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. 2022 May 18;14(10):2487. doi: 10.3390/cancers14102487

Table 2.

Mutations in genes other than KIT reported in systemic mastocytosis.

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.