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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.120 | 2 | 233772413 | missense variant | T/A;C;G | snv | 2.2E-04 |
|
0.880 | 1.000 | 0 | 1993 | 2018 | ||||||||
|
0.827 | 0.120 | 2 | 233772413 | missense variant | T/A;C;G | snv | 2.2E-04 |
|
0.860 | 1.000 | 0 | 1995 | 2018 | ||||||||
|
0.925 | 0.080 | 2 | 233767092 | missense variant | G/A | snv | 1.2E-05 |
|
0.810 | 1.000 | 0 | 1992 | 2013 | ||||||||
|
1.000 | 0.080 | 2 | 233767922 | missense variant | A/G | snv | 4.0E-06 |
|
0.810 | 1.000 | 0 | 1992 | 2013 | ||||||||
|
1.000 | 0.080 | 2 | 233760331 | missense variant | T/G | snv |
|
0.800 | 1.000 | 0 | 1993 | 2013 | |||||||||
|
0.827 | 0.120 | 2 | 233772413 | missense variant | T/A;C;G | snv | 2.2E-04 |
|
0.800 | 1.000 | 0 | 2000 | 2000 | ||||||||
|
1.000 | 0.080 | 2 | 233767161 | missense variant | A/G | snv | 4.0E-06 | 2.1E-05 |
|
0.800 | 1.000 | 0 | 1993 | 2013 | |||||||
|
1.000 | 0.080 | 2 | 233768259 | missense variant | C/T | snv | 7.0E-06 |
|
0.800 | 1.000 | 0 | 1992 | 2013 | ||||||||
|
0.851 | 0.120 | 2 | 233768226 | missense variant | C/G;T | snv | 1.2E-03 |
|
0.710 | 1.000 | 0 | 2018 | 2018 | ||||||||
|
0.851 | 0.120 | 2 | 233768226 | missense variant | C/G;T | snv | 1.2E-03 |
|
0.710 | 1.000 | 0 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 2 | 233760509 | stop gained | C/A | snv | 4.0E-06 | 1.0E-04 |
|
0.710 | 1.000 | 0 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 2 | 233767873 | stop gained | C/G;T | snv | 4.0E-06; 2.8E-05 |
|
0.710 | 1.000 | 0 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 2 | 233760961 | missense variant | T/G | snv | 5.9E-04 | 3.6E-04 |
|
0.700 | 1.000 | 3 | 2000 | 2015 | |||||||
|
0.925 | 0.080 | 2 | 233767160 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 2 | 233767858 | missense variant | C/T | snv | 8.0E-06; 4.0E-06 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 2 | 233760895 | inframe deletion | CATGACCTTCCTGCAGCGGGTGAA/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 2 | 233761127 | stop gained | C/A;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 2 | 233768226 | missense variant | C/G;T | snv | 1.2E-03 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.120 | 2 | 233768226 | missense variant | C/G;T | snv | 1.2E-03 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.120 | 2 | 233768226 | missense variant | C/G;T | snv | 1.2E-03 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.120 | 2 | 233768226 | missense variant | C/G;T | snv | 1.2E-03 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.120 | 2 | 233772413 | missense variant | T/A;C;G | snv | 2.2E-04 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.120 | 2 | 233772413 | missense variant | T/A;C;G | snv | 2.2E-04 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.120 | 2 | 233772413 | missense variant | T/A;C;G | snv | 2.2E-04 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 2 | 233758936 | intron variant | A/C;G;T | snv |
|
0.700 | 0 |