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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 5 | 149028145 | missense variant | AC/CT | mnv | 0.700 | 1.000 | 6 | 2003 | 2017 | |||||
|
1 | 1.000 | 0.080 | 19 | 40395498 | frameshift variant | -/A | delins | 0.700 | 1.000 | 5 | 2004 | 2016 | |||||
|
1 | 1.000 | 0.080 | 11 | 9807999 | splice donor variant | C/T | snv | 0.700 | 1.000 | 3 | 2003 | 2014 | |||||
|
1 | 1.000 | 0.080 | 8 | 133264546 | splice donor variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 2 | 2003 | 2013 | ||||
|
1 | 1.000 | 0.080 | 6 | 109792591 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 2014 | 2017 | |||||
|
1 | 1.000 | 0.080 | 5 | 149009002 | splice acceptor variant | C/A | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 5 | 149038491 | splice acceptor variant | C/T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 6 | 109735148 | splice acceptor variant | A/G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 11 | 95849673 | splice donor variant | C/T | snv | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||
|
1 | 1.000 | 0.080 | 11 | 95850598 | splice donor variant | A/C | snv | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||
|
1 | 1.000 | 0.080 | 5 | 149028209 | frameshift variant | AAAC/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 11 | 95850599 | splice donor variant | C/G | snv | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||
|
1 | 1.000 | 0.080 | 19 | 40398648 | frameshift variant | T/- | delins | 0.700 | 1.000 | 1 | 2002 | 2002 | |||||
|
5 | 0.851 | 0.080 | 8 | 74360184 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.080 | 10 | 62813835 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 9853539 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.160 | 8 | 133258374 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 11 | 95849841 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 10294049 | frameshift variant | GT/- | del | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 12 | 32602315 | frameshift variant | C/- | del | 3.5E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 5 | 149027754 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 5 | 149027863 | frameshift variant | CC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 5 | 149042727 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 109760316 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 95838148 | frameshift variant | -/TA | delins | 0.700 | 0 |