Table 2.
Fully deleted | ORF disrupted | Radical + Mod radical SNVs | ORF impacted | |
---|---|---|---|---|
Total |
93 (95) |
1,128 (1,244) |
2,586 (2,889) |
7,828 (9,049) |
Single copy |
9 (9) |
198 (234) |
442 (525) |
1,733 (2,081) |
Single copy + lethal/sterile |
1 (1) |
36 (51) |
113 (141) |
429 (570) |
Single copy + OMIM |
0 (0) |
3 (5) |
12 (20) |
57 (81) |
Single copy + lethal/sterile + OMIM | 0 (0) | 1 (1) | 7 (8) | 28 (36) |
Numbers in parenthesis correspond to the total spliced forms affected. ‘ORF Disrupted’ includes frame shift GVs, stop loss and gains, and GVs impacting splice sites. ‘ORF Impacted’ considers all types of GVs except synonymous SNVs.