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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.240 | 6 | 135433125 | missense variant | C/T | snv | 2.8E-05 | 2.8E-05 |
|
0.800 | 1.000 | 2 | 2004 | 2015 | |||||||
|
0.925 | 0.240 | 6 | 135457593 | missense variant | C/A;T | snv | 4.0E-05 |
|
0.800 | 1.000 | 1 | 2004 | 2015 | ||||||||
|
1.000 | 0.120 | 6 | 135438399 | missense variant | G/A | snv |
|
0.800 | 1.000 | 1 | 2004 | 2015 | |||||||||
|
1.000 | 0.120 | 6 | 135433137 | missense variant | T/C;G | snv |
|
0.800 | 1.000 | 1 | 2004 | 2015 | |||||||||
|
0.882 | 0.240 | 6 | 135427244 | missense variant | T/C | snv | 1.4E-05 |
|
0.800 | 1.000 | 1 | 2004 | 2015 | ||||||||
|
0.882 | 0.240 | 6 | 135455750 | missense variant | A/T | snv |
|
0.800 | 1.000 | 0 | 2004 | 2013 | |||||||||
|
0.925 | 0.160 | 6 | 135433119 | stop gained | C/T | snv | 1.6E-05 | 7.0E-06 |
|
0.700 | 1.000 | 4 | 2015 | 2017 | |||||||
|
0.925 | 0.240 | 6 | 135455811 | stop gained | G/A;C | snv | 6.5E-05; 4.3E-06 |
|
0.700 | 1.000 | 3 | 2006 | 2015 | ||||||||
|
1.000 | 0.120 | 6 | 135427226 | missense variant | A/T | snv | 4.1E-06 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.240 | 6 | 135448400 | stop gained | G/A;C;T | snv | 1.6E-05; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.240 | 6 | 135448400 | stop gained | G/A;C;T | snv | 1.6E-05; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.160 | 6 | 135433081 | stop gained | G/A | snv | 1.2E-05 | 2.8E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.120 | 6 | 135438435 | missense variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.120 | 6 | 135455928 | splice acceptor variant | T/C | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.120 | 6 | 135463146 | frameshift variant | TTT/-;TT;TTTT;TTTTT | delins |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.120 | 6 | 135433121 | frameshift variant | T/- | del | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.120 | 6 | 135438494 | stop gained | A/G;T | snv | 4.4E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.120 | 6 | 135438374 | splice donor variant | C/A | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.240 | 6 | 135455811 | stop gained | G/A;C | snv | 6.5E-05; 4.3E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.240 | 6 | 135455873 | frameshift variant | G/- | delins |
|
0.700 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
1.000 | 0.120 | 6 | 135428757 | stop gained | A/C | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.120 | 6 | 135442595 | frameshift variant | -/CC | delins |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.120 | 6 | 135457530 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.120 | 6 | 135433193 | frameshift variant | -/CA | delins | 4.0E-06 | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.120 | 6 | 135448289 | splice donor variant | C/T | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 |