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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 1.000 | 2 | 218649090 | frameshift variant | TT/- | del | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
8 | 1.000 | 7 | 44254555 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 1.000 | 7 | 44284206 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 1.000 | 2 | 218646330 | frameshift variant | C/- | del | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 1.000 | 6 | 33441374 | splice region variant | G/A | snv | 0.700 | 0 | |||||||||
|
4 | 1.000 | 6 | 33440746 | frameshift variant | -/AGGA | delins | 0.700 | 0 | |||||||||
|
7 | 0.925 | X | 20167669 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
4 | 1.000 | X | 41343802 | stop gained | G/A;T | snv | 5.6E-06 | 0.700 | 0 | ||||||||
|
2 | 1.000 | X | 41343291 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
4 | 1.000 | 21 | 37506191 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
5 | 19 | 41984953 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||||
|
9 | 0.882 | 0.040 | 5 | 150256777 | missense variant | C/G;T | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.882 | 0.040 | 5 | 150250270 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.882 | 0.040 | 5 | 150250281 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.925 | 0.040 | 5 | 150251979 | splice donor variant | -/A | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
6 | 0.882 | 0.040 | 5 | 150252032 | missense variant | T/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
9 | 0.882 | 0.040 | 5 | 150256811 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.925 | 0.040 | 5 | 150273157 | splice acceptor variant | C/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.925 | 0.040 | 7 | 44241784 | splice acceptor variant | C/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
12 | 0.882 | 0.040 | 7 | 44242328 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
12 | 0.882 | 0.040 | 5 | 150251808 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.925 | 0.040 | 14 | 102012450 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.040 | X | 51744647 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.040 | 20 | 63439610 | inframe deletion | AAG/- | delins | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.040 | 2 | 165994176 | missense variant | C/A | snv | 0.700 | 0 |