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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.160 | 2 | 26421396 | stop gained | C/A;T | snv | 3.9E-04 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
2 | 26450086 | splice donor variant | G/A;T | snv | 8.1E-05; 4.1E-06 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 26444221 | splice acceptor variant | G/T | snv | 8.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.160 | 2 | 195857582 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
3 | 180659582 | splice acceptor variant | T/C | snv | 1.2E-04 | 8.4E-05 |
|
0.700 | 1.000 | 4 | 2011 | 2013 | |||||||||
|
1.000 | 0.120 | 3 | 180661860 | splice donor variant | C/G | snv | 1.6E-04 | 7.0E-05 |
|
0.700 | 1.000 | 3 | 2011 | 2013 | |||||||
|
1.000 | 0.120 | 3 | 180651496 | frameshift variant | T/- | delins | 1.4E-05 |
|
0.700 | 1.000 | 3 | 2011 | 2014 | ||||||||
|
3 | 50342917 | splice donor variant | C/T | snv | 4.0E-06 |
|
0.700 | 1.000 | 2 | 2013 | 2013 | ||||||||||
|
0.925 | 0.160 | 3 | 50345533 | splice donor variant | A/C | snv | 2.7E-04 | 2.1E-04 |
|
0.700 | 1.000 | 2 | 2013 | 2013 | |||||||
|
3 | 180616697 | splice acceptor variant | T/- | del |
|
0.700 | 1.000 | 2 | 2011 | 2013 | |||||||||||
|
3 | 180642072 | stop gained | G/A;T | snv | 7.6E-05; 8.1E-06 |
|
0.700 | 1.000 | 2 | 2013 | 2014 | ||||||||||
|
1.000 | 0.120 | 3 | 180619334 | frameshift variant | T/- | delins | 2.6E-05 | 1.4E-05 |
|
0.700 | 1.000 | 2 | 2011 | 2016 | |||||||
|
3 | 180644119 | splice donor variant | C/T | snv | 6.8E-06 |
|
0.700 | 1.000 | 2 | 2011 | 2013 | ||||||||||
|
1.000 | 0.120 | 3 | 180654861 | frameshift variant | GT/- | delins | 4.2E-05 |
|
0.700 | 1.000 | 2 | 1990 | 2013 | ||||||||
|
3 | 180616604 | frameshift variant | GT/- | delins | 8.7E-06 | 2.8E-05 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.160 | 3 | 50342473 | missense variant | A/G | snv | 2.0E-04 | 3.5E-05 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
3 | 180650140 | intron variant | T/C | snv | 5.0E-04 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 3 | 50345495 | missense variant | A/G | snv | 2.2E-05 | 9.8E-05 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
3 | 180652161 | splice donor variant | A/T | snv |
|
0.700 | 0 | ||||||||||||||
|
3 | 180651409 | frameshift variant | C/- | del | 5.9E-06 |
|
0.700 | 0 | |||||||||||||
|
3 | 180642111 | frameshift variant | C/- | del | 4.0E-06 |
|
0.700 | 0 | |||||||||||||
|
3 | 180659577 | splice acceptor variant | AACT/- | delins | 4.0E-06 |
|
0.700 | 0 | |||||||||||||
|
3 | 180616551 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||||
|
3 | 180641992 | splice donor variant | C/T | snv |
|
0.700 | 0 | ||||||||||||||
|
3 | 180647254 | intron variant | T/C | snv |
|
0.700 | 0 |