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Table 2 List of cases with the possible causal genetic variant(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
PRE003 PACS1 ventriculomegaly; small cavum septum pellucidum c.2413G>A:p.(Ala805Thr) 1.06E-04 maternal 4.94 16.64 Polymorphism Neutral Tolerated
PRE004 EEF1A2 multiple congenital abnormalities c.862G>A:p.(Glu288Lys) not reported de novo 3.8199 28.1 Disease causing Damaging Damaging
PRE010 DIS3L2 microophthalmia; agenesis of corpus callosum c.410A>G:p.(Tyr137Cys) 6.95E-04 maternal 5.65 11.53 Polymorphism Neutral Tolerated
c.1826G>A:p.(Arg609Gln) 2.05E-05 paternal 5.42 34 Disease causing Neutral Damaging
PRE013 LRP2 agenesis of corpus callosum; cardiac defects c.1593C>A:p.(Ser531Arg) 8.13E-06 maternal 5.7899 23.7 Disease causing Neutral Tolerated
c.10538C>A:p.(Ser3513Tyr) 1.63E-05 paternal 5.96 28,9 Disease causing Damaging Damaging
PRE022 ATRX multiple congenital abnormalities c.1825C>G:p.(Pro609Ala) 1.07E-03 not determined 5.2199 0.004 Polymorphism Neutral Damaging
PRE028 MYH7 cardiac defects c.3803G>A:p.(Arg1268His) 7.31E-05 de novo 4.9899 35 Disease causing Damaging Damaging