| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.701 | 0.400 | 22 | 37066896 | missense variant | A/G;T | snv | 0.57; 4.0E-06 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
3 | 169450583 | intron variant | AAA/-;A;AA;AAAA;AAAAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
11 | 47866484 | intergenic variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
6 | 2050557 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
5 | 40494576 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
14 | 64236875 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
0.851 | 0.120 | 4 | 102363708 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1 | 3402268 | intron variant | -/C;CC | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
3 | 56710234 | intergenic variant | AACAAA/-;AACAAAAACAAA;AACAAAAACAAAAACAAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
0.827 | 0.160 | 2 | 27412596 | upstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
12 | 59216246 | intergenic variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
21 | 15205839 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
21 | 15413369 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
4 | 54542708 | intergenic variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
18 | 48934533 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
0.882 | 0.200 | 9 | 133266456 | intron variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.724 | 0.240 | 11 | 5227002 | missense variant | T/A;C;G | snv | 3.5E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
3 | 69756466 | intron variant | TT/-;T;TTT;TTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
7 | 631957 | intron variant | AAA/-;AA;AAAA;AAAAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
15 | 56439447 | intron variant | AAAAAA/-;AAAA;AAAAA;AAAAAAA | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 214013919 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
9 | 2622147 | 5 prime UTR variant | GGCGGCGGCGGC/-;GGC;GGCGGC;GGCGGCGGC;GGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
0.790 | 0.280 | 10 | 112996282 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.120 | 5 | 75463358 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |