Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 4445159 | 3 prime UTR variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
19 | 4429010 | intron variant | C/G;T | snv | 0.19 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||||
|
19 | 4429010 | intron variant | C/G;T | snv | 0.19 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||||
|
19 | 4434506 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
19 | 4434506 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
19 | 4437092 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
19 | 4442339 | missense variant | C/G;T | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
19 | 4423422 | intron variant | C/T | snv | 0.18 | 0.17 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
19 | 4413738 | intron variant | C/T | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
19 | 4444859 | 3 prime UTR variant | C/T | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
19 | 4444446 | intron variant | C/T | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 4406163 | intron variant | G/A | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
19 | 4432976 | intron variant | G/A | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
19 | 4439528 | intron variant | G/A | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
19 | 4442532 | intron variant | T/C | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
19 | 4426168 | intron variant | TTTTTTTT/-;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
19 | 4426168 | intron variant | TTTTTTTT/-;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 |