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 | 0.080 | 19 | 11105492 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 19 | 11123200 | stop gained | G/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 19 | 11105245 | frameshift variant | TTTCG/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 19 | 11120123 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 19 | 11105372 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.120 | 19 | 11113277 | splice acceptor variant | G/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 19 | 11113347 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 19 | 11113406 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 19 | 11113705 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 19 | 11120099 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 21043911 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 19 | 11111628 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 11113360 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 11120383 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 19 | 11105587 | inframe deletion | AGGAAAACTGCG/- | delins | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 19 | 11100271 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 19 | 11100350 | splice region variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 19 | 11102724 | frameshift variant | -/CATTCTG | ins | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 19 | 11105223 | frameshift variant | CAAGACGTGCTCCCAGGAC/- | delins | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 19 | 11105424 | stop gained | CGAAGATGGCTCGG/- | delins | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 19 | 11105434 | synonymous variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 19 | 11105471 | frameshift variant | GTGT/TG | delins | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 19 | 11105519 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 1.000 | 0.080 | 19 | 11105572 | stop gained | CAAGGACAAATCTGACGAGGAAA/- | del | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 19 | 11105575 | protein altering variant | GGACAAATCTGACGA/AACTGCGGTAAACTGCGGTAAACT | delins | 0.700 | 0 |