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 | 6 | 129393130 | frameshift variant | -/A | delins | 1.2E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.120 | 6 | 129514477 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 129478729 | frameshift variant | -/AAGA | delins | 7.0E-06 | 0.700 | 1.000 | 2 | 2008 | 2014 | ||||
|
1 | 1.000 | 0.120 | 6 | 129250182 | frameshift variant | -/ACGTGTTC | delins | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 6 | 129149020 | frameshift variant | -/CT | ins | 0.700 | 1.000 | 1 | 1998 | 1998 | |||||
|
1 | 1.000 | 0.120 | 6 | 129353328 | frameshift variant | -/TGCA | delins | 4.0E-06 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.120 | 6 | 129154599 | frameshift variant | A/- | del | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | 6 | 129353321 | frameshift variant | A/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 6 | 129393064 | frameshift variant | A/-;AAAAA | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 6 | 129464288 | splice acceptor variant | A/C | snv | 1.6E-05 | 1.4E-05 | 0.700 | 1.000 | 2 | 2008 | 2015 | |||
|
2 | 1.000 | 0.120 | 6 | 129314653 | splice acceptor variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 129280071 | missense variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2014 | 2015 | |||||
|
1 | 1.000 | 0.120 | 6 | 129427750 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 129516188 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 129505198 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 129280059 | splice acceptor variant | A/G | snv | 3.6E-05; 8.0E-06 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 6 | 129315760 | splice acceptor variant | A/G;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 6 | 129402322 | splice acceptor variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 129516273 | stop gained | A/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 3 | 1999 | 2000 | |||
|
1 | 1.000 | 0.120 | 6 | 129353162 | splice acceptor variant | A/T | snv | 0.700 | 1.000 | 2 | 1995 | 2015 | |||||
|
1 | 1.000 | 0.120 | 6 | 129144078 | stop gained | A/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 6 | 129475394 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 129391572 | frameshift variant | AAGA/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 6 | 129252244 | frameshift variant | AG/- | delins | 0.700 | 1.000 | 2 | 1998 | 2010 | |||||
|
1 | 1.000 | 0.120 | 6 | 129315540 | frameshift variant | AGGGCATTGTTTTTCAACATCCA/- | delins | 0.700 | 1.000 | 1 | 1998 | 1998 |