| 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 | ||||||||||||
|
0.882 | 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 | ||||||||
|
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 | ||||||||
|
1.000 | 0.080 | 17 | 7674239 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
1.000 | 0.080 | 9 | 21367643 | missense variant | C/G;T | snv | 1.0E-05; 5.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
1.000 | 0.080 | 1 | 119743954 | missense variant | T/A | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.925 | 0.200 | 8 | 21909370 | missense variant | A/C | snv | 1.0E-02 | 7.9E-03 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
1.000 | 0.080 | 1 | 23521037 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.637 | 0.680 | 3 | 39265765 | missense variant | C/T | snv | 0.22 | 0.22 |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | |||||||
|
1.000 | 0.080 | 1 | 3507824 | missense variant | G/A | snv | 4.7E-02 | 6.1E-02 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
1.000 | 0.080 | 4 | 108000211 | intron variant | G/A | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 |
|
0.010 | 1.000 | 1 | 2006 | 2006 |