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 | 244054373 | frameshift variant | C/- | del | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 244054357 | stop gained | C/A;T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 244054717 | frameshift variant | AG/- | del | 0.700 | 0 | |||||||||
|
2 | 1.000 | 1 | 244053916 | stop gained | C/G;T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 244055075 | missense variant | T/C | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 244055218 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 244055267 | missense variant | A/C | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 244055165 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 244054171 | stop gained | G/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 244055164 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
|
4 | 0.925 | 1 | 244055156 | missense variant | A/G | snv | 0.700 | 0 | |||||||||
|
5 | 0.925 | 0.160 | 1 | 244053934 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 1 | 244054957 | stop gained | C/T | snv | 0.700 | 0 |