Fig. 1

Compound heterozygous mutation identified at the ERCC2 locus in XP40OS cells. a Integrated genome browser view. b Scheme of the exon 21 and 22 of the ERCC2 gene alleles with the compound heterozygous mutations. It consisted of a single-nucleotide substitution at 5′ end of an exon and a 23-bp deletion at 3′ end of its immediate upstream exon. Because the distance of the two was less than 200 bp that was strode by a number of single read pairs, the compound heterozygosity was readily revealed. c Mutation frequency and functional prediction of the mutation and deletion in the ERCC2 gene alleles with the ANNOVAR program