Fig. 2.

PMS2 variants detected with NGS. IGV printout of the PMS2 c.955 C > A, p.(P319T) shown (left) and the corresponding reads aligned to the PMS2CL gene (variant absent). Arrows show the location of three PSVs present in the amplicon (1. c.934 A > G, 2. c.932 A > G and 3. c.924 G > C). All three are absent in the PMS2 reads, while present in the PMS2CL reads. PMS2 is shown in reverse complement, because PMS2 is translated on the reverse strand