Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.160 | X | 33211304 | stop gained | C/T | snv |
|
0.710 | 1.000 | 3 | 2009 | 2017 | |||||||||
|
1.000 | 0.120 | X | 32448611 | stop gained | C/A | snv |
|
0.710 | 1.000 | 0 | 1997 | 1997 | |||||||||
|
1.000 | 0.040 | X | 32217062 | stop gained | G/A;C | snv |
|
0.700 | 1.000 | 11 | 1994 | 2015 | |||||||||
|
1.000 | 0.040 | X | 31206663 | stop gained | G/A | snv |
|
0.700 | 1.000 | 9 | 1998 | 2010 | |||||||||
|
0.882 | 0.160 | X | 31178721 | stop gained | G/A | snv |
|
0.700 | 1.000 | 9 | 1996 | 2017 | |||||||||
|
0.882 | 0.160 | X | 31178784 | stop gained | G/A | snv |
|
0.700 | 1.000 | 8 | 1992 | 2015 | |||||||||
|
0.925 | 0.160 | X | 31178751 | stop gained | G/A | snv |
|
0.700 | 1.000 | 8 | 1993 | 2009 | |||||||||
|
1.000 | 0.040 | X | 31627852 | stop gained | G/A;C | snv | 5.7E-06 |
|
0.700 | 1.000 | 8 | 2004 | 2015 | ||||||||
|
1.000 | 0.120 | X | 32454685 | stop gained | G/A | snv |
|
0.700 | 1.000 | 7 | 2008 | 2018 | |||||||||
|
0.882 | 0.160 | X | 31478330 | stop gained | G/A | snv |
|
0.700 | 1.000 | 6 | 1995 | 2015 | |||||||||
|
0.882 | 0.160 | X | 33211304 | stop gained | C/T | snv |
|
0.700 | 1.000 | 6 | 2003 | 2017 | |||||||||
|
1.000 | 0.040 | X | 32389644 | stop gained | G/A | snv |
|
0.700 | 1.000 | 6 | 1995 | 2017 | |||||||||
|
0.925 | 0.160 | X | 32365049 | stop gained | G/A;T | snv | 5.5E-06 |
|
0.700 | 1.000 | 6 | 2001 | 2011 | ||||||||
|
1.000 | 0.120 | X | 31323639 | stop gained | C/T | snv |
|
0.700 | 1.000 | 5 | 1999 | 2017 | |||||||||
|
0.925 | 0.160 | X | 31657989 | splice donor variant | C/T | snv |
|
0.700 | 1.000 | 5 | 2006 | 2017 | |||||||||
|
1.000 | 0.120 | X | 31679588 | splice acceptor variant | T/C | snv |
|
0.700 | 1.000 | 5 | 2006 | 2015 | |||||||||
|
1.000 | 0.040 | X | 31323597 | splice donor variant | C/T | snv |
|
0.700 | 1.000 | 5 | 2006 | 2014 | |||||||||
|
0.882 | 0.160 | X | 32573529 | splice donor variant | C/T | snv | 1.6E-05 | 2.8E-05 |
|
0.700 | 1.000 | 5 | 2007 | 2016 | |||||||
|
0.882 | 0.160 | X | 32573529 | splice donor variant | C/T | snv | 1.6E-05 | 2.8E-05 |
|
0.700 | 1.000 | 5 | 2007 | 2016 | |||||||
|
0.882 | 0.160 | X | 32573529 | splice donor variant | C/T | snv | 1.6E-05 | 2.8E-05 |
|
0.700 | 1.000 | 5 | 2007 | 2016 | |||||||
|
0.925 | 0.160 | X | 33211281 | splice donor variant | C/A;G | snv |
|
0.700 | 1.000 | 5 | 2002 | 2017 | |||||||||
|
1.000 | 0.040 | X | 32362826 | stop gained | G/A | snv |
|
0.700 | 1.000 | 5 | 2006 | 2013 | |||||||||
|
1.000 | 0.040 | X | 32809559 | stop gained | G/A | snv |
|
0.700 | 1.000 | 5 | 2001 | 2011 | |||||||||
|
0.925 | 0.160 | X | 31479043 | stop gained | G/A | snv |
|
0.700 | 1.000 | 5 | 2006 | 2011 | |||||||||
|
1.000 | 0.040 | X | 31223046 | splice donor variant | C/G;T | snv |
|
0.700 | 1.000 | 5 | 2006 | 2017 |