Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | 2 | 161416881 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 2 | 161417690 | frameshift variant | GTTTTAA/- | delins | 0.700 | 0 | ||||||||
|
1 | 2 | 161417795 | stop gained | G/A;C | snv | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.040 | 2 | 161417827 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 2 | 161418249 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 2 | 161419040 | missense variant | A/G | snv | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.040 | 2 | 161420241 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 2 | 161423547 | frameshift variant | ACG/CA | delins | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.080 | 22 | 50721469 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
14 | 0.827 | 0.200 | 3 | 113795101 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.040 | 3 | 114339276 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
16 | 0.882 | 0.080 | 10 | 28614666 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 11 | 118374964 | frameshift variant | CA/- | del | 0.700 | 0 | ||||||||
|
20 | 0.827 | 0.200 | 14 | 77025671 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
25 | 0.763 | 0.200 | X | 154030631 | splice acceptor variant | CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- | delins | 0.700 | 0 | ||||||||
|
9 | 0.925 | 0.080 | 15 | 40415482 | missense variant | G/C;T | snv | 8.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
13 | 0.790 | 0.400 | 7 | 140753348 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 2 | 161420222 | missense variant | C/G;T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
10 | 0.882 | 0.160 | 2 | 161423752 | frameshift variant | -/GGCTGCA | delins | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.280 | 6 | 157207395 | frameshift variant | CC/- | delins | 0.700 | 0 | ||||||||
|
5 | 1.000 | 0.280 | 9 | 2086854 | missense variant | A/G | snv | 0.700 | 0 |