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 | 0.120 | 19 | 17816972 | missense variant | G/A;C | snv | 3.5E-04; 4.0E-06 |
|
0.800 | 1.000 | 3 | 2000 | 2003 | ||||||||
|
1.000 | 0.120 | 19 | 17816946 | missense variant | G/A | snv | 4.0E-06 | 2.1E-05 |
|
0.800 | 1.000 | 3 | 2000 | 2003 | |||||||
|
1.000 | 0.120 | 19 | 17816920 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 |
|
0.800 | 1.000 | 3 | 2000 | 2003 | ||||||||
|
1.000 | 0.120 | 13 | 31777398 | missense variant | A/C;G | snv | 4.6E-03; 4.0E-06 |
|
0.740 | 0.800 | 5 | 2002 | 2011 | ||||||||
|
1.000 | 0.120 | 19 | 17816945 | missense variant | C/T | snv | 6.9E-04 | 2.7E-04 |
|
0.710 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.662 | 0.440 | 12 | 112450368 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 1.000 | 4 | 2001 | 2012 | |||||||
|
0.882 | 0.320 | 18 | 55228877 | missense variant | C/A | snv |
|
0.700 | 1.000 | 2 | 2011 | 2014 | |||||||||
|
0.807 | 0.400 | 10 | 75025250 | splice donor variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.724 | 0.440 | 9 | 130872961 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.240 | 18 | 2674018 | missense variant | T/G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.160 | 12 | 49090416 | missense variant | C/T | snv | 4.3E-06 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.280 | 11 | 1443490 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.807 | 0.160 | 12 | 49091165 | stop gained | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.807 | 0.280 | 5 | 36984990 | frameshift variant | CT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.280 | 16 | 89281225 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.320 | 12 | 112489080 | missense variant | T/A;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | 12 | 112477651 | missense variant | T/A;C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.400 | X | 77520832 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.400 | 16 | 3026140 | missense variant | T/A | snv | 1.7E-04 | 2.0E-04 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.280 | 16 | 8811099 | stop gained | G/A;T | snv | 1.1E-04; 5.2E-06 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.280 | 13 | 38691375 | missense variant | G/A;T | snv | 3.5E-03 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 2 | 31580683 | frameshift variant | A/- | del |
|
0.700 | 0 |