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 | 22 | 50626842 | frameshift variant | -/TA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 22 | 50627403 | frameshift variant | -/TA | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 22 | 50626204 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 22 | 50626151 | splice donor variant | ACCG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 22 | 50626973 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 22 | 50627054 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 22 | 50626242 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 22 | 50627023 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 22 | 50627682 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 22 | 50626973 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 22 | 50626593 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 22 | 50625401 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 22 | 50625352 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 22 | 50625443 | frameshift variant | TATCACTGTGG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 22 | 50626007 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 22 | 50626207 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 22 | 50627164 | splice donor variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 22 | 50627335 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 22 | 50627555 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 22 | 50627571 | frameshift variant | GAGA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 22 | 50627778 | start lost | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 22 | 50625586 | inframe deletion | AAG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 22 | 50626216 | missense variant | G/A | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 22 | 50626844 | missense variant | T/C | snv | 6.4E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 22 | 50627261 | missense variant | C/A;T | snv | 1.4E-05 | 0.700 | 0 |