| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.080 | 1 | 179557051 | missense variant | C/A | snv | 8.0E-06; 4.0E-06 | 2.8E-05 |
|
0.800 | 1.000 | 9 | 2004 | 2015 | |||||||
|
0.701 | 0.240 | 1 | 179557079 | missense variant | C/T | snv | 3.0E-02 | 2.8E-02 |
|
0.810 | 1.000 | 20 | 2000 | 2015 | |||||||
|
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 | 179557122 | stop gained | G/A;C | snv | 1.2E-05; 8.4E-05 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 1 | 179557143 | missense variant | C/T | snv | 5.2E-05 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
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 | 179557227 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 |
|
0.800 | 1.000 | 20 | 2000 | 2015 | |||||||
|
0.925 | 0.080 | 1 | 179557231 | splice acceptor variant | C/A | snv | 7.0E-06 |
|
0.700 | 1.000 | 3 | 2002 | 2006 | ||||||||
|
0.807 | 0.080 | 1 | 179559710 | missense variant | C/T | snv | 1.4E-05 |
|
0.800 | 1.000 | 24 | 2000 | 2015 | ||||||||
|
0.925 | 0.080 | 1 | 179559711 | missense variant | G/A | snv |
|
0.800 | 1.000 | 16 | 2000 | 2015 | |||||||||
|
0.925 | 0.080 | 1 | 179559734 | missense variant | T/A;C | snv |
|
0.800 | 1.000 | 14 | 2000 | 2015 | |||||||||
|
0.925 | 0.080 | 1 | 179559746 | frameshift variant | A/-;AA | delins |
|
0.700 | 1.000 | 7 | 2004 | 2017 | |||||||||
|
0.925 | 0.080 | 1 | 179559762 | splice acceptor variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 1 | 179561287 | splice donor variant | A/T | snv |
|
0.700 | 1.000 | 2 | 2004 | 2014 | |||||||||
|
1.000 | 0.080 | 1 | 179561315 | missense variant | A/G | snv |
|
0.700 | 1.000 | 14 | 2000 | 2015 | |||||||||
|
1.000 | 0.080 | 1 | 179561324 | missense variant | A/C | snv | 7.0E-06 |
|
0.700 | 1.000 | 14 | 2000 | 2015 | ||||||||
|
0.763 | 0.120 | 1 | 179561327 | missense variant | C/T | snv | 6.0E-04 | 5.3E-04 |
|
0.800 | 1.000 | 24 | 2000 | 2018 | |||||||
|
0.851 | 0.080 | 1 | 179561328 | stop gained | G/A | snv | 1.6E-05 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.925 | 0.080 | 1 | 179561355 | stop gained | G/A | snv | 8.0E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 1 | 179564689 | splice donor variant | C/T | snv | 8.0E-06 |
|
0.700 | 1.000 | 2 | 2008 | 2015 | ||||||||
|
0.925 | 0.080 | 1 | 179564699 | frameshift variant | G/- | del |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 1 | 179564703 | missense variant | C/A;G | snv | 4.0E-06; 2.4E-05 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.080 | 1 | 179564715 | missense variant | G/A | snv |
|
0.800 | 0 | ||||||||||||
|
1.000 | 0.080 | 1 | 179564779 | missense variant | C/T | snv | 3.6E-05 | 2.8E-05 |
|
0.700 | 1.000 | 14 | 2000 | 2015 | |||||||
|
0.925 | 0.080 | 1 | 179564795 | splice acceptor variant | T/C | snv |
|
0.700 | 0 |