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 | 0.120 | 5 | 87341293 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 87377028 | frameshift variant | -/T | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 5 | 87379801 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 87379775 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 87386886 | frameshift variant | -/TTTTA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 87268712 | frameshift variant | AG/- | del | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 5 | 87386850 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 87369861 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.120 | 5 | 87331464 | stop gained | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 87383729 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 2013 | 2016 | |||||
|
2 | 0.925 | 0.120 | 5 | 87376941 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 5 | 87389522 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 87362573 | frameshift variant | CA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 87390845 | frameshift variant | CAAA/- | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.120 | 5 | 87268922 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 87331417 | frameshift variant | CTTAT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 87379851 | splice donor variant | G/A | snv | 0.700 | 1.000 | 3 | 2008 | 2013 | |||||
|
1 | 1.000 | 0.120 | 5 | 87385390 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 87389510 | stop gained | G/T | snv | 0.700 | 1.000 | 2 | 2013 | 2018 | |||||
|
1 | 1.000 | 0.120 | 5 | 87386842 | frameshift variant | GT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 87369902 | splice donor variant | T/C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 5 | 87374837 | splice region variant | T/C;G | snv | 3.0E-04 | 3.8E-04 | 0.700 | 0 |