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 | 0.080 | 6 | 63721226 | stop gained | G/T | snv | 3.2E-05 | 2.1E-05 | 0.710 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.080 | 6 | 63762520 | stop gained | A/T | snv | 1.3E-05 | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 6 | 64066349 | frameshift variant | A/- | del | 2.8E-05 | 0.700 | 1.000 | 5 | 2008 | 2019 | ||||
|
2 | 0.925 | 0.080 | 6 | 63720695 | frameshift variant | AATTTTGCCAACAAAATTGG/- | del | 6.5E-06 | 2.8E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.080 | 6 | 64388842 | splice acceptor variant | T/C | snv | 2.6E-05 | 7.7E-05 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.080 | 6 | 65057613 | splice donor variant | C/T | snv | 7.4E-04 | 3.4E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 6 | 63721252 | missense variant | A/G | snv | 3.8E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 1.000 | 0.080 | 6 | 63864319 | stop gained | A/C | snv | 1.9E-05 | 4.2E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.080 | 6 | 64590909 | frameshift variant | -/T | delins | 6.6E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 6 | 63721376 | frameshift variant | CTGCATGT/- | delins | 7.5E-04 | 6.7E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 6 | 64912505 | stop gained | G/A | snv | 3.8E-05 | 5.6E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.080 | 6 | 64591511 | frameshift variant | TATAAGC/- | delins | 7.8E-05 | 1.0E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 6 | 63726641 | stop gained | A/C | snv | 3.9E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.080 | 6 | 65494921 | stop gained | G/A | snv | 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.080 | 6 | 64591035 | frameshift variant | AATG/- | delins | 7.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 6 | 64591822 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 6 | 63984462 | stop gained | G/A | snv | 2.5E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 6 | 65405253 | missense variant | C/T | snv | 1.8E-03 | 3.7E-03 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 6 | 63726584 | frameshift variant | T/- | del | 1.3E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 6 | 64593219 | stop gained | G/A;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 6 | 64081882 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 6 | 65353609 | stop gained | G/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 6 | 64388841 | splice acceptor variant | CTG/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 63721353 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 64590459 | stop gained | G/C | snv | 0.700 | 0 |