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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
34 | 0.716 | 0.400 | 19 | 13136099 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.240 | 6 | 157110496 | frameshift variant | CCG/TCCGCAGCCACTCC | delins | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.240 | 6 | 157167101 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.240 | 6 | 157181040 | frameshift variant | AA/- | delins | 0.700 | 0 | ||||||||
|
34 | 0.716 | 0.600 | 6 | 157181056 | stop gained | C/A;T | snv | 0.700 | 1.000 | 2 | 2012 | 2015 | |||||
|
6 | 0.925 | 0.240 | 6 | 157200866 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
33 | 0.732 | 0.480 | 22 | 23833670 | inframe deletion | AGA/- | delins | 0.700 | 0 | ||||||||
|
20 | 0.763 | 0.280 | 6 | 24777279 | frameshift variant | TCAA/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
19 | 0.807 | 0.280 | 1 | 26773716 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
50 | 0.672 | 0.560 | 16 | 30737343 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.320 | 18 | 55269829 | splice donor variant | ACCCAT/GGGAC | delins | 0.700 | 0 | ||||||||
|
73 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | ||||||||
|
73 | 0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
20 | 0.827 | 0.200 | 14 | 77025671 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
26 | 0.752 | 0.240 | 6 | 87260207 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
15 | 0.827 | 0.120 | 8 | 91071136 | splice acceptor variant | A/G | snv | 0.700 | 0 |