| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 2 | 9995553 | intron variant | C/G | snv | 8.8E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 3 | 99682866 | intron variant | G/- | delins | 0.60 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 7 | 98397243 | intron variant | CT/- | delins | 0.24 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 12 | 95633983 | intron variant | A/G | snv | 0.28 |
|
0.700 | 1.000 | 4 | 2013 | 2017 | ||||||||
|
1.000 | 0.080 | 7 | 94758031 | intergenic variant | G/T | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 7 | 94655777 | intron variant | -/AA;AAA;AAAA | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 7 | 94484487 | intergenic variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 7 | 93719703 | intron variant | C/T | snv | 0.90 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 10 | 93532431 | downstream gene variant | AAAAAAA/-;AA;AAA;AAAA;AAAAA;AAAAAA;AAAAAAAA;AAAAAAAAA;AAAAAAAAAA;AAAAAAAAAAA;AAAAAAAAAAAA | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 7 | 93388705 | intergenic variant | G/A | snv | 7.7E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 14 | 92637727 | intron variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
1.000 | 0.080 | 10 | 92388574 | intergenic variant | A/T | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 7 | 92344194 | intron variant | TTTTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 7 | 92243558 | intron variant | -/T | delins | 0.40 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 7 | 92143417 | intron variant | G/- | delins | 0.44 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 7 | 92022864 | protein altering variant | -/AAC | delins | 0.39 | 0.46 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.851 | 0.120 | 7 | 92001306 | missense variant | G/T | snv | 0.38 | 0.42 |
|
0.720 | 1.000 | 2 | 2008 | 2017 | |||||||
|
0.925 | 0.080 | 5 | 91979496 | intergenic variant | T/C | snv | 0.75 |
|
0.710 | 1.000 | 2 | 2013 | 2016 | ||||||||
|
1.000 | 0.080 | 4 | 91717049 | intergenic variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 14 | 91545453 | intergenic variant | TTCT/- | delins | 0.18 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 5 | 91493653 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.080 | 5 | 91436408 | intron variant | C/T | snv | 0.23 |
|
0.710 | 1.000 | 2 | 2014 | 2017 | ||||||||
|
1.000 | 0.080 | 14 | 91422581 | upstream gene variant | AAA/-;A;AA;AAAA;AAAAA;AAAAAAAAAA | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.080 | 14 | 91374725 | intron variant | A/G | snv | 0.46 |
|
0.710 | 1.000 | 3 | 2013 | 2017 | ||||||||
|
1.000 | 0.080 | 5 | 91367022 | downstream gene variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 |