| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.200 | 5 | 112815507 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.120 | 5 | 112819347 | splice region variant | A/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 5 | 112815594 | splice donor variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.645 | 0.360 | 17 | 7674216 | missense variant | C/A;G | snv |
|
0.800 | 1.000 | 22 | 1994 | 2020 | |||||||||
|
0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 |
|
0.030 | 1.000 | 3 | 1996 | 2014 | |||||||
|
0.882 | 0.200 | 11 | 112233502 | missense variant | A/G | snv | 2.1E-05 |
|
0.010 | 1.000 | 1 | 1997 | 1997 | ||||||||
|
0.925 | 0.080 | 7 | 116778953 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
0.925 | 0.080 | 7 | 116783421 | missense variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
0.925 | 0.080 | 7 | 116783402 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
0.827 | 0.200 | 17 | 7673608 | missense variant | G/A;C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 1999 | 1999 | ||||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.100 | 0.882 | 17 | 2000 | 2015 | |||||||
|
0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 |
|
0.100 | 0.917 | 12 | 2000 | 2015 | |||||||
|
1.000 | 0.080 | 14 | 54411612 | missense variant | A/G | snv | 3.4E-04 | 2.4E-04 |
|
0.700 | 1.000 | 1 | 2000 | 2000 | |||||||
|
1.000 | 0.080 | 14 | 54411563 | missense variant | C/A;G | snv | 4.0E-06; 2.4E-05 |
|
0.700 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.807 | 0.160 | 2 | 233682328 | missense variant | CG/AA | mnv |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
0.689 | 0.440 | 2 | 31580636 | missense variant | G/A;C;T | snv | 0.66; 4.9E-06 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.807 | 0.160 | 2 | 233682328 | frameshift variant | CG/- | del |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
0.807 | 0.160 | 2 | 233682328 | frameshift variant | CG/A | delins |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
0.851 | 0.160 | 17 | 42909418 | missense variant | G/A;C | snv | 1.6E-05; 5.2E-05 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 |
|
0.020 | 1.000 | 2 | 2003 | 2008 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.900 | 10 | 2004 | 2017 | |||||||
|
0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.700 | 1.000 | 3 | 2004 | 2016 | ||||||||
|
0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 |
|
0.700 | 1.000 | 3 | 2004 | 2016 | ||||||||
|
0.724 | 0.400 | 17 | 7674238 | missense variant | C/A;G;T | snv |
|
0.710 | 1.000 | 2 | 2004 | 2016 | |||||||||
|
1.000 | 0.080 | 17 | 7674239 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 |