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. 2018 Jun 27;8:229. doi: 10.3389/fonc.2018.00229

Table 1.

Frequency of genetic variants of NOTCH1 mutations across different chronic lymphocytic leukemia studies.

No. patients Mutation Domain %
646 P2514fs*4 PEST 78.78
35 c.*7668+371 A>G UTR 4.2
14 Q2444* PEST 1.7
10 L2482fs*1 PEST 1.2
10 c.*7668+378 A>G UTR 1.2
6 Q2503* PEST 0.73
5 Q2394* PEST 0.61
4 Q2440* PEST 0.48
4 Q2501* PEST 0.48
3 S2336fs*12 TAD 0.36
3 S2341fs*14 TAD 0.36
3 Q2404* PEST 0.36
3 A2463fs*14 PEST 0.36
3 F2481fs*2 PEST 0.36
3 Q2519* PEST 0.36
2 Q2403* PEST 0.24
2 Q2406* PEST 0.24
2 Q2409* PEST 0.24
2 P2415fs*82 PEST 0.24
2 Q2416HT PEST 0.24
2 Q2416* PEST 0.24
2 V2421* PEST 0.24
2 Q2459* PEST 0.24
2 S2470fs*1 PEST 0.24
2 V2476* PEST 0.24
2 A2478fs*6 PEST 0.24
2 c.*7668+380 A>C UTR 0.24
1 R2070W ANK 0.12
1 R2104H ANK 0.12
1 L2124fs*113 ANK 0.12
1 S2163del121 TAD 0.12
1 K2181fs*61 TAD 0.12
1 P2199fs*44 TAD 0.12
1 V2200fs*45 TAD 0.12
1 D2201fs*41 TAD 0.12
1 E2267fs*86 TAD 0.12
1 S2274fs*79 TAD 0.12
1 S2329fs*24 TAD 0.12
1 V2330fs*22 TAD 0.12
1 L2335fs*12 TAD 0.12
1 Q2391* PEST 0.12
1 Q2395* PEST 0.12
1 Q2398* PEST 0.12
1 R2431 fs*4 PEST 0.12
1 F2433fs*2 PEST 0.12
1 L2434fs*1 PEST 0.12
1 L2434* PEST 0.12
1 P2438fs*36 PEST 0.12
1 P2438fs*42 PEST 0.12
1 S2449fs*28 PEST 0.12
1 L2457V PEST 0.12
1 E2460* PEST 0.12
1 P2462fs*15 PEST 0.12
1 P2465fs*13 PEST 0.12
1 S2467* PEST 0.12
1 S2467Y PEST 0.12
1 S2467fs*6 PEST 0.12
1 L2468fs*4 PEST 0.12
1 T2477fs*6 PEST 0.12
1 Q2480fs*3 PEST 0.12
1 S2486* PEST 0.12
1 Q2487* PEST 0.12
1 S2492* PEST 0.12
1 L2502V PEST 0.12
1 Q2503fs*6 PEST 0.12
1 E2506* PEST 0.12
1 L2510 del9 res PEST 0.12
1 T2511A PEST 0.12
1 E2515* PEST 0.12
1 W2520* PEST 0.12
1 D2531fs*74 PEST 0.12