TRIM63 missense variants in ExAC


The table below lists the TRIM63 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 frequencyPopulations*
1. 26385003 c.709A>G p.K237E missense 0.19212326
2. 26384907 c.805G>A p.E269K missense 0.00337053
3. 26393843 c.143C>T p.A48V missense 0.00125778
4. 26385068 c.644C>T p.T215M missense 0.00033044
5. 26380423 c.1012G>T p.D338Y missense 0.00028924
6. 26392916 c.175T>C p.W59R missense 0.00022137
7. 26385059 c.653C>T p.A218V missense 0.00020635
8. 26383717 c.956T>C p.L319P missense 0.00014831
9. 26387820 c.338C>T p.P113L missense 0.00014138
10. 26387780 c.378A>T p.E126D missense 0.00014015
11. 26392867 c.224G>A p.C75Y missense 0.00013513
12. 26392777 c.314A>G p.Y105C missense 0.00011545
13. 26392870 c.221G>A p.R74H missense 0.00010183
14. 26392828 c.263G>C p.G88A missense 0.00009084
15. 26386818 c.536C>T p.A179V missense 0.00007418
16. 26392921 c.170C>T p.P57L missense 0.00006930
17. 26392856 c.235C>T p.R79C missense 0.00006691
18. 26385080 c.632A>G p.Q211R missense 0.00006618
19. 26387768 c.390C>G p.I130M missense 0.00006594
20. 26385024 c.688C>T p.R230W missense 0.00005767
21. 26383741 c.932A>G p.D311G missense 0.00005766
22. 26392871 c.220C>T p.R74C missense 0.00005091
23. 26387695 c.463G>A p.E155K missense 0.00004950
24. 26392876 c.215G>A p.R72H missense 0.00004267
25. 26392873 c.218T>C p.F73S missense 0.00004250
26. 26387824 c.334C>T p.R112W missense 0.00004176
27. 26386831 c.523T>C p.S175P missense 0.00004122
28. 26386806 c.548G>A p.R183H missense 0.00004121
29. 26383715 c.958A>G p.R320G missense 0.00004120
30. 26384981 c.731C>T p.A244V missense 0.00004118
31. 26387724 c.434G>A p.C145Y missense 0.00003296
32. 26383789 c.884T>C p.L295P missense 0.00003296
33. 26387733 c.425G>A p.C142Y missense 0.00003296
34. 26393918 c.68G>A p.C23Y missense 0.00003296
35. 26384986 c.726C>G p.I242M missense 0.00003295
36. 26392907 c.184C>T p.R62W missense 0.00002784
37. 26392855 c.236G>A p.R79H missense 0.00002500
38. 26386767 c.587G>A p.R196Q missense 0.00002474
39. 26387788 c.370G>C p.E124Q missense 0.00002474
40. 26386770 c.584G>A p.R195H missense 0.00002474
41. 26393945 c.41T>C p.M14T missense 0.00002473
42. 26384124 c.849C>G p.I283M missense 0.00001750
43. 26392883 c.208G>A p.G70R missense 0.00001725
44. 26387823 c.335G>A p.R112Q missense 0.00001667
45. 26393972 c.14C>T p.S5L missense 0.00001652
46. 26392835 c.256C>T p.R86C missense 0.00001652
47. 26385068 c.644C>A p.T215K missense 0.00001652
48. 26383816 c.857T>C p.I286T missense 0.00001652
49. 26387801 c.357C>A p.H119Q missense 0.00001651
50. 26392811 c.280A>G p.R94G missense 0.00001650
51. 26392766 c.325T>A p.C109S missense 0.00001650
52. 26386782 c.572T>C p.L191P missense 0.00001649
53. 26386771 c.583C>T p.R195C missense 0.00001649
54. 26386828 c.526A>T p.M176L missense 0.00001649
55. 26393879 c.107T>C p.I36T missense 0.00001649
56. 26385039 c.673A>G p.S225G missense 0.00001649
57. 26383708 c.965T>C p.I322T missense 0.00001648
58. 26384907 c.805G>C p.E269Q missense 0.00001648
59. 26383780 c.893C>T p.T298I missense 0.00001648
60. 26387742 c.416T>A p.V139E missense 0.00001648
61. 26385017 c.695C>T p.T232M missense 0.00001647
62. 26384985 c.727G>A p.E243K missense 0.00001647
63. 26384975 c.737T>A p.I246N missense 0.00001647
64. 26385012 c.700G>A p.E234K missense 0.00001647
65. 26392927 c.164C>T p.A55V missense 0.00001035
66. 26392913 c.178A>C p.T60P missense 0.00000951
67. 26392904 c.187G>A p.G63S missense 0.00000920
68. 26384129 c.844C>T p.L282F missense 0.00000876
69. 26384129 c.844C>A p.L282I missense 0.00000876
70. 26392877 c.214C>T p.R72C missense 0.00000854
71. 26387658 c.500A>G p.K167R missense 0.00000834
72. 26387821 c.337C>G p.P113A missense 0.00000833
73. 26392848 c.243G>T p.E81D missense 0.00000831
74. 26387665 c.493G>A p.G165R missense 0.00000831
75. 26385103 c.609C>A p.H203Q missense 0.00000830
76. 26392843 c.248T>A p.I83N missense 0.00000828
77. 26393980 c.6T>A p.D2E missense 0.00000828
78. 26387808 c.350G>T p.G117V missense 0.00000827
79. 26393978 c.8A>T p.Y3F missense 0.00000827
80. 26393853 c.133C>T p.R45W missense 0.00000826
81. 26392829 c.262G>C p.G88R missense 0.00000826
82. 26385062 c.650A>G p.Y217C missense 0.00000826
83. 26392830 c.261C>G p.H87Q missense 0.00000826
84. 26380416 c.1019A>G p.E340G missense 0.00000826
85. 26383694 c.979G>T p.D327Y missense 0.00000825
86. 26392810 c.281G>A p.R94K missense 0.00000825
87. 26387697 c.461G>A p.C154Y missense 0.00000825
88. 26392786 c.305T>A p.I102N missense 0.00000825
89. 26384898 c.814G>A p.G272R missense 0.00000825
90. 26393874 c.112C>T p.P38S missense 0.00000825
91. 26387793 c.365G>T p.C122F missense 0.00000825
92. 26387701 c.457G>T p.A153S missense 0.00000825
93. 26393959 c.27G>C p.Q9H missense 0.00000825
94. 26392792 c.299A>G p.N100S missense 0.00000825
95. 26386770 c.584G>T p.R195L missense 0.00000825
96. 26392822 c.269A>T p.Y90F missense 0.00000825
97. 26392798 c.293T>A p.V98E missense 0.00000825
98. 26384891 c.821C>T p.T274I missense 0.00000825
99. 26385050 c.662A>T p.D221V missense 0.00000825
100. 26386807 c.547C>T p.R183C missense 0.00000824
101. 26387719 c.439G>A p.V147M missense 0.00000824
102. 26385031 c.681G>C p.L227F missense 0.00000824
103. 26384998 c.714G>C p.K238N missense 0.00000824
104. 26384922 c.790A>G p.I264V missense 0.00000824
105. 26384901 c.811G>C p.G271R missense 0.00000824
106. 26387763 c.395T>C p.I132T missense 0.00000824
107. 26383727 c.946G>C p.A316P missense 0.00000824
108. 26393954 c.32G>A p.G11E missense 0.00000824
109. 26393936 c.50T>C p.L17S missense 0.00000824
110. 26387764 c.394A>G p.I132V missense 0.00000824
111. 26380384 c.1051G>A p.G351R missense 0.00000824
112. 26386812 c.542A>T p.N181I missense 0.00000824
113. 26385000 c.712A>G p.K238E missense 0.00000824
114. 26385038 c.674G>A p.S225N missense 0.00000824
115. 26384962 c.750G>C p.Q250H missense 0.00000824
116. 26383729 c.944T>C p.I315T missense 0.00000824
117. 26387765 c.393C>A p.N131K missense 0.00000824
118. 26386815 c.539G>A p.G180E missense 0.00000824
119. 26393944 c.42G>T p.M14I missense 0.00000824
120. 26384915 c.797C>T p.S266F missense 0.00000824
121. 26387782 c.376G>A p.E126K missense 0.00000824
122. 26383730 c.943A>G p.I315V missense 0.00000824
123. 26387707 c.451C>T p.H151Y missense 0.00000824
124. 26386827 c.527T>C p.M176T missense 0.00000824
125. 26384987 c.725T>C p.I242T missense 0.00000824
126. 26387777 c.381T>A p.D127E missense 0.00000824
127. 26383721 c.952G>T p.A318S missense 0.00000824
128. 26383700 c.973G>C p.G325R missense 0.00000824
129. 26393946 c.40A>G p.M14V missense 0.00000824
130. 26383798 c.875G>A p.G292D 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.