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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 2 | 149582147 | frameshift variant | -/C | delins | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 2 | 149579574 | frameshift variant | -/C | delins | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 2 | 149570117 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 2 | 149576495 | stop gained | -/T | delins | 2.1E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 2 | 149571079 | splice donor variant | CACT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 149582220 | frameshift variant | -/TA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 149576459 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 149570089 | missense variant | A/G | snv | 2.4E-05 | 0.700 | 1.000 | 3 | 2008 | 2015 | ||||
|
2 | 0.925 | 0.080 | 2 | 149575775 | missense variant | G/T | snv | 1.2E-05 | 0.700 | 1.000 | 3 | 2008 | 2015 | ||||
|
2 | 0.925 | 0.080 | 2 | 149570119 | missense variant | T/C | snv | 7.2E-05 | 3.5E-05 | 0.700 | 1.000 | 3 | 2008 | 2015 | |||
|
2 | 0.925 | 0.080 | 2 | 149579643 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 2 | 149582217 | frameshift variant | TAAAGAGC/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 149579478 | inframe insertion | -/TGATAAAGGTTCTGCTAG | delins | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 2 | 149582256 | frameshift variant | CT/- | delins | 0.700 | 0 |