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 | 0.080 | 2 | 151527528 | stop gained | G/A | snv | 8.1E-06 | 0.700 | 1.000 | 4 | 2002 | 2015 | ||||
|
1 | 1.000 | 0.080 | 2 | 151491697 | stop gained | A/C | snv | 4.5E-06 | 0.700 | 1.000 | 4 | 2002 | 2015 | ||||
|
1 | 1.000 | 0.080 | 1 | 229432619 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.080 | 2 | 151679718 | splice donor variant | TACGTCA/- | del | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 1 | 229432788 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.080 | 1 | 229432787 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.080 | 15 | 63061774 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 1 | 229432087 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 2 | 151717504 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 151545911 | stop gained | C/A | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 2 | 151499299 | stop gained | G/A;T | snv | 7.3E-06; 3.6E-05 | 0.700 | 1.000 | 4 | 2004 | 2016 | ||||
|
2 | 0.925 | 0.080 | 2 | 151561212 | missense variant | C/A;T | snv | 5.9E-05; 8.4E-06 | 0.700 | 1.000 | 4 | 2006 | 2016 | ||||
|
2 | 0.925 | 0.080 | 2 | 151525265 | stop gained | G/C;T | snv | 8.0E-06 | 0.700 | 1.000 | 3 | 2002 | 2006 | ||||
|
2 | 0.925 | 0.080 | 2 | 151497028 | splice acceptor variant | -/AACA;ACA | delins | 0.700 | 1.000 | 2 | 2014 | 2015 | |||||
|
2 | 0.925 | 0.080 | 2 | 151684829 | frameshift variant | A/- | del | 7.0E-06 | 0.700 | 1.000 | 2 | 2006 | 2016 | ||||
|
2 | 0.925 | 0.080 | 1 | 229432660 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 2 | 151496977 | frameshift variant | -/ATCT | delins | 4.9E-06; 4.9E-06 | 1.4E-05 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.080 | 15 | 65078037 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
2 | 0.925 | 0.280 | 7 | 5529175 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.080 | 2 | 151494212 | frameshift variant | AG/- | del | 8.3E-06 | 1.4E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.080 | 2 | 151519759 | stop gained | G/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.080 | 2 | 151729614 | splice donor variant | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 2 | 151674476 | splice donor variant | C/A;T | snv | 1.6E-05; 8.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 2 | 169510415 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 151496308 | stop gained | G/A;T | snv | 8.1E-06 | 2.1E-05 | 0.700 | 0 |