PMC

(a) The published unidirectional trace showing the c.1934dupG p.Gly646TrpsfsX12 variant with tumor and matched normal DNA from an myeloproliferative neoplasm (MPN), chronic myelomonocytic leukemia (CMML) and myelodysplastic syndrome sample showing the variant present in every trace. (b) Sequenom mass spectrometry detection of PCR products showing clear peaks for both wild-type and c.1934dupG; p.Gly646TrpsfsX12 variant in a paired CMML and MPN sample different from the samples shown in Figure 1a. (c) Bidirectional traces from two normal healthy individuals showing the c.1934dupG; p.Gly646TrpsfsX12 variant as further evidence that this variant does not represent a somatic mutation.