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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.776 | 0.280 | 11 | 6614968 | frameshift variant | C/-;CC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 6615449 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 6617052 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 6614687 | splice acceptor variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 6614576 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 6617777 | splice acceptor variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 11 | 6616973 | splice donor variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 6616728 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 11 | 6616004 | splice donor variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 6616057 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 11 | 6615256 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 11 | 6615203 | frameshift variant | GT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 6614617 | frameshift variant | GACCAGAGCAG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 6615228 | frameshift variant | GA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 6615251 | inframe insertion | -/CGGCCACTGGCA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 6616075 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
12 | 0.776 | 0.280 | 11 | 6616858 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 6617386 | stop gained | -/T | delins | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.160 | 11 | 6618821 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 6616052 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.160 | 11 | 6617621 | splice region variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.160 | 11 | 6617338 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 6616750 | missense variant | C/T | snv | 1.2E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 11 | 6616374 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 0.800 | 0 | ||||||
|
1 | 1.000 | 0.120 | 11 | 6619383 | splice donor variant | C/G;T | snv | 0.700 | 0 |