| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.742 | 0.440 | 2 | 121530892 | non coding transcript exon variant | C/G;T | snv | 7.7E-06; 2.3E-05; 3.5E-04 |
|
0.700 | 0 | |||||||||||
|
0.752 | 0.280 | 17 | 63957514 | missense variant | C/T | snv | 8.2E-06 | 1.4E-05 |
|
0.700 | 1.000 | 2 | 2004 | 2008 | |||||||
|
0.807 | 0.200 | 6 | 43050050 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.827 | 0.240 | 21 | 37486563 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.807 | 0.320 | 11 | 71441307 | stop gained | C/T | snv | 8.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.790 | 0.240 | 14 | 87988523 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.520 | 20 | 58903703 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 9 | 83972190 | splice acceptor variant | C/T | snv |
|
0.700 | 0 | |||||||||||||
|
0.776 | 0.240 | 14 | 87968393 | missense variant | C/T | snv | 8.0E-06 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.732 | 0.320 | 3 | 41227287 | protein altering variant | CCACAAGCAG/T | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 5 | 36984990 | frameshift variant | CT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.160 | 9 | 131506164 | inframe deletion | CTT/- | delins | 3.2E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins |
|
0.700 | 0 | ||||||||||||
|
0.724 | 0.440 | 9 | 130872961 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.200 | 6 | 43041036 | stop gained | G/A | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.752 | 0.320 | 8 | 60849154 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.120 | 3 | 49047207 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.440 | 2 | 121530927 | non coding transcript exon variant | G/A | snv | 4.6E-05; 7.7E-06 | 4.9E-05 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.120 | X | 72495210 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | 17 | 63947062 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
11 | 103256241 | splice donor variant | G/A;C | snv | 4.4E-06 |
|
0.700 | 0 | |||||||||||||
|
0.882 | 0.160 | 17 | 47946670 | missense variant | G/A;T | snv | 4.0E-05 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.400 | 20 | 32433355 | frameshift variant | GT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.240 | 2 | 162273810 | missense variant | T/A | snv |
|
0.700 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
0.742 | 0.400 | 16 | 5079078 | missense variant | T/C | snv |
|
0.700 | 0 |