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Table 1 Mutation findings for 30 patients with T-OPLL by WGS

From: Association of IL17RC and COL6A1 genetic polymorphisms with susceptibility to ossification of the thoracic posterior longitudinal ligament in Chinese patients

Gene SNP ID Chromosome Nucleotide change Protein change 1000G (EAS) SIFT PP2 MutationTaster GERR++
COL6A1 rs201153092 21 c.1534G>A p.Gly512Ser 0 D D D R
COL6A1 rs13051496 21 c.2669C>T p.Ser890Leu 0 T B D R
COL6A1 rs151158105 21 c.1298G>A p.Arg433Gln 0 D B N R
IL17RC rs199772854 3 c.2275C>A p.Leu759Ile 0 D D N R
IL17RC rs76999397 3 c.1908G>A p.Ala636Ala 0.00378 D B N R
IL17RC rs189013166 3 c.2238G>A p.Gly746Gly 0 D B N R
  1. 1000G (EAS), 1000 Genomes (Asian); SIFT (D deleterious, T tolerated); PP2, Polyphen-2 (D probably damaging, P possibly damaging, B benign); MutationTaster (D disease causing, N polymorphism); GERP++ (R rejected substitutions, S substitutions)