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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.160 | 2 | 47475130 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 13 | 1993 | 2014 | |||||
|
4 | 0.925 | 0.160 | 2 | 47416351 | missense variant | G/A | snv | 0.700 | 1.000 | 12 | 2003 | 2017 | |||||
|
4 | 0.925 | 0.160 | 2 | 47471007 | frameshift variant | GA/-;GAGA | delins | 0.700 | 1.000 | 10 | 2002 | 2013 | |||||
|
4 | 0.925 | 0.160 | 2 | 47480866 | frameshift variant | AG/- | delins | 0.700 | 1.000 | 9 | 1995 | 2016 | |||||
|
5 | 0.882 | 0.200 | 2 | 47416399 | missense variant | C/G;T | snv | 0.700 | 1.000 | 8 | 2004 | 2016 | |||||
|
6 | 0.851 | 0.240 | 2 | 47429812 | stop gained | C/T | snv | 0.700 | 1.000 | 8 | 1995 | 2015 | |||||
|
5 | 0.882 | 0.200 | 2 | 47429891 | frameshift variant | AG/- | del | 0.700 | 1.000 | 8 | 1996 | 2016 | |||||
|
6 | 0.851 | 0.240 | 2 | 47475126 | stop gained | C/G;T | snv | 0.700 | 1.000 | 8 | 1996 | 2014 | |||||
|
6 | 0.851 | 0.240 | 2 | 47476492 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 8 | 2001 | 2008 | ||||
|
4 | 0.925 | 0.160 | 2 | 47466809 | splice donor variant | G/A;T | snv | 0.700 | 1.000 | 7 | 2003 | 2014 | |||||
|
3 | 1.000 | 0.160 | 2 | 47412449 | frameshift variant | AA/-;A;AAA | delins | 0.700 | 1.000 | 7 | 1995 | 2014 | |||||
|
6 | 0.925 | 0.160 | 2 | 47410211 | missense variant | G/A | snv | 0.700 | 1.000 | 7 | 2002 | 2014 | |||||
|
5 | 0.882 | 0.160 | 2 | 47414368 | stop gained | C/T | snv | 0.700 | 1.000 | 7 | 1999 | 2017 | |||||
|
6 | 0.851 | 0.240 | 2 | 47416430 | splice donor variant | G/A;T | snv | 0.700 | 1.000 | 6 | 1999 | 2017 | |||||
|
3 | 1.000 | 0.160 | 2 | 47429942 | splice donor variant | G/A;C;T | snv | 0.700 | 1.000 | 6 | 1998 | 2014 | |||||
|
3 | 1.000 | 0.160 | 2 | 47476572 | splice donor variant | G/A;C | snv | 0.700 | 1.000 | 6 | 2002 | 2014 | |||||
|
5 | 0.882 | 0.200 | 2 | 47429830 | stop gained | C/T | snv | 0.700 | 1.000 | 6 | 1999 | 2014 | |||||
|
4 | 0.925 | 0.160 | 2 | 47476513 | stop gained | C/G;T | snv | 0.700 | 1.000 | 6 | 2000 | 2016 | |||||
|
3 | 1.000 | 0.160 | 2 | 47410295 | inframe deletion | CTC/- | delins | 0.700 | 1.000 | 6 | 2008 | 2016 | |||||
|
8 | 0.882 | 0.200 | 2 | 47476424 | missense variant | T/G | snv | 0.700 | 1.000 | 6 | 1999 | 2012 | |||||
|
4 | 0.925 | 0.160 | 2 | 47476435 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 6 | 2003 | 2017 | |||||
|
3 | 1.000 | 0.160 | 2 | 47482805 | frameshift variant | C/- | delins | 0.700 | 1.000 | 6 | 1996 | 2012 | |||||
|
3 | 1.000 | 0.160 | 2 | 47471062 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 6 | 2008 | 2016 | |||||
|
4 | 0.925 | 0.160 | 2 | 47410287 | missense variant | T/C;G | snv | 0.700 | 1.000 | 6 | 2000 | 2016 | |||||
|
3 | 1.000 | 0.160 | 2 | 47416295 | splice acceptor variant | G/A;C;T | snv | 0.700 | 1.000 | 5 | 2000 | 2016 |