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. 2020 May;21(5):1295–1301. doi: 10.31557/APJCP.2020.21.5.1295

Table 2.

Types of NOTCH1 Mutations in All Studied CLL Cases

Case No domain Type of mutation Nucleotide change Amino acid change
1;50;51;55 HD-N exon 26 Point mutation c.*4766C>T S1590F
3;60;70 Pest exon 34 Deletion c.7486 del A N2497T
4;20;22 Pest exon 34 Insertion c. 7526_7527 ins C E2516L H2508A
5;8;65 Pest exon 34 Point mutation c.*550C>T P2518L
6;74;72 Pest exon 34 Insertion c. 7542_7483 insT S2517F
10;23;27 Pest exon 34 Insertion c. 7542_7483 insG E2516G S2517V
11;54;61 Tad exon 34 Deletion c.6821 del C T2285A
15;44;71 HD-N exon 26 Point mutation c.*4916A>C E1636A
16;90;92 HD-N exon 26 Deletion 4609 Del A C1537L K1538Q
18;73;104 HD-N exon 26 Point mutation c.*5011G>A V1672I
20;61;69 HD-C exon 27 Point mutation c.*5027T>A V1677D
25;44;77 Pest exon 34 Insertion c. 7543_7544 ins A S2517v
28, 30;66 Pest exon 34 Insertion c. 7481_7482 insG DEL DNT2496 INS GQH
29;57;88 Pest exon 34 Deletion c.7486 del A N2497T T2498P
Insertion c. 7489_7490 insC
33;101 Pest exon 34 Point mutation c. *7513C>G Del peh2506 ins AGA

Del, deletion; ins, insertion