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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 1.000 | 19 | 45385569 | stop gained | G/C | snv | 0.700 | 0 | |||||||||
|
3 | 0.925 | 0.160 | 2 | 178528273 | splice donor variant | C/G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 2 | 178538945 | splice donor variant | C/G;T | snv | 0.700 | 0 | ||||||||||
|
3 | 0.925 | 0.160 | 6 | 7579989 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 14 | 23417173 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
10 | 0.851 | 0.040 | 14 | 104741231 | missense variant | G/A | snv | 3.4E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 2 | 178740175 | frameshift variant | G/- | delins | 4.0E-06 | 0.700 | 0 | |||||||||
|
4 | 0.882 | 0.080 | 12 | 110913097 | missense variant | T/G | snv | 2.0E-04 | 2.9E-04 | 0.700 | 0 | ||||||
|
1 | 6 | 7579697 | stop gained | C/A;T | snv | 1.4E-04 | 0.700 | 0 | |||||||||
|
4 | 0.925 | 0.040 | 1 | 156136080 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 2 | 178528524 | splice donor variant | ACTGGCAGGTTGTTTTTAAACCATTCGATT/- | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 178564611 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.040 | 2 | 178570586 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 2 | 178570689 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 178572745 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 178609440 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||||
|
4 | 0.925 | 0.040 | 2 | 178616928 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 2 | 178633304 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.040 | 4 | 173529091 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 5 | 173232833 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 6 | 7555773 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 6 | 7579323 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 6 | 7579922 | frameshift variant | -/AAATCGA | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 6 | 7580495 | frameshift variant | CACTG/- | del | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 6 | 7581189 | stop gained | C/T | snv | 0.700 | 0 |