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

* 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.