Table 2

- Nonsynonymous single nucleotide variants in the RPL5 genes.

VariantsSubstitutionTranscript IDdb SNP (b153 v2)Variation type1000 genomes allele frequencyPosition
rs138979590G>C
G>T
NG_011779.2NovelSNV, intronnot presentchr1:92833927
rs558220259A>GNG_011779.2NovelSNV, intronnot presentchr1:92833948
rs576892621A>GNG_011779.2NovelSNV, intronnot presentchr1:92833969
rs182018447G>ANG_011779.2NovelSNV, intronnot presentchr1:92834024
rs559377519A>TNG_011779.2NovelSNV, intronnot presentchr1:92834047
  • Ch1: chromosome 1, SNV: single nucleotide variant, SNP: single nucleotide polymorphism.