Characteristics of variants identified
According to ACMG classification (Richards et al., 2015) 95 pathogenic
or likely pathogenic variants were detected in 85 patients (Table 1).
Remarkably, 48 of the 95 (~50%) variants were not
reported in any of the public databases and were submitted to the
ClinVar database https://www.ncbi.nlm.nih.gov/clinvar/ (Landrum et al.,
2014). The variants comprised 56 (59%) missense, 10 (11%) nonsense, 19
(20%) frameshift, 1 (1%) in-frame deletion, 8 (8%) splice site
variants and 1 (1%) whole exon deletion.