| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.160 | 2 | 25240312 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 36 | 1989 | 2018 | ||||||||
|
0.882 | 0.160 | 15 | 48432947 | stop gained | G/A | snv |
|
0.700 | 1.000 | 29 | 1986 | 2016 | |||||||||
|
1.000 | 20 | 63407149 | frameshift variant | G/- | delins |
|
0.700 | 1.000 | 29 | 1980 | 2017 | ||||||||||
|
0.925 | 0.160 | 15 | 48432911 | missense variant | A/G | snv |
|
0.700 | 1.000 | 29 | 1986 | 2016 | |||||||||
|
9 | 127669950 | frameshift variant | G/- | delins |
|
0.700 | 1.000 | 27 | 1998 | 2016 | |||||||||||
|
0.851 | 0.080 | 10 | 121517342 | missense variant | G/C | snv |
|
0.700 | 1.000 | 26 | 1985 | 2017 | |||||||||
|
1.000 | 12 | 49030285 | frameshift variant | -/GTGCCCTT | delins |
|
0.700 | 1.000 | 25 | 1988 | 2017 | ||||||||||
|
1.000 | 3 | 41233398 | missense variant | A/T | snv |
|
0.700 | 1.000 | 22 | 1991 | 2017 | ||||||||||
|
1.000 | 11 | 118472681 | stop gained | G/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 22 | 1989 | 2017 | |||||||||
|
1.000 | 1 | 42929652 | stop gained | G/A | snv |
|
0.700 | 1.000 | 21 | 1991 | 2016 | ||||||||||
|
2 | 166228902 | stop gained | C/T | snv |
|
0.700 | 1.000 | 21 | 1995 | 2016 | |||||||||||
|
1.000 | 14 | 99176115 | stop gained | G/A;C | snv | 4.1E-06 |
|
0.700 | 1.000 | 19 | 2003 | 2016 | |||||||||
|
1.000 | 2 | 166051871 | frameshift variant | C/- | delins |
|
0.700 | 1.000 | 19 | 1997 | 2014 | ||||||||||
|
0.807 | 0.120 | X | 154030621 | splice acceptor variant | TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/- | delins |
|
0.700 | 1.000 | 19 | 1993 | 2016 | |||||||||
|
1.000 | 0.120 | 12 | 76348313 | frameshift variant | AACGCCGC/- | delins |
|
0.700 | 1.000 | 17 | 1999 | 2013 | |||||||||
|
0.925 | 0.120 | 12 | 102840507 | missense variant | G/A | snv | 6.0E-04 | 5.6E-04 |
|
0.700 | 1.000 | 17 | 1993 | 2015 | |||||||
|
0.752 | 0.280 | 12 | 76347713 | frameshift variant | -/A | delins | 6.0E-04 |
|
0.700 | 1.000 | 17 | 1999 | 2013 | ||||||||
|
1.000 | 0.120 | 12 | 102852929 | missense variant | C/A;T | snv | 7.6E-05 |
|
0.700 | 1.000 | 17 | 1993 | 2015 | ||||||||
|
0.807 | 0.240 | 12 | 76348214 | missense variant | G/A | snv | 4.8E-05 | 4.9E-05 |
|
0.700 | 1.000 | 17 | 1999 | 2013 | |||||||
|
12 | 76346181 | missense variant | C/A;G | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 17 | 1999 | 2013 | |||||||||
|
1.000 | 12 | 115987290 | splice acceptor variant | T/C | snv |
|
0.700 | 1.000 | 16 | 1971 | 2018 | ||||||||||
|
1.000 | X | 41334255 | start lost | G/C | snv |
|
0.700 | 1.000 | 16 | 1989 | 2017 | ||||||||||
|
1 | 215845823 | coding sequence variant | C/- | delins |
|
0.700 | 1.000 | 15 | 2000 | 2015 | |||||||||||
|
0.701 | 0.360 | 1 | 216247095 | frameshift variant | C/- | del | 7.6E-04 | 5.4E-04 |
|
0.700 | 1.000 | 15 | 2000 | 2015 | |||||||
|
0.716 | 0.240 | 3 | 179218295 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 14 | 2006 | 2018 |