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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 3 | 51064514 | stop gained | C/T | snv | 0.700 | 1.000 | 23 | 2000 | 2018 | ||||||
|
2 | 17 | 59668852 | missense variant | C/T | snv | 0.700 | 1.000 | 23 | 1976 | 2017 | |||||||
|
2 | 3 | 41235799 | stop gained | C/A;T | snv | 0.700 | 1.000 | 22 | 1991 | 2017 | |||||||
|
2 | 3 | 41233416 | frameshift variant | G/- | delins | 0.700 | 1.000 | 22 | 1991 | 2017 | |||||||
|
2 | 3 | 123347875 | frameshift variant | -/G | delins | 0.700 | 1.000 | 22 | 1992 | 2017 | |||||||
|
3 | 1.000 | 11 | 118503389 | frameshift variant | A/- | del | 0.700 | 1.000 | 22 | 1989 | 2017 | ||||||
|
2 | 11 | 118505003 | frameshift variant | GTTT/- | delins | 0.700 | 1.000 | 22 | 1989 | 2017 | |||||||
|
1 | 18 | 55254579 | frameshift variant | CC/- | del | 0.700 | 1.000 | 22 | 2007 | 2017 | |||||||
|
10 | 0.776 | 0.160 | 3 | 41224995 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 22 | 1991 | 2017 | ||||
|
5 | 0.925 | 0.240 | 11 | 118473471 | frameshift variant | C/-;CC | delins | 0.700 | 1.000 | 22 | 1989 | 2017 | |||||
|
9 | 0.851 | 0.080 | 3 | 123352464 | missense variant | G/A | snv | 0.700 | 1.000 | 22 | 1992 | 2017 | |||||
|
4 | 0.925 | 0.200 | 2 | 199348709 | missense variant | G/A | snv | 0.700 | 1.000 | 21 | 1989 | 2017 | |||||
|
1 | 1 | 42930661 | stop gained | G/A | snv | 0.700 | 1.000 | 21 | 1991 | 2016 | |||||||
|
3 | 1.000 | 1 | 42929652 | stop gained | G/A | snv | 0.700 | 1.000 | 21 | 1991 | 2016 | ||||||
|
2 | 1.000 | 2 | 32128440 | inframe deletion | CTT/- | delins | 0.700 | 1.000 | 21 | 1999 | 2016 | ||||||
|
1 | 5 | 114404815 | inframe deletion | TAT/- | delins | 0.700 | 1.000 | 21 | 1999 | 2016 | |||||||
|
3 | 1.000 | 13 | 23354906 | stop gained | C/T | snv | 0.700 | 1.000 | 21 | 1993 | 2016 | ||||||
|
4 | 1.000 | X | 77593803 | stop gained | C/T | snv | 0.700 | 1.000 | 21 | 1992 | 2017 | ||||||
|
3 | 1.000 | 0.080 | 2 | 32127017 | missense variant | A/G | snv | 0.700 | 1.000 | 21 | 1999 | 2016 | |||||
|
5 | 0.882 | 0.080 | 2 | 32141906 | missense variant | G/A | snv | 0.700 | 1.000 | 21 | 1999 | 2016 | |||||
|
3 | 1.000 | 6 | 157201481 | frameshift variant | -/G | delins | 0.700 | 1.000 | 20 | 1984 | 2017 | ||||||
|
4 | 1.000 | 8 | 60828698 | frameshift variant | GAACACTGTGGAAGAAC/- | del | 0.700 | 1.000 | 20 | 1999 | 2016 | ||||||
|
3 | 0.925 | 0.200 | 11 | 105926814 | missense variant | A/G | snv | 0.700 | 1.000 | 20 | 1992 | 2016 | |||||
|
3 | 1.000 | 0.120 | 19 | 6496032 | missense variant | C/A;T | snv | 0.700 | 1.000 | 20 | 2002 | 2017 | |||||
|
7 | 0.882 | 0.200 | 20 | 4699570 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1993 | 2018 |