Table 1.
Damaging (HGMD) | Tolerated (1TGP + ESP) | |
---|---|---|
# initial variants | 176523 | 65377 |
- # SYN | 1333 | 36546 |
- # FR/SC/SD | 77627 | 929 |
# final variants | 97653 | 27902 |
Damaging and tolerated sets after synonymous-SNVs and frameshift, stop-causing and stop-disrupting variants removal. An instance of the data set is the coding variant relative to the transcript to which overlaps. SYN = synonymous, FR = frameshift, SC = stop-causing, SD = stop-disrupting.