| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.280 | 3 | 97787991 | frameshift variant | TAT/GAAAA | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 11 | 64807890 | splice region variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 3 | 149178537 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 1 | 146018352 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 1 | 146018661 | frameshift variant | G/- | del |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.320 | 16 | 8811153 | missense variant | G/A | snv | 4.1E-03 | 3.7E-03 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 3 | 149177980 | splice acceptor variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 11 | 17387594 | stop gained | G/C;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 11 | 17387407 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
11 | 17387104 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||||
|
0.882 | 0.240 | X | 24076757 | frameshift variant | TCAA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.160 | 7 | 117548795 | missense variant | C/A;T | snv | 5.3E-05; 5.7E-05 |
|
0.010 | 1.000 | 1 | 1995 | 1995 | ||||||||
|
0.925 | 0.080 | 7 | 44146584 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 1997 | 1997 | |||||||||
|
0.925 | 0.080 | 7 | 44153324 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 1998 | 1998 | ||||||||
|
11 | 5225612 | missense variant | G/A;C;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 1998 | 1998 | ||||||||||
|
0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 1999 | 1999 | ||||||||
|
0.732 | 0.200 | 18 | 60372043 | missense variant | C/T | snv | 1.6E-02 | 1.6E-02 |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||
|
0.807 | 0.120 | 1 | 226888977 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 1999 | 1999 | ||||||||
|
0.925 | 0.080 | 13 | 27920314 | missense variant | A/T | snv | 1.5E-05 | 1.4E-05 |
|
0.020 | 1.000 | 2 | 1999 | 2000 | |||||||
|
0.763 | 0.400 | 12 | 6044368 | missense variant | T/C;G | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.732 | 0.360 | 1 | 169707345 | missense variant | A/G | snv | 0.21 | 0.22 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
1.000 | 0.040 | 20 | 44413780 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
1.000 | 0.040 | 5 | 134114958 | missense variant | G/A | snv | 1.5E-05 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
1.000 | 0.040 | 12 | 120978923 | missense variant | G/C | snv | 2.0E-04 | 8.1E-04 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
1.000 | 0.040 | 13 | 27924267 | missense variant | G/A;T | snv | 2.1E-04; 4.2E-06 |
|
0.010 | 1.000 | 1 | 2000 | 2000 |