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