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 | 0.120 | 5 | 112835165 | splice region variant | -/GT | delins | 0.700 | 1.000 | 2 | 2010 | 2015 | |||||
|
1 | 1.000 | 0.120 | 5 | 112840425 | stop gained | C/G;T | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2003 | 2010 | ||||
|
3 | 0.925 | 0.120 | 5 | 112819026 | stop gained | C/G;T | snv | 0.700 | 1.000 | 2 | 2000 | 2005 | |||||
|
2 | 0.925 | 0.120 | 5 | 112835123 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 1997 | 1997 | |||||
|
2 | 1.000 | 0.120 | 5 | 112837697 | frameshift variant | G/-;GG | delins | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.120 | 5 | 112839404 | frameshift variant | T/- | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 5 | 112839848 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2002 | 2002 | |||||
|
1 | 1.000 | 0.120 | 5 | 112792474 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
3 | 0.925 | 0.120 | 5 | 112835093 | stop gained | T/A;C;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 5 | 112839999 | stop gained | C/G;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.120 | 5 | 112780782 | splice region variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 5 | 112821953 | stop gained | C/A;G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 5 | 112819276 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 5 | 112835163 | splice region variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112839048 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 5 | 112815548 | frameshift variant | ACAC/-;AC | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 5 | 112835166 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 5 | 112828885 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 5 | 112838394 | frameshift variant | TTAC/- | delins | 0.700 | 0 | ||||||||
|
11 | 0.851 | 0.120 | 5 | 112838934 | stop gained | C/A;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.925 | 0.120 | 5 | 112839942 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.882 | 0.120 | 5 | 112838220 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112838544 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 112843551 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.120 | 5 | 112815564 | stop gained | C/T | snv | 0.700 | 0 |