Table 2.
Summary of assay inclusivity.
Target | N differences in haplotype | N different haplotypes | Frequency | N haplotypes with impact∗ | Frequency with impact† | Total % | % with impact |
---|---|---|---|---|---|---|---|
1 | 0 | 238 | 1,857,440 | 0 | 0 | 99.07% | 0% |
1 | 235 | 17,139 | 0 | 0 | 0.91% | 0.0000% | |
2 | 42 | 339 | 9 | 21 | 0.018% | 0.0011% | |
3 | 10 | 10 | 7 | 7 | 0.0005% | 0.0004% | |
4 | 2 | 2 | 1 | 1 | 0.0001% | 0.0001% | |
5 | 1 | 1 | 0 | 0 | 0.0001% | 0% | |
6 | 1 | 1 | 1 | 1 | 0.0001% | 0.0001% | |
7 | 1 | 1 | 1 | 1 | 0.0001% | 0.0001% | |
2 | 0 | 243 | 1,865,363 | 0 | 0 | 99.49% | 0% |
1 | 227 | 9465 | 5 | 467 | 0.50% | 0.0249% | |
2 | 34 | 65 | 3 | 4 | 0.0035% | 0.0002% | |
3 | 4 | 4 | 3 | 3 | 0.0002% | 0.0002% | |
4 | 3 | 3 | 3 | 3 | 0.0002% | 0.0002% | |
5 | 3 | 3 | 3 | 3 | 0.0002% | 0.0002% | |
6 | 6 | 17 | 6 | 17 | 0.0009% | 0.0009% | |
7 | 6 | 9 | 6 | 9 | 0.0005% | 0.0005% | |
8 | 2 | 2 | 2 | 2 | 0.0001% | 0.0001% | |
9 | 2 | 2 | 2 | 2 | 0.0001% | 0.0001% | |
combined | 0 | 1 | 1,847,992 | 0 | 0 | 98.56% | 0% |
1 | 365 | 26,367 | 0 | 0 | 1.41% | 0% | |
2 | 121 | 515 | 0 | 0 | 0.027% | 0% | |
3 | 16 | 18 | 0 | 0 | 0.0010% | 0% | |
4 | 5 | 5 | 0 | 0 | 0.0003% | 0% | |
5 | 4 | 4 | 0 | 0 | 0.0002% | 0% | |
6 | 7 | 18 | 0 | 0 | 0.0010% | 0% | |
7 | 6 | 7 | 0 | 0 | 0.0004% | 0% | |
8 | 3 | 5 | 0 | 0 | 0.0003% | 0% | |
9 | 2 | 2 | 0 | 0 | 0.0001% | 0% |
Number of different sequence haplotypes in the database with the indicated number of differences and a predicted impact on assay performance.
Number of database entries with the indicated number of differences and a predicted impact on assay performance.