Table 4

Summary of variants identified in genes in different DNA repair pathways

PathwayNo. of genesNo. of variantsVariants/gene (range)Allele frequency (average)
BER12490–100.033
NER13400–90.061
DSB/RR8220–50.054
MMR4286–80.038
Damage recognition and cell cycle checkpoint5151–50.02
Totala37133
 Average3.60.047
  • a LIG1, POLD1, POLD2, and PCNA have functions in both the BER and the NER pathways. LIG3 functions in both BER and DSB/RR. These genes are counted in both pathways in the Table. The total is the number of different genes resequenced and the number of unique variants identified. The count includes both the protein truncation and the amino acid substitution variants.