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. 27505609 c.10A>G p.T4A missense 0.00000839●●●●●●
2. 27505613 c.14T>G p.V5G missense 0.00000836●●●●●●
3. 27505625 c.26C>T p.P9L missense 0.00001657●●●●●●
4. 27505633 c.34G>A p.G12R missense 0.00028912●●●●●●
5. 27505637 c.38A>T p.D13V missense 0.00000825●●●●●●
6. 27505643 c.44A>G p.H15R missense 0.00000825●●●●●●
7. 27505648 c.49A>G p.M17V missense 0.00000825●●●●●●
8. 27505649 c.50T>C p.M17T missense 0.00000825●●●●●●
9. 27505692 c.93G>T p.E31D missense 0.00000824●●●●●●
10. 27505693 c.94A>T p.M32L missense 0.00000825●●●●●●
11. 27505700 c.101C>T p.S34F missense 0.00000825●●●●●●
12. 27505711 c.112G>A p.V38M missense 0.00001651●●●●●●
13. 27505734 c.135C>G p.N45K missense 0.00000831●●●●●●
14. 27505736 c.137T>C p.L46P missense 0.00000831●●●●●●
15. 27505740 c.141C>A p.C47X nonsense 0.00001667●●●●●●
16. 27505741 c.142C>T p.R48C missense 0.00002502●●●●●●
17. 27505756 c.157G>A p.D53N missense 0.00000841●●●●●●
18. 27505767 c.168G>T p.Q56H missense 0.00001696●●●●●●
19. 27505771 c.168+4G>A splice site 0.00000851●●●●●●
20. 27505773 c.168+6T>C splice site 0.00005964●●●●●●
21. 27521430 c.169-5T>C splice site 0.00000835●●●●●●
22. 27521432 c.169-3C>T splice site 0.00001668●●●●●●
23. 27521439 c.173C>T p.S58L missense 0.00000830●●●●●●
24. 27521452 c.186G>T p.W62C missense 0.00000827●●●●●●
25. 27521459 c.193C>T p.R65W missense 0.00000826●●●●●●
26. 27521460 c.194G>A p.R65Q missense 0.00000826●●●●●●
27. 27521462 c.196G>A p.G66S missense 0.00001651●●●●●●
28. 27521463 c.197G>T p.G66V missense 0.00006604●●●●●●
29. 27521484 c.218G>C p.G73A missense 0.00001649●●●●●●
30. 27521489 c.223C>T p.R75C missense 0.00000825●●●●●●
31. 27521490 c.224G>A p.R75H missense 0.00004124●●●●●●
32. 27521496 c.230G>A p.R77H missense 0.00000825●●●●●●
33. 27521513 c.247C>T p.H83Y missense 0.00000825●●●●●●
34. 27521532 c.266G>A p.R89K missense 0.00001651●●●●●●
35. 27521546 c.280G>T p.G94C missense 0.00000827●●●●●●
36. 27521556 c.290G>A p.R97Q missense 0.00000828●●●●●●
37. 27521558 c.292A>G p.N98D missense 0.00000828●●●●●●
38. 27521560 c.294C>A p.N98K missense 0.00002486●●●●●●
39. 27521572 c.306G>T p.E102D missense 0.00003334●●●●●●
40. 27521576 c.310A>G p.I104V missense 0.00001670●●●●●●
41. 27521579 c.313A>G p.I105V missense 0.00000836●●●●●●
42. 27521582 c.316G>A p.D106N missense 0.00028458●●●●●●
43. 27521584 c.318_319insA p.Ile107AsnfsTer15 frameshift 0.00000839●●●●●●
44. 27521585 c.319A>C p.I107L missense 0.00000839●●●●●●
45. 27521586 c.320T>C p.I107T missense 0.00000839●●●●●●
46. 27521608 c.341+1G>T essential splice site 0.00000857●●●●●●
47. 27522108 c.342-5T>C splice site 0.00000827●●●●●●
48. 27522109 c.342-4C>T splice site 0.00014890●●●●●●
49. 27522113 c.342G>A splice site 0.00000827●●●●●●
50. 27522120 c.349C>T p.H117Y missense 0.00004130●●●●●●
51. 27522127 c.356A>G p.K119R missense 0.00000825●●●●●●
52. 27522148 c.377G>A p.C126Y missense 0.00000825●●●●●●
53. 27522150 c.379G>A p.E127K missense 0.00003299●●●●●●
54. 27522155 c.384G>T p.E128D missense 0.00061028●●●●●●
55. 27522155 c.384G>C p.E128D missense 0.00000825●●●●●●
56. 27522165 c.394G>T p.E132X nonsense 0.00008248●●●●●●
57. 27522165 c.394_396delGAG p.Glu132del inframe 0.00006598●●●●●●
58. 27522177 c.406A>G p.I136V missense 0.00000825●●●●●●
59. 27522195 c.424G>A p.E142K missense 0.00000826●●●●●●
60. 27522217 c.446G>T p.C149F missense 0.00000828●●●●●●
61. 27522217 c.446G>C p.C149S missense 0.00000828●●●●●●
62. 27522228 c.457G>A p.G153S missense 0.00002492●●●●●●
63. 27522229 c.458G>A p.G153D missense 0.00024101●●●●●●
64. 27522247 c.476delA p.Glu159GlyfsTer46 frameshift 0.00000838●●●●●●
65. 27522250 c.479T>G p.V160G missense 0.00000843●●●●●●
66. 27522252 c.481G>A p.A161T missense 0.00000846●●●●●●
67. 27522264 c.493A>G p.T165A missense 0.00001721●●●●●●
68. 27522265 c.494C>A p.T165N missense 0.00000861●●●●●●
69. 27522265 c.494_495insCT p.Ile166SerfsTer40 frameshift 0.00001721●●●●●●
70. 27522267 c.496A>G p.I166V missense 0.00003464●●●●●●
71. 27522270 c.499T>C p.Y167H missense 0.00000872●●●●●●
72. 27522276 c.505C>T p.R169C missense 0.00001772●●●●●●
73. 27522277 c.506G>A p.R169H missense 0.00001779●●●●●●
74. 27522284 c.513delG p.A172Pfs*64 frameshift 0.00030726●●●●●●
75. 27527825 c.640-2A>G essential splice site 0.00001806●●●●●●
76. 27527839 c.652G>A p.D218N missense 0.00006102●●●●●●
77. 27527848 c.661G>A p.A221T missense 0.00001721●●●●●●
78. 27527849 c.662C>T p.A221V missense 0.00000859●●●●●●
79. 27527872 c.685C>T p.R229C missense 0.00003408●●●●●●
80. 27527873 c.686G>A p.R229H missense 0.00003407●●●●●●
81. 27527873 c.686G>T p.R229L missense 0.00000852●●●●●●
82. 27527875 c.688G>A p.V230M missense 0.00006824●●●●●●
83. 27527875 c.688G>T p.V230L missense 0.00023883●●●●●●
84. 27527897 c.710T>G p.M237R missense 0.00043989●●●●●●
85. 27527917 c.730A>G p.I244V missense 0.00000899●●●●●●
86. 27527922 c.735G>A splice site 0.00010999●●●●●●
87. 27528446 c.736-6T>G splice site 0.00011120●●●●●●
88. 27528460 c.744C>G p.S248R missense 0.00000944●●●●●●
89. 27528461 c.745C>T p.R249W missense 0.00003759●●●●●●
90. 27528462 c.746G>A p.R249Q missense 0.00000933●●●●●●
91. 27528483 c.767_768insC p.Gln257ProfsTer4 frameshift 0.00000897●●●●●●
92. 27528490 c.774G>T p.R258S missense 0.00000895●●●●●●
93. 27528504 c.788G>A p.C263Y missense 0.00084873●●●●●●
94. 27528506 c.790G>A p.A264T missense 0.00000893●●●●●●
95. 27528512 c.796C>G p.L266V missense 0.00000893●●●●●●
96. 27528513 c.797T>A p.L266Q missense 0.00000893●●●●●●
97. 27528515 c.799G>A p.E267K missense 0.00000894●●●●●●
98. 27528521 c.805C>G p.R269G missense 0.00001795●●●●●●
99. 27528524 c.808A>G p.K270E missense 0.00000898●●●●●●
100. 27528543 c.827C>T p.A276V missense 0.00068114●●●●●●
101. 27528543 c.827C>A p.A276E missense 0.00001841●●●●●●
102. 27528551 c.835C>T p.R279W missense 0.00002790●●●●●●
103. 27528552 c.836G>A p.R279Q missense 0.00000932●●●●●●
104. 27528560 c.844G>C p.E282Q missense 0.00000936●●●●●●
105. 27528560 c.844_846delGAG p.Glu282del inframe 0.00000934●●●●●●
106. 27528572 c.856C>T p.Q286X nonsense 0.00000957●●●●●●
107. 27528575 c.859C>T p.R287C missense 0.00000964●●●●●●
108. 27528578 c.862G>A p.V288I missense 0.00003866●●●●●●
109. 27528581 c.865C>T p.R289C missense 0.00000970●●●●●●
110. 27528582 c.866G>A p.R289H missense 0.00000971●●●●●●
111. 27528584 c.868G>A p.G290S missense 0.00000974●●●●●●
112. 27528588 c.872T>C p.L291P missense 0.00001957●●●●●●
113. 27528593 c.877C>A p.R293S missense 0.00006903●●●●●●
114. 27528594 c.878G>A p.R293H missense 0.00000987●●●●●●
115. 27528596 c.880C>T p.Q294X nonsense 0.00002967●●●●●●
116. 27528599 c.883_884insA p.Tyr295Ter frameshift 0.00040657●●●●●●
117. 27528600 c.884A>G p.Y295C missense 0.00003973●●●●●●
118. 27528605 c.889G>A p.D297N missense 0.00006032●●●●●●
119. 27528605 c.889G>C p.D297H missense 0.00001005●●●●●●
120. 27528614 c.898G>C p.E300Q missense 0.00001019●●●●●●
121. 27528618 c.902_904delCCT p.Ser303del inframe 0.00001027●●●●●●
122. 27528632 c.916G>A p.V306M missense 0.00001065●●●●●●
123. 27528642 c.926C>A p.A309D missense 0.00001122●●●●●●
124. 27528647 c.931C>G p.Q311E missense 0.00001135●●●●●●
125. 27528647 c.931C>T p.Q311X nonsense 0.00001135●●●●●●
126. 27528648 c.932A>G p.Q311R missense 0.00001151●●●●●●
127. 27528653 c.937A>G p.M313V missense 0.00001169●●●●●●
128. 27528661 c.945G>T p.E315D missense 0.00002474●●●●●●
129. 27528670 c.954G>A p.M318I missense 0.00001293●●●●●●
130. 27528676 c.960_961insT p.Tyr321LeufsTer11 frameshift 0.00001390●●●●●●
131. 27528686 c.969+1G>C essential splice site 0.00001561●●●●●●
132. 27528692 c.969+7T>C splice site 0.41236150●●●●●●
133. 27528940 c.970-8C>T splice site 0.00000841●●●●●●
134. 27528967 c.989A>G p.N330S missense 0.00000834●●●●●●
135. 27528975 c.992+5G>A splice site 0.00000833●●●●●●
136. 27528975 c.992+5G>T splice site 0.00000833●●●●●●
137. 27528976 c.992+6T>C splice site 0.00003333●●●●●●
138. 27528978 c.992+8G>A splice site 0.00001666●●●●●●
139. 27528980 c.992+10C>T splice site 0.00035814●●●●●●
140. 27529077 c.993-4G>T splice site 0.00000827●●●●●●
141. 27529085 c.997G>T p.G333W missense 0.00000827●●●●●●
142. 27529086 c.998G>A p.G333E missense 0.00000827●●●●●●
143. 27529091 c.1003A>G p.M335V missense 0.00002481●●●●●●
144. 27529093 c.1005G>T p.M335I missense 0.00000827●●●●●●
145. 27529095 c.1007C>T p.S336L missense 0.00002481●●●●●●
146. 27529098 c.1010A>G p.K337R missense 0.00001654●●●●●●
147. 27529103 c.1015G>A p.E339K missense 0.00020674●●●●●●
148. 27529106 c.1018C>G p.L340V missense 0.00019849●●●●●●
149. 27529113 c.1025G>A p.G342E missense 0.00004961●●●●●●
150. 27529115 c.1027C>T p.R343W missense 0.00001654●●●●●●
151. 27529116 c.1028G>A p.R343Q missense 0.00002481●●●●●●
152. 27529119 c.1031C>T p.P344L missense 0.00004135●●●●●●
153. 27529121 c.1033G>C p.E345Q missense 0.00000827●●●●●●
154. 27529124 c.1036C>T p.P346S missense 0.00000827●●●●●●
155. 27529128 c.1040G>C p.G347A missense 0.00000827●●●●●●
156. 27529128 c.1040G>A p.G347D missense 0.00000827●●●●●●
157. 27529142 c.1054G>C p.E352Q missense 0.00001654●●●●●●
158. 27529142 c.1054G>A p.E352K missense 0.00000827●●●●●●
159. 27529145 c.1057C>G p.Q353E missense 0.00000827●●●●●●
160. 27529151 c.1063A>G p.T355A missense 0.00000827●●●●●●
161. 27529154 c.1066G>A p.V356I missense 0.00072789●●●●●●
162. 27529154 c.1066G>C p.V356L missense 0.00027296●●●●●●
163. 27529154 c.1066G>T p.V356L missense 0.00002481●●●●●●
164. 27529164 c.1076A>G p.E359G missense 0.00000827●●●●●●
165. 27529182 c.1094T>C p.L365P missense 0.00000828●●●●●●
166. 27529184 c.1096C>T p.R366W missense 0.00000828●●●●●●
167. 27529185 c.1097G>A p.R366Q missense 0.00000828●●●●●●
168. 27529185 c.1097G>C p.R366P missense 0.00002484●●●●●●
169. 27529192 c.1104C>G p.I368M missense 0.00000829●●●●●●
170. 27529206 c.1117+1G>C essential splice site 0.00005811●●●●●●
171. 27529324 c.1118G>T p.G373V missense 0.00014582●●●●●●
172. 27529325 c.1119C>A splice site 0.00001847●●●●●●
173. 27529325 c.1119C>T splice site 0.00001847●●●●●●
174. 27529326 c.1120G>A p.A374T missense 0.00005621●●●●●●
175. 27529332 c.1126G>A p.G376R missense 0.00001976●●●●●●
176. 27529333 c.1127G>A p.G376E missense 0.00002012●●●●●●
177. 27529335 c.1129G>A p.E377K missense 0.00004150●●●●●●
178. 27529359 c.1153G>T p.G385X nonsense 0.00002590●●●●●●
179. 27529367 c.1161G>C p.E387D missense 0.00015408●●●●●●
180. 27529381 c.1175C>T p.P392L missense 0.00015022●●●●●●
181. 27529396 c.1190C>T p.P397L missense 0.00005191●●●●●●

* 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.