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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.200 | 2 | 219420939 | missense variant | G/A;C;T | snv | 6.8E-05 |
|
0.710 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.851 | 0.200 | MT | 15923 | non coding transcript exon variant | A/G | snv |
|
0.700 | 1.000 | 4 | 1993 | 2018 | |||||||||
|
0.851 | 0.160 | 19 | 40504064 | stop gained | C/T | snv | 8.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.742 | 0.320 | 18 | 12337505 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.708 | 0.440 | 19 | 1242559 | missense variant | C/T | snv | 6.7E-06 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1 | 202596928 | inframe deletion | ATAGTC/- | delins |
|
0.700 | 0 | ||||||||||||||
|
1.000 | 0.040 | 2 | 232535143 | missense variant | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 2 | 232531353 | frameshift variant | T/- | del |
|
0.700 | 0 | ||||||||||||
|
X | 32573812 | stop gained | C/A;G;T | snv | 5.5E-06; 5.5E-06 |
|
0.700 | 0 | |||||||||||||
|
0.752 | 0.320 | 22 | 30946373 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 9 | 92719007 | inframe deletion | ATT/- | del |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 16 | 89556976 | frameshift variant | G/- | del | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.763 | 0.160 | 17 | 63964587 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.662 | 0.440 | 12 | 112450368 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
1.000 | 18 | 70030114 | splice region variant | A/T | snv | 4.0E-06 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 16 | 56887967 | missense variant | G/A | snv | 3.7E-04 | 4.1E-04 |
|
0.700 | 0 | ||||||||||
|
0.752 | 0.240 | 4 | 25145092 | synonymous variant | C/T | snv | 2.8E-05 | 4.2E-05 |
|
0.700 | 0 | ||||||||||
|
0.763 | 0.280 | 9 | 85596450 | splice acceptor variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.320 | 11 | 119093274 | stop lost | GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- | delins |
|
0.700 | 0 | ||||||||||||
|
14 | 54844115 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||||
|
0.827 | 0.200 | 14 | 77027274 | stop gained | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
15 | 42387891 | splice region variant | G/A | snv |
|
0.700 | 0 | ||||||||||||||
|
0.882 | 0.120 | 15 | 42399617 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv |
|
0.700 | 0 |