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Table 1 Candidate variants of WES study after filtering and visual inspection

From: Impairment in dynein-mediated nuclear translocation by BICD2 C-terminal truncation leads to neuronal migration defect and human brain malformation

Chr Start Ref Alt Gene Name (Ref Seq) Mutation Type Amino Acid Change PROVEAN Polyphen2 Mutation Taster CADD Inheritance
3 44,489,313 C A ZNF445 (NM_181489) Heterozygous Missense c.G1850T:p.R617M D D D 31 Inherited
8 48,883,365 G A MCM4 (NM_005914) Heterozygous Missense c.G1729A:p.D577N D D D 33 Inherited
9 95,477,681 T A BICD2 (NM_001003800) Heterozygous Nonsense c.A2323T:p.K775X . . A 40 De novo
14 20,943,038 T C PNP (NM_000270) Heterozygous Missense c.T392C:p.L131P D D D 29.2 Inherited