Table 2. Exome sequencing results in the multiplex ET family.

Chr.	Gene	Nucl. change	AA change	*dbNSFP	**CADD	PolyPhen	SIFT
11	TUB	c.1126G>A	p.Val431Ile	Deleterious	22.7	Possibly Damaging	Tolerated

* dbNSFP Functional Predictions and Scores 3.0, GHI [24]. Pathogenic computational verdict because 8 pathogenic predictions from DANN, GERP, dbNSFP.FATHMM, LRT, MetaLR, MetaSVM, MutationAssessor and MutationTaster (vs 1 benign prediction from PROVEAN).

** Combined Annotation Dependent Depletion.