ACMG/AMP	American College of Medical Genetics and Genomics/Association
DNA	Deoxyribonucleic acid
FINCA	Fibrosis, neuro-degeneration, cerebral angiomatosis syndrome
GATK	Genome Analysis Toolkit
GDB	The Russian Genetic Diversity Database
gnomAD	Genome Aggregation Database
GRCh38	Genome Reference Consortium Human Build 38
GTEx	Genotype-Tissue Expression portal
MANE	Matched annotation from NCBI and EMBL-EBI
mRNA	Messenger ribonucleic acid
OMIM	Online Mendelian Inheritance in Man
PBMC	Peripheral blood mononuclear cell
PCR	Polymerase chain reaction
RNA-seq	Ribonucleic acid sequencing
RT-PCR	Reverse transcription polymerase chain reaction
TPM	Transcripts per million
WGS	Whole-genome sequencing