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 | 17 | 17219017 | splice donor variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.080 | 17 | 17213816 | stop gained | G/A | snv | 1.4E-05 | 0.700 | 1.000 | 5 | 2005 | 2015 | ||||
|
1 | 1.000 | 0.080 | 17 | 17214991 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 17214993 | inframe deletion | CCT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 17214995 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 17215032 | frameshift variant | -/ACAG | delins | 0.700 | 1.000 | 5 | 2005 | 2015 | |||||
|
6 | 0.827 | 0.240 | 17 | 17215188 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 5 | 2005 | 2017 | ||||
|
2 | 1.000 | 0.080 | 17 | 17215282 | frameshift variant | -/GCGGCTGCGTGGACCTC | delins | 0.700 | 1.000 | 2 | 2008 | 2010 | |||||
|
2 | 1.000 | 0.080 | 17 | 17216379 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 17216393 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 17217106 | frameshift variant | TCTGCTTTTCCAGATC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 17217147 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 17219038 | frameshift variant | TGAAGACT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 17219153 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 17 | 17219206 | stop gained | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 17221555 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 17221557 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.200 | 17 | 17222517 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 17 | 17222528 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 17222542 | frameshift variant | ACTT/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 17222647 | frameshift variant | CT/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 17224087 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 17 | 17228135 | start lost | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 17219094 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 17221580 | frameshift variant | A/TCT | delins | 0.700 | 0 |