FBXO32 missense variants in ExAC

FBXO32 gene summary
FBXO32 variants in

The table below lists the FBXO32 missense variants found in the ExAC population database. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord.✝ Variant (CDS)▼ Variant (Protein) Variant Type▼ ExAC frequency▼Populations*
1. 124547004 c.167A>G p.N56S missense 0.02040968●●●●●●
2. 124516917 c.905G>A p.R302Q missense 0.00117822●●●●●●
3. 124518796 c.670A>G p.T224A missense 0.00022332●●●●●●
4. 124518736 c.730C>T p.R244W missense 0.00016554●●●●●●
5. 124553164 c.91G>A p.G31S missense 0.00015989●●●●●●
6. 124518678 c.788G>A p.R263Q missense 0.00009162●●●●●●
7. 124516977 c.845G>A p.R282Q missense 0.00008338●●●●●●
8. 124518703 c.763G>A p.D255N missense 0.00007461●●●●●●
9. 124518801 c.665G>C p.G222A missense 0.00005182●●●●●●
10. 124516980 c.842A>G p.K281R missense 0.00005010●●●●●●
11. 124515701 c.980G>T p.G327V missense 0.00004978●●●●●●
12. 124516924 c.898C>T p.L300F missense 0.00004120●●●●●●
13. 124553214 c.41A>G p.N14S missense 0.00003376●●●●●●
14. 124515657 c.1024G>A p.V342I missense 0.00003296●●●●●●
15. 124516908 c.914C>G p.P305R missense 0.00002472●●●●●●
16. 124525484 c.605C>T p.T202M missense 0.00002472●●●●●●
17. 124518636 c.830G>A p.R277Q missense 0.00001760●●●●●●
18. 124525614 c.475G>A p.D159N missense 0.00001720●●●●●●
19. 124553154 c.101T>C p.V34A missense 0.00001697●●●●●●
20. 124526548 c.398A>T p.Q133L missense 0.00001687●●●●●●
21. 124518776 c.690G>C p.L230F missense 0.00001683●●●●●●
22. 124518771 c.695T>C p.L232P missense 0.00001679●●●●●●
23. 124516984 c.838C>T p.R280C missense 0.00001675●●●●●●
24. 124545456 c.254A>G p.Y85C missense 0.00001664●●●●●●
25. 124525593 c.496A>G p.I166V missense 0.00001663●●●●●●
26. 124518739 c.727G>A p.G243R missense 0.00001656●●●●●●
27. 124518735 c.731G>A p.R244Q missense 0.00001655●●●●●●
28. 124544140 c.370C>T p.R124W missense 0.00001651●●●●●●
29. 124515684 c.997A>T p.T333S missense 0.00001650●●●●●●
30. 124544146 c.364G>C p.V122L missense 0.00001650●●●●●●
31. 124516875 c.947T>A p.L316H missense 0.00001650●●●●●●
32. 124525518 c.571G>A p.G191R missense 0.00001648●●●●●●
33. 124525469 c.620A>G p.Q207R missense 0.00001648●●●●●●
34. 124553252 c.3G>T p.Met1? missense 0.00000887●●●●●●
35. 124526559 c.387A>G p.I129M missense 0.00000853●●●●●●
36. 124518789 c.677C>T p.T226I missense 0.00000852●●●●●●
37. 124518785 c.681C>A p.D227E missense 0.00000850●●●●●●
38. 124553221 c.34G>C p.G12R missense 0.00000849●●●●●●
39. 124525610 c.479A>T p.Q160L missense 0.00000847●●●●●●
40. 124553163 c.92G>A p.G31D missense 0.00000842●●●●●●
41. 124553164 c.91G>T p.G31C missense 0.00000842●●●●●●
42. 124518657 c.809G>A p.C270Y missense 0.00000841●●●●●●
43. 124553195 c.60C>A p.D20E missense 0.00000840●●●●●●
44. 124553199 c.56C>T p.A19V missense 0.00000840●●●●●●
45. 124553193 c.62G>T p.G21V missense 0.00000840●●●●●●
46. 124526528 c.418A>G p.I140V missense 0.00000837●●●●●●
47. 124516983 c.839G>A p.R280H missense 0.00000837●●●●●●
48. 124545464 c.246A>C p.K82N missense 0.00000833●●●●●●
49. 124518681 c.785A>G p.D262G missense 0.00000832●●●●●●
50. 124518756 c.710T>C p.M237T missense 0.00000831●●●●●●
51. 124545432 c.278A>T p.E93V missense 0.00000831●●●●●●
52. 124516855 c.967C>A p.L323I missense 0.00000830●●●●●●
53. 124518694 c.772G>A p.V258M missense 0.00000830●●●●●●
54. 124518694 c.772G>T p.V258L missense 0.00000830●●●●●●
55. 124525589 c.500G>A p.R167K missense 0.00000830●●●●●●
56. 124518750 c.716G>A p.R239K missense 0.00000829●●●●●●
57. 124518702 c.764A>G p.D255G missense 0.00000829●●●●●●
58. 124518727 c.739G>T p.V247F missense 0.00000828●●●●●●
59. 124518742 c.724G>A p.D242N missense 0.00000828●●●●●●
60. 124518718 c.748G>A p.G250S missense 0.00000828●●●●●●
61. 124515689 c.992C>T p.P331L missense 0.00000826●●●●●●
62. 124544139 c.371G>T p.R124L missense 0.00000826●●●●●●
63. 124544229 c.281G>A p.R94H missense 0.00000825●●●●●●
64. 124544143 c.367G>A p.V123I missense 0.00000825●●●●●●
65. 124525569 c.520T>C p.Y174H missense 0.00000825●●●●●●
66. 124525455 c.634A>T p.N212Y missense 0.00000825●●●●●●
67. 124544223 c.287G>A p.G96E missense 0.00000825●●●●●●
68. 124525454 c.635A>G p.N212S missense 0.00000825●●●●●●
69. 124515673 c.1008C>A p.N336K missense 0.00000825●●●●●●
70. 124516950 c.872T>C p.L291P missense 0.00000825●●●●●●
71. 124546972 c.199G>A p.D67N missense 0.00000824●●●●●●
72. 124516940 c.882G>T p.K294N missense 0.00000824●●●●●●
73. 124544188 c.322G>T p.D108Y missense 0.00000824●●●●●●
74. 124516905 c.917G>C p.R306T missense 0.00000824●●●●●●
75. 124516941 c.881A>G p.K294R missense 0.00000824●●●●●●
76. 124544193 c.317G>A p.R106K missense 0.00000824●●●●●●
77. 124515637 c.1044C>G p.D348E missense 0.00000824●●●●●●
78. 124544157 c.353G>A p.R118K missense 0.00000824●●●●●●
79. 124516942 c.880A>G p.K294E missense 0.00000824●●●●●●
80. 124525506 c.583A>C p.M195L missense 0.00000824●●●●●●
81. 124516924 c.898C>A p.L300I missense 0.00000824●●●●●●
82. 124525504 c.585G>A p.M195I missense 0.00000824●●●●●●
83. 124544179 c.331A>G p.T111A missense 0.00000824●●●●●●

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

✝ Genomic coordinates refer to the GRCh37 release of the human genome.