Web Resources
The URLs for data presented herein are as follows:
Ensembl (release 100): https://www.ensembl.org/index.html
Ensembl VEP:
https://www.ensembl.org/info/docs/tools/vep/index.html
GnomAD v2.1.1: https://gnomad.broadinstitute.org/
GTEx: https://www.gtexportal.org/home/
The Genotype-Tissue Expression (GTEx) Project was supported by the
Common Fund of the Office of the Director of the National Institutes of
Health, and by NCI, NHGRI, NHLBI, NIDA, NIMH, and NINDS. The data used
for the analyses described in this manuscript were obtained from: the
GTEx Portal on 15/02/2020.
HGMD®: http://www.hgmd.cf.ac.uk/ac/index.php
NCBI ClinVar: https://www.ncbi.nlm.nih.gov/clinvar/
NCBI Primer-BLAST:
https://www.ncbi.nlm.nih.gov/tools/primer-blast/index.cgi
ProteinPaint: https://pecan.stjude.cloud/proteinpaint (Zhou et
al., 2016)
PubMed: https://pubmed.ncbi.nlm.nih.gov/
SMART: http://smart.embl-heidelberg.de/
Varsome®: https://varsome.com/
Online Mendelian Inheritance in Man, OMIM®. McKusick-Nathans Institute
of Genetic Medicine, Johns Hopkins University (Baltimore, MD), (Hamosh,
Scott, Amberger, Valle, & McKusick, 2000). World Wide Web URL:
https://omim.org/