Table 1. Somatic mutations found in 48 patients with CLL.
Chromosome | Gene | Position | Reference | Alternative | Mutation Type | AA Change | Patient No. |
---|---|---|---|---|---|---|---|
1 | ITPKB | 226923392 | G | A | nonsynonymous SNV | p.R590W | 19 |
2 | PRKD3 | 37543553 | G | A | stopgain SNV | p.R39X | 29 |
2 | LRP1B | 141459813 | TCTC | - | frameshift deletion | p.2066_2067del | 40 |
2 | SF3B1 | 198266834 | T | C | nonsynonymous SNV | p.K700E | 48, 64, 65 |
2 | SF3B1 | 198267361 | T | C | nonsynonymous SNV | p.K666E | 16 |
2 | SF3B1 | 198267484 | G | C | nonsynonymous SNV | p.R625G | 25 |
3 | MYD88 | 38182641 | T | C | stoploss SNV | p.X160R | 34, 62 |
3 | GATA2 | 128205685 | C | T | nonsynonymous SNV | p.A64T | 16 |
3 | KLHL6 | 183212036 | T | C | nonsynonymous SNV | p.Y394C | 8 |
3 | KLHL6 | 183273170 | G | A | nonsynonymous SNV | p.A91V | 65 |
3 | KLHL6 | 183273185 | T | A | nonsynonymous SNV | p.H86L | 6 |
3 | KLHL6 | 183273188 | C | T | nonsynonymous SNV | p.C85Y | 23 |
3 | KLHL6 | 183273189 | A | G | nonsynonymous SNV | p.C85R | 65 |
4 | KIT | 55604628 | C | T | stopgain SNV | p.R946X | 15 |
4 | FAT4 | 126239804 | ACAAGAATGG | - | frameshift deletion | p.746_749del | 64 |
4 | FAT4 | 126241813 | A | T | nonsynonymous SNV | p.N1416I | 64 |
4 | FAT4 | 126373317 | C | A | nonsynonymous SNV | p.R3716S | 15 |
5 | CSF1R | 149457767 | C | T | nonsynonymous SNV | p.V213M | 35 |
6 | BRD2 | 32945698 | GAG | - | nonframeshift deletion | p.498_499del | 8, 35 |
7 | LAMB4 | 107703233 | T | TA | frameshift insertion | p.S1090* | 57 |
7 | LAMB4 | 107706935 | C | T | nonsynonymous SNV | p.G853S | 8 |
7 | LAMB4 | 107732794 | G | A | nonsynonymous SNV | p.A513V | 35 |
7 | POT1 | 124499011 | C | A | nonsynonymous SNV | p.K103N | 28 |
7 | EZH2 | 148506437 | G | A | nonsynonymous SNV | p.A636V | 41 |
7 | EZH2 | 148514402 | CAGCACCACTCCACTCCACATTCTCAG | - | nonframeshift deletion | p.388_397del | 38 |
8 | SCRIB | 144889100 | G | T | nonsynonymous SNV | p.D754E | 42 |
9 | CDKN2A | 21974808 | T | A | nonsynonymous SNV | p.S7C | 60 |
9 | NOTCH1 | 139390648 | AG | - | frameshift deletion | p.P2515*fs | 40, 63 |
9 | NOTCH1 | 139390815 | G | - | frameshift deletion | p.Q2459fs | 43 |
9 | NOTCH1 | 139402795 | C | T | nonsynonymous SNV | p.G1072S | 43 |
10 | EGR2 | 64573332 | C | T | nonsynonymous SNV | p.E356K | 21 |
11 | SF1 | 64534502 | A | AGGC | nonframeshift insertion | p.484ins | 65 |
11 | ATM | 108115594 | C | T | stopgain SNV | p.R248X | 57 |
11 | ATM | 108163400 | A | T | nonsynonymous SNV | p.L1497F | 64 |
11 | ATM | 108183152 | A | T | nonsynonymous SNV | p.E1978V | 5 |
11 | ATM | 108186757 | G | A | nonsynonymous SNV | p.E2039K | 48 |
11 | ATM | 108196912 | T | C | nonsynonymous SNV | p.L2312P | 21 |
11 | ATM | 108201089 | C | G | nonsynonymous SNV | p.R2486G | 63 |
11 | ATM | 108205790 | AG | - | frameshift deletion | p.2702_2702del | 21 |
11 | ATM | 108206579 | A | G | nonsynonymous SNV | p.D2720G | 42 |
11 | ATM | 108206581 | G | A | nonsynonymous SNV | p.D2721N | 64 |
11 | ATM | 108206666 | A | T | nonsynonymous SNV | p.K2749I | 19 |
11 | ATM | 108216576 | C | T | nonsynonymous SNV | p.P2842L | 31 |
11 | ATM | 108216601 | G | T | nonsynonymous SNV | p.L2850F | 26 |
11 | ATM | 108224508 | A | C | nonsynonymous SNV | p.Q2896P | 48 |
11 | ATM | 108235838 | G | T | nonsynonymous SNV | p.W2960C | 64 |
12 | SH2B3 | 111856250 | G | A | nonsynonymous SNV | p.E101K | 31 |
12 | SH2B3 | 111885306 | T | TG | frameshift inserstion | p.398ins | 38 |
13 | RB1 | 49039195 | C | T | nonsynonymous SNV | p.S758L | 34 |
15 | TCF12 | 57489989 | A | G | nonsynonymous SNV | p.K182R | 57 |
15 | CHD2 | 93563337 | C | T | nonsynonymous SNV | p.H1668Y | 30 |
17 | TP53 | 7576874 | TCCAGTGGTTTCT | - | frameshift deletion | p.188_192del | 20 |
17 | TP53 | 7577097 | C | T | nonsynonymous SNV | p.D149N | 62 |
17 | TP53 | 7577121 | G | A | nonsynonymous SNV | p.R141C | 16 |
17 | TP53 | 7577511 | A | G | nonsynonymous SNV | p.L125P | 35 |
17 | TP53 | 7577547 | C | T | nonsynonymous SNV | p.G113D | 33 |
17 | TP53 | 7578190 | T | C | nonsynonymous SNV | p.Y88C | 33 |
17 | TP53 | 7578208 | T | C | nonsynonymous SNV | p.H82R | 63 |
17 | TP53 | 7578212 | G | A | stopgain SNV | p.R81X | 13 |
18 | SETBP1 | 42643500 | C | G | nonsynonymous SNV | p.P1543R | 21 |
19 | CEBPA | 33792731 | G | GGCGGGT | nonframeshift insertion | p.197_199ins | 61 |
20 | SAMHD1 | 35579956 | T | - | frameshift deletion | p.D31fs | 25 |
21 | RUNX1 | 36259207 | G | A | nonsynonymous SNV | p.P68L | 51 |
X | ZRSR2 | 15818044 | CT | - | frameshift deletion | p.57_58del | 5 |
X | BCOR | 39914637 | A | - | frameshift deletion | p.M1523fs | 43 |
X | BCOR | 39923684 | C | T | nonsynonymous SNV | p.R1118H | 11 |
X | BCOR | 39933386 | CTGGGCACCTTCGC | - | frameshift deletion | p.400_405del | 65 |
X | DDX3X | 41203568 | A | AAC | frameshift insertion | p.314ins | 36 |
X | MED12 | 70356335 | C | G | nonsynonymous SNV | p.L1744V | 39 |
X | ZMYM3 | 70468137 | C | T | nonsynonymous SNV | p.R617H | 60 |
X | STAG2 | 123200027 | C | A | nonsynonymous SNV | p.A700D | 5 |
Abbreviations: AA, amino acid; SNV, single nucleotide variant