| 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 | 0.080 | 1 | 179552614 | missense variant | C/T | snv | 4.0E-06 |
|
0.700 | 1.000 | 5 | 2002 | 2015 | ||||||||
|
0.925 | 0.080 | 1 | 179552602 | splice donor variant | C/T | snv |
|
0.700 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
0.925 | 0.080 | 1 | 179564795 | splice acceptor variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 1 | 179575616 | frameshift variant | C/- | del |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.080 | 1 | 179575698 | frameshift variant | -/C | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 1 | 179575763 | frameshift variant | T/CC | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 1 | 179575698 | frameshift variant | T/- | del |
|
0.700 | 0 | ||||||||||||
|
0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 1 | 179551435 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 7 | 2002 | 2015 | ||||||||
|
0.827 | 0.120 | 1 | 179552608 | missense variant | C/T | snv | 1.1E-04 | 1.1E-04 |
|
0.800 | 1.000 | 9 | 2002 | 2014 | |||||||
|
1.000 | 0.080 | 1 | 179557143 | missense variant | C/T | snv | 5.2E-05 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 1 | 179564779 | missense variant | C/T | snv | 3.6E-05 | 2.8E-05 |
|
0.700 | 1.000 | 14 | 2000 | 2015 | |||||||
|
0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 |
|
0.030 | 1.000 | 3 | 2015 | 2017 | ||||||||
|
0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 3 | 119782551 | intron variant | GAGAAG/-;GAGAAGGAGAAG | delins | 0.35 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 1 | 179559746 | frameshift variant | A/-;AA | delins |
|
0.700 | 1.000 | 7 | 2004 | 2017 | |||||||||
|
0.807 | 0.080 | 1 | 179559710 | missense variant | C/T | snv | 1.4E-05 |
|
0.800 | 1.000 | 24 | 2000 | 2015 | ||||||||
|
0.827 | 0.280 | 4 | 147539885 | synonymous variant | T/C | snv | 0.28 | 0.34 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 1 | 179575780 | missense variant | C/T | snv | 2.0E-05 | 2.4E-04 |
|
0.700 | 1.000 | 14 | 2000 | 2015 | |||||||
|
0.614 | 0.680 | 2 | 203867624 | upstream gene variant | C/T | snv | 6.7E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.701 | 0.240 | 1 | 179557079 | missense variant | C/T | snv | 3.0E-02 | 2.8E-02 |
|
0.810 | 1.000 | 20 | 2000 | 2015 | |||||||
|
0.763 | 0.120 | 1 | 179561327 | missense variant | C/T | snv | 6.0E-04 | 5.3E-04 |
|
0.800 | 1.000 | 24 | 2000 | 2018 | |||||||
|
0.851 | 0.080 | 1 | 179561328 | stop gained | G/A | snv | 1.6E-05 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.925 | 0.080 | 1 | 179575591 | missense variant | C/A;G;T | snv |
|
0.800 | 1.000 | 14 | 2000 | 2015 | |||||||||
|
0.925 | 0.080 | 1 | 179559734 | missense variant | T/A;C | snv |
|
0.800 | 1.000 | 14 | 2000 | 2015 |