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Table 3 Comparison of allele frequencies of variants in our HTG population and 1000 Genomes project

From: Frequency of rare mutations and common genetic variations in severe hypertriglyceridemia in the general population of Spain

Gene Nucleotide change Predicted aminoacid change Frequency in HTG population Frequency in the population 1000 Genomes p Bioinformatic Analysis
LPL c.106G > A p.(Asp36Asn) 0.055 0.013 0.001 Benign
  c.−281T > G   0.062 0.013 <0.001 Damage
LMF1 c.205C > T p. (Leu69Leu) 0.007 0.0001 0.017 Damage
  c.288 + 298C > T   0.007 0.394 <0.001 Benign
APOA5 C.−3 A > G   0.185 0.080 <0.001 Benign
  c.56C > T p.(Ser19Trp) 0.185 0.057 <0.001 Damage
  c.132C > A p.(Ile44Ile) 0.178 0.056 <0.001 Benign
  c.162-43A > G   0.134 0.080 0.040 Benign
GPIHBP1 c.−509 G > A   0.164 0.442 <0.001 Unknown
  c. −208 G > C   0.240 0.443 <0.001 Unknown
  c.138G > T p.(Val46Val) 0.281 0.443 0.0003 Benign
  c.295 + 19G > A   0.007 0.000 0.0226 Benign
  c.295 + 28G > A   0.007 0.000 0.0226 Benign
APOC2 c.−116T > A   0.50 0.376 0.004 Benign
  c.−89C > G   0.027 0.009 0.048 Benign
  c.56–30G > A   0.007 0.000 0.008 Benign
  c.216–81T > C   0.344 0.491 0.007 Benign
  1. All variants are described in accordance with the latest recommendations of HGVS (http://www.hgvs.org/mutnomen). The p value was calculated by χ2 test
  2. Prediction of deleterious effects was performed using SIFT (http://sift.jcvi.org/ ), Polyphen-2 (http://genetics.bwh.harvard.edu/pph2/) and MutationTaster (http://www.mutationtaster.org)