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 | 0.160 | 22 | 29655633 | frameshift variant | GA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 22 | 29655640 | frameshift variant | TT/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 22 | 29655677 | splice donor variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 22 | 29658245 | frameshift variant | -/A | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 22 | 29668415 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 22 | 29674840 | frameshift variant | AA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 22 | 29678194 | splice acceptor variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 22 | 29678255 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 22 | 29678299 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 22 | 29681602 | splice donor variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 22 | 29681603 | splice donor variant | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 22 | 29636877 | splice donor variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 22 | 29655621 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 22 | 29661313 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 22 | 29668405 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 22 | 29671847 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 22 | 29673365 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 22 | 29681443 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 22 | 29673383 | missense variant | A/G | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 22 | 29636816 | stop gained | G/A;C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 22 | 29681491 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 22 | 29661327 | stop gained | C/G;T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 |