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 | X | 154030832 | synonymous variant | G/A | snv | 2.5E-04 | 1.2E-04 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.080 | X | 154030763 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | X | 154030391 | synonymous variant | C/T | snv | 1.1E-04 | 7.6E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.080 | X | 154030799 | frameshift variant | C/-;CC | delins | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.080 | X | 154030798 | missense variant | G/A;C | snv | 3.8E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.200 | X | 18581942 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | X | 18628374 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.200 | X | 18564496 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | X | 18604599 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 18564524 | splice donor variant | T/C | snv | 2.0E-04 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | X | 18575368 | frameshift variant | GAAA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 18579917 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | X | 18579945 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 18581951 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.200 | X | 18584331 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 18588006 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 18604234 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | X | 18604572 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 18604632 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 18604814 | frameshift variant | -/TA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 18609464 | splice acceptor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 18619971 | splice region variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 18575419 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.080 | X | 154031405 | stop gained | G/C;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | X | 18584324 | missense variant | A/T | snv | 0.700 | 0 |