| 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 | 22 | 28725338 | missense variant | T/C | snv | 1.2E-04 | 9.1E-05 |
|
0.710 | 1.000 | 18 | 2002 | 2019 | |||||||
|
0.790 | 0.240 | 22 | 28725254 | missense variant | G/A;T | snv | 5.2E-05 |
|
0.700 | 1.000 | 15 | 2001 | 2016 | ||||||||
|
0.851 | 0.200 | 22 | 28725242 | splice donor variant | C/A;T | snv | 4.0E-06; 1.3E-04 |
|
0.700 | 1.000 | 14 | 2003 | 2017 | ||||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.800 | 0.929 | 14 | 2001 | 2016 | ||||||||
|
1.000 | 0.080 | 22 | 28734439 | stop gained | G/A;C | snv | 8.0E-06 | 2.8E-05 |
|
0.700 | 1.000 | 6 | 2008 | 2016 | |||||||
|
0.925 | 0.200 | 22 | 28687974 | stop gained | G/A;C | snv | 4.3E-06 |
|
0.700 | 1.000 | 5 | 2003 | 2016 | ||||||||
|
0.752 | 0.240 | 22 | 28695800 | missense variant | T/A;C;G | snv | 2.4E-05 |
|
0.810 | 1.000 | 5 | 2002 | 2018 | ||||||||
|
0.851 | 0.200 | 22 | 28734401 | splice donor variant | A/G;T | snv | 4.0E-06; 6.8E-05 |
|
0.700 | 1.000 | 5 | 2016 | 2018 | ||||||||
|
0.763 | 0.280 | 22 | 28695219 | missense variant | G/A | snv | 4.9E-04 | 2.6E-04 |
|
0.700 | 1.000 | 4 | 2005 | 2012 | |||||||
|
1.000 | 0.080 | 22 | 28689217 | splice acceptor variant | T/C | snv | 4.3E-06 |
|
0.700 | 1.000 | 4 | 2011 | 2016 | ||||||||
|
1.000 | 0.080 | 22 | 28710060 | splice acceptor variant | C/A;T | snv | 1.2E-05; 1.6E-05 |
|
0.700 | 1.000 | 4 | 2015 | 2016 | ||||||||
|
0.882 | 0.120 | 22 | 28734664 | stop gained | G/A | snv | 1.4E-04 | 2.8E-05 |
|
0.720 | 1.000 | 3 | 2014 | 2016 | |||||||
|
1.000 | 0.080 | 22 | 28695874 | splice acceptor variant | C/A;G;T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2014 | |||||||||
|
0.925 | 0.160 | 22 | 28695709 | splice donor variant | C/A;G;T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2014 | |||||||||
|
1.000 | 0.080 | 22 | 28695125 | splice donor variant | A/T | snv | 7.0E-06 |
|
0.700 | 1.000 | 2 | 2011 | 2014 | ||||||||
|
1.000 | 0.080 | 22 | 28695708 | splice donor variant | A/G | snv |
|
0.700 | 1.000 | 2 | 2011 | 2014 | |||||||||
|
1.000 | 0.080 | 22 | 28696988 | splice acceptor variant | C/T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2014 | |||||||||
|
1.000 | 0.080 | 22 | 28696899 | splice donor variant | A/C | snv |
|
0.700 | 1.000 | 2 | 2011 | 2014 | |||||||||
|
1.000 | 0.080 | 22 | 28711907 | splice donor variant | A/G | snv | 4.0E-06; 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 2 | 2011 | 2014 | |||||||
|
0.925 | 0.200 | 22 | 28703504 | splice donor variant | C/A;G;T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2014 | |||||||||
|
1.000 | 0.080 | 22 | 28696989 | splice acceptor variant | T/C | snv | 4.0E-06 |
|
0.700 | 1.000 | 2 | 2011 | 2014 | ||||||||
|
1.000 | 0.080 | 22 | 28696900 | splice donor variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2014 | |||||||||
|
1.000 | 0.080 | 22 | 28694030 | splice donor variant | A/C;G | snv | 4.3E-06 |
|
0.700 | 1.000 | 2 | 2011 | 2014 | ||||||||
|
1.000 | 0.080 | 22 | 28719393 | splice donor variant | A/G | snv |
|
0.700 | 1.000 | 2 | 2011 | 2014 | |||||||||
|
1.000 | 0.080 | 22 | 28695243 | splice acceptor variant | C/T | snv | 7.0E-06 |
|
0.700 | 1.000 | 2 | 2011 | 2014 |