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 | 2 | 178802273 | missense variant | C/T | snv | 4.4E-05 | 1.4E-05 |
|
0.800 | 1.000 | 0 | 2002 | 2005 | |||||||
|
0.925 | 0.040 | 2 | 178782980 | missense variant | A/G;T | snv |
|
0.800 | 1.000 | 0 | 2002 | 2005 | |||||||||
|
1.000 | 0.120 | 2 | 178527121 | missense variant | A/G | snv |
|
0.800 | 1.000 | 0 | 2002 | 2003 | |||||||||
|
1.000 | 0.040 | 2 | 178785990 | missense variant | G/A | snv |
|
0.800 | 1.000 | 0 | 2002 | 2005 | |||||||||
|
1.000 | 0.120 | 2 | 178527148 | missense variant | A/C;G;T | snv | 4.0E-06; 4.0E-06 |
|
0.800 | 1.000 | 0 | 2002 | 2003 | ||||||||
|
0.882 | 0.080 | 2 | 178785999 | missense variant | C/A;T | snv | 2.0E-05 |
|
0.800 | 1.000 | 0 | 1999 | 2011 | ||||||||
|
0.851 | 0.200 | 2 | 178546102 | missense variant | A/G | snv | 4.1E-06 |
|
0.730 | 1.000 | 0 | 2014 | 2016 | ||||||||
|
1.000 | 0.160 | 2 | 178799566 | missense variant | G/A | snv | 1.9E-04 | 2.9E-04 |
|
0.710 | < 0.001 | 0 | 2010 | 2010 | |||||||
|
0.882 | 0.200 | 2 | 178527151 | missense variant | T/G | snv |
|
0.710 | 1.000 | 0 | 2010 | 2010 | |||||||||
|
2 | 178531129 | frameshift variant | C/- | delins |
|
0.700 | 1.000 | 14 | 1991 | 2014 | |||||||||||
|
0.925 | 0.160 | 2 | 178593732 | frameshift variant | C/-;CCC | delins |
|
0.700 | 1.000 | 14 | 1991 | 2014 | |||||||||
|
0.925 | 0.160 | 2 | 178589804 | stop gained | G/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 14 | 1991 | 2014 | ||||||||
|
0.925 | 0.160 | 2 | 178534092 | stop gained | G/A | snv | 4.0E-06 |
|
0.700 | 1.000 | 7 | 2008 | 2017 | ||||||||
|
0.925 | 0.160 | 2 | 178534092 | stop gained | G/A | snv | 4.0E-06 |
|
0.700 | 1.000 | 7 | 2008 | 2017 | ||||||||
|
0.925 | 0.160 | 2 | 178591977 | splice donor variant | C/T | snv | 4.1E-06 |
|
0.700 | 1.000 | 6 | 2007 | 2018 | ||||||||
|
0.925 | 0.160 | 2 | 178591977 | splice donor variant | C/T | snv | 4.1E-06 |
|
0.700 | 1.000 | 6 | 2007 | 2018 | ||||||||
|
0.925 | 0.160 | 2 | 178615486 | splice acceptor variant | T/G | snv |
|
0.700 | 1.000 | 5 | 2007 | 2015 | |||||||||
|
0.925 | 0.160 | 2 | 178615486 | splice acceptor variant | T/G | snv |
|
0.700 | 1.000 | 5 | 2007 | 2015 | |||||||||
|
0.925 | 0.040 | 2 | 178782980 | missense variant | A/G;T | snv |
|
0.700 | 1.000 | 5 | 1999 | 2017 | |||||||||
|
0.882 | 0.160 | 2 | 178527198 | missense variant | CCATGTTACTT/TTTTTCTTTCA | mnv |
|
0.700 | 1.000 | 5 | 2002 | 2015 | |||||||||
|
0.882 | 0.160 | 2 | 178527198 | missense variant | CCATGTTACTT/TTTTTCTTTCA | mnv |
|
0.700 | 1.000 | 5 | 2002 | 2015 | |||||||||
|
2 | 178702186 | frameshift variant | CTGCCGTGCT/- | delins |
|
0.700 | 1.000 | 5 | 2002 | 2012 | |||||||||||
|
0.882 | 0.200 | 2 | 178546041 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 |
|
0.700 | 1.000 | 5 | 2012 | 2015 | |||||||
|
0.882 | 0.200 | 2 | 178546041 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 |
|
0.700 | 1.000 | 5 | 2012 | 2015 | |||||||
|
0.925 | 0.160 | 2 | 178608479 | splice acceptor variant | T/G | snv | 2.1E-05 |
|
0.700 | 1.000 | 5 | 2007 | 2015 |