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Table 5 Detection of variants in fetuses with CHD using WES

From: Estimating the frequency of causal genetic variants in foetuses with congenital heart defects: a Chinese cohort study

Case Ultrasound findings Additional anomalies Gene Nucleotide change Amino acid change Zygosity Clinical classify Inherited mode Disease
#133 RAA GLI3 c.2308delG p.A770fs Het LP AD Pallister-Hall syndrome
#79 AVSD SCN5A c.4357C > T p.Q1453X Het LP AD Brugada syndrome 1
#25 VSD Urinary tract system,Skeletal system NIPBL c.5220delA p.T1740fs Het P AD Cornelia de Lange syndrome 1
#159 IAA, AVSD FOXF1 c.853_854delAT p.Ile285fs Het P AD Persistent fetal circulation syndrome
#170 VSD SCN5A c.362G > A p.Arg121Gln Het P AD Brugada syndrome 1
#166 PA GATA6 c.551G > A p.Ser184Asn Het LP AD Atrial septal defect 9
#62 VSD,d-TGA,TA MYH7 c.4076G > A p.R1359H Het VUS AD
#19 VSD,CA CITED2 c.589A > G p.S197G Het VUS AD
#132 VSD Mild ventriculomegaly NOTCH1 c.7171C > T p.Q2391X Het VUS AD
#161 AS NOTCH1 c.5339_5346dupAGAAGAAG p.Glu1785fs Het VUS AD
#168 VSD COL9A3 c.622G > A p.Gly208Ser Het VUS AD
#171 TOF PRNP c.622C > T p.Arg208Cys Het VUS AD
#192 VSD HDAC c.1 + 1G > A   Het VUS AD
#194 Heterotaxy Cystic hygroma DNAH9 c.1997G > T p.Trp666Leu Het VUS AD
#200 Heterotaxy DNAH9 c.14_34delAGGAGCGGGCCGCGC p.Glu5_Ala11del Het VUS AD
#98 TOF CCD22 c.664C > T p.R222W Het VUS AD
#106 VSD, CA PRKD1 c.2569G > C p.E857Q Het VUS AD
Skeletal system, MYH6 c.4036C > T p.R1346W Het VUS AD
COL5A1 c.2768C > T p.P923L Het VUS AD
#51 HLHS GLI3 c.2587C > T p.R863C Het VUS AD
#101 VSD Thickened nuchal fold SOS2 c.3812C > T p.P1271L Het VUS AD
  1. Het, heterozygous; AD, autosomal dominant; AR, autosomal recessive; LP, likely pathogenic; P, pathogenic; VUS, variants of uncertain significance. VSD, ventricular septal defect; TGA, transposition of the great arteries; CA, coarctation of aorta; RAA, right aortic arch; AVSD, atrioventricular septal defect; TOF, tetralogy of fallot; HLHS, hypoplastic left heart syndrome; IAA, interruption of aortic arch; AS, aortic stenosis; PA, pulmomary stenosis; transposition of the great arteries; CA, coarctation of aorta; RAA, right aortic arch; AVSD, atrioventricular septal defect; TOF, tetralogy of fallot; HLHS, hypoplastic left heart syndrome; IAA, interruption of aortic arch; AS, aortic stenosis; PA, pulmomary stenosis