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Table 1 Summary of the filtering to narrow down the candidates for the causal variant

From: Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia

Criteria for the filtering Number of remaining variants
Coding variants 19, 215
Not in dbSNP130 2, 015
Not in eight HapMap exomes [12] 1, 833
Not in in-house data of a healthy Japanese individual 1, 336
Functional (missense, nonsense, frameshift and splice site) 592
In run-of-homozygosity regions 35 (in 33 genes)
  1. The filtering was performed using the listed criteria in descending order.