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 | 0.120 | X | 154380980 | missense variant | C/A;T | snv | 0.800 | 1.000 | 4 | 1999 | 2004 | |||||
|
1 | 1.000 | 0.120 | X | 154380979 | missense variant | C/A | snv | 0.800 | 1.000 | 4 | 1999 | 2004 | |||||
|
1 | 1.000 | 0.120 | X | 154381052 | frameshift variant | G/- | delins | 0.700 | 1.000 | 4 | 1995 | 2005 | |||||
|
1 | 1.000 | 0.120 | X | 154380783 | stop gained | G/T | snv | 0.700 | 1.000 | 3 | 1996 | 2011 | |||||
|
1 | 1.000 | 0.120 | X | 154381032 | stop gained | G/A | snv | 0.700 | 1.000 | 3 | 1996 | 2011 | |||||
|
1 | 1.000 | 0.120 | X | 154380916 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 1996 | 2005 | |||||
|
1 | 1.000 | 0.120 | X | 154381013 | frameshift variant | CA/- | del | 0.700 | 1.000 | 2 | 1996 | 2005 | |||||
|
1 | 1.000 | 0.120 | X | 154379754 | frameshift variant | -/C | delins | 0.700 | 1.000 | 2 | 2007 | 2011 | |||||
|
1 | 1.000 | 0.120 | X | 154379730 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 154379737 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 154379740 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 154379968 | frameshift variant | -/AT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 154379500 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 154379707 | stop gained | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 154381037 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 154379496 | stop gained | C/G;T | snv | 1.7E-05 | 6.5E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | X | 154379544 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.120 | X | 154379485 | start lost | A/G | snv | 0.710 | 1.000 | 4 | 1994 | 2015 | |||||
|
2 | 0.925 | 0.120 | X | 154379567 | splice donor variant | G/T | snv | 0.700 | 1.000 | 1 | 1995 | 1995 | |||||
|
3 | 0.925 | 0.120 | X | 154381106 | frameshift variant | TCTGG/- | del | 0.700 | 1.000 | 1 | 1999 | 1999 | |||||
|
2 | 0.925 | 0.120 | 14 | 23424025 | missense variant | T/A | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.160 | 14 | 23415021 | missense variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2007 | 2007 | |||||
|
6 | 0.807 | 0.160 | 14 | 23429345 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.160 | 14 | 23428534 | missense variant | A/C;G;T | snv | 0.700 | 0 | ||||||||
|
9 | 0.763 | 0.160 | 14 | 23426833 | missense variant | C/T | snv | 8.0E-06 | 4.9E-05 | 0.700 | 1.000 | 5 | 1999 | 2014 |