Family Patient ID GENE Transcript Nucleotide change AA change Variant Classification# VAF (%)
Family1 ID1 None / / / / /
ID2 NA / / / / /
Family2 ID3 DDX41 NM_016222.4 c.1574G>A p.R525H Pathogenic 7.95
JAK2 NM_004972.3 c.1849G>T &p.V617F Pathogenic 3.56
DNMT3A NM_175629.2 c.2330C>A p.P777H Likely pathogenic 10.58
ID4 NA / / / / /
Family3 ID5 ASXL1 NM_015338.6 c.1249C>T &p.R417* Pathogenic 13.88
RAD50 NM_005732.4 c.2801delA p.N934Ifs*6 Pathogenic 13.16
TET2 NM_001127208.2 c.5163delG &p.L1721Ffs*24 Likely pathogenic 17.83
IGFN1 NM_001164586.2 c.6746A>G p.D2249G VUS 12.64
ID6 IDH2 NM_002168.4 c.515G>A p.R172K Pathogenic 36.86
Family4 ID7 SF3B1 NM_012433.3 c.2098A>G &p.K700E Pathogenic 34.19
TET2 NM_001127208.2 c.1696G>T &p.E566* Likely pathogenic 29.56
ETV6 NM_001987.4 c.472_473delGT &p.V158Pfs*10 Likely pathogenic 16.59
GATA2 NM_032638.4 c.968A>C p.H323P VUS 31.71
FGFR3 NM_000142.4 c.1900G>A p.A634T VUS 5.35
BRCA2 NM_000059.3 c.4634T>C p.L1545P VUS 5.09
ID8 SF3B1 NM_012433.3 c.2098A>G p.K700E Pathogenic 31.74
IDH2 NM_002168.3 c.419G>A &p.R140Q Pathogenic 11.64
IDH1 NM_005896.3 c.395G>A p.R132H Pathogenic 2.38