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 | 0.240 | 11 | 118478096 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2015 | 2017 | |||||
|
1 | 1.000 | 0.240 | 11 | 118495830 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.240 | 11 | 118499835 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 11 | 118490250 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.240 | 11 | 118499340 | frameshift variant | TTGT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 11 | 118488648 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 11 | 118478105 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | 11 | 118504037 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.240 | 11 | 118476983 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 11 | 118471761 | frameshift variant | -/T | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 11 | 118472197 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 11 | 118474055 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
12 | 0.776 | 0.400 | 11 | 118477973 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
37 | 0.701 | 0.480 | 11 | 118478153 | stop gained | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 11 | 118478198 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
9 | 0.851 | 0.240 | 11 | 118496323 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 11 | 118499919 | splice region variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 11 | 118503330 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 11 | 118504435 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 11 | 118510119 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 11 | 118481820 | frameshift variant | CA/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 11 | 118504159 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 11 | 118510077 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 11 | 118503036 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.240 | 11 | 118504691 | frameshift variant | GTCT/- | delins | 0.700 | 0 |