TRIM63 variants in ExAC

TRIM63 gene summary
TRIM63 variants in

The table below lists the TRIM63 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. 26385003 c.709A>G p.K237E missense 0.19212326●●●●●●
2. 26386860 c.502-8C>T splice site 0.00668308●●●●●●
3. 26384907 c.805G>A p.E269K missense 0.00337053●●●●●●
4. 26386750 c.597+7G>A splice site 0.00227093●●●●●●
5. 26392929 c.162T>G p.A54A splice site 0.00157058●●●●●●
6. 26393843 c.143C>T p.A48V missense 0.00125778●●●●●●
7. 26384973 c.739C>T p.Q247X nonsense 0.00048596●●●●●●
8. 26385068 c.644C>T p.T215M missense 0.00033044●●●●●●
9. 26380423 c.1012G>T p.D338Y missense 0.00028924●●●●●●
10. 26392916 c.175T>C p.W59R missense 0.00022137●●●●●●
11. 26385059 c.653C>T p.A218V missense 0.00020635●●●●●●
12. 26383717 c.956T>C p.L319P missense 0.00014831●●●●●●
13. 26387820 c.338C>T p.P113L missense 0.00014138●●●●●●
14. 26387780 c.378A>T p.E126D missense 0.00014015●●●●●●
15. 26392867 c.224G>A p.C75Y missense 0.00013513●●●●●●
16. 26392777 c.314A>G p.Y105C missense 0.00011545●●●●●●
17. 26392870 c.221G>A p.R74H missense 0.00010183●●●●●●
18. 26392828 c.263G>C p.G88A missense 0.00009084●●●●●●
19. 26384149 c.832-8C>G splice site 0.00008899●●●●●●
20. 26386818 c.536C>T p.A179V missense 0.00007418●●●●●●
21. 26384148 c.832-7C>G splice site 0.00007115●●●●●●
22. 26392921 c.170C>T p.P57L missense 0.00006930●●●●●●
23. 26392856 c.235C>T p.R79C missense 0.00006691●●●●●●
24. 26385080 c.632A>G p.Q211R missense 0.00006618●●●●●●
25. 26386863 c.502-11C>G splice site 0.00006609●●●●●●
26. 26387768 c.390C>G p.I130M missense 0.00006594●●●●●●
27. 26387677 c.481_482delAG p.S161Cfs*8 frameshift 0.00005791●●●●●●
28. 26385024 c.688C>T p.R230W missense 0.00005767●●●●●●
29. 26383741 c.932A>G p.D311G missense 0.00005766●●●●●●
30. 26392871 c.220C>T p.R74C missense 0.00005091●●●●●●
31. 26387695 c.463G>A p.E155K missense 0.00004950●●●●●●
32. 26392876 c.215G>A p.R72H missense 0.00004267●●●●●●
33. 26392873 c.218T>C p.F73S missense 0.00004250●●●●●●
34. 26387824 c.334C>T p.R112W missense 0.00004176●●●●●●
35. 26385122 c.598-8G>A splice site 0.00004173●●●●●●
36. 26386835 c.519T>A p.C173X nonsense 0.00004123●●●●●●
37. 26386831 c.523T>C p.S175P missense 0.00004122●●●●●●
38. 26386806 c.548G>A p.R183H missense 0.00004121●●●●●●
39. 26383715 c.958A>G p.R320G missense 0.00004120●●●●●●
40. 26384981 c.731C>T p.A244V missense 0.00004118●●●●●●
41. 26387656 c.501+1G>T essential splice site 0.00003349●●●●●●
42. 26392814 c.277C>T p.Q93X nonsense 0.00003300●●●●●●
43. 26387724 c.434G>A p.C145Y missense 0.00003296●●●●●●
44. 26393918 c.68G>A p.C23Y missense 0.00003296●●●●●●
45. 26383789 c.884T>C p.L295P missense 0.00003296●●●●●●
46. 26387733 c.425G>A p.C142Y missense 0.00003296●●●●●●
47. 26384986 c.726C>G p.I242M missense 0.00003295●●●●●●
48. 26392907 c.184C>T p.R62W missense 0.00002784●●●●●●
49. 26392855 c.236G>A p.R79H missense 0.00002500●●●●●●
50. 26393826 c.159+1G>A essential splice site 0.00002500●●●●●●
51. 26384879 c.831+2T>G essential splice site 0.00002479●●●●●●
52. 26386751 c.597+6C>A splice site 0.00002477●●●●●●
53. 26386770 c.584G>A p.R195H missense 0.00002474●●●●●●
54. 26387788 c.370G>C p.E124Q missense 0.00002474●●●●●●
55. 26386767 c.587G>A p.R196Q missense 0.00002474●●●●●●
56. 26393945 c.41T>C p.M14T missense 0.00002473●●●●●●
57. 26387721 c.437_442delAGGTGT p.Lys146_Phe148delinsIle inframe 0.00002473●●●●●●
58. 26387722 c.436_437insCC p.Lys146ThrfsTer26 frameshift 0.00002472●●●●●●
59. 26384124 c.849C>G p.I283M missense 0.00001750●●●●●●
60. 26392883 c.208G>A p.G70R missense 0.00001725●●●●●●
61. 26387828 c.333-3C>T splice site 0.00001673●●●●●●
62. 26385121 c.598-7T>A splice site 0.00001668●●●●●●
63. 26387823 c.335G>A p.R112Q missense 0.00001667●●●●●●
64. 26383823 c.855-5T>C splice site 0.00001654●●●●●●
65. 26392843 c.248_253delTCATGG p.Ile83_Asp85delinsAsn inframe 0.00001653●●●●●●
66. 26385068 c.644C>A p.T215K missense 0.00001652●●●●●●
67. 26392835 c.256C>T p.R86C missense 0.00001652●●●●●●
68. 26393972 c.14C>T p.S5L missense 0.00001652●●●●●●
69. 26383816 c.857T>C p.I286T missense 0.00001652●●●●●●
70. 26386752 c.597+5G>A splice site 0.00001651●●●●●●
71. 26387801 c.357C>A p.H119Q missense 0.00001651●●●●●●
72. 26392811 c.280A>G p.R94G missense 0.00001650●●●●●●
73. 26392766 c.325T>A p.C109S missense 0.00001650●●●●●●
74. 26393879 c.107T>C p.I36T missense 0.00001649●●●●●●
75. 26385039 c.673A>G p.S225G missense 0.00001649●●●●●●
76. 26386828 c.526A>T p.M176L missense 0.00001649●●●●●●
77. 26386771 c.583C>T p.R195C missense 0.00001649●●●●●●
78. 26386782 c.572T>C p.L191P missense 0.00001649●●●●●●
79. 26383708 c.965T>C p.I322T missense 0.00001648●●●●●●
80. 26383780 c.893C>T p.T298I missense 0.00001648●●●●●●
81. 26384907 c.805G>C p.E269Q missense 0.00001648●●●●●●
82. 26387742 c.416T>A p.V139E missense 0.00001648●●●●●●
83. 26384985 c.727G>A p.E243K missense 0.00001647●●●●●●
84. 26385017 c.695C>T p.T232M missense 0.00001647●●●●●●
85. 26384931 c.781G>T p.E261X nonsense 0.00001647●●●●●●
86. 26385012 c.700G>A p.E234K missense 0.00001647●●●●●●
87. 26384975 c.737T>A p.I246N missense 0.00001647●●●●●●
88. 26392938 c.160-7C>A splice site 0.00001120●●●●●●
89. 26392927 c.164C>T p.A55V missense 0.00001035●●●●●●
90. 26392913 c.178A>C p.T60P missense 0.00000951●●●●●●
91. 26378369 c.1057C>T p.Q353X nonsense 0.00000942●●●●●●
92. 26392904 c.187G>A p.G63S missense 0.00000920●●●●●●
93. 26384129 c.844C>T p.L282F missense 0.00000876●●●●●●
94. 26384129 c.844C>A p.L282I missense 0.00000876●●●●●●
95. 26384118 c.854+1G>A essential splice site 0.00000874●●●●●●
96. 26392877 c.214C>T p.R72C missense 0.00000854●●●●●●
97. 26387651 c.501+6G>T splice site 0.00000839●●●●●●
98. 26387654 c.501+3A>G splice site 0.00000838●●●●●●
99. 26387654 c.501+3A>C splice site 0.00000838●●●●●●
100. 26380456 c.980-1G>A essential splice site 0.00000837●●●●●●
101. 26387826 c.333-1G>C essential splice site 0.00000835●●●●●●
102. 26387826 c.333-1G>A essential splice site 0.00000835●●●●●●
103. 26387658 c.500A>G p.K167R missense 0.00000834●●●●●●
104. 26387821 c.337C>G p.P113A missense 0.00000833●●●●●●
105. 26392848 c.243G>T p.E81D missense 0.00000831●●●●●●
106. 26387665 c.493G>A p.G165R missense 0.00000831●●●●●●
107. 26385103 c.609C>A p.H203Q missense 0.00000830●●●●●●
108. 26392843 c.248T>A p.I83N missense 0.00000828●●●●●●
109. 26393980 c.6T>A p.D2E missense 0.00000828●●●●●●
110. 26383822 c.855-4G>T splice site 0.00000827●●●●●●
111. 26393978 c.8A>T p.Y3F missense 0.00000827●●●●●●
112. 26387808 c.350G>T p.G117V missense 0.00000827●●●●●●
113. 26384876 c.831+5G>A splice site 0.00000827●●●●●●
114. 26380424 c.1011_1013delAGA p.Glu337del inframe 0.00000826●●●●●●
115. 26393853 c.133C>T p.R45W missense 0.00000826●●●●●●
116. 26392829 c.262G>C p.G88R missense 0.00000826●●●●●●
117. 26380416 c.1019A>G p.E340G missense 0.00000826●●●●●●
118. 26384878 c.831+3G>T splice site 0.00000826●●●●●●
119. 26385065 c.647_649delTGT p.Leu216del inframe 0.00000826●●●●●●
120. 26385062 c.650A>G p.Y217C missense 0.00000826●●●●●●
121. 26392830 c.261C>G p.H87Q missense 0.00000826●●●●●●
122. 26392751 c.332+8C>T splice site 0.00000826●●●●●●
123. 26386768 c.586C>T p.R196X nonsense 0.00000825●●●●●●
124. 26392755 c.332+4G>A splice site 0.00000825●●●●●●
125. 26392798 c.293T>A p.V98E missense 0.00000825●●●●●●
126. 26384891 c.821C>T p.T274I missense 0.00000825●●●●●●
127. 26392822 c.269A>T p.Y90F missense 0.00000825●●●●●●
128. 26387701 c.457G>T p.A153S missense 0.00000825●●●●●●
129. 26384898 c.814G>A p.G272R missense 0.00000825●●●●●●
130. 26392810 c.281G>A p.R94K missense 0.00000825●●●●●●
131. 26392786 c.305T>A p.I102N missense 0.00000825●●●●●●
132. 26385050 c.662A>T p.D221V missense 0.00000825●●●●●●
133. 26386770 c.584G>T p.R195L missense 0.00000825●●●●●●
134. 26392792 c.299A>G p.N100S missense 0.00000825●●●●●●
135. 26387793 c.365G>T p.C122F missense 0.00000825●●●●●●
136. 26393874 c.112C>T p.P38S missense 0.00000825●●●●●●
137. 26383694 c.979G>T p.D327Y missense 0.00000825●●●●●●
138. 26383688 c.979+6G>T splice site 0.00000825●●●●●●
139. 26393959 c.27G>C p.Q9H missense 0.00000825●●●●●●
140. 26387697 c.461G>A p.C154Y missense 0.00000825●●●●●●
141. 26383700 c.973G>C p.G325R missense 0.00000824●●●●●●
142. 26384987 c.725T>C p.I242T missense 0.00000824●●●●●●
143. 26387723 c.435C>A p.C145X nonsense 0.00000824●●●●●●
144. 26383727 c.946G>C p.A316P missense 0.00000824●●●●●●
145. 26387763 c.395T>C p.I132T missense 0.00000824●●●●●●
146. 26386812 c.542A>T p.N181I missense 0.00000824●●●●●●
147. 26384922 c.790A>G p.I264V missense 0.00000824●●●●●●
148. 26393944 c.42G>T p.M14I missense 0.00000824●●●●●●
149. 26383775 c.898C>T p.Q300X nonsense 0.00000824●●●●●●
150. 26386807 c.547C>T p.R183C missense 0.00000824●●●●●●
151. 26393946 c.40A>G p.M14V missense 0.00000824●●●●●●
152. 26385027 c.685C>T p.Q229X nonsense 0.00000824●●●●●●
153. 26384998 c.714G>C p.K238N missense 0.00000824●●●●●●
154. 26384901 c.811G>C p.G271R missense 0.00000824●●●●●●
155. 26387764 c.394A>G p.I132V missense 0.00000824●●●●●●
156. 26383729 c.944T>C p.I315T missense 0.00000824●●●●●●
157. 26386815 c.539G>A p.G180E missense 0.00000824●●●●●●
158. 26380384 c.1051G>A p.G351R missense 0.00000824●●●●●●
159. 26386827 c.527T>C p.M176T missense 0.00000824●●●●●●
160. 26387707 c.451C>T p.H151Y missense 0.00000824●●●●●●
161. 26393954 c.32G>A p.G11E missense 0.00000824●●●●●●
162. 26385000 c.712A>G p.K238E missense 0.00000824●●●●●●
163. 26385031 c.681G>C p.L227F missense 0.00000824●●●●●●
164. 26384962 c.750G>C p.Q250H missense 0.00000824●●●●●●
165. 26387765 c.393C>A p.N131K missense 0.00000824●●●●●●
166. 26383730 c.943A>G p.I315V missense 0.00000824●●●●●●
167. 26387782 c.376G>A p.E126K missense 0.00000824●●●●●●
168. 26393936 c.50T>C p.L17S missense 0.00000824●●●●●●
169. 26383798 c.875G>A p.G292D missense 0.00000824●●●●●●
170. 26380378 c.1051+6A>T splice site 0.00000824●●●●●●
171. 26387719 c.439G>A p.V147M missense 0.00000824●●●●●●
172. 26383721 c.952G>T p.A318S missense 0.00000824●●●●●●
173. 26385038 c.674G>A p.S225N missense 0.00000824●●●●●●
174. 26384915 c.797C>T p.S266F missense 0.00000824●●●●●●
175. 26387777 c.381T>A p.D127E 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.