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 | 9 | 128203597 | missense variant | G/A | snv | 0.700 | 1.000 | 38 | 1983 | 2017 | |||||||
|
1 | 19 | 41984940 | missense variant | T/C | snv | 0.700 | 1.000 | 27 | 1988 | 2017 | |||||||
|
1 | 9 | 137162184 | missense variant | A/C | snv | 0.700 | 1.000 | 25 | 1983 | 2017 | |||||||
|
1 | 3 | 41236468 | frameshift variant | AG/- | delins | 0.700 | 1.000 | 22 | 1991 | 2017 | |||||||
|
1 | 3 | 123330888 | splice donor variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 22 | 1992 | 2017 | |||||
|
1 | 2 | 199328831 | missense variant | A/C | snv | 0.700 | 1.000 | 21 | 1989 | 2017 | |||||||
|
1 | 6 | 157206240 | frameshift variant | A/- | delins | 0.700 | 1.000 | 20 | 1984 | 2017 | |||||||
|
1 | 8 | 60850623 | splice donor variant | G/A | snv | 0.700 | 1.000 | 20 | 1999 | 2016 | |||||||
|
1 | 17 | 50194591 | frameshift variant | AT/- | del | 0.700 | 1.000 | 20 | 1957 | 2017 | |||||||
|
1 | 22 | 41117361 | frameshift variant | C/- | delins | 0.700 | 1.000 | 19 | 1963 | 2016 | |||||||
|
1 | 22 | 41127646 | stop gained | C/T | snv | 0.700 | 1.000 | 19 | 1963 | 2016 | |||||||
|
1 | X | 154031215 | frameshift variant | -/T | delins | 0.700 | 1.000 | 19 | 1993 | 2016 | |||||||
|
1 | 6 | 33435150 | splice acceptor variant | A/G | snv | 0.700 | 1.000 | 18 | 2004 | 2017 | |||||||
|
1 | 6 | 33443961 | splice donor variant | G/A | snv | 0.700 | 1.000 | 18 | 2004 | 2017 | |||||||
|
1 | 6 | 33420307 | frameshift variant | G/- | del | 0.700 | 1.000 | 18 | 2004 | 2017 | |||||||
|
1 | 13 | 110170615 | missense variant | C/T | snv | 0.700 | 1.000 | 18 | 1984 | 2015 | |||||||
|
1 | 5 | 140114186 | frameshift variant | GACCG/- | delins | 0.700 | 1.000 | 17 | 1991 | 2018 | |||||||
|
1 | X | 18604030 | frameshift variant | AAACCTTGCTGGAG/- | delins | 0.700 | 1.000 | 17 | 2004 | 2016 | |||||||
|
1 | X | 41344238 | splice acceptor variant | G/C;T | snv | 0.700 | 1.000 | 16 | 1989 | 2017 | |||||||
|
1 | 12 | 115963489 | stop gained | G/A | snv | 0.700 | 1.000 | 16 | 1971 | 2018 | |||||||
|
1 | X | 41347013 | splice donor variant | G/A | snv | 0.700 | 1.000 | 16 | 1989 | 2017 | |||||||
|
1 | X | 53405893 | frameshift variant | C/- | delins | 0.700 | 1.000 | 16 | 1995 | 2017 | |||||||
|
1 | 14 | 28768011 | frameshift variant | CCACTACGAC/- | del | 0.700 | 1.000 | 15 | 1989 | 2017 | |||||||
|
1 | 10 | 43111366 | frameshift variant | -/G | delins | 0.700 | 1.000 | 12 | 1994 | 2012 | |||||||
|
1 | 12 | 49186402 | missense variant | C/A | snv | 0.700 | 1.000 | 11 | 2007 | 2016 |