| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 7676271 | frameshift variant | -/A | delins |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
4 | 105234028 | missense variant | C/G;T | snv | 6.3E-02; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 108270407 | intron variant | G/A | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
20 | 32434666 | missense variant | G/A | snv | 1.9E-02; 4.4E-06 | 7.4E-03 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
17 | 7673717 | synonymous variant | T/C | snv | 2.7E-04 | 7.0E-05 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
15 | 40718847 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
6 | 162262719 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
20 | 50082788 | missense variant | C/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||||
|
X | 48793910 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.030 | 0.667 | 3 | 2012 | 2015 | ||||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.050 | 1.000 | 5 | 2003 | 2015 | |||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.030 | 0.667 | 3 | 2012 | 2015 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.030 | 0.667 | 3 | 2012 | 2015 | |||||||||
|
0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 |
|
0.040 | 1.000 | 4 | 2003 | 2015 | |||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 |
|
0.020 | 1.000 | 2 | 2008 | 2009 | |||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
0.100 | 0.929 | 14 | 2005 | 2018 | ||||||||
|
0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.710 | 1.000 | 1 | 2016 | 2018 | ||||||||
|
0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 |
|
0.020 | 0.500 | 2 | 2012 | 2015 | ||||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2016 | 2016 |