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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 4 | 88046854 | missense variant | A/T | snv | 0.800 | 1.000 | 13 | 1997 | 2018 | |||||
|
2 | 0.925 | 0.120 | 4 | 88038371 | missense variant | C/T | snv | 0.800 | 1.000 | 13 | 1997 | 2018 | |||||
|
2 | 0.925 | 0.120 | 4 | 88038380 | stop gained | C/T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.120 | 4 | 88043458 | splice donor variant | G/A | snv | 8.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 4 | 88046780 | stop gained | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 88043277 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 4 | 88065479 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 4 | 88043351 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 88046712 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 4 | 88019499 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 4 | 88038372 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 4 | 88067959 | missense variant | G/A | snv | 3.0E-03 | 3.1E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 4 | 88008210 | frameshift variant | GGCCCGCCGTGCCCCAGCCCAG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 88019552 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 88038392 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 88038494 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 4 | 88038502 | splice region variant | AAGT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 88056272 | splice region variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 88074812 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 88019554 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 88038406 | frameshift variant | C/AGA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 88052064 | frameshift variant | TCAA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 88056106 | frameshift variant | TAACAGGACC/AACAGG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 88058018 | frameshift variant | AC/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 88068039 | frameshift variant | -/T | delins | 0.700 | 0 |