| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 161973326 | missense variant | G/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
5 | 112767315 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
7 | 16794973 | missense variant | A/G;T | snv | 0.43 | 0.38 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
4 | 99613118 | missense variant | T/C;G | snv | 1.2E-05; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
17 | 7675224 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
5 | 112839714 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||||
|
0.925 | 0.080 | 1 | 193125142 | stop gained | C/G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.080 | 2 | 215409981 | missense variant | A/T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.882 | 0.080 | 6 | 151944218 | missense variant | G/A;C | snv | 4.0E-05 | 4.9E-05 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.882 | 0.080 | 6 | 151944320 | missense variant | A/G | snv |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | |||||||||
|
0.925 | 0.120 | 11 | 1759567 | missense variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.776 | 0.120 | 11 | 533873 | missense variant | CT/AC;TC | mnv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.120 | 3 | 9765892 | splice acceptor variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
1.000 | 0.120 | 12 | 123389469 | missense variant | C/T | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.120 | 7 | 142750561 | missense variant | C/T | snv | 9.0E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 7 | 6002584 | start lost | T/A;C | snv |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||||
|
0.925 | 0.120 | 17 | 39724861 | missense variant | G/A | snv | 1.2E-03 | 2.6E-04 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.776 | 0.120 | 7 | 87591570 | intron variant | A/G | snv | 0.50 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
0.827 | 0.120 | 5 | 1294051 | missense variant | C/T | snv | 2.2E-02 | 2.2E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.120 | 2 | 47403390 | start lost | A/G | snv | 7.0E-06 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.120 | 3 | 9765885 | splice acceptor variant | -/C | delins |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
1.000 | 0.120 | 3 | 37001037 | start lost | A/G | snv | 2.4E-04 | 3.5E-05 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.120 | 7 | 5992027 | missense variant | T/A;C | snv | 4.0E-06 | 1.4E-05 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.120 | 3 | 36993593 | frameshift variant | TGAACCG/- | delins |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.752 | 0.160 | 15 | 90088605 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 |