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. 2019 Feb 27;9:2858. doi: 10.1038/s41598-019-39525-3

Table 2.

Specific mutations found in ATM gene with concomitant “trunk” mutations (affecting TP53, KRAS, NRAS, BRAF and APC) with relative heterogeneity score.

ID MSI status ATM TP53 KRAS NRAS BRAF APC
Mutation HS Mutation HS Mutation HS Mutation HS Mutation HS Mutation HS
1 MSI K610T 60 R248Q 70 G12V 70 E1464VfsTer8 44
2 NA E1325Stop 94 R175C 180
3 MSS D2870H 52 G12S 114 R1450Stop 106
4 MSS R3047Stop 88 G12D 58 R1450Stop 46
5 MSI R337C 32 G13D 36 I1307K 156
6 MSS P3050L 254 P278S 173 Q61H 120
7 MSI P604S 132 R196Stop 194 G12V 140 E1286Stop 198
8 MSS R337C 30 I254S 200 G12V 140 R1450Stop 64
9 MSS A1309T 136 S215R 192 S1346Stop 72
10 MSS V410A 230
11 MSS R337H 34 I1311MfsTer10 200
12 NA R2443Q 184 R273C 290 E1353FfsTer20 284
13 MSS R337C 114 A146T 212 T1438HfsTer35 106
14 MSS E1704D 240 E1379Stop 710
15 MSS Q2729H 128 A146T 104 T1556NfsTer3 76
16 MSS V410A 200 E1309DfsTer4 158
17 MSS R337H 46 R249G 42 G12V 46
18 MSS P604S 194 R273H 306 Q12894Stop 320
19 MSS R2691H 52 C238Y 122 E1317Q 158
20 MSS R337C 50 G12V 96 H1349QfsTer4 166
21 MSS S333F 40 G266E 760
22 MSS L1939V 44 R282W 268
23 MSS V410A 142 I251S 98 E1547Stop 86
24 MSS V410A 314 Y205H 207
25 MSS R337H 108 R175H 196 G13D 190
26 MSS S333F 290 R273C 140
27 MSS S1691R 204 R175H 113
28 MSS splice site 184_185 + K1992T 212 + 102 V73fs*50 90 V600E 350
29 MSI F1928fs*9 206 R27H + R17H 340 V600E 468
30 MSS F858L 300 V274F 66
31 MSS R337H 20 A146T 140
32 MSS R2912G 116 R2912G 400 G12S 120
33 MSS G2695V 46 G245S 60 R1450Stop 50
34 MSS V410A 132 R273C 108 G12V R1450Stop 62
35 MSS F858L 146 R282W 202 Q1291Stop 84

Abbreviations. HS: heterogeneity score. MSI: microsatellite instability. MSS: microsatellite stability.