| 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 | 0.200 | 17 | 43091614 | frameshift variant | AA/- | del |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | 13 | 32362574 | stop gained | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.280 | 13 | 32333284 | frameshift variant | A/-;AA | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | 13 | 32340837 | frameshift variant | ACAA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 13 | 32332429 | frameshift variant | A/-;AA | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 22 | 28710005 | splice donor variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 6 | 36684381 | missense variant | C/T | snv | 8.1E-06 |
|
0.010 | 1.000 | 1 | 1996 | 1996 | ||||||||
|
0.851 | 0.160 | 17 | 43093010 | missense variant | G/A | snv | 1.7E-03 | 1.4E-03 |
|
0.010 | 1.000 | 1 | 1996 | 1996 | |||||||
|
1.000 | 0.080 | 7 | 100856990 | missense variant | C/T | snv | 2.0E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 1996 | 1996 | |||||||
|
0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 |
|
0.100 | 0.862 | 29 | 1997 | 2019 | |||||||
|
0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv |
|
0.030 | 1.000 | 3 | 1997 | 2019 | |||||||||
|
0.641 | 0.440 | 17 | 7674888 | missense variant | T/C;G | snv |
|
0.030 | 1.000 | 3 | 1997 | 2019 | |||||||||
|
0.689 | 0.400 | 6 | 36684194 | missense variant | C/A;T | snv | 0.15; 4.4E-05 |
|
0.020 | 1.000 | 2 | 1997 | 2006 | ||||||||
|
0.763 | 0.320 | 11 | 108329202 | missense variant | T/G | snv | 4.0E-05 | 6.3E-05 |
|
0.080 | 0.875 | 8 | 1998 | 2016 | |||||||
|
0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins |
|
0.020 | 0.500 | 2 | 1998 | 1999 | |||||||||
|
0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 |
|
0.020 | 0.500 | 2 | 1998 | 1999 | |||||||
|
0.851 | 0.160 | 12 | 913403 | stop gained | A/C | snv | 3.5E-02 | 2.1E-02 |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||
|
0.882 | 0.080 | 17 | 43074454 | stop gained | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 |
|
0.100 | 0.895 | 38 | 2000 | 2018 | ||||||||
|
0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 |
|
0.100 | 0.800 | 30 | 2000 | 2019 | |||||||
|
0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 |
|
0.100 | 0.923 | 13 | 2000 | 2017 | |||||||
|
0.925 | 0.080 | 3 | 37020444 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
0.851 | 0.120 | 2 | 47799002 | missense variant | T/C | snv | 3.6E-05 | 5.6E-05 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
0.851 | 0.200 | 13 | 32316462 | start lost | T/A;C;G | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.100 | 0.878 | 49 | 2001 | 2019 |