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 | 129315823 | frameshift variant | TTCTCTACATATAATCCTCAAGT/- | delins | 1.6E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.925 | 0.120 | 6 | 129464289 | splice acceptor variant | TCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCTG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 129492408 | frameshift variant | TCCAG/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 129460250 | frameshift variant | TA/- | delins | 4.0E-06 | 0.700 | 1.000 | 1 | 1997 | 1997 | ||||
|
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 | 129403961 | splice donor variant | T/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.120 | 6 | 129486605 | missense variant | T/C;G | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 6 | 129481381 | missense variant | T/C | snv | 1.4E-05 | 0.800 | 1.000 | 5 | 2001 | 2017 | ||||
|
1 | 1.000 | 0.120 | 6 | 129287893 | missense variant | T/C | snv | 7.0E-06 | 0.700 | 1.000 | 4 | 2001 | 2017 | ||||
|
1 | 1.000 | 0.120 | 6 | 128883247 | start lost | T/C | snv | 1.4E-05 | 0.700 | 1.000 | 1 | 1998 | 1998 | ||||
|
2 | 0.925 | 0.120 | 6 | 129177868 | splice donor variant | T/C | 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 | 129315549 | frameshift variant | T/- | delins | 4.2E-05 | 0.700 | 1.000 | 2 | 2005 | 2010 | ||||
|
1 | 1.000 | 0.120 | 6 | 129287862 | frameshift variant | T/- | delins | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 2 | 2010 | 2016 | |||
|
1 | 1.000 | 0.120 | 6 | 129492394 | stop gained | G/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 6 | 129059897 | splice donor variant | G/T | snv | 2.4E-05 | 7.0E-06 | 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 | 129445822 | splice donor variant | G/C;T | snv | 4.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 6 | 129401345 | splice region variant | G/C | snv | 2.0E-05 | 2.1E-05 | 0.700 | 1.000 | 5 | 2000 | 2017 | |||
|
1 | 1.000 | 0.120 | 6 | 129342468 | splice donor variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 129267220 | splice donor variant | G/C | snv | 4.0E-06 | 7.0E-06 | 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 | 129270623 | splice acceptor variant | G/A;T | snv | 8.0E-06 | 7.0E-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 | 129383212 | stop gained | G/A;C;T | snv | 5.6E-05; 4.0E-06 | 0.700 | 0 |