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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 1.000 | 0.160 | 2 | 47804946 | stop gained | -/A | delins | 0.700 | 1.000 | 5 | 2011 | 2017 | |||||
|
2 | 1.000 | 0.160 | 2 | 47799553 | stop gained | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47800748 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.160 | 2 | 47806453 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47799798 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47806314 | frameshift variant | -/A | ins | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.160 | 2 | 47799772 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47804990 | frameshift variant | -/A | ins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 2 | 47799501 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 2 | 47804984 | frameshift variant | -/A;AA | delins | 0.700 | 1.000 | 8 | 1999 | 2010 | |||||
|
2 | 1.000 | 0.160 | 2 | 47806499 | frameshift variant | -/A;GGA | delins | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.160 | 2 | 47806216 | frameshift variant | -/AACA | delins | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.160 | 2 | 47806256 | inframe insertion | -/AACTTG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47806581 | frameshift variant | -/AAGT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47806234 | stop gained | -/AATAGCAAATGCAGTTGTTAAAGAACTTG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47806466 | stop gained | -/AATG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47800105 | stop gained | -/ATA | delins | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.160 | 2 | 47806628 | frameshift variant | -/ATCA | delins | 0.700 | 1.000 | 3 | 2010 | 2014 | |||||
|
1 | 1.000 | 0.160 | 2 | 47806634 | frameshift variant | -/ATCA | ins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 2 | 47806568 | frameshift variant | -/ATCTCCCA | delins | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.160 | 2 | 47803577 | stop gained | -/ATGA | delins | 7.0E-06 | 0.700 | 1.000 | 4 | 2009 | 2015 | ||||
|
4 | 0.925 | 0.160 | 2 | 47806496 | frameshift variant | -/ATTA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47806285 | frameshift variant | -/ATTA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47800592 | frameshift variant | -/ATTA | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 2 | 47806309 | stop gained | -/ATTA | delins | 0.700 | 0 |