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)

SampleGeneExonic_FunctionAAChangegnomAD_freqCADD_phred
CFD-4GS-ACICNon-synonymous SNVNM_015125:c.C4802T:p.P1601L8.29E–0623.4
CFD-B36CICNon-synonymous SNVNM_015125:c.G1738T:p.G580C3.92E–0523.9
CFD-1NACICStopgain SNVNM_015125:c.C1057T:p.R353X028.8
CFD-1SGCICFrameshift InsertionNM_015125:c.1008_1009InsTG:p.G337GfsX400/

  • AAChange, amino acid change.