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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 1.000 | 0.080 | 17 | 31227215 | splice region variant | T/G | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 17 | 31334837 | splice acceptor variant | G/A | snv | 0.700 | 0 | ||||||||
|
13 | 0.790 | 0.280 | 17 | 31340532 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.120 | 17 | 31159091 | splice donor variant | G/- | delins | 0.700 | 0 | ||||||||
|
10 | 0.790 | 0.360 | 17 | 31258500 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 17 | 31325859 | stop gained | C/G | snv | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.080 | 17 | 31337882 | splice donor variant | T/- | del | 0.700 | 0 | ||||||||
|
9 | 0.882 | 0.120 | 17 | 31338734 | frameshift variant | TTAC/- | delins | 0.700 | 0 | ||||||||
|
11 | 0.827 | 0.320 | 17 | 31169985 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
6 | 0.882 | 0.200 | 17 | 31226474 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
7 | 0.925 | 0.120 | 17 | 31352281 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
13 | 0.790 | 0.320 | 17 | 31229061 | stop gained | C/T | snv | 0.700 | 0 |