The absence of mutations in NOTCH1, SGCE, WDR88, MAST3, PCDH15, and COL6A3 in the primary leukemias (P1INI, P5INI, P10INI, P10REL, and P12REL) was validated by Sanger sequencing as shown in Appendix Fig S5B. The gene discussed is COL6A3; the disease is leukemia.