Tuesday, 27 June 2017

THE NCI-60 PANEL

THE NCI-60 PANEL

Cell lines with an inconclusive p53 status are shown in red.
more information can be found here: Berglind et al., in press: download the manuscript
Cell line
ATCC number
DNA
Protein
ref
consensus
comment
LYMPHOMA LEUKEMIA
CCRF-CEMCCL-119 R248Q1018
R175H+R248Q
Two mutations in separate alleles
c.524G>A, c.743G>AR175H+R248Q3
c.524G>A, c.743G>AR175H+R248Q2249
HL-60CCL-240 R248L1018
p53 null
 
nullp.M1_*394del3000
nullp.M1_*394del2249
K-562CCL-243c.406_407insCp.Q136fs*13269
p.Q136fs*13
p53 RNA and protein are undetectable in this cell line
c.406_407insCp.Q136fs*132249
MOLT-4CRL-1582wt 3
Inconclusive
The status of MOLT-4 is highly heterogeneous in the literature. The report of a wt status could be due to the fact that only exons 5 to 8 (residues 126-306) were screened in several publications
wt 1018
c.331C>GL111V2242
c.743G>AR248Q27
c.916C>TR306X2249
RPMI-8226CCL-155 R285L1018
E285K
This mutant is temperature-sensitive
c.853G>AE285K2249
c.853G>AE285K98
SRCRL-2262wt 1018
wt
 
wt 2249
NSCLC
A549CCL-185wt 1018
wt
 
wt 16
wt 2249
EKVX del187-224 (exon 6) 1018
Inconclusive
Possible splicing defect. See below for more information
c.609_610GG>TTp.V203_E204>V2249
HOP-62  Ins 212-2251018
See below for more explanation
c.673-2A>G  (splice junction)p.?2249
HOP-92  p.R175L1018
R175L
 
c.524G>Tp.R175L2249
NCI-H226CRL-5826 P309A1018
Inconclusive
 
c.473G>TR158L92
 wt2249
NCI-H23CRL-5800c.738G>CR246I17
R246I
 
 R246I1018
c.738G>CR246I2249
NCI-H322M c.743G>TR248L92
R248L
 
 R248L1018
c.743G>TR248L2249
NCI-H460HTB-177wt 1018
wt
 
wt 2249
NCI-H522CRL-5810 191delG1018
p.P191fs*57
 
c.572_572delCp.P191fs*572249
c.572_572delCp.P191fs*5892
COLON
COLO-205CCL-222 G266E1018
Inconclusive
 
c.308_333>TAp.Y103_L111>L492
c.308_333>TA103del272249
HCC-2998  R213X1018
R213X
 
c.637C>TR213X2249
HCT-116CCL-247wt 1018
wt
 
wt 2249
HCT-15CCL-225c.722C>T, c.1101-2A>C  (splice junction)p.S241F, p.?2249
Inconclusive
 
 P153A1018
c.722C>TS241F2251
HT-29HTB-38c.818G>AR273H492
R273H
 
c.818G>AR273H2249
KM12  H179R1018
Inconclusive
 
c.215delGp.R72fs*512249
SW620CCL-227c.818G>A, c.925C>TR273H, P309S9
R273H + P309S
SW480 and SW620 are derived from the same individual with a similar p53 alteration. The P309S mutation is not always reported
 R273H1018
c.818G>A, c.925C>TR273H, P309S2249
CENTRAL NERVOUS SYSTEN
SF268 c.818G>AR273H664
R273H
 
 R273H1018
c.818G>AR273H2249
SF295  p.R248Q1018
R248Q
 
c.743G>Ap.R248Q2249
SF539 wt 1018
Inconclusive
 
c.1024delCp.R342fs*32249
SNB75  E258K1018
E258K
 
c.772G>AE258K2249
U251/SNB19 c.818G>AR273H632
R273H
 
 R273H1018
c.818G>AR273H2249
MELANOMA
LOXIMV1 wt 1018
wt
 
wt 2249
Malme-3MHTB-64wt 1018
wt
 
wt 2249
M14  G266E1018
G266E
 
c.797G>AG266E2249
SK-MEL-2HTB-68 G245S1018
G245S
 
c.733G>AG245S2249
SK-MEL-28HTB-72c.434_435TG>GTL145R2249
L145R
 
c.434T>GL145R1570
 C145V1018
SK-MEL-5HTB-70wt 1018
wt
 
wt 2249
UACC-257 wt 1018
wt
 
wt 2249
UACC-62 wt 1018
wt
 
  2249
MDA-MB-435  G266E1018
G266E
This cell line was originally reported as a breast carcinoma cell line but recent SNP analysis indicates that it is similar to the M14 melanoma cell line
c.797G>AG266E2029
c.797G>AG266E2249
MDA-N  G266E1018
G266E
This cell line was originally reported as a breast carcinoma cell line but recent SNP analysis indicates that it is similar to the M14 melanoma cell line.  It is a derivative of MDA-MB-435 tranfected with a plasmid expressing erbB2
OVARY
IGROV1 wt 1018
Inconclusive
 
wt 606
c.377A>GY126C2249
OVCAR-3HTB-161c.743G>AR248Q144
R248Q
 
 R248Q1018
c.743G>AR248Q2249
OVCAR-4 wt 1018
Inconclusive
 
c.388C>GL130V2249
OVCAR-5  ins2241018
Inconclusive
 
wt 2249
OVCAR-8 c.376-1G>A 2249
Splicing defect
See below for more explanation
 del 126-1321018
NCI/ADR-RES c.376-1G>A 2249
Splicing defect
Originally named MCF-7/AdrR cells,  later re-designated NCI/ADR-RES.  Was recently found to be identical to OVCAR-8
 del 126-1321018
 126del21983
SK-OV-3HTB-77 H179R1018
Inconclusive
p53 RNA and protein are undetectable in this cell line: see below for more explanation
c.267delCp.S90fs*332249
RENAL
786-0CRL-1932 P278A1018
Inconclusive
 
c.832C>G, c.560-2A>G  (splice junction)p.P278A, p.?2249
A498HTB-44wt 1018
wt
 
wt 2249
ACHNCRL-1611wt 1018
wt
 
wt 2249
CAKI-1HTB-46wt 1018
wt
 
wt 2249
RXF393  R175H1018
R175H
 
c.524G>AR175H2249
SN12C  E336X1018
E336X
 
c.1006G>TE336X2249
TK10  L264R1018
L264R
 
c.791T>GL264R2249
U031 wt 1018
wt
 
wt 2249
PROSTATE
DU-145HTB-81 P223L1018
P223L + V274F
See below for more explanation
c.820G>TV274F2249
c.668C>T + c.820G>TP223L + V274F3001
c.668C>T + c.820G>TP223L + V274F59
PC-3CRL-1435c.414delCp.K139fs*312249
p53 RNA and protein are undetectable in this cell line
 
 138del1018
c.414delC138del59
BREAST
BT-549HTB-122c.747G>CR249S24
R249S
 
 R249S1018
c.747G>CR249S2249
Hs 578THTB-126c.469G>TV157F76
V157F
 
c.469G>TV157F2249
 D157E1018
MCF7HTB-22wt 1018
wt
 
wt 249
MDA-MB-231HTB-26c.839G>AR280K24
R280K
 
 R280K1018
T47DHTB-133c.580C>TL194F9
L194F
 
c.580C>TL194F1018
In EKVX, the deletion of codon 187 to 224 detected on RNA-based analysis (ref 1018) corresponds exactly to the deletion of the entire exon 6, a strong argument for a splicing defect. Genomic analysis did not reveal a splicing defect but a tandem mutation at codons 203 and 204 in exon 6 (ref 2049). If the two cell lines analysed were really EKVX, this result suggests that a mutation at either codon 203 and/or 204 could affect p53 gene splicing
In OVCAR-8, the 126-132 deletion detected by the RNA-based assay (ref 1018) concerns the first six residues of exon 5. Genomic analysis (ref 2049) described a mutation in the acceptor site of exon 5 and a splicing defect leading to a shift of the normal donor site of exon 5 that skips 18 nucleotides (6 aa residues) in exon 5. Examination of the DNA sequence at codon 132 reveals an AG dinucleotide sequence preceded by a pyrimidine tract similar to those found in the splice donor sequence. The same situation is observed for NCI/ADR- RES that has been recently shown to be an ovarian carcinoma cell line originating from the same patient as OVCAR-8.
In HOP-62, RNA-based analysis (ref 1018) detected an insertion between codon 212-225 but no information about the insertion sequence was available. Codon 225 is at the boundary of exon 6 and intron 6 suggesting a splicing defect, as analysis at the genomic level (ref 2049) confirms the presence of a splice mutation in the acceptor signal of exon 6
In the majority of publications, the p53 status of the SK-OV-3 cell line is stated as “p53 null”. In fact, close examination of the original manuscript shows that the p53 gene in SK-OV-3 is not deleted and did not sustain any gross rearrangement but neither p53 RNA or protein are found. In these publications, no p53 mutations were found but the recent analysis performed at the Sanger Institute detected a deletion of a single nucleotide at position 267 (codon 90) (Ikediobi et al., 2006). It is therefore possible that nonsense-mediated mRNA decay (NMD) eliminates p53 aberrant mRNA. NMD has been observed in the human leukaemia cell line K562 where p53 is also inactivated via a 1 base pair insertion at nucleotide 136

Cell lines with a controversial p53 status

Cell lines with a controversial p53 status

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;
More information is available in the handbook
Table of references (available also in the handbook)

Pos.
WT
Mut
      AA
Mut
Comp
Name
NB
Cancer
Ref
Comments
237ATGATAMetIleSMWI-L2-NS123B-cell Leukemia637Controversy with other publications
330CTTCATLeuHisSMWI-L2-NS4B-cell Leukemia769Controversy with other publications
126TACTAGTyrStopSMEJ14Bladder carcinoma689Controversy with other publications
164AAGGAGLysGluSMEJ25Bladder carcinoma729Controversy with other publications
76GCAdel76AlaFs.SMFHS 738B11Bladder carcinoma561Single report
365CACCGCHisArgSMHT-11971Bladder carcinoma561wt in COSMIC
250CCCCTCProLeuSMHT-137653Bladder carcinoma561Confirmed in two other publications
261AGTdel137SerFs.DMUJ821Bladder carcinoma2249Controversy with other publications Deletion of exon 8
271GAGAAGGluLysMMJ8238Bladder carcinoma561Controversy with other publications undocumented 4th mutation (deletion 210 bp)
271GAGAAGGluLysMMJ8238Bladder carcinoma729Controversy with other publications
274GTTTTTValPheMMJ8232Bladder carcinoma561Controversy with other publications undocumented 4th mutation (deletion 210 bp)
274GTTTTTValPheMMJ8232Bladder carcinoma729Controversy with other publications
320AAGAACLysAsnMMJ825Bladder carcinoma561Controversy with other publications undocumented 4th mutation (deletion 210 bp)
320AAGAACLysAsnDMUJ825Bladder carcinoma2249Controversy with other publications
320AAGAACLysAsnMMJ825Bladder carcinoma729Controversy with other publications
183TCATGASerStopDMURT-11229Bladder carcinoma2249Controversy with other publications
248CGGCAGArgGlnSMRT-112883Bladder carcinoma1733Controversy with other publications
248CGGCAGArgGlnDMURT-112883Bladder carcinoma2249Controversy with other publications
110CGTCTTArgLeuSMSD28Bladder carcinoma294Controversy with other publications
116TCTTGTSerCysSMSD3Bladder carcinoma689Controversy with other publications
126TACTAGTyrStopSMT-2414Bladder carcinoma689Controversy with other publications
126TACdel3aTyrInFSMT-241Bladder carcinoma561Controversy with other publications
126TACTAGTyrStopDMUVM-CUB-114Bladder carcinoma2249Controversy with other publications
175CGCCACArgHisSMVM-CUB-11187Bladder carcinoma689Controversy with other publications
175CGCCACArgHisDMUVM-CUB-11187Bladder carcinoma2249Controversy with other publications
158CGCCTCArgLeuDMUVM-CUB-292Bladder carcinoma689Controversy with other publications
158CGCCTCArgLeuSMVM-CUB-292Bladder carcinoma294Controversy with other publications
163TACTGCTyrCysDMUVM-CUB-2140Bladder carcinoma689Controversy with other publications
246ATGdel1cMetFs.SMBT-4831Breast carcinoma2029Controversy with other publications
246ATGATAMetIleSMBT-48333Breast carcinoma2091Controversy with other publications
204GAGins7cGluFs.SMMDA-MB-4361Breast carcinoma2029Controversy with other publications
273CGTCATArgHisSMMDA-MB-436780Breast carcinoma1367Controversy with other publications
213CGATGAArgStopSMDAUDI306Burkitt lymphoma44Controversy with other publications
266GGAGAAGlyGluSMDAUDI74Burkitt lymphoma2249Controversy with other publications
158CGCCACArgHisSMST486105Burkitt lymphoma44Consensus based on three puublications. Controversy with other publications Second mutation found by COSMIC
158CGCCACArgHisDMUST486105Burkitt lymphoma2249Controversy with other publications. Excluded from the consensus
239AACGACAsnAspDMUST48653Burkitt lymphoma2249Controversy with other publications. Excluded from the consensus
234TACTGCTyrCysSMCaR-1133Colorectal carcinoma1006Controversy with other publications. wt in COSMIC
272GTGATGValMetSMCaR-1105Colorectal carcinoma2051Controversy with other publications. wt in COSMIC
103TACdel27TyrInFSMCOLO-2051Colorectal carcinoma492Controversy with other publications
266GGAGAAGlyGluSMCOLO-20574Colorectal carcinoma1018Controversy with other publications
153CCCGCCProAlaSMHCT-155Colorectal carcinoma1018Controversy with other publications
241TCCTTCSerPheSMHCT-15101Colorectal carcinoma2251Controversy with other publications
72CCCdel1bProFs.SMKM121Colorectal carcinoma2249Controversy with other publications
179CATCGTHisArgSMKM12146Colorectal carcinoma1018Controversy with other publications
156CGCdel1aArgFs.DMURL95-23Endometrial tumor1625Controversy with other publications
218GTGdel3ValInFSMRL95-22Endometrial tumor64Controversy with other publications
218GTGdel3aValInFDMURL95-23Endometrial tumor1625Controversy with other publications
179CATCGTHisArgSMKYSE-450146Esophageal SCC634Controversy with other publications
339GAGTAGGluStopSMKYSE-45012Esophageal SCC2249Controversy with other publications
241TCCdel32cSerFs.SMKYSE-5101Esophageal SCC634Controversy with other publications
343GAGTAGGluStopSMKYSE-5105Esophageal SCC2249Controversy with other publications
110CGTCTTArgLeuSMTE-1128Esophageal SCC1006Controversy with other publications. wt in COSMIC
237ATGATTMetIleSMTE-1152Esophageal SCC1144Controversy with other publications. wt in COSMIC
251ATCCTCIleLeuDMUMKN-745Gastric carcinoma1006Controversy with other publications. wt in COSMIC
251ATCCTCIleLeuSMMKN-745Gastric carcinoma94Controversy with other publications. wt in COSMIC
271GAGGCGGluAlaDMUMKN-743Gastric carcinoma1006Controversy with other publications. wt in COSMIC
342CGAdel1aArgFs.SMSF-5395Gliomas2249Controversy with other publications
277TGTdel30CysInFSMUM-SCC-142Head and Neck SCC1019Controversy with other publications
277TGTdel30CysInFDMUUM-SCC-142Head and Neck SCC1636Controversy with other publications
280AGAAGTArgSerDMUUM-SCC-1414Head and Neck SCC1636Controversy with other publications
244GGCGCCGlyAlaSMHLE10Hepatocellular carcinoma1069Controversy with other publications
249AGGAGCArgSerSMHLE34Hepatocellular carcinoma230Controversy with other publications
272GTGATGValMetSMHLE105Hepatocellular carcinoma1006Controversy with other publications
237ATGAAGMetLysDMUSK-LMS-111Leyomyosarcoma2198Controversy with other publications
245GGCAGCGlySerSMSK-LMS-1440Leyomyosarcoma14Controversy with other publications
245GGCAGCGlySerDMUSK-LMS-1440Leyomyosarcoma2198Controversy with other publications
175CGCCACArgHisDMUSK-UT-11187Leyomyosarcoma2249Controversy with other publications
175CGCCACArgHisSMSK-UT-11187Leyomyosarcoma14Controversy with other publications
248CGGCAGArgGlnDMUSK-UT-1883Leyomyosarcoma2249Controversy with other publications
187GGTdel111GlyInFSMEKVX1Lung (NSCLC)1018Controversy with other publications
203GTGGTTValValSMEKVX2Lung (NSCLC)2249Controversy with other publications
204GAGTAGGluStopSMEKVX46Lung (NSCLC)2249Controversy with other publications
47CCGCTGProLeuSMNCI-H13733Lung (NSCLC)106Controversy with other publications
34CCCins1ProFs.DMUNCI-H1571Lung (NSCLC)1382Controversy with other publications
282CGGCCGArgProSMNCI-H15721Lung (NSCLC)2021Controversy with other publications
298GAGTAGGluStopSMNCI-H15771Lung (NSCLC)92Controversy with other publications
298GAGTAGGluStopDMUNCI-H15771Lung (NSCLC)1382Controversy with other publications
285GAGAAGGluLysSMNCI-H1703165Lung (NSCLC)92Controversy with other publications
209AGATGAArgStopSMNCI-H179314Lung (NSCLC)92Controversy with other publications
273CGTCATArgHisSMNCI-H1793780Lung (NSCLC)2249Controversy with other publications
158CGCCTCArgLeuSMNCI-H22692Lung (NSCLC)92Controversy with other publications
309CCCGCCProAlaSMNCI-H2261Lung (NSCLC)1018Controversy with other publications
249AGGAGCArgSerSMNCI-H32434Lung (NSCLC)678Controversy with other publications
249AGGAGCArgSerDMUNCI-H32434Lung (NSCLC)92Controversy with other publications
259GACGTCAspValDMUNCI-H32421Lung (NSCLC)92Controversy with other publications
248CGGTGGArgTrpSMPC-14728Lung (NSCLC)1382Controversy with other publications
248CGGCAGArgGlnSMPC-14883Lung (NSCLC)2242Controversy with other publications
280AGAAAAArgLysSMSK-MES-178Lung (NSCLC)1081Controversy with other publications. Excluded from the cosnensus
298GAGTAGGluStopSMSK-MES-171Lung (NSCLC)303Consensus based on three publications. Controversy with other publications
46TCCdel1bSerFs.DMUNCI-H10481Lung (SCLC)2249Controversy with other publications
273CGTTGTArgCysSMNCI-H1048687Lung (SCLC)22Controversy with other publications
273CGTTGTArgCysDMUNCI-H1048687Lung (SCLC)2249Controversy with other publications
258GAAAAAGluLysDMUMeWo73Melanoma2249Controversy with other publications
258GAAAAAGluLysSMMeWo73Melanoma1076Controversy with other publications
317CAGTAGGlnStopDMUMeWo25Melanoma2249Controversy with other publications
341TTCTTTPhePheSMMeWo4Melanoma2019Controversy with other publications
342CGATGAArgStopSMMeWo74Melanoma2019Controversy with other publications
239AACGACAsnAspSMPA-153Ovarian carcinoma854Controversy with other publications. wt in COSMIC
316CCCCCTProProSMPA-16Ovarian carcinoma144Controversy with other publications. wt in COSMIC
89CCCdel1aProFs.SMSK-OV-33Ovarian carcinoma2249Controversy with other publications
179CATCGTHisArgSMSK-OV-3146Ovarian carcinoma1018Controversy with other publications
262GGTGTTGlyValSMSW62614Ovarian carcinoma864Controversy with other publications
273CGTCATArgHisSMSW626780Ovarian carcinoma1011Controversy with other publications
134TTTdel1aPheFs.SMAsPC-14Pancreatic cancer397Consensus based on four publications. Controversy with other publications
273CGTCATArgHisSMASPC-1780Pancreatic cancer132Controversy with other publications. Excluded from the consensus
273CGTCATArgHisSMPanc-1780Pancreatic cancer178Consensus based on four publications. Controversy with one publication
273CGTTGTArgCysSMPanc-1687Pancreatic cancer177Controversy with other publications. Excluded from the cosnensus
223CCTCTTProLeuDMDDU-1455Prostate ca.59Consensus based on three publications. Controvery withy other publications (only one of the two mutations is found)
274GTTTTTValPheDMDDU-14532Prostate ca.59Consensus based on three publications. Controvery withy other publications (only one of the two mutations is found)
278CCTGCTProAlaDMU786-024Renal cell ca.1018Controversy with other publications. Splice in COSMIC
273CGTTGTArgCysSMRh30687Rhabdomyosarcoma1190Controversy with other publications
280AGAAGTArgSerSMRH3014Rhabdomyosarcoma97Controversy with other publications
111CTGGTGLeuValSMMOLT-41T-cell Acute Lymphoblastic Leu2242Controversy with other publications
248CGGCAGArgGlnSMMOLT-4883T-cell Acute Lymphoblastic Leu27Controversy with other publications
306CGATGAArgStopSMMOLT-4160T-cell Acute Lymphoblastic Leu2249Controversy with other publications

 

Gastric carcinoma

Gastric carcinoma

Table I : cell lines with wt p53
Cell line
ATCC
Reference
SNU-520 
747
SNU-719 
747
NUGC-4 
462
STKM-2 
1006
MKN-45 
462
MKN-74 
462
Table II : cell lines with p53 gene deletion or rearrangement
Cell lineATCCReference
KATO IIIHTB-103 
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
248CGGTGGArgTrpSM20M72871Single report
282CGGTGGArgTrpSMAKG6001393Single report
307GCAdel7bAlaFs.SMECC412249Mutation in COSMIC database
175CGCCACArgHisSMG42LATE11871393Single report
11GAGCAGGluGlnDMUGCIY102249Mutation in COSMIC database
179CATCAGHisGlnDMUGCIY142249Mutation in COSMIC database
104CAGTAGGlnStopSMGT3TKB182249Mutation in COSMIC database
145CTGCGGLeuArgSMH-111101689Single report
273CGTTGTArgCysSMH-1626871689Single report
128CCTdel37ProFs.SMH-3021689Single report
272GTGATGValMetSMH-551051689Single report
152CCGins1cProFs.SMHGC-2722249Mutation in COSMIC database
245GGCAGCGlySerSMHSC-394402087Single report
193CATCCTHisProSMHUG-1N182242Single report
173GTGATGValMetSMJR17794Single report
173GTGGCGValAlaSMKWS2094Single report
143GTGGCGValAlaSMMKN-12071Confirmed in another publication
251ATCCTCIleLeuSMMKN-28594Single report
278CCTTCTProSerSMMKN-7872087Single report
251ATCCTCIleLeuDMUMKN-7451006Controversy with other publications. wt in COSMIC
251ATCCTCIleLeuSMMKN-74594Controversy with other publications. wt in COSMIC
271GAGGCGGluAlaDMUMKN-7431006Controversy with other publications. wt in COSMIC
248CGGCAGArgGlnSMNCI-N8788346Single report
220TATTGTTyrCysSMNUGC-333694Confirmed in another publication
342CGATGAArgStopSMOKAJIMA7471Single report
57GACdel17AspFs.SMSK-GT-12462Single report
175CGCCACArgHisSMSK-GT-21187462Single report
281GACGAGAspGluSMSK-GT-526462Single report
205TATTTTTyrPheSMSNU-16346Single report
216GTGATGValMetSMSNU-21674747Single report
266GGAGAAGlyGluSMSNU-48474747Single report
143GTGdel1ValFs.SMSNU-55246Single report
273CGTCATArgHisSMSNU-601780747Single report
282CGGTGGArgTrpSMSNU-638600747Single report
215AGTAATSerAsnSMSNU-66815747Single report
273CGTTGTArgCysDMUTGBC11TKB6872249Mutation in COSMIC database
381AAAdel1aLysFs.DMUTGBC11TKB12249Mutation in COSMIC database
173GTGATGValMetSMTMK-17771Confirmed in another publication
175CGCCACArgHisSMYCC-3118746Single report