Pos. |
WT |
Mut |
AA |
Mut |
Comp |
Name |
NB |
Ref |
Comments |
229 |
TGT |
TGA |
Cys |
Stop |
SM |
866MT |
6 |
16 |
Single report |
278 |
CCT |
TCT |
Pro |
Ser |
SM |
ABC-1 |
87 |
1382 |
Single report |
71 |
CCC |
del1 |
Pro |
Fs. |
SM |
ACC-LC-319 |
2 |
1976 |
Single report |
281 |
GAC |
GGC |
Asp |
Gly |
SM |
ACC-LC94 |
16 |
1976 |
Single report |
209 |
AGA |
TGA |
Arg |
Stop |
SM |
CAEP |
14 |
1393 |
Single report |
135 |
TGC |
TTC |
Cys |
Phe |
SM |
CAL-12T |
52 |
2249 |
Mutation in COSMIC database |
280 |
AGA |
AAA |
Arg |
Lys |
SM |
Ca-Lu-1 |
78 |
1081 |
Single report |
237 |
ATG |
ATT |
Met |
Ile |
SM |
CALU-3 |
52 |
2249 |
Mutation in COSMIC database |
196 |
CGA |
TGA |
Arg |
Stop |
SM |
CALU6 |
241 |
16 |
Single report |
175 |
CGC |
CAC |
Arg |
His |
SM |
CMRC-LCD |
1187 |
1382 |
Single report |
171 |
GAG |
TAG |
Glu |
Stop |
SM |
EBC-1 |
25 |
1382 |
Single report |
187 |
GGT |
del111 |
Gly |
InF |
SM |
EKVX |
1 |
1018 |
Controversy with other publications |
203 |
GTG |
GTT |
Val |
Val |
SM |
EKVX |
2 |
2249 |
Controversy with other publications |
204 |
GAG |
TAG |
Glu |
Stop |
SM |
EKVX |
46 |
2249 |
Controversy with other publications |
273 |
CGT |
TGT |
Arg |
Cys |
SM |
GLCA2 |
687 |
1386 |
Single report |
248 |
CGG |
CTG |
Arg |
Leu |
DMU |
GLCP1 |
124 |
1386 |
Single report |
349 |
GAA |
TAA |
Glu |
Stop |
DMU |
GLCP1 |
7 |
1386 |
Single report |
139 |
AAG |
del1c |
Lys |
Fs. |
SM |
HCC1438 |
1 |
1327 |
Single report |
154 |
GGC |
GTC |
Gly |
Val |
SM |
HCC2108 |
65 |
1327 |
Single report |
234 |
TAC |
TGC |
Tyr |
Cys |
SM |
HCC2279 |
133 |
1327 |
Single report |
175 |
CGC |
CTC |
Arg |
Leu |
SM |
HOP-92 |
25 |
1018 |
Confirmed in COSMIC database |
132 |
AAG |
AAT |
Lys |
Asn |
SM |
IGR-Heu |
23 |
2195 |
Single report |
249 |
AGG |
AGT |
Arg |
Ser |
SM |
KNS-62 |
389 |
2249 |
Mutation in COSMIC database |
237 |
ATG |
ATT |
Met |
Ile |
SM |
LC-1-SQ |
52 |
364 |
Confirmed in another publication |
241 |
TCC |
TGC |
Ser |
Cys |
SM |
LC-2-ad |
36 |
2249 |
Mutation in COSMIC database |
216 |
GTG |
TTG |
Val |
Leu |
SM |
LCLC-103H |
13 |
2249 |
Mutation in COSMIC database |
248 |
CGG |
CTG |
Arg |
Leu |
SM |
LCMS |
124 |
1382 |
Single report |
272 |
GTG |
ATG |
Val |
Met |
SM |
LK-2 |
105 |
1006 |
Single report |
11 |
GAG |
CAG |
Glu |
Gln |
SM |
LU-65 |
10 |
1382 |
Single report |
273 |
CGT |
CAT |
Arg |
His |
SM |
LX-1 |
780 |
1081 |
Single report |
248 |
CGG |
TGG |
Arg |
Trp |
SM |
LXF-289 |
728 |
2249 |
Mutation in COSMIC database |
248 |
CGG |
CAG |
Arg |
Gln |
SM |
MA1 |
883 |
1382 |
Confirmed in another publication |
245 |
GGC |
GTC |
Gly |
Val |
SM |
MA-10 |
84 |
1382 |
Single report |
282 |
CGG |
TGG |
Arg |
Trp |
SM |
MA14 |
600 |
1574 |
Single report |
175 |
CGC |
CAC |
Arg |
His |
SM |
MA2 |
1187 |
1382 |
Confirmed in another publication |
337 |
CGC |
TGC |
Arg |
Cys |
SM |
MA-24 |
19 |
1382 |
Single report |
237 |
ATG |
ATA |
Met |
Ile |
SM |
MA25 |
123 |
1382 |
Confirmed in another publication |
121 |
TCT |
del1c |
Ser |
Fs. |
SM |
MA-29 |
1 |
1382 |
Single report |
245 |
GGC |
TGC |
Gly |
Cys |
SM |
MA3 |
86 |
1382 |
Confirmed in another publication |
245 |
GGC |
GTC |
Gly |
Val |
SM |
MA36 |
84 |
1574 |
Single report |
273 |
CGT |
CAT |
Arg |
His |
SM |
NCI-H1155 |
780 |
92 |
Confirmed in two other publications |
239 |
AAC |
ins1b |
Asn |
Fs. |
SM |
NCI-H125 |
1 |
678 |
Single report |
298 |
GAG |
TAG |
Glu |
Stop |
SM |
NCI-H1264 |
71 |
92 |
Single report |
248 |
CGG |
TGG |
Arg |
Trp |
SM |
NCI-H1284 |
728 |
678 |
Single report |
234 |
TAC |
TGC |
Tyr |
Cys |
SM |
NCI-H1304 |
133 |
678 |
wt in COSMIC |
224 |
GAG |
GAC |
Glu |
Asp |
SM |
NCI-H1334 |
10 |
92 |
Single report |
285 |
GAG |
AAG |
Glu |
Lys |
SM |
NCI-H1355 |
165 |
92 |
Confirmed in another publication |
47 |
CCG |
CTG |
Pro |
Leu |
SM |
NCI-H1373 |
3 |
106 |
Controversy with other publications |
144 |
CAG |
TAG |
Gln |
Stop |
SM |
NCI-H1404 |
53 |
92 |
Single report |
141 |
TGC |
TGG |
Cys |
Trp |
SM |
NCI-H1435 |
11 |
92 |
Single report |
267 |
CGG |
CCG |
Arg |
Pro |
SM |
NCI-H1437 |
19 |
92 |
Confirmed in another publication |
89 |
CCC |
del1 |
Pro |
Fs. |
SM |
NCI-H1466 |
3 |
92 |
Single report |
34 |
CCC |
ins1 |
Pro |
Fs. |
DMU |
NCI-H157 |
1 |
1382 |
Controversy with other publications |
282 |
CGG |
CCG |
Arg |
Pro |
SM |
NCI-H157 |
21 |
2021 |
Controversy with other publications |
298 |
GAG |
TAG |
Glu |
Stop |
SM |
NCI-H157 |
71 |
92 |
Controversy with other publications |
298 |
GAG |
TAG |
Glu |
Stop |
DMU |
NCI-H157 |
71 |
1382 |
Controversy with other publications |
248 |
CGG |
CTG |
Arg |
Leu |
SM |
NCI-H1573 |
124 |
92 |
Single report |
144 |
CAG |
TAG |
Gln |
Stop |
SM |
NCI-H1581 |
53 |
92 |
wt in COSMIC |
273 |
CGT |
CTT |
Arg |
Leu |
SM |
NCI-H1623 |
147 |
92 |
Single report |
175 |
CGC |
CAC |
Arg |
His |
SM |
NCI-H1628 |
1187 |
678 |
Single report |
35 |
TTG |
ins1b |
Leu |
Fs. |
SM |
NCI-H1648 |
1 |
92 |
wt in COSMIC |
176 |
TGC |
TAC |
Cys |
Tyr |
SM |
NCI-H1651 |
88 |
92 |
Single report |
285 |
GAG |
AAG |
Glu |
Lys |
SM |
NCI-H1703 |
165 |
92 |
Controversy with other publications |
273 |
CGT |
CTT |
Arg |
Leu |
SM |
NCI-H1734 |
147 |
92 |
wt in COSMIC |
242 |
TGC |
TTC |
Cys |
Phe |
SM |
NCI-H1755 |
88 |
92 |
Single report |
247 |
AAC |
AAT |
Asn |
Asn |
SM |
NCI-H1770 |
39 |
2249 |
Mutation in COSMIC database |
248 |
CGG |
TGG |
Arg |
Trp |
SM |
NCI-H1770 |
728 |
2249 |
Mutation in COSMIC database |
157 |
GTC |
TTC |
Val |
Phe |
SM |
NCI-H1781 |
177 |
92 |
Single report |
209 |
AGA |
TGA |
Arg |
Stop |
SM |
NCI-H1793 |
14 |
92 |
Controversy with other publications |
273 |
CGT |
CAT |
Arg |
His |
SM |
NCI-H1793 |
780 |
2249 |
Controversy with other publications |
273 |
CGT |
CTT |
Arg |
Leu |
SM |
NCI-H1838 |
147 |
2249 |
Mutation in COSMIC database |
237 |
ATG |
ATA |
Met |
Ile |
SM |
NCI-H1869 |
123 |
678 |
Single report |
209 |
AGA |
TGA |
Arg |
Stop |
SM |
NCI-H1904 |
14 |
92 |
Single report |
291 |
AAG |
TAG |
Lys |
Stop |
SM |
NCI-H1915 |
9 |
92 |
Single report |
242 |
TGC |
TGG |
Cys |
Trp |
SM |
NCI-H1993 |
16 |
2249 |
Mutation in COSMIC database |
273 |
CGT |
CTT |
Arg |
Leu |
SM |
NCI-H2009 |
147 |
92 |
Single report |
262 |
GGT |
GTT |
Gly |
Val |
SM |
NCI-H2030 |
14 |
2249 |
Mutation in COSMIC database |
242 |
TGC |
TGG |
Cys |
Trp |
SM |
NCI-H2073 |
16 |
92 |
Single report |
220 |
TAT |
TCT |
Tyr |
Ser |
SM |
NCI-H2086 |
20 |
106 |
Single report |
157 |
GTC |
TTC |
Val |
Phe |
SM |
NCI-H2087 |
177 |
92 |
Confirmed in another publication |
248 |
CGG |
TGG |
Arg |
Trp |
SM |
NCI-H2106 |
728 |
106 |
Single report |
16 |
CAG |
CTG |
Gln |
Leu |
DMU |
NCI-H2122 |
1 |
2249 |
Mutation in COSMIC database |
176 |
TGC |
TTC |
Cys |
Phe |
DMU |
NCI-H2122 |
191 |
2249 |
Mutation in COSMIC database |
62 |
GAA |
TAA |
Glu |
Stop |
SM |
NCI-H2126 |
8 |
2249 |
Mutation in COSMIC database |
161 |
GCC |
ACC |
Ala |
Thr |
SM |
NCI-H2250 |
75 |
92 |
Single report |
158 |
CGC |
CTC |
Arg |
Leu |
SM |
NCI-H226 |
92 |
92 |
Controversy with other publications |
309 |
CCC |
GCC |
Pro |
Ala |
SM |
NCI-H226 |
1 |
1018 |
Controversy with other publications |
154 |
GGC |
GTC |
Gly |
Val |
SM |
NCI-H2291 |
65 |
2249 |
Mutation in COSMIC database |
246 |
ATG |
ATC |
Met |
Ile |
SM |
NCI-H23 |
6 |
17 |
Confirmed in another publication |
273 |
CGT |
CAT |
Arg |
His |
SM |
NCI-H2405 |
780 |
2249 |
Mutation in COSMIC database |
248 |
CGG |
CTG |
Arg |
Leu |
SM |
NCI-H322 |
124 |
92 |
Confirmed in another publication |
249 |
AGG |
AGC |
Arg |
Ser |
SM |
NCI-H324 |
34 |
678 |
Controversy with other publications |
249 |
AGG |
AGC |
Arg |
Ser |
DMU |
NCI-H324 |
34 |
92 |
Controversy with other publications |
259 |
GAC |
GTC |
Asp |
Val |
DMU |
NCI-H324 |
21 |
92 |
Controversy with other publications |
158 |
CGC |
CTC |
Arg |
Leu |
SM |
NCI-H441 |
92 |
92 |
Confirmed in another publication. wt in COSMIC |
146 |
TGG |
TGA |
Trp |
Stop |
SM |
NCI-H520 |
51 |
92 |
wt in COSMIC |
191 |
CCT |
del1a |
Pro |
Fs. |
SM |
NCI-H522 |
8 |
92 |
Single report |
245 |
GGC |
TGC |
Gly |
Cys |
SM |
NCI-H596 |
86 |
92 |
Confirmed in another publication |
164 |
AAG |
AAT |
Lys |
Asn |
SM |
NCI-H650 |
8 |
92 |
Single report |
215 |
AGT |
ATT |
Ser |
Ile |
SM |
NCI-H661 |
25 |
92 |
wt in COSMIC |
217 |
GTG |
TTG |
Val |
Leu |
DMU |
NCI-H676 |
3 |
92 |
Single report |
248 |
CGG |
CTG |
Arg |
Leu |
DMU |
NCI-H676 |
124 |
92 |
Single report |
102 |
ACC |
del1 |
Thr |
Fs. |
SM |
NCI-H679 |
1 |
92 |
Single report |
176 |
TGC |
TGG |
Cys |
Trp |
SM |
NCI-H720 |
19 |
92 |
wt in COSMIC |
162 |
ATC |
ins9c |
Ile |
InF |
SM |
NCI-H727 |
1 |
1707 |
Single report |
267 |
CGG |
CCG |
Arg |
Pro |
SM |
NCI-H738 |
19 |
678 |
Single report |
284 |
ACA |
CCA |
Thr |
Pro |
SM |
NCI-H820 |
10 |
106 |
Single report |
285 |
GAG |
AAG |
Glu |
Lys |
SM |
NCI-H854 |
165 |
92 |
Single report |
249 |
AGG |
AGT |
Arg |
Ser |
SM |
OG56 |
389 |
1976 |
Single report |
334 |
GGG |
GTG |
Gly |
Val |
SM |
PC-1 |
3 |
1382 |
Single report |
245 |
GGC |
TGC |
Gly |
Cys |
SM |
PC-10 |
86 |
364 |
Single report |
334 |
GGG |
GTG |
Gly |
Val |
SM |
PC-13 |
3 |
1382 |
Single report |
248 |
CGG |
TGG |
Arg |
Trp |
SM |
PC-14 |
728 |
1382 |
Controversy with other publications |
248 |
CGG |
CAG |
Arg |
Gln |
SM |
PC-14 |
883 |
2242 |
Controversy with other publications |
282 |
CGG |
TGG |
Arg |
Trp |
SM |
PC-3 |
600 |
364 |
Confirmed in another publication |
214 |
CAT |
CGT |
His |
Arg |
SM |
PC-7 |
69 |
1382 |
Single report |
248 |
CGG |
CAG |
Arg |
Gln |
SM |
PC-9 |
883 |
364 |
Single report |
104 |
CAG |
TAG |
Gln |
Stop |
SM |
PERF-LC-AI |
18 |
1976 |
Single report |
244 |
GGC |
TGC |
Gly |
Cys |
SM |
RAL |
53 |
1393 |
Single report |
113 |
TTC |
TGC |
Phe |
Cys |
SM |
RERF-LOCK |
9 |
1382 |
Single report |
158 |
CGC |
CTC |
Arg |
Leu |
SM |
SK-LC-6 |
92 |
1976 |
Single report |
193 |
CAT |
CGT |
His |
Arg |
SM |
SKLU1 |
86 |
16 |
Single report |
280 |
AGA |
AAA |
Arg |
Lys |
SM |
SK-MES-1 |
78 |
1081 |
Controversy with other publications. Excluded from the cosnensus |
298 |
GAG |
TAG |
Glu |
Stop |
SM |
SK-MES-1 |
71 |
303 |
Consensus based on three publications. Controversy with other publications |
277 |
TGT |
TTT |
Cys |
Phe |
SM |
SW1271 |
48 |
16 |
Single report |
167 |
CAG |
TAG |
Gln |
Stop |
SM |
SW900 |
40 |
2249 |
Mutation in COSMIC database |
347 |
GCC |
ACC |
Ala |
Thr |
SM |
U-1752 |
3 |
2021 |
Single report |
175 |
CGC |
del1 |
Arg |
Fs. |
SM |
U-1810 |
3 |
2021 |
Single report |
175 |
CGC |
CAC |
Arg |
His |
SM |
VRMC-LCD |
1187 |
1976 |
Single report |
204 |
GAG |
TAG |
Glu |
Stop |
SM |
Y-ML-1B |
46 |
1867 |
Single report |