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 | 11 | 6614576 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 6614608 | missense variant | G/A | snv | 0.700 | 1.000 | 14 | 1997 | 2012 | |||||
|
1 | 1.000 | 0.120 | 11 | 6614617 | frameshift variant | GACCAGAGCAG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 6614687 | splice acceptor variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 6614865 | splice donor variant | C/A;G;T | snv | 0.700 | 1.000 | 4 | 2011 | 2015 | |||||
|
2 | 0.925 | 0.120 | 11 | 6614892 | stop gained | G/A | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 1 | 2000 | 2000 | |||
|
13 | 0.776 | 0.280 | 11 | 6614968 | frameshift variant | C/-;CC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 6614973 | missense variant | C/G | snv | 0.700 | 1.000 | 14 | 1997 | 2012 | |||||
|
2 | 0.925 | 0.120 | 11 | 6615172 | missense variant | G/A | snv | 2.4E-05 | 0.800 | 1.000 | 17 | 1997 | 2013 | ||||
|
1 | 1.000 | 0.120 | 11 | 6615179 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 14 | 1997 | 2012 | |||
|
1 | 1.000 | 0.120 | 11 | 6615203 | frameshift variant | GT/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 11 | 6615217 | stop gained | C/T | snv | 0.700 | 1.000 | 3 | 2001 | 2012 | |||||
|
10 | 0.807 | 0.200 | 11 | 6615220 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 6615228 | frameshift variant | GA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 6615235 | missense variant | G/T | snv | 0.700 | 1.000 | 14 | 1997 | 2012 | |||||
|
1 | 1.000 | 0.120 | 11 | 6615251 | inframe insertion | -/CGGCCACTGGCA | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 11 | 6615256 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 11 | 6615442 | missense variant | C/G | snv | 2.0E-05 | 2.1E-05 | 0.800 | 1.000 | 14 | 1997 | 2012 | |||
|
1 | 1.000 | 0.120 | 11 | 6615449 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 11 | 6615542 | missense variant | C/T | snv | 0.700 | 1.000 | 14 | 1997 | 2012 | |||||
|
1 | 1.000 | 0.120 | 11 | 6615554 | missense variant | A/T | snv | 0.700 | 1.000 | 14 | 1997 | 2012 | |||||
|
2 | 0.925 | 0.120 | 11 | 6616004 | splice donor variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 6616052 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 11 | 6616056 | missense variant | C/T | snv | 1.6E-05 | 4.9E-05 | 0.800 | 1.000 | 6 | 1997 | 2012 | |||
|
1 | 1.000 | 0.120 | 11 | 6616057 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 0 |