| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 107663430 | missense variant | T/C | snv | 1.4E-05 |
|
0.700 | 0 | |||||||||||||
|
2 | 26476319 | splice acceptor variant | T/C | snv |
|
0.700 | 0 | ||||||||||||||
|
5 | 146339801 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||||
|
10 | 26125584 | missense variant | T/G | snv |
|
0.700 | 0 | ||||||||||||||
|
17 | 74919981 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||||
|
17 | 74920522 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||||
|
X | 83508802 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||||
|
13 | 20189108 | stop gained | G/A;C | snv | 1.2E-05 |
|
0.700 | 0 | |||||||||||||
|
5 | 90627593 | missense variant | C/T | snv | 2.8E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||||
|
7 | 107700161 | missense variant | T/C;G | snv | 1.2E-05; 8.0E-06 |
|
0.700 | 0 | |||||||||||||
|
0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.672 | 0.400 | 13 | 20189511 | stop gained | C/T | snv | 5.8E-04 | 1.1E-04 |
|
0.710 | 1.000 | 0 | 2019 | 2019 | |||||||
|
0.683 | 0.640 | 9 | 137798823 | missense variant | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.689 | 0.480 | 7 | 92501562 | missense variant | C/T | snv | 3.2E-04 | 3.5E-04 |
|
0.700 | 0 | ||||||||||
|
0.695 | 0.440 | 13 | 20189313 | missense variant | A/G | snv | 6.4E-04 | 6.4E-04 |
|
0.720 | 1.000 | 0 | 2005 | 2007 | |||||||
|
0.708 | 0.440 | 13 | 20189473 | missense variant | C/A;T | snv | 7.7E-03 |
|
0.800 | 0.900 | 0 | 2004 | 2017 | ||||||||
|
0.716 | 0.520 | 16 | 23607891 | frameshift variant | T/- | del | 2.1E-05 |
|
0.700 | 0 | |||||||||||
|
0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 |
|
0.700 | 0 | |||||||||||
|
0.732 | 0.520 | 20 | 32433408 | stop gained | C/T | snv | 2.0E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.732 | 0.280 | 13 | 20189547 | frameshift variant | C/-;CC | delins | 6.4E-03 |
|
0.700 | 0 | |||||||||||
|
0.742 | 0.280 | 13 | 20189548 | missense variant | C/A;G | snv | 5.1E-04 |
|
0.700 | 0 | |||||||||||
|
0.742 | 0.440 | 1 | 40290871 | frameshift variant | T/-;TT | delins |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.360 | 11 | 119081189 | missense variant | T/G | snv | 1.2E-04 | 5.6E-05 |
|
0.700 | 0 | ||||||||||
|
0.752 | 0.360 | 6 | 157181137 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.280 | 13 | 20189031 | missense variant | C/G;T | snv | 6.0E-05 |
|
0.730 | 0.667 | 0 | 2010 | 2017 |