MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2, C3150411
Source: ALL
| 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 | 0.120 | 14 | 77291380 | missense variant | C/A | snv | 0.800 | 1.000 | 5 | 2005 | 2012 | |||||
|
1 | 1.000 | 0.120 | 14 | 77285520 | missense variant | C/A | snv | 4.0E-06 | 0.800 | 1.000 | 5 | 2005 | 2012 | ||||
|
2 | 0.925 | 0.120 | 14 | 77277452 | missense variant | C/T | snv | 0.800 | 1.000 | 5 | 2005 | 2012 | |||||
|
2 | 0.925 | 0.120 | 14 | 77296223 | missense variant | C/A;T | snv | 1.2E-05 | 0.800 | 1.000 | 5 | 2005 | 2012 | ||||
|
5 | 0.827 | 0.160 | 14 | 77278764 | missense variant | T/C | snv | 5.6E-05 | 9.8E-05 | 0.800 | 1.000 | 3 | 2007 | 2014 | |||
|
1 | 1.000 | 0.120 | 14 | 77302898 | missense variant | A/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 5 | 2005 | 2012 | |||
|
1 | 1.000 | 0.120 | 14 | 77285532 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 5 | 2005 | 2012 | |||
|
3 | 0.882 | 0.120 | 14 | 77280051 | frameshift variant | GT/- | delins | 0.700 | 1.000 | 3 | 2007 | 2017 | |||||
|
3 | 0.882 | 0.120 | 14 | 77298773 | splice acceptor variant | T/C;G | snv | 7.0E-06 | 0.700 | 1.000 | 3 | 2005 | 2015 | ||||
|
3 | 0.882 | 0.120 | 14 | 77285042 | splice acceptor variant | CT/- | del | 7.0E-06 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
3 | 0.882 | 0.120 | 14 | 77320433 | splice donor variant | C/A;G | snv | 1.4E-05 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.120 | 14 | 77278849 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 14 | 77302843 | stop gained | G/A;C;T | snv | 1.4E-04; 1.2E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.120 | 14 | 77286782 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 14 | 77285548 | stop gained | G/A | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 14 | 77298688 | splice donor variant | C/T | snv | 2.8E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 14 | 77286815 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 14 | 77298737 | stop gained | G/A | snv | 1.2E-05 | 0.700 | 0 |