| 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 | 0.200 | 17 | 43045761 | missense variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.925 | 0.080 | 17 | 43045748 | missense variant | C/G;T | snv |
|
0.010 | < 0.001 | 1 | 2007 | 2007 | |||||||||
|
0.925 | 0.080 | 17 | 43094397 | missense variant | G/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.882 | 0.080 | 17 | 43093956 | frameshift variant | A/-;AA | delins |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.752 | 0.240 | 17 | 43094464 | frameshift variant | T/- | del |
|
0.020 | 0.500 | 2 | 2002 | 2008 | |||||||||
|
0.925 | 0.080 | 17 | 43093409 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.925 | 0.080 | 17 | 43067643 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.080 | 17 | 43092674 | frameshift variant | AA/- | delins |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.851 | 0.080 | 17 | 43093454 | missense variant | C/A;T | snv | 5.8E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.080 | 17 | 43045769 | missense variant | G/A | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.080 | 17 | 43124091 | synonymous variant | A/G | snv | 8.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.763 | 0.240 | 17 | 43106457 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.080 | 17 | 43093295 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.925 | 0.080 | 17 | 43104233 | synonymous variant | C/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.200 | 17 | 43106457 | frameshift variant | T/-;TT | delins |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.807 | 0.280 | 17 | 43092919 | frameshift variant | G/AA | delins |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.882 | 0.080 | 17 | 43070984 | stop gained | C/A | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.925 | 0.080 | 17 | 43094025 | synonymous variant | T/C | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.200 | 17 | 43104260 | stop gained | A/C;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.200 | 17 | 43106497 | frameshift variant | C/-;CC | delins |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||||
|
0.882 | 0.080 | 17 | 43082496 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.020 | 0.500 | 2 | 2004 | 2010 | |||||||
|
0.776 | 0.160 | 17 | 43126360 | intron variant | G/A | snv | 0.31 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 17 | 43097246 | splice region variant | G/A | snv | 1.5E-03 | 1.2E-03 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.882 | 0.200 | 17 | 43097266 | missense variant | C/T | snv | 3.0E-04 | 2.2E-04 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.080 | 17 | 43115736 | missense variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 |