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. 27505741 c.142C>T p.R48C missense 0.00002502●●●●●●
2. 27521463 c.197G>T p.G66V missense 0.00006604●●●●●●
3. 27521490 c.224G>A p.R75H missense 0.00004124●●●●●●
4. 27521576 c.310A>G p.I104V missense 0.00001670●●●●●●
5. 27521582 c.316G>A p.D106N missense 0.00028458●●●●●●
6. 27522150 c.379G>A p.E127K missense 0.00003299●●●●●●
7. 27522155 c.384G>T p.E128D missense 0.00061028●●●●●●
8. 27522228 c.457G>A p.G153S missense 0.00002492●●●●●●
9. 27522250 c.479T>G p.V160G missense 0.00000843●●●●●●
10. 27522267 c.496A>G p.I166V missense 0.00003464●●●●●●
11. 27527839 c.652G>A p.D218N missense 0.00006102●●●●●●
12. 27527875 c.688G>A p.V230M missense 0.00006824●●●●●●
13. 27527897 c.710T>G p.M237R missense 0.00043989●●●●●●
14. 27528504 c.788G>A p.C263Y missense 0.00084873●●●●●●
15. 27528543 c.827C>T p.A276V missense 0.00068114●●●●●●
16. 27528578 c.862G>A p.V288I missense 0.00003866●●●●●●
17. 27528582 c.866G>A p.R289H missense 0.00000971●●●●●●
18. 27528593 c.877C>A p.R293S missense 0.00006903●●●●●●
19. 27528600 c.884A>G p.Y295C missense 0.00003973●●●●●●
20. 27528605 c.889G>A p.D297N missense 0.00006032●●●●●●
21. 27529103 c.1015G>A p.E339K missense 0.00020674●●●●●●
22. 27529106 c.1018C>G p.L340V missense 0.00019849●●●●●●
23. 27529113 c.1025G>A p.G342E missense 0.00004961●●●●●●
24. 27529121 c.1033G>C p.E345Q missense 0.00000827●●●●●●
25. 27529154 c.1066G>A p.V356I missense 0.00072789●●●●●●
26. 27529154 c.1066G>C p.V356L missense 0.00027296●●●●●●
27. 27505767 c.168G>T p.Q56H missense 0.00001696●●●●●●
28. 27521459 c.193C>T p.R65W missense 0.00000826●●●●●●
29. 27521484 c.218G>C p.G73A missense 0.00001649●●●●●●
30. 27527873 c.686G>A p.R229H missense 0.00003407●●●●●●
31. 27528461 c.745C>T p.R249W missense 0.00003759●●●●●●
32. 27528513 c.797T>A p.L266Q missense 0.00000893●●●●●●
33. 27528521 c.805C>G p.R269G missense 0.00001795●●●●●●
34. 27528588 c.872T>C p.L291P missense 0.00001957●●●●●●
35. 27528614 c.898G>C p.E300Q missense 0.00001019●●●●●●
36. 27528632 c.916G>A p.V306M missense 0.00001065●●●●●●
37. 27528653 c.937A>G p.M313V missense 0.00001169●●●●●●
38. 27529324 c.1118G>T p.G373V missense 0.00014582●●●●●●
39. 27529367 c.1161G>C p.E387D missense 0.00015408●●●●●●
40. 27527917 c.730A>G p.I244V missense 0.00000899●●●●●●
41. 27528551 c.835C>T p.R279W missense 0.00002790●●●●●●
42. 27505633 c.34G>A p.G12R missense 0.00028912●●●●●●
43. 27505637 c.38A>T p.D13V missense 0.00000825●●●●●●
44. 27521462 c.196G>A p.G66S missense 0.00001651●●●●●●
45. 27521560 c.294C>A p.N98K missense 0.00002486●●●●●●
46. 27522229 c.458G>A p.G153D missense 0.00024101●●●●●●
47. 27527875 c.688G>T p.V230L missense 0.00023883●●●●●●
48. 27528524 c.808A>G p.K270E missense 0.00000898●●●●●●
49. 27528967 c.989A>G p.N330S missense 0.00000834●●●●●●
50. 27529145 c.1057C>G p.Q353E missense 0.00000827●●●●●●
51. 27521546 c.280G>T p.G94C missense 0.00000827●●●●●●
52. 27527849 c.662C>T p.A221V missense 0.00000859●●●●●●
53. 27505609 c.10A>G p.T4A missense 0.00000839●●●●●●
54. 27505613 c.14T>G p.V5G missense 0.00000836●●●●●●
55. 27505625 c.26C>T p.P9L missense 0.00001657●●●●●●
56. 27505643 c.44A>G p.H15R missense 0.00000825●●●●●●
57. 27505648 c.49A>G p.M17V missense 0.00000825●●●●●●
58. 27505649 c.50T>C p.M17T missense 0.00000825●●●●●●
59. 27505692 c.93G>T p.E31D missense 0.00000824●●●●●●
60. 27505693 c.94A>T p.M32L missense 0.00000825●●●●●●
61. 27505700 c.101C>T p.S34F missense 0.00000825●●●●●●
62. 27505711 c.112G>A p.V38M missense 0.00001651●●●●●●
63. 27505734 c.135C>G p.N45K missense 0.00000831●●●●●●
64. 27505736 c.137T>C p.L46P missense 0.00000831●●●●●●
65. 27505756 c.157G>A p.D53N missense 0.00000841●●●●●●
66. 27521439 c.173C>T p.S58L missense 0.00000830●●●●●●
67. 27521452 c.186G>T p.W62C missense 0.00000827●●●●●●
68. 27521460 c.194G>A p.R65Q missense 0.00000826●●●●●●
69. 27521489 c.223C>T p.R75C missense 0.00000825●●●●●●
70. 27521496 c.230G>A p.R77H missense 0.00000825●●●●●●
71. 27521513 c.247C>T p.H83Y missense 0.00000825●●●●●●
72. 27521532 c.266G>A p.R89K missense 0.00001651●●●●●●
73. 27521556 c.290G>A p.R97Q missense 0.00000828●●●●●●
74. 27521558 c.292A>G p.N98D missense 0.00000828●●●●●●
75. 27521572 c.306G>T p.E102D missense 0.00003334●●●●●●
76. 27521579 c.313A>G p.I105V missense 0.00000836●●●●●●
77. 27521585 c.319A>C p.I107L missense 0.00000839●●●●●●
78. 27521586 c.320T>C p.I107T missense 0.00000839●●●●●●
79. 27522120 c.349C>T p.H117Y missense 0.00004130●●●●●●
80. 27522127 c.356A>G p.K119R missense 0.00000825●●●●●●
81. 27522148 c.377G>A p.C126Y missense 0.00000825●●●●●●
82. 27522155 c.384G>C p.E128D missense 0.00000825●●●●●●
83. 27522177 c.406A>G p.I136V missense 0.00000825●●●●●●
84. 27522195 c.424G>A p.E142K missense 0.00000826●●●●●●
85. 27522217 c.446G>T p.C149F missense 0.00000828●●●●●●
86. 27522217 c.446G>C p.C149S missense 0.00000828●●●●●●
87. 27522252 c.481G>A p.A161T missense 0.00000846●●●●●●
88. 27522264 c.493A>G p.T165A missense 0.00001721●●●●●●
89. 27522265 c.494C>A p.T165N missense 0.00000861●●●●●●
90. 27522270 c.499T>C p.Y167H missense 0.00000872●●●●●●
91. 27522276 c.505C>T p.R169C missense 0.00001772●●●●●●
92. 27522277 c.506G>A p.R169H missense 0.00001779●●●●●●
93. 27527848 c.661G>A p.A221T missense 0.00001721●●●●●●
94. 27527872 c.685C>T p.R229C missense 0.00003408●●●●●●
95. 27527873 c.686G>T p.R229L missense 0.00000852●●●●●●
96. 27528460 c.744C>G p.S248R missense 0.00000944●●●●●●
97. 27528462 c.746G>A p.R249Q missense 0.00000933●●●●●●
98. 27528490 c.774G>T p.R258S missense 0.00000895●●●●●●
99. 27528506 c.790G>A p.A264T missense 0.00000893●●●●●●
100. 27528512 c.796C>G p.L266V missense 0.00000893●●●●●●
101. 27528515 c.799G>A p.E267K missense 0.00000894●●●●●●
102. 27528543 c.827C>A p.A276E missense 0.00001841●●●●●●
103. 27528552 c.836G>A p.R279Q missense 0.00000932●●●●●●
104. 27528560 c.844G>C p.E282Q missense 0.00000936●●●●●●
105. 27528575 c.859C>T p.R287C missense 0.00000964●●●●●●
106. 27528581 c.865C>T p.R289C missense 0.00000970●●●●●●
107. 27528584 c.868G>A p.G290S missense 0.00000974●●●●●●
108. 27528594 c.878G>A p.R293H missense 0.00000987●●●●●●
109. 27528605 c.889G>C p.D297H missense 0.00001005●●●●●●
110. 27528642 c.926C>A p.A309D missense 0.00001122●●●●●●
111. 27528647 c.931C>G p.Q311E missense 0.00001135●●●●●●
112. 27528648 c.932A>G p.Q311R missense 0.00001151●●●●●●
113. 27528661 c.945G>T p.E315D missense 0.00002474●●●●●●
114. 27528670 c.954G>A p.M318I missense 0.00001293●●●●●●
115. 27529085 c.997G>T p.G333W missense 0.00000827●●●●●●
116. 27529086 c.998G>A p.G333E missense 0.00000827●●●●●●
117. 27529091 c.1003A>G p.M335V missense 0.00002481●●●●●●
118. 27529093 c.1005G>T p.M335I missense 0.00000827●●●●●●
119. 27529095 c.1007C>T p.S336L missense 0.00002481●●●●●●
120. 27529098 c.1010A>G p.K337R missense 0.00001654●●●●●●
121. 27529115 c.1027C>T p.R343W missense 0.00001654●●●●●●
122. 27529116 c.1028G>A p.R343Q missense 0.00002481●●●●●●
123. 27529119 c.1031C>T p.P344L missense 0.00004135●●●●●●
124. 27529124 c.1036C>T p.P346S missense 0.00000827●●●●●●
125. 27529128 c.1040G>C p.G347A missense 0.00000827●●●●●●
126. 27529128 c.1040G>A p.G347D missense 0.00000827●●●●●●
127. 27529142 c.1054G>C p.E352Q missense 0.00001654●●●●●●
128. 27529142 c.1054G>A p.E352K missense 0.00000827●●●●●●
129. 27529151 c.1063A>G p.T355A missense 0.00000827●●●●●●
130. 27529154 c.1066G>T p.V356L missense 0.00002481●●●●●●
131. 27529164 c.1076A>G p.E359G missense 0.00000827●●●●●●
132. 27529182 c.1094T>C p.L365P missense 0.00000828●●●●●●
133. 27529184 c.1096C>T p.R366W missense 0.00000828●●●●●●
134. 27529185 c.1097G>A p.R366Q missense 0.00000828●●●●●●
135. 27529185 c.1097G>C p.R366P missense 0.00002484●●●●●●
136. 27529192 c.1104C>G p.I368M missense 0.00000829●●●●●●
137. 27529326 c.1120G>A p.A374T missense 0.00005621●●●●●●
138. 27529332 c.1126G>A p.G376R missense 0.00001976●●●●●●
139. 27529333 c.1127G>A p.G376E missense 0.00002012●●●●●●
140. 27529335 c.1129G>A p.E377K missense 0.00004150●●●●●●
141. 27529381 c.1175C>T p.P392L missense 0.00015022●●●●●●
142. 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.