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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 13 | 77000594 | frameshift variant | GT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 77000605 | frameshift variant | CCTTTAAC/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 77000729 | frameshift variant | GGAA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 77000796 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 76995993 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 76992182 | stop gained | G/A;T | snv | 4.5E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 13 | 76995233 | splice region variant | G/C | snv | 1.2E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 13 | 76995119 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 77000771 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 77000813 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 77000817 | frameshift variant | TT/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 76992238 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 76995942 | frameshift variant | -/A | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 76995980 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 77000663 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 77000695 | frameshift variant | GGAAATGAAACATCTG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 77000680 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 13 | 77000850 | stop gained | C/G;T | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 13 | 77000685 | stop gained | G/C;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 76992175 | stop gained | G/A;C | snv | 2.2E-04 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 13 | 76992229 | frameshift variant | TC/- | delins | 9.5E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 13 | 76995077 | missense variant | G/A;C | snv | 8.0E-06 | 0.800 | 1.000 | 10 | 1998 | 2015 | ||||
|
2 | 0.925 | 0.120 | 13 | 77000580 | missense variant | G/A | snv | 8.0E-06 | 0.810 | 1.000 | 10 | 1998 | 2015 | ||||
|
2 | 0.925 | 0.120 | 13 | 76995990 | missense variant | A/G | snv | 0.800 | 1.000 | 10 | 1998 | 2015 | |||||
|
3 | 0.925 | 0.120 | 13 | 77000517 | missense variant | T/G | snv | 0.800 | 1.000 | 10 | 1998 | 2015 |