| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
11 | 108259050 | frameshift variant | A/- | del |
|
0.700 | 0 | ||||||||||||||
|
11 | 108307917 | frameshift variant | -/G | delins |
|
0.700 | 0 | ||||||||||||||
|
1.000 | 0.120 | 16 | 2077476 | non coding transcript exon variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 16 | 2061946 | stop gained | G/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.742 | 0.400 | 17 | 7674890 | missense variant | T/A;C;G | snv |
|
0.020 | 1.000 | 2 | 1991 | 2008 | |||||||||
|
0.667 | 0.360 | 17 | 7674893 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 1992 | 1992 | ||||||||
|
1.000 | 0.040 | 14 | 81143914 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 1993 | 1993 | |||||||||
|
0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 |
|
0.780 | 1.000 | 9 | 1995 | 2020 | ||||||||
|
0.689 | 0.400 | 6 | 36684194 | missense variant | C/A;T | snv | 0.15; 4.4E-05 |
|
0.030 | 1.000 | 3 | 1995 | 2016 | ||||||||
|
0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 1995 | 1995 | |||||||||
|
7 | 141972869 | missense variant | C/T | snv | 1.6E-04 | 1.7E-04 |
|
0.010 | 1.000 | 1 | 1995 | 1995 | |||||||||
|
22 | 29678208 | missense variant | A/C;G | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 1995 | 1995 | ||||||||||
|
2 | 219216057 | missense variant | C/A;T | snv | 2.0E-04 |
|
0.010 | 1.000 | 1 | 1995 | 1995 | ||||||||||
|
20 | 58854270 | missense variant | G/A;T | snv | 8.2E-06 |
|
0.010 | 1.000 | 1 | 1995 | 1995 | ||||||||||
|
0.724 | 0.280 | 10 | 43113648 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 1995 | 1995 | ||||||||
|
1.000 | 0.120 | 6 | 54121506 | missense variant | A/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 1995 | 1995 | ||||||||
|
0.732 | 0.160 | 10 | 43113649 | missense variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 1995 | 1995 | |||||||||
|
0.641 | 0.440 | 17 | 7674888 | missense variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 1995 | 1995 | |||||||||
|
0.742 | 0.320 | 18 | 52906232 | missense variant | C/A;G | snv | 0.45 |
|
0.020 | 0.500 | 2 | 1997 | 2004 | ||||||||
|
0.763 | 0.320 | 10 | 73913343 | missense variant | T/C | snv | 0.75 | 0.81 |
|
0.010 | 1.000 | 1 | 1997 | 1997 | |||||||
|
0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 |
|
0.100 | 0.846 | 13 | 1998 | 2014 | |||||||
|
0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins |
|
0.100 | 0.917 | 12 | 1998 | 2013 | |||||||||
|
0.724 | 0.280 | 3 | 41224633 | missense variant | A/C;G;T | snv |
|
0.070 | 1.000 | 7 | 1998 | 2019 |