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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.160 | 7 | 107689156 | stop gained | A/G;T | snv |
|
0.710 | 1.000 | 2 | 2010 | 2015 | |||||||||
|
1.000 | 0.160 | 7 | 107663435 | missense variant | G/C | snv | 4.0E-06 |
|
0.700 | 1.000 | 18 | 1997 | 2009 | ||||||||
|
1.000 | 0.160 | 7 | 107690205 | missense variant | G/C;T | snv | 8.0E-06 |
|
0.700 | 1.000 | 18 | 1997 | 2009 | ||||||||
|
1.000 | 0.160 | 7 | 107672147 | missense variant | A/G | snv | 7.0E-06 |
|
0.700 | 1.000 | 18 | 1997 | 2009 | ||||||||
|
1.000 | 0.160 | 7 | 107672242 | missense variant | T/C | snv |
|
0.700 | 1.000 | 18 | 1997 | 2009 | |||||||||
|
1.000 | 0.160 | 7 | 107701981 | missense variant | T/C | snv |
|
0.700 | 1.000 | 18 | 1997 | 2009 | |||||||||
|
0.925 | 0.160 | 7 | 107690178 | missense variant | G/A | snv |
|
0.700 | 1.000 | 18 | 1997 | 2009 | |||||||||
|
0.925 | 0.160 | 7 | 107701998 | missense variant | G/C | snv | 8.0E-06 | 1.4E-05 |
|
0.700 | 1.000 | 14 | 2007 | 2014 | |||||||
|
0.925 | 0.160 | 7 | 107695984 | missense variant | G/A;C | snv | 2.0E-05 | 6.3E-05 |
|
0.700 | 1.000 | 12 | 1998 | 2015 | |||||||
|
0.925 | 0.160 | 7 | 107690171 | frameshift variant | T/- | delins | 7.0E-06 |
|
0.700 | 1.000 | 12 | 1997 | 2015 | ||||||||
|
0.925 | 0.160 | 7 | 107689130 | missense variant | C/T | snv | 7.0E-06 |
|
0.700 | 1.000 | 10 | 2007 | 2014 | ||||||||
|
0.925 | 0.160 | 7 | 107702050 | missense variant | T/A | snv |
|
0.700 | 1.000 | 9 | 2003 | 2014 | |||||||||
|
0.925 | 0.160 | 7 | 107698083 | missense variant | T/G | snv |
|
0.700 | 1.000 | 8 | 2007 | 2014 | |||||||||
|
1.000 | 0.160 | 7 | 107698042 | frameshift variant | -/C | delins |
|
0.700 | 1.000 | 7 | 2003 | 2013 | |||||||||
|
1.000 | 0.160 | 7 | 107690147 | missense variant | C/A | snv |
|
0.700 | 1.000 | 6 | 2006 | 2016 | |||||||||
|
1.000 | 0.160 | 7 | 107694419 | inframe deletion | TGC/- | delins | 2.8E-05 |
|
0.700 | 1.000 | 6 | 1998 | 2013 | ||||||||
|
1.000 | 0.160 | 7 | 107690212 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 6 | 2011 | 2015 | |||||||
|
0.925 | 0.160 | 7 | 107710135 | missense variant | A/G | snv | 2.0E-05 | 2.8E-05 |
|
0.700 | 1.000 | 6 | 2004 | 2015 | |||||||
|
1.000 | 0.160 | 7 | 107690152 | inframe deletion | TCT/- | delins |
|
0.700 | 1.000 | 6 | 2001 | 2015 | |||||||||
|
0.925 | 0.160 | 7 | 107683453 | splice acceptor variant | A/G | snv | 3.6E-04 | 1.7E-04 |
|
0.700 | 1.000 | 5 | 1999 | 2012 | |||||||
|
0.925 | 0.160 | 7 | 107690199 | missense variant | C/T | snv | 1.6E-05 |
|
0.700 | 1.000 | 5 | 2010 | 2014 | ||||||||
|
0.925 | 0.160 | 7 | 107698076 | missense variant | A/C | snv |
|
0.700 | 1.000 | 5 | 2010 | 2015 | |||||||||
|
1.000 | 0.160 | 7 | 107696017 | missense variant | A/G | snv |
|
0.700 | 1.000 | 5 | 2013 | 2017 | |||||||||
|
0.925 | 0.160 | 7 | 107694622 | stop gained | C/A;G;T | snv | 2.0E-05 | 2.1E-05 |
|
0.700 | 1.000 | 5 | 2005 | 2011 | |||||||
|
0.925 | 0.160 | 7 | 107704382 | stop gained | C/T | snv | 1.3E-05 |
|
0.700 | 1.000 | 5 | 2011 | 2014 |