Pos. |
WT |
Mut |
AA |
Mut |
Comp |
Name |
NB |
Ref |
Comments |
Acute Myelogenous Leukemia |
306 |
CGA |
TGA |
Arg |
Stop |
SM |
2L1 |
160 |
2048 |
from patient RUPN84. Single report |
236 |
TAC |
CAC |
Tyr |
His |
MM |
CG2 |
13 |
356 |
Single report |
237 |
ATG |
GTG |
Met |
Val |
MM |
CG2 |
14 |
356 |
Single report |
248 |
CGG |
CAG |
Arg |
Gln |
MM |
CG2 |
883 |
356 |
Single report |
133 |
ATG |
AAG |
Met |
Lys |
SM |
HEL |
13 |
1006 |
wt in COSMIC |
248 |
CGG |
TGG |
Arg |
Trp |
SM |
K051 |
728 |
243 |
Single report |
248 |
CGG |
TGG |
Arg |
Trp |
SM |
K052 |
728 |
243 |
Single report |
248 |
CGG |
CAG |
Arg |
Gln |
SM |
KASUMI-1 |
883 |
2249 |
Mutation in COSMIC database |
272 |
GTG |
ATG |
Val |
Met |
SM |
KMOE-2 |
105 |
2249 |
Mutation in COSMIC database |
241 |
TCC |
CCC |
Ser |
Pro |
SM |
ML-1 |
11 |
2198 |
Single report |
273 |
CGT |
CAT |
Arg |
His |
SM |
MONOMAC-1 |
780 |
2198 |
Single report |
241 |
TCC |
del1c |
Ser |
Fs. |
SM |
NOMO-1 |
4 |
2249 |
Mutation in COSMIC database |
172 |
GTT |
TTT |
Val |
Phe |
DMU |
OHN-GM |
19 |
2049 |
Single report |
238 |
TGT |
TAT |
Cys |
Tyr |
DMU |
OHN-GM |
98 |
2049 |
Single report |
195 |
ATC |
ACC |
Ile |
Thr |
SM |
SHI-1 |
90 |
2207 |
Single report |
288 |
AAT |
TAT |
Asn |
Tyr |
SM |
YSK-21 |
5 |
1710 |
Single report |
B-Acute Lymphoblastic Leukemia |
109 |
TTC |
TCC |
Phe |
Ser |
SM |
ALL-A |
3 |
1303 |
Single report |
265 |
CTG |
CCG |
Leu |
Pro |
SM |
ALL-C |
23 |
1303 |
Single report |
248 |
CGG |
CAG |
Arg |
Gln |
SM |
ALL-PO |
883 |
2249 |
Mutation in COSMIC database |
109 |
TTC |
TCC |
Phe |
Ser |
SM |
ALL-W |
3 |
1303 |
Single report |
248 |
CGG |
CAG |
Arg |
Gln |
SM |
EU-10 |
883 |
1627 |
Single report |
248 |
CGG |
CAG |
Arg |
Gln |
SM |
EU-11 |
883 |
1627 |
Single report |
248 |
CGG |
CAG |
Arg |
Gln |
SM |
EU-13 |
883 |
1627 |
Single report |
273 |
CGT |
CTT |
Arg |
Leu |
SM |
EU-18 |
147 |
1627 |
Single report |
248 |
CGG |
CAG |
Arg |
Gln |
SM |
EU-2 |
883 |
617 |
Single report |
273 |
CGT |
CTT |
Arg |
Leu |
SM |
EU-6 |
147 |
617 |
Single report |
248 |
CGG |
CAG |
Arg |
Gln |
SM |
EU-7 |
883 |
617 |
Single report |
246 |
ATG |
ACG |
Met |
Thr |
SM |
GR-ST |
13 |
2249 |
Mutation in COSMIC database |
124 |
TGC |
TGA |
Cys |
Stop |
SM |
HPB-ALL |
1 |
2198 |
Single report |
273 |
CGT |
TGT |
Arg |
Cys |
SM |
KARPAS-45 |
687 |
2249 |
Mutation in COSMIC database |
224 |
GAG |
ins5 |
Glu |
Fs. |
SM |
KG-1 |
1 |
126 |
Single report |
225 |
GTT |
ATT |
Val |
Ile |
SM |
KG-1a |
4 |
163 |
Single report |
177 |
CCC |
TCC |
Pro |
Ser |
SM |
KMO-90 |
19 |
239 |
Single report |
245 |
GGC |
AGC |
Gly |
Ser |
SM |
KOPM30 |
440 |
661 |
Single report |
245 |
GGC |
CGC |
Gly |
Arg |
SM |
KOPN32 |
20 |
661 |
Single report |
257 |
CTG |
GTG |
Leu |
Val |
SM |
KOPN35 |
7 |
661 |
Single report |
282 |
CGG |
ins2b |
Arg |
Fs. |
SM |
KOPN49 |
1 |
661 |
Single report |
209 |
AGA |
ins4b |
Arg |
Fs. |
SM |
KOPN63 |
1 |
661 |
Single report |
175 |
CGC |
TGC |
Arg |
Cys |
MM |
SCMC-L9 |
28 |
478 |
Single report |
248 |
CGG |
CAG |
Arg |
Gln |
MM |
SCMC-L9 |
883 |
478 |
Single report |
358 |
GAG |
AAG |
Glu |
Lys |
MM |
SCMC-L9 |
1 |
478 |
Single report |
246 |
ATG |
ACG |
Met |
Thr |
SM |
Tanoue |
13 |
2242 |
Single report |
175 |
CGC |
CAC |
Arg |
His |
SM |
TMBL-1 |
1187 |
1967 |
Single report |
220 |
TAT |
TGT |
Tyr |
Cys |
SM |
U-698-M |
336 |
2249 |
Mutation in COSMIC database |
B-cell Leukemia |
281 |
GAC |
GGC |
Asp |
Gly |
SM |
BALL-1 |
16 |
2242 |
Single report |
248 |
CGG |
CTG |
Arg |
Leu |
SM |
HL-60(TB) |
124 |
1018 |
Single report |
132 |
AAG |
AGG |
Lys |
Arg |
SM |
KU812 |
51 |
1006 |
wt in COSMIC |
285 |
GAG |
AAG |
Glu |
Lys |
SM |
RPMI-8226 |
165 |
1018 |
Single report |
237 |
ATG |
ATA |
Met |
Ile |
SM |
WI-L2-NS |
123 |
637 |
Controversy with other publications |
330 |
CTT |
CAT |
Leu |
His |
SM |
WI-L2-NS |
4 |
769 |
Controversy with other publications |
B-cell Lymphoma |
280 |
AGA |
CGA |
Arg |
Arg |
SM |
2 |
1 |
1098 |
Single report |
127 |
TCC |
TTC |
Ser |
Phe |
SM |
3 |
30 |
1098 |
Single report |
176 |
TGC |
TCC |
Cys |
Ser |
SM |
5 |
13 |
1098 |
Single report |
248 |
CGG |
CAG |
Arg |
Gln |
SM |
6 |
883 |
1098 |
Single report |
273 |
CGT |
TGT |
Arg |
Cys |
SM |
8 |
687 |
1098 |
Single report |
274 |
GTT |
CTT |
Val |
Leu |
SM |
9 |
16 |
1098 |
Single report |
213 |
CGA |
CAA |
Arg |
Gln |
DMD |
A3/KAW |
38 |
3 |
Single report |
234 |
TAC |
CAC |
Tyr |
His |
DMD |
A3/KAW |
25 |
3 |
Single report |
283 |
CGC |
CAC |
Arg |
His |
SM |
DG-75 |
19 |
1143 |
Single report |
216 |
GTG |
ATG |
Val |
Met |
DMU |
HT |
74 |
2249 |
Mutation in COSMIC database |
273 |
CGT |
CAT |
Arg |
His |
DMU |
HT |
780 |
2249 |
Mutation in COSMIC database |
158 |
CGC |
CAC |
Arg |
His |
DMU |
LY1 |
105 |
613 |
Single report |
176 |
TGC |
GGC |
Cys |
Gly |
DMU |
LY1 |
7 |
613 |
Single report |
238 |
TGT |
CGT |
Cys |
Arg |
SM |
LY17 |
26 |
613 |
Single report |
176 |
TGC |
TTC |
Cys |
Phe |
SM |
LY2 |
191 |
613 |
Single report |
245 |
GGC |
GAC |
Gly |
Asp |
SM |
LY7 |
171 |
613 |
Single report |
282 |
CGG |
CCG |
Arg |
Pro |
SM |
LY8 C3 |
21 |
613 |
Single report |
B-Lineage Diffuse Large Cell Leukemia |
248 |
CGG |
CAG |
Arg |
Gln |
SM |
DB |
883 |
2249 |
Mutation in COSMIC database |
273 |
CGT |
TGT |
Arg |
Cys |
SM |
KARPAS-299 |
687 |
2249 |
Mutation in COSMIC database |
319 |
AAG |
TAG |
Lys |
Stop |
SM |
KARPAS-422 |
5 |
2249 |
Mutation in COSMIC database |
Burkitt lymphoma |
273 |
CGT |
TGT |
Arg |
Cys |
SM |
Abana |
687 |
2247 |
Single report |
190 |
CCT |
del1 |
Pro |
Fs. |
SM |
AKATA |
1 |
75 |
Single report |
248 |
CGG |
CAG |
Arg |
Gln |
SM |
AKUA |
883 |
447 |
Single report |
206 |
TTG |
del1 |
Leu |
Fs. |
SM |
AS283A |
2 |
44 |
Single report |
193 |
CAT |
CGT |
His |
Arg |
SM |
BJAB |
86 |
75 |
Single report |
273 |
CGT |
TGT |
Arg |
Cys |
SM |
BL-113 |
687 |
44 |
Single report |
246 |
ATG |
ACG |
Met |
Thr |
SM |
BL-30 |
13 |
75 |
Single report |
237 |
ATG |
ATA |
Met |
Ile |
SM |
BL-37 |
123 |
44 |
Single report |
248 |
CGG |
CAG |
Arg |
Gln |
SM |
BL-41 |
883 |
75 |
Single report |
176 |
TGC |
TAC |
Cys |
Tyr |
DMU |
BL-49 |
88 |
44 |
Single report |
248 |
CGG |
TGG |
Arg |
Trp |
DMU |
BL-49 |
728 |
44 |
Single report |
282 |
CGG |
TGG |
Arg |
Trp |
SM |
BL-60 |
600 |
44 |
Single report |
273 |
CGT |
TGT |
Arg |
Cys |
SM |
BL-70 |
687 |
2249 |
Mutation in COSMIC database |
213 |
CGA |
TGA |
Arg |
Stop |
SM |
BL-99 |
306 |
44 |
Single report |
248 |
CGG |
CAG |
Arg |
Gln |
SM |
CA46 |
883 |
447 |
Single report |
175 |
CGC |
CAC |
Arg |
His |
SM |
CW678 |
1187 |
44 |
Single report |
213 |
CGA |
TGA |
Arg |
Stop |
SM |
DAUDI |
306 |
44 |
Controversy with other publications |
266 |
GGA |
GAA |
Gly |
Glu |
SM |
DAUDI |
74 |
2249 |
Controversy with other publications |
248 |
CGG |
CAG |
Arg |
Gln |
SM |
DH978 |
883 |
1030 |
Single report |
206 |
TTG |
del1 |
Leu |
Fs. |
SM |
EB3 |
2 |
44 |
Single report |
152 |
CCG |
CTG |
Pro |
Leu |
DMD |
GA-10 |
91 |
1819 |
Single report |
232 |
ATC |
AAC |
Ile |
Asn |
DMD |
GA-10 |
13 |
1819 |
Single report |
234 |
TAC |
TGC |
Tyr |
Cys |
SM |
JD38 |
133 |
44 |
Confirmed in another publication |
132 |
AAG |
CAG |
Lys |
Gln |
SM |
JIYOYE |
14 |
75 |
Confirmed in another publication |
248 |
CGG |
CAG |
Arg |
Gln |
SM |
KK124 |
883 |
1007 |
Single report |
248 |
CGG |
CAG |
Arg |
Gln |
SM |
KK125 |
883 |
44 |
Single report |
238 |
TGT |
TAT |
Cys |
Tyr |
SM |
LOUCKES |
98 |
75 |
Confirmed in another publication |
238 |
TGT |
TAT |
Cys |
Tyr |
SM |
MC116 |
98 |
44 |
Confirmed in another publication |
248 |
CGG |
CAG |
Arg |
Gln |
SM |
NAMALWA |
883 |
75 |
Confirmed in three other publications |
163 |
TAC |
CAC |
Tyr |
His |
DMU |
P3HR1 |
26 |
44 |
Confirmed in two other publications |
287 |
GAG |
TAG |
Glu |
Stop |
DMU |
P3HR1 |
14 |
44 |
Confirmed in two other publications |
273 |
CGT |
TGT |
Arg |
Cys |
SM |
PP984 |
687 |
44 |
Single report |
213 |
CGA |
CAA |
Arg |
Gln |
DMD |
RAJI |
38 |
161 |
Confirmed in another publication Some publications described only one of the two mutations |
234 |
TAC |
CAC |
Tyr |
His |
DMD |
RAJI |
25 |
161 |
Confirmed in another publication Some publications described only one of the two mutations |
254 |
ATC |
GAC |
Ile |
Asp |
SM |
RAMOS |
3 |
44 |
Confirmed in three other publications |
175 |
CGC |
ins3a |
Arg |
InF |
SM |
SG568 |
1 |
447 |
Single report |
158 |
CGC |
CAC |
Arg |
His |
SM |
ST486 |
105 |
44 |
Consensus based on three puublications. Controversy with other publications Second mutation found by COSMIC |
158 |
CGC |
CAC |
Arg |
His |
DMU |
ST486 |
105 |
2249 |
Controversy with other publications. Excluded from the consensus |
239 |
AAC |
GAC |
Asn |
Asp |
DMU |
ST486 |
53 |
2249 |
Controversy with other publications. Excluded from the consensus |
Chronic Myelocytic Leukemia |
289 |
CTC |
CAC |
Leu |
His |
SM |
CG3 |
2 |
356 |
Single report |
136 |
CAA |
ins1a |
Gln |
Fs. |
SM |
K-562 |
1 |
269 |
Confirmed in another publication |
301 |
CCA |
DEL1 |
Pro |
Fs. |
SM |
KCL-22 |
2 |
150 |
Single report |
248 |
CGG |
CAG |
Arg |
Gln |
SM |
KYO-1 |
883 |
150 |
Single report |
319 |
AAG |
TAG |
Lys |
Stop |
SM |
LAMA-84 |
5 |
2249 |
Mutation in COSMIC database |
Erythroleukemia |
274 |
GTT |
GAT |
Val |
Asp |
SM |
OCIM2 |
8 |
12 |
Single report |
|
|
|
|
|
|
|
|
|
|
Hodgkin disease |
175 |
CGC |
CAC |
Arg |
His |
DMD |
CO |
1187 |
55 |
Single report |
282 |
CGG |
TGG |
Arg |
Trp |
DMD |
CO |
600 |
55 |
Single report |
232 |
ATC |
del11c |
Ile |
Fs. |
SM |
HD-MY-Z |
1 |
2249 |
Mutation in COSMIC database |
Lymphoid leukemia |
273 |
CGT |
TGT |
Arg |
Cys |
SM |
RPMI-8402 |
687 |
163 |
Single report |
|
|
|
|
|
|
|
|
|
|
Mantle Cell Lymphoma |
147 |
GTT |
GGT |
Val |
Gly |
SM |
Mino |
8 |
1842 |
Single report |
Merkel cell carcinoma |
241 |
TCC |
TTT |
Ser |
Phe |
DMU |
MCC13 |
6 |
2088 |
Single report |
278 |
CCT |
TCT |
Pro |
Ser |
DMU |
MCC13 |
87 |
2088 |
Single report |
272 |
GTG |
GAG |
Val |
Glu |
SM |
MCC14/2 |
12 |
2088 |
Single report |
Multiple Myeloma |
255 |
ATC |
del6b |
Ile |
InF |
SM |
MEF-1 |
2 |
1363 |
Single report |
Myelodysplastic synd. |
248 |
CGG |
CAG |
Arg |
Gln |
SM |
SKM-1 |
883 |
1363 |
Single report |
Myeloid leukemia |
175 |
CGC |
CAC |
Arg |
His |
SM |
KY821 |
1187 |
126 |
wt in COSMIC |
251 |
ATC |
DEL1B |
Ile |
Fs. |
SM |
TF-1 |
5 |
126 |
Single report |
174 |
AGG |
DEL26A |
Arg |
Fs. |
SM |
THP-1 |
1 |
126 |
Confirmed in another publication |
172 |
GTT |
DEL46A |
Val |
Fs. |
SM |
U937 |
2 |
126 |
Single report |
261 |
AGT |
DEL99A |
Ser |
InF |
SM |
UT7 |
1 |
126 |
Single report |
Myeloma |
273 |
CGT |
CAT |
Arg |
His |
SM |
ARH-77 |
780 |
2249 |
Mutation in COSMIC database |
132 |
AAG |
AAC |
Lys |
Asn |
SM |
EJM |
33 |
98 |
Single report |
143 |
GTG |
ATG |
Val |
Met |
SM |
HD-70 |
34 |
1004 |
Single report |
337 |
CGC |
CTC |
Arg |
Leu |
SM |
KMS-12-PE |
9 |
2249 |
Mutation in COSMIC database |
261 |
AGT |
ACT |
Ser |
Thr |
SM |
L-363 |
1 |
2249 |
Mutation in COSMIC database |
184 |
GAT |
TAT |
Asp |
Tyr |
SM |
LB 831 |
5 |
98 |
Single report |
286 |
GAA |
AAA |
Glu |
Lys |
SM |
LP-1 |
86 |
2249 |
Mutation in COSMIC database |
285 |
GAG |
AAG |
Glu |
Lys |
SM |
RPMI-8226 |
165 |
98 |
Single report |
161 |
GCC |
ACC |
Ala |
Thr |
SM |
U266 |
75 |
98 |
Single report |
126 |
TAC |
AAC |
Tyr |
Asn |
SM |
XG-1 |
6 |
98 |
Single report |
176 |
TGC |
TAC |
Cys |
Tyr |
SM |
XG-2 |
88 |
98 |
Single report |
181 |
CGC |
TGC |
Arg |
Cys |
SM |
XG-4 |
28 |
98 |
Single report |
282 |
CGG |
TGG |
Arg |
Trp |
SM |
XG-5 |
600 |
98 |
Single report |
NK-Leukemia |
248 |
CGG |
TGG |
Arg |
Trp |
SM |
KHYG-1 |
728 |
1125 |
Single report |
Non-Hodgkin's Lymphomas |
237 |
ATG |
ATA |
Met |
Ile |
DMD |
OCI-Ly4 |
123 |
517 |
Single report |
248 |
CGG |
CAG |
Arg |
Gln |
DMD |
OCI-Ly4 |
883 |
517 |
Single report |
248 |
CGG |
CAG |
Arg |
Gln |
SM |
WSU-NHL |
883 |
2249 |
Mutation in COSMIC database |
T-cell Acute Lymphoblastic Leukemia |
37 |
TCC |
CCC |
Ser |
Pro |
MM |
CCRF-CEM-VLB100 |
1 |
1703 |
Single report |
175 |
CGC |
CAC |
Arg |
His |
MM |
CCRF-CEM-VLB100 |
1187 |
1703 |
Single report |
248 |
CGG |
CAG |
Arg |
Gln |
MM |
CCRF-CEM-VLB100 |
883 |
1703 |
Single report |
196 |
CGA |
TGA |
Arg |
Stop |
DMU |
J-RT3-T3-5 |
241 |
2249 |
Mutation in COSMIC database |
360 |
GGG |
del1a |
Gly |
Fs. |
DMU |
J-RT3-T3-5 |
2 |
2249 |
Mutation in COSMIC database |
196 |
CGA |
TGA |
Arg |
Stop |
MM |
JURKAT |
241 |
3 |
Single report |
256 |
ACA |
GCA |
Thr |
Ala |
MM |
JURKAT |
9 |
3 |
Single report |
259 |
GAC |
GGC |
Asp |
Gly |
MM |
JURKAT |
6 |
3 |
Single report |
260 |
TCC |
GCC |
Ser |
Ala |
MM |
JURKAT |
4 |
3 |
Single report |
272 |
GTG |
ATG |
Val |
Met |
SM |
Loucy |
105 |
1510 |
Single report |
273 |
CGT |
CAT |
Arg |
His |
SM |
MOLT-13 |
780 |
2249 |
Mutation in COSMIC database |
237 |
ATG |
AGG |
Met |
Arg |
DMU |
MOLT-16 |
8 |
3 |
wt in COSMIC |
244 |
GGC |
TGC |
Gly |
Cys |
DMU |
MOLT-16 |
53 |
3 |
wt in COSMIC |
111 |
CTG |
GTG |
Leu |
Val |
SM |
MOLT-4 |
1 |
2242 |
Controversy with other publications |
248 |
CGG |
CAG |
Arg |
Gln |
SM |
MOLT-4 |
883 |
27 |
Controversy with other publications |
306 |
CGA |
TGA |
Arg |
Stop |
SM |
MOLT-4 |
160 |
2249 |
Controversy with other publications |
11 |
GAG |
CAG |
Glu |
Gln |
MM |
P12-ICHIKAWA |
10 |
2249 |
Mutation in COSMIC database |
248 |
CGG |
CCG |
Arg |
Pro |
MM |
P12-ICHIKAWA |
23 |
2249 |
Mutation in COSMIC database |
248 |
CGG |
CAG |
Arg |
Gln |
MM |
P12-ICHIKAWA |
883 |
2249 |
Mutation in COSMIC database |
273 |
CGT |
TGT |
Arg |
Cys |
SM |
PF-382 |
687 |
2249 |
Mutation in COSMIC database |
248 |
CGG |
CAG |
Arg |
Gln |
MM |
SUP-T1 |
883 |
2249 |
Mutation in COSMIC database |
267 |
CGG |
CTG |
Arg |
Leu |
MM |
SUP-T1 |
1 |
2249 |
Mutation in COSMIC database |
273 |
CGT |
CAT |
Arg |
His |
MM |
SUP-T1 |
780 |
2249 |
Mutation in COSMIC database |
T-cell leukemia |
278 |
CCT |
TCT |
Pro |
Ser |
SM |
ATL1K |
87 |
82 |
Single report |
175 |
CGC |
GGC |
Arg |
Gly |
SM |
HATL |
27 |
323 |
Single report |
176 |
TGC |
TAC |
Cys |
Tyr |
SM |
MT1 |
88 |
82 |
Single report |
T-cell Lymphoma |
196 |
CGA |
TGA |
Arg |
Stop |
SM |
HUT78 |
241 |
3 |
Single report |