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Table 2 Pedigree investigation information

From: Pedigree investigation, clinical characteristics, and prognosis analysis of haematological disease patients with germline TET2 mutation

Family No. Patient No. diagnosis symptoms co-mutate genes Carriers of germline TET2 mutations in lineage relatives Same mutation or not carriers’ symptoms carriers’ sample Family
history
F1 P1 neutropenia Fever Sister (F 1-II-2) Mother (F 1-I-2) Y Hair/nail
F11 P11 AML-M2 Dizziness nasal bleeding ZRSR2 (GM)KIT (SM) Brother (F 11-II-4) Son (F 11-III-1) Y Hair/nail/PB
F17 P17 MDS-SLD Dizziness, fever nasal bleeding Father (F 17-I-1) sister (F 17-II-4) Y Hair/nail
F19 P19 MDS-EB2 nasal bleeding TP53 (SM) Brother (F 19-II-3) Y Hair/nail
F22 P22 MDS-EB2 TP53 (SM)ETV6 (SM) Y Hair/nail
F24 P24 MDS-SLD Dizziness, fatigue ZRSR2 (GM) ETV6 (SM) Sister (F 24-II-3) Brother (F24-II-4) Daughter (F 24-III-1) Son (F 24-III-2) Y Hair/nail
F25 P25 AA Dizziness, fatigue ZRSR2 (GM) Sister (F 25-II-3) Y Hair/nail
F28 P28 MDS-MLD Fatigue, dizziness NF1 (GM) Y   Hair/nail
F31 P31 MDS-RAEB2 Dizziness, fatigue ZRSR2 (GM) Sons (F 31-III-1/3) Grandson (F 31-IV-1) Y Hair/nail
  1. Aberration: GM, germline mutation; SM, somatic mutation; PB, peripheral blood. P, patient; F, family; −, none; Y, carriers have the same mutations of germline TET2 as proband patients