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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.807 | 0.320 | X | 77717155 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | X | 74529232 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 11 | 105926808 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.200 | 11 | 105926814 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 11 | 105926821 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 11 | 105926824 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 15 | 43753826 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.240 | 18 | 26862297 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 22 | 50720739 | frameshift variant | -/CCGTGGGCAGCCCCGG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 7 | 105102045 | frameshift variant | -/TA | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.200 | 22 | 42211545 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | X | 21426661 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
17 | 0.732 | 0.240 | X | 154030912 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | X | 153964702 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | 18 | 55350391 | frameshift variant | CTTT/- | delins | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.200 | X | 154031326 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
15 | 0.827 | 0.240 | 21 | 37486563 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 1.000 | 0.200 | 21 | 37486571 | frameshift variant | TGAG/GAA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 11 | 105933765 | missense variant | G/A;C | snv | 1.6E-05 | 4.9E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.240 | 1 | 42929736 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.280 | X | 135998095 | splice region variant | TTTTA/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 12 | 115969040 | frameshift variant | GCCAATAT/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 6 | 33446569 | splice region variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | X | 53199068 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 17 | 17795278 | frameshift variant | GGCAT/- | delins | 0.700 | 0 |