**2.6. Nomenclature and descriptions for variant reporting**

All variants identified were annotated according to Human Genome Variation Society (HGVS) nomenclature for clinical reporting (http://www.hgvs.org). The variant elements included gene name, zygosity, cDNA nomenclature, protein nomenclature, exon number and clinical assertion.

Descriptions of sequence variations were adapted from the American College of Medical Genetics and Genomics (ACMG) recommendations for standards for interpretation and reporting of sequence variations and are listed below [35]:

*Pathogenic:* The sequence variation has been reported in the literature and is a recognized cause of the disorder.

*Likely pathogenic:* The sequence variation is previously unreported and is of the type that is expected to cause the disorder.

*Variant of uncertain significance (VUS)*: The sequence variation is previously unreported and is of the type which may or may not be causative of the disorder*.*

*Likely non-pathogenic*: The sequence variation is previously unreported and is probably not causative of disease.

*Non-pathogenic*: The sequence variation is previously reported and is a recognized neutral variant.
