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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.160 | 13 | 51949764 | missense variant | A/C;G;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 13 | 51937354 | frameshift variant | TG/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 13 | 51937349 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 13 | 51970663 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 13 | 51958509 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 13 | 51941108 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 13 | 51975117 | stop gained | T/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 13 | 51957515 | splice donor variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 13 | 51937579 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 13 | 51965035 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 13 | 51970697 | frameshift variant | -/AA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 13 | 51975169 | splice acceptor variant | C/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 13 | 51974830 | frameshift variant | -/GC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 13 | 51970658 | frameshift variant | CACT/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 13 | 51944116 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 13 | 51937305 | missense variant | T/G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 13 | 51935660 | missense variant | A/G | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 13 | 51964924 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 13 | 51958443 | stop gained | -/T | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 13 | 51949765 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 13 | 51937577 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 13 | 51941110 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 13 | 51958545 | splice acceptor variant | C/G;T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 13 | 51941178 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 13 | 51937315 | missense variant | C/T | snv | 0.700 | 0 |