| 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 | 0.080 | 1 | 179551453 | splice acceptor variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.020 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
0.925 | 0.080 | 1 | 179564699 | frameshift variant | G/- | del |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 1 | 179557080 | stop gained | G/A;T | snv | 8.0E-06 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 1 | 179552682 | splice acceptor variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 1 | 179575862 | start lost | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 1 | 179575722 | frameshift variant | -/AGCCC | delins | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 1 | 179575769 | frameshift variant | -/TA | ins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 1 | 179551262 | frameshift variant | -/G | delins | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 1 | 179552617 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 1 | 179559762 | splice acceptor variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 |
|
0.030 | 1.000 | 3 | 2015 | 2017 | |||||||
|
0.925 | 0.080 | 1 | 179575699 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 1 | 179557025 | splice donor variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 1 | 179551304 | missense variant | G/A | snv |
|
0.700 | 1.000 | 14 | 2000 | 2015 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.080 | 1 | 179561315 | missense variant | A/G | snv |
|
0.700 | 1.000 | 14 | 2000 | 2015 | |||||||||
|
0.925 | 0.080 | 1 | 179557179 | stop gained | G/A;C;T | snv | 1.2E-05; 8.0E-06 |
|
0.700 | 1.000 | 2 | 2001 | 2005 | ||||||||
|
0.925 | 0.080 | 1 | 179575709 | frameshift variant | C/- | delins | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 1 | 179557231 | splice acceptor variant | C/A | snv | 7.0E-06 |
|
0.700 | 1.000 | 3 | 2002 | 2006 | ||||||||
|
0.925 | 0.080 | 1 | 179575760 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 1 | 179575782 | missense variant | T/A | snv | 2.8E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 179561324 | missense variant | A/C | snv | 7.0E-06 |
|
0.700 | 1.000 | 14 | 2000 | 2015 | ||||||||
|
0.851 | 0.080 | 1 | 179575654 | stop gained | G/A | snv | 4.3E-06 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 1 | 179575777 | stop gained | C/A;T | snv | 9.9E-06 |
|
0.700 | 0 |