| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.120 | 3 | 47846757 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 10 | 71617295 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 13 | 20189487 | missense variant | C/A;T | snv | 3.2E-05; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 7 | 107690203 | missense variant | C/G;T | snv | 4.0E-06; 1.8E-04 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 13 | 20189256 | frameshift variant | CTTGATGAACTTCC/- | delins | 1.5E-04 |
|
0.700 | 0 | |||||||||||
|
0.763 | 0.280 | 13 | 20188965 | missense variant | T/C | snv | 9.6E-05 | 1.8E-04 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 13 | 20189217 | missense variant | T/A;G | snv | 6.0E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 13 | 20189413 | stop gained | G/A | snv | 2.8E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.763 | 0.280 | 13 | 20189299 | missense variant | C/T | snv | 4.8E-05 | 7.7E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 7 | 107690200 | missense variant | G/A;C | snv | 1.0E-04; 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 7 | 107698112 | splice donor variant | G/A;C;T | snv | 1.6E-05; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 7 | 107683453 | splice acceptor variant | A/G | snv | 3.6E-04 | 1.7E-04 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 7 | 107702050 | missense variant | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 13 | 20188982 | stop gained | TCCAGACAC/GAATGTCATGAACACTG | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.200 | 1 | 215728232 | stop gained | C/T | snv | 9.2E-05 | 1.2E-04 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 7 | 107674337 | stop gained | G/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.160 | X | 19353124 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 8 | 143818426 | inframe deletion | GGGCAAAGG/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 9 | 137199553 | stop gained | C/A;G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 2 | 26460027 | stop lost | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 17 | 18135798 | stop gained | C/T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.240 | 10 | 71570884 | missense variant | C/T | snv | 4.0E-05 | 7.0E-06 |
|
0.710 | 1.000 | 0 | 2015 | 2015 | |||||||
|
0.882 | 0.280 | 7 | 107710132 | missense variant | A/G | snv | 1.2E-04 | 3.5E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 7 | 107710126 | missense variant | C/T | snv | 5.2E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 7 | 107689166 | missense variant | C/T | snv |
|
0.700 | 0 |