| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | 3 | 38551505 | stop gained | G/A;T | snv |
|
0.700 | 1.000 | 4 | 2003 | 2010 | |||||||||
|
0.851 | 0.120 | 3 | 38606058 | missense variant | C/T | snv |
|
0.800 | 1.000 | 1 | 1995 | 2016 | |||||||||
|
0.807 | 0.120 | 3 | 38551504 | missense variant | C/A;T | snv |
|
0.840 | 1.000 | 0 | 1995 | 2017 | |||||||||
|
1.000 | 0.120 | 3 | 38581337 | missense variant | GA/TT | mnv |
|
0.800 | 1.000 | 0 | 1995 | 2017 | |||||||||
|
0.882 | 0.120 | 3 | 38550988 | missense variant | T/C | snv |
|
0.810 | 1.000 | 0 | 1995 | 2017 | |||||||||
|
1.000 | 0.120 | 3 | 38551076 | missense variant | T/A;C;G | snv |
|
0.800 | 1.000 | 0 | 1995 | 2017 | |||||||||
|
0.882 | 0.120 | 3 | 38551070 | missense variant | T/C | snv | 7.0E-06 |
|
0.810 | 1.000 | 0 | 1995 | 2017 | ||||||||
|
0.882 | 0.120 | 3 | 38560418 | missense variant | T/C | snv |
|
0.800 | 1.000 | 0 | 1995 | 2015 | |||||||||
|
0.925 | 0.120 | 3 | 38555671 | inframe deletion | GGGGCTTCT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 3 | 38550984 | protein altering variant | -/CAT | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 3 | 38613782 | stop gained | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 3 | 38551441 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 4 | 1995 | 2015 | ||||||||
|
0.776 | 0.120 | 3 | 38551022 | stop gained | C/A;T | snv | 4.0E-06 |
|
0.820 | 1.000 | 6 | 1995 | 2018 | ||||||||
|
0.732 | 0.120 | 3 | 38613781 | missense variant | C/A;T | snv | 4.1E-06 |
|
0.800 | 1.000 | 0 | 1995 | 2015 | ||||||||
|
0.790 | 0.120 | 3 | 38604035 | missense variant | G/A;T | snv | 8.4E-06; 4.2E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.120 | 3 | 38614063 | stop gained | A/C;T | snv | 4.7E-06 |
|
0.700 | 0 | |||||||||||
|
0.742 | 0.120 | 3 | 38566426 | missense variant | C/A;T | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.763 | 0.120 | 3 | 38606710 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 |
|
0.800 | 1.000 | 0 | 1995 | 2015 | |||||||
|
0.882 | 0.120 | 3 | 38551486 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.160 | 3 | 38613773 | missense variant | G/A | snv | 1.2E-05 | 8.4E-05 |
|
0.800 | 1.000 | 0 | 1995 | 2015 | |||||||
|
0.882 | 0.120 | 3 | 38555697 | missense variant | G/C | snv | 2.0E-05 |
|
0.800 | 1.000 | 0 | 1995 | 2015 | ||||||||
|
0.882 | 0.120 | 3 | 38551520 | inframe deletion | AAG/- | delins | 2.0E-05 |
|
0.700 | 1.000 | 2 | 2003 | 2005 | ||||||||
|
1.000 | 0.120 | 3 | 38603998 | missense variant | C/T | snv | 2.0E-05 | 7.0E-06 |
|
0.800 | 1.000 | 0 | 1995 | 2015 | |||||||
|
1.000 | 0.120 | 3 | 38551495 | missense variant | C/A;G;T | snv | 4.0E-05 |
|
0.810 | 1.000 | 0 | 1995 | 2017 | ||||||||
|
0.882 | 0.120 | 3 | 38562422 | missense variant | C/A | snv | 4.2E-05 | 2.8E-05 |
|
0.700 | 0 |