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Table 2 Clinical information and MMP21 variant characteristics in HTX patients with complex cardiac malformations

From: De novo disruptive heterozygous MMP21 variants are potential predisposing genetic risk factors in Chinese Han heterotaxy children

Patient ID Gender Age (year) Diagnosis of HTX Diagnosis of cardiovascular malformation Base change Amino acid change SIFT Mutation taster PolyPhe2 _HDIV 1000 Genomes allele frequency gnomAD allele frequency
P58 F 3 Dextrocardia TGA/VSD/PS c.G731A p. G244E 0.007 (D) 1.0 (DC) 0.995 (D)
P7 F 1 Dextrocardia/RAI/CSS PLSVC/SA/SV/TAPVC/PS/RAA c.C829T p. L277F 0.003 (D) 1.0 (DC) 0.997 (D)
P61 M 10 RAI/CSS PAD/AVSD/SV c.A1459G p. K487E 0.011 (D) 0.01 (N) 0.849 (P) 0.00005915
  1. F female; M male; RAI right atrial isomerism; CSS cardiosplenic syndrome; TGA transposition of great arteries; VSD ventricular septal defect; PS pulmonary stenosis; PLSVC persistent left superior vena cava; SA single atrium; SV single ventricle; TAPVC total anomalous pulmonary venous connection; RAA right aortic arch; PAD pulmonary artery dysplasia; AVSD atrioventricular septal defect; D damaging; DC disease causing; N polymorphism; P possibly damaging