Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
67 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 0.807 | 0.120 | 1 | 29200513 | splice donor variant | -/A | delins | 1.4E-04 | 6.3E-05 | 0.700 | 0 | ||||||
|
7 | 0.851 | 0.280 | 2 | 1484815 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
23 | 0.742 | 0.320 | 2 | 165310413 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
33 | 0.742 | 0.320 | 2 | 178589003 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
33 | 0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins | 0.700 | 0 | ||||||||
|
8 | 0.882 | 0.160 | 2 | 178535594 | frameshift variant | -/GT | delins | 0.700 | 0 | ||||||||
|
14 | 0.827 | 0.200 | 3 | 113795101 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
28 | 0.752 | 0.320 | 4 | 79984831 | frameshift variant | -/G;GG | delins | 1.7E-05 | 0.700 | 0 | |||||||
|
9 | 0.882 | 0.040 | 5 | 150256777 | missense variant | C/G;T | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.882 | 0.040 | 5 | 150250270 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.882 | 0.040 | 5 | 150250281 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.925 | 0.040 | 5 | 150251979 | splice donor variant | -/A | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
6 | 0.882 | 0.040 | 5 | 150252032 | missense variant | T/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
9 | 0.882 | 0.040 | 5 | 150256811 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.925 | 0.040 | 5 | 150273157 | splice acceptor variant | C/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
12 | 0.882 | 0.040 | 5 | 150251808 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
42 | 0.708 | 0.360 | 5 | 140114480 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
20 | 0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.925 | 0.040 | 7 | 44241784 | splice acceptor variant | C/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
12 | 0.882 | 0.040 | 7 | 44242328 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
27 | 0.807 | 0.160 | 7 | 44243526 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 1.000 | 0.040 | 9 | 110800743 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.120 | 9 | 110785664 | missense variant | T/A;C | snv | 4.0E-06; 1.6E-05 | 0.700 | 0 | |||||||
|
25 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 0.700 | 0 |