| 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 | 197435170 | missense variant | G/A | snv | 2.8E-05 | 3.5E-05 |
|
0.800 | 1.000 | 9 | 2001 | 2017 | |||||||
|
0.807 | 0.080 | 1 | 197434706 | missense variant | G/A | snv | 2.1E-04 | 2.2E-04 |
|
0.800 | 1.000 | 7 | 1999 | 2017 | |||||||
|
0.882 | 0.080 | 1 | 197427559 | missense variant | C/A;G;T | snv | 4.0E-06; 6.8E-05 |
|
0.800 | 1.000 | 5 | 1999 | 2017 | ||||||||
|
0.925 | 0.080 | 1 | 197427873 | missense variant | G/A | snv | 2.4E-05 | 7.0E-06 |
|
0.800 | 1.000 | 3 | 2001 | 2017 | |||||||
|
0.925 | 0.080 | 1 | 197421266 | missense variant | T/C | snv | 8.0E-06 | 7.0E-05 |
|
0.800 | 1.000 | 2 | 2001 | 2017 | |||||||
|
1.000 | 1 | 197356840 | missense variant | G/A | snv |
|
0.800 | 1.000 | 0 | 2001 | 2017 | ||||||||||
|
0.925 | 0.080 | 1 | 197435162 | missense variant | T/C;G | snv |
|
0.800 | 1.000 | 0 | 2001 | 2017 | |||||||||
|
0.882 | 0.080 | 1 | 197427880 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 |
|
0.800 | 1.000 | 0 | 2001 | 2017 | |||||||
|
0.882 | 0.080 | 1 | 197427726 | stop gained | A/T | snv | 5.2E-05 | 1.3E-04 |
|
0.700 | 1.000 | 4 | 2001 | 2013 | |||||||
|
0.882 | 0.080 | 1 | 197421404 | stop gained | C/T | snv | 3.2E-05 | 1.4E-05 |
|
0.700 | 1.000 | 3 | 2008 | 2017 | |||||||
|
1.000 | 1 | 197268483 | splice donor variant | G/A | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 1 | 197328759 | frameshift variant | C/- | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 1 | 197421900 | stop gained | G/A | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 1 | 197477697 | frameshift variant | A/- | del | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 1 | 197427714 | missense variant | T/A;C | snv | 4.0E-06 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 1 | 197442284 | stop gained | G/A;T | snv | 1.6E-05 |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 1 | 197477775 | frameshift variant | CAACTCAGGG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.080 | 1 | 197328844 | inframe insertion | AATTGATGG/-;AATTGATGGAATTGATGG | delins | 7.7E-04 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 1 | 197429460 | stop gained | T/A;C | snv | 3.2E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 1 | 197356885 | missense variant | G/A | snv |
|
0.700 | 0 |