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