| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.120 | 1 | 45332440 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2005 | 2009 | ||||
|
1 | 1.000 | 0.120 | 1 | 45334513 | splice acceptor variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 2 | 2008 | 2011 | |||
|
1 | 1.000 | 0.120 | 1 | 45331801 | frameshift variant | GCTCCGAGGGAGGCAGGCACAGG/- | delins | 0.700 | 1.000 | 2 | 2001 | 2015 | |||||
|
2 | 1.000 | 0.120 | 1 | 45332689 | splice acceptor variant | T/C | snv | 0.700 | 1.000 | 2 | 2008 | 2011 | |||||
|
1 | 1.000 | 0.120 | 1 | 45332489 | splice acceptor variant | C/T | snv | 0.700 | 1.000 | 2 | 2008 | 2011 | |||||
|
2 | 1.000 | 0.120 | 1 | 45331660 | splice donor variant | C/A;T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 2 | 2008 | 2011 | |||
|
2 | 1.000 | 0.120 | 1 | 45332080 | stop gained | G/A | snv | 1.2E-05 | 0.700 | 1.000 | 2 | 2005 | 2014 | ||||
|
1 | 1.000 | 0.120 | 1 | 45333605 | splice acceptor variant | T/C | snv | 0.700 | 1.000 | 2 | 2008 | 2011 | |||||
|
2 | 1.000 | 0.120 | 1 | 45333452 | stop gained | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 2 | 2005 | 2015 | ||||
|
2 | 1.000 | 0.120 | 1 | 45332955 | stop gained | C/A;T | snv | 5.6E-05 | 2.1E-05 | 0.700 | 1.000 | 2 | 2015 | 2017 | |||
|
2 | 1.000 | 0.120 | 1 | 45332836 | splice acceptor variant | T/G | snv | 4.0E-06 | 3.5E-05 | 0.700 | 1.000 | 2 | 2008 | 2011 | |||
|
1 | 1.000 | 0.120 | 1 | 45332573 | splice donor variant | C/A | snv | 0.700 | 1.000 | 2 | 2008 | 2011 | |||||
|
2 | 1.000 | 0.120 | 1 | 45331302 | frameshift variant | T/- | del | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.120 | 1 | 45331454 | frameshift variant | GGCCCAGCCC/- | del | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.120 | 1 | 45333453 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.120 | 1 | 45333429 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.120 | 1 | 45332574 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
3 | 0.925 | 0.120 | 1 | 45331223 | stop gained | C/A;T | snv | 4.0E-06; 3.6E-05 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 1.000 | 0.120 | 1 | 45332678 | stop gained | C/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2005 | 2005 | |||
|
2 | 1.000 | 0.120 | 1 | 45332240 | frameshift variant | C/- | delins | 4.0E-06 | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.120 | 1 | 45331769 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.120 | 1 | 45332804 | frameshift variant | GCCAGCCCAG/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 1 | 45330558 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 45331476 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 45331800 | stop gained | C/T | snv | 0.700 | 0 |