| 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 | 40076840 | splice donor variant | A/G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | 1 | 40097125 | frameshift variant | C/- | delins | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 1 | 40092150 | inframe deletion | AAG/- | delins | 1.4E-05 | 0.700 | 1.000 | 5 | 2000 | 2007 | ||||
|
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 | 40074160 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||
|
1 | 1.000 | 0.120 | 1 | 40080396 | splice donor variant | C/A | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||
|
1 | 1.000 | 0.120 | 1 | 40092457 | frameshift variant | C/- | delins | 7.0E-06 | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||
|
2 | 0.925 | 0.120 | 1 | 40078659 | splice acceptor variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||
|
1 | 1.000 | 0.120 | 1 | 40097210 | stop gained | A/T | snv | 8.0E-05 | 4.2E-05 | 0.700 | 1.000 | 9 | 1998 | 2014 | |||
|
1 | 1.000 | 0.120 | 1 | 40080474 | missense variant | C/T | snv | 1.6E-05 | 1.4E-05 | 0.700 | 1.000 | 5 | 1998 | 2006 | |||
|
4 | 0.851 | 0.120 | 1 | 40089495 | stop gained | G/A;C | snv | 2.4E-04; 1.2E-05 | 0.710 | 1.000 | 4 | 1998 | 2013 | ||||
|
1 | 1.000 | 0.120 | 1 | 40089456 | stop gained | G/A | snv | 8.0E-06 | 0.700 | 1.000 | 4 | 1998 | 2012 | ||||
|
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 | 40097238 | start lost | T/C | snv | 0.700 | 1.000 | 2 | 1998 | 1998 | |||||
|
1 | 1.000 | 0.120 | 1 | 40091364 | frameshift variant | A/- | del | 0.700 | 1.000 | 1 | 1998 | 1998 | |||||
|
3 | 0.882 | 0.120 | 1 | 40080483 | missense variant | C/A;T | snv | 1.2E-05; 8.8E-05 | 0.800 | 1.000 | 17 | 1995 | 2017 | ||||
|
1 | 1.000 | 0.120 | 1 | 40092507 | missense variant | C/T | snv | 0.800 | 1.000 | 13 | 1995 | 2012 | |||||
|
4 | 0.925 | 0.120 | 1 | 40091398 | missense variant | T/A | snv | 7.0E-04 | 6.0E-04 | 0.800 | 1.000 | 9 | 1995 | 2016 | |||
|
3 | 0.882 | 0.120 | 1 | 40092409 | missense variant | T/G | snv | 1.6E-05 | 5.6E-05 | 0.800 | 1.000 | 9 | 1995 | 2013 | |||
|
1 | 1.000 | 0.120 | 1 | 40089417 | stop gained | G/A;C | snv | 3.6E-05 | 0.800 | 1.000 | 9 | 1995 | 2012 | ||||
|
1 | 1.000 | 0.120 | 1 | 40092171 | missense variant | T/C | snv | 4.0E-06 | 0.800 | 1.000 | 7 | 1995 | 2012 | ||||
|
2 | 0.925 | 0.120 | 1 | 40078630 | missense variant | A/T | snv | 0.800 | 1.000 | 7 | 1995 | 2012 | |||||
|
1 | 1.000 | 0.120 | 1 | 40092085 | missense variant | C/G | snv | 0.800 | 1.000 | 7 | 1995 | 2012 | |||||
|
1 | 1.000 | 0.120 | 1 | 40092498 | missense variant | C/T | snv | 0.800 | 1.000 | 7 | 1995 | 2012 | |||||
|
1 | 1.000 | 0.120 | 1 | 40097125 | stop gained | C/A;T | snv | 0.800 | 1.000 | 7 | 1995 | 2012 |