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 | 0.080 | X | 70027947 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 70030491 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
14 | 0.790 | 0.160 | X | 69616488 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 69616514 | missense variant | G/T | snv | 2.9E-03 | 3.1E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | X | 69616495 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 70027956 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 70028001 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 69616491 | stop gained | C/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | X | 70035505 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.120 | X | 70035446 | missense variant | C/T | snv | 5.5E-06 | 9.6E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | X | 69957088 | missense variant | G/A | snv | 2.7E-03 | 1.2E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | X | 69616536 | frameshift variant | CCGCCTT/AA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 69616545 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 70023236 | frameshift variant | AA/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 70027887 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 70027924 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 70027958 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 70028008 | frameshift variant | ACCCCCTGGCCTCCAGG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 70035533 | frameshift variant | C/TCAAGATGG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 69616707 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 69957088 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 70027903 | frameshift variant | -/T | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 70033513 | frameshift variant | -/TA | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | X | 70033430 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 69616579 | frameshift variant | -/G | delins | 0.700 | 0 |