| 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 | 1 | 40074160 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||
|
1 | 1.000 | 0.120 | 1 | 40092109 | frameshift variant | -/AAGT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 40092494 | splice acceptor variant | -/ACA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 40080485 | splice acceptor variant | -/G | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 1 | 40092462 | frameshift variant | -/T | delins | 3.2E-05; 4.0E-06; 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 3 | 1998 | 2012 | |||
|
1 | 1.000 | 0.120 | 1 | 40076863 | frameshift variant | -/T | delins | 7.0E-06 | 0.700 | 1.000 | 2 | 2000 | 2013 | ||||
|
1 | 1.000 | 0.120 | 1 | 40078632 | frameshift variant | -/T | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 1 | 40076865 | stop gained | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 40091364 | frameshift variant | A/- | del | 0.700 | 1.000 | 1 | 1998 | 1998 | |||||
|
1 | 1.000 | 0.120 | 1 | 40078565 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 40092082 | missense variant | A/C | snv | 4.0E-06 | 7.0E-06 | 0.800 | 1.000 | 7 | 1995 | 2012 | |||
|
1 | 1.000 | 0.120 | 1 | 40078603 | missense variant | A/C | snv | 0.800 | 1.000 | 7 | 1995 | 2012 | |||||
|
3 | 0.925 | 0.120 | 1 | 40092486 | stop gained | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 40092522 | intron variant | A/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 1 | 40091402 | splice region variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 40074068 | missense variant | A/C;G | snv | 0.800 | 1.000 | 7 | 1995 | 2012 | |||||
|
1 | 1.000 | 0.120 | 1 | 40078621 | missense variant | A/G | snv | 1.4E-05 | 0.800 | 1.000 | 7 | 1995 | 2012 | ||||
|
1 | 1.000 | 0.120 | 1 | 40076901 | missense variant | A/G | snv | 8.0E-06 | 0.800 | 1.000 | 7 | 1995 | 2012 | ||||
|
1 | 1.000 | 0.120 | 1 | 40074096 | missense variant | A/G | snv | 7.0E-06 | 0.800 | 1.000 | 7 | 1995 | 2012 | ||||
|
1 | 1.000 | 0.120 | 1 | 40076840 | splice donor variant | A/G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | 1 | 40092175 | splice region variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 40089408 | splice donor variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 1 | 40078612 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 1 | 40097237 | start lost | A/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.160 | 1 | 40092499 | missense variant | A/G | snv | 0.700 | 0 |