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 | 0.080 | 3 | 58077271 | missense variant | C/T | snv | 0.800 | 1.000 | 1 | 2004 | 2004 | |||||
|
2 | 0.925 | 0.080 | 3 | 58078779 | missense variant | A/G | snv | 0.800 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.080 | 3 | 58077270 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 58078777 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 3 | 58078804 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 58136111 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 58138347 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 3 | 58138491 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 3 | 58077235 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 3 | 58081689 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 3 | 58081668 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 3 | 58097911 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 3 | 58097918 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 3 | 58130810 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 58136018 | inframe deletion | TAA/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 3 | 58136063 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 3 | 58136082 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 3 | 58136115 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 3 | 58145995 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 3 | 58108461 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 3 | 58163161 | stop gained | T/C;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 3 | 58110138 | stop gained | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 3 | 58136126 | stop gained | C/G;T | snv | 3.6E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 3 | 58153412 | frameshift variant | C/- | delins | 0.700 | 0 |