TRIM54 variants in ExAC

TRIM54 gene summary
TRIM54 variants in

The table below lists the TRIM54 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. 27528692 c.969+7T>C splice site 0.41236150●●●●●●
2. 27528504 c.788G>A p.C263Y missense 0.00084873●●●●●●
3. 27529154 c.1066G>A p.V356I missense 0.00072789●●●●●●
4. 27528543 c.827C>T p.A276V missense 0.00068114●●●●●●
5. 27522155 c.384G>T p.E128D missense 0.00061028●●●●●●
6. 27527897 c.710T>G p.M237R missense 0.00043989●●●●●●
7. 27528599 c.883_884insA p.Tyr295Ter frameshift 0.00040657●●●●●●
8. 27528980 c.992+10C>T splice site 0.00035814●●●●●●
9. 27522284 c.513delG p.A172Pfs*64 frameshift 0.00030726●●●●●●
10. 27505633 c.34G>A p.G12R missense 0.00028912●●●●●●
11. 27521582 c.316G>A p.D106N missense 0.00028458●●●●●●
12. 27529154 c.1066G>C p.V356L missense 0.00027296●●●●●●
13. 27522229 c.458G>A p.G153D missense 0.00024101●●●●●●
14. 27527875 c.688G>T p.V230L missense 0.00023883●●●●●●
15. 27529103 c.1015G>A p.E339K missense 0.00020674●●●●●●
16. 27529106 c.1018C>G p.L340V missense 0.00019849●●●●●●
17. 27529367 c.1161G>C p.E387D missense 0.00015408●●●●●●
18. 27529381 c.1175C>T p.P392L missense 0.00015022●●●●●●
19. 27522109 c.342-4C>T splice site 0.00014890●●●●●●
20. 27529324 c.1118G>T p.G373V missense 0.00014582●●●●●●
21. 27528446 c.736-6T>G splice site 0.00011120●●●●●●
22. 27527922 c.735G>A splice site 0.00010999●●●●●●
23. 27522165 c.394G>T p.E132X nonsense 0.00008248●●●●●●
24. 27528593 c.877C>A p.R293S missense 0.00006903●●●●●●
25. 27527875 c.688G>A p.V230M missense 0.00006824●●●●●●
26. 27521463 c.197G>T p.G66V missense 0.00006604●●●●●●
27. 27522165 c.394_396delGAG p.Glu132del inframe 0.00006598●●●●●●
28. 27527839 c.652G>A p.D218N missense 0.00006102●●●●●●
29. 27528605 c.889G>A p.D297N missense 0.00006032●●●●●●
30. 27505773 c.168+6T>C splice site 0.00005964●●●●●●
31. 27529206 c.1117+1G>C essential splice site 0.00005811●●●●●●
32. 27529326 c.1120G>A p.A374T missense 0.00005621●●●●●●
33. 27529396 c.1190C>T p.P397L missense 0.00005191●●●●●●
34. 27529113 c.1025G>A p.G342E missense 0.00004961●●●●●●
35. 27529335 c.1129G>A p.E377K missense 0.00004150●●●●●●
36. 27529119 c.1031C>T p.P344L missense 0.00004135●●●●●●
37. 27522120 c.349C>T p.H117Y missense 0.00004130●●●●●●
38. 27521490 c.224G>A p.R75H missense 0.00004124●●●●●●
39. 27528600 c.884A>G p.Y295C missense 0.00003973●●●●●●
40. 27528578 c.862G>A p.V288I missense 0.00003866●●●●●●
41. 27528461 c.745C>T p.R249W missense 0.00003759●●●●●●
42. 27522267 c.496A>G p.I166V missense 0.00003464●●●●●●
43. 27527872 c.685C>T p.R229C missense 0.00003408●●●●●●
44. 27527873 c.686G>A p.R229H missense 0.00003407●●●●●●
45. 27521572 c.306G>T p.E102D missense 0.00003334●●●●●●
46. 27528976 c.992+6T>C splice site 0.00003333●●●●●●
47. 27522150 c.379G>A p.E127K missense 0.00003299●●●●●●
48. 27528596 c.880C>T p.Q294X nonsense 0.00002967●●●●●●
49. 27528551 c.835C>T p.R279W missense 0.00002790●●●●●●
50. 27529359 c.1153G>T p.G385X nonsense 0.00002590●●●●●●
51. 27505741 c.142C>T p.R48C missense 0.00002502●●●●●●
52. 27522228 c.457G>A p.G153S missense 0.00002492●●●●●●
53. 27521560 c.294C>A p.N98K missense 0.00002486●●●●●●
54. 27529185 c.1097G>C p.R366P missense 0.00002484●●●●●●
55. 27529095 c.1007C>T p.S336L missense 0.00002481●●●●●●
56. 27529116 c.1028G>A p.R343Q missense 0.00002481●●●●●●
57. 27529154 c.1066G>T p.V356L missense 0.00002481●●●●●●
58. 27529091 c.1003A>G p.M335V missense 0.00002481●●●●●●
59. 27528661 c.945G>T p.E315D missense 0.00002474●●●●●●
60. 27529333 c.1127G>A p.G376E missense 0.00002012●●●●●●
61. 27529332 c.1126G>A p.G376R missense 0.00001976●●●●●●
62. 27528588 c.872T>C p.L291P missense 0.00001957●●●●●●
63. 27529325 c.1119C>A splice site 0.00001847●●●●●●
64. 27529325 c.1119C>T splice site 0.00001847●●●●●●
65. 27528543 c.827C>A p.A276E missense 0.00001841●●●●●●
66. 27527825 c.640-2A>G essential splice site 0.00001806●●●●●●
67. 27528521 c.805C>G p.R269G missense 0.00001795●●●●●●
68. 27522277 c.506G>A p.R169H missense 0.00001779●●●●●●
69. 27522276 c.505C>T p.R169C missense 0.00001772●●●●●●
70. 27522264 c.493A>G p.T165A missense 0.00001721●●●●●●
71. 27527848 c.661G>A p.A221T missense 0.00001721●●●●●●
72. 27522265 c.494_495insCT p.Ile166SerfsTer40 frameshift 0.00001721●●●●●●
73. 27505767 c.168G>T p.Q56H missense 0.00001696●●●●●●
74. 27521576 c.310A>G p.I104V missense 0.00001670●●●●●●
75. 27521432 c.169-3C>T splice site 0.00001668●●●●●●
76. 27505740 c.141C>A p.C47X nonsense 0.00001667●●●●●●
77. 27528978 c.992+8G>A splice site 0.00001666●●●●●●
78. 27505625 c.26C>T p.P9L missense 0.00001657●●●●●●
79. 27529098 c.1010A>G p.K337R missense 0.00001654●●●●●●
80. 27529142 c.1054G>C p.E352Q missense 0.00001654●●●●●●
81. 27529115 c.1027C>T p.R343W missense 0.00001654●●●●●●
82. 27505711 c.112G>A p.V38M missense 0.00001651●●●●●●
83. 27521532 c.266G>A p.R89K missense 0.00001651●●●●●●
84. 27521462 c.196G>A p.G66S missense 0.00001651●●●●●●
85. 27521484 c.218G>C p.G73A missense 0.00001649●●●●●●
86. 27528686 c.969+1G>C essential splice site 0.00001561●●●●●●
87. 27528676 c.960_961insT p.Tyr321LeufsTer11 frameshift 0.00001390●●●●●●
88. 27528670 c.954G>A p.M318I missense 0.00001293●●●●●●
89. 27528653 c.937A>G p.M313V missense 0.00001169●●●●●●
90. 27528648 c.932A>G p.Q311R missense 0.00001151●●●●●●
91. 27528647 c.931C>G p.Q311E missense 0.00001135●●●●●●
92. 27528647 c.931C>T p.Q311X nonsense 0.00001135●●●●●●
93. 27528642 c.926C>A p.A309D missense 0.00001122●●●●●●
94. 27528632 c.916G>A p.V306M missense 0.00001065●●●●●●
95. 27528618 c.902_904delCCT p.Ser303del inframe 0.00001027●●●●●●
96. 27528614 c.898G>C p.E300Q missense 0.00001019●●●●●●
97. 27528605 c.889G>C p.D297H missense 0.00001005●●●●●●
98. 27528594 c.878G>A p.R293H missense 0.00000987●●●●●●
99. 27528584 c.868G>A p.G290S missense 0.00000974●●●●●●
100. 27528582 c.866G>A p.R289H missense 0.00000971●●●●●●
101. 27528581 c.865C>T p.R289C missense 0.00000970●●●●●●
102. 27528575 c.859C>T p.R287C missense 0.00000964●●●●●●
103. 27528572 c.856C>T p.Q286X nonsense 0.00000957●●●●●●
104. 27528460 c.744C>G p.S248R missense 0.00000944●●●●●●
105. 27528560 c.844G>C p.E282Q missense 0.00000936●●●●●●
106. 27528560 c.844_846delGAG p.Glu282del inframe 0.00000934●●●●●●
107. 27528462 c.746G>A p.R249Q missense 0.00000933●●●●●●
108. 27528552 c.836G>A p.R279Q missense 0.00000932●●●●●●
109. 27527917 c.730A>G p.I244V missense 0.00000899●●●●●●
110. 27528524 c.808A>G p.K270E missense 0.00000898●●●●●●
111. 27528483 c.767_768insC p.Gln257ProfsTer4 frameshift 0.00000897●●●●●●
112. 27528490 c.774G>T p.R258S missense 0.00000895●●●●●●
113. 27528515 c.799G>A p.E267K missense 0.00000894●●●●●●
114. 27528506 c.790G>A p.A264T missense 0.00000893●●●●●●
115. 27528513 c.797T>A p.L266Q missense 0.00000893●●●●●●
116. 27528512 c.796C>G p.L266V missense 0.00000893●●●●●●
117. 27522270 c.499T>C p.Y167H missense 0.00000872●●●●●●
118. 27522265 c.494C>A p.T165N missense 0.00000861●●●●●●
119. 27527849 c.662C>T p.A221V missense 0.00000859●●●●●●
120. 27521608 c.341+1G>T essential splice site 0.00000857●●●●●●
121. 27527873 c.686G>T p.R229L missense 0.00000852●●●●●●
122. 27505771 c.168+4G>A splice site 0.00000851●●●●●●
123. 27522252 c.481G>A p.A161T missense 0.00000846●●●●●●
124. 27522250 c.479T>G p.V160G missense 0.00000843●●●●●●
125. 27505756 c.157G>A p.D53N missense 0.00000841●●●●●●
126. 27528940 c.970-8C>T splice site 0.00000841●●●●●●
127. 27521586 c.320T>C p.I107T missense 0.00000839●●●●●●
128. 27505609 c.10A>G p.T4A missense 0.00000839●●●●●●
129. 27521584 c.318_319insA p.Ile107AsnfsTer15 frameshift 0.00000839●●●●●●
130. 27521585 c.319A>C p.I107L missense 0.00000839●●●●●●
131. 27522247 c.476delA p.Glu159GlyfsTer46 frameshift 0.00000838●●●●●●
132. 27521579 c.313A>G p.I105V missense 0.00000836●●●●●●
133. 27505613 c.14T>G p.V5G missense 0.00000836●●●●●●
134. 27521430 c.169-5T>C splice site 0.00000835●●●●●●
135. 27528967 c.989A>G p.N330S missense 0.00000834●●●●●●
136. 27528975 c.992+5G>A splice site 0.00000833●●●●●●
137. 27528975 c.992+5G>T splice site 0.00000833●●●●●●
138. 27505734 c.135C>G p.N45K missense 0.00000831●●●●●●
139. 27505736 c.137T>C p.L46P missense 0.00000831●●●●●●
140. 27521439 c.173C>T p.S58L missense 0.00000830●●●●●●
141. 27529192 c.1104C>G p.I368M missense 0.00000829●●●●●●
142. 27521558 c.292A>G p.N98D missense 0.00000828●●●●●●
143. 27529182 c.1094T>C p.L365P missense 0.00000828●●●●●●
144. 27522217 c.446G>T p.C149F missense 0.00000828●●●●●●
145. 27529184 c.1096C>T p.R366W missense 0.00000828●●●●●●
146. 27522217 c.446G>C p.C149S missense 0.00000828●●●●●●
147. 27521556 c.290G>A p.R97Q missense 0.00000828●●●●●●
148. 27529185 c.1097G>A p.R366Q missense 0.00000828●●●●●●
149. 27529142 c.1054G>A p.E352K missense 0.00000827●●●●●●
150. 27529164 c.1076A>G p.E359G missense 0.00000827●●●●●●
151. 27529077 c.993-4G>T splice site 0.00000827●●●●●●
152. 27529093 c.1005G>T p.M335I missense 0.00000827●●●●●●
153. 27529128 c.1040G>C p.G347A missense 0.00000827●●●●●●
154. 27529085 c.997G>T p.G333W missense 0.00000827●●●●●●
155. 27529151 c.1063A>G p.T355A missense 0.00000827●●●●●●
156. 27529121 c.1033G>C p.E345Q missense 0.00000827●●●●●●
157. 27522113 c.342G>A splice site 0.00000827●●●●●●
158. 27529128 c.1040G>A p.G347D missense 0.00000827●●●●●●
159. 27529086 c.998G>A p.G333E missense 0.00000827●●●●●●
160. 27522108 c.342-5T>C splice site 0.00000827●●●●●●
161. 27529145 c.1057C>G p.Q353E missense 0.00000827●●●●●●
162. 27521546 c.280G>T p.G94C missense 0.00000827●●●●●●
163. 27529124 c.1036C>T p.P346S missense 0.00000827●●●●●●
164. 27521452 c.186G>T p.W62C missense 0.00000827●●●●●●
165. 27522195 c.424G>A p.E142K missense 0.00000826●●●●●●
166. 27521460 c.194G>A p.R65Q missense 0.00000826●●●●●●
167. 27521459 c.193C>T p.R65W missense 0.00000826●●●●●●
168. 27522148 c.377G>A p.C126Y missense 0.00000825●●●●●●
169. 27521513 c.247C>T p.H83Y missense 0.00000825●●●●●●
170. 27505643 c.44A>G p.H15R missense 0.00000825●●●●●●
171. 27522155 c.384G>C p.E128D missense 0.00000825●●●●●●
172. 27521489 c.223C>T p.R75C missense 0.00000825●●●●●●
173. 27505693 c.94A>T p.M32L missense 0.00000825●●●●●●
174. 27505637 c.38A>T p.D13V missense 0.00000825●●●●●●
175. 27505648 c.49A>G p.M17V missense 0.00000825●●●●●●
176. 27522177 c.406A>G p.I136V missense 0.00000825●●●●●●
177. 27521496 c.230G>A p.R77H missense 0.00000825●●●●●●
178. 27505700 c.101C>T p.S34F missense 0.00000825●●●●●●
179. 27522127 c.356A>G p.K119R missense 0.00000825●●●●●●
180. 27505649 c.50T>C p.M17T missense 0.00000825●●●●●●
181. 27505692 c.93G>T p.E31D 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.