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Table 1 List of cases with pathogenic mutation(s) identified by WES

From: Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)

Family number Gene Clinical phenotype mutation site allelic frequency in ExAC parental origin GERP score CADD score MutationTaster PROVEAN SIFT
PRE011 DNAH11 situs inversus; cardiac defects c.13288G>A p.(Gly4430Glu) 8.14E-06 maternal 5.5199 34 Disease causing Damaging Damaging
c.8533_8536delinsATCCG not reported paternal N/A 36 N/A N/A N/A
PRE032 RAF1 multiple congenital abnormalities c.778A>C p.(Trp260Pro) not reported de novo 5.73 23.6 Disease causing Neutral Damaging
PRE033 CHD7 cystic hygroma; pulmonary atresia (PA-IVS) c.2957+1G>A not reported de novo 5.53 25.5 Disease causing N/A N/A