Table 1.
SNV, indel and CNV detection in patients with known causal mutation(s).
Table 2.
Number of reads, average read depth, coverage and specificity values per. patient.
Figure 1.
CNV plot showing detected copy number alterations in RAG1 (patient 534, panel A) and XIAP (patient 523, panel B).
Table 3.
Mutations detected in patients with unknown disease causing variant.