Table 1.

Mutations found in telomere-related genes

*Patients analyzed by exon amplification and Sanger sequencing

**The prediction shown is a summary of the ones made by the programs SIFT ensemble 66, Polyphen-2 v2.2.2, MutationAssessor, release 2, FATHMM v2.3, CADD v1.3 and dbscSNV1.1.