ||||
| ASD rim (1 mm proximity) | None | None | None | None | None | None | None | None | |||||||
| 4 | ASD | ASD (secundum) | Blood | None | None | None | None | None | None | None | None | ||||
| ASD superior rim (1 mm proximity) | None | None | None | None | None | None | None | None | |||||||
| ASD inferior rim (1 mm proximity) | None | None | None | None | None | None | None | None | |||||||
| 5 | ASD | ASD (secundum) | Blood | Glu21Glu | A63G | het | None | None | None | None | None | None | |||
| ASD superior rim (1 mm proximity) | Glu21Glu | A63G | het | None | None | None | None | None | None | ||||||
| ASD inferior rim (1 mm proximity) | Glu21Glu | A63G | het | None | None | None | None | None | None | ||||||
| 6 | ASD | ASD (secundum) | Blood | None | None | None | None | None | None | None | None | ||||
| Superior ASD rim (1 mm proximity) | None | None | None | None | None | None | None | None | |||||||
| Inferior ASD rim (1 mm proximity) | None | None | None | None | None | None | None | None | |||||||
| 7 | ASD | ASD (secundum) | Blood | Gln22Arg | A65G | het | None | None | None | None | None | None | |||
| ASD rim (1 mm proximity) | Gln22Arg | A65G | het | None | None | None | None | None | None | ||||||
| 8 | ASD | ASD (secundum) | Blood | Glu21Glu | A63G | het | None | None | Gln181Gln | G543A | het | None | None | ||
| Superior ASD rim (1 mm proximity) | Glu21Glu | A63G | het | None | None | Gln181Gln | G543A | het | None | None | |||||
| Inferior ASD rim (1 mm proximity) | Glu21Glu | A63G | het | None | None | Gln181Gln | G543A | het | None | None | |||||
| 9 | ASD | ASD (secundum) | Blood | None | None | None | None | None | None | None | None | ||||
| ASD inferior rim (1 mm proximity) | None | None | None | None | None | None | None | None | |||||||
| 10 | ASD | ASD (secundum) | Blood | Glu21Glu | A63G | het | None | None | None | None | None | None | |||
| ASD rim (1 mm proximity) | Glu21Glu | A63G | het | None | None | None | None | None | None | ||||||
| 11 | ASD | ASD (secundum) | Blood | Glu21Glu | A63G | hom | None | None | None | None | None | None | |||
| ASD rim (1 mm proximity) | Glu21Glu | A63G | hom | None | None | None | None | None | None | ||||||
| 12 | ASD | ASD (sinus venosus, PAPVR) | Blood | None | None | None | None | None | None | None | None | ||||
| ASD superior rim (1 mm proximity) | None | None | None | None | None | None | None | None | |||||||
| ASD inferior rim (1 mm proximity) | None | None | None | None | None | None | None | None | |||||||
| 13 | ASD | ASD (secundum, TAPVR) | Blood | Glu21Glu | A63G | het | None | None | None | None | Ala284Ala | C852G | het | ||
| ASD inferior rim (1 mm proximity) | Glu21Glu | A63G | Het | None | None | None | None | Ala284Ala | C852G | het | |||||
| 14 | VSD | VSD (perimembranous, | Blood | Glu21Glu | A63G | hom | None | None | None | None | None | None | |||
| VSD rim (1 mm proximity) | Glu21Glu | A63G | hom | None | None | None | None | None | None | ||||||
| 15 | VSD | VSD (perimembranous) | Blood | None | None | None | None | None | None | None | None | ||||
| VSD rim (1 mm proximity) | None | None | None | None | None | None | None | None | |||||||
| 16 | VSD | VSD (perimembranous) | Blood | Glu21Glu | A63G | het | None | None | None | None | None | None | |||
| VSD rim (1 mm proximity) | Glu21Glu | A63G | het | None | None | None | None | None | None | ||||||
| 17 | VSD | VSD (malalignment, TOF) | Blood | Glu21Glu | A63G | het | None | None | None | None | None | None | |||
| VSD rim (1 mm proximity) | Glu21Glu | A63G | Het | None | None | None | None | None | None | ||||||
| 18 | VSD | VSD (perimembranous, D-TGA, HLH) | Right atrial appendage | Glu21Glu | A63G | hom | None | None | None | None | None | None | |||
| ASD (1 mm proximity) | Glu21Glu | A63G | hom | None | None | None | None | None | None | ||||||
| Anterior VSD rim (1 mm proximity) | Glu21Glu | A63G | hom | None | None | None | None | None | None | ||||||
| Posterior VSD rim (1 mm proximity) | Glu21Glu | A63G | hom | None | None | None | None | None | None | ||||||
| Anterior VSD rim (2–3 mm proximity) | Glu21Glu | A63G | hom | None | None | None | None | None | None | ||||||
| Posterior VSD rim (2–3 mm proximity) | Glu21Glu | A63G | hom | None | None | None | None | None | None | ||||||
| 19 | AVCD | CAVC | Blood | None | None | None | None | None | None | None | None | ||||
| ASD rim (1 mm proximity) | None | None | None | None | None | None | None | None | |||||||
| 20 | AVCD | CAVC | Blood | Glu21Glu | A63G | het | None | None | None | None | None | None | |||
| ASD rim (1 mm proximity) | Glu21Glu | A63G | het | None | None | None | None | None | None | ||||||
| 21 | AVCD | CAVC | Blood | Glu21Glu | A63G | hom | None | None | None | None | None | None | |||
| ASD rim (1 mm proximity) | Glu21Glu | A63G | hom | None | None | None | None | None | None | ||||||
| 22 | AVCD | CAVC | Blood | None | None | None | None | None | None | None | None | ||||
| VSD rim (1 mm proximity) | None | None | None | None | None | None | None | None | |||||||
| 23 | AVCD | CAVC | Blood | Glu21Glu | A63G | het | None | None | None | None | None | None | |||
| ASD rim (1 mm proximity) | Glu21Glu | A63G | het | None | None | None | None | None | None | ||||||
| VSD rim (1 mm proximity) | Glu21Glu | A63G | het | None | None | None | None | None | None | ||||||
| 24 | AVCD | CAVC | Blood | Glu21Glu | A63G | het | None | None | None | None | None | None | |||
| ASD rim (1 mm proximity) | Glu21Glu | A63G | het | None | None | None | None | None | None | ||||||
| VSD rim (1 mm proximity) | Glu21Glu | A63G | het | None | None | None | None | None | None | ||||||
| 25 | AVCD | CAVC | Blood | Glu21Glu | A63G | het | None | None | None | None | None | None | |||
| ASD rim (1 mm proximity) | Glu21Glu | A63G | het | None | None | None | None | None | None | ||||||
| VSD rim (1 mm proximity) | Glu21Glu | A63G | het | None | None | None | None | None | None | ||||||
| 26 | AVCD | CAVC | Blood | None | None | None | None | None | None | None | None | ||||
| ASD rim (1 mm proximity) | None | None | None | None | None | None | None | None | |||||||
| VSD rim (1 mm proximity) | None | None | None | None | None | None | None | None | |||||||
| 27 | AVCD | TAVC | Blood | None | None | None | None | None | None | None | None | ||||
| ASD rim (1 mm proximity) | None | None | None | None | None | None | None | None | |||||||
| 28 | AVCD | TAVC | Blood | Glu21Glu | A63G | het | None | None | None | None | None | None | |||
| ASD rim (1 mm proximity) | Glu21Glu | A63G | het | None | None | None | None | None | None | ||||||
AA, amino acid; ASD, atrial septal defect; AVCD, atrioventricular canal defect; CAVC, complete atrioventricular canal; D-TGA, D-transposition of the great vessels; het, heterozygous; HLH, hypoplastic left ventricle; homo, homozygous; PAPVR, partial anomalous pulmonary venous return; Seq var, sequence variation; TAPVR, total anomalous pulmonary venous return; TAVC, transitional atrioventricular canal; VSD, ventricular septal defect; Zygos, zygosity.