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 | 7 | 94409404 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50195284 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50194813 | stop gained | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50196483 | splice donor variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 7 | 94404702 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 94405196 | splice region variant | T/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 7 | 94408815 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 7 | 94412656 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 7 | 94412683 | splice donor variant | G/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 7 | 94415254 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 7 | 94425162 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 7 | 94425199 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50185936 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50186807 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50186913 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50187051 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50187114 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50187500 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50187959 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50187960 | frameshift variant | -/TC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50188112 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50189418 | frameshift variant | GGCCAG/CGCCA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50191401 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50191479 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50192639 | splice donor variant | C/T | snv | 0.700 | 0 |