| 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 | 6 | 44304512 | missense variant | G/A | snv | 2.1E-04 | 2.4E-04 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
6 | 44304659 | missense variant | G/A;C | snv | 3.6E-05; 2.8E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
12 | 21887879 | stop gained | G/A | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
12 | 21912871 | splice donor variant | C/T | snv |
|
0.700 | 0 | ||||||||||||||
|
12 | 21852457 | stop gained | G/A | snv | 1.6E-05 |
|
0.700 | 0 | |||||||||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
0.020 | < 0.001 | 2 | 1997 | 1999 | ||||||||
|
0.882 | 0.080 | 15 | 34791163 | missense variant | C/T | snv | 8.0E-06 | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.080 | 15 | 34793326 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
15 | 34792158 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||||
|
0.790 | 0.080 | 15 | 34793398 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 1 | 99870764 | stop gained | C/T | snv | 8.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 |
|
0.020 | < 0.001 | 2 | 1997 | 1999 | |||||||
|
0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 |
|
0.010 | < 0.001 | 1 | 1997 | 1997 | |||||||
|
15 | 84840691 | frameshift variant | C/-;CC | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
0.882 | 0.240 | 18 | 26862297 | missense variant | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.120 | 1 | 1529299 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.776 | 0.160 | 10 | 119672373 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
11 | 66003356 | missense variant | G/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.200 | 11 | 105029658 | splice region variant | C/T | snv | 0.17 | 0.15 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
9 | 100585774 | missense variant | C/G;T | snv | 8.0E-06; 3.6E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.882 | 0.160 | 21 | 36146408 | missense variant | G/A | snv | 0.37 | 0.39 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
18 | 37497065 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
0.925 | 0.120 | 13 | 110179298 | missense variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.120 | 19 | 35651301 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.200 | 1 | 53210776 | missense variant | G/A | snv | 0.49 | 0.46 |
|
0.010 | 1.000 | 1 | 1992 | 1992 |