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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.790 | 0.160 | 10 | 87961067 | stop gained | TGACAAAGCAAATA/CGCTT | delins | 0.700 | 0 | ||||||||
|
25 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
25 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.160 | 10 | 87952135 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
13 | 0.742 | 0.240 | 10 | 87933127 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
8 | 0.790 | 0.160 | 10 | 87933129 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
8 | 0.790 | 0.160 | 10 | 87894049 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.160 | 10 | 87925557 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
8 | 0.776 | 0.240 | 10 | 87957858 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.160 | 10 | 87957984 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
23 | 0.683 | 0.400 | 10 | 87933148 | missense variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
8 | 0.790 | 0.160 | 10 | 87933154 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
101 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
12 | 0.742 | 0.360 | 10 | 87931091 | splice donor variant | T/A;C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.790 | 0.160 | 10 | 87957872 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.160 | 10 | 87960957 | frameshift variant | -/CT;TTCT | ins | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.160 | 10 | 87961107 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.160 | 10 | 87933057 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.160 | 10 | 87933061 | frameshift variant | -/AAACC | delins | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.160 | 10 | 87933253 | splice donor variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
13 | 0.742 | 0.360 | 10 | 87933163 | missense variant | T/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.790 | 0.160 | 10 | 87952159 | stop gained | TA/AT | mnv | 0.700 | 0 | ||||||||
|
8 | 0.790 | 0.160 | 10 | 87925550 | missense variant | T/A;C;G | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.160 | 10 | 87933106 | frameshift variant | ACAAT/- | del | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.160 | 10 | 87957914 | frameshift variant | A/- | del | 0.700 | 0 |