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 | 0.080 | 11 | 108138934 | missense variant | A/C;G | snv | 4.0E-06; 6.0E-05 |
|
0.810 | 0.833 | 6 | 1991 | 2019 | ||||||||
|
1.000 | 0.080 | 11 | 108144039 | missense variant | G/C | snv | 7.4E-06 |
|
0.810 | 1.000 | 5 | 1991 | 2019 | ||||||||
|
1.000 | 0.080 | 11 | 108138917 | missense variant | G/C | snv | 6.0E-05 | 6.3E-05 |
|
0.800 | 1.000 | 7 | 1991 | 2019 | |||||||
|
1.000 | 0.080 | 11 | 108146334 | missense variant | G/A | snv |
|
0.800 | 1.000 | 5 | 1991 | 2019 | |||||||||
|
1.000 | 0.080 | 11 | 108139009 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 |
|
0.800 | 1.000 | 5 | 1991 | 2019 | |||||||
|
1.000 | 0.080 | 11 | 108146332 | missense variant | G/T | snv | 7.0E-06 |
|
0.800 | 1.000 | 5 | 1991 | 2019 | ||||||||
|
1.000 | 0.080 | 11 | 108134260 | missense variant | A/G | snv |
|
0.800 | 1.000 | 5 | 1991 | 2019 | |||||||||
|
1.000 | 0.080 | 11 | 108142545 | missense variant | T/C;G | snv | 1.6E-05; 4.0E-06 |
|
0.800 | 1.000 | 5 | 1991 | 2019 | ||||||||
|
1.000 | 0.080 | 11 | 108142500 | missense variant | C/A;T | snv | 4.0E-06; 1.2E-05 |
|
0.800 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 11 | 108140107 | stop gained | C/A;T | snv | 8.0E-06; 1.2E-05 |
|
0.710 | 1.000 | 3 | 2010 | 2019 | ||||||||
|
1.000 | 0.080 | 11 | 108141701 | splice donor variant | G/T | snv | 8.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 7 | 1992 | 2019 | |||||||
|
1.000 | 0.080 | 11 | 108138935 | missense variant | A/G | snv | 3.1E-04 | 3.5E-05 |
|
0.700 | 1.000 | 5 | 1995 | 2019 | |||||||
|
1.000 | 0.080 | 11 | 108146200 | splice acceptor variant | A/C | snv | 2.8E-05 | 2.8E-05 |
|
0.700 | 1.000 | 4 | 1992 | 2019 | |||||||
|
1.000 | 0.080 | 11 | 108121653 | frameshift variant | -/C | delins | 2.7E-05 |
|
0.700 | 1.000 | 3 | 2004 | 2019 | ||||||||
|
1.000 | 0.080 | 11 | 108141688 | stop gained | C/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 2 | 1994 | 2019 | ||||||||
|
1.000 | 0.080 | 11 | 108146356 | missense variant | T/A;C | snv | 4.0E-06; 1.6E-05 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
1.000 | 0.080 | 11 | 108140138 | missense variant | C/T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
1.000 | 0.080 | 11 | 108146201 | splice acceptor variant | G/C | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 11 | 108146201 | splice acceptor variant | G/C | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 11 | 108146334 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 11 | 108146334 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 11 | 108139009 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 11 | 108121608 | start lost | T/A | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 11 | 108121608 | start lost | T/A | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 11 | 108121608 | start lost | T/A | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 |