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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.040 | 6 | 31356838 | missense variant | C/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.040 | 6 | 31354782 | non coding transcript exon variant | G/A | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
6 | 31270541 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
0.925 | 0.120 | 6 | 31301396 | intron variant | G/A | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
6 | 31274397 | intron variant | G/A | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 31354356 | intron variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
6 | 31307016 | intron variant | -/C | delins | 4.2E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 31272468 | intron variant | -/TC | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
6 | 31356750 | missense variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
6 | 31328592 | intron variant | A/C | snv | 1.2E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
6 | 31316290 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 0.040 | 6 | 31296356 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 6 | 31295745 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 6 | 31295733 | intron variant | T/C | snv | 0.81 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
6 | 31356979 | missense variant | G/A | snv | 3.6E-02 | 7.5E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
6 | 31285529 | intron variant | AA/-;A;AAA;AAAA | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
6 | 31347810 | intron variant | G/T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
0.851 | 0.200 | 6 | 31304484 | intron variant | C/T | snv | 0.81 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 6 | 31303790 | intron variant | A/G | snv | 0.80 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
6 | 31303299 | intron variant | G/C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
6 | 31329803 | intron variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
6 | 31347871 | intron variant | A/G | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.882 | 0.160 | 6 | 31297713 | intron variant | T/C | snv | 0.80 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
6 | 31279426 | intron variant | A/G;T | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
6 | 31351620 | intron variant | G/A | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |