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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.200 | 2 | 218662894 | missense variant | T/A | snv |
|
0.800 | 1.000 | 2 | 2007 | 2013 | |||||||||
|
1.000 | 0.200 | 2 | 218661425 | missense variant | C/T | snv | 8.4E-05; 4.0E-06 | 4.9E-05 |
|
0.700 | 1.000 | 2 | 2007 | 2013 | |||||||
|
1.000 | 0.240 | 2 | 218662963 | frameshift variant | -/C | delins |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.925 | 0.040 | 2 | 218661845 | missense variant | C/T | snv | 1.2E-05 | 7.7E-05 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.240 | 2 | 218661308 | splice donor variant | G/C;T | snv | 4.0E-06; 1.2E-05 |
|
0.700 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
1.000 | 0.240 | 2 | 218662608 | frameshift variant | C/-;CC | delins | 8.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 2 | 218661896 | stop gained | C/T | snv | 4.0E-06 | 3.5E-05 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.240 | 2 | 218661854 | stop gained | C/T | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.240 | 2 | 218661904 | frameshift variant | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.240 | 2 | 218662680 | splice donor variant | G/A;T | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.240 | 2 | 218663369 | frameshift variant | AG/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.240 | 2 | 218661954 | splice donor variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.240 | 2 | 218661547 | splice donor variant | T/C | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.240 | 2 | 218661501 | frameshift variant | C/- | delins | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 2 | 218661470 | missense variant | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
0.882 | 0.280 | 2 | 218661283 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.360 | 2 | 218661153 | stop gained | C/T | snv | 1.7E-04 | 2.9E-04 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.360 | 2 | 218661153 | stop gained | C/T | snv | 1.7E-04 | 2.9E-04 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.360 | 2 | 218661153 | stop gained | C/T | snv | 1.7E-04 | 2.9E-04 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.200 | 2 | 218661848 | missense variant | C/T | snv | 1.8E-04 | 1.0E-04 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.200 | 2 | 218661090 | missense variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.240 | 2 | 218662561 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.240 | 2 | 218661040 | frameshift variant | C/- | del |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.240 | 2 | 218661456 | frameshift variant | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.240 | 2 | 218661546 | splice donor variant | G/A | snv |
|
0.700 | 0 |