Overall, 14% of the designed amplicons did not pass QC (due to insufficient coverage and/or mapping error), which included those targeting candidate PAE mutations such as eight mutational hotspots in FGFR3, six in PTPN11, one in RET, and other key hotspots in SKI (Shprintzen-Goldberg syndrome), SETBP1 (Schinzel-Giedion syndrome), and AKT1 (Proteus syndrome, oncogenesis). The gene discussed is SETBP1; the disease is Schinzel-Giedion syndrome.