| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.040 | 7 | 66994210 | splice donor variant | A/C;G | snv | 4.0E-06; 3.9E-03 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.200 | 17 | 745591 | missense variant | A/C;G | snv | 4.1E-06; 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.200 | 10 | 87925551 | missense variant | A/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 1 | 240092656 | missense variant | A/C;G;T | snv | 8.0E-06; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 2 | 112098688 | missense variant | A/G | snv | 1.6E-05 | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.851 | 0.120 | 3 | 47846757 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.120 | 8 | 91071136 | splice acceptor variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.160 | X | 19353124 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.400 | 16 | 5082676 | splice region variant | A/G | snv | 1.0E-04 | 1.3E-04 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.200 | X | 53403635 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.360 | 9 | 127825225 | splice region variant | A/G | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.695 | 0.440 | 13 | 20189313 | missense variant | A/G | snv | 6.4E-04 | 6.4E-04 |
|
0.700 | 0 | ||||||||||
|
0.776 | 0.480 | 16 | 75541466 | non coding transcript exon variant | A/G | snv | 4.2E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.280 | 9 | 2086854 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.120 | 9 | 84751990 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 1 | 26775673 | missense variant | A/G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 21 | 37486513 | missense variant | A/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | X | 77688879 | missense variant | A/T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.120 | 1 | 197102332 | frameshift variant | AAGT/- | delins |
|
0.700 | 1.000 | 2 | 2002 | 2009 | |||||||||
|
0.851 | 0.280 | 20 | 32433481 | frameshift variant | AG/- | del |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | X | 48902391 | frameshift variant | AGAG/-;AG;AGAGAG | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 21 | 37496119 | frameshift variant | AGAT/- | delins |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.925 | 0.120 | 10 | 92613446 | frameshift variant | ATAAATCAAT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 20 | 17970217 | frameshift variant | C/- | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.827 | 0.240 | 19 | 49835897 | frameshift variant | C/- | delins | 1.2E-05 | 1.4E-05 |
|
0.700 | 0 |