Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 6 | 63721609 | missense variant | C/T | snv | 5.1E-03 | 7.0E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 6 | 63789144 | missense variant | C/G | snv | 4.5E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 6 | 63721252 | missense variant | A/G | snv | 3.8E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 6 | 64590909 | frameshift variant | -/T | delins | 6.6E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 6 | 63721226 | stop gained | G/T | snv | 3.2E-05 | 2.1E-05 | 0.710 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.080 | 6 | 63762520 | stop gained | A/T | snv | 1.3E-05 | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 6 | 64912505 | stop gained | G/A | snv | 3.8E-05 | 5.6E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 6 | 63726641 | stop gained | A/C | snv | 3.9E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.080 | 6 | 64591035 | frameshift variant | AATG/- | delins | 7.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 6 | 64591822 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 6 | 65405253 | missense variant | C/T | snv | 1.8E-03 | 3.7E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 6 | 64593219 | stop gained | G/A;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 6 | 64081882 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 64388841 | splice acceptor variant | CTG/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 63721353 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 64590459 | stop gained | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 64590525 | stop gained | ACTGAGCCTGTCAATGGTGGCAGATT/TA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 63984501 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 64081925 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 63778111 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 63984390 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 63721651 | frameshift variant | -/TGCA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 64590664 | frameshift variant | CA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 65334996 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 6 | 64591464 | frameshift variant | -/CCTCTTGA | delins | 0.700 | 0 |