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 | 10 | 89223683 | splice donor variant | C/G;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 10 | 89245776 | stop gained | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 89215944 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 89222509 | splice donor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 89225111 | stop gained | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 89247536 | splice donor variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 89222510 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 89228277 | frameshift variant | -/GG | ins | 8.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 10 | 89228230 | frameshift variant | G/- | del | 2.0E-05 | 7.7E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 10 | 89228375 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 10 | 89225172 | frameshift variant | -/A | delins | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 1994 | 1994 | |||
|
3 | 0.925 | 0.080 | 10 | 89215021 | missense variant | G/A | snv | 1.6E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 1995 | 1995 | |||
|
1 | 1.000 | 0.080 | 10 | 89222513 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 1996 | 1996 | |||||
|
1 | 1.000 | 0.080 | 4 | 114623206 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
1 | 1.000 | 0.080 | 10 | 88678446 | missense variant | C/G;T | snv | 4.0E-06; 5.6E-05 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
1 | 1.000 | 0.080 | 10 | 88678487 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
1 | 1.000 | 0.080 | 10 | 89226951 | frameshift variant | T/- | delins | 1.4E-05 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 10 | 89228209 | stop gained | C/T | snv | 7.0E-06 | 0.710 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 10 | 89228368 | missense variant | C/A | snv | 8.0E-06 | 0.710 | 1.000 | 7 | 1990 | 2013 | ||||
|
1 | 1.000 | 0.080 | 10 | 89223822 | frameshift variant | A/- | delins | 1.4E-05 | 0.700 | 1.000 | 2 | 1999 | 2014 | ||||
|
2 | 0.925 | 0.080 | 10 | 89225168 | missense variant | A/G | snv | 8.0E-06 | 1.4E-05 | 0.800 | 1.000 | 9 | 1994 | 2015 | |||
|
1 | 1.000 | 0.080 | 10 | 89222522 | missense variant | G/A | snv | 0.700 | 1.000 | 6 | 1994 | 2015 | |||||
|
1 | 1.000 | 0.080 | 10 | 89245712 | stop gained | G/A | snv | 2.0E-05 | 3.5E-05 | 0.700 | 1.000 | 5 | 1997 | 2015 | |||
|
2 | 0.925 | 0.080 | 10 | 89223710 | stop gained | C/A | snv | 4.0E-06 | 3.5E-05 | 0.710 | 1.000 | 3 | 1996 | 2015 | |||
|
1 | 1.000 | 0.080 | 10 | 89215004 | missense variant | C/T | snv | 8.0E-06 | 3.5E-05 | 0.710 | 1.000 | 3 | 1999 | 2015 |