Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.040 | 14 | 104741231 | missense variant | G/A | snv | 3.4E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 10 | 110812303 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 5 | 2009 | 2016 | |||||||||
|
0.925 | 0.040 | 10 | 110812304 | missense variant | G/A | snv | 1.4E-05 |
|
0.700 | 1.000 | 3 | 2009 | 2013 | ||||||||
|
0.925 | 0.040 | 10 | 110812310 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 4 | 2009 | 2012 | |||||||||
|
1.000 | 0.040 | 10 | 110821333 | missense variant | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 10 | 110821356 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
10 | 110821365 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||||
|
10 | 110821880 | frameshift variant | CC/G | delins |
|
0.700 | 1.000 | 2 | 2009 | 2010 | |||||||||||
|
10 | 110831154 | missense variant | G/A | snv | 2.8E-04 | 6.3E-05 |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 12 | 110913097 | missense variant | T/G | snv | 2.0E-04 | 2.9E-04 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.040 | 6 | 118558946 | missense variant | C/T | snv |
|
0.710 | 1.000 | 9 | 2003 | 2018 | |||||||||
|
0.925 | 0.080 | 6 | 118558957 | inframe deletion | AGA/- | delins | 1.4E-05 |
|
0.700 | 1.000 | 7 | 2006 | 2012 | ||||||||
|
0.807 | 0.040 | 6 | 118559037 | stop gained | T/G | snv | 1.6E-05 |
|
0.710 | 1.000 | 0 | 2003 | 2003 | ||||||||
|
10 | 119651742 | frameshift variant | C/-;CC | delins |
|
0.700 | 0 | ||||||||||||||
|
10 | 119651752 | stop gained | G/A | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
10 | 119651774 | frameshift variant | ACCGGCTG/- | delins |
|
0.700 | 0 | ||||||||||||||
|
10 | 119669920 | frameshift variant | -/TGTGTAC | delins |
|
0.700 | 0 | ||||||||||||||
|
0.925 | 0.080 | 10 | 119670037 | stop gained | C/T | snv | 8.0E-06 |
|
0.700 | 1.000 | 3 | 2011 | 2015 | ||||||||
|
0.925 | 0.080 | 10 | 119672477 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
10 | 119672657 | splice donor variant | G/A | snv |
|
0.700 | 0 | ||||||||||||||
|
0.882 | 0.120 | 10 | 119676479 | stop gained | C/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 4 | 2011 | 2014 | ||||||||
|
1.000 | 10 | 119676617 | frameshift variant | C/- | delins |
|
0.700 | 1.000 | 2 | 2011 | 2011 | ||||||||||
|
10 | 119676851 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||||
|
0.827 | 0.120 | 10 | 119676917 | missense variant | G/A | snv |
|
0.710 | 1.000 | 4 | 2011 | 2017 | |||||||||
|
1.000 | 0.160 | X | 120441803 | frameshift variant | A/- | del |
|
0.700 | 0 |