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 | 1 | 160128767 | missense variant | C/A;T | snv |
|
0.800 | 1.000 | 0 | 2004 | 2004 | ||||||||||
|
0.851 | 0.280 | 1 | 160127638 | frameshift variant | C/- | del |
|
0.700 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
0.851 | 0.280 | 1 | 160135284 | frameshift variant | GT/- | delins |
|
0.700 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
1.000 | 0.080 | 1 | 160123327 | frameshift variant | -/TC | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 1 | 160139668 | stop gained | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.280 | 1 | 160127638 | frameshift variant | C/- | del |
|
0.700 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
0.851 | 0.280 | 1 | 160135284 | frameshift variant | GT/- | delins |
|
0.700 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
1.000 | 0.040 | 1 | 160136570 | missense variant | G/A | snv |
|
0.700 | 1.000 | 3 | 2009 | 2014 | |||||||||
|
1.000 | 0.040 | 1 | 160136370 | missense variant | G/A | snv |
|
0.700 | 1.000 | 2 | 2009 | 2014 | |||||||||
|
0.882 | 0.040 | 1 | 160135461 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.040 | 1 | 160129024 | stop gained | C/T | snv | 4.1E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.040 | 1 | 160139735 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 1 | 160139675 | missense variant | C/T | snv | 4.0E-06 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 1 | 160135988 | missense variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 1 | 160137001 | missense variant | G/A | snv |
|
0.700 | 1.000 | 4 | 2008 | 2017 | |||||||||
|
0.851 | 0.280 | 1 | 160127638 | frameshift variant | C/- | del |
|
0.700 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
0.851 | 0.280 | 1 | 160135284 | frameshift variant | GT/- | delins |
|
0.700 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
0.851 | 0.280 | 1 | 160127638 | frameshift variant | C/- | del |
|
0.700 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
0.851 | 0.280 | 1 | 160135284 | frameshift variant | GT/- | delins |
|
0.700 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
0.882 | 0.080 | 1 | 160130283 | missense variant | G/A | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 1 | 160127704 | missense variant | G/A | snv |
|
0.720 | 1.000 | 0 | 2004 | 2018 | |||||||||
|
0.925 | 0.080 | 1 | 160128667 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 1 | 160135470 | missense variant | G/A | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 1 | 160139735 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 1 | 160127660 | missense variant | T/C | snv | 7.0E-06 |
|
0.700 | 0 |