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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.724 | 0.160 | 19 | 17278895 | synonymous variant | G/A | snv | 0.15 | 0.18 |
|
0.850 | 0.875 | 8 | 2010 | 2016 | |||||||
|
0.724 | 0.160 | 19 | 17278895 | synonymous variant | G/A | snv | 0.15 | 0.18 |
|
0.750 | 0.833 | 6 | 2010 | 2014 | |||||||
|
0.724 | 0.160 | 19 | 17278895 | synonymous variant | G/A | snv | 0.15 | 0.18 |
|
0.720 | 1.000 | 3 | 2010 | 2016 | |||||||
|
0.724 | 0.160 | 19 | 17278895 | synonymous variant | G/A | snv | 0.15 | 0.18 |
|
0.710 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.701 | 0.280 | 19 | 17279482 | intron variant | T/C | snv | 0.26 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.701 | 0.280 | 19 | 17279482 | intron variant | T/C | snv | 0.26 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
1.000 | 0.080 | 19 | 17273194 | intron variant | C/A | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 19 | 17278839 | splice region variant | C/T | snv | 0.15 | 0.18 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.080 | 19 | 17274367 | intron variant | T/C | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 19 | 17275197 | intron variant | A/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 19 | 17275298 | intron variant | A/T | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 19 | 17280519 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.080 | 19 | 17271696 | intron variant | A/T | snv | 0.42 | 0.50 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.080 | 19 | 17268749 | splice region variant | C/T | snv | 0.17 | 0.23 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.080 | 19 | 17278347 | intron variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 19 | 17274572 | intron variant | AA/-;A;AAA | delins | 0.43 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 19 | 17279669 | intron variant | C/T | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 19 | 17279770 | intron variant | C/T | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 19 | 17266139 | intron variant | G/T | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 19 | 17266749 | intron variant | C/G;T | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 19 | 17276367 | intron variant | A/G | snv | 0.14 | 0.17 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.080 | 19 | 17266140 | intron variant | TT/-;T;TTT;TTTT | delins | 0.13 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 19 | 17275299 | intron variant | T/-;TT;TTT | delins |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.080 | 19 | 17272181 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.080 | 19 | 17273458 | intron variant | G/A | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2010 | 2010 |