Family Patient ID GENE Transcript Nucleotide change AA change Variant Classification# VAF (%)
Family1 ID1 CEBPA NM_004364.4 c.62delG p.S21Tfs*139 Likely Pathogenic 51.97
ID2 CEBPA NM_004364.4 c.62delG p.S21Tfs*139 Likely Pathogenic 50.84
Family2 ID3 DDX41 NM_016222.4 c.1174_1175delAA p.K392Afs*66 VUS 51.66
ID4 DDX41 NM_016222.4 c.1174_1175delAA p.K392Afs*66 VUS 48.64
Family3 ID5 LYST NM_001301365.1 c.10193G>A p.R3398Q VUS 51.83
ID6 LYST NM_001301365.1 c.10193G>A p.R3398Q VUS 51.96
Family4
ID7
FANCA
NM_000135.4
c.2574C>G
p.S858R
VUS (Pathogenic in FAMutdb)
42.39
JAK2 NM_004972.4 c.1711G>A p.G571S VUS 47.95
ERBB4 NM_005235.3 c.3838G>C p.E1280Q VUS 49.79
ID8
FANCA
NM_000135.4
c.2574C>G
p.S858R
VUS (Pathogenic in FAMutdb)
45.15
JAK2 NM_004972.4 c.1711G>A p.G571S VUS 47.95
ERBB4 NM_005235.3 c.3838G>C p.E1280Q VUS 48.41