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 | 0.280 | 3 | 114350310 | missense variant | T/G | snv |
|
0.800 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.280 | 3 | 114350291 | missense variant | T/C | snv |
|
0.800 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.280 | 3 | 114339426 | missense variant | C/G | snv |
|
0.800 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.280 | 3 | 114339370 | missense variant | G/A | snv |
|
0.800 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.827 | 0.120 | 3 | 114643917 | intron variant | C/G;T | snv |
|
0.720 | 0.667 | 1 | 2011 | 2016 | |||||||||
|
0.827 | 0.120 | 3 | 114643917 | intron variant | C/G;T | snv |
|
0.720 | 0.667 | 1 | 2011 | 2016 | |||||||||
|
1.000 | 3 | 114350821 | frameshift variant | -/C | delins |
|
0.700 | 1.000 | 7 | 2009 | 2017 | ||||||||||
|
1.000 | 3 | 114350821 | frameshift variant | -/C | delins |
|
0.700 | 1.000 | 7 | 2009 | 2017 | ||||||||||
|
0.776 | 0.080 | 3 | 114402172 | intron variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.776 | 0.080 | 3 | 114402172 | intron variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.776 | 0.080 | 3 | 114402172 | intron variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.776 | 0.080 | 3 | 114402172 | intron variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.776 | 0.080 | 3 | 114402172 | intron variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.776 | 0.080 | 3 | 114402172 | intron variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.776 | 0.080 | 3 | 114402172 | intron variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.776 | 0.080 | 3 | 114402172 | intron variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.776 | 0.080 | 3 | 114402172 | intron variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.776 | 0.080 | 3 | 114402172 | intron variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
3 | 114983210 | intron variant | A/G | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
0.882 | 0.040 | 3 | 114997018 | intron variant | C/T | snv | 4.7E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.040 | 3 | 114997018 | intron variant | C/T | snv | 4.7E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.040 | 3 | 114997018 | intron variant | C/T | snv | 4.7E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
3 | 114495764 | intron variant | C/A | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
3 | 114698828 | intron variant | A/G | snv | 5.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
3 | 114680449 | intron variant | G/A | snv | 5.7E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |