| 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 | 21 | 42493049 | stop gained | C/A;T | snv | 2.6E-04; 2.0E-05 |
|
0.700 | 1.000 | 4 | 2013 | 2015 | ||||||||
|
0.925 | 0.160 | 21 | 42486463 | splice acceptor variant | T/G | snv | 3.7E-04 | 4.7E-04 |
|
0.700 | 1.000 | 3 | 2013 | 2014 | |||||||
|
1.000 | 0.160 | 21 | 42477286 | splice region variant | C/T | snv | 2.6E-04 | 6.6E-05 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 21 | 42486455 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
21 | 42486448 | frameshift variant | -/T | delins | 4.0E-06 | 2.8E-05 |
|
0.700 | 0 | ||||||||||||
|
21 | 42482620 | splice donor variant | GCTCCGCAACTTACCAT/- | delins |
|
0.700 | 0 | ||||||||||||||
|
21 | 42477153 | splice donor variant | CACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACTC/- | delins |
|
0.700 | 0 | ||||||||||||||
|
21 | 42477337 | frameshift variant | -/T | delins | 2.1E-05 |
|
0.700 | 0 | |||||||||||||
|
21 | 42482647 | stop gained | A/C | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.080 | X | 38322921 | missense variant | C/A | snv |
|
0.700 | 1.000 | 3 | 1997 | 2000 | |||||||||
|
X | 38297332 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||||
|
X | 38310641 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||||
|
3 | 50342917 | splice donor variant | C/T | snv | 4.0E-06 |
|
0.700 | 1.000 | 2 | 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 | |||||||
|
7 | 727077 | frameshift variant | CGCCGCGCGCT/- | delins |
|
0.700 | 0 | ||||||||||||||
|
7 | 727209 | splice donor variant | CCTGGACGAC/- | del |
|
0.700 | 0 | ||||||||||||||
|
0.925 | 0.120 | X | 13767142 | frameshift variant | AAATT/- | del |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.160 | X | 13767272 | frameshift variant | -/T | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.160 | X | 13768093 | stop gained | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.160 | X | 13768111 | stop gained | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
7 | 37888306 | stop gained | T/A;C | snv | 8.4E-05 |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.160 | 6 | 43670918 | inframe insertion | GAA/-;GAAGAA | delins | 4.2E-05 |
|
0.700 | 1.000 | 3 | 2009 | 2013 | ||||||||
|
5 | 55226917 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||||
|
1.000 | 8 | 132632819 | stop gained | G/A;C | snv | 1.2E-05; 1.5E-03 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 8 | 132632957 | missense variant | C/G | snv | 1.6E-04 | 1.0E-04 |
|
0.700 | 0 |