| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 2 | 2008 | 2011 | |||||||||
|
0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2005 | 2012 | |||||||||
|
0.645 | 0.320 | 3 | 179218304 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 2 | 2005 | 2012 | |||||||||
|
0.677 | 0.280 | 3 | 179218306 | missense variant | C/A;G | snv |
|
0.700 | 1.000 | 2 | 2005 | 2012 | |||||||||
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 2 | 2008 | 2011 | |||||||||
|
0.882 | 0.280 | 17 | 61793698 | stop gained | C/A;G | snv | 4.0E-06 | 2.8E-05 |
|
0.700 | 1.000 | 2 | 2016 | 2016 | |||||||
|
0.882 | 0.280 | 17 | 61859868 | stop gained | C/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 2 | 2014 | 2015 | ||||||||
|
0.925 | 0.160 | 7 | 140781612 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.120 | 17 | 43063353 | frameshift variant | -/T | delins |
|
0.700 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
1.000 | 0.120 | 17 | 43091910 | frameshift variant | C/- | del |
|
0.700 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
1.000 | 0.120 | 17 | 43092472 | frameshift variant | G/- | delins |
|
0.700 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.882 | 0.280 | 17 | 61849155 | frameshift variant | TTCTT/- | delins |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.240 | 17 | 61861461 | frameshift variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.695 | 0.240 | 3 | 41224613 | missense variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.240 | 17 | 61801266 | frameshift variant | TG/- | delins | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.280 | 17 | 61743118 | frameshift variant | -/A | delins | 8.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.280 | 17 | 61780342 | frameshift variant | -/C | ins | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.280 | 17 | 61743015 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.200 | 17 | 43091924 | stop gained | G/A;C | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.882 | 0.280 | 17 | 61857233 | splice acceptor variant | T/C | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.200 | 17 | 43104949 | stop gained | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.776 | 0.280 | 17 | 43093570 | frameshift variant | TTTT/-;TT;TTT;TTTTT | delins | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.882 | 0.200 | 17 | 43091760 | frameshift variant | CT/- | delins | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2004 | 2004 |