| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.160 | 3 | 37050533 | frameshift variant | CA/-;CACA | delins | 0.700 | 1.000 | 1 | 2003 | 2003 | |||||
|
1 | 1.000 | 0.160 | 3 | 37017542 | missense variant | T/C;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 3 | 37020348 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.160 | 3 | 36996623 | splice acceptor variant | G/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 3 | 37001049 | splice donor variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 3 | 37001054 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 3 | 37001054 | splice donor variant | -/T | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 3 | 37014549 | splice region variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 3 | 37050645 | missense variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.160 | 3 | 37050633 | frameshift variant | AA/-;A;AAAA | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 3 | 37000991 | missense variant | A/G | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 3 | 36996618 | splice acceptor variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 3 | 37000985 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.160 | 3 | 37040276 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 3 | 37001046 | missense variant | G/A;C | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.160 | 3 | 37001051 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.240 | 3 | 37048563 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.160 | 3 | 37004444 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.160 | 3 | 37050523 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 3 | 37020412 | inframe deletion | ATC/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.160 | 3 | 37048578 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 3 | 37017509 | missense variant | G/A;C;T | snv | 4.8E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.160 | 3 | 37048609 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
25 | 0.677 | 0.280 | 3 | 37020356 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 3 | 36993549 | start lost | T/A;C;G | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 |