Table 1.

Potentially pathogenic CABLES1 variants identified in patients with Cushing’s disease.

							Control MAF (%)				P value
Patient ID (race/ethnicity)	DNA change (Ref Seq GRCH37/hg19: NM_001100619.2)	Protein change	dbSNP ID	Location in gene	Variant type	MAF among subjects in this study (%)a	ExACb	gnomADb	1000 genomes	NHLBI EVS	MAF vs ExAC	MAF vs gnomAD	MAF vs 1000 genomes	MAF vs NHLBI EVS	In silico prediction
Patient 1 (Caucasian)	c.532G > A	p.E178K	rs200098768	Exon 1	Missense	0.2762	2.8436	0.9898	0.2796	n/a	0.0043c	ns	ns	n/a	Benign
Patient 2 (Caucasian)	c.718C > T	p.L240F	rs79793507	Exon 1	Missense	0.2762	0.0825	0.0783	0.2995	0.2799	ns	ns	ns	ns	Probably damaging
Patient 3d (Hispanic)	c.935G > A	p.G312D	rs774334448	Exon 3	Missense	0.2762	0.0083 (0.0779)	0.0061 (0.0417)	n/a	n/a	0.0324 (ns)	0.0232 (ns)	n/a	n/a	VUS
Patient 4 (Hispanic)	c.1388A > G	p.D463G	NA	Exon 7	Missense	0.2762	n/a	n/a	n/a	n/a	n/a	n/a	n/a	n/a	Probably damaging

MAF, minor allele frequency; n/a, not available; ns, not significant; VUS, variant of uncertain significance.

^aMAF among the screened patients. ^bThe frequency of variants located in the 5′ of the gene might not be accurate in the ExAC and gnomAD databases, as that region is poorly covered in those datasets. ^cMore common in ExAC than in our dataset. ^dPopulation-specific MAF and P value of comparisons provided in parenthesis, when available.