Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 3 | 101231117 | stop gained | G/A | snv | 3.6E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 3 | 101232983 | splice region variant | -/TTCATCACCTAAAA | delins | 1.6E-05 | 4.2E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 3 | 101242782 | frameshift variant | G/- | del |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 3 | 101243905 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 3 | 101244057 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 3 | 101275694 | stop gained | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 3 | 101304277 | missense variant | A/G | snv | 6.4E-05 | 4.2E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 3 | 101319800 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 8 | 10612126 | stop gained | G/A | snv | 2.4E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 8 | 10622967 | missense variant | G/A | snv | 1.4E-04 | 8.4E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 6 | 10803830 | missense variant | C/T | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 6 | 10803886 | missense variant | C/T | snv | 2.1E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 6 | 10803887 | missense variant | G/A | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 6 | 10813661 | frameshift variant | -/C | delins | 1.2E-05; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 111929283 | frameshift variant | A/- | del | 1.4E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 2 | 112019497 | stop gained | C/T | snv | 8.0E-06 | 4.2E-05 |
|
0.700 | 1.000 | 1 | 2004 | 2004 | |||||||
|
1.000 | 0.080 | 2 | 112019512 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 112019513 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.882 | 0.200 | 3 | 121772605 | frameshift variant | TG/- | delins | 8.0E-05 | 7.0E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 3 | 121772683 | missense variant | C/T | snv | 1.1E-03 | 1.4E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.120 | 4 | 122743422 | inframe deletion | CAGATGCAA/- | delins | 4.0E-05 | 8.4E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 7 | 128398560 | missense variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 3 | 129528777 | missense variant | A/G | snv |
|
0.710 | 1.000 | 0 | 1998 | 1998 | |||||||||
|
0.807 | 0.160 | 3 | 129528783 | missense variant | C/T | snv | 7.0E-06 |
|
0.750 | 1.000 | 1 | 2014 | 2019 | ||||||||
|
0.925 | 0.080 | 3 | 129528786 | missense variant | G/A;C | snv | 8.0E-05; 8.0E-06 |
|
0.710 | 1.000 | 0 | 2019 | 2019 |