| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.800 | 0.929 | 14 | 2001 | 2016 | ||||||||
|
0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 |
|
0.700 | 1.000 | 9 | 2003 | 2012 | |||||||
|
0.752 | 0.240 | 22 | 28695800 | missense variant | T/A;C;G | snv | 2.4E-05 |
|
0.810 | 1.000 | 5 | 2002 | 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 | |||||||
|
0.790 | 0.240 | 22 | 28725254 | missense variant | G/A;T | snv | 5.2E-05 |
|
0.700 | 1.000 | 15 | 2001 | 2016 | ||||||||
|
0.827 | 0.360 | 22 | 28695239 | frameshift variant | A/- | delins | 4.4E-05 | 5.6E-05 |
|
0.700 | 1.000 | 2 | 2011 | 2014 | |||||||
|
0.827 | 0.200 | 22 | 28725278 | stop gained | G/A;C | snv | 2.4E-05 | 7.0E-06 |
|
0.710 | 1.000 | 0 | 2016 | 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 | ||||||||
|
0.851 | 0.200 | 22 | 28734401 | splice donor variant | A/G;T | snv | 4.0E-06; 6.8E-05 |
|
0.700 | 1.000 | 5 | 2016 | 2018 | ||||||||
|
0.851 | 0.160 | 22 | 28710005 | splice donor variant | C/A;G;T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2014 | |||||||||
|
0.851 | 0.200 | 22 | 28725270 | stop gained | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 22 | 28694073 | missense variant | G/A;C;T | snv | 1.7E-05 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 22 | 28725241 | splice donor variant | A/C;G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 22 | 28734506 | stop gained | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | 22 | 28711994 | missense variant | A/G;T | snv | 3.5E-04; 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 22 | 28734664 | stop gained | G/A | snv | 1.4E-04 | 2.8E-05 |
|
0.720 | 1.000 | 3 | 2014 | 2016 | |||||||
|
0.882 | 0.200 | 22 | 28719423 | frameshift variant | C/- | del |
|
0.700 | 1.000 | 2 | 2011 | 2014 | |||||||||
|
0.882 | 0.120 | 22 | 28711986 | stop gained | C/A;G;T | snv | 8.0E-06; 4.0E-06; 7.6E-05 |
|
0.700 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.925 | 0.080 | 22 | 28725338 | missense variant | T/C | snv | 1.2E-04 | 9.1E-05 |
|
0.710 | 1.000 | 18 | 2002 | 2019 | |||||||
|
0.925 | 0.200 | 22 | 28687974 | stop gained | G/A;C | snv | 4.3E-06 |
|
0.700 | 1.000 | 5 | 2003 | 2016 | ||||||||
|
0.925 | 0.160 | 22 | 28695709 | splice donor variant | C/A;G;T | snv |
|
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 | |||||||||
|
0.925 | 0.200 | 22 | 28725084 | inframe deletion | TCT/- | delins | 1.6E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 22 | 28725070 | missense variant | C/T | snv | 2.4E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 22 | 28734637 | stop gained | G/A | snv | 4.0E-06; 8.0E-06 |
|
0.700 | 0 |