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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.160 | 3 | 10142073 | frameshift variant | TT/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 3 | 10149874 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 3 | 10142023 | frameshift variant | GGCCCGTGCTGCGC/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 3 | 10142124 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 3 | 10142116 | missense variant | A/C;G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 3 | 10142035 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 3 | 10142052 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 3 | 10146488 | coding sequence variant | -/TAACAACCTTTGCTTGTCCCGATAGGTCACCTTTGGCTCTTCAGAGATGCAGGGA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 3 | 10146550 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 3 | 10146593 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 3 | 10149854 | frameshift variant | ACTGGACATCGT/TC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 3 | 10149907 | frameshift variant | GA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 3 | 10142079 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 3 | 10142085 | frameshift variant | GTCCGCGCGTCGTGCTGCCCGTA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 3 | 10142137 | frameshift variant | TACC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 3 | 10142141 | stop gained | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 3 | 10142150 | frameshift variant | -/CC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 3 | 10146517 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 3 | 10146523 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 3 | 10146552 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 3 | 10146565 | frameshift variant | -/CC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 3 | 10146568 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 3 | 10146585 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 3 | 10146592 | protein altering variant | TCAATGTTG/ACAATTATTTGTGCCATCTCTCAA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 3 | 10146605 | frameshift variant | CAGCCTA/- | delins | 0.700 | 0 |