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. 2022 Aug 18;140(7):716–755. doi: 10.1182/blood.2021015135

Table 1.

Molecular and cytogenetic profiles of 205 individuals with DDX41 variants

Patient Diagnosis gl DDX41 gl DDX41 VAF Tier s DDX41 s DDX41 VAF Tiers Concomitant variants VAF (%) Tier Cytogenetics
ASXL1 c.1900_1922del, p.E635fs 19 1
1* AML c.3G>A p.M1I 44 1 c.1574G>A p.R525H 6 1 PFH6 c.811G>A, p.E271K 12 1 46,XX[20]
CUX1 c.607 + 1G>A, p.? 3 1
CUX1 c.2786del, p.P929fs 1 1
2† AML c.3G>A p.M1I 46 1 c.1574G>A p.R525H 6 1 ASXL1 c.1900_1922del, p.E635fs 6 1 46,XX[20]
PHF6 c.940A>T, p.I314F 4 2
CUX1 c.2485C>T, p.Q829* 5 1
3 AML c.3G>A p.M1I 48 1 c.1574G>A p.R525H 0 1 ASXL1 c.1627G>T, p.E543* 2 1 NI
PHF6 c.880A>G, p.I294V 3 2
4† AML c.3G>A p.M1I 48 1 c.1574G>A p.R525H 16 1 ASXL1 c.1779dup, p.C594fs 8 1 45,X,-Y[6]/46,XY[14]
SF3B1 c.2098A>G, p.K700E 4 1
JAK2 c.1849G>T, p.V617F 5 1
5 AML c.3G>A p.M1I 48 1 c.1574G>A p.R525H 3 1 ASXL1 c.2905_ 2926delinsTACTGTT, p.D969_N971delinsYC* 5 1 NI
TP53 c.850A> C, p.T284P 5
KMT2A c.2830_2847dup, p.D944_T949dup 33 2
6*,† AML c.3G>A p.M1I 47 1 c.1574G>A p.R525H 1 1 ASXL1 c.1761_1768del, p.Q588fs 20 1 45,XY,del(5)(q15q35), der(7;16)(q10;q10), add(10)(p11.2),
BCORL1 c.1339C>T, p.Q447* 1 1 add(10)(q24),+20, -22[13]/45,XY,-4, del(5)(q15q35),
TP53 c.743G>A, p.R248Q 2 1 der(7)t(7;9)(p11.2;q13), add(12)(p12), -13,+14,
TP53 c.817C>T, p.R273C 1 1 add(14)(q32), add(18)(q21),-22,+mar[7]
7 AML c.3G>A p.M1I 45 1 c.1574G>A p.R525H 5 1 ASXL1 c.3030_3031delinsTT, p.E1011* 3 1 46,XY[20]
ASXL1 c.2122del, p.Q708fs 3 1
8 AML c.3G>A p.M1I 51 1 c.1574G>A p.R525H 7 1 ASXL1 c.1960dup, p.A654fs 6 1 46,XY[20]
9† AML c.3G>A p.M1I 58 1 c.1574G>A p.R525H 3 1 ASXL1 c.3824C>G, p.S1275* 11 1 46,XY[20]
ZRSR2 c.202_203del, p.R68fs 5 1
10*,† AML c.3G>A p.M1I 47 1 c.1574G>A p.R525H 1 1 DNMT3A c.1015-1G>C, p.? 5 1 46,XX[20]
SETBP1 c.1977T>A, p.D659G 1 2
11 AML c.3G>A p.M1I 51 1 c.1574G>A p.R525H 4 1 RUNX1 c.385C>G, p.L129V 6 2 46,XX[20]
JAK2 c.1849G>T, p.V617F 4 1
12† AML c.3G>A p.M1I 52 1 c.1574G>A p.R525H 5 1 RUNX1 c.776_777del, p.F259* 5 1 46,XX[20]
NF1 c.2033dupC, p.I679fs 45 1
13 AML c.3G>A p.M1I 50 1 c.1574G>A p.R525H 3 1 46,XX[20]
14† AML c.3G>A p.M1I 46 1 c.1574G>A p.R525H 2 1 trisomy 8
15† AML c.3G>A p.M1I 47 1 c.1574G>A p.R525H 6 1 46,XX[20]
16† AML c.3G>A p.M1I 50 1 c.1574G>A p.R525H 7 1 NI
17† AML c.3G>A p.M1I 43 1 c.1574G>A p.R525H 5 1 46,XY[20]
18† AML c.3G>A p.M1I 49 1 c.1574G>A p.R525H 7 1 46,XY[19]
19* AML c.3G>A p.M1I 47 1 c.1574G>A p.R525H 11 1 46,XY[20]
20*,† AML c.3G>A p.M1I 44 1 c.971G>A p.C264Y 5 1 45,X,-Y[6]/46,XY[14]
21† AML c.3G>A p.M1I 45 1 c.1037C>T p.A346P 3 1 46,XY[20]
22† AML c.3G>A p.M1I 50 1 ASXL1 c.1934dup, p.G646fs 13 1 46, XY[20]
KRAS c.35G>T, p.G12V 13 1
23 AML c.3G>A p.M1I 41 1 ASXL1 c.1934dup, p.G646fs 28 1 45, XY, −7[16]/46, XY, [4].
24† AML c.3G>A p.M1I 49 1 RUNX1 c.743dupA, p.N248fs 21 1 46,XY, del(5)(q13q33)[2]/47, sl,+21[2]/
TP53 c.827C>A, p.A276D 7 1 46∼48, sdl1,t(1;2) (p36.3;q31), t(1;6)(32P;q27)t(1;2), +mar[cp16]
25 AML c.323del p.K108fs 51 1 c.1574G>A p.R525H 9 1 TET2 c.3965T>A, p.L1322Q 9 1 46,XY[20]
SRSF2 c.284C>T, p.P95L 13 1
TP53 c.743G>A, p.R248Q 5 1
26 AML c.415_418dup p.D140fs 49 1 c.1574G>A p.R525H 22 1 ASXL1 c.1924_1928del, p.G644fs 4 1 46,XX[20]
TET2 c.2456dup, p.Y819* 4 1
TET2 c.2459G>A, p.S820N 4 2
SH2B3 c.1200dup, p.Y401fs 36 1
27 AML c.415_418dup p.D140fs 43 1 c.1574G>A p.R525H 3 1 ASXL1 c.1900_1922del, p.E635fs 2 1 46,XY[20]
DNMT3A c.976C>T, p.R326C 3 12
CSF3R c.1640G>A, p.W547* 48
28† AML c.415_418dup p.D140fs 43 1 c.1574G>A p.R525H 5 1 ASXL1 c.1919_1929del, p.A640fs 7 1 46,XY[20]
PHF6 c.834G>T, p.M278I 13 2
29 AML c.415_418dup p.D140fs 50 1 c.1574G>A p.R525H 7 1 ASXL1 c.2275_2284del, p.Gln760fs 3 1 46,XY, inv(11)(q21q23)[20]
TP53 c.830G>A, p.C277Y 6 1
30*,† AML c.415_418dup p.D140fs 45 1 c.1574G>A p.R525H 16 1 TET2 c.1847del, p.P616fs 1 1 46,XY[20]
TET2 c.782_786del, p.S261* 1 1
31 AML c.415_418dup p.D140fs 45 1 c.1574G>A p.R525H 1 1 TET2 c.5577_5578del, p.I1859fs 2 1 NI
32† AML c.415_418dup p.D140fs 46 1 c.1574G>A p.R525H 2 1 TET2 c.2340dup, p.V781fs 3 1 NI
DDX41 c.138 + 5G>T, p.? 47 2
33 AML c.415_418dup p.D140fs 46 1 c.1574G>A p.R525H 1 1 CUX1 c.2459G>A, p.W820* 1 1 NI
34† AML c.415_418dup p.D140fs 46 1 c.1574G>A p.R525H 2 1 46,XX[20]
35 AML c.415_418dup p.D140fs 42 1 c.1574G>A p.R525H 6 1 46,XY[20]
36 AML c.415_418dup p.D140fs 43 1 c.1589G>A p.G530D 35 1 ASXL1 c.3001dup, p.T1001fs 34 1 NI
EZH2 c.349C>T, p.Q117* 31 1
SETBP1 c.2608G>A, p.G870S 4 1
37 AML c.415_418dup p.D140fs 46 1 NI
38† AML c.415_418dup p.D140fs 49 1 46,X,-X,der1, (X;1)(p11.3;p36.3), inv9(p12q13)c, +14[4]/46, XX, inv9c[16]
39† AML c.415_418dup p.D140fs 47 1 46,XY[20]
40† AML c.415_418dup p.D140fs 46 1 46,XY[19]
41 AML c.415_418dup p.D140fs 44 1 NI
42 AML c.415_418dup p.D140fs 46 1 46,XX[20]
43 AML c.415_418dup p.D140fs 44 1 46,XY[20]
44 AML c.668dup p.I224fs 45 1 c.1574G>A p.R525H 16 1 ASXL1 c.2541del, p.T848fs 17 1 NI
PHF6 c.138 + 1G>A, p.? 5 1
PHF6 c.255C>G, p.C85W 9 2
45† AML c.847del p.L283fs 43 1 c.1574G>A p.R525H 5 1 NI
46 AML c.946_947del p.M316fs 52 1 c.1574G>A p.R525H 3 1 CUX1 c.3855del, p.S1286fs 1 1 46,XY[20]
47 AML c.1394del p.G465fs 46 1 c.1574G>A p.R525H 1 1 DNMT3A c.2026C>T, p.R676W 6 1 46,XY[20]
ASXL1 c.2423_2427del, p.P808fs 5 1
ASXL1 c.2060_2061del, p.C687fs 3 1
48 AML c.121C>T p.Q41* 48 1 c.1574G>A p.R525H 1 1 ASXL1 c.1900_1922del, p.E635fs 10 1 N/A
DNMT3A c.2256_2263del, p.W753* 15 1
PHF c.820C>T, p.R274* 22 1
49 AML c.121C>T p.Q41* 45 1 TET2 c.4133G>A, p.C1378Y 44 1 NI
GATA2 c.599dup, p.S201* 2 1
KDM6A c.3704 + 1G>C, p.? 67 1
ZRSR2 c.505C>T, p.R169* 93 1
NPM1 c.860_863dup, p.W288fs 35 1
50 AML c.475C>T p.R159* 51 1 c.1589G>A p.G530D 2 1 U2AF1 c.101C>A, p.S34Y 3 1 46,XY[20]
51 AML c.931C>T p.R311* 49 1 c.1589G>A p.G530D 5 1 PHF6 c.730-1G>A, p.? 3 1 NI
DNMT3A c.2255_2257del, p.F752del 1 1
52 AML c.1105C>T p.R369* 46 1 c.1574G>A p.R525H 18 1 ASXL1 c.1900_1922del, p.E635fs 13 1 46,XY[20]
SETBP1 c.2602G>A, p.D868N 5 1
SETBP1 c.2608G>A, p.G870S 9 1
SETBP1 c.2612T>C, p.I871T 5 1
53 AML c.1105C>T p.R369* 47 1 c.1574G>A p.R525H 1 1 TET2 c.3632G>A, p.C1211Y 4 1 NI
SH2B3 c.794G>A, p.R265Q 48 2
54 AML c.1108C>T p.Q370* 48 1 c.1588G>A p.G530S 25 1 JAK2 c.1849G>T, p.V617F 22 1 46,XY[20]
55 AML c.1504C>T p.Q502* 49 1 c.1035G>C p.E345D 10 1 ASXL1 c.2693G>A, p.W898* 9 1 45,X,-Y[14]/46,XY[6]
56† AML c.645-1G>T p.? 45 1 c.1574G>A p.R525H 1 1 ASXL1 c.3824C>G, p.S1275* 1 1 46,XY[20]
DNMT3A c.1572T>A, p.C524* 1 1
57 AML c.992_994del p.K331del 48 1 c.1035G>C p.E345D 14 1 ASXL1 p.E635fs 5 1 46,XY, der(7)add(7)(p13) add(7)(q11.2)[10]/45,XY, -der(7)[5]/46,XY[13]
EZH2 p.N546K 7 2
58*,† AML c.646C>G p.L216V 51 1 c.1035G>C p.E345D 30 1 DNMT3A c.2656C>T, p.Q886* 31 1 NI
59 AML c.653G>A p.G218D 50 1 c.1589G>A p.G530D 4 1 TP53 c.488A>G, p.Y163C 6 1 NI
RUNX1 c.288_291delinsAAA, p.N96fs 3 1
DNMT3A c.1627G>T, p.G543C 5 1
DNMT3A c.1578C>G, p.Y526* 5 1
60 AML; breast cancer c.773C>T p.P258L 56 1 c.1574G>A p.R525H 15 1 46,XY[20]
61 AML c.967C>T p.R323C 45 1 c.1574G>A p.R525H 3 1 TET2 c.3585_3588delnsAG, p.A1196fs 5 1 NI
SRSF2 c.284C>A, p.P95H 4 1
62 AML c.1046T>A p.M349K 45 1 46,XY[20]
63 AML c.1046T>A p.M349K 50 1 46,XY[20]
64 AML c.1105C>G p.R369G 48 1 c.1574G>A p.R525H 5 1 46,XX[20]
65 AML c.1399G>T p.D467Y 45 1 c.1589G>A p.G530D 13 1 ASXL1 c.1934dup, p.G646fs 13 1 NI
ASXL1 c.1900_1922del, p.E635fs 2 1
EZH2 c.2022G>C, p.L674F 3 1
SETBP1 c.2608G>A, p.G870S 4 1
EZH2 c.2197T>A, p.Y733N 10 1
SETBP1 c.2612T>C, p.I871T 8 1
66 AML c.1574G>A p.R525H 54 1 NI
67 MDS c.3G>A p.M1I 45 1 c.1574G>A p.R525H 2 1 DNMT3A c.1010C>G, p.S337* 1 1 NI
68 MDS c.3G>A p.M1I 49 1 c.1574G>A p.R525H 6 1 46,XY[20]
69 MDS c.3G>A p.M1I 43 1 c.1574G>A p.R525H 4 1 46,XX[20]
70 MDS c.3G>A p.M1I 53 1 c.1574G>A p.R525H 2 1 46,XY[20]
71 MDS c.3G>A p.M1I 50 1 c.694A>G p.T232A 3 1 46,XY[20]
72 MDS c.3G>A p.M1I 49 1 c.962C>T p.P321L 14 1 DNMT3A c.1792C>T, p.598* 14 1 46,XY[20]
73 MDS c.3G>A p.M1I 49 1 c.962C>T p.P321L 14 1 46,XY[20]
74 MDS c.3G>A p.M1I 48 1 c.1037C>T p.A346P 3 1 46,XY[20]
75 MDS c.3G>A p.M1I 46 1 c.1643T>A p.L548H 4 1 46,XX[20]
76 MDS; MM; MBL c.3G>A p.M1I 50 1 DNMT3A c.2645G>A, p.R882H 15 1 46,XX[20]
77 MDS c.3G>A p.M1I 46 1 PTPN11 c.215C>T, p.A72V 42 1 47,XY,del(5)(q13q33), +21[2]/48,sl,t(9;21) (q10;q10), +21[12]/
RUNX1 c.1036dup, p.R346fs 32 1
78 MDS c.3G>A p.M1I 49 1 JAK2 c.1849G>T, p.V617F 1 1 46,XY[20]
79 MDS c.3G>A p.M1I 49 1 45,X,-Y[6]/46,XY[14]
80 MDS c.415_418dup p.D140fs 44 1 c.1574G>A p.R525H 10 1 ASXL1 c.4127dup, p.P1377fs 12 1 NI
81 MDS c.415_418dup p.D140fs 45 1 c.794C>T p.P265L 27 1 DNMT3A c.1579C>T, p.Q527* 9 1 46,XY[20]
82 MDS c.1496dup p.A500fs 47 1 c.1660G>A p.E554K 2 1 46,XY[20]
83 MDS c.130C>T p.Q44* 60 1 c.1126C>T p.A376T 2 1 DNMT3A c.2207G>A, p.R736H 7 1 46,XX[20]
84 MDS c.475C>T p.R159* 47 1 c.1589G>A p.G530D 6 1 NI
c.1574G>A p.R525H 3 1
c.1588G>A p.G530S 1 2
85 MDS c.931C>T p.R311* 51 1 c.1574G>A p.R525H 6 1 SRSF2 c.284C>T, p.P95L 3 1 NI
86 MDS c.931C>T p.R311* 50 1 c.1574G>A p.R525H 7 1 NI
87 MDS c.992_994del p.K331del 43 1 c.1574G>A p.R525H 14 1 TET2 c.3866G>T, p.C1289F 3 1 46,XY[20]
88 MDS c.992_994del p.K331del 48 1 46,XY[20]
89 MDS c.566C>T p.P189L 49 1 c.1574G>A p.R525H 4 1 EZH2 c.434T>C, p.F145S 3 1 NI
90 MDS c.710T>G p.L237W 49 1 c.1589G>A p.G530D 13 1 46,XY[20]
91 MDS c.1016G>A p.R339H 51 1 IDH1 c.605del, p.S202fs 31 2 45,X,-Y/46,XY[15]
92 MDS c.1015C>T p.R339C 49 1 c.680C>T p.T227M 13 1 TET2 c.1793del, p.N598fs 2 1 46,XY[20]
93 MDS c.1018T>A p.Y340N 47 1 c.1574G>A p.R525H 7 1 CUX1, c.2389del, p.Q797fs 13 1 46,XY[20]
EZH2 c.371A>G, p.D124G 15 2
94* MDS c.1105C>G p.R369G 47 1 c.645-1G>A p.? 1 1 TET2 c.1263del; p.G422fs 31 1 NI
TET2 c.3860_3869del, p.F1287fs 1 1
95 Pancytopenia c.3G>A p.M1I 47 1 c.1574G>A p.R525H 14 1 JAK2 c.1849G>T, p.V617F 15 1 NI
TET2 c.1648C>T, p.R550* 7 1
96 Pancytopenia c.3G>A p.M1I 47 1 c.1574G>A p.R525H 2 1 NI
97 Pancytopenia c.415_418dup p.D140fs 46 1 c.1574G>A p.R525H 9 1 46,XY, del(20)(q11.2q13.1) [1]/46,XY[20]
98 Pancytopenia c.430del p.T144fs 45 1 c.1574G>A p.R525H 4 1 ASXL1c.4002del, p.S1335fs 21 1 NI
TP53 c.586C>T, p.R196* 4 1
TP53 c.916C>T, p.R306* 3 1
IDH2 c.419G>A, p.R140Q 2 1
99 Pancytopenia c.946_947del p.M316fs 47 1 c.1574G>A p.R525H 5 1 ASXL1 c.2644C>T, p.Q882* 6 1 46,XY[20]
PHF6 c.941T>C, p.I314T 11 2
100 Pancytopenia c.1354del p.L452fs 48 1 c.1574G>A p.R525H 8 1 DNMT3A c.929T>C, p.I310T 5 1 46,XY[20]
101 Pancytopenia c.475C>T p.R159* 48 1 c.1574G>A p.R525H 12 1 SRSF2 c.284C>A, p.P95H 10 1 NI
STAG2 c.1243C>T, p.H415Y 16 2
102 Pancytopenia c.1628C>G p.S543* 50 1 c.1574G>A p.R525H 4 1 ASXL1 c.1934dup, p.G646fs 3 1 NI
RUNX1 c.540del, p.F180fs 3 1
PHF6 c.941T>C, p.I314T 7 1
KDM6A c.2665del, p.T889fs 1 1
103 Pancytopenia c.649T>C p.S217P 48 1 c.1589G>A p.G530D 9 1 ASXL1 c.2467_2468insA, p.L823fs 7 1 NI
KRAS c.437C>T, p.A146V 3 1
SRSF2 c.47T>A, p.L16H 7 2
104 Pancytopenia c.773C>T p.P258L 47 1 c.1574G>A p.R525H 4 1 KDM6A c.3107delT, p.F1036fs 2 1 NI
SRSF2 c.284C>A, p.P95H 7 1
105 Pancytopenia c.776A>G p.Y259C 48 1 c.1574G>A p.R525H 6 1 FBXW7 c.62G>A, p.G21D 19 2 46,XY[20]
106 Pancytopenia c.1016G>T p.R339L 50 1 c.1574G>A p.R525H 1 1 NI
107 Thrombocytopenia c.415_418dup p.D140fs 45 1 c.1574G>A p.R525H 10 1 ASXL1 c.1900_1922del, p.E635fs 2 1 NI
CUX1 c.2161C>T, p.Q721* 8 1
SMC1A c.2132G>A, p.R711Q 4 2
108 Thrombocytopenia c.1586_ 1587delCA p.T529fs 52 1 TP53 c.1024C>T, p.R342* 40 1 46,XX[20]
109 Thrombocytopenia c.3G>A p.M1I 45 1 c.962C>T p.P321L 23 1 RUNX1 c.281G>A, p.S94N 30 1 NI
TP53 c.742C>T, p.R248W 35 1
SRSF2 c.284C>G, p.P95R 26 1
110 Neutropenia c.3G>A p.M1I 48 1 c.1574G>A p.R525H 10 1 NI
111 Neutropenia c.3G>A p.M1I 47 1 c.1574G>A p.R525H 1 1 NI
112 Anemia c.1105C>T p.R369* 45 1 c.1574G>A p.R525H 5 1 ASXL1 c.1934dup, p.G646fs 7 1 46,XX,+1, der(1;7)(q10;p10) [16]/46,XX[4]
EZH2 c.786dup, p.N263fs 4 1
SETBP1 c.2613_2614delinsGC, p.I871_G872delinsMR 4 2
113 MPN c.415_418dup p.D140fs 49 1 46,XX[20]
114 MPN c.946_947del p.M316fs 48 1 NI
115 MPN c.916C>T p.Q306* 48 1 46,XX[20]
116 MPN c.1141A>T p.K381* 44 1 c.1574G>A p.R525H 7 1 CUX1 c.988C>T, p.Q330* 7 1 46,XY[20]
117 AML c.6G>T p.E2D 48 2 FLT3 c.1805_1806ins42, p.K602_W603ins14 n/a 1 46,XX[20]
NPM1 c.863_864insCCTG, p.W288fs 35 1
WT1 c.1141_1144dup, p.A382fs 8 1
118* AML c.55G>A p.G19R 48 2 FLT3 ITD c.1837 +  11_1837 + 12ins114, p.? n/a 1 NI
NPM1 c.863_864insCCTG, p.W288fs 43 1
IDH1 c.395G>A, p.R132H 41 1
DNMT3A c.1627G>T, p.G543C 42 1
119* AML c.97T>C p.Y33H 45 2 FLT3 c.1770_1811dup42, p.W603_E604ins14 n/a 1 NI
NPM1 c.860_863dup, p.W288fs 18 1
DNMT3A c.860_863dup, p.W288fs 27 1
TET2 c.2490dup, p.Q831fs 23 1
120 AML c.465G>A p.M155I 47 2 NPM1 c.860_863dup, p.W288fs 7 1 46,XY[20]
SRSF2 c.284C>G, p.P95R 28 1
TET2 c.2244dup, p.Q749fs 44 1
121 AML c.465G>A p.M155I 47 2 NPM1 c.863_864insCTTG, p.W288Cfs 33 1 46,XY[20]
GATA2 c.599dup, p.S201* 2 1
122* AML c.491G>A p.R164N 48 2 c.1774A>T p.I592F 35 2 NPM1 c.863_864insCTTG, p.W288Cfs 33 1 46,XX[20]
123 AML c.1528C>T p.P510S 48 2 NPM1 c.860_863dup, p.W288fs 34 1 46,XY[20]
SRSF2 c.284C>T, p.P95L 42 1
KRAS c.35G>A, p.G12D 11 1
124 AML c.380T>A p.M127K 49 2 FLT3 c.2505T>G, p.D835E 3 1 46,XY,+12, der(17)t(17;18) (p10;q10),-18[8]
TP53 c.400T>A, p.F134I 46 1
TP53 c.458_462del, p.P153fs 3 1
U2AF1 c.101C>A, p.S34Y 6 1
KRAS c.351A>T, p.K117N 27 1
125 AML c.465G>A p.M155I 47 2 FLT3 p.N841K 7 1 46,XY[20]
KRAS c.35G>T, p.G12V 3 1
126 AML c.199G>C p.G67R 50 2 ASXL1 c.2959G>T, p.G987* 47 1 46,XY[20]
CEBPA c.985_986insCC, E329fs 42 1
CEBPA c.68del, p.P23fs 46 1
IDH2 c.418C>T, p.R140W 48 1
JAK2 c.1849G>T, p.V617F 6 1
127 AML c.199G>C p.G67R 48 2 ASXL1 c.2959G>T, p.G987* 22 1 46,XY[20]
IDH2 c.418C>T, p.R140W 25 1
SRSF2 c.284C>A, p.P95H 28 1
STAG2 c.1196 + 1G>A, p.? 4 1
STAG2 c.1999del, p.R667fs 15 1
128* AML c.465G>A p.M155I 51 2 48,XY,+8,+22[20]
129 AML c.883G>A p.A295T 53 2 TP53 c.743G>A, p.R248Q 35 1 44,XY,-3,add(5) (q11.2),+8, add(8)(q22), der(12;17)(q10;q10),
TP53 c.818G>A, p.R273H 15 1 −14,i(14)(q10), i(21)(q10)[12]/ 43-45, sl,-add(5)(q11.2), i(5)(q10)[cp4]/88 < 4n>,slx2[1]
130 AML c.893T>C p.I298T 49 2 DNMT3A c.989G>A, p.W330* 2 1 NI
TP53 c.844C>T, p.R282W 61 1
TP53 c.535C>T, p.H179Y 4 1
PTPN11 c.1504T>C, p.S502P 2 1
131 AML c.1063G>A p.E355K 47 2 PHF6 c.418 + 2T>C, p.? 21 1 46,XX[7]
KMT2A c.10462C>T, p.Gln3488* 25 2
132 AML c.465G>A p.M155I 48 2 NRAS c.181C>A, p.Q61K 15 1 46,XY,inv(16) (p13.1q22)[20]
133 AML c.465G>A p.M155I 47 2 CSF3R c.1843A>G, p.T615A
CSF3R c.1853C>T, p.T618I		 22
4		 1
1		 46,XX, der(8)t(8;21) (q22;q22), der(8)?(8pter-> 8p22::?:: 8p11.2-> 8q?13::8q22 ->8qter), der(21)(21pter-> 21q22::8?q13-> 8q?22:: 8q22-> 8qter)[7]/45, sl,-X[8]/46,XX[5]
134 AML c.138 + 5G>A p.? 50 2 NRAS c.181C>A, p.Q61Lys 39 1 47,XY, +8,inv(16) (p13.1q22)[20]
135 MDS c.367G>A p.G123S 48 2 ASXL1 c.2239_2244delinsCC, p.S747fs 42 1 46,XX[20]
ASXL1 c.1934dup, p.G646fs 2 1
TET2 c.5543C>G, p.S1848* 1 1
EZH2 c.1119dup, p.T374fs 2 1
IDH2 c.419G>A, p.R140Q 31 1
SF3B1 c.2347G>A, p.E783K 2 2
JAK2 c.1849G>T, p.V617F 1 1
136 MDS c.465G>A p.M155I 43 2 JAK2 c.1849G>T, p.V617F 27 1 NI
DNMT1 c.4663G>A, p.V1555M 32 2
SH2B3 c.127C>T, p.R43C 35 2
137 MDS c.644 + 5G>C p.? 43 2 SH2B3 c.947_953del, p.E316fs 21 1 47,XY, +9,del(20) (q11.2q13.1)[19]/46,XY[1]
JAK2 c.1849G>T, p.V617F 40 1
138 MDS c.523G>A p.G175S 48 2 NRAS c.34G>A, p.G12S 44 1 NI
TET2 c.2290dup, p.Q764fs 50 1
GATA2 c.599del, p.G200fs 1 1
SRSF2 c.284C>A, p.P95H 47 1
139 MDS c.529C>T p.P177S 45 2 SMC1A c.197A>G, p.H66R 9 2 NI
BCOR c.441dup, p.Ile148fs 50 1
U2AF1 c.101C>T, p.S34F 37 1
RUNX1 c.601del, p.R201fs 10 1
140 MDS c.1301C>T p.P434L 49 2 GATA2 c.599dup; p.S201* 31 1 46,XY[20]
NPM1 c.867_868insAGGA, p.W290fs 48 1
141 MDS c.1528C>T p.P510S 48 2 ASXL1 c.1934dup, p.G646fs 35 1 NI
CBL c.800G>A, p.G267D 2 2
142 MDS c.1704C>G p.C568W 48 2 KIT c.2446_2447delinsAT, p.D816I 10 1 NI
KIT c.2447A>T, p.D816V 1 1
PTPN11 c.154A>G, p.T52A 5 1
PTPN11 c.1508G>A, p.G503E 3 2
143 MDS/MPN c.1760G>C p.G587A 47 2 CSF3R c.1853C>T, p.T618I 3 1 47,XY,+8[20]
KRAS c.436G>C, p.A146P 37 1
ASXL1 c.1900_1922del, p.E635fs 44 1
STAG2 c.1191dup, p.Q399fs 92 1
144 MDS c.1276G>A p.E426K 49 2 SRSF2 c.284C>A, p.P95H 46 1 NI
IDH2 c.419G>A, p.R140Q 45 1
145 MDS c.1528C>T p.P510S 48 2 TP53 c.734G>A, p.G45D 20 1 NI
146 MDS c.1663G>A p.A555T 43 2 TP53 c.706dup, p.Y236fs 39 1 44-47,XY, del(5)(q22q35), -7,der(11)t(11;13) (p15;q14),
TP53 c.713G>A, p.C238Y 37 1
147 Pancytopenia c.27G>A p.K9K 43 2 NI
148 Pancytopenia c.465G>A p.M155I 50 2 SF3B1 c.1996A>G, p.K666E 19 1 45,X,-Y[14]/46,XY[6]
U2AF1 c.101C>T, p.S34F 5 1
149 Pancytopenia c.556A>T p.M186L 47 2 ETNK1 c.731A>G, p.N244S 24 1 NI
Small cell carcinoma KRAS c.468C>G, p.F156L 18 2
150 Pancytopenia c.656G>A p.R219H 49 2 c.679A>G p.T227A 30 2 46,XY[20]
151 Pancytopenia c.845G>A p.R282H 40 2 TP53 c.377A>G, p.Y126C 67 1 NI
BRAF c.1391G>T, p.G464V 38 1
152 Pancytopenia c.881G>T p.C294F 48 2 CBL c.1211G>A, p.C404Y 2 1 NI
153 Pancytopenia c.1477T>G p.S493A 47 2 ASXL1 c.1900_1922del, p.E635fs 15 1 NI
ASXL1 c.1934dup, p.G646fs 3 1
ASXL1 c.2295del, p.S766fs 1 1
SH2B3 c.703C>G, p.R235G 16 1
154 Thrombocytopenia c.465G>A p.M155I 50 2 46,XY[20]
155 Thrombocytopenia c.707C>T p.T236M 47 2 NI
156 Thrombocytopenia c.138 + 5G>A p.? 54 2 NI
157 Thrombocytopenia c.644 + 5G>C p.? 47 2 RAD21 c.507_508del, p.E169fs 38 1 NI
NRAS c.35G>A, p.G12D 20 1
TP53 c.818G>A, p.R273H 31 1
TP53 c.559 + 1G>A, p.? 42 1
158 Neutropenia c.138 + 5G>A p.? 50 2 NI
159 Anemia c.751C>T p.P251S 46 2 46,XX[20]
160 Anemia c.1748C>T p.A583V 47 2 PTPN11 c.227A>T, p.E76V 45 1 NI
161 MPN, PV c.23G>A p.R8Q 47 2 JAK2 c.1849G>T, p.V617F 45 1 46,XY[20]
162 MPN, PV c.94G>A p.D32N 48 2 JAK2 c.1849G>T, p.V617F 85 1 46,XY[20]
163 MPN, ET c.398C>T p.A133V 44 2 CALR c.1122_1125del, p.K374fs 44 1 NI
U2AF1 c.470A>G, p.Q157R 45 1
ZRSR2 c.236_237del, p.E79Afs 87 1
164 MPN c.644T>C p.I215T 48 2 JAK2 c.1849G>T, p.V617F 26 1 NI
ASXL1 c.1934dup, p.G646fs 1 1
165 MPN c.647T>C p.L216P 48 2 c.1655T>G p.L552R 14 2 JAK2 c.1849G>T, p.V617F 12 1 NI
ASXL1 c.1900_1922del, p.E635fs 8 1
166 MPN, ET c.707C>T p.T236M 50 2 JAK2 c.1849G>T, p.V617F 18 1 46,XY[20]
SF3B1 c.2110A>T, p.I704F 15 1
167 MPN c.1471G>A p.V491I 52 2 JAK2 c.1849G>T, p.V617F 47 1 46,XY[20]
TP53 c.743G>A, p.R248Q 6 1
TP53 c.742C>T, p.R248W 5 1
NF1 c.2035del, p.I679fs 15 1
168 MPN, ET c.1630G>T p.V544L 49 2 JAK2 c.1849G>T, p.V617F 26 1 46,XY[20]
SF3B1 c.1997A>C, p.K666T 16 1
169 MPN, ET c.138 + 5G>T p.? 49 2 NI
170 MPN, ET c.465G>A p.M155T 49 2 46,XX[20]
171 MPN c.560A>G p.K187R 46 2 NI
172 LPL with pancytopenia c.490C>T p.R164W 50 2 SF3B1 c.2098A>G, p.K700E 41 1 46,XY[20]
173 γ heavy chain disease c.490C>T p.R164W 49 2 46,XY[20]
MYD88 negative LPL
174 CLL; breast cancer c.490C>T p.R164W 47 2 46,XY[20]
175 CLL c.751C>T p.P251S 50 2 46,XY, del(13)(q12;q22), add(18)(p11.20[4]/46,XY[16]
176 MM c.29G>A p.R10Q 46 2 TP53 c.376T>G, p.Y126D 24 1 44∼46,X, add(X)(p10), del(6)(q21q23), i(8)(q10),
DNMT3A c.2339T>C, p.I780T 18 2 t(11;14)(q13;q32), del(13)(q12q22),- 14,-17,+1∼ 2mar[cp4]/46,XX[16]
KDM6A c.1354_1355del, p.G452fs 26 1
177 AML c.1574G>A p.R525H 12 1 ASXL1 c.1774C>T, p.Q592* 4 1 46,XY,t(1;4)? (q21;q31)[2]/46,XY[6]
PHF6 c.58del, p.C20fs 17 1
178 AML c.1574G>A p.R525H 25 1 ASXL1 c.2077C>T, p.R693* 2 1 46,XY[21]
179 AML c.1574G>A p.R525H 1 1 CBL c.1211G>A, p.C404Y 15 1 46,XX[20]
U2AF2 c.766G>A, p.D256G 16 2
180 AML c.1574G>A p.R525H 4 1 SH2B3 c.519_523del, p.R175fs 3 1 45,X,-Y[5]/46,XY[15]
PHF6 c.635G>T, p.C212F 8 2
181 AML c.1574G>A p.R525H 16 1 SRSF2 c.284C>A, p.P95H 17 1 46,X,del(X)?(q22q26)[2]/46,XX[18]
182 AML c.1574G>A p.R525H 9 1 SETBP1 c.2602G>C, p.D868H 2 1 NI
c.944A>G p.H315R 8 2 CUX1 c.439C>T, p.R147* 7 1
STAG2 1693G>T, p.E565* 5 1
EZH2 c.1967C>T, p.A656V 4 1
ASXL1 c.2156del, p.E719fs 8 1
183 AML c.1589G>A p.G530D 15 1 ASXL1 c.2985del, p.H995fs 5 1 46,XY[20]
c.629A>G p.Q210R 15 2 ASXL1 c.2083C>T, p.R695* 3 1
ASXL1 c.2077C>T, p.H963* 5 1
EZH2 c.2213del, p.A738fs 15 1
NF1 c.3774G>C, p.W1258C 12 1
184 AML; DLBCL c.1589G>A p.G530D 6 1 46,XY[20]
185 MDS c.1574G>A p.R525H 4 1 DNMT3A c.2645G>A, p.R882H 3 1 46,XX[11]
186 MDS c.1574G>A p.R525H 9 1 45,X,-Y[4]/46,XY[16]
187 MDS c.1574G>A p.R525H 10 1 46,XX[20]
188 MDS c.1574G>A p.R525H 1 1 46,XY[20]
189 MDS c.1574G>A p.R525H 4 1 46,XY[20]
190 AML c.157C>G p.R53G 5 2 SF3B1 c.2098A>G, p.K700E 32 1 NI
PTPN11 c.214G>A, p.A72T 37 1
191 AML c.1760_ 1761TT p.G587V 4 2 DNMT3A c.2645G>A, p.R882H 7 1 46,XY[20]
DNMT3A c.2095G>A, p.G699R 3 2
192 MDS c.622C>G p.Q208E 14 2 SETBP1 c.2608G>A, p.G870S 6 1 46,XY,del(7)(q22)[6]/46,XY[14]
SETBP1 c.2602G>A, p.D868N 2 1
DNMT3A c.2645G>A, p.R882H12 12 1
EVT6 c.313C>G, p.R105G 2 2
TET2 c.4079T>C, p.L1360P 1 2
193 MDS c.1199G>T p.R400L 3 2 ASXL1 c.2324T>G, p.L775* 20 1 46,XY, del(5)(q31q33) [13]/46,XX[7]
194 MDS c.1369G>C p.V457L 2 2 TP53 c.818G>A, p.R273H 30 1 46,XY, del(5)(q31q33) [14]/46,XX[6]
TP53 c.578A>C, p.H193P 2 2
195 Neutropenia c.1775T>A p.I592N 4 2 SRSF2 c.284C>T, p.P95L 4 1 NI
RUNX1 c.606dup, p.P203fs 2 1
TET2 c.330G>C, p.Lys110N 3 2
196* Normal c.3G>A p.M1I 53 1 46,XY[20]
197* Normal c.3G>A p.M1I 50 1 46,XX[20]
198* Normal c.415_418dup p.D140fs 46 1 Not done
199* Normal c.415_418dup p.D140fs 45 1 NI
200* Normal c.415_418dup p.D140fs 56 1 46,XY[20]
201* Normal c.992_994del p.K331del 47 1 Not done
202 Normal∼(donor) c.931C>T p.311* 50 1 47,XX,+8[19]
203 Normal∼(donor) c.465G>A p.M155I 46 2 46,XY[20]
204 Normal∼(donor) c.1693G>A p.V565M 50 2 46,XY[20]
205 Normal∼(donor) c.1585dup p.T529fs 46 1 44,XY,inc[1]//46,XX[16]

AF, variant allele frequency by %; ET, essential thrombocythemia; gl, germline; NI, no information; PMF, primary myelofibrosis; s, somatic; Tier 1, CV; Tier 2, VUS.

*

Germline variants confirmed by skin biopsies.

†

Patients reported in a prior study.9