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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.080 | 1 | 2406791 | frameshift variant | -/T | delins | 2.1E-05 | 7.7E-05 | 0.700 | 1.000 | 4 | 2000 | 2010 | |||
|
4 | 0.882 | 0.080 | 1 | 2406581 | frameshift variant | AG/- | del | 6.3E-05 | 0.700 | 1.000 | 4 | 1998 | 2011 | ||||
|
2 | 0.925 | 0.080 | 1 | 2408700 | stop gained | G/A | snv | 0.700 | 1.000 | 3 | 2000 | 2015 | |||||
|
2 | 0.925 | 0.080 | 1 | 2408679 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 2 | 1998 | 2000 | ||||
|
2 | 0.925 | 0.080 | 1 | 2406766 | stop gained | G/A;C | snv | 2.5E-05 | 0.700 | 1.000 | 2 | 2004 | 2006 | ||||
|
2 | 0.925 | 0.080 | 1 | 2412501 | start lost | A/G | snv | 0.700 | 1.000 | 2 | 2010 | 2011 | |||||
|
2 | 0.925 | 0.080 | 1 | 2406740 | frameshift variant | TG/- | delins | 0.700 | 1.000 | 1 | 1995 | 1995 | |||||
|
2 | 0.925 | 0.080 | 1 | 2406581 | frameshift variant | A/- | del | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||
|
2 | 0.925 | 0.080 | 1 | 2406600 | frameshift variant | TC/- | delins | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||
|
2 | 0.925 | 0.080 | 1 | 2406735 | frameshift variant | C/- | delins | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||
|
2 | 0.925 | 0.080 | 1 | 2412502 | start lost | T/C | snv | 2.1E-05 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 1 | 2406718 | splice donor variant | A/G;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 1 | 2406483 | splice donor variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 1 | 2406918 | frameshift variant | TC/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 1 | 2406920 | frameshift variant | CA/GAG | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 1 | 2406932 | frameshift variant | AG/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 1 | 2408451 | splice donor variant | C/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 1 | 2412477 | frameshift variant | G/-;GG | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 1 | 2412483 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 1 | 2408451 | splice donor variant | C/T | snv | 2.4E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 1 | 2406793 | stop gained | GCAGCCCCATGG/- | del | 4.1E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 1 | 2406606 | stop gained | C/A;T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 1 | 2410452 | splice acceptor variant | C/T | snv | 2.1E-05 | 0.700 | 0 |