| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 17 | 39724744 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 5 | 112838953 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.120 | 1 | 45333171 | splice acceptor variant | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.120 | 5 | 112792494 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 3 | 179234358 | frameshift variant | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 1 | 45334493 | stop gained | G/A;C | snv | 8.0E-06; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.120 | 5 | 112780895 | stop gained | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 1 | 45331558 | splice acceptor variant | T/C | snv | 2.4E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.120 | 5 | 112792446 | stop gained | C/G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.200 | 5 | 112815507 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.120 | 5 | 112819347 | splice region variant | A/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 5 | 112815594 | splice donor variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 12 | 56088138 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 |
|
0.700 | 1.000 | 23 | 2002 | 2014 | |||||||
|
3 | 41224630 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||||
|
0.708 | 0.320 | 1 | 114716124 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.742 | 0.200 | 3 | 41224621 | missense variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.710 | 1.000 | 0 | 2015 | 2015 |