| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 3 | 52403415 | splice donor variant | C/- | delins | 0.700 | 1.000 | 3 | 2011 | 2016 | ||||||
|
1 | 1.000 | 3 | 52402608 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2008 | 2014 | |||||
|
6 | 0.827 | 0.200 | 3 | 52403428 | frameshift variant | G/- | delins | 0.700 | 1.000 | 3 | 2011 | 2015 | |||||
|
2 | 1.000 | 3 | 52409716 | frameshift variant | A/- | delins | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||||
|
1 | 1.000 | 3 | 52405296 | splice acceptor variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||||
|
1 | 1.000 | 3 | 52402787 | stop gained | T/A | snv | 0.700 | 1.000 | 2 | 2012 | 2015 | ||||||
|
1 | 1.000 | 3 | 52406908 | splice acceptor variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||||
|
1 | 1.000 | 3 | 52407398 | splice donor variant | C/A | snv | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||||
|
1 | 1.000 | 3 | 52403299 | splice acceptor variant | C/T | snv | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||||
|
1 | 1.000 | 3 | 52406378 | splice acceptor variant | T/C | snv | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||||
|
1 | 1.000 | 3 | 52408459 | splice donor variant | CAGAGTCCAGCAGACCT/- | del | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||||
|
1 | 1.000 | 3 | 52409841 | splice donor variant | C/A | snv | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||||
|
2 | 1.000 | 3 | 52406251 | splice donor variant | A/G | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
2 | 1.000 | 3 | 52406279 | stop gained | G/A;T | snv | 1.6E-05 | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||
|
1 | 1.000 | 3 | 52408551 | stop gained | G/A;T | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 3 | 52406896 | stop gained | C/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 3 | 52407243 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 3 | 52407210 | stop gained | C/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 52406844 | frameshift variant | C/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 52403729 | frameshift variant | C/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 52408607 | splice acceptor variant | C/G | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 52403193 | frameshift variant | T/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 52408548 | stop gained | T/A | snv | 0.700 | 0 | |||||||||
|
2 | 1.000 | 3 | 52408473 | splice donor variant | C/A;T | snv | 0.700 | 0 | |||||||||
|
7 | 0.851 | 0.080 | 3 | 52403251 | stop gained | G/A | snv | 0.700 | 0 |