TRIM54 missense variants in ExAC

TRIM54 gene summary
TRIM54 variants in

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