Fig. 1. Aggregation of the acquired mutations identified in our series of patients.

Only patients with one or more acquired or additional germline variant in our series are included. Purple represents mutations with a VAF > 10%; turquoise, VAF < 10%; black, additional germline variants and pink represents karyotypic abnormalities. Abbreviations: AA aplastic anaemia, Ab. L abnormal lymphocyte subsets, AC asymptomatic carrier, AML acute myeloid leukaemia, BMF bone marrow failure, GL germline, L lymphoedema, MDS myelodysplastic syndrome. For further details of somatic mutations in our series refer to Supplementary Table S3.