| 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 | 0.040 | 2 | 145678654 | intron variant | -/C | ins | 0.16 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 2 | 148671610 | intron variant | T/- | del | 3.1E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 8 | 125236380 | intron variant | TC/- | del |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 5 | 140776321 | intergenic variant | T/- | del | 0.53 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 7 | 1985461 | intron variant | -/TC | delins | 0.57 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 4 | 54669212 | intron variant | CCC/-;C;CC;CCCC;CCCCC;CCCCCC | delins | 0.44 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 3 | 17846143 | intron variant | -/T | delins | 0.53 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 21 | 14869414 | intron variant | A/-;AA;AAA | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.040 | 2 | 39936810 | intron variant | AT/-;ATAT | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 8 | 4323090 | intron variant | A/-;AA;AAA | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 7 | 24737471 | intron variant | A/-;AA | delins | 0.15 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.040 | 7 | 125615031 | intergenic variant | CA/- | delins | 1.0E-05 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 15 | 80091637 | intron variant | AAAA/-;AA;AAA | delins | 4.3E-05 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 1 | 8364925 | intron variant | A/- | delins | 0.69 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 2 | 161972220 | intron variant | A/- | delins | 0.38 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 8 | 142238758 | intron variant | GCCCGCCCCTGCAC/-;GCCCGCCCCTGCACGCCCGCCCCTGCAC | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 18 | 55081986 | intergenic variant | A/-;AA | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 8 | 38163492 | 3 prime UTR variant | -/T | delins | 0.20 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 7 | 86798310 | intron variant | G/A | snv | 8.9E-02 |
|
0.720 | 0.900 | 8 | 2014 | 2019 | ||||||||
|
1.000 | 0.040 | 11 | 124744061 | intron variant | G/A | snv | 0.43 |
|
0.700 | 1.000 | 8 | 2014 | 2019 | ||||||||
|
1.000 | 0.040 | 22 | 41191552 | intron variant | T/A | snv | 0.23 |
|
0.710 | 1.000 | 8 | 2014 | 2019 | ||||||||
|
1.000 | 0.040 | 5 | 154301187 | intron variant | A/T | snv | 0.37 |
|
0.700 | 1.000 | 7 | 2014 | 2019 | ||||||||
|
0.925 | 0.040 | 11 | 113522272 | regulatory region variant | C/T | snv | 0.26 |
|
0.740 | 1.000 | 7 | 2014 | 2019 | ||||||||
|
1.000 | 0.040 | 7 | 137390098 | 3 prime UTR variant | T/C | snv | 0.29 |
|
0.700 | 1.000 | 7 | 2014 | 2019 | ||||||||
|
1.000 | 0.040 | 8 | 142231572 | intron variant | A/C | snv | 0.68 |
|
0.810 | 1.000 | 7 | 2013 | 2019 |