Table 1.

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.