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 | 12 | 49032761 | stop gained | G/A | snv | 0.700 | 1.000 | 25 | 1988 | 2017 | |||||||
|
1 | 12 | 109788404 | missense variant | A/C | snv | 0.700 | 1.000 | 24 | 1976 | 2017 | |||||||
|
2 | 3 | 41233416 | frameshift variant | G/- | delins | 0.700 | 1.000 | 22 | 1991 | 2017 | |||||||
|
2 | 11 | 118505003 | frameshift variant | GTTT/- | delins | 0.700 | 1.000 | 22 | 1989 | 2017 | |||||||
|
1 | 15 | 40936659 | frameshift variant | CGGACGACGGC/- | delins | 0.700 | 1.000 | 22 | 1996 | 2013 | |||||||
|
1 | 6 | 157184262 | frameshift variant | C/- | del | 0.700 | 1.000 | 20 | 1984 | 2017 | |||||||
|
1 | 8 | 60850514 | missense variant | T/G | snv | 0.700 | 1.000 | 20 | 1999 | 2016 | |||||||
|
1 | 8 | 60852866 | frameshift variant | AG/- | delins | 0.700 | 1.000 | 20 | 1999 | 2016 | |||||||
|
1 | 8 | 60856559 | frameshift variant | -/T | delins | 0.700 | 1.000 | 20 | 1999 | 2016 | |||||||
|
1 | 9 | 136523954 | stop gained | G/A | snv | 6.2E-06 | 0.700 | 1.000 | 19 | 1999 | 2019 | ||||||
|
1 | 3 | 38614067 | splice acceptor variant | C/G | snv | 0.700 | 1.000 | 19 | 1998 | 2014 | |||||||
|
1 | 9 | 136499244 | stop gained | G/A | snv | 0.700 | 1.000 | 19 | 1999 | 2019 | |||||||
|
1 | 22 | 41131612 | frameshift variant | -/T | delins | 0.700 | 1.000 | 19 | 1963 | 2016 | |||||||
|
2 | 1 | 23310702 | stop gained | G/A | snv | 0.700 | 1.000 | 18 | 1998 | 2014 | |||||||
|
2 | 6 | 33438527 | frameshift variant | A/- | del | 0.700 | 1.000 | 18 | 2004 | 2017 | |||||||
|
1 | 16 | 3744921 | stop gained | G/A | snv | 0.700 | 1.000 | 18 | 1963 | 2017 | |||||||
|
1 | 16 | 3757990 | frameshift variant | T/- | del | 0.700 | 1.000 | 18 | 1963 | 2017 | |||||||
|
1 | 21 | 37490194 | frameshift variant | AT/- | delins | 0.700 | 1.000 | 18 | 1990 | 2016 | |||||||
|
2 | 1 | 215845823 | coding sequence variant | C/- | delins | 0.700 | 1.000 | 15 | 2000 | 2015 | |||||||
|
1 | 17 | 44852563 | splice acceptor variant | C/T | snv | 0.700 | 1.000 | 15 | 2006 | 2017 | |||||||
|
1 | 2 | 178531129 | frameshift variant | C/- | delins | 0.700 | 1.000 | 14 | 1991 | 2014 | |||||||
|
2 | 11 | 77156991 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 13 | 1995 | 2011 | |||||
|
1 | 9 | 114167926 | frameshift variant | T/- | del | 0.700 | 1.000 | 13 | 1994 | 2017 | |||||||
|
1 | 9 | 114252621 | missense variant | G/A | snv | 0.700 | 1.000 | 13 | 1994 | 2017 | |||||||
|
1 | 12 | 6062953 | splice donor variant | C/A | snv | 0.700 | 1.000 | 13 | 1987 | 2015 |