| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | 11 | 68939658 | frameshift variant | AG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 11 | 68908338 | splice donor variant | G/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 18 | 79710825 | intron variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.925 | 0.080 | 1 | 161306719 | frameshift variant | TACA/- | delins |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.080 | 1 | 161306900 | stop gained | G/A | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.080 | 8 | 74364305 | frameshift variant | -/T | delins | 4.0E-06 | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.080 | 1 | 161305973 | splice acceptor variant | TCTGGGGGAGGGGCG/- | delins |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.080 | 17 | 15259134 | frameshift variant | G/- | delins |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.080 | 5 | 149010294 | frameshift variant | C/- | delins | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 22 | 50465006 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 11 | 68911496 | missense variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 2 | 219281772 | splice donor variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 2 | 219279847 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 9 | 127501009 | splice acceptor variant | G/A | snv | 2.0E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 12 | 57515926 | missense variant | C/A | snv | 3.6E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 9 | 127502846 | frameshift variant | -/GC | delins |
|
0.710 | 1.000 | 0 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 7 | 76303817 | missense variant | G/A;T | snv | 4.0E-06 | 2.8E-05 |
|
0.700 | 1.000 | 5 | 2004 | 2014 | |||||||
|
1.000 | 0.080 | 5 | 149038339 | frameshift variant | G/- | del |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.080 | 19 | 10797424 | missense variant | A/G | snv | 1.1E-04 | 1.0E-04 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 8 | 1882687 | missense variant | G/A;C | snv | 1.8E-05 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 14 | 101985925 | missense variant | G/A | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 5 | 149028348 | stop gained | C/A | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 1 | 161307356 | frameshift variant | GGGAGCCC/- | delins | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 8 | 74361900 | frameshift variant | A/- | del | 4.0E-06 | 2.8E-05 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | X | 71223757 | missense variant | C/G | snv |
|
0.700 | 0 |