Source: ALL
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 | 1 | 11794437 | frameshift variant | -/C | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 11801333 | inframe insertion | -/TCACCTGCTGGGTGCCAGGTCACGTCTATGTAGAGGGGG | delins | 0.700 | 0 | |||||||||
|
2 | 0.925 | 1 | 11795114 | missense variant | A/C | snv | 0.700 | 1.000 | 7 | 1995 | 2015 | ||||||
|
1 | 1.000 | 1 | 11796217 | missense variant | A/C | snv | 0.800 | 1.000 | 7 | 1995 | 2015 | ||||||
|
1 | 1.000 | 1 | 11793921 | missense variant | A/C | snv | 0.800 | 1.000 | 7 | 1995 | 2015 | ||||||
|
1 | 1.000 | 1 | 11791235 | missense variant | A/C;G | snv | 4.0E-06 | 0.800 | 1.000 | 7 | 1995 | 2015 | |||||
|
1 | 1.000 | 1 | 11792276 | splice donor variant | A/C;G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 1 | 11793905 | splice donor variant | A/C;G | snv | 4.1E-06 | 0.700 | 0 | ||||||||
|
2 | 0.925 | 1 | 11795161 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 7 | 1995 | 2015 | ||||
|
1 | 1.000 | 1 | 11795116 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 7 | 1995 | 2015 | ||||
|
1 | 1.000 | 1 | 11801248 | missense variant | A/G | snv | 0.800 | 1.000 | 7 | 1995 | 2015 | ||||||
|
1 | 1.000 | 1 | 11790858 | missense variant | A/G | snv | 0.800 | 1.000 | 7 | 1995 | 2015 | ||||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.040 | 1.000 | 4 | 2014 | 2019 | |||
|
1 | 1.000 | 1 | 11794401 | missense variant | A/G | snv | 1.6E-05 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 1 | 11790682 | stop lost | A/G | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 1 | 11790768 | missense variant | A/G;T | snv | 0.800 | 1.000 | 7 | 1995 | 2015 | ||||||
|
1 | 1.000 | 1 | 11796219 | missense variant | A/T | snv | 8.0E-06 | 1.4E-05 | 0.800 | 1.000 | 7 | 1995 | 2015 | ||||
|
1 | 1.000 | 1 | 11803156 | 5 prime UTR variant | AG/- | del | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 11796324 | frameshift variant | C/- | delins | 0.700 | 1.000 | 2 | 2016 | 2016 | ||||||
|
1 | 1.000 | 1 | 11792317 | frameshift variant | C/- | del | 0.700 | 1.000 | 2 | 2011 | 2016 | ||||||
|
1 | 1.000 | 1 | 11796222 | missense variant | C/A | snv | 0.800 | 1.000 | 7 | 1995 | 2015 | ||||||
|
1 | 1.000 | 1 | 11801399 | missense variant | C/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 11791206 | splice donor variant | C/A | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 1 | 11794443 | missense variant | C/A;G | snv | 1.2E-05; 4.0E-06 | 0.800 | 0 | ||||||||
|
1 | 1.000 | 1 | 11802965 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 3.2E-05 | 0.700 | 1.000 | 7 | 1995 | 2015 |