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. 2024 Sep 30;24:1212. doi: 10.1186/s12885-024-12967-3

Table 3.

APC variants in Ugandan CRC patients compared with Minor Allele Frequency (MAF) in Global and African Genome Databases of 1000 Genomes Project and ExAC (Exome Aggregation Consortium) databases

Variant No HGVS.c 1000 Genomes Project (MAF) ExAC Population (MAF)
Global African Global African
1 c.120G > A 1E-03 0.003 7E-04 0.006
2 c.1404 T > C 0.51 0.162 0.578 0.205
3 c.1480_1481insC N/A N/A N/A N/A
4 c.1581G > A 0.666 0.517 0.648 0.537
5 c.1641A > G 0.014 0.054 0.004 0.038
6 c.2127G > C N/A N/A N/A N/A
7 c.2128A > T N/A N/A N/A N/A
8 c.2284A > T N/A N/A N/A N/A
9 c.2460A > T N/A N/A N/A N/A
10 c.31 T > G 0.077 0.095 0.111 0.08
11 c.3482A > G N/A N/A N/A 0
12 c.34856G > C N/A N/A N/A N/A
13 c.3592G > C N/A N/A N/A N/A
14 c.3594G > A N/A N/A N/A N/A
15 c.3678A > G 0.014 0.054 0.004 0.038
16 c.379 T > A N/A N/A N/A N/A
17 c.4253G > A N/A N/A N/A N/A
18 c.4425G > A 0.666 0.517 0.649 0.537
19 c.4933_4934insC N/A N/A N/A N/A
20 c.4980G > A 0.667 0.519 0.651 0.542
21 c.5161_5162insC N/A N/A N/A N/A
22 c.5388_5389insC N/A N/A N/A N/A
23 c.5411 T > A 0.865 0.991 0.798 0.957
24 c.5498G > A N/A N/A N/A N/A
25 c.5498G > C N/A N/A N/A N/A
26 c.5499A > T N/A N/A N/A N/A
27 c.5502 T > G N/A N/A N/A N/A
28 c.5504C > A N/A N/A N/A N/A
29 c.5505 T > A N/A N/A N/A N/A
30 c.5727 T > G N/A N/A N/A N/A
31 c.5728C > T N/A N/A N/A N/A
32 c.5826G > A 0.667 0.521 0.649 0.541
33 c.6067G > C N/A N/A N/A N/A
34 c.6630G > T N/A N/A N/A N/A
35 c.6633delA N/A N/A N/A N/A
36 c.6636G > A N/A N/A N/A N/A
37 c.6637A > C N/A N/A N/A N/A
38 c.6638 T > C N/A N/A N/A N/A
39 c.667C > T N/A N/A N/A N/A
40 c.6961C > A N/A N/A N/A N/A
41 c.7304G > C N/A N/A N/A N/A
42 c.7308A > T N/A N/A N/A N/A
43 c.7420_7421insA N/A N/A N/A N/A
44 c.7423C > G N/A N/A N/A N/A
45 c.7650A > G 0.035 0.128 0.009 0.095
46 c.7652G > C N/A N/A N/A N/A
47 c.7654 T > A N/A N/A N/A N/A
48 c.850C > T N/A N/A N/A N/A