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 | 0.120 | 7 | 150947453 | stop gained | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 2445295 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 2572069 | frameshift variant | AGGCTCCTGG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 2572062 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 2587616 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 150951698 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 150950200 | frameshift variant | -/TC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 3 | 8733882 | frameshift variant | GG/- | del | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 7 | 150948978 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 150950983 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 150958306 | frameshift variant | TGCCA/G | delins | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.120 | 20 | 33410203 | missense variant | G/A | snv | 2.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 7 | 150951649 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 6 | 7579989 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
20 | 0.716 | 0.240 | 11 | 2585264 | missense variant | A/G | snv | 4.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 11 | 2445295 | frameshift variant | CGGCCGCGCCC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 2847874 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 150947381 | frameshift variant | -/GC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 150947383 | frameshift variant | -/ACCCG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 150947426 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 150948478 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 150950163 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 150950249 | inframe deletion | ATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 150950347 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 150950421 | splice acceptor variant | CTG/TT | delins | 0.700 | 0 |