SLOS	Smith-Lemli-Opitz syndrome
DHCR7	7-dehydroxycholesterol reductase
ER	Endoplasmic reticulum
ExAC	Exome Aggregation Consortium
PD	Property distance
ECS	Evolutional conservation score
RMSD	Root mean square deviation
RMSF	Root mean square fluctuation
SASA	Solvent accessible surface area
rSASA	Relative solvent accessible surface area
KNN	K-Nearest Neighbors
MD	Molecules dynamics
CL	Cytosol loops
TM	Transmembrane domain
ESP	Exome Sequencing Project