Table 2.
Gene | Exon | Gene Mutations | ||||
---|---|---|---|---|---|---|
ASXL1 | 6 | S135C [12] | ||||
8 | G219V [12] | |||||
12 | Y591* [80] | I641fs [13] | P698Afs* [32] | I919Yfs* [29] | H1008Tfs* [29] | |
E602* [29] | G642fs [12] | R786Efs* [29] | P920Tfs* [80] | G1026Dfs* [29] | ||
A611T [29] | G643Wfs* [13] | D820Mfs* [29] | R965_G966del [12] | I1220F [80] | ||
I617Pfs* [32] | G646Wfs* [29,81] | T844fs [12] | Y974* [32] | G1397S [29] | ||
H630fs [12]/Gfs* [29] | G646Afs* [29] | S846Vfs* [81] | I980Kfs* [32] | A1521S [12] | ||
E635Rfs* [13,29,32] | R693* [13] | P849Lfs* [29] | E997* [29] | *1542fs [13] | ||
CBL | 8 | Q367dup [80] | Y371C [29]/H [29]/S [29] | M374K [29] | L380P [10,29,82] | |
C384R [12]/Y [29] | M400K [10,32] | C404Y [10,29] | W408C [10,32] | |||
9 | G413D [29] | R420Q [10,29] | I423N [29] | |||
11 | R550W [12] | |||||
DNMT3A | 3 | E30A [80] | ||||
4 | N90S [12] | |||||
8 | R320* [12,29] | |||||
10 | A380V [12] | K420* [12] | ||||
15 | W581C [12] | L594Cfs* [29] | R598* [29] | D600Afs* [29] | ||
16 | S638C [12] | |||||
17 | S663L [12] | |||||
18 | S714F [12] | R720L [12] | ||||
19 | E733G [29] | F755S [12] | R771G [29]/Q [80] | |||
23 | N879D [13] | R882C [12,13]/H [12,13,80] | ||||
EZH2 | 3 | L50Wfs* [13] | ||||
5 | I146T [13] | |||||
7 | S220F [32] | |||||
8 | R288* [32] | |||||
14 | Q545* [13] | |||||
15 | R583Q [13] | N608K [13] | ||||
17 | F672L [29] | |||||
18 | R690C [29] | H694R [40] | ||||
JAK2 | 14 | V617F [12,29,32] | S605Y [12] | |||
KRAS | 2 | V14I [83] | ||||
3 | Q70H [12] | |||||
5 | I187N [12] | |||||
NRAS | 2 | G12S [29] | G12D [29,84] | G13D [84] | ||
3 | Q61L [29] | |||||
RUNX1 | 4 | L56S [29] | P86fs [13] | E88Rfs* [13] | S94I [29] | |
D96Gfs [85] | R107C [13] | N109T [13]/del [29] | F116L [12] | |||
5 | S141L [29] | A142T [13] | N146K [12,13] | R162K [13,29] | ||
7 | V238Gfs* [13] | |||||
SF3B1 | 5 | Y141C [12] | ||||
14 | R625C [29] | W658C [29] | T663I [29] | K666N [29]/T [13,32] | ||
15 | K700E [13,29,83] | A711D [86] | ||||
SRSF2 | 1 | V18L [10] | P95 A [13]/H [10,32,85]/L [10]/R [12,13]/T [87] | |||
TET2 | 3 | L34F [29] | Q321* [83] | P562Tfs* [29] | Q729* [32] | Q933* [51] |
H192Y [13] | E368* [13] | N595Ifs* [51] | Q731* [51] | Q939* [29] | ||
V218Wfs* [32] | Q373Rfs* [51] | P612fs [12] | Q734* [51] | K948Nfs* [83] | ||
Y234* [51] | P409Lfs* [80] | L615Sfs* [29] | Q752_fs* [29] | W954* [29] | ||
R248Q [29] | G429R [29] | Y620fs [12] | L757Tfs* [29] | Q958Tfs* [29] | ||
S254Rfs* [51] | L431* [51] | Y634* [29] | L806Rfs* [29] | Q963* [29] | ||
E259Gfs* [29] | E452Rfs* [29,88] | Q652* [29] | Q810* [29,88] | S972Ffs* [29] | ||
N275Ifs* [12,13] | D527Gfs* [29] | Q652Sfs* [80] | N837Yfs* [32] | C1016Wfs* [29,88] | ||
Q278* [29] | Q530* [29] | Q659Rfs* [29] | L840* [51] | Q1020* [80] | ||
T279fs [12] | E537Sfs* [29] | Q684Nfs* [29] | T849Hfs* [89] | I1024Qfs* [51] | ||
N281* [29] | R550* [29] | Q705Sfs* [29] | Y867H [29] | P1061Qfs* [51] | ||
R282G [29] | H558Lfs* [51] | A727S [12] | V872Cfs* [29] | Q1084P [29] | ||
4 | D1143Mfs* [32,51] | |||||
5 | Q1170* [88] | |||||
6 | H1219D [32] | Y1245Lfs [85] | S1246* [51] | Y1255fs [12] | ||
8 | Y1337* [80] | A1341E [85] | ||||
9 | Y1351* [51] | R1359 C [88]/H [29] | S1369L [29] | H1380Y [29] | D1384V [29] | |
Q1389* [51] | T1393I [29] | |||||
10 | R1465* [29] | R1467G_fs* [29] | K1493fs [12] | |||
11 | L1515Ffs* [51] | M1615* [89] | V1718L [29] | L1819* [29] | N1890S [12] | |
L1531A_fs* [29,88] | Q1652Hfs* [29] | P1723S [29] | I1873T [80] | R1891G [29] | ||
K1533* [29] | Y1679L_fs* [29] | D1750Efs* [51] | E1879* [29] | F1901Lfs* [51] | ||
E1555R_fs* [29] | Q1680* [29] | N1765* [29] | H1881L [29]/R [29,51,88] | Y1902C [29] | ||
Y1598Sfs* [29] | S1688_fs* [29,51,88] | M1800Dfs* [51] | T1884A [29] | H1904R [80] | ||
S1611Y [12] | M1701I [29] | H1817Pfs* [29] | L1886S [29] | H1912Y [13] |
*: Stop codon resulting in an incomplete protein.