| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 116616634 | stop gained | C/G | snv |
|
0.700 | 0 | ||||||||||||||
|
1.000 | 0.120 | 6 | 116616948 | stop gained | C/T | snv | 8.0E-06 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
6 | 116617053 | stop gained | C/T | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.120 | 6 | 116617083 | stop gained | C/T | snv | 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
6 | 116617143 | frameshift variant | A/-;AA | delins |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
6 | 116622771 | stop gained | T/G | snv |
|
0.700 | 0 | ||||||||||||||
|
0.925 | 0.160 | 6 | 116623002 | splice region variant | AAGT/- | delins | 2.7E-04 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
6 | 116627775 | stop gained | G/A;T | snv | 4.0E-06; 8.0E-06 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 116628058 | stop gained | C/T | snv | 2.8E-05 | 4.9E-05 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
6 | 116628100 | stop gained | C/T | snv | 2.4E-05 | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
6 | 116628160 | stop gained | C/T | snv | 8.0E-06 | 2.1E-05 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 6 | 116628175 | stop gained | C/T | snv | 8.0E-06 | 2.1E-05 |
|
0.700 | 1.000 | 2 | 2009 | 2012 | |||||||
|
6 | 116628368 | splice donor variant | TAGG/- | delins | 1.2E-05 | 2.8E-05 |
|
0.700 | 1.000 | 3 | 2009 | 2013 | |||||||||
|
6 | 116629594 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||||
|
6 | 116629610 | frameshift variant | A/- | delins | 4.2E-05 |
|
0.700 | 0 | |||||||||||||
|
1.000 | 8 | 132632794 | frameshift variant | TT/- | del | 2.0E-05 | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 8 | 132632816 | frameshift variant | -/T | delins | 4.0E-06 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 8 | 132632819 | stop gained | G/A;C | snv | 1.2E-05; 1.5E-03 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 8 | 132632957 | missense variant | C/G | snv | 1.6E-04 | 1.0E-04 |
|
0.700 | 0 | |||||||||||
|
1.000 | 8 | 132656866 | missense variant | C/G | snv | 2.7E-05 | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
5 | 13700730 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1.000 | 0.160 | 5 | 13701289 | stop gained | G/A | snv | 6.0E-05 | 6.3E-05 |
|
0.700 | 1.000 | 3 | 2006 | 2015 | |||||||
|
5 | 13701316 | frameshift variant | -/A | delins | 6.4E-05 | 8.4E-05 |
|
0.700 | 1.000 | 3 | 2006 | 2014 | |||||||||
|
5 | 13701349 | stop gained | G/A | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||||
|
5 | 13701429 | stop gained | C/T | snv |
|
0.700 | 0 |