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 | ||||||||
|
0.882 | 0.280 | 13 | 32362595 | stop gained | G/A;C | snv | 8.0E-06 |
|
0.700 | 1.000 | 31 | 2002 | 2018 | ||||||||
|
0.827 | 0.280 | 13 | 32346896 | missense variant | G/A;C;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 27 | 1997 | 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 | ||||||||
|
0.827 | 0.280 | 13 | 32346896 | missense variant | G/A;C;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 26 | 1997 | 2018 | ||||||||
|
0.882 | 0.280 | 13 | 32362595 | stop gained | G/A;C | snv | 8.0E-06 |
|
0.700 | 1.000 | 23 | 2002 | 2019 | ||||||||
|
0.851 | 0.200 | 13 | 32394803 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 22 | 2000 | 2017 | ||||||||
|
0.763 | 0.320 | 13 | 32363369 | missense variant | G/A;C | snv | 7.0E-06 |
|
0.700 | 1.000 | 22 | 2001 | 2018 | ||||||||
|
0.925 | 0.200 | 13 | 32363178 | splice acceptor variant | G/A;C;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 20 | 2002 | 2017 | ||||||||
|
0.763 | 0.320 | 13 | 32363369 | missense variant | G/A;C | snv | 7.0E-06 |
|
0.700 | 1.000 | 19 | 2001 | 2014 | ||||||||
|
0.763 | 0.320 | 13 | 32363190 | missense variant | A/T | snv |
|
0.700 | 1.000 | 19 | 2000 | 2017 | |||||||||
|
0.882 | 0.200 | 13 | 32394717 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 7.6E-05 |
|
0.700 | 1.000 | 19 | 1996 | 2018 | ||||||||
|
0.882 | 0.200 | 13 | 32363211 | stop gained | C/A;G;T | snv |
|
0.700 | 1.000 | 18 | 2004 | 2017 | |||||||||
|
0.763 | 0.320 | 13 | 32394814 | stop gained | C/T | snv | 1.2E-05 | 4.2E-05 |
|
0.700 | 1.000 | 18 | 1990 | 2015 | |||||||
|
0.882 | 0.200 | 13 | 32363370 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 17 | 2004 | 2018 | ||||||||
|
0.724 | 0.320 | 13 | 32339320 | stop gained | C/A;G;R | snv | 4.2E-06 |
|
0.700 | 1.000 | 17 | 2007 | 2018 | ||||||||
|
0.882 | 0.200 | 13 | 32363445 | missense variant | G/A | snv | 8.0E-06 |
|
0.700 | 1.000 | 17 | 2004 | 2016 | ||||||||
|
0.851 | 0.200 | 13 | 32362521 | splice acceptor variant | A/G;T | snv |
|
0.700 | 1.000 | 17 | 1999 | 2016 | |||||||||
|
0.827 | 0.200 | 13 | 32356550 | stop gained | C/T | snv | 2.0E-05 | 1.4E-05 |
|
0.700 | 1.000 | 16 | 1997 | 2015 | |||||||
|
0.851 | 0.200 | 13 | 32379800 | missense variant | G/A | snv |
|
0.700 | 1.000 | 16 | 2006 | 2018 | |||||||||
|
0.851 | 0.280 | 13 | 32326615 | splice donor variant | T/A;C;G | snv |
|
0.700 | 1.000 | 16 | 2000 | 2016 | |||||||||
|
0.724 | 0.320 | 13 | 32339320 | stop gained | C/A;G;R | snv | 4.2E-06 |
|
0.700 | 1.000 | 15 | 2007 | 2016 | ||||||||
|
0.742 | 0.440 | 13 | 32340212 | stop gained | G/T | snv | 8.0E-06 |
|
0.700 | 1.000 | 15 | 1996 | 2016 | ||||||||
|
0.925 | 0.200 | 13 | 32357881 | stop gained | G/A | snv | 8.0E-06 |
|
0.700 | 1.000 | 15 | 2003 | 2017 | ||||||||
|
0.882 | 0.200 | 13 | 32363211 | stop gained | C/A;G;T | snv |
|
0.700 | 1.000 | 15 | 2004 | 2018 |