Identification of de novo mutations in CFD trios
| Sample | Gene | Exonic_Function | AAChange | SIFT | Prediction | PolyPhen2 | Prediction |
| CFD6A | ATP1A1 | Non-synonymous SNV | NM_000701:c.G1579A:p.E527K | 0.04 | D | 0.002 | B |
| CFD7A | SGK223 | Non-synonymous SNV | NM_001080826:c.A308C:p.N103T | 0.01 | D | 0.003 | B |
| CFD8A | RGPD2 | Startloss SNV | NM_001078170:c.T2C:p.M1T | / | / | / | / |
| CFD4A | SLC5A9 | Non-synonymous SNV | NM_001011547:c.A1979G:p.H660R | 0.45 | T | 0 | B |
| CFD4A | SLC35A2 | Non-synonymous SNV | NM_001042498:c.G991A:p.V331I | 0 | D | 0.997 | D |
| CFD9A | ABCA12 | Non-synonymous SNV | NM_015657:c.G3539C:p.R1180T | 0 | D | 0.997 | D |
| CFD12A | AKAP12 | Non-synonymous SNV | NM_144497:c.C2957T:p.S986L | 0.25 | T | 0 | B |
| CFD1A | CIC | Stopgain SNV | NM_015125:c.C1057T p.R353X | / | / | / | / |
AAChange, amino acid change; B, Benign; CFD, cerebral folate deficiency; D, Damaging; SNV, single nucleotide variant; T, Tolerant.