CPLANE1, ciliogenesis and planar polarity effector 1, 65250
N. diseases: 120; N. variants: 86
Source: ALL
| Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 5 | 37148216 | frameshift variant | -/C | ins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 5 | 37148216 | frameshift variant | -/C | ins |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 5 | 37184955 | frameshift variant | T/- | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.925 | 0.080 | 5 | 37139371 | splice acceptor variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 5 | 37139371 | splice acceptor variant | C/G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.080 | 5 | 37164272 | splice donor variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 5 | 37164272 | splice donor variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 5 | 37182833 | missense variant | G/T | snv | 1.2E-05 | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
5 | 37075443 | regulatory region variant | T/G | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 5 | 37231020 | missense variant | G/A | snv | 2.6E-05 | 2.8E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 5 | 37120306 | stop gained | G/A | snv | 3.1E-05 | 1.9E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.925 | 0.080 | 5 | 37120306 | stop gained | G/A | snv | 3.1E-05 | 1.9E-04 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 5 | 37226811 | stop gained | A/C | snv | 8.4E-05 | 6.3E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 5 | 37153962 | frameshift variant | TC/- | del |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.925 | 0.080 | 5 | 37244521 | missense variant | C/T | snv | 1.2E-04 | 1.4E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.925 | 0.080 | 5 | 37244521 | missense variant | C/T | snv | 1.2E-04 | 1.4E-04 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 5 | 37183538 | missense variant | T/C;G | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 5 | 37221459 | missense variant | G/A;T | snv | 3.5E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 5 | 37170233 | frameshift variant | CA/- | delins | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 5 | 37125315 | frameshift variant | C/- | delins | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 5 | 37180021 | stop gained | A/C | snv | 1.5E-05 | 2.8E-05 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 5 | 37206347 | missense variant | C/A | snv | 6.4E-06 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.080 | 5 | 37148217 | frameshift variant | T/-;TT | delins | 4.0E-06; 8.0E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 5 | 37224655 | stop gained | G/A | snv | 1.3E-05 | 6.3E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 5 | 37244435 | frameshift variant | A/-;AA | delins | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 |