Table 2B.

Overview on algorithms used for the validation and interpretation of genetic variants

Algorithm	URL	Description
Align GVGD	agvgd.hci.utah.edu	Free web-based program for classification of missense variants
SIFT	sift.bii.a-star.edu.sg	Free web-based program for prediction of missense variant effect on protein function
MutationTaster	www.mutationtaster.org	Free web-based program for prediction of disease-causing potential of DNA variants
PolyPhen-2	genetics.bwh.harvard.edu	Free web-based program for prediction of missense variant effect on protein structure and function
Provean	provean.jcvi.org	Free web-based program for prediction of missense and indel variant effect on protein function
FATHMM	fathmm.biocompute.org.uk	Free web-based program for prediction of functional consequences of coding and non-coding variants