| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 1 | 156134865 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.925 | 0.080 | 1 | 156134890 | missense variant | C/T | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
1 | 156137180 | missense variant | C/T | snv | 2.1E-05 | 3.5E-05 |
|
0.700 | 0 | ||||||||||||
|
1 | 156135231 | frameshift variant | G/- | delins |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||||
|
0.827 | 0.160 | 1 | 156134496 | missense variant | G/A | snv |
|
0.700 | 1.000 | 5 | 2001 | 2013 | |||||||||
|
0.882 | 0.160 | 1 | 156130741 | missense variant | G/A | snv |
|
0.700 | 1.000 | 4 | 2003 | 2009 | |||||||||
|
1 | 156134933 | synonymous variant | G/A | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 0.040 | 1 | 156115168 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 1 | 156135956 | missense variant | G/A;C | snv | 1.2E-05 |
|
0.710 | 1.000 | 8 | 2007 | 2018 | ||||||||
|
0.925 | 0.120 | 1 | 156115162 | missense variant | G/A;C | snv |
|
0.720 | 1.000 | 6 | 2005 | 2010 | |||||||||
|
0.851 | 0.160 | 1 | 156137667 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 6 | 2003 | 2014 | |||||||||
|
0.925 | 0.120 | 1 | 156136952 | missense variant | G/A;C | snv | 1.4E-05 |
|
0.700 | 1.000 | 4 | 2007 | 2012 | ||||||||
|
1 | 156137653 | splice acceptor variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2008 | 2016 | |||||||||||
|
1.000 | 0.080 | 1 | 156115275 | splice donor variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2012 | 2013 | |||||||||
|
1 | 156130774 | splice donor variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
0.925 | 0.120 | 1 | 156135913 | stop gained | G/A;T | snv |
|
0.700 | 1.000 | 3 | 2002 | 2009 | |||||||||
|
0.925 | 0.040 | 1 | 156136080 | missense variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
1 | 156134949 | stop gained | G/T | snv |
|
0.700 | 1.000 | 1 | 2000 | 2000 | |||||||||||
|
1 | 156136352 | frameshift variant | GCACGCAC/-;GCACGCACGCAC | delins |
|
0.700 | 0 | ||||||||||||||
|
1 | 156136049 | frameshift variant | T/- | delins |
|
0.700 | 1.000 | 2 | 2006 | 2011 | |||||||||||
|
1 | 156134964 | missense variant | T/C | snv |
|
0.700 | 1.000 | 2 | 2003 | 2008 | |||||||||||
|
0.925 | 0.120 | 1 | 156130745 | missense variant | T/C | snv |
|
0.700 | 1.000 | 2 | 2000 | 2008 | |||||||||
|
1 | 156136070 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||||
|
1 | 156134875 | missense variant | T/C | snv |
|
0.700 | 0 |