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 | 0.200 | 13 | 32316463 | start lost | G/A;T | snv | 0.700 | 1.000 | 7 | 2008 | 2019 | |||||
|
10 | 0.763 | 0.320 | 13 | 32362596 | missense variant | A/G;T | snv | 0.700 | 1.000 | 7 | 2007 | 2015 | |||||
|
12 | 0.752 | 0.320 | 13 | 32394726 | stop gained | C/A;G | snv | 8.0E-06 | 0.700 | 1.000 | 7 | 1998 | 2016 | ||||
|
6 | 0.827 | 0.280 | 13 | 32333284 | frameshift variant | A/-;AA | delins | 0.700 | 1.000 | 7 | 1996 | 2012 | |||||
|
4 | 0.882 | 0.240 | 13 | 32336684 | frameshift variant | -/A | delins | 0.700 | 1.000 | 7 | 2003 | 2016 | |||||
|
4 | 0.882 | 0.200 | 13 | 32338634 | frameshift variant | T/-;TT | delins | 0.700 | 1.000 | 7 | 2001 | 2014 | |||||
|
3 | 0.925 | 0.200 | 13 | 32340203 | stop gained | AGTT/-;AGTTAGTT | delins | 7.0E-06 | 0.700 | 1.000 | 7 | 1998 | 2012 | ||||
|
4 | 0.882 | 0.200 | 13 | 32331004 | frameshift variant | TCAAA/- | delins | 8.0E-06 | 0.700 | 1.000 | 7 | 1996 | 2013 | ||||
|
2 | 1.000 | 13 | 32326240 | splice acceptor variant | A/C;G | snv | 0.700 | 1.000 | 7 | 2007 | 2016 | ||||||
|
3 | 0.925 | 0.200 | 13 | 32376795 | splice region variant | A/G;T | snv | 0.700 | 1.000 | 7 | 2006 | 2016 | |||||
|
5 | 0.851 | 0.200 | 13 | 32394803 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 6 | 2010 | 2019 | ||||
|
8 | 0.790 | 0.240 | 13 | 32380043 | missense variant | C/T | snv | 1.2E-05 | 0.700 | 1.000 | 6 | 2008 | 2015 | ||||
|
14 | 0.724 | 0.320 | 13 | 32339320 | stop gained | C/A;G;R | snv | 4.2E-06 | 0.700 | 1.000 | 6 | 2007 | 2014 | ||||
|
3 | 0.925 | 0.200 | 13 | 32340219 | stop gained | C/A;G;T | snv | 1.2E-05 | 0.700 | 1.000 | 6 | 2002 | 2016 | ||||
|
3 | 0.925 | 0.200 | 13 | 32354877 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 6 | 2002 | 2017 | ||||
|
4 | 0.882 | 0.200 | 13 | 32332779 | frameshift variant | AAGAAAGA/-;AAGA | delins | 4.1E-06 | 3.5E-05 | 0.700 | 1.000 | 6 | 1997 | 2012 | |||
|
3 | 0.925 | 0.200 | 13 | 32316485 | frameshift variant | C/- | delins | 0.700 | 1.000 | 6 | 1988 | 2012 | |||||
|
3 | 0.925 | 0.200 | 13 | 32337953 | frameshift variant | GT/- | delins | 0.700 | 1.000 | 6 | 2002 | 2015 | |||||
|
5 | 0.851 | 0.200 | 13 | 32338209 | frameshift variant | AAAA/-;A;AA;AAA;AAAAA | delins | 7.0E-06 | 0.700 | 1.000 | 6 | 2003 | 2016 | ||||
|
3 | 0.925 | 0.200 | 13 | 32338613 | frameshift variant | G/- | del | 8.2E-06 | 0.700 | 1.000 | 6 | 1997 | 2005 | ||||
|
3 | 0.925 | 0.200 | 13 | 32338982 | frameshift variant | A/-;AA | delins | 0.700 | 1.000 | 6 | 1999 | 2011 | |||||
|
3 | 0.925 | 0.200 | 13 | 32340035 | stop gained | -/A | delins | 0.700 | 1.000 | 6 | 2001 | 2012 | |||||
|
3 | 0.925 | 0.200 | 13 | 32340150 | frameshift variant | TA/- | delins | 0.700 | 1.000 | 6 | 2002 | 2015 | |||||
|
3 | 0.925 | 0.200 | 13 | 32340946 | frameshift variant | TG/- | del | 4.1E-06 | 0.700 | 1.000 | 6 | 2002 | 2013 | ||||
|
3 | 0.925 | 0.200 | 13 | 32326497 | splice acceptor variant | A/C;G | snv | 0.700 | 1.000 | 6 | 2003 | 2019 |