Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 2 | 151561212 | missense variant | C/A;T | snv | 5.9E-05; 8.4E-06 | 0.700 | 1.000 | 5 | 2006 | 2016 | ||||
|
4 | 0.882 | 0.080 | 2 | 151551738 | splice region variant | C/T | snv | 2.8E-05 | 7.0E-06 | 0.700 | 1.000 | 4 | 2014 | 2016 | |||
|
1 | 1.000 | 0.080 | 2 | 151498274 | frameshift variant | -/ATTG | delins | 0.700 | 1.000 | 3 | 2002 | 2015 | |||||
|
1 | 1.000 | 0.080 | 2 | 151630821 | splice acceptor variant | T/C | snv | 2.4E-05 | 4.2E-05 | 0.700 | 1.000 | 3 | 2012 | 2017 | |||
|
1 | 1.000 | 0.080 | 2 | 151706880 | splice donor variant | C/A;T | snv | 9.1E-06; 1.8E-05 | 0.700 | 1.000 | 3 | 2013 | 2014 | ||||
|
1 | 1.000 | 0.080 | 2 | 151646140 | frameshift variant | GATT/- | delins | 7.0E-06 | 0.700 | 1.000 | 3 | 2006 | 2016 | ||||
|
1 | 1.000 | 0.080 | 2 | 151658088 | frameshift variant | T/- | delins | 0.700 | 1.000 | 2 | 2006 | 2014 | |||||
|
2 | 0.925 | 0.080 | 2 | 151499299 | stop gained | G/A;T | snv | 7.3E-06; 3.6E-05 | 0.700 | 1.000 | 2 | 2014 | 2016 | ||||
|
1 | 1.000 | 0.080 | 2 | 151563623 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 2 | 2014 | 2015 | ||||
|
1 | 1.000 | 0.080 | 2 | 151519656 | splice donor variant | A/G | snv | 9.3E-05 | 9.1E-05 | 0.700 | 1.000 | 2 | 2014 | 2017 | |||
|
1 | 1.000 | 0.080 | 2 | 151679720 | splice donor variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 2 | 2006 | 2014 | ||||
|
1 | 1.000 | 0.080 | 2 | 151643269 | frameshift variant | CTCGTTTATTT/- | del | 0.700 | 1.000 | 2 | 2006 | 2014 | |||||
|
2 | 0.925 | 0.080 | 2 | 151494212 | frameshift variant | AG/- | del | 8.3E-06 | 1.4E-05 | 0.700 | 1.000 | 2 | 2014 | 2015 | |||
|
1 | 1.000 | 0.080 | 2 | 151497656 | frameshift variant | TTTC/-;TTTCTTTC | delins | 9.7E-06 | 4.2E-05 | 0.700 | 1.000 | 2 | 2014 | 2016 | |||
|
2 | 0.925 | 0.080 | 2 | 151525265 | stop gained | G/C;T | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2002 | 2006 | ||||
|
1 | 1.000 | 0.080 | 2 | 151562694 | stop gained | G/A | snv | 4.1E-06 | 0.700 | 1.000 | 2 | 2012 | 2014 | ||||
|
1 | 1.000 | 0.080 | 2 | 151496363 | splice acceptor variant | -/AACA;ACA | delins | 1.2E-05 | 0.700 | 1.000 | 2 | 2011 | 2014 | ||||
|
2 | 0.925 | 0.080 | 2 | 151496308 | stop gained | G/A;T | snv | 8.1E-06 | 2.1E-05 | 0.700 | 1.000 | 2 | 2014 | 2016 | |||
|
1 | 1.000 | 0.080 | 2 | 151640644 | frameshift variant | -/ATAG | delins | 7.0E-06 | 0.700 | 1.000 | 2 | 2006 | 2014 | ||||
|
3 | 0.882 | 0.280 | 2 | 151537898 | stop gained | G/A | snv | 3.2E-05 | 0.700 | 1.000 | 2 | 2014 | 2016 | ||||
|
1 | 1.000 | 0.080 | 2 | 151727689 | splice donor variant | A/G;T | snv | 4.0E-05 | 7.0E-06 | 0.700 | 1.000 | 2 | 2006 | 2015 | |||
|
1 | 1.000 | 0.080 | 2 | 151674475 | splice donor variant | AC/CA | mnv | 0.700 | 1.000 | 2 | 2006 | 2014 | |||||
|
1 | 1.000 | 0.080 | 2 | 151691859 | splice region variant | C/A;T | snv | 7.0E-06 | 0.700 | 1.000 | 2 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 2 | 151496992 | frameshift variant | GTAG/- | delins | 5.0E-06 | 1.4E-05 | 0.700 | 1.000 | 2 | 2014 | 2016 | |||
|
1 | 1.000 | 0.080 | 2 | 151650380 | splice acceptor variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2006 | 2006 |