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 | 75761153 | missense variant | T/C | snv | 0.800 | 1.000 | 19 | 1990 | 2012 | |||||
|
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 | 75740088 | missense variant | A/G | snv | 0.800 | 1.000 | 16 | 1990 | 2001 | |||||
|
1 | 1.000 | 0.080 | 1 | 75732879 | frameshift variant | -/T | delins | 0.700 | 1.000 | 7 | 2001 | 2012 | |||||
|
1 | 1.000 | 0.080 | 1 | 75734833 | frameshift variant | AGTA/- | delins | 0.700 | 1.000 | 6 | 2004 | 2017 | |||||
|
1 | 1.000 | 0.080 | 1 | 75733625 | splice donor variant | G/- | delins | 0.700 | 1.000 | 5 | 2005 | 2012 | |||||
|
1 | 1.000 | 0.080 | 1 | 75734827 | inframe deletion | AAG/- | delins | 0.700 | 1.000 | 5 | 2010 | 2017 | |||||
|
1 | 1.000 | 0.080 | 1 | 75734849 | frameshift variant | CTGA/- | delins | 0.700 | 1.000 | 4 | 2005 | 2015 | |||||
|
1 | 1.000 | 0.080 | 1 | 75761366 | missense variant | A/C | snv | 0.700 | 1.000 | 3 | 2007 | 2016 | |||||
|
1 | 1.000 | 0.080 | 1 | 75761276 | frameshift variant | TTAG/- | delins | 0.700 | 1.000 | 3 | 1992 | 2010 | |||||
|
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 | 75733526 | splice acceptor variant | A/G | snv | 0.700 | 1.000 | 2 | 2005 | 2010 | |||||
|
1 | 1.000 | 0.080 | 1 | 75761165 | frameshift variant | TTGAACTAGCTAGAATGAGTTA/- | del | 0.700 | 1.000 | 2 | 1994 | 2010 | |||||
|
1 | 1.000 | 0.080 | 1 | 75761289 | frameshift variant | -/G | delins | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
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 | 75761131 | frameshift variant | AT/- | delins | 0.700 | 1.000 | 1 | 1997 | 1997 | |||||
|
1 | 1.000 | 0.080 | 1 | 75750514 | stop gained | G/A;T | snv | 0.710 | 1.000 | 1 | 2001 | 2001 | |||||
|
49 | 0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
52 | 0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 1 | 75749427 | missense variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 7 | 150957434 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
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 | 75761125 | stop gained | C/T | snv | 0.700 | 0 |