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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