| 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 | 247876149 | missense variant | C/T | snv | 0.31 | 0.26 |
|
0.800 | 1.000 | 3 | 2012 | 2018 | |||||||||
|
1 | 247876149 | missense variant | C/T | snv | 0.31 | 0.26 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1 | 247876149 | missense variant | C/T | snv | 0.31 | 0.26 |
|
0.700 | 1.000 | 3 | 2012 | 2019 | |||||||||
|
1 | 247876149 | missense variant | C/T | snv | 0.31 | 0.26 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | |||||||||
|
1 | 247876149 | missense variant | C/T | snv | 0.31 | 0.26 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | |||||||||
|
1 | 247876149 | missense variant | C/T | snv | 0.31 | 0.26 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | |||||||||
|
1 | 247876149 | missense variant | C/T | snv | 0.31 | 0.26 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
1 | 247875992 | missense variant | G/A | snv | 0.12 | 0.10 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1 | 247875992 | missense variant | G/A | snv | 0.12 | 0.10 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1 | 247868934 | intron variant | -/T | delins | 1.0E-01 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 247874908 | intron variant | G/A | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 247874908 | intron variant | G/A | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 247876149 | missense variant | C/T | snv | 0.31 | 0.26 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1 | 247876149 | missense variant | C/T | snv | 0.31 | 0.26 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1 | 247876149 | missense variant | C/T | snv | 0.31 | 0.26 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1 | 247876149 | missense variant | C/T | snv | 0.31 | 0.26 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1 | 247876149 | missense variant | C/T | snv | 0.31 | 0.26 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1 | 247876411 | synonymous variant | A/G | snv | 0.61 | 0.60 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1 | 247873252 | intron variant | G/A | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 247874910 | intron variant | G/A;T | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 247874910 | intron variant | G/A;T | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 247875023 | intron variant | T/C | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 247859368 | intron variant | A/G | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 247859368 | intron variant | A/G | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 247874688 | intron variant | G/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |