| 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 | 94001911 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 1 | 1997 | 1997 | ||||||||
|
0.925 | 0.120 | 1 | 94000870 | stop gained | G/A | snv | 2.0E-05 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 1999 | 1999 | |||||||
|
0.925 | 0.080 | 1 | 68449890 | splice region variant | C/T | snv | 7.6E-05 | 1.4E-04 |
|
0.700 | 1.000 | 1 | 1997 | 1997 | |||||||
|
0.776 | 0.160 | 1 | 94043413 | missense variant | G/A | snv | 1.7E-03 | 1.7E-03 |
|
0.700 | 1.000 | 1 | 1997 | 1997 | |||||||
|
0.827 | 0.080 | 1 | 94005500 | stop gained | G/A | snv | 2.8E-05 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 1999 | 1999 | |||||||
|
0.925 | 0.040 | 1 | 94007722 | frameshift variant | C/- | del | 2.8E-05 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2000 | 2000 | |||||||
|
0.827 | 0.080 | 1 | 94063250 | missense variant | A/G | snv | 1.5E-04 | 1.7E-04 |
|
0.700 | 1.000 | 1 | 1998 | 1998 | |||||||
|
0.882 | 0.080 | 1 | 94029515 | missense variant | C/T | snv | 6.3E-05 | 5.6E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.080 | 1 | 94021340 | missense variant | G/A;C | snv | 3.2E-05; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.120 | 1 | 94014622 | missense variant | G/T | snv | 2.0E-05 | 2.8E-05 |
|
0.700 | 1.000 | 1 | 1999 | 1999 | |||||||
|
0.925 | 0.040 | X | 18647213 | missense variant | G/A | snv | 5.5E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1 | 94042786 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2001 | 2001 | |||||||||||
|
0.807 | 0.080 | 1 | 197434706 | missense variant | G/A | snv | 2.1E-04 | 2.2E-04 |
|
0.700 | 1.000 | 1 | 1999 | 1999 | |||||||
|
1.000 | 1 | 215674537 | frameshift variant | T/- | delins | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.080 | 2 | 29073504 | stop gained | C/T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 10 | 84211139 | frameshift variant | G/- | delins | 6.0E-05 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
3 | 101244651 | stop gained | A/G;T | snv | 2.4E-05 | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
20 | 25339350 | stop gained | G/A | snv | 2.0E-05 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.040 | 1 | 94080692 | frameshift variant | G/- | del |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.040 | 1 | 94018445 | intron variant | C/T | snv | 1.3E-04 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 4 | 16033377 | stop gained | G/A;T | snv | 1.2E-05; 8.0E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
10 | 47348733 | missense variant | C/A;T | snv | 4.0E-06; 3.2E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
10 | 47349721 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.080 | 9 | 2717745 | frameshift variant | AACA/- | delins |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.790 | 0.200 | 1 | 216247118 | missense variant | C/A | snv | 9.7E-04 | 1.3E-03 |
|
0.700 | 1.000 | 1 | 2000 | 2000 |