| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.200 | 1 | 215845898 | stop gained | C/T | snv | 1.6E-05 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
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 | |||||||
|
0.827 | 0.080 | 1 | 68444858 | missense variant | G/A | snv | 5.6E-05 | 6.3E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.080 | 1 | 197427615 | missense variant | C/G;T | snv | 4.0E-06; 7.6E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.080 | 1 | 197434706 | missense variant | G/A | snv | 2.1E-04 | 2.2E-04 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.080 | 1 | 197328961 | frameshift variant | ATAGGAA/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
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 | |||||||
|
0.882 | 0.080 | 1 | 68438213 | missense variant | A/G | snv | 6.8E-05 | 7.7E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.200 | 1 | 216175368 | frameshift variant | -/T | delins | 1.2E-05; 4.0E-06 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2000 | 2000 | |||||||
|
1.000 | 0.080 | 1 | 215743285 | stop gained | C/A | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.200 | 1 | 216196582 | stop gained | G/A | snv | 6.0E-05 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.925 | 0.080 | 1 | 93997842 | splice region variant | GCCCCAGGGCCAACT/- | delins | 6.8E-05 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.200 | 1 | 215674595 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.200 | 1 | 216086749 | stop gained | G/A | snv | 1.6E-05 | 2.8E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 1 | 197435539 | stop gained | G/A;T | snv | 2.0E-05 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
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 | 215674580 | missense variant | G/A;C | snv | 1.6E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.200 | 1 | 216422237 | stop gained | G/A | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
1.000 | 0.080 | 1 | 94055161 | missense variant | T/A | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.200 | 1 | 215728220 | frameshift variant | GT/- | delins | 4.0E-06 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.827 | 0.200 | 1 | 215891198 | intron variant | T/C | snv | 4.2E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 1 | 94044736 | frameshift variant | A/- | del |
|
0.700 | 1.000 | 1 | 2015 | 2015 |