Tuesday, 27 June 2017

Pancreatic cancer

Pancreatic cancer


Table I : cell lines with wt p53
Cell line
ATCC
Reference
PK-45
1556
Table II : cell lines with p53 gene deletion or rearrangement
No data
Table III : cell lines with p53 splice mutation
(exonic mutations that modify splice are listed in table IV)
No data
Table IV: cell lines with p53 mutations (missense or frameshift)
More information is available in the handbook
Pos: Codon position (1 to 393);
WT: Normal base sequence of the codon in which the mutation occurred;
Mut Sequence of the mutated codon. If the mutation is a deletion or an insertion, it is indicated by "del" or "ins" followed by the number of deleted or inserted bases. The position in the codon is indicated by “a”, “b”, or “c” for the first, second or third base of the codon respectively. Example: "del66b" is a deletion of 66 bases including the second base of the codon; "ins4a" is an insertion of 4 bases occurring between the first and the second base of the codon. Label a, b, or c is omitted if the boundary of the deletion or insertion is unknown
AA: Wild type amino acid;
Mut: Mutant amino acid. Stop: nonsense mutation: Fs.: Frameshift mutation: InF: In-frame insertion or deletion;
Comp: complexity of the mutation: SM: Single mutational event in the tumor; DMU (Double Mutation Unknown): Two p53 mutations in the same tumor but their allelique distribution is unknown; DMD (Double Mutation Different allele): Two p53 mutations in the same tumor on two different p53 alleles; DMS (Double Mutation Same allele): Two p53 mutations in the same tumor on the same p53 allele: MM (Multiple Mutation): More than two p53 mutations in the same tumor;
NB: Number of tumors with this particular mutant in the database;
Ref: reference number;
Comments: information;
Table of references (available also in the handbook)

Pos.
WT
Mut
      AA
Mut
Comp
Name
NB
Ref
Comments
176TGCAGCCysSerSM890217428Single report
151CCCTCCProSerSM8988S92428Single report
134TTTdel1aPheFs.SMAsPC-14397Consensus based on four publications. Controversy with other publications
273CGTCATArgHisSMASPC-1780132Controversy with other publications. Excluded from the consensus
197GTGTTGValLeuSMBI51653Single report
275TGTTATCysTyrSMBJ871653Single report
220TATTGTTyrCysSMBxPC-3336176Consensus based on six publications. A single publication decsribes a second mutation (neutral mutation)
159GCCGTCAlaValSMCAPAN-150177Confirmed in two other publications. wt in COSMIC
273CGTCATArgHisSMcapan-2780132wt in COSMIC
242TGCCGCCysArgSMCFPAC-114397Single report
175CGCCACArgHisSMFAMPAC11872116Single report
272GTGTTGValLeuSMGer391653Single report
262GGTGTTGlyValSMH-74141689Single report
151CCCTCCProSerSMHPAF-II92177Confirmed in another publication
266GGAGAAGlyGluSMHPC-Y1974440Single report
193CATCGTHisArgSMHPC-Y2186440Single report
152CCGdel1aProFs.SMHPC-YO3440Single report
249AGGATGArgMetSMHs 700T64132Confirmed in another publication
181CGCCACArgHisSMHS766T34132Single report
282CGGTGGArgTrpSMHuP-T36002249Mutation in COSMIC database
255ATCACCIleThrSMHuP-T4192249Mutation in COSMIC database
130CTCGTCLeuValSMIMIM-PC-122177Single report
306CGATGAArgStopSMIMIM-PC-2160177Single report
132AAGAGGLysArgSMMCC1512000Single report
273CGTTGTArgCysSMMDA-Panc36871653Single report
248CGGTGGArgTrpSMMIA PaCa-2728177Confirmed in four other publications
209AGAdel2bArgFs.SMMZ1-PC142249Mutation in COSMIC database
282CGGTGGArgTrpSMMZ-PC-2600177Single report
135TGCTGGCysTrpSMMZ-PC-425177Single report
282CGGGGGArgGlySMPAN-03-JCK481556Single report
220TATTGTTyrCysSMPanc 89336176Single report
273CGTCATArgHisSMPanc-1780178Consensus based on four publications. Controversy with one publication
273CGTTGTArgCysSMPanc-1687177Controversy with other publications. Excluded from the cosnensus
255ATCAACIleAsnSMPANC-10-0562249Mutation in COSMIC database
176TGCAGCCysSerSMPanc-TU-I17176Confirmed in another publication
175CGCCACArgHisSMPC11871653Single report
176TGCAGCCysSerSMPC-4417428Single report
237ATGATAMetIleSMPCI-551231556Single report
237ATGATAMetIleSMPK-11231556Single report
167CAGTAGGlnStopSMPK-8401556Single report
213CGATGAArgStopSMPK-93061556Single report
255ATCACCIleThrSMPL 4519965Single report
132AAGCAGLysGlnSMPSN11438Single report
280AGAAAAArgLysSMPT4578178Single report
175CGCCACArgHisSMRWP-21187177Single report
282CGGTGGArgTrpSMSK-PC-1600177Single report
179CATCGTHisArgSMSK-PC-3146177Single report
175CGCCACArgHisSMSNU-21311871491Single report
238TGTTATCysTyrSMSNU-494981491Single report
245GGCAGCGlySerSMSU86.86440397Confirmed in another publication
273CGTCATArgHisSMSuit-27801653Single report
220TATTGTTyrCysSMT3M43361653Single report
273CGTCATArgHisSMUK Pan-1780659Single report
179CATCGTHisArgSMYAPC1462249Mutation in COSMIC database


Ovarian cancer

Ovarian cancer

Table I : cell lines with wt p53
Cell line
ATCC
Reference
KGN 
2249
A2780 
2249
RMG-1 
2249
CH1 
925
LK1 
925
LK2 
925

Table II : cell lines with p53 gene deletion or rearrangement
No data
Table III : cell lines with p53 splice mutation
(exonic mutations that modify splice are listed in table IV)
No data
Table IV: cell lines with p53 mutations (missense or frameshift)
More information is available in the handbook
Pos: Codon position (1 to 393);
WT: Normal base sequence of the codon in which the mutation occurred;
Mut Sequence of the mutated codon. If the mutation is a deletion or an insertion, it is indicated by "del" or "ins" followed by the number of deleted or inserted bases. The position in the codon is indicated by “a”, “b”, or “c” for the first, second or third base of the codon respectively. Example: "del66b" is a deletion of 66 bases including the second base of the codon; "ins4a" is an insertion of 4 bases occurring between the first and the second base of the codon. Label a, b, or c is omitted if the boundary of the deletion or insertion is unknown
AA: Wild type amino acid;
Mut: Mutant amino acid. Stop: nonsense mutation: Fs.: Frameshift mutation: InF: In-frame insertion or deletion;
Comp: complexity of the mutation: SM: Single mutational event in the tumor; DMU (Double Mutation Unknown): Two p53 mutations in the same tumor but their allelique distribution is unknown; DMD (Double Mutation Different allele): Two p53 mutations in the same tumor on two different p53 alleles; DMS (Double Mutation Same allele): Two p53 mutations in the same tumor on the same p53 allele: MM (Multiple Mutation): More than two p53 mutations in the same tumor;
NB: Number of tumors with this particular mutant in the database;
Ref: reference number;
Comments: information;
Table of references (available also in the handbook)
Pos.
WT
Mut
      AA
Mut
Comp
Name
NB
Ref
Comments
99TCCdel2bSerFs.SM61376Single report
316CCCCCTProProSM2226798Single report
273CGTCATArgHisSM2774780798Single report
172GTTTTTValPheSM2780CP19963Single report
193CATCTTHisLeuSMA. P.551011Single report
172GTTTTTValPheSMA2780-CP-2019798Single report
196CGATGAArgStopSMC. P./12411011Single report
193CATCGTHisArgSMC. V.861011Single report
136CAATAAGlnStopSMCaov-347144Single report
147GTTGATValAspSMCaov-47144Single report
213CGATGAArgStopSMDDL113061011Single report
124TGCCGCCysArgSMEFO-2142249Mutation in COSMIC database
273CGTTGTArgCysSMEFO-276872249Mutation in COSMIC database
143GTGdel32ValFs.SMEG1798Single report
195ATCACCIleThrSMF. P.901011Single report
194CTTCGTLeuArgSMG. C.661011Single report
306CGATGAArgStopSMG. M.1601011Single report
282CGGTGGArgTrpSMGBM6001011Single report
126TACTGCTyrCysSMIGROV-1172249wt in two other publications
270TTTTTAPheLeuDMDIGROV-1/Pt7606Single report
282CGGTGGArgTrpDMDIGROV-1/Pt600606Single report
281GACTACAspTyrSMKURAMOCHI16144Single report
126TACdel21aTyrInFSMNCI/ADR-RES6983Single report
273CGTCATArgHisSMOC-3147802249Mutation in COSMIC database
215AGTCGTSerArgSMOV 9041165Single report
126TACTGCTyrCysSMOV1P17925Single report
277TGTTTTCysPheSMOVCA 432481011Single report
248CGGCAGArgGlnSMOVCAR-3883144Single report
130CTCGTCLeuValSMOVCAR-4222249wt in another publication
224GAGins3GluInFSMOVCAR-51864wt in COSMIC
126TACdel18TyrInFSMOVCAR-81864Single report
239AACGACAsnAspSMPA-153854Controversy with other publications. wt in COSMIC
316CCCCCTProProSMPA-16144Controversy with other publications. wt in COSMIC
195ATCACCIleThrSMPM101590798Single report
275TGTTATCysTyrSMR. B.871011Single report
273CGTCATArgHisSMS. P.7801011Single report
89CCCdel1aProFs.SMSK-OV-332249Controversy with other publications
179CATCGTHisArgSMSK-OV-31461018Controversy with other publications
262GGTGTTGlyValSMSW62614864Controversy with other publications
273CGTCATArgHisSMSW6267801011Controversy with other publications
175CGCCACArgHisSMTOV 112D11871165Single report
175CGCCACArgHisSMTYK-nu11872249Mutation in COSMIC database

Non Small Cell Lung Cancer

Non Small Cell Lung Cancer

Table I : cell lines with wt p53

Cell lineATCCRef.essssssssCell lineATCCRef.
A-549CCL-1851006 NCI-H1944CRL-5907678
LU99 1006 NCI-H2023CRL-5912678
LU99A 1006 NCI-H2030CRL-5914678
LU99B 1006 NCI-H2077CRL-5919678
A427HTB-531382 NCI-H2126CRL-5925678
Ma-12 1382 NCI-H2347CRL-5942678
Ma-17 1382 NCI-H1395CRL-58682249
Ma-26 1382 NCI-H1563CRL-58752249
NCI-H460HTB-177678 NCI-H1650CRL-5883678
NCI-H726 678 NCI-H1666CRL-5885678
NCI-H838CRL-5844678 NCI-H1975CRL-59082249
NCI-H1385CRL-5867678 NCI-H2170CRL-59282249
NCI-H1568CRL-5876678 NCI-H2228CRL-59352249
NCI-H1570 678 NCI-H2342CRL-59412249
NCI-H1653 678 NCI-H2347CRL-59702249
NCI-H1725 678 NCI-H810CRL-5816678
       

Table II : cell lines with p53 gene deletion or rearrangement
Cell lineATCCReference
NCI-H1299CRL-5803 
H-358CRL5807 
Calu-1HTB-54 
Table III : cell lines with p53 splice mutation
(exonic mutations that modify splice are listed in table IV)
Cell lineATCCMutationreference
NCI-H648CRL-5834intron792
NCI-H1710 intron892
NCI-H920CRL-5850intron592
NCI-H1792CRL-5895c.672+1G>A92
Table IV: cell lines with p53 mutations (missense or frameshift)
More information is available in the handbook
Pos: Codon position (1 to 393);
WT: Normal base sequence of the codon in which the mutation occurred;
Mut Sequence of the mutated codon. If the mutation is a deletion or an insertion, it is indicated by "del" or "ins" followed by the number of deleted or inserted bases. The position in the codon is indicated by “a”, “b”, or “c” for the first, second or third base of the codon respectively. Example: "del66b" is a deletion of 66 bases including the second base of the codon; "ins4a" is an insertion of 4 bases occurring between the first and the second base of the codon. Label a, b, or c is omitted if the boundary of the deletion or insertion is unknown
AA: Wild type amino acid;
Mut: Mutant amino acid. Stop: nonsense mutation: Fs.: Frameshift mutation: InF: In-frame insertion or deletion;
Comp: complexity of the mutation: SM: Single mutational event in the tumor; DMU (Double Mutation Unknown): Two p53 mutations in the same tumor but their allelique distribution is unknown; DMD (Double Mutation Different allele): Two p53 mutations in the same tumor on two different p53 alleles; DMS (Double Mutation Same allele): Two p53 mutations in the same tumor on the same p53 allele: MM (Multiple Mutation): More than two p53 mutations in the same tumor;
NB: Number of tumors with this particular mutant in the database;
Ref: reference number;
Comments: information;
Table of references (available also in the handbook)

Pos.
WT
Mut
      AA
Mut
Comp
Name
NB
Ref
Comments
229TGTTGACysStopSM866MT616Single report
278CCTTCTProSerSMABC-1871382Single report
71CCCdel1ProFs.SMACC-LC-31921976Single report
281GACGGCAspGlySMACC-LC94161976Single report
209AGATGAArgStopSMCAEP141393Single report
135TGCTTCCysPheSMCAL-12T522249Mutation in COSMIC database
280AGAAAAArgLysSMCa-Lu-1781081Single report
237ATGATTMetIleSMCALU-3522249Mutation in COSMIC database
196CGATGAArgStopSMCALU624116Single report
175CGCCACArgHisSMCMRC-LCD11871382Single report
171GAGTAGGluStopSMEBC-1251382Single report
187GGTdel111GlyInFSMEKVX11018Controversy with other publications
203GTGGTTValValSMEKVX22249Controversy with other publications
204GAGTAGGluStopSMEKVX462249Controversy with other publications
273CGTTGTArgCysSMGLCA26871386Single report
248CGGCTGArgLeuDMUGLCP11241386Single report
349GAATAAGluStopDMUGLCP171386Single report
139AAGdel1cLysFs.SMHCC143811327Single report
154GGCGTCGlyValSMHCC2108651327Single report
234TACTGCTyrCysSMHCC22791331327Single report
175CGCCTCArgLeuSMHOP-92251018Confirmed in COSMIC database
132AAGAATLysAsnSMIGR-Heu232195Single report
249AGGAGTArgSerSMKNS-623892249Mutation in COSMIC database
237ATGATTMetIleSMLC-1-SQ52364Confirmed in another publication
241TCCTGCSerCysSMLC-2-ad362249Mutation in COSMIC database
216GTGTTGValLeuSMLCLC-103H132249Mutation in COSMIC database
248CGGCTGArgLeuSMLCMS1241382Single report
272GTGATGValMetSMLK-21051006Single report
11GAGCAGGluGlnSMLU-65101382Single report
273CGTCATArgHisSMLX-17801081Single report
248CGGTGGArgTrpSMLXF-2897282249Mutation in COSMIC database
248CGGCAGArgGlnSMMA18831382Confirmed in another publication
245GGCGTCGlyValSMMA-10841382Single report
282CGGTGGArgTrpSMMA146001574Single report
175CGCCACArgHisSMMA211871382Confirmed in another publication
337CGCTGCArgCysSMMA-24191382Single report
237ATGATAMetIleSMMA251231382Confirmed in another publication
121TCTdel1cSerFs.SMMA-2911382Single report
245GGCTGCGlyCysSMMA3861382Confirmed in another publication
245GGCGTCGlyValSMMA36841574Single report
273CGTCATArgHisSMNCI-H115578092Confirmed in two other publications
239AACins1bAsnFs.SMNCI-H1251678Single report
298GAGTAGGluStopSMNCI-H12647192Single report
248CGGTGGArgTrpSMNCI-H1284728678Single report
234TACTGCTyrCysSMNCI-H1304133678wt in COSMIC
224GAGGACGluAspSMNCI-H13341092Single report
285GAGAAGGluLysSMNCI-H135516592Confirmed in another publication
47CCGCTGProLeuSMNCI-H13733106Controversy with other publications
144CAGTAGGlnStopSMNCI-H14045392Single report
141TGCTGGCysTrpSMNCI-H14351192Single report
267CGGCCGArgProSMNCI-H14371992Confirmed in another publication
89CCCdel1ProFs.SMNCI-H1466392Single report
34CCCins1ProFs.DMUNCI-H15711382Controversy with other publications
282CGGCCGArgProSMNCI-H157212021Controversy with other publications
298GAGTAGGluStopSMNCI-H1577192Controversy with other publications
298GAGTAGGluStopDMUNCI-H157711382Controversy with other publications
248CGGCTGArgLeuSMNCI-H157312492Single report
144CAGTAGGlnStopSMNCI-H15815392wt in COSMIC
273CGTCTTArgLeuSMNCI-H162314792Single report
175CGCCACArgHisSMNCI-H16281187678Single report
35TTGins1bLeuFs.SMNCI-H1648192wt in COSMIC
176TGCTACCysTyrSMNCI-H16518892Single report
285GAGAAGGluLysSMNCI-H170316592Controversy with other publications
273CGTCTTArgLeuSMNCI-H173414792wt in COSMIC
242TGCTTCCysPheSMNCI-H17558892Single report
247AACAATAsnAsnSMNCI-H1770392249Mutation in COSMIC database
248CGGTGGArgTrpSMNCI-H17707282249Mutation in COSMIC database
157GTCTTCValPheSMNCI-H178117792Single report
209AGATGAArgStopSMNCI-H17931492Controversy with other publications
273CGTCATArgHisSMNCI-H17937802249Controversy with other publications
273CGTCTTArgLeuSMNCI-H18381472249Mutation in COSMIC database
237ATGATAMetIleSMNCI-H1869123678Single report
209AGATGAArgStopSMNCI-H19041492Single report
291AAGTAGLysStopSMNCI-H1915992Single report
242TGCTGGCysTrpSMNCI-H1993162249Mutation in COSMIC database
273CGTCTTArgLeuSMNCI-H200914792Single report
262GGTGTTGlyValSMNCI-H2030142249Mutation in COSMIC database
242TGCTGGCysTrpSMNCI-H20731692Single report
220TATTCTTyrSerSMNCI-H208620106Single report
157GTCTTCValPheSMNCI-H208717792Confirmed in another publication
248CGGTGGArgTrpSMNCI-H2106728106Single report
16CAGCTGGlnLeuDMUNCI-H212212249Mutation in COSMIC database
176TGCTTCCysPheDMUNCI-H21221912249Mutation in COSMIC database
62GAATAAGluStopSMNCI-H212682249Mutation in COSMIC database
161GCCACCAlaThrSMNCI-H22507592Single report
158CGCCTCArgLeuSMNCI-H2269292Controversy with other publications
309CCCGCCProAlaSMNCI-H22611018Controversy with other publications
154GGCGTCGlyValSMNCI-H2291652249Mutation in COSMIC database
246ATGATCMetIleSMNCI-H23617Confirmed in another publication
273CGTCATArgHisSMNCI-H24057802249Mutation in COSMIC database
248CGGCTGArgLeuSMNCI-H32212492Confirmed in another publication
249AGGAGCArgSerSMNCI-H32434678Controversy with other publications
249AGGAGCArgSerDMUNCI-H3243492Controversy with other publications
259GACGTCAspValDMUNCI-H3242192Controversy with other publications
158CGCCTCArgLeuSMNCI-H4419292Confirmed in another publication. wt in COSMIC
146TGGTGATrpStopSMNCI-H5205192wt in COSMIC
191CCTdel1aProFs.SMNCI-H522892Single report
245GGCTGCGlyCysSMNCI-H5968692Confirmed in another publication
164AAGAATLysAsnSMNCI-H650892Single report
215AGTATTSerIleSMNCI-H6612592wt in COSMIC
217GTGTTGValLeuDMUNCI-H676392Single report
248CGGCTGArgLeuDMUNCI-H67612492Single report
102ACCdel1ThrFs.SMNCI-H679192Single report
176TGCTGGCysTrpSMNCI-H7201992wt in COSMIC
162ATCins9cIleInFSMNCI-H72711707Single report
267CGGCCGArgProSMNCI-H73819678Single report
284ACACCAThrProSMNCI-H82010106Single report
285GAGAAGGluLysSMNCI-H85416592Single report
249AGGAGTArgSerSMOG563891976Single report
334GGGGTGGlyValSMPC-131382Single report
245GGCTGCGlyCysSMPC-1086364Single report
334GGGGTGGlyValSMPC-1331382Single report
248CGGTGGArgTrpSMPC-147281382Controversy with other publications
248CGGCAGArgGlnSMPC-148832242Controversy with other publications
282CGGTGGArgTrpSMPC-3600364Confirmed in another publication
214CATCGTHisArgSMPC-7691382Single report
248CGGCAGArgGlnSMPC-9883364Single report
104CAGTAGGlnStopSMPERF-LC-AI181976Single report
244GGCTGCGlyCysSMRAL531393Single report
113TTCTGCPheCysSMRERF-LOCK91382Single report
158CGCCTCArgLeuSMSK-LC-6921976Single report
193CATCGTHisArgSMSKLU18616Single report
280AGAAAAArgLysSMSK-MES-1781081Controversy with other publications. Excluded from the cosnensus
298GAGTAGGluStopSMSK-MES-171303Consensus based on three publications. Controversy with other publications
277TGTTTTCysPheSMSW12714816Single report
167CAGTAGGlnStopSMSW900402249Mutation in COSMIC database
347GCCACCAlaThrSMU-175232021Single report
175CGCdel1ArgFs.SMU-181032021Single report
175CGCCACArgHisSMVRMC-LCD11871976Single report
204GAGTAGGluStopSMY-ML-1B461867Single report

Leukemia / Lymphoma

Leukemia / Lymphoma

Table I : cell lines with wt p53

Cell line
ATCC
Origin
Ref
J-111 AML1006
IM-9CCL-159CML-B1006
ML-1 CML 
KMS-12-BM Myeloma1006
KMS-12-PE Myeloma1006
RPMI-1788CCL156Myeloma1006
Ly3 Diffuse large cell lymphoma613
DHL4 Diffuse large cell lymphoma613
JJN-3 Myeloma98
XG-3 Myeloma98
PL-21 Myeloid Leukemia126
ALL-B ALL1303
ALL-G ALL1303
ALL-K ALL1303
NGR ALL1303
SCO-1 ALL1303
BRE ALL1303
HAU ALL1303
WMN Burkitt lymphoma447
FWL Lymphoblastoid447
NL2 Lymphoblastoid447
AG876 Burkitt lymphoma447
SHO Burkitt lymphoma447
JLP119 Burkitt lymphoma447
EW36 Burkitt lymphoma447
RehCRL-8286ALL1627
UoC-B1 ALL1627
UoC-B3 ALL1627
UoC-B4 ALL1627
UoC-B11 ALL1627
SUP-B7 ALL1627
SUP-B13 ALL1627
SUP-B15 ALL1627
EU-1 ALL1627
EU-3 ALL1627

Table II : cell lines with p53 gene deletion or rearrangement
Cell line
ATCC
Origin
HL-60CCL-240promyelocytic leukemia
EU-4 ALL

Table III : cell lines with p53 splice mutation
(exonic mutations that modify splice are listed in table IV)
no data
Table IV: cell lines with p53 mutations (missense or frameshift)
More information is available in the handbook
Pos: Codon position (1 to 393);
WT: Normal base sequence of the codon in which the mutation occurred;
Mut Sequence of the mutated codon. If the mutation is a deletion or an insertion, it is indicated by "del" or "ins" followed by the number of deleted or inserted bases. The position in the codon is indicated by “a”, “b”, or “c” for the first, second or third base of the codon respectively. Example: "del66b" is a deletion of 66 bases including the second base of the codon; "ins4a" is an insertion of 4 bases occurring between the first and the second base of the codon. Label a, b, or c is omitted if the boundary of the deletion or insertion is unknown
AA: Wild type amino acid;
Mut: Mutant amino acid. Stop: nonsense mutation: Fs.: Frameshift mutation: InF: In-frame insertion or deletion;
Comp: complexity of the mutation: SM: Single mutational event in the tumor; DMU (Double Mutation Unknown): Two p53 mutations in the same tumor but their allelique distribution is unknown; DMD (Double Mutation Different allele): Two p53 mutations in the same tumor on two different p53 alleles; DMS (Double Mutation Same allele): Two p53 mutations in the same tumor on the same p53 allele: MM (Multiple Mutation): More than two p53 mutations in the same tumor;
NB: Number of tumors with this particular mutant in the database;
Ref: reference number;
Comments: information;
Table of references (available also in the handbook)

Pos.
WT
Mut
      AA
Mut
Comp
Name
NB
Ref
Comments
Acute Myelogenous Leukemia
306CGATGAArgStopSM2L11602048from patient RUPN84. Single report
236TACCACTyrHisMMCG213356Single report
237ATGGTGMetValMMCG214356Single report
248CGGCAGArgGlnMMCG2883356Single report
133ATGAAGMetLysSMHEL131006wt in COSMIC
248CGGTGGArgTrpSMK051728243Single report
248CGGTGGArgTrpSMK052728243Single report
248CGGCAGArgGlnSMKASUMI-18832249Mutation in COSMIC database
272GTGATGValMetSMKMOE-21052249Mutation in COSMIC database
241TCCCCCSerProSMML-1112198Single report
273CGTCATArgHisSMMONOMAC-17802198Single report
241TCCdel1cSerFs.SMNOMO-142249Mutation in COSMIC database
172GTTTTTValPheDMUOHN-GM192049Single report
238TGTTATCysTyrDMUOHN-GM982049Single report
195ATCACCIleThrSMSHI-1902207Single report
288AATTATAsnTyrSMYSK-2151710Single report
B-Acute Lymphoblastic Leukemia
109TTCTCCPheSerSMALL-A31303Single report
265CTGCCGLeuProSMALL-C231303Single report
248CGGCAGArgGlnSMALL-PO8832249Mutation in COSMIC database
109TTCTCCPheSerSMALL-W31303Single report
248CGGCAGArgGlnSMEU-108831627Single report
248CGGCAGArgGlnSMEU-118831627Single report
248CGGCAGArgGlnSMEU-138831627Single report
273CGTCTTArgLeuSMEU-181471627Single report
248CGGCAGArgGlnSMEU-2883617Single report
273CGTCTTArgLeuSMEU-6147617Single report
248CGGCAGArgGlnSMEU-7883617Single report
246ATGACGMetThrSMGR-ST132249Mutation in COSMIC database
124TGCTGACysStopSMHPB-ALL12198Single report
273CGTTGTArgCysSMKARPAS-456872249Mutation in COSMIC database
224GAGins5GluFs.SMKG-11126Single report
225GTTATTValIleSMKG-1a4163Single report
177CCCTCCProSerSMKMO-9019239Single report
245GGCAGCGlySerSMKOPM30440661Single report
245GGCCGCGlyArgSMKOPN3220661Single report
257CTGGTGLeuValSMKOPN357661Single report
282CGGins2bArgFs.SMKOPN491661Single report
209AGAins4bArgFs.SMKOPN631661Single report
175CGCTGCArgCysMMSCMC-L928478Single report
248CGGCAGArgGlnMMSCMC-L9883478Single report
358GAGAAGGluLysMMSCMC-L91478Single report
246ATGACGMetThrSMTanoue132242Single report
175CGCCACArgHisSMTMBL-111871967Single report
220TATTGTTyrCysSMU-698-M3362249Mutation in COSMIC database
B-cell Leukemia
281GACGGCAspGlySMBALL-1162242Single report
248CGGCTGArgLeuSMHL-60(TB)1241018Single report
132AAGAGGLysArgSMKU812511006wt in COSMIC
285GAGAAGGluLysSMRPMI-82261651018Single report
237ATGATAMetIleSMWI-L2-NS123637Controversy with other publications
330CTTCATLeuHisSMWI-L2-NS4769Controversy with other publications
B-cell Lymphoma
280AGACGAArgArgSM211098Single report
127TCCTTCSerPheSM3301098Single report
176TGCTCCCysSerSM5131098Single report
248CGGCAGArgGlnSM68831098Single report
273CGTTGTArgCysSM86871098Single report
274GTTCTTValLeuSM9161098Single report
213CGACAAArgGlnDMDA3/KAW383Single report
234TACCACTyrHisDMDA3/KAW253Single report
283CGCCACArgHisSMDG-75191143Single report
216GTGATGValMetDMUHT742249Mutation in COSMIC database
273CGTCATArgHisDMUHT7802249Mutation in COSMIC database
158CGCCACArgHisDMULY1105613Single report
176TGCGGCCysGlyDMULY17613Single report
238TGTCGTCysArgSMLY1726613Single report
176TGCTTCCysPheSMLY2191613Single report
245GGCGACGlyAspSMLY7171613Single report
282CGGCCGArgProSMLY8 C321613Single report
B-Lineage Diffuse Large Cell Leukemia
248CGGCAGArgGlnSMDB8832249Mutation in COSMIC database
273CGTTGTArgCysSMKARPAS-2996872249Mutation in COSMIC database
319AAGTAGLysStopSMKARPAS-42252249Mutation in COSMIC database
Burkitt lymphoma
273CGTTGTArgCysSMAbana6872247Single report
190CCTdel1ProFs.SMAKATA175Single report
248CGGCAGArgGlnSMAKUA883447Single report
206TTGdel1LeuFs.SMAS283A244Single report
193CATCGTHisArgSMBJAB8675Single report
273CGTTGTArgCysSMBL-11368744Single report
246ATGACGMetThrSMBL-301375Single report
237ATGATAMetIleSMBL-3712344Single report
248CGGCAGArgGlnSMBL-4188375Single report
176TGCTACCysTyrDMUBL-498844Single report
248CGGTGGArgTrpDMUBL-4972844Single report
282CGGTGGArgTrpSMBL-6060044Single report
273CGTTGTArgCysSMBL-706872249Mutation in COSMIC database
213CGATGAArgStopSMBL-9930644Single report
248CGGCAGArgGlnSMCA46883447Single report
175CGCCACArgHisSMCW678118744Single report
213CGATGAArgStopSMDAUDI30644Controversy with other publications
266GGAGAAGlyGluSMDAUDI742249Controversy with other publications
248CGGCAGArgGlnSMDH9788831030Single report
206TTGdel1LeuFs.SMEB3244Single report
152CCGCTGProLeuDMDGA-10911819Single report
232ATCAACIleAsnDMDGA-10131819Single report
234TACTGCTyrCysSMJD3813344Confirmed in another publication
132AAGCAGLysGlnSMJIYOYE1475Confirmed in another publication
248CGGCAGArgGlnSMKK1248831007Single report
248CGGCAGArgGlnSMKK12588344Single report
238TGTTATCysTyrSMLOUCKES9875Confirmed in another publication
238TGTTATCysTyrSMMC1169844Confirmed in another publication
248CGGCAGArgGlnSMNAMALWA88375Confirmed in three other publications
163TACCACTyrHisDMUP3HR12644Confirmed in two other publications
287GAGTAGGluStopDMUP3HR11444Confirmed in two other publications
273CGTTGTArgCysSMPP98468744Single report
213CGACAAArgGlnDMDRAJI38161Confirmed in another publication Some publications described only one of the two mutations
234TACCACTyrHisDMDRAJI25161Confirmed in another publication Some publications described only one of the two mutations
254ATCGACIleAspSMRAMOS344Confirmed in three other publications
175CGCins3aArgInFSMSG5681447Single report
158CGCCACArgHisSMST48610544Consensus based on three puublications. Controversy with other publications Second mutation found by COSMIC
158CGCCACArgHisDMUST4861052249Controversy with other publications. Excluded from the consensus
239AACGACAsnAspDMUST486532249Controversy with other publications. Excluded from the consensus
Chronic Myelocytic Leukemia
289CTCCACLeuHisSMCG32356Single report
136CAAins1aGlnFs.SMK-5621269Confirmed in another publication
301CCADEL1ProFs.SMKCL-222150Single report
248CGGCAGArgGlnSMKYO-1883150Single report
319AAGTAGLysStopSMLAMA-8452249Mutation in COSMIC database
Erythroleukemia
274GTTGATValAspSMOCIM2812Single report
Hodgkin disease
175CGCCACArgHisDMDCO118755Single report
282CGGTGGArgTrpDMDCO60055Single report
232ATCdel11cIleFs.SMHD-MY-Z12249Mutation in COSMIC database
Lymphoid leukemia
273CGTTGTArgCysSMRPMI-8402687163Single report
Mantle Cell Lymphoma
147GTTGGTValGlySMMino81842Single report
Merkel cell carcinoma
241TCCTTTSerPheDMUMCC1362088Single report
278CCTTCTProSerDMUMCC13872088Single report
272GTGGAGValGluSMMCC14/2122088Single report
Multiple Myeloma
255ATCdel6bIleInFSMMEF-121363Single report
Myelodysplastic synd.
248CGGCAGArgGlnSMSKM-18831363Single report
Myeloid leukemia
175CGCCACArgHisSMKY8211187126wt in COSMIC
251ATCDEL1BIleFs.SMTF-15126Single report
174AGGDEL26AArgFs.SMTHP-11126Confirmed in another publication
172GTTDEL46AValFs.SMU9372126Single report
261AGTDEL99ASerInFSMUT71126Single report
Myeloma
273CGTCATArgHisSMARH-777802249Mutation in COSMIC database
132AAGAACLysAsnSMEJM3398Single report
143GTGATGValMetSMHD-70341004Single report
337CGCCTCArgLeuSMKMS-12-PE92249Mutation in COSMIC database
261AGTACTSerThrSML-36312249Mutation in COSMIC database
184GATTATAspTyrSMLB 831598Single report
286GAAAAAGluLysSMLP-1862249Mutation in COSMIC database
285GAGAAGGluLysSMRPMI-822616598Single report
161GCCACCAlaThrSMU2667598Single report
126TACAACTyrAsnSMXG-1698Single report
176TGCTACCysTyrSMXG-28898Single report
181CGCTGCArgCysSMXG-42898Single report
282CGGTGGArgTrpSMXG-560098Single report
NK-Leukemia
248CGGTGGArgTrpSMKHYG-17281125Single report
Non-Hodgkin's Lymphomas
237ATGATAMetIleDMDOCI-Ly4123517Single report
248CGGCAGArgGlnDMDOCI-Ly4883517Single report
248CGGCAGArgGlnSMWSU-NHL8832249Mutation in COSMIC database
T-cell Acute Lymphoblastic Leukemia
37TCCCCCSerProMMCCRF-CEM-VLB10011703Single report
175CGCCACArgHisMMCCRF-CEM-VLB10011871703Single report
248CGGCAGArgGlnMMCCRF-CEM-VLB1008831703Single report
196CGATGAArgStopDMUJ-RT3-T3-52412249Mutation in COSMIC database
360GGGdel1aGlyFs.DMUJ-RT3-T3-522249Mutation in COSMIC database
196CGATGAArgStopMMJURKAT2413Single report
256ACAGCAThrAlaMMJURKAT93Single report
259GACGGCAspGlyMMJURKAT63Single report
260TCCGCCSerAlaMMJURKAT43Single report
272GTGATGValMetSMLoucy1051510Single report
273CGTCATArgHisSMMOLT-137802249Mutation in COSMIC database
237ATGAGGMetArgDMUMOLT-1683wt in COSMIC
244GGCTGCGlyCysDMUMOLT-16533wt in COSMIC
111CTGGTGLeuValSMMOLT-412242Controversy with other publications
248CGGCAGArgGlnSMMOLT-488327Controversy with other publications
306CGATGAArgStopSMMOLT-41602249Controversy with other publications
11GAGCAGGluGlnMMP12-ICHIKAWA102249Mutation in COSMIC database
248CGGCCGArgProMMP12-ICHIKAWA232249Mutation in COSMIC database
248CGGCAGArgGlnMMP12-ICHIKAWA8832249Mutation in COSMIC database
273CGTTGTArgCysSMPF-3826872249Mutation in COSMIC database
248CGGCAGArgGlnMMSUP-T18832249Mutation in COSMIC database
267CGGCTGArgLeuMMSUP-T112249Mutation in COSMIC database
273CGTCATArgHisMMSUP-T17802249Mutation in COSMIC database
T-cell leukemia
278CCTTCTProSerSMATL1K8782Single report
175CGCGGCArgGlySMHATL27323Single report
176TGCTACCysTyrSMMT18882Single report
T-cell Lymphoma
196CGATGAArgStopSMHUT782413Single report