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 | 0.080 | 1 | 97098501 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 97699508 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 97515795 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 97373616 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 97691715 | splice donor variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 97193068 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 97549559 | splice donor variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 97573788 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 97098507 | frameshift variant | C/- | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 97193137 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 97193101 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 97373579 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 97883280 | frameshift variant | GGATTTCT/- | del | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 97699373 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 97679184 | splice acceptor variant | T/C | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 97573921 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 97593225 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 97098533 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 97828113 | splice donor variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 97306176 | splice region variant | CCTT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 97306178 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 97098598 | missense variant | C/T | snv | 4.4E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 97828127 | stop gained | G/A | snv | 1.3E-04 | 6.3E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 97305283 | stop gained | G/A | snv | 2.8E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 97515739 | frameshift variant | A/- | delins | 0.700 | 0 |