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 | 68829885 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 68829886 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 68838684 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 68839664 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 68839723 | missense variant | C/G;T | snv | 5.6E-06; 5.6E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | X | 68840021 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 68829906 | splice donor variant | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 68838619 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 68839757 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 68839983 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 68840020 | frameshift variant | AC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 68839708 | missense variant | G/A | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 68839709 | missense variant | G/T | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 68839729 | missense variant | A/C;G | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 68839753 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 68838820 | missense variant | C/T | snv | 0.800 | 1.000 | 0 | 2004 | 2005 | |||||
|
1 | 1.000 | 0.080 | X | 68838649 | missense variant | C/A;G;T | snv | 0.800 | 1.000 | 0 | 2004 | 2005 | |||||
|
1 | 1.000 | 0.080 | X | 68839731 | missense variant | G/T | snv | 0.800 | 1.000 | 0 | 2004 | 2005 |