Table 2.

Summary of all CIC rare mutations identified in gnomAD_freq: data from gnomAD database ‘allele frequency’ (CADD_pred score was calculated from https://cadd.gs.washington.edu/score)

Sample	Gene	Exonic_Function	AAChange	gnomAD_freq	CADD_phred
CFD-4GS-A	CIC	Non-synonymous SNV	NM_015125:c.C4802T:p.P1601L	8.29E–06	23.4
CFD-B36	CIC	Non-synonymous SNV	NM_015125:c.G1738T:p.G580C	3.92E–05	23.9
CFD-1NA	CIC	Stopgain SNV	NM_015125:c.C1057T:p.R353X	0	28.8
CFD-1SG	CIC	Frameshift Insertion	NM_015125:c.1008_1009InsTG:p.G337GfsX40	0	/

AAChange, amino acid change.