| 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 | 0.280 | X | 136002214 | splice donor variant | G/A | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 1.000 | 0.280 | X | 136002195 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | X | 136024365 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | X | 136024339 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | X | 136010554 | inframe deletion | GGTGCTGCT/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | X | 136030154 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | X | 135985685 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | X | 136044696 | stop gained | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | X | 135998188 | splice region variant | AA/CC | mnv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | X | 135998486 | frameshift variant | AT/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.280 | X | 135998095 | splice region variant | TTTTA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | X | 136002171 | inframe deletion | AAAGTG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | X | 136012979 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 |