| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 15 | 72350584 | missense variant | G/A | snv | 1.5E-03 | 1.9E-03 |
|
0.020 | 1.000 | 2 | 1992 | 1993 | |||||||
|
0.925 | 0.160 | 15 | 72346579 | frameshift variant | -/GATA | delins | 4.0E-06; 8.0E-04 | 4.5E-04 |
|
0.710 | 1.000 | 26 | 1988 | 2019 | |||||||
|
1.000 | 0.120 | 15 | 72348047 | splice donor variant | C/A;G;T | snv | 2.2E-04 |
|
0.700 | 1.000 | 12 | 1991 | 2016 | ||||||||
|
0.807 | 0.120 | 15 | 72350518 | missense variant | C/G;T | snv | 1.3E-04 |
|
0.830 | 1.000 | 30 | 1988 | 2016 | ||||||||
|
1.000 | 0.120 | 15 | 72346234 | splice donor variant | C/A;G | snv | 1.2E-04 | 2.1E-05 |
|
0.700 | 1.000 | 8 | 1988 | 2005 | |||||||
|
0.925 | 0.160 | 15 | 72346679 | missense variant | C/G;T | snv | 1.0E-04 |
|
0.800 | 1.000 | 22 | 1988 | 2016 | ||||||||
|
1.000 | 0.120 | 15 | 72346552 | synonymous variant | G/A | snv | 8.0E-05 | 1.0E-04 |
|
0.700 | 1.000 | 3 | 2010 | 2014 | |||||||
|
0.882 | 0.120 | 15 | 72346661 | missense variant | T/A;C;G | snv | 7.6E-05; 1.6E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 15 | 72345476 | missense variant | C/T | snv | 5.6E-05 | 3.5E-05 |
|
0.800 | 1.000 | 34 | 1988 | 2016 | |||||||
|
1.000 | 0.120 | 15 | 72349135 | frameshift variant | AG/- | delins | 5.2E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 15 | 72353105 | missense variant | C/A;G;T | snv | 4.8E-05 |
|
0.820 | 1.000 | 29 | 1988 | 2016 | ||||||||
|
1.000 | 0.120 | 15 | 72353686 | splice region variant | C/T | snv | 2.8E-05 | 9.1E-05 |
|
0.700 | 1.000 | 5 | 1991 | 2014 | |||||||
|
1.000 | 0.120 | 15 | 72351218 | missense variant | T/C | snv | 2.8E-05 | 7.0E-06 |
|
0.700 | 1.000 | 20 | 1988 | 2016 | |||||||
|
1.000 | 0.120 | 15 | 72351207 | missense variant | C/T | snv | 2.8E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 15 | 72349266 | splice region variant | C/T | snv | 2.4E-05 | 6.3E-05 |
|
0.700 | 1.000 | 2 | 1997 | 2016 | |||||||
|
1.000 | 0.120 | 15 | 72355562 | stop gained | G/A | snv | 2.4E-05; 4.0E-06 | 3.5E-05 |
|
0.700 | 1.000 | 4 | 1992 | 2012 | |||||||
|
1.000 | 0.120 | 15 | 72345462 | missense variant | G/A | snv | 2.4E-05 | 7.0E-06 |
|
0.800 | 1.000 | 31 | 1984 | 2016 | |||||||
|
1.000 | 0.120 | 15 | 72350568 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 |
|
0.700 | 1.000 | 20 | 1988 | 2016 | |||||||
|
0.851 | 0.160 | 15 | 72353106 | missense variant | G/A | snv | 2.0E-05 |
|
0.800 | 1.000 | 23 | 1988 | 2016 | ||||||||
|
1.000 | 0.120 | 15 | 72351235 | splice acceptor variant | C/A | snv | 2.0E-05 |
|
0.700 | 1.000 | 5 | 1991 | 2003 | ||||||||
|
1.000 | 0.120 | 15 | 72353179 | splice acceptor variant | C/A;T | snv | 1.6E-05 |
|
0.700 | 1.000 | 2 | 1991 | 2015 | ||||||||
|
1.000 | 0.120 | 15 | 72349076 | splice region variant | T/C | snv | 1.6E-05 | 4.2E-05 |
|
0.700 | 1.000 | 5 | 1995 | 2014 | |||||||
|
1.000 | 0.120 | 15 | 72349163 | missense variant | A/C | snv | 1.6E-05 | 7.0E-06 |
|
0.700 | 1.000 | 20 | 1988 | 2016 | |||||||
|
1.000 | 0.120 | 15 | 72351189 | missense variant | C/G;T | snv | 1.6E-05 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 15 | 72345550 | missense variant | C/G | snv | 1.2E-05 | 7.0E-06 |
|
0.710 | 1.000 | 20 | 1988 | 2016 |