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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.790 | 0.160 | X | 154360238 | missense variant | G/A | snv | 9.3E-06 | 0.700 | 1.000 | 3 | 2005 | 2006 | ||||
|
5 | 0.827 | 0.120 | X | 154367878 | missense variant | G/A | snv | 0.700 | 1.000 | 3 | 2003 | 2007 | |||||
|
4 | 0.851 | 0.120 | X | 154353914 | splice donor variant | C/G | snv | 0.700 | 1.000 | 3 | 2006 | 2015 | |||||
|
4 | 0.851 | 0.120 | X | 154359407 | splice acceptor variant | C/A | snv | 0.700 | 1.000 | 3 | 2006 | 2015 | |||||
|
5 | 0.827 | 0.120 | X | 154362417 | splice donor variant | C/G;T | snv | 0.700 | 1.000 | 3 | 2006 | 2015 | |||||
|
5 | 0.827 | 0.240 | X | 154358228 | missense variant | C/T | snv | 9.4E-06 | 0.700 | 1.000 | 2 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.120 | X | 154360127 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.120 | X | 154353329 | frameshift variant | AG/- | del | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.120 | X | 154357527 | frameshift variant | GTGTAGCGACCTG/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.120 | X | 154358440 | splice donor variant | TTACCTCC/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.120 | X | 154359846 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.120 | X | 154359897 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.120 | X | 154360266 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.120 | X | 154366618 | stop gained | -/TATTGGCGGT | delins | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.120 | X | 154353958 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.120 | X | 154367685 | stop gained | G/A | snv | 0.700 | 0 |