Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 5 | 128338938 | missense variant | C/A | snv | 0.800 | 1.000 | 14 | 1973 | 2016 | |||||
|
1 | 1.000 | 0.080 | 5 | 128335544 | missense variant | C/T | snv | 0.800 | 1.000 | 10 | 1995 | 2016 | |||||
|
1 | 1.000 | 0.080 | 5 | 128395182 | missense variant | C/T | snv | 0.800 | 1.000 | 10 | 1995 | 2016 | |||||
|
1 | 1.000 | 0.080 | 5 | 128344385 | missense variant | C/G | snv | 0.800 | 1.000 | 10 | 1995 | 2016 | |||||
|
1 | 1.000 | 0.080 | 5 | 128338980 | missense variant | C/A | snv | 4.0E-06 | 0.800 | 1.000 | 10 | 1995 | 2016 | ||||
|
1 | 1.000 | 0.080 | 5 | 128335543 | missense variant | A/C | snv | 0.800 | 1.000 | 10 | 1995 | 2016 | |||||
|
1 | 1.000 | 0.080 | 5 | 128332983 | missense variant | C/T | snv | 0.800 | 1.000 | 10 | 1995 | 2016 | |||||
|
1 | 1.000 | 0.080 | 5 | 128335525 | missense variant | A/T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 5 | 128338114 | missense variant | C/T | snv | 0.700 | 1.000 | 10 | 1995 | 2016 | |||||
|
1 | 1.000 | 0.080 | 5 | 128366419 | missense variant | C/T | snv | 1.5E-03 | 1.4E-03 | 0.700 | 1.000 | 9 | 1995 | 2016 | |||
|
1 | 1.000 | 0.080 | 5 | 128274648 | stop gained | G/A | snv | 0.700 | 1.000 | 3 | 2001 | 2002 | |||||
|
1 | 1.000 | 0.080 | 5 | 128338932 | splice donor variant | C/T | snv | 0.700 | 1.000 | 1 | 2002 | 2002 | |||||
|
1 | 1.000 | 0.080 | 5 | 128378884 | missense variant | T/A;C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 5 | 128328823 | splice acceptor variant | T/A | snv | 0.700 | 1.000 | 1 | 1996 | 1996 | |||||
|
7 | 0.807 | 0.160 | 15 | 48444574 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.160 | 5 | 128349391 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 5 | 128332911 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 5 | 128330612 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 5 | 128330633 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 5 | 128338081 | missense variant | C/A;T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
22 | 0.742 | 0.160 | 5 | 128335170 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 5 | 128335994 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 5 | 128338941 | inframe deletion | TTC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 5 | 128446608 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 5 | 128302968 | splice region variant | C/T | snv | 0.700 | 0 |