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 |
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