| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 1 | 215674335 | stop gained | G/A | snv | 7.0E-06 |
|
0.700 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
0.882 | 0.200 | 1 | 216048648 | splice acceptor variant | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.160 | 3 | 129528783 | missense variant | C/T | snv | 7.0E-06 |
|
0.750 | 1.000 | 1 | 2014 | 2019 | ||||||||
|
0.925 | 0.080 | 3 | 129528999 | missense variant | G/A;C | snv |
|
0.710 | 1.000 | 0 | 2011 | 2011 | |||||||||
|
0.882 | 0.080 | 3 | 129529049 | missense variant | G/A;T | snv | 1.6E-05 |
|
0.720 | 1.000 | 1 | 1999 | 2019 | ||||||||
|
0.807 | 0.160 | 3 | 129530917 | missense variant | C/T | snv |
|
0.730 | 1.000 | 1 | 2006 | 2019 | |||||||||
|
0.925 | 0.080 | 3 | 129532253 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.080 | 3 | 129532288 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.720 | 1.000 | 1 | 1993 | 2013 | ||||||||
|
0.882 | 0.080 | 3 | 129532636 | missense variant | C/T | snv |
|
0.710 | 1.000 | 0 | 1997 | 1997 | |||||||||
|
0.882 | 0.080 | 3 | 129528777 | missense variant | A/G | snv |
|
0.710 | 1.000 | 0 | 1998 | 1998 | |||||||||
|
0.851 | 0.080 | 3 | 129531005 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 3 | 129531025 | missense variant | C/T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.080 | 6 | 42178374 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.882 | 0.160 | 10 | 13283695 | missense variant | G/A | snv | 1.9E-04 | 7.0E-05 |
|
0.700 | 1.000 | 1 | 1997 | 1997 | |||||||
|
0.882 | 0.080 | 14 | 67726086 | stop gained | G/T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 14 | 67726983 | missense variant | C/A;G | snv | 8.0E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.200 | 17 | 60150074 | missense variant | C/T | snv | 2.5E-04 | 1.4E-04 |
|
0.710 | 1.000 | 2 | 2004 | 2005 | |||||||
|
0.882 | 0.080 | X | 46853731 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 7 | 128398560 | missense variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 6 | 63984462 | stop gained | G/A | snv | 2.5E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 1 | 94008300 | splice region variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 3 | 150972565 | missense variant | A/C | snv | 2.7E-04 | 1.5E-04 |
|
0.700 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.882 | 0.200 | 1 | 215799066 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.200 | 3 | 150972520 | stop gained | G/A;T | snv | 1.2E-05; 1.2E-05 |
|
0.700 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.882 | 0.200 | 1 | 216321921 | missense variant | A/G | snv | 2.4E-05 | 2.8E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |