| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 21702773 | stop gained | C/A;T | snv | 3.6E-05 |
|
0.700 | 1.000 | 2 | 2012 | 2015 | ||||||||||
|
3 | 180642072 | stop gained | G/A;T | snv | 7.6E-05; 8.1E-06 |
|
0.700 | 1.000 | 2 | 2013 | 2014 | ||||||||||
|
5 | 13922330 | splice acceptor variant | T/C | snv | 2.4E-05 |
|
0.700 | 1.000 | 2 | 2002 | 2006 | ||||||||||
|
17 | 80086207 | stop gained | C/G;T | snv | 8.8E-06 |
|
0.700 | 1.000 | 2 | 2011 | 2013 | ||||||||||
|
3 | 180644119 | splice donor variant | C/T | snv | 6.8E-06 |
|
0.700 | 1.000 | 2 | 2011 | 2013 | ||||||||||
|
5 | 13883096 | splice acceptor variant | T/G | snv |
|
0.700 | 1.000 | 2 | 2002 | 2006 | |||||||||||
|
7 | 756995 | splice donor variant | G/A;T | snv | 4.7E-05 |
|
0.700 | 1.000 | 2 | 2014 | 2014 | ||||||||||
|
5 | 13928180 | splice acceptor variant | T/C | snv | 4.0E-06 |
|
0.700 | 1.000 | 2 | 2002 | 2006 | ||||||||||
|
5 | 13708337 | splice acceptor variant | T/G | snv |
|
0.700 | 1.000 | 2 | 2002 | 2006 | |||||||||||
|
5 | 13700730 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
6 | 43645215 | stop gained | C/A | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
5 | 13769584 | frameshift variant | C/- | del | 8.0E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.925 | 0.160 | 2 | 26421396 | stop gained | C/A;T | snv | 3.9E-04 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
5 | 13794045 | frameshift variant | CTCT/- | delins | 8.0E-06 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
6 | 116617143 | frameshift variant | A/-;AA | delins |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
2 | 26450086 | splice donor variant | G/A;T | snv | 8.1E-05; 4.1E-06 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.925 | 0.160 | 21 | 32602299 | stop gained | G/A;C | snv | 4.0E-06; 8.0E-05 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.120 | 16 | 84159744 | stop gained | C/T | snv | 1.6E-05 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
6 | 116627775 | stop gained | G/A;T | snv | 4.0E-06; 8.0E-06 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.160 | 9 | 34513112 | missense variant | G/A;C;T | snv | 7.6E-05; 4.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
6 | 38926054 | splice acceptor variant | G/A;T | snv | 1.6E-05; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
1.000 | 0.120 | 17 | 80082020 | stop gained | C/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 7 | 780097 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.160 | 9 | 34517468 | splice donor variant | G/A | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
7 | 21616294 | splice donor variant | C/A;T | snv | 1.3E-04 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |