Table 2.
Comparison of the filtered results of the mutations in the GEMINI (GEnome MINIng) and Illumina pipeline.
| Chromosome | Position | Codon change (according to the Human Genome Variation Society coding) | Illumina | GEMINI |
| 1 | 40366658 | c.539A>G | ✓ | ✓ |
| 1 | 40366659 | c.537_538insCG | ✓ | ✓ |
| 2 | 215632255 | c.1518_1519delTGinsCA | ✓ | ✓ |
| 3 | 12645693 | c.776C>G | ✓ | ✓ |
| 4 | 106156187 | c.1088C>T | ✓ |
|
| 5 | 112178795 | c.7504G>A | ✓ | ✓ |
| 5 | 176520270 | c.1189_1190delGGinsAC | ✓ | ✓ |
| 5 | 176522605 | c.1702_1704delCCAinsGCC | ✓ | ✓ |
| 7 | 116411990 | c.3029C>T | ✓ | ✓ |
| 9 | 21970916 | c.442G>A |
|
✓ |
| 16 | 3778424 | c.6624A>C | ✓ | ✓ |
| 16 | 3779338 | c.5709dupG | ✓ | ✓ |
| 16 | 3779338 | c.5709delG | ✓ | ✓ |
| 16 | 3779361 | c.5687A>C | ✓ | ✓ |
| 17 | 7579408 | c.277_278delCT | ✓ | ✓ |
| 22 | 41546158 | c.2773C>A | ✓ | ✓ |