Identification of novel pathogenic MSH2 mutation and new DNA repair genes variants: investigation of a Tunisian Lynch syndrome family with discordant twins

Table 1 Variants filtering results of targeted DNA repair genes panel for the index case

Filtering conditions procedure	CRCNab3
Filtering conditions procedure	Genes	Variants
Total number	87	268
Variations present for the proband case and absent in his father	60	87
Missense, nonsense, splice-site or frameshift variants	44	48
MAF < 0.1% in the 1000 genome, ExAC	35	37
CADD score ≥ 15	14	15

MAF minor allele frequency, ExAC the Exome Aggregation Consortium, CADD combined annotation dependent depletion

ISSN: 1479-5876