| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.040 | 5 | 150256777 | missense variant | C/G;T | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 5 | 150250270 | missense variant | T/G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.040 | 5 | 150250281 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.040 | 5 | 150251979 | splice donor variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.040 | 5 | 150252032 | missense variant | T/A | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.040 | 5 | 150256811 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.040 | 5 | 150273157 | splice acceptor variant | C/- | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.040 | 7 | 44241784 | splice acceptor variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.040 | 7 | 44242328 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.040 | 5 | 150251808 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 16 | 70482809 | stop gained | C/A | snv | 5.6E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 19 | 38499718 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 14 | 102012450 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 9 | 110800743 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 16 | 70481397 | missense variant | G/A | snv | 2.4E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 19 | 38469119 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.120 | 14 | 77026534 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | X | 154032206 | splice donor variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.120 | X | 154030621 | splice acceptor variant | TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 9 | 110785664 | missense variant | T/A;C | snv | 4.0E-06; 1.6E-05 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.120 | 1 | 29200513 | splice donor variant | -/A | delins | 1.4E-04 | 6.3E-05 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.160 | 7 | 44243526 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.160 | 11 | 1442607 | splice donor variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.790 | 0.160 | 18 | 10714931 | splice acceptor variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.160 | 18 | 10795003 | splice acceptor variant | C/T | snv |
|
0.700 | 0 |