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 | 1 | 75761289 | frameshift variant | -/G | delins | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 1 | 75761221 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75732860 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75761135 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 75761125 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75724788 | start lost | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75732742 | splice donor variant | G/T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 1 | 75733629 | splice donor variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2001 | 2015 | |||||
|
1 | 1.000 | 0.080 | 1 | 75761131 | frameshift variant | AT/- | delins | 0.700 | 1.000 | 1 | 1997 | 1997 | |||||
|
1 | 1.000 | 0.080 | 1 | 75732694 | frameshift variant | AG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75734833 | frameshift variant | AGTA/- | delins | 0.700 | 1.000 | 6 | 2004 | 2017 | |||||
|
1 | 1.000 | 0.080 | 1 | 75761247 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 75733526 | splice acceptor variant | A/G | snv | 0.700 | 1.000 | 2 | 2005 | 2010 | |||||
|
1 | 1.000 | 0.080 | 1 | 75728489 | splice donor variant | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 75749509 | missense variant | G/A | snv | 2.1E-04 | 1.3E-04 | 0.800 | 1.000 | 26 | 1990 | 2015 | |||
|
1 | 1.000 | 0.080 | 1 | 75761300 | missense variant | T/C | snv | 7.0E-06 | 0.800 | 1.000 | 16 | 1990 | 2001 | ||||
|
1 | 1.000 | 0.080 | 1 | 75749440 | missense variant | T/C | snv | 0.800 | 1.000 | 16 | 1990 | 2001 | |||||
|
1 | 1.000 | 0.080 | 1 | 75734850 | missense variant | G/A;T | snv | 8.0E-06 | 0.800 | 1.000 | 16 | 1990 | 2001 | ||||
|
3 | 0.882 | 0.120 | 1 | 75740094 | missense variant | G/A | snv | 4.0E-05 | 7.0E-05 | 0.810 | 1.000 | 21 | 1990 | 2015 | |||
|
1 | 1.000 | 0.080 | 1 | 75740088 | missense variant | A/G | snv | 0.800 | 1.000 | 16 | 1990 | 2001 | |||||
|
1 | 1.000 | 0.080 | 1 | 75732724 | missense variant | T/C | snv | 5.0E-04 | 7.1E-04 | 0.800 | 1.000 | 33 | 1990 | 2016 | |||
|
1 | 1.000 | 0.080 | 1 | 75749444 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 0.800 | 1.000 | 20 | 1990 | 2013 | |||
|
1 | 1.000 | 0.080 | 1 | 75749552 | missense variant | G/C | snv | 4.0E-06 | 0.800 | 1.000 | 16 | 1990 | 2001 | ||||
|
1 | 1.000 | 0.080 | 1 | 75733603 | missense variant | C/T | snv | 1.2E-05 | 0.800 | 1.000 | 17 | 1990 | 2007 | ||||
|
1 | 1.000 | 0.080 | 1 | 75750514 | stop gained | G/A;T | snv | 0.710 | 1.000 | 1 | 2001 | 2001 |