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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 2 | 165377645 | stop gained | C/G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||
|
2 | 0.925 | 0.080 | 2 | 165308794 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.080 | 2 | 165344558 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 2 | 165373330 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 2 | 165388685 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.040 | 2 | 165386837 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 2 | 165344679 | missense variant | C/T | snv | 0.800 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 2 | 165374743 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 2 | 165310376 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 165388682 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 165377611 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 165381148 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 165388930 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 2 | 165309193 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 165309431 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 165313919 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 165314067 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 165315616 | frameshift variant | AGAA/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 165315687 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 165354306 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 165389037 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 165389112 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 165389122 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 165309404 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 165310586 | splice donor variant | AGGATAAAAG/- | delins | 0.700 | 0 |