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 | 3 | 37007050 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 2 | 47480695 | splice acceptor variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 2 | 47805027 | splice donor variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47799597 | inframe deletion | CTT/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.160 | 7 | 5986795 | frameshift variant | T/-;TT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 7 | 5973455 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 2 | 47475244 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 3 | 36993549 | start lost | T/A;C;G | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.160 | 2 | 47806490 | frameshift variant | -/GAGACTA | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 2 | 47806652 | splice donor variant | G/C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 2 | 47475166 | stop gained | T/G | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 2 | 47466802 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 2 | 47480696 | frameshift variant | GT/- | delins | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.160 | 2 | 47403403 | splice donor variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 3 | 37001012 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 3 | 36993651 | missense variant | TG/AC | mnv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 2 | 47482800 | stop gained | G/A;C;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 2 | 47799422 | missense variant | T/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 1.000 | 0.160 | 2 | 47416295 | splice acceptor variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47799235 | missense variant | T/C;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 2 | 47478521 | splice donor variant | T/C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 2 | 47799976 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 2 | 47806590 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.851 | 0.160 | 7 | 5992012 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 3 | 37008903 | splice region variant | C/G;T | snv | 4.0E-06 | 0.700 | 0 |