| 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 | 1 | 151408151 | frameshift variant | AGAG/- | delins | 0.700 | 1.000 | 2 | 2015 | 2016 | |||||
|
1 | 1.000 | 0.160 | 1 | 151406271 | frameshift variant | -/G | delins | 0.700 | 1.000 | 2 | 2015 | 2016 | |||||
|
1 | 1.000 | 0.160 | 1 | 151428149 | stop gained | G/C | snv | 0.700 | 1.000 | 2 | 2015 | 2016 | |||||
|
2 | 0.925 | 0.160 | 1 | 151406100 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 2015 | 2016 | |||||
|
1 | 1.000 | 0.160 | 1 | 151406254 | frameshift variant | -/A | delins | 0.700 | 1.000 | 2 | 2015 | 2016 | |||||
|
2 | 1.000 | 0.160 | 1 | 151412348 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 1 | 151412327 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 1 | 151411741 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 1 | 151405828 | frameshift variant | TA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 1 | 151406388 | frameshift variant | GT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 1 | 151406431 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 1 | 151406229 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 1 | 151411688 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 1 | 151406445 | stop gained | G/A;T | snv | 5.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 1 | 151405681 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 1 | 151406324 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 1 | 151406034 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 1 | 151405188 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 1 | 151424194 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 1 | 151405578 | frameshift variant | CT/- | del | 0.700 | 0 |