| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.080 | 1 | 94063250 | missense variant | A/G | snv | 1.5E-04 | 1.7E-04 |
|
0.700 | 1.000 | 2 | 1998 | 2019 | |||||||
|
1.000 | 0.080 | 1 | 94063315 | stop gained | G/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.851 | 0.080 | 1 | 94010821 | missense variant | C/T | snv | 1.6E-03 | 1.5E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.080 | 1 | 94011395 | intron variant | A/G | snv | 2.3E-04 | 3.0E-04 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.080 | 1 | 94046943 | missense variant | T/C | snv | 1.4E-04 | 7.7E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.080 | 1 | 94029447 | frameshift variant | G/-;GG | delins | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.882 | 0.080 | 1 | 94001992 | missense variant | C/G | snv | 3.0E-03 | 3.0E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 1 | 94046922 | missense variant | G/A;T | snv | 2.0E-05; 3.6E-05 |
|
0.700 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.776 | 0.160 | 1 | 94043413 | missense variant | G/A | snv | 1.7E-03 | 1.7E-03 |
|
0.710 | 1.000 | 1 | 2008 | 2019 | |||||||
|
0.882 | 0.080 | 1 | 94041367 | missense variant | C/T | snv | 2.4E-05 | 2.1E-05 |
|
0.700 | 1.000 | 1 | 1999 | 1999 | |||||||
|
0.807 | 0.080 | 1 | 94098794 | splice region variant | C/A | snv | 8.8E-05 | 6.3E-05 |
|
0.710 | 1.000 | 1 | 2004 | 2019 | |||||||
|
0.925 | 0.080 | 1 | 93997842 | splice region variant | GCCCCAGGGCCAACT/- | delins | 6.8E-05 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.080 | 1 | 94051698 | missense variant | C/G;T | snv | 4.4E-03; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 1 | 94055161 | missense variant | T/A | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 1 | 94044736 | frameshift variant | A/- | del |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.080 | 1 | 94008300 | splice region variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 1 | 94021235 | splice region variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 1 | 94007710 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 1 | 94014542 | splice donor variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 6 | 135429945 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 6 | 135433081 | stop gained | G/A | snv | 1.2E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 6 | 135433119 | stop gained | C/T | snv | 1.6E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.280 | 6 | 135404951 | frameshift variant | T/- | delins | 5.9E-04 | 4.9E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 6 | 135428682 | stop gained | -/CT | ins | 8.2E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 6 | 135394853 | stop gained | G/C | snv | 6.4E-05 | 4.9E-05 |
|
0.700 | 0 |