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Table 2 Genetic variants identified in ABCA4 sequence analysis in CQ-treated patients with (cases) and without (controls) toxic maculopathy

From: Common synonymous variants in ABCA4 are protective for chloroquine induced maculopathy (toxic maculopathy)

   Frequency in   
Variant (NM_000350.2) Amino acid exchange (NP_000341.2) Cases Controls EUR Raw p-value FDR #
c.324G > A M114I 0.00 0.04 - - -
c.635G > A R212H 0.06 0.08 0.06 - -
c.1268A > G* H423R 0.29 0.23 0.30 0.58783 0.58783
c.1269C > T H423H 0.13 0.04 0.07 - -
c.1622T > C L541P 0.02 0.00 - - -
c.2588G > C G863A 0.00 0.04 0.00 - -
c.2828G > A R943Q 0.04 0.12 0.04 - -
c.3113C > T A1038V 0.02 0.00 0.00 - -
c.4203C > A P1401P 0.00 0.04 - - -
c.4297G > A V1433I 0.00 0.04 0.00 - -
c.5603A > T N1868I 0.06 0.08 0.07 - -
c.5682G > C* L1894L 0.13 0.38 0.26 0.02292 0.030
c.5814A > G* L1938L 0.06 0.31 0.18 0.00722 0.014
c.5843C > T P1948L 0.04 0.08 0.04 - -
c.5844A > G* P1948P 0.06 0.31 0.19 0.00722 0.014
c.6069T > C I2023I 0.04 0.08 0.06 -  
c.6148G > C V2050L 0.02 0.00 0.00 - -
c.6249C > T I2083I 0.04 0.08 0.05 - -
c.6282 + 7G > A - 0.04 0.08 0.05 - -
c.6285T > C D2095D 0.08 0.15 0.10 - -
c.6357A > G E2119E 0.02 0.00 - - -
c.6730-3T > C - 0.02 0.12 0.02 - -
c.6764G > T S2255I 0.02 0.12 0.02 - -
  1. *Common variants (combined frequency in cases and controls > 11.6%).
  2. Frequency in 267 European individuals obtained from the 1000 Genomes Project.
  3. #False discovery rate.