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 | 0.040 | 5 | 1294549 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 5 | 1253748 | missense variant | A/G | snv | 0.700 | 0 | |||||||||
|
2 | 0.925 | 0.040 | 5 | 1255333 | frameshift variant | GA/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 5 | 1293837 | frameshift variant | AG/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 5 | 1294810 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.160 | 5 | 1280216 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 5 | 1278765 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 5 | 1271156 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 5 | 1260509 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
|
3 | 0.882 | 0.040 | 5 | 1293652 | missense variant | G/A;T | snv | 3.3E-03; 6.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 5 | 1260508 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 5 | 1279431 | missense variant | C/G;T | snv | 6.5E-06; 6.5E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 5 | 1279323 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
2 | 0.925 | 0.120 | 5 | 1264541 | missense variant | C/G | snv | 4.0E-06 | 0.800 | 1.000 | 3 | 2005 | 2011 | ||||
|
1 | 1.000 | 5 | 1272247 | stop gained | G/A;T | snv | 5.3E-05; 4.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 5 | 1279370 | missense variant | T/C | snv | 1.6E-04 | 1.3E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 |