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 | 6 | 129492078 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 129427751 | splice acceptor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 129149097 | splice donor variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 129353358 | splice donor variant | G/C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 6 | 129280072 | missense variant | C/T | snv | 1.9E-03 | 1.7E-03 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.120 | 6 | 129149008 | frameshift variant | AT/- | del | 2.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 6 | 129297729 | stop gained | C/A | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 6 | 129353321 | frameshift variant | A/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 6 | 129445822 | splice donor variant | G/C;T | snv | 4.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 6 | 129270623 | splice acceptor variant | G/A;T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 6 | 129492394 | stop gained | G/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 6 | 129143900 | splice acceptor variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 129165677 | splice donor variant | T/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 6 | 128883351 | stop gained | C/G;T | snv | 4.7E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 6 | 129165669 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 6 | 129320656 | splice donor variant | G/A | snv | 4.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
7 | 0.882 | 0.240 | 6 | 129143976 | missense variant | C/T | snv | 6.0E-05 | 9.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 6 | 129098169 | splice acceptor variant | CTAGGTGTTCCAGATCGCGTATGTGATTGTGAAGGCAGCTAACTCCCCCCGGCCTGGAAACTGGATTTTGGAACGCTCTCTTGATG/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 129144081 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 129177705 | splice acceptor variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 6 | 129177868 | splice donor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 129252296 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 6 | 129315952 | splice donor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 129403961 | splice donor variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 129427750 | splice acceptor variant | A/G | snv | 0.700 | 0 |