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 | 0.925 | 0.120 | 4 | 3473504 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.120 | 15 | 42399617 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | X | 31875197 | frameshift variant | -/AATG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 32823294 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | X | 32518006 | splice donor variant | A/C | snv | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.120 | 7 | 128957260 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.120 | 2 | 71551635 | missense variant | T/C | snv | 2.9E-05 | 0.700 | 0 | |||||||
|
5 | 0.925 | 0.120 | 6 | 129486605 | missense variant | T/C;G | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 1 | 156136045 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 156115022 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 2 | 71511847 | missense variant | G/A | snv | 7.1E-03 | 4.1E-03 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.120 | 2 | 178790707 | splice donor variant | C/T | snv | 4.8E-05 | 5.6E-05 | 0.700 | 0 | ||||||
|
4 | 0.925 | 0.120 | 2 | 151501423 | stop gained | G/A | snv | 2.7E-04 | 3.0E-04 | 0.700 | 0 | ||||||
|
5 | 0.827 | 0.120 | 1 | 156136036 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 6 | 152430672 | missense variant | A/G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 14 | 77301228 | frameshift variant | C/- | delins | 1.2E-05 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.120 | 4 | 3493047 | missense variant | C/T | snv | 5.5E-06 | 0.700 | 0 | |||||||
|
9 | 1.000 | 0.120 | 2 | 178527491 | stop gained | G/A | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 1 | 156138575 | missense variant | G/A | snv | 2.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
5 | 0.882 | 0.120 | 2 | 71656236 | stop gained | C/G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
10 | 0.851 | 0.120 | 15 | 42410958 | missense variant | G/C | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 1 | 156137212 | missense variant | C/G;T | snv | 9.5E-06 | 0.700 | 0 | |||||||
|
22 | 0.851 | 0.120 | 12 | 21452130 | missense variant | A/G | snv | 4.7E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 14 | 77283874 | splice acceptor variant | CTAGG/TCA | delins | 0.700 | 0 | ||||||||
|
21 | 0.827 | 0.120 | 15 | 42387803 | frameshift variant | A/- | delins | 0.700 | 0 |