| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 56152275 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1 | 56467292 | intron variant | AAAAA/-;A;AA;AAA;AAAA;AAAAAA;AAAAAAA;AAAAAAAA | delins | 0.87 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 183873970 | intron variant | T/C | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 220015795 | intron variant | AAA/-;A;AA;AAAA | delins | 0.64 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 205258632 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1 | 117610389 | intron variant | A/C | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.925 | 0.120 | 1 | 155291918 | missense variant | G/A | snv | 3.0E-03 | 2.8E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 3774964 | intron variant | A/G | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 205213737 | upstream gene variant | G/C | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 199007363 | non coding transcript exon variant | C/T | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.040 | 1 | 22375738 | intergenic variant | T/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1 | 247875992 | missense variant | G/A | snv | 0.12 | 0.10 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1 | 158668470 | intron variant | G/A | snv | 8.0E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 155301643 | upstream gene variant | A/- | del | 4.4E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 199041592 | non coding transcript exon variant | C/T | snv | 0.76 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 183878145 | intron variant | TTCTTTCT/-;TTCT;TTCTTTCTTTCT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1 | 21687978 | intron variant | G/T | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.120 | 1 | 203312047 | downstream gene variant | G/C | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1 | 45345193 | missense variant | G/A | snv | 5.2E-02 | 5.1E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1 | 158613814 | missense variant | C/A | snv | 3.5E-04 | 4.0E-04 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1 | 158617176 | intron variant | A/T | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 158612753 | non coding transcript exon variant | G/A | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 25406057 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1 | 45547076 | upstream gene variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1 | 117605270 | intron variant | T/C | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |