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 | 0.160 | 2 | 219421494 | missense variant | A/G;T | snv | 1.2E-05 | 0.800 | 1.000 | 20 | 1998 | 2017 | ||||
|
1 | 1.000 | 0.160 | 2 | 219421482 | missense variant | A/C | snv | 0.810 | 1.000 | 20 | 1998 | 2017 | |||||
|
1 | 1.000 | 0.160 | 2 | 219425732 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1998 | 2017 | |||||
|
1 | 1.000 | 0.160 | 2 | 219425956 | missense variant | G/T | snv | 0.700 | 1.000 | 20 | 1998 | 2017 | |||||
|
1 | 1.000 | 0.160 | 2 | 219421517 | missense variant | G/A | snv | 0.700 | 1.000 | 20 | 1998 | 2017 | |||||
|
2 | 0.925 | 0.160 | 2 | 219418508 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 20 | 1998 | 2017 | ||||
|
1 | 1.000 | 0.160 | 2 | 219420158 | splice region variant | AG/- | delins | 0.700 | 1.000 | 1 | 1998 | 1998 | |||||
|
1 | 1.000 | 0.160 | 2 | 219418463 | start lost | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 219418856 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 219421359 | missense variant | A/C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 2 | 219418792 | inframe deletion | GCAGGAGCT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 219421467 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
10 | 1.000 | 0.160 | 2 | 219423784 | frameshift variant | CCCATCCAGACCTACTC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 219418976 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 219425661 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 219421410 | inframe deletion | ACA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 219421425 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 2 | 219418977 | inframe deletion | CGCGCGTCGACGTCGAGCGCG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 219418599 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 219425746 | splice donor variant | G/A;C | snv | 3.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 2 | 219418835 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 219421529 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 219418482 | missense variant | C/T | snv | 0.700 | 0 |