FBXO32 variants in ExAC

FBXO32 gene summary
FBXO32 variants in

The table below lists the FBXO32 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. 124544240 c.280-10T>G splice site 0.00032218●●●●●●
4. 124518796 c.670A>G p.T224A missense 0.00022332●●●●●●
5. 124518818 c.652-4G>A splice site 0.00022056●●●●●●
6. 124518736 c.730C>T p.R244W missense 0.00016554●●●●●●
7. 124553164 c.91G>A p.G31S missense 0.00015989●●●●●●
8. 124518678 c.788G>A p.R263Q missense 0.00009162●●●●●●
9. 124516977 c.845G>A p.R282Q missense 0.00008338●●●●●●
10. 124518703 c.763G>A p.D255N missense 0.00007461●●●●●●
11. 124526474 c.466+6C>A splice site 0.00006276●●●●●●
12. 124518801 c.665G>C p.G222A missense 0.00005182●●●●●●
13. 124516980 c.842A>G p.K281R missense 0.00005010●●●●●●
14. 124515701 c.980G>T p.G327V missense 0.00004978●●●●●●
15. 124544129 c.372+9C>T splice site 0.00004964●●●●●●
16. 124516924 c.898C>T p.L300F missense 0.00004120●●●●●●
17. 124553214 c.41A>G p.N14S missense 0.00003376●●●●●●
18. 124547057 c.117-3T>C splice site 0.00003311●●●●●●
19. 124515657 c.1024G>A p.V342I missense 0.00003296●●●●●●
20. 124525484 c.605C>T p.T202M missense 0.00002472●●●●●●
21. 124516908 c.914C>G p.P305R missense 0.00002472●●●●●●
22. 124553131 c.116+8G>A splice site 0.00001857●●●●●●
23. 124518636 c.830G>A p.R277Q missense 0.00001760●●●●●●
24. 124525614 c.475G>A p.D159N missense 0.00001720●●●●●●
25. 124553154 c.101T>C p.V34A missense 0.00001697●●●●●●
26. 124526548 c.398A>T p.Q133L missense 0.00001687●●●●●●
27. 124518776 c.690G>C p.L230F missense 0.00001683●●●●●●
28. 124516990 c.835-3dupT splice site 0.00001681●●●●●●
29. 124518771 c.695T>C p.L232P missense 0.00001679●●●●●●
30. 124516984 c.838C>T p.R280C missense 0.00001675●●●●●●
31. 124545456 c.254A>G p.Y85C missense 0.00001664●●●●●●
32. 124525593 c.496A>G p.I166V missense 0.00001663●●●●●●
33. 124518739 c.727G>A p.G243R missense 0.00001656●●●●●●
34. 124518735 c.731G>A p.R244Q missense 0.00001655●●●●●●
35. 124546936 c.229+6C>A splice site 0.00001652●●●●●●
36. 124544140 c.370C>T p.R124W missense 0.00001651●●●●●●
37. 124544237 c.280-7dupT splice site 0.00001651●●●●●●
38. 124516875 c.947T>A p.L316H missense 0.00001650●●●●●●
39. 124515684 c.997A>T p.T333S missense 0.00001650●●●●●●
40. 124544146 c.364G>C p.V122L missense 0.00001650●●●●●●
41. 124525469 c.620A>G p.Q207R missense 0.00001648●●●●●●
42. 124525518 c.571G>A p.G191R missense 0.00001648●●●●●●
43. 124525628 c.467-6C>T splice site 0.00000940●●●●●●
44. 124526581 c.373-8A>C splice site 0.00000903●●●●●●
45. 124526578 c.373-5C>G splice site 0.00000896●●●●●●
46. 124553252 c.3G>T p.Met1? missense 0.00000887●●●●●●
47. 124526571 c.375G>T splice site 0.00000878●●●●●●
48. 124526559 c.387A>G p.I129M missense 0.00000853●●●●●●
49. 124518789 c.677C>T p.T226I missense 0.00000852●●●●●●
50. 124518785 c.681C>A p.D227E missense 0.00000850●●●●●●
51. 124518788 c.678_681delTGAC p.Asp227CysfsTer7 frameshift 0.00000850●●●●●●
52. 124553221 c.34G>C p.G12R missense 0.00000849●●●●●●
53. 124525610 c.479A>T p.Q160L missense 0.00000847●●●●●●
54. 124516994 c.835-7T>G splice site 0.00000843●●●●●●
55. 124553163 c.92G>A p.G31D missense 0.00000842●●●●●●
56. 124553164 c.91G>T p.G31C missense 0.00000842●●●●●●
57. 124518657 c.809G>A p.C270Y missense 0.00000841●●●●●●
58. 124553195 c.60C>A p.D20E missense 0.00000840●●●●●●
59. 124553199 c.56C>T p.A19V missense 0.00000840●●●●●●
60. 124553193 c.62G>T p.G21V missense 0.00000840●●●●●●
61. 124516840 c.978+4T>C splice site 0.00000838●●●●●●
62. 124545488 c.230-8C>G splice site 0.00000838●●●●●●
63. 124516983 c.839G>A p.R280H missense 0.00000837●●●●●●
64. 124526528 c.418A>G p.I140V missense 0.00000837●●●●●●
65. 124545464 c.246A>C p.K82N missense 0.00000833●●●●●●
66. 124518681 c.785A>G p.D262G missense 0.00000832●●●●●●
67. 124518756 c.710T>C p.M237T missense 0.00000831●●●●●●
68. 124545432 c.278A>T p.E93V missense 0.00000831●●●●●●
69. 124525589 c.500G>A p.R167K missense 0.00000830●●●●●●
70. 124518694 c.772G>T p.V258L missense 0.00000830●●●●●●
71. 124518694 c.772G>A p.V258M missense 0.00000830●●●●●●
72. 124516855 c.967C>A p.L323I missense 0.00000830●●●●●●
73. 124518702 c.764A>G p.D255G missense 0.00000829●●●●●●
74. 124518750 c.716G>A p.R239K missense 0.00000829●●●●●●
75. 124547058 c.117-4A>G splice site 0.00000828●●●●●●
76. 124518727 c.739G>T p.V247F missense 0.00000828●●●●●●
77. 124518718 c.748G>A p.G250S missense 0.00000828●●●●●●
78. 124518742 c.724G>A p.D242N missense 0.00000828●●●●●●
79. 124525432 c.651+6C>T splice site 0.00000827●●●●●●
80. 124544140 c.370C>A splice site 0.00000826●●●●●●
81. 124544237 c.280-7T>C splice site 0.00000826●●●●●●
82. 124544139 c.371G>T p.R124L missense 0.00000826●●●●●●
83. 124515689 c.992C>T p.P331L missense 0.00000826●●●●●●
84. 124544223 c.287G>A p.G96E missense 0.00000825●●●●●●
85. 124516944 c.878G>A p.W293X nonsense 0.00000825●●●●●●
86. 124525454 c.635A>G p.N212S missense 0.00000825●●●●●●
87. 124544229 c.281G>A p.R94H missense 0.00000825●●●●●●
88. 124515673 c.1008C>A p.N336K missense 0.00000825●●●●●●
89. 124544143 c.367G>A p.V123I missense 0.00000825●●●●●●
90. 124516950 c.872T>C p.L291P missense 0.00000825●●●●●●
91. 124525455 c.634A>T p.N212Y missense 0.00000825●●●●●●
92. 124525569 c.520T>C p.Y174H missense 0.00000825●●●●●●
93. 124515637 c.1044C>G p.D348E missense 0.00000824●●●●●●
94. 124546972 c.199G>A p.D67N missense 0.00000824●●●●●●
95. 124544179 c.331A>G p.T111A missense 0.00000824●●●●●●
96. 124516924 c.898C>A p.L300I missense 0.00000824●●●●●●
97. 124516940 c.882G>T p.K294N missense 0.00000824●●●●●●
98. 124544188 c.322G>T p.D108Y missense 0.00000824●●●●●●
99. 124516941 c.881A>G p.K294R missense 0.00000824●●●●●●
100. 124525504 c.585G>A p.M195I missense 0.00000824●●●●●●
101. 124516905 c.917G>C p.R306T missense 0.00000824●●●●●●
102. 124544193 c.317G>A p.R106K missense 0.00000824●●●●●●
103. 124544157 c.353G>A p.R118K missense 0.00000824●●●●●●
104. 124516942 c.880A>G p.K294E missense 0.00000824●●●●●●
105. 124525506 c.583A>C p.M195L 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.