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. 2016 Dec 13;11(12):e0167641. doi: 10.1371/journal.pone.0167641

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