Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.080 | 11 | 108146201 | splice acceptor variant | G/C | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.080 | 11 | 108146334 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.080 | 11 | 108139009 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 1.000 | 0.080 | 11 | 108121608 | start lost | T/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.080 | 11 | 108146332 | missense variant | G/T | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 11 | 108141688 | stop gained | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 11 | 108134260 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.080 | 11 | 108142545 | missense variant | T/C;G | snv | 1.6E-05; 4.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 11 | 108144039 | missense variant | G/C | snv | 7.4E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 11 | 108135240 | missense variant | C/G | snv | 1.2E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 11 | 108146361 | splice donor variant | T/C | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.080 | 11 | 108146200 | splice acceptor variant | A/C | snv | 2.8E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 1.000 | 0.080 | 11 | 108121653 | frameshift variant | -/C | delins | 2.7E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 11 | 108138934 | missense variant | A/C;G | snv | 4.0E-06; 6.0E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 11 | 108138935 | missense variant | A/G | snv | 3.1E-04 | 3.5E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 1.000 | 0.080 | 11 | 108140108 | missense variant | G/A | snv | 1.2E-05 | 4.2E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 1.000 | 0.080 | 11 | 108146227 | inframe deletion | AGA/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.080 | 11 | 108146278 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.080 | 11 | 108140107 | stop gained | C/A;T | snv | 8.0E-06; 1.2E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 11 | 108141701 | splice donor variant | G/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 1.000 | 0.080 | 11 | 108146356 | missense variant | T/A;C | snv | 4.0E-06; 1.6E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.080 | 11 | 108138917 | missense variant | G/C | snv | 6.0E-05 | 6.3E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 1.000 | 0.080 | 11 | 108133848 | frameshift variant | C/- | del | 4.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 11 | 108146228 | frameshift variant | GA/- | delins | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 1.000 | 0.080 | 11 | 108140138 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |