| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.100 | 0.970 | 67 | 1999 | 2020 | ||||||||
|
0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.760 | 0.857 | 6 | 1999 | 2019 | ||||||||
|
0.763 | 0.240 | 3 | 41224645 | missense variant | T/C;G | snv |
|
0.050 | 1.000 | 5 | 1999 | 2019 | |||||||||
|
1.000 | 0.040 | 19 | 1219352 | missense variant | G/C;T | snv |
|
0.020 | 1.000 | 2 | 1999 | 2019 | |||||||||
|
0.695 | 0.280 | 4 | 54733166 | missense variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
1.000 | 0.120 | 11 | 64808031 | missense variant | C/A | snv |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
0.763 | 0.240 | 3 | 41224634 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
0.677 | 0.320 | 4 | 54733154 | missense variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
1.000 | 0.040 | 19 | 1207058 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
1.000 | 0.120 | 12 | 51920826 | missense variant | C/T | snv | 1.6E-03 | 2.0E-03 |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||
|
1 | 155209072 | missense variant | G/T | snv |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||||||
|
7 | 100855831 | frameshift variant | G/- | delins |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||||||
|
1.000 | 0.080 | 3 | 189808322 | missense variant | G/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 1999 | 1999 | ||||||||
|
1.000 | 0.120 | 1 | 58576648 | stop gained | G/T | snv |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
11 | 64809818 | stop gained | G/A | snv |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||||||
|
0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 |
|
0.080 | 1.000 | 8 | 2000 | 2019 | ||||||||
|
0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.780 | 0.909 | 8 | 2000 | 2019 | ||||||||
|
0.716 | 0.320 | 2 | 31580756 | missense variant | C/T | snv | 1.8E-02 | 2.1E-02 |
|
0.030 | 0.667 | 3 | 2000 | 2008 | |||||||
|
0.882 | 0.080 | 19 | 50856335 | missense variant | G/A | snv | 4.0E-05 | 2.3E-04 |
|
0.020 | 1.000 | 2 | 2000 | 2008 | |||||||
|
1.000 | 0.080 | 8 | 104014523 | missense variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
0.925 | 0.120 | 21 | 31266532 | synonymous variant | C/T | snv | 4.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
0.925 | 0.080 | 3 | 20119604 | missense variant | A/C;G | snv | 4.0E-06; 3.3E-02 |
|
0.010 | < 0.001 | 1 | 2000 | 2000 | ||||||||
|
0.807 | 0.080 | 12 | 68839587 | missense variant | A/G | snv | 1.5E-04 | 5.1E-04 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
0.882 | 0.080 | 4 | 85931021 | missense variant | C/T | snv | 2.0E-05 | 3.5E-05 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
0.689 | 0.440 | 2 | 31580636 | missense variant | G/A;C;T | snv | 0.66; 4.9E-06 |
|
0.010 | 1.000 | 1 | 2000 | 2000 |