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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins |
|
0.100 | 0.950 | 20 | 1997 | 2007 | |||||||||
|
0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 |
|
0.100 | 0.950 | 20 | 1997 | 2007 | |||||||
|
0.716 | 0.200 | 3 | 37025749 | missense variant | T/A | snv | 2.7E-03 | 7.5E-04 |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.839 | 56 | 1999 | 2018 | |||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.020 | 1.000 | 2 | 1999 | 2004 | |||||||
|
0.732 | 0.200 | 5 | 112839543 | missense variant | G/C | snv | 4.4E-03 | 5.6E-03 |
|
0.080 | 0.875 | 8 | 2000 | 2016 | |||||||
|
0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.100 | 0.870 | 23 | 2002 | 2018 | |||||||||
|
0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 |
|
0.080 | 1.000 | 8 | 2002 | 2013 | |||||||
|
0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 |
|
0.050 | 1.000 | 5 | 2002 | 2011 | |||||||
|
0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 |
|
0.030 | 1.000 | 3 | 2002 | 2017 | |||||||
|
0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 0.22 | 0.30 |
|
0.020 | 1.000 | 2 | 2002 | 2011 | |||||||
|
0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 |
|
0.020 | 0.500 | 2 | 2002 | 2019 | ||||||||
|
0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv |
|
0.020 | 1.000 | 2 | 2002 | 2011 | |||||||||
|
0.752 | 0.360 | 21 | 43058894 | missense variant | T/G | snv | 5.6E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.807 | 0.120 | 5 | 112827177 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.623 | 0.680 | 21 | 43062358 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.070 | 0.857 | 7 | 2003 | 2015 | |||||||
|
0.925 | 0.080 | 17 | 4817174 | missense variant | C/T | snv | 0.39 | 0.36 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.100 | 0.867 | 15 | 2004 | 2015 | |||||||
|
0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 |
|
0.100 | 1.000 | 13 | 2004 | 2018 | |||||||
|
0.752 | 0.320 | 5 | 112841059 | missense variant | T/A;G | snv | 0.79 |
|
0.040 | 1.000 | 4 | 2004 | 2019 | ||||||||
|
0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 |
|
0.030 | 1.000 | 3 | 2004 | 2011 | |||||||
|
0.742 | 0.280 | 2 | 47475171 | missense variant | G/A;C | snv | 1.6E-05 |
|
0.030 | 1.000 | 3 | 2004 | 2008 | ||||||||
|
0.827 | 0.160 | 3 | 37050495 | missense variant | C/G | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2004 | 2007 |