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 | 9 | 101424901 | splice acceptor variant | -/A | delins | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 9 | 101425539 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 9 | 101425030 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 9 | 101427580 | missense variant | A/C;G | snv | 4.0E-06; 2.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 9 | 101426567 | stop gained | A/C;T | snv | 7.0E-06 | 0.700 | 1.000 | 7 | 1993 | 2012 | ||||
|
1 | 1.000 | 0.080 | 9 | 101425566 | missense variant | A/G | snv | 0.700 | 1.000 | 11 | 1988 | 2010 | |||||
|
1 | 1.000 | 0.080 | 9 | 101421877 | missense variant | A/G | snv | 4.0E-06 | 2.1E-05 | 0.710 | 1.000 | 11 | 1988 | 2010 | |||
|
1 | 1.000 | 0.080 | 9 | 101425482 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 1.000 | 11 | 1988 | 2010 | ||||
|
1 | 1.000 | 0.080 | 9 | 101429858 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 1.000 | 11 | 1988 | 2010 | ||||
|
1 | 1.000 | 0.080 | 9 | 101429753 | splice donor variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 9 | 101424975 | inframe deletion | AAG/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 9 | 101426626 | inframe deletion | ACCAGT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 9 | 101430775 | splice donor variant | C/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 9 | 101425588 | missense variant | C/A | snv | 0.700 | 1.000 | 11 | 1988 | 2010 | |||||
|
1 | 1.000 | 0.080 | 9 | 101424878 | stop gained | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 9 | 101428468 | splice donor variant | C/A;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 9 | 101427574 | missense variant | C/G | snv | 3.0E-03 | 3.1E-03 | 0.700 | 1.000 | 16 | 1983 | 2017 | |||
|
1 | 1.000 | 0.080 | 9 | 101435708 | splice donor variant | C/G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 9 | 101421809 | stop lost | C/G | snv | 2.0E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 9 | 101424931 | missense variant | C/G;T | snv | 4.0E-06; 2.1E-04 | 0.700 | 1.000 | 3 | 2000 | 2013 | ||||
|
1 | 1.000 | 0.080 | 9 | 101429755 | splice region variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2002 | 2010 | ||||
|
1 | 1.000 | 0.080 | 9 | 101427578 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.080 | 9 | 101427643 | splice acceptor variant | C/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 9 | 101429754 | splice donor variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 9 | 101424954 | stop gained | C/T | snv | 0.700 | 0 |