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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.440 | 13 | 32379913 | splice region variant | G/A;C;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 41 | 1997 | 2017 | ||||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.700 | 1.000 | 32 | 2001 | 2016 | ||||||||
|
0.882 | 0.280 | 13 | 32362595 | stop gained | G/A;C | snv | 8.0E-06 |
|
0.700 | 1.000 | 31 | 2002 | 2018 | ||||||||
|
0.641 | 0.400 | 17 | 7674230 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 30 | 1990 | 2017 | |||||||||
|
0.851 | 0.200 | 13 | 32394803 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 27 | 2000 | 2016 | ||||||||
|
0.763 | 0.320 | 7 | 6005918 | missense variant | C/A;T | snv | 1.6E-04; 8.1E-06 |
|
0.700 | 1.000 | 26 | 2004 | 2018 | ||||||||
|
0.701 | 0.240 | 17 | 48728343 | missense variant | C/T | snv | 1.8E-03 | 1.6E-03 |
|
0.700 | 1.000 | 26 | 1996 | 2017 | |||||||
|
0.827 | 0.280 | 13 | 32346896 | missense variant | G/A;C;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 26 | 1997 | 2018 | ||||||||
|
0.851 | 0.200 | 17 | 43045761 | missense variant | A/C;G | snv |
|
0.700 | 1.000 | 24 | 1996 | 2017 | |||||||||
|
0.807 | 0.240 | 3 | 37048955 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 23 | 1996 | 2017 | |||||||||
|
0.776 | 0.280 | 17 | 43093570 | frameshift variant | TTTT/-;TT;TTT;TTTTT | delins | 7.0E-06 |
|
0.700 | 1.000 | 23 | 1995 | 2017 | ||||||||
|
0.827 | 0.200 | 17 | 43124028 | frameshift variant | CT/-;CTCT | delins |
|
0.700 | 1.000 | 23 | 1995 | 2017 | |||||||||
|
0.672 | 0.560 | 3 | 69964940 | missense variant | G/A | snv | 1.4E-03 | 1.6E-03 |
|
0.700 | 1.000 | 22 | 1987 | 2016 | |||||||
|
0.763 | 0.320 | 13 | 32363369 | missense variant | G/A;C | snv | 7.0E-06 |
|
0.700 | 1.000 | 22 | 2001 | 2018 | ||||||||
|
0.683 | 0.400 | 10 | 87933148 | missense variant | G/A;C;T | snv |
|
0.700 | 1.000 | 21 | 1998 | 2017 | |||||||||
|
0.763 | 0.320 | 11 | 108329202 | missense variant | T/G | snv | 4.0E-05 | 6.3E-05 |
|
0.700 | 1.000 | 21 | 1996 | 2016 | |||||||
|
0.776 | 0.280 | 3 | 10149921 | missense variant | C/T | snv | 2.1E-04 | 1.0E-04 |
|
0.700 | 1.000 | 21 | 1996 | 2016 | |||||||
|
0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 |
|
0.700 | 1.000 | 21 | 1999 | 2017 | |||||||
|
0.882 | 0.200 | 2 | 47429830 | stop gained | C/T | snv |
|
0.700 | 1.000 | 21 | 2001 | 2016 | |||||||||
|
0.882 | 0.200 | 17 | 43063909 | missense variant | C/G;T | snv | 4.8E-05 |
|
0.700 | 1.000 | 21 | 2000 | 2016 | ||||||||
|
0.925 | 0.200 | 17 | 43093975 | frameshift variant | T/- | delins |
|
0.700 | 1.000 | 21 | 1996 | 2016 | |||||||||
|
0.827 | 0.280 | 13 | 32333284 | frameshift variant | A/-;AA | delins |
|
0.700 | 1.000 | 21 | 1996 | 2017 | |||||||||
|
0.925 | 0.080 | 17 | 17216395 | frameshift variant | G/-;GG | delins |
|
0.700 | 1.000 | 20 | 2002 | 2019 | |||||||||
|
0.882 | 0.200 | 17 | 43092046 | frameshift variant | T/- | del | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 20 | 1997 | 2017 | |||||||
|
0.925 | 0.200 | 13 | 32363178 | splice acceptor variant | G/A;C;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 20 | 2002 | 2017 |