Breast carcinoma

Table I : cell lines with wt p53

Cell line	ATCC	Reference
MCF-7	HTB-22	2091
MCF10-2A
DU4475	HTB-123	2091
MDA-MB-175VII	HTB-25	2091
MPE600		2091
SK-BR-7		2091
SUM102PT		2091
UACC-812	CRL-1897	2091
ZR75-1	CRL-1500	2091
ZR75-30	CRL-1504	2091
HBL-100*		2029
MRK-NU-1		1006
YMB-1		1006
YMB-1-E		1006

*Positive for SV40

Table II : cell lines with p53 gene deletion or rearrangement

Cell line	ATCC	Reference
MDA- MB-157	HTB-24

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
179	CAT	AAT	His	Asn	SM	3522 S2	23	1017	Single report
266	GGA	TGA	Gly	Stop	SM	BRC-230	19	1393	Single report
132	AAG	CAG	Lys	Gln	SM	BT-20	14	24	Confirmed in another publication. wt in COSMIC
285	GAG	AAG	Glu	Lys	SM	BT-474	165	24	Confirmed in three other publications
246	ATG	del1c	Met	Fs.	SM	BT-483	1	2029	Controversy with other publications
246	ATG	ATA	Met	Ile	SM	BT-483	33	2091	Controversy with other publications
249	AGG	AGC	Arg	Ser	SM	BT-549	34	24	Single report
224	GAG	AAG	Glu	Lys	SM	CAL-148	8	2249	Mutation in COSMIC database
132	AAG	GAG	Lys	Glu	SM	CAL-85-1	25	2249	Mutation in COSMIC database
280	AGA	ACA	Arg	Thr	SM	CAMA-1	92	2029	wt in COSMIC
241	TCC	TGC	Ser	Cys	SM	EVSA-T	36	2091	wt in COSMIC
248	CGG	CAG	Arg	Gln	SM	H-31	883	1689	Single report
262	GGT	GTT	Gly	Val	SM	H-71	14	1689	Single report
281	GAC	CAC	Asp	His	SM	HCC1007	41	1396	Single report
281	GAC	TAC	Asp	Tyr	SM	HCC1008	16	2258
248	CGG	CAG	Arg	Gln	SM	HCC1143	883	2249	Mutation in COSMIC database
248	CGG	CAG	Arg	Gln	SM	HCC1143	883	2258
108	GGT	del3b	Gly	InF	SM	HCC1187	1	2258
108	GGT	del3a	Gly	InF	SM	HCC1187	1	2249	Mutation in COSMIC database
175	CGC	CAC	Arg	His	SM	HCC1395	1187	1396	Single report
175	CGC	CAC	Arg	His	SM	HCC1395	1187	2258
74	GCC	del6a	Ala	InF	DMU	HCC1419	1	2249	Mutation in COSMIC database
220	TAT	TGT	Tyr	Cys	DMU	HCC1419	336	2249	Mutation in COSMIC database
294	GAG	TAG	Glu	Stop	SM	HCC1569	54	1396	Single report
256	ACA	ins2	Thr	Fs.	SM	HCC1806	2	1396	Single report
306	CGA	TGA	Arg	Stop	SM	HCC1937	160	1396	Confirmed in another publication
306	CGA	TGA	Arg	Stop	SM	HCC1937	160	2258
163	TAC	TGC	Tyr	Cys	SM	HCC1954	140	2258
163	TAC	TGC	Tyr	Cys	SM	HCC1954	140	2249	Mutation in COSMIC database
248	CGG	TGG	Arg	Trp	SM	HCC2157	728	2249	Mutation in COSMIC database
248	CGG	TGG	Arg	Trp	SM	HCC2157	728	2258
283	CGC	TGC	Arg	Cys	SM	HCC2218	27	1396	Single report
241	TCC	del1b	Ser	Fs.	SM	HCC2713	26	2258
213	CGA	TGA	Arg	Stop	SM	HCC2998	306	2249	Mutation in COSMIC database
273	CGT	CTT	Arg	Leu	SM	HCC38	147	1396	Single report
273	CGT	CTT	Arg	Leu	SM	HCC38	147	2258
248	CGG	CAG	Arg	Gln	SM	HCC70	883	1396	Single report
213	CGA	TGA	Arg	Stop	SM	HDQ-P1	306	1713	Single report
249	AGG	GGG	Arg	Gly	SM	HMT-3909	52	552	Single report
157	GTC	TTC	Val	Phe	SM	Hs 578T	177	76	Confirmed in two other publications
157	GTC	TTC	Val	Phe	SM	HS578T	177	2258
215	AGT	ATT	Ser	Ile	SM	L56BR-X1	25	1968	Single report
244	GGC	AGC	Gly	Ser	SM	MAST	72	1393	Single report
285	GAG	AAG	Glu	Lys	SM	MDA-MB-134-VI	165	2029	wt in COSMIC
261	AGT	del26a	Ser	Fs.	SM	MDA-MB-157	1	2029	wt in COSMIC
280	AGA	AAA	Arg	Lys	SM	MDA-MB-231	78	24	Confirmed in another publication
220	TAT	TGT	Tyr	Cys	SM	MDA-MB-330	336	2091	Single report
166	TCA	TAA	Ser	Stop	SM	MDA-MB-361	19	2029	wt in COSMIC
236	TAC	TGC	Tyr	Cys	SM	MDA-MB-415	75	2091	Single report
266	GGA	GAA	Gly	Glu	SM	MDA-MB-435	74	1018	Single report
204	GAG	ins7c	Glu	Fs.	SM	MDA-MB-436	1	2029	Controversy with other publications
273	CGT	CAT	Arg	His	SM	MDA-MB-436	780	1367	Controversy with other publications
368	CAC	del30	His	InF	SM	MDA-MB-453	1	147	wt in COSMIC
273	CGT	CAT	Arg	His	SM	MDA-MB-468	780	9	Confirmed in another publication
132	AAG	AGG	Lys	Arg	SM	MFM-223	51	2249	Mutation in COSMIC database
234	TAC	TAA	Tyr	Stop	SM	MW1C-6.3	10	147	Single report
244	GGC	AGC	Gly	Ser	SM	OCUB-F	72	2091	Single report
244	GGC	AGC	Gly	Ser	SM	OCUB-M	72	2249	Mutation in COSMIC database
277	TGT	TTT	Cys	Phe	SM	R11T	48	1806	Single report
136	CAA	TAA	Gln	Stop	SM	R18T	47	1806	Single report
273	CGT	TGT	Arg	Cys	SM	R30T	687	1806	Single report
175	CGC	CAC	Arg	His	SM	SK-BR-3	1187	76	Confirmed in another publication. wt in COSMIC
161	GCC	GAC	Ala	Asp	SM	SK-BR-5	19	2091	Single report
135	TGC	TTC	Cys	Phe	SM	SUM1315MO2	52	2091	Single report
237	ATG	ATA	Met	Ile	SM	SUM149PT	123	2091	Single report
158	CGC	ins3a	Arg	InF	SM	SUM159PT	1	2091	Single report
144	CAG	TAG	Gln	Stop	SM	SUM185PE	53	2091	Single report
317	CAG	TAG	Gln	Stop	SM	SUM190PT	25	2091	Single report
265	CTG	CCG	Leu	Pro	SM	SUM225CWN	23	2091	Single report
273	CGT	TGT	Arg	Cys	SM	SUM229PE	687	2091	Single report
213	CGA	TGA	Arg	Stop	SM	SUM52PE	306	2091	Single report
194	CTT	TTT	Leu	Phe	SM	T47D	28	9	Confirmed in another publication
342	CGA	TGA	Arg	Stop	SM	UACC-893	74	2029	Single report

Brain tumours

Table I : cell lines with wt p53

Cell line	ATCC	Origin	Reference
CHP-134*		Neuroblastoma
KG-1-C		Neuroblastoma	1006
GOTO		Neuroblastoma	1006
IMR-32*	CCL-127	Neuroblastoma
LAN-5*		Neuroblastoma
NB-1		Neuroblastoma	1006
NH-12		Neuroblastoma	1006
NH-6		Neuroblastoma	1006
SK-N-AS*	CRL-2137	Neuroblastoma
SH-SY5Y		Neuroblastoma
SK-N-SH*,**	HTB-11	Neuroblastoma
U-87-MG	HTB-14	Glioblastoma	2249
GM2300		Glioblastoma	1950
GM1578		Glioblastoma	1950
GM2455		Glioblastoma	1950
GM1600		Glioblastoma	1950
GM1592		Glioblastoma	1950
GM139		Glioblastoma	1950
GM2401		Glioblastoma	1950
SK-MG-11		Glioblastoma	698
SK-MG-15		Glioblastoma	698
V-MG-33		Glioblastoma	698

* Cytoplasmic p53
** a recent publication describes an abberant splice in this cell line leading to the expression of a 369 aa protein that lack the NLS (Nakamura Y, Ozaki T, Niizuma H, Ohira M, Kamijo T, Nakagawara A (2007) Functional characterization of a new p53 mutant generated by homozygous deletion in a neuroblastoma cell line. Biochem Biophys Res Commun 354: 892-898.)

Table II : cell lines with p53 gene deletion or rearrangement

Cell line	ATCC	Origin	Reference
LN-Z308		Glioblastoma

Table III : cell lines with p53 splice mutation
(exonic mutations that modify splice are listed in table IV)

No data available

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)

Astrocytoma
Pos.	WT	Mut	AA	Mut	Comp	Name	NB	Ref	Comments
115	CAT	TAT	His	Tyr	SM	440	2	491	Single report
55	ACT	ins1c	Thr	Fs.	SM	622	1	491	Single report
273	CGT	TGT	Arg	Cys	SM	8-MG-BA	687	2249	Mutation in COSMIC database
273	CGT	CAT	Arg	His	SM	B2-17	780	2249	Mutation in COSMIC database
248	CGG	TGG	Arg	Trp	SM	CAS-1	728	2249	Mutation in COSMIC database
248	CGG	TGG	Arg	Trp	SM	D-336MG	728	2249	Mutation in COSMIC database
245	GGC	AGC	Gly	Ser	SM	D-423MG	440	2249	Mutation in COSMIC database
245	GGC	AGC	Gly	Ser	SM	D-566MG	440	2249	Mutation in COSMIC database
239	AAC	ins3b	Asn	InF	SM	GB-1	1	2249	Mutation in COSMIC database
236	TAC	TGC	Tyr	Cys	SM	GMS-10	75	2249	Mutation in COSMIC database
245	GGC	AGC	Gly	Ser	DMU	KINGS-1	440	2249	Mutation in COSMIC database
248	CGG	CAG	Arg	Gln	DMU	KINGS-1	883	2249	Mutation in COSMIC database
175	CGC	CAC	Arg	His	SM	LN-319	1187	277	Single report
282	CGG	TGG	Arg	Trp	SM	LN-405	600	2249	Mutation in COSMIC database
110	CGT	CCT	Arg	Pro	SM	MOG-G-CCM	11	2249	Mutation in COSMIC database
159	GCC	GTC	Ala	Val	SM	MOG-G-UVW	50	2249	Mutation in COSMIC database
245	GGC	AGC	Gly	Ser	SM	no-10	440	2249	Mutation in COSMIC database
273	CGT	TGT	Arg	Cys	SM	no-11	687	2249	Mutation in COSMIC database
273	CGT	TGT	Arg	Cys	SM	SW1088	687	2249	Mutation in COSMIC database
273	CGT	TAT	Arg	Tyr	SM	SW1783	3	2249	Mutation in COSMIC database
238	TGT	GGT	Cys	Gly	SM	TM-31	10	1760	Single report
Glioblastoma
Pos.	WT	Mut	AA	Mut	Comp	Name	NB	Ref	Comments
273	CGT	TGT	Arg	Cys	SM	SJ-G2	687	1190	Single report
88	GCC	del1b	Ala	Fs.	SM	SJ-G3	1	1190	Single report
248	CGG	CAG	Arg	Gln	SM	SJ-G5	883	1190	Single report
242	TGC	TTC	Cys	Phe	SM	A-172	88	1397	wt in another publication
175	CGC	CAC	Arg	His	SM	A-7	1187	474	Single report
132	AAG	ATG	Lys	Met	SM	D456	9	472	Single report
195	ATC	ACC	Ile	Thr	SM	G-1163GM	90	2106	Single report
267	CGG	TGG	Arg	Trp	SM	G-1187GM	37	2106	Single report
248	CGG	TGG	Arg	Trp	SM	G123	728	370	Single report
105	GGC	AGC	Gly	Ser	SM	G-1265GM	1	2106	Single report
151	CCC	TCC	Pro	Ser	SM	G-1301M	92	2106	Single report
176	TGC	TAC	Cys	Tyr	SM	G-210GM	88	2106	Single report
179	CAT	GAT	His	Asp	SM	G-211GM	19	2106	Single report
249	AGG	ATG	Arg	Met	SM	G-599GM	64	2106	Single report
175	CGC	CAC	Arg	His	SM	G-750GM	1187	2106	Single report
175	CGC	CAC	Arg	His	SM	GM133	1187	1950	Single report
76	GCA	GGA	Ala	Gly	DMU	GM1596	9	1950	Single report
220	TAT	CAT	Tyr	His	DMU	GM1596	15	1950	Single report
163	TAC	TCC	Tyr	Ser	SM	GM2217	5	1950	Single report
248	CGG	TGG	Arg	Trp	SM	GM2313	728	1950	Single report
76	GCA	GGA	Ala	Gly	DMU	GM2328	9	1950	Single report
161	GCC	TCC	Ala	Ser	DMU	GM2328	5	1950	Single report
175	CGC	CAC	Arg	His	SM	GM2345	1187	1950	Single report
282	CGG	TGG	Arg	Trp	SM	GM2493	600	1950	Single report
237	ATG	ATA	Met	Ile	SM	GM47.23	123	987	Single report
175	CGC	CAC	Arg	His	SM	GM97	1187	1950	Single report
249	AGG	AGT	Arg	Ser	SM	GT9	389	1066	Single report
250	CCC	GCC	Pro	Ala	SM	GT9	14	1066	Single report
242	TGC	TTC	Cys	Phe	SM	LG	88	1397	Single report
238	TGT	TCT	Cys	Ser	SM	LN-18	10	277	Single report
164	AAG	GAG	Lys	Glu	SM	LN-229	25	277	Single report
197	GTG	CTG	Val	Leu	SM	LN382	2	2254	Single report
173	GTG	ATG	Val	Met	DMU	LN-428	77	277	Single report
282	CGG	TGG	Arg	Trp	DMU	LN-428	600	277	Single report
273	CGT	TGT	Arg	Cys	SM	SK-D1	687	698	Single report
173	GTG	CTG	Val	Leu	SM	SK-MG-16	23	698	Single report
255	ATC	ATT	Ile	Ile	SM	SK-MG-21	5	698	Single report
255	ATC	ATG	Ile	Met	SM	SK-MG-8	3	698	Single report
273	CGT	CAT	Arg	His	SM	SNB19	780	632	Confirmed in three other publications
237	ATG	ATA	Met	Ile	SM	T98G	123	277	Confirmed in two other publications. wt in COSMIC
213	CGA	CAA	Arg	Gln	SM	U118-MG	38	472	wt in COSMIC
232	ATC	ACC	Ile	Thr	DMU	U-138MG	15	1397	Single report
242	TGC	TTC	Cys	Phe	DMU	U-138MG	88	1397	Single report
273	CGT	CAT	Arg	His	SM	U251MG	780	2254	Single report
273	CGT	TGT	Arg	Cys	SM	V-MG-35/CE	687	698	Single report
218	GTG	GCG	Val	Ala	SM	V-MG-6	6	698	Single report
245	GGC	AGC	Gly	Ser	SM	D-542MG	440	2249	Mutation in COSMIC database
265	CTG	CCG	Leu	Pro	SM	GAMG	23	2249	Mutation in COSMIC database
241	TCC	TTC	Ser	Phe	SM	KALS-1	101	2249	Mutation in COSMIC database
342	CGA	TGA	Arg	Stop	SM	KNS-42	74	2249	Mutation in COSMIC database
286	GAA	AAA	Glu	Lys	SM	MO59J	86	1471	Single report
286	GAA	AAA	Glu	Lys	SM	MO59K	86	1471	Single report
266	GGA	GAA	Gly	Glu	SM	SF188	74	664	Single report
176	TGC	TAC	Cys	Tyr	SM	SF210	88	664	Single report
273	CGT	CAT	Arg	His	SM	SF268	780	664	Single report
248	CGG	CAG	Arg	Gln	SM	SF295	883	1018	Confirmed in COSMIC database
342	CGA	del1a	Arg	Fs.	SM	SF-539	5	2249	Controversy with other publications
258	GAA	AAA	Glu	Lys	SM	SNB75	73	1018	Confirmed in COSMIC database
275	TGT	TAT	Cys	Tyr	SM	GI-1	87	2249	Mutation in COSMIC database
Neuroblastoma
Pos.	WT	Mut	AA	Mut	Comp	Name	NB	Ref	Comments
113	TTC	TCC	Phe	Ser	SM	ACN	3	2249	Mutation in COSMIC database
342	CGA	CTA	Arg	Leu	SM	CHLA-119	1	1774	Single report
286	GAA	AAA	Glu	Lys	SM	CHLA-172	86	1774	Single report
286	GAA	AAA	Glu	Lys	SM	CHLA-90	86	1774	Single report
182	TGC	TGA	Cys	Stop	SM	LAN1	6	93	Single report
173	GTG	ATG	Val	Met	SM	NB13	77	2249	Mutation in COSMIC database
175	CGC	CAC	Arg	His	SM	NB16	1187	2249	Mutation in COSMIC database
177	CCC	ACC	Pro	Thr	SM	NB19	1	2249	Mutation in COSMIC database
176	TGC	TTC	Cys	Phe	SM	NB-SD	191	1190	Single report
245	GGC	AGC	Gly	Ser	SM	NMB	440	1772	Single report
176	TGC	TTC	Cys	Phe	SM	SJNB-4	191	1772	Single report
135	TGC	TTC	Cys	Phe	SM	SK-N-BE(2)	52	1772	Single report
110	CGT	CTT	Arg	Leu	SM	SK-N-DZ	28	2249	Mutation in COSMIC database
246	ATG	AGG	Met	Arg	SM	SK-N-FI	13	2249	Mutation in COSMIC database
282	CGG	del3a	Arg	InF	SM	TGW	1	2096	Single report
233	CAC	ins4b	His	Fs.	SM	CHP-100	1	93	Single report
PNET
Pos.	WT	Mut	AA	Mut	Comp	Name	NB	Ref	Comments
273	CGT	CAT	Arg	His	SM	HS-Sch-2	780	2078	Single report

Bladder carcinoma Table I : cell lines with wt p53 Cell line ATCC Reference BC16   729 HU456   729 HT1197*   729 KK47   729 RT4   561 PSI*   729 RT112   729 TCCSUP   729 UCRU-BL13     UCRU-BL-28     MGH-U     UM-UC2     UM-UC11     UM-UC6     mdm2 overexpression 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 280 AGA ACA Arg Thr SM 5637 92 561 Confirmed in three other publications 248 CGG CAG Arg Gln SM 639-V 883 689 Single report 162 ATC AAC Ile Asn DMU 647-V 4 2249 Mutation in COSMIC database 336 GAG TAG Glu Stop DMU 647-V 5 2249 Mutation in COSMIC database 241 TCC TGC Ser Cys SM BFTC-909 36 564 wt in COSMIC 280 AGA ACA Arg Thr SM BL-17 92 859 Single report 126 TAC TAG Tyr Stop SM BT-1 14 689 Single report 241 TCC TTC Ser Phe SM CUBIII 101 729 Single report 158 CGC CAC Arg His SM DSH1 105 2249 Mutation in COSMIC database 126 TAC TAG Tyr Stop SM EJ 14 689 Controversy with other publications 164 AAG GAG Lys Glu SM EJ 25 729 Controversy with other publications 76 GCA del76 Ala Fs. SM FHS 738B1 1 561 Single report 365 CAC CGC His Arg SM HT-1197 1 561 wt in COSMIC 250 CCC CTC Pro Leu SM HT-1376 53 561 Confirmed in two other publications 261 AGT del137 Ser Fs. DMU J82 1 2249 Controversy with other publications Deletion of exon 8 271 GAG AAG Glu Lys MM J82 38 561 Controversy with other publications undocumented 4th mutation (deletion 210 bp) 271 GAG AAG Glu Lys MM J82 38 729 Controversy with other publications 274 GTT TTT Val Phe MM J82 32 561 Controversy with other publications undocumented 4th mutation (deletion 210 bp) 274 GTT TTT Val Phe MM J82 32 729 Controversy with other publications 320 AAG AAC Lys Asn MM J82 5 561 Controversy with other publications undocumented 4th mutation (deletion 210 bp) 320 AAG AAC Lys Asn DMU J82 5 2249 Controversy with other publications 320 AAG AAC Lys Asn MM J82 5 729 Controversy with other publications 241 TCC TAC Ser Tyr SM LB831-BLC 19 2249 Mutation in COSMIC database 213 CGA TGA Arg Stop SM LD137 306 1163 Single report 219 CCC del1a Pro Fs. SM LD600 10 1163 Single report 36 CCG CCA Pro Pro SM LD605 5 1163 Single report 245 GGC GAC Gly Asp SM LD627 171 1163 Single report 280 AGA AAA Arg Lys SM LD630 78 1163 Single report 248 CGG CAG Arg Gln SM LD660 883 1163 Single report 248 CGG CAG Arg Gln SM LD692 883 1163 Single report 158 CGC CTC Arg Leu SM LD700 92 1163 Single report 183 TCA TGA Ser Stop DMU RT-112 29 2249 Controversy with other publications 248 CGG CAG Arg Gln SM RT-112 883 1733 Controversy with other publications 248 CGG CAG Arg Gln DMU RT-112 883 2249 Controversy with other publications 110 CGT CTT Arg Leu SM SCaBER 28 294 Confirmed in another publication 110 CGT CTT Arg Leu SM SD 28 294 Controversy with other publications 116 TCT TGT Ser Cys SM SD 3 689 Controversy with other publications 273 CGT TGT Arg Cys SM SW1710 687 689 Single report 126 TAC TAG Tyr Stop SM T-24 14 689 Controversy with other publications 126 TAC del3a Tyr InF SM T-24 1 561 Controversy with other publications 349 GAA TAA Glu Stop SM TCCSUP 7 561 Single report 113 TTC TGC Phe Cys SM UM-UC-3 9 294 Confirmed in two other publications 126 TAC TAG Tyr Stop DMU VM-CUB-1 14 2249 Controversy with other publications 175 CGC CAC Arg His SM VM-CUB-1 1187 689 Controversy with other publications 175 CGC CAC Arg His DMU VM-CUB-1 1187 2249 Controversy with other publications 158 CGC CTC Arg Leu DMU VM-CUB-2 92 689 Controversy with other publications 158 CGC CTC Arg Leu SM VM-CUB-2 92 294 Controversy with other publications 163 TAC TGC Tyr Cys DMU VM-CUB-2 140 689 Controversy with other publications 278 CCT CTT Pro Leu SM VM-CUB-3 84 689 Single report