TRIM55 variants in ExAC

TRIM55 gene summary
TRIM55 variants in

The table below lists the TRIM55 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. 67064654 c.1028A>G p.K343R missense 0.14103252●●●●●●
2. 67064613 c.987A>G p.E329E splice site 0.02313112●●●●●●
3. 67066396 c.1351C>T p.R451W missense 0.00191994●●●●●●
4. 67047301 c.418G>A p.E140K missense 0.00180381●●●●●●
5. 67062485 c.860+11T>G splice site 0.00161608●●●●●●
6. 67047241 c.358G>T p.D120Y missense 0.00065108●●●●●●
7. 67066435 c.1390G>A p.E464K missense 0.00050261●●●●●●
8. 67066394 c.1349C>T p.T450I missense 0.00046968●●●●●●
9. 67047224 c.342-1G>A essential splice site 0.00040444●●●●●●
10. 67061980 c.704G>A p.R235Q missense 0.00040366●●●●●●
11. 67086762 c.1581T>G p.S527R missense 0.00026585●●●●●●
12. 67066511 c.1466C>T p.A489V missense 0.00026424●●●●●●
13. 67061983 c.707C>T p.T236I missense 0.00025538●●●●●●
14. 67047352 c.469C>A p.Q157K missense 0.00024710●●●●●●
15. 67066367 c.1322T>G p.F441C missense 0.00019783●●●●●●
16. 67064719 c.1093G>A p.E365K missense 0.00019018●●●●●●
17. 67040600 c.230G>A p.R77H missense 0.00016485●●●●●●
18. 67040549 c.179C>T p.P60L missense 0.00014272●●●●●●
19. 67062681 c.965G>A p.R322H missense 0.00014008●●●●●●
20. 67047274 c.391C>T p.R131C missense 0.00014003●●●●●●
21. 67064800 c.1174C>A p.P392T missense 0.00013234●●●●●●
22. 67066544 c.1499C>T p.T500I missense 0.00011568●●●●●●
23. 67062012 c.736G>T p.A246S missense 0.00010709●●●●●●
24. 67061923 c.647A>G p.D216G missense 0.00009915●●●●●●
25. 67064738 c.1112delA p.Asn372ThrfsTer39 frameshift 0.00009090●●●●●●
26. 67064788 c.1162C>G p.P388A missense 0.00007439●●●●●●
27. 67086718 c.1537G>T p.A513S missense 0.00007415●●●●●●
28. 67062015 c.739C>G p.L247V missense 0.00007414●●●●●●
29. 67047354 c.471G>C p.Q157H missense 0.00007413●●●●●●
30. 67064632 c.1006G>C p.E336Q missense 0.00006922●●●●●●
31. 67062628 c.912T>G p.Y304X nonsense 0.00006591●●●●●●
32. 67064686 c.1060G>A p.V354I missense 0.00005927●●●●●●
33. 67064747 c.1121delA p.A376Lfs*35 frameshift 0.00005784●●●●●●
34. 67066516 c.1471G>A p.E491K missense 0.00005778●●●●●●
35. 67086721 c.1540C>T p.P514S missense 0.00005767●●●●●●
36. 67040626 c.256G>A p.V86I missense 0.00005767●●●●●●
37. 67062624 c.908G>C p.G303A missense 0.00005767●●●●●●
38. 67047376 c.493T>C p.F165L missense 0.00005766●●●●●●
39. 67064641 c.1015G>A p.G339R missense 0.00005607●●●●●●
40. 67062082 c.806T>G p.M269R missense 0.00004945●●●●●●
41. 67086731 c.1550A>G p.Q517R missense 0.00004944●●●●●●
42. 67062635 c.919A>G p.M307V missense 0.00004943●●●●●●
43. 67062692 c.976T>G p.F326V missense 0.00004121●●●●●●
44. 67062593 c.877A>G p.K293E missense 0.00004120●●●●●●
45. 67086719 c.1538C>T p.A513V missense 0.00004120●●●●●●
46. 67064644 c.1018G>A p.E340K missense 0.00003837●●●●●●
47. 67064611 c.986-1_990delGAAGAT essential splice site 0.00003419●●●●●●
48. 67064869 c.1236+7C>A splice site 0.00003362●●●●●●
49. 67039674 c.168+3A>G splice site 0.00003301●●●●●●
50. 67086793 c.1612T>G p.F538V missense 0.00003298●●●●●●
51. 67066355 c.1310C>T p.A437V missense 0.00003298●●●●●●
52. 67062637 c.921G>A p.M307I missense 0.00003296●●●●●●
53. 67047290 c.407G>C p.C136S missense 0.00003295●●●●●●
54. 67039576 c.73A>G p.I25V missense 0.00003295●●●●●●
55. 67062624 c.908G>A p.G303D missense 0.00003295●●●●●●
56. 67064678 c.1052G>T p.G351V missense 0.00002611●●●●●●
57. 67064869 c.1236+7C>T splice site 0.00002522●●●●●●
58. 67064825 c.1199C>T p.P400L missense 0.00002486●●●●●●
59. 67064718 c.1092_1093delAG p.Glu365ValfsTer6 frameshift 0.00002481●●●●●●
60. 67064752 c.1126G>T p.A376S missense 0.00002479●●●●●●
61. 67049376 c.554G>A p.R185Q missense 0.00002479●●●●●●
62. 67040585 c.215C>A p.S72X nonsense 0.00002476●●●●●●
63. 67066518 c.1473G>T p.E491D missense 0.00002476●●●●●●
64. 67062582 c.866C>T p.S289L missense 0.00002474●●●●●●
65. 67062087 c.811G>A p.E271K missense 0.00002473●●●●●●
66. 67062596 c.880G>A p.A294T missense 0.00002472●●●●●●
67. 67086752 c.1571C>T p.A524V missense 0.00002472●●●●●●
68. 67062636 c.920T>G p.M307R missense 0.00002472●●●●●●
69. 67062606 c.890delT p.M297Rfs*4 frameshift 0.00002472●●●●●●
70. 67066401 c.1356A>T p.K452N missense 0.00002472●●●●●●
71. 67086717 c.1536G>C p.E512D missense 0.00002472●●●●●●
72. 67039604 c.101C>T p.T34M missense 0.00002471●●●●●●
73. 67047371 c.488A>G p.H163R missense 0.00002471●●●●●●
74. 67062009 c.733C>T p.R245C missense 0.00002471●●●●●●
75. 67064666 c.1040G>A p.G347E missense 0.00001861●●●●●●
76. 67061872 c.604-8A>G splice site 0.00001740●●●●●●
77. 67061873 c.604-7C>T splice site 0.00001735●●●●●●
78. 67061875 c.604-5A>G splice site 0.00001725●●●●●●
79. 67049433 c.603+8A>G splice site 0.00001717●●●●●●
80. 67064851 c.1225C>T p.P409S missense 0.00001668●●●●●●
81. 67061906 c.630G>C p.E210D missense 0.00001660●●●●●●
82. 67066561 c.1516A>G p.T506A missense 0.00001660●●●●●●
83. 67049346 c.524G>C p.G175A missense 0.00001657●●●●●●
84. 67066306 c.1261G>A p.E421K missense 0.00001654●●●●●●
85. 67064798 c.1172T>A p.L391H missense 0.00001654●●●●●●
86. 67066307 c.1262A>G p.E421G missense 0.00001654●●●●●●
87. 67049360 c.538G>A p.V180M missense 0.00001653●●●●●●
88. 67049363 c.541G>T p.G181C missense 0.00001652●●●●●●
89. 67066507 c.1462G>A p.A488T missense 0.00001652●●●●●●
90. 67040582 c.212C>G p.A71G missense 0.00001652●●●●●●
91. 67049371 c.549C>A p.N183K missense 0.00001652●●●●●●
92. 67066331 c.1286C>T p.P429L missense 0.00001651●●●●●●
93. 67066508 c.1463C>T p.A488V missense 0.00001651●●●●●●
94. 67039675 c.168+4G>C splice site 0.00001651●●●●●●
95. 67062576 c.861-1G>A essential splice site 0.00001649●●●●●●
96. 67040594 c.224G>A p.R75Q missense 0.00001649●●●●●●
97. 67061950 c.674G>A p.R225K missense 0.00001649●●●●●●
98. 67086790 c.1609A>G p.I537V missense 0.00001649●●●●●●
99. 67086749 c.1568C>T p.P523L missense 0.00001648●●●●●●
100. 67040716 c.341+5_341+12delCACTCTTC splice site 0.00001648●●●●●●
101. 67062603 c.887A>T p.Q296L missense 0.00001648●●●●●●
102. 67066471 c.1426G>A p.D476N missense 0.00001648●●●●●●
103. 67062599 c.883delT p.Gln296ArgfsTer5 frameshift 0.00001648●●●●●●
104. 67086739 c.1558G>T p.A520S missense 0.00001648●●●●●●
105. 67047251 c.368T>C p.M123T missense 0.00001648●●●●●●
106. 67040714 c.341+3A>C splice site 0.00001648●●●●●●
107. 67040608 c.238T>C p.S80P missense 0.00001648●●●●●●
108. 67062689 c.973G>A p.D325N missense 0.00001648●●●●●●
109. 67062006 c.730G>A p.V244I missense 0.00001647●●●●●●
110. 67047343 c.460A>G p.K154E missense 0.00001647●●●●●●
111. 67064639 c.1013G>A p.G338D missense 0.00001506●●●●●●
112. 67064658 c.1032_1034delAGG p.Gly345del inframe 0.00001003●●●●●●
113. 67040534 c.169-5A>G splice site 0.00000857●●●●●●
114. 67049429 c.603+4A>G splice site 0.00000854●●●●●●
115. 67061880 c.604G>C p.E202Q missense 0.00000853●●●●●●
116. 67066495 c.1450G>C p.V484L missense 0.00000852●●●●●●
117. 67040539 c.169G>A p.A57T missense 0.00000851●●●●●●
118. 67066274 c.1237-8T>C splice site 0.00000842●●●●●●
119. 67049324 c.508-6C>A splice site 0.00000841●●●●●●
120. 67049417 c.595A>T p.T199S missense 0.00000839●●●●●●
121. 67066281 c.1237-1G>C essential splice site 0.00000835●●●●●●
122. 67049411 c.589T>A p.C197S missense 0.00000835●●●●●●
123. 67066282 c.1237G>A p.G413R missense 0.00000834●●●●●●
124. 67049409 c.587delC p.Cys197AlafsTer33 frameshift 0.00000833●●●●●●
125. 67040557 c.187C>A p.P63T missense 0.00000833●●●●●●
126. 67061899 c.623A>G p.K208R missense 0.00000833●●●●●●
127. 67049334 c.512A>G p.E171G missense 0.00000833●●●●●●
128. 67064843 c.1217C>T p.A406V missense 0.00000832●●●●●●
129. 67061901 c.625C>A p.Q209K missense 0.00000832●●●●●●
130. 67040561 c.191C>T p.T64I missense 0.00000831●●●●●●
131. 67064840 c.1214C>T p.A405V missense 0.00000831●●●●●●
132. 67049402 c.580G>A p.E194K missense 0.00000831●●●●●●
133. 67062462 c.848C>G p.T283S missense 0.00000830●●●●●●
134. 67049400 c.578T>A p.L193Q missense 0.00000830●●●●●●
135. 67040563 c.193A>G p.R65G missense 0.00000830●●●●●●
136. 67064831 c.1205T>A p.L402Q missense 0.00000830●●●●●●
137. 67064836 c.1210C>T p.P404S missense 0.00000830●●●●●●
138. 67066561 c.1516A>T p.T506S missense 0.00000830●●●●●●
139. 67064828 c.1202delC p.Leu402CysfsTer9 frameshift 0.00000829●●●●●●
140. 67064822 c.1196C>T p.P399L missense 0.00000829●●●●●●
141. 67062474 c.860A>T p.K287I missense 0.00000829●●●●●●
142. 67061910 c.634T>C p.C212R missense 0.00000829●●●●●●
143. 67066300 c.1255G>C p.G419R missense 0.00000828●●●●●●
144. 67064810 c.1184C>T p.S395F missense 0.00000828●●●●●●
145. 67049351 c.529G>A p.A177T missense 0.00000828●●●●●●
146. 67064710 c.1084G>A p.V362I missense 0.00000828●●●●●●
147. 67064819 c.1193C>A p.P398Q missense 0.00000828●●●●●●
148. 67064809 c.1183T>C p.S395P missense 0.00000828●●●●●●
149. 67049354 c.532A>G p.I178V missense 0.00000827●●●●●●
150. 67049355 c.533T>C p.I178T missense 0.00000827●●●●●●
151. 67064722 c.1096T>C p.F366L missense 0.00000827●●●●●●
152. 67064801 c.1175C>T p.P392L missense 0.00000827●●●●●●
153. 67066548 c.1503T>G p.S501R missense 0.00000827●●●●●●
154. 67062116 c.837+3A>G splice site 0.00000827●●●●●●
155. 67040575 c.205A>G p.T69A missense 0.00000827●●●●●●
156. 67066534 c.1489G>T p.G497C missense 0.00000826●●●●●●
157. 67064743 c.1117C>A p.P373T missense 0.00000826●●●●●●
158. 67066511 c.1466C>G p.A489G missense 0.00000826●●●●●●
159. 67039678 c.168+7T>A splice site 0.00000826●●●●●●
160. 67066535 c.1490G>A p.G497D missense 0.00000826●●●●●●
161. 67064764 c.1138T>C p.S380P missense 0.00000826●●●●●●
162. 67064782 c.1156G>C p.A386P missense 0.00000826●●●●●●
163. 67066523 c.1478C>A p.A493E missense 0.00000826●●●●●●
164. 67066327 c.1282A>G p.T428A missense 0.00000826●●●●●●
165. 67061929 c.653T>C p.L218P missense 0.00000826●●●●●●
166. 67064735 c.1109A>G p.D370G missense 0.00000826●●●●●●
167. 67066507 c.1462G>T p.A488S missense 0.00000826●●●●●●
168. 67039676 c.168+5G>T splice site 0.00000825●●●●●●
169. 67086811 c.1630A>C p.N544H missense 0.00000825●●●●●●
170. 67061932 c.656A>G p.Y219C missense 0.00000825●●●●●●
171. 67039669 c.166C>T p.Q56X nonsense 0.00000825●●●●●●
172. 67040593 c.223C>T p.R75X nonsense 0.00000825●●●●●●
173. 67086803 c.1622delC p.Trp542GlyfsTer2 frameshift 0.00000825●●●●●●
174. 67039670 c.167A>G p.Q56R missense 0.00000825●●●●●●
175. 67062577 c.861A>C p.K287N missense 0.00000825●●●●●●
176. 67066337 c.1292C>T p.P431L missense 0.00000825●●●●●●
177. 67061938 c.662delT p.Leu222TrpfsTer8 frameshift 0.00000825●●●●●●
178. 67062578 c.862A>G p.I288V missense 0.00000825●●●●●●
179. 67066432 c.1387A>G p.S463G missense 0.00000824●●●●●●
180. 67066388 c.1343G>T p.G448V missense 0.00000824●●●●●●
181. 67040707 c.337A>G p.T113A missense 0.00000824●●●●●●
182. 67040658 c.288G>T p.Q96H missense 0.00000824●●●●●●
183. 67047392 c.507+2T>C essential splice site 0.00000824●●●●●●
184. 67061990 c.714delG p.Glu239ArgfsTer9 frameshift 0.00000824●●●●●●
185. 67039597 c.94A>T p.M32L missense 0.00000824●●●●●●
186. 67039645 c.142A>G p.R48G missense 0.00000824●●●●●●
187. 67047356 c.473T>C p.V158A missense 0.00000824●●●●●●
188. 67066475 c.1430C>G p.S477W missense 0.00000824●●●●●●
189. 67062597 c.881C>T p.A294V missense 0.00000824●●●●●●
190. 67047254 c.371G>A p.C124Y missense 0.00000824●●●●●●
191. 67062033 c.757G>A p.D253N missense 0.00000824●●●●●●
192. 67040623 c.253G>C p.V85L missense 0.00000824●●●●●●
193. 67047371 c.488_489delAT p.H163Rfs*30 frameshift 0.00000824●●●●●●
194. 67066364 c.1319T>G p.L440W missense 0.00000824●●●●●●
195. 67062070 c.794G>A p.G265E missense 0.00000824●●●●●●
196. 67061980 c.704G>T p.R235L missense 0.00000824●●●●●●
197. 67086724 c.1543C>T p.P515S missense 0.00000824●●●●●●
198. 67039563 c.60A>C p.L20F missense 0.00000824●●●●●●
199. 67047342 c.459C>G p.H153Q missense 0.00000824●●●●●●
200. 67062692 c.976T>C p.F326L missense 0.00000824●●●●●●
201. 67062643 c.927C>A p.H309Q missense 0.00000824●●●●●●
202. 67047348 c.465C>G p.D155E missense 0.00000824●●●●●●
203. 67066438 c.1393G>A p.G465S missense 0.00000824●●●●●●
204. 67066417 c.1372C>G p.P458A missense 0.00000824●●●●●●
205. 67047241 c.358G>A p.D120N missense 0.00000824●●●●●●
206. 67062012 c.736G>A p.A246T missense 0.00000824●●●●●●
207. 67066417 c.1372C>A p.P458T missense 0.00000824●●●●●●
208. 67062665 c.949G>A p.E317K missense 0.00000824●●●●●●
209. 67039646 c.143G>A p.R48K missense 0.00000824●●●●●●
210. 67086781 c.1600G>C p.A534P missense 0.00000824●●●●●●
211. 67086712 c.1531T>C p.F511L missense 0.00000824●●●●●●
212. 67040605 c.235C>G p.P79A missense 0.00000824●●●●●●
213. 67066483 c.1438C>T p.R480W missense 0.00000824●●●●●●
214. 67047296 c.413A>G p.N138S missense 0.00000824●●●●●●
215. 67047256 c.373G>A p.E125K missense 0.00000824●●●●●●
216. 67062680 c.964C>T p.R322C missense 0.00000824●●●●●●
217. 67066369 c.1324T>C p.Y442H missense 0.00000824●●●●●●
218. 67040664 c.294C>A p.N98K missense 0.00000824●●●●●●
219. 67062051 c.775T>A p.S259T missense 0.00000824●●●●●●
220. 67061943 c.667G>A p.E223K missense 0.00000824●●●●●●
221. 67062022 c.746A>G p.K249R missense 0.00000824●●●●●●
222. 67039530 c.27delT p.Ser11ProfsTer10 frameshift 0.00000824●●●●●●
223. 67061989 c.713A>C p.E238A missense 0.00000824●●●●●●
224. 67086734 c.1553G>A p.G518E missense 0.00000824●●●●●●
225. 67039573 c.70C>T p.L24F missense 0.00000824●●●●●●
226. 67062678 c.962T>C p.I321T missense 0.00000824●●●●●●
227. 67086734 c.1553G>C p.G518A missense 0.00000824●●●●●●
228. 67066427 c.1382C>T p.P461L missense 0.00000824●●●●●●
229. 67047242 c.359A>T p.D120V missense 0.00000824●●●●●●
230. 67061946 c.670G>T p.Glu224Ter nonsense 0.00000824●●●●●●
231. 67061988 c.712G>C p.E238Q missense 0.00000824●●●●●●
232. 67062587 c.871G>A p.A291T missense 0.00000824●●●●●●
233. 67086785 c.1604G>A p.R535H missense 0.00000824●●●●●●
234. 67086757 c.1576G>A p.G526S missense 0.00000824●●●●●●
235. 67039655 c.152C>T p.A51V missense 0.00000824●●●●●●
236. 67039609 c.106C>T p.P36S missense 0.00000824●●●●●●
237. 67039552 c.49A>G p.M17V missense 0.00000824●●●●●●
238. 67047287 c.404A>G p.Y135C missense 0.00000824●●●●●●
239. 67066484 c.1439G>A p.R480Q missense 0.00000824●●●●●●
240. 67047331 c.448T>A p.F150I missense 0.00000824●●●●●●
241. 67066376 c.1331G>A p.S444N missense 0.00000824●●●●●●
242. 67062082 c.806T>C p.M269T missense 0.00000824●●●●●●
243. 67040690 c.320T>A p.I107N missense 0.00000824●●●●●●
244. 67040638 c.268C>A p.H90N missense 0.00000824●●●●●●
245. 67062003 c.727C>T p.H243Y missense 0.00000824●●●●●●
246. 67047285 c.402delC p.Tyr135ThrfsTer3 frameshift 0.00000824●●●●●●
247. 67039576 c.73A>C p.I25L missense 0.00000824●●●●●●
248. 67086700 c.1525-6T>C splice site 0.00000824●●●●●●
249. 67062641 c.925C>T p.H309Y missense 0.00000824●●●●●●
250. 67062010 c.734G>A p.R245H missense 0.00000824●●●●●●
251. 67066475 c.1430C>T p.S477L missense 0.00000824●●●●●●
252. 67062596 c.880G>T p.A294S missense 0.00000824●●●●●●
253. 67066402 c.1357G>T p.A453S missense 0.00000824●●●●●●
254. 67062054 c.778A>G p.K260E missense 0.00000824●●●●●●
255. 67062028 c.752A>G p.Y251C missense 0.00000824●●●●●●
256. 67039661 c.158A>G p.D53G missense 0.00000824●●●●●●
257. 67039556 c.53A>G p.D18G missense 0.00000824●●●●●●
258. 67066486 c.1441A>C p.K481Q missense 0.00000824●●●●●●
259. 67047341 c.458A>G p.H153R 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.