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 | 1 | 97699350 | splice donor variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 97549704 | frameshift variant | -/C | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 97828115 | stop gained | T/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 97373561 | frameshift variant | TGCCCACAGGCCAGGC/- | delins | 2.1E-05 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 1 | 97373560 | splice donor variant | C/G | snv | 1.3E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 97920920 | start lost | C/T | snv | 9.7E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 97515739 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 97305283 | stop gained | G/A | snv | 2.8E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 97450114 | missense variant | G/A | snv | 1.6E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.080 | 1 | 97593236 | frameshift variant | AT/- | delins | 4.0E-06 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.080 | 1 | 97193112 | frameshift variant | T/- | del | 3.6E-05 | 6.3E-05 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 1 | 97883353 | stop gained | G/A | snv | 1.2E-05 | 0.700 | 1.000 | 3 | 2003 | 2014 | ||||
|
3 | 0.925 | 0.080 | 1 | 97828160 | missense variant | T/C | snv | 3.2E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
10 | 0.776 | 0.320 | 1 | 97699535 | missense variant | T/C | snv | 8.5E-02 | 8.1E-02 | 0.020 | 1.000 | 2 | 2016 | 2019 | |||
|
1 | 1.000 | 0.080 | 1 | 97828127 | stop gained | G/A | snv | 1.3E-04 | 6.3E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 97098598 | missense variant | C/T | snv | 4.4E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 97691776 | missense variant | G/A | snv | 8.0E-05 | 3.5E-05 | 0.710 | 1.000 | 1 | 1997 | 1997 | |||
|
13 | 0.763 | 0.280 | 1 | 97883329 | missense variant | A/G | snv | 0.28 | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.807 | 0.240 | 1 | 97305364 | missense variant | C/T | snv | 4.7E-02 | 3.9E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.160 | 1 | 97515865 | missense variant | C/T | snv | 1.5E-02 | 1.4E-02 | 0.020 | 0.500 | 2 | 2007 | 2015 | |||
|
1 | 1.000 | 0.080 | 1 | 97306178 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 97306176 | splice region variant | CCTT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 97828113 | splice donor variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 97098533 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 97593304 | frameshift variant | CA/- | delins | 0.700 | 1.000 | 1 | 2002 | 2002 |