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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 11 | 128810638 | missense variant | C/T | snv |
|
0.800 | 0 | |||||||||||||
|
1.000 | 11 | 128810657 | missense variant | A/G | snv |
|
0.800 | 0 | |||||||||||||
|
0.882 | 0.080 | 11 | 128810639 | missense variant | G/A | snv |
|
0.800 | 0 | ||||||||||||
|
0.925 | 0.040 | 11 | 128810662 | missense variant | A/G | snv |
|
0.800 | 0 | ||||||||||||
|
1.000 | 11 | 128810599 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.800 | 0 | ||||||||||||
|
0.882 | 0.080 | 11 | 128810639 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
11 | 128695139 | intron variant | C/T | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
11 | 128723386 | intron variant | A/G | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 11 | 128714425 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 11 | 128762660 | intron variant | T/C | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
11 | 128797907 | intron variant | C/T | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 128716260 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
11 | 128716260 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
1.000 | 0.040 | 11 | 128712662 | intron variant | T/C | snv | 6.5E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
11 | 128794013 | intron variant | G/T | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 128692203 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 11 | 128810620 | frameshift variant | ATTA/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 11 | 128810620 | frameshift variant | ATTA/- | delins |
|
0.700 | 0 | |||||||||||||
|
0.882 | 0.080 | 11 | 128810639 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.040 | 11 | 128810662 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 11 | 128810761 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 11 | 128694899 | intron variant | A/C;T | snv | 0.71 |
|
0.010 | 1.000 | 1 | 2011 | 2011 |