| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 8 | 54625333 | stop gained | C/A | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 |
|
0.700 | 1.000 | 1 | 1997 | 1997 | |||||||
|
1 | 68448644 | missense variant | G/A;C | snv | 1.6E-05 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
0.851 | 0.080 | 2 | 61839695 | stop gained | T/A | snv | 2.8E-04 | 2.9E-04 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 2 | 61839437 | stop gained | G/A;C;T | snv | 4.8E-05; 1.8E-04 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
4 | 15998489 | splice acceptor variant | C/G | snv | 3.0E-05 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
4 | 16023380 | stop gained | G/A;C | snv | 1.7E-05 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
1.000 | 0.080 | 6 | 63864319 | stop gained | A/C | snv | 1.9E-05 | 4.2E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 2 | 181604002 | missense variant | G/A;T | snv | 5.2E-05; 5.2E-05 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 1 | 94098904 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
1.000 | 1 | 94078611 | missense variant | G/C | snv | 8.0E-06 | 8.3E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 1 | 94062710 | missense variant | G/A | snv | 4.4E-05 | 2.1E-05 |
|
0.710 | 1.000 | 1 | 1999 | 2014 | |||||||
|
0.925 | 0.080 | 1 | 94046922 | missense variant | G/A;T | snv | 2.0E-05; 3.6E-05 |
|
0.700 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
1.000 | 1 | 94031027 | missense variant | A/G | snv | 1.6E-05 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 1 | 94030991 | splice region variant | C/A;T | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
0.827 | 0.080 | 17 | 8014701 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
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 | |||||||
|
0.827 | 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 |