Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
22 | 41117361 | frameshift variant | C/- | delins |
|
0.700 | 1.000 | 19 | 1963 | 2016 | |||||||||||
|
22 | 41127646 | stop gained | C/T | snv |
|
0.700 | 1.000 | 19 | 1963 | 2016 | |||||||||||
|
22 | 41131612 | frameshift variant | -/T | delins |
|
0.700 | 1.000 | 19 | 1963 | 2016 | |||||||||||
|
22 | 41168719 | splice acceptor variant | A/G | snv |
|
0.700 | 1.000 | 19 | 1963 | 2016 | |||||||||||
|
1.000 | 22 | 41170482 | stop gained | C/T | snv |
|
0.700 | 1.000 | 19 | 1963 | 2016 | ||||||||||
|
1.000 | 22 | 41170482 | stop gained | C/T | snv |
|
0.700 | 1.000 | 19 | 1963 | 2016 | ||||||||||
|
1.000 | 0.120 | 22 | 41117194 | frameshift variant | CTCT/- | delins |
|
0.700 | 1.000 | 2 | 2014 | 2016 | |||||||||
|
1.000 | 0.120 | 22 | 41178931 | frameshift variant | CA/- | delins |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.807 | 0.200 | 22 | 41169525 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.200 | 22 | 41169525 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.200 | 22 | 41169525 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.200 | 22 | 41169525 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.200 | 22 | 41169525 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.200 | 22 | 41169525 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.120 | 22 | 41162784 | splice region variant | G/C | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.120 | 22 | 41172557 | missense variant | T/G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.120 | 22 | 41177712 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 22 | 41177712 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.120 | 22 | 41176400 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.120 | 22 | 41176420 | frameshift variant | -/ATGT | delins |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.200 | 22 | 41172631 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.200 | 22 | 41172631 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.120 | 22 | 41158483 | stop gained | T/A;C | snv | 3.2E-05 |
|
0.700 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
1.000 | 0.120 | 22 | 41178337 | inframe deletion | CCAGTTCCAGCA/- | delins | 1.6E-03 | 1.7E-03 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.120 | 22 | 41155015 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 |