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 |