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 | 150951004 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 150951065 | stop gained | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 150952646 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 150958439 | frameshift variant | ACGACTCCCGGGCCGTCAGCGCCAG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 150959574 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 150959583 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 150974767 | frameshift variant | ATCTGCGCGGCAGCGCGGCGCTGCGTGCGCG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 150977847 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 2572899 | stop gained | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 2445192 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 2445478 | frameshift variant | -/GC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 92099838 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 150952849 | frameshift variant | AG/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 150958048 | splice donor variant | CCCTCACCGGTGCTGGCG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 2572062 | frameshift variant | ACCTGGAGGC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 2585305 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 11 | 2571345 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 11 | 2572033 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 11 | 2572880 | missense variant | G/A;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 11 | 2583526 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 11 | 2583537 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 11 | 2587576 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 11 | 2587581 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 11 | 2776997 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 7 | 150974890 | missense variant | T/C | snv | 0.700 | 0 |