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 | 0.160 | 3 | 14158882 | missense variant | G/A;T | snv | 8.1E-06; 2.6E-03 | 0.710 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.160 | 3 | 14158148 | stop gained | G/A | snv | 1.2E-05 | 0.700 | 1.000 | 4 | 2000 | 2015 | ||||
|
2 | 0.925 | 0.160 | 3 | 14158239 | frameshift variant | CA/- | delins | 2.0E-05 | 3.5E-05 | 0.700 | 1.000 | 4 | 2008 | 2010 | |||
|
1 | 1.000 | 0.160 | 3 | 14165549 | stop gained | G/A | snv | 2.0E-05 | 1.4E-05 | 0.700 | 1.000 | 3 | 2000 | 2015 | |||
|
2 | 0.925 | 0.160 | 3 | 14167223 | frameshift variant | AT/- | delins | 2.4E-05 | 2.1E-05 | 0.700 | 1.000 | 3 | 2000 | 2006 | |||
|
1 | 1.000 | 0.160 | 3 | 14148912 | stop gained | G/A | snv | 0.700 | 1.000 | 3 | 2000 | 2015 | |||||
|
2 | 0.925 | 0.160 | 3 | 14158640 | stop gained | G/A | snv | 1.2E-05 | 4.9E-05 | 0.700 | 1.000 | 3 | 2010 | 2016 | |||
|
1 | 1.000 | 0.160 | 3 | 14168370 | frameshift variant | CACT/- | delins | 0.700 | 1.000 | 2 | 2006 | 2016 | |||||
|
1 | 1.000 | 0.160 | 3 | 14168347 | frameshift variant | TC/- | delins | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 2 | 2007 | 2016 | |||
|
1 | 1.000 | 0.160 | 3 | 14148695 | frameshift variant | G/- | delins | 0.700 | 1.000 | 2 | 2010 | 2015 | |||||
|
1 | 1.000 | 0.160 | 3 | 14165587 | splice acceptor variant | T/C;G | snv | 4.0E-06; 1.2E-05 | 0.700 | 1.000 | 2 | 2006 | 2007 | ||||
|
1 | 1.000 | 0.160 | 3 | 14164836 | stop gained | G/A;T | snv | 1.6E-05; 1.6E-05 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||
|
2 | 0.925 | 0.160 | 3 | 14152376 | stop gained | T/A | snv | 3.5E-05 | 0.700 | 1.000 | 2 | 2006 | 2013 | ||||
|
1 | 1.000 | 0.160 | 3 | 14158319 | stop gained | T/A;C | snv | 0.700 | 1.000 | 2 | 2006 | 2015 | |||||
|
1 | 1.000 | 0.160 | 3 | 14158206 | stop gained | G/A;C;T | snv | 1.2E-05; 4.0E-06 | 0.700 | 1.000 | 2 | 2013 | 2015 | ||||
|
1 | 1.000 | 0.160 | 3 | 14158590 | frameshift variant | TT/- | delins | 0.700 | 1.000 | 2 | 2006 | 2016 | |||||
|
1 | 1.000 | 0.160 | 3 | 14170507 | frameshift variant | CT/- | delins | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.160 | 3 | 14173038 | frameshift variant | G/- | delins | 1.4E-05 | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||
|
1 | 1.000 | 0.160 | 3 | 14158779 | frameshift variant | TT/- | del | 2.1E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.160 | 3 | 14158461 | frameshift variant | -/T | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.160 | 3 | 14148732 | splice acceptor variant | C/G;T | snv | 2.4E-05 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.160 | 3 | 14178568 | start lost | T/A;C | snv | 4.0E-06; 5.2E-05 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.160 | 3 | 14165468 | stop gained | G/A | snv | 1.4E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.160 | 3 | 14165427 | splice donor variant | C/A;T | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.160 | 3 | 14170440 | frameshift variant | -/C | delins | 4.0E-06 | 0.700 | 0 |