TRDN missense variants in ExAC


The table below lists the TRDN 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 frequencyPopulations*
1. 123687288 c.1313T>G p.I438S missense 0.92397194
2. 123833457 c.601C>G p.L201V missense 0.82588013
3. 123869607 c.383C>G p.T128S missense 0.49255762
4. 123699019 c.1211T>G p.V404G missense 0.20036793
5. 123696766 c.1257C>A p.D419E missense 0.13740491
6. 123658776 c.1408C>A p.L470M missense 0.05786695
7. 123594486 c.1620A>G p.I540M missense 0.03434877
8. 123868506 c.403G>A p.E135K missense 0.00730602
9. 123687288 c.1313T>A p.I438N missense 0.00691466
10. 123759243 c.1016G>A p.S339N missense 0.00519268
11. 123714778 c.1096G>A p.A366T missense 0.00511020
12. 123851705 c.430C>T p.H144Y missense 0.00403226
13. 123869716 c.274G>A p.V92I missense 0.00353237
14. 123837334 c.502G>A p.E168K missense 0.00190785
15. 123673686 c.1367A>G p.Q456R missense 0.00122751
16. 123592291 c.1713A>C p.E571D missense 0.00074613
17. 123869623 c.367G>A p.D123N missense 0.00069724
18. 123637602 c.1510G>A p.G504S missense 0.00060415
19. 123600207 c.1531C>A p.P511T missense 0.00056502
20. 123824929 c.728C>T p.T243I missense 0.00052796
21. 123869713 c.277C>T p.R93C missense 0.00048683
22. 123581777 c.1811C>A p.T604K missense 0.00041182
23. 123869751 c.239C>T p.S80F missense 0.00036441
24. 123594154 c.1627C>A p.Q543K missense 0.00034638
25. 123892229 c.71T>A p.V24E missense 0.00033970
26. 123818394 c.797A>G p.Q266R missense 0.00030098
27. 123580775 c.1864A>G p.S622G missense 0.00029234
28. 123592313 c.1691A>G p.Q564R missense 0.00027076
29. 123868490 c.419A>G p.K140R missense 0.00023215
30. 123577023 c.1895G>A p.R632K missense 0.00022802
31. 123714819 c.1055C>T p.P352L missense 0.00021977
32. 123595807 c.1576A>C p.I526L missense 0.00021461
33. 123786098 c.884C>T p.P295L missense 0.00017182
34. 123699037 c.1193A>T p.E398V missense 0.00015559
35. 123824963 c.694C>A p.Q232K missense 0.00014978
36. 123833483 c.575A>C p.K192T missense 0.00012711
37. 123594112 c.1669C>T p.P557S missense 0.00012361
38. 123786069 c.913G>A p.A305T missense 0.00011946
39. 123588881 c.1754G>A p.R585Q missense 0.00010692
40. 123714811 c.1063G>T p.A355S missense 0.00009972
41. 123892215 c.85G>A p.G29R missense 0.00009113
42. 123687319 c.1282C>G p.R428G missense 0.00008458
43. 123702527 c.1174C>T p.P392S missense 0.00007568
44. 123760089 c.991G>A p.E331K missense 0.00007484
45. 123539749 c.2187G>T p.Q729H missense 0.00006788
46. 123892275 c.25A>G p.N9D missense 0.00006681
47. 123869625 c.365A>G p.D122G missense 0.00006578
48. 123539805 c.2131C>T p.R711C missense 0.00006362
49. 123714769 c.1105G>A p.A369T missense 0.00006343
50. 123892172 c.128C>T p.T43M missense 0.00005798
51. 123577024 c.1894A>G p.R632G missense 0.00005703
52. 123539852 c.2084A>T p.D695V missense 0.00005290
53. 123687297 c.1304C>T p.A435V missense 0.00005038
54. 123892104 c.196G>A p.V66I missense 0.00004971
55. 123837286 c.550G>T p.A184S missense 0.00004939
56. 123580793 c.1846G>A p.E616K missense 0.00004881
57. 123599486 c.1544A>G p.Q515R missense 0.00004836
58. 123599483 c.1547G>A p.G516E missense 0.00004828
59. 123599483 c.1547G>C p.G516A missense 0.00004828
60. 123703263 c.1165G>T p.V389L missense 0.00004818
61. 123837351 c.485T>G p.V162G missense 0.00004804
62. 123837345 c.491A>G p.H164R missense 0.00004766
63. 123586466 c.1801C>G p.P601A missense 0.00004680
64. 123576267 c.1910C>T p.S637L missense 0.00004648
65. 123576265 c.1912A>G p.T638A missense 0.00004643
66. 123576246 c.1931A>C p.Q644P missense 0.00004597
67. 123581777 c.1811C>T p.T604I missense 0.00004576
68. 123581780 c.1808G>C p.G603A missense 0.00004564
69. 123592304 c.1700C>A p.A567D missense 0.00004557
70. 123592304 c.1700C>T p.A567V missense 0.00004557
71. 123588864 c.1771T>C p.S591P missense 0.00004479
72. 123595800 c.1583A>G p.K528R missense 0.00004467
73. 123581769 c.1819G>A p.V607I missense 0.00004464
74. 123696774 c.1249C>G p.P417A missense 0.00004393
75. 123588870 c.1765C>A p.P589T missense 0.00004341
76. 123594153 c.1628A>G p.Q543R missense 0.00004311
77. 123759217 c.1042G>C p.E348Q missense 0.00004143
78. 123786122 c.860G>A p.S287N missense 0.00004027
79. 123833467 c.591A>C p.E197D missense 0.00003985
80. 123760093 c.987G>T p.K329N missense 0.00003728
81. 123869655 c.335A>T p.D112V missense 0.00003631
82. 123824930 c.727A>G p.T243A missense 0.00003560
83. 123590999 c.1733C>A p.P578Q missense 0.00003533
84. 123687297 c.1304C>A p.A435E missense 0.00003359
85. 123957904 c.17C>T p.A6V missense 0.00003331
86. 123892175 c.125C>T p.T42M missense 0.00003313
87. 123892166 c.134G>T p.S45I missense 0.00003313
88. 123818379 c.812G>C p.R271P missense 0.00003258
89. 123539804 c.2132G>A p.R711H missense 0.00003147
90. 123539843 c.2093A>G p.N698S missense 0.00003124
91. 123539801 c.2135C>T p.P712L missense 0.00003056
92. 123539793 c.2143A>G p.S715G missense 0.00002863
93. 123759232 c.1027A>T p.T343S missense 0.00002786
94. 123539826 c.2110T>A p.F704I missense 0.00002596
95. 123687318 c.1283G>A p.R428Q missense 0.00002537
96. 123824903 c.754G>T p.D252Y missense 0.00002522
97. 123542661 c.2021C>A p.T674N missense 0.00002521
98. 123673692 c.1361T>C p.V454A missense 0.00002520
99. 123545256 c.1996G>A p.A666T missense 0.00002503
100. 123539822 c.2114C>T p.P705L missense 0.00002499
101. 123892248 c.52G>C p.D18H missense 0.00002487
102. 123892173 c.127A>G p.T43A missense 0.00002485
103. 123588852 c.1783G>A p.D595N missense 0.00002432
104. 123833453 c.605C>T p.A202V missense 0.00002405
105. 123824962 c.695A>C p.Q232P missense 0.00002288
106. 123588863 c.1772C>G p.S591C missense 0.00002259
107. 123709696 c.1106C>T p.A369V missense 0.00002233
108. 123709672 c.1130A>G p.K377R missense 0.00002163
109. 123588873 c.1762G>A p.E588K missense 0.00002153
110. 123824951 c.706A>G p.K236E missense 0.00002138
111. 123869706 c.284C>T p.A95V missense 0.00002077
112. 123786080 c.902G>A p.R301K missense 0.00002027
113. 123539798 c.2138G>A p.G713E missense 0.00001990
114. 123786121 c.861C>A p.S287R missense 0.00001985
115. 123869680 c.310T>A p.Y104N missense 0.00001965
116. 123786117 c.865G>A p.A289T missense 0.00001954
117. 123824998 c.659A>G p.K220R missense 0.00001853
118. 123595794 c.1589C>G p.A530G missense 0.00001794
119. 123539849 c.2087G>A p.G696E missense 0.00001701
120. 123539754 c.2182G>A p.G728R missense 0.00001701
121. 123600219 c.1519G>A p.V507I missense 0.00001693
122. 123600201 c.1537C>A p.Q513K missense 0.00001685
123. 123673722 c.1331G>A p.G444E missense 0.00001682
124. 123869638 c.352G>T p.D118Y missense 0.00001680
125. 123687294 c.1307T>C p.V436A missense 0.00001677
126. 123957907 c.14C>G p.T5S missense 0.00001666
127. 123892104 c.196G>T p.V66F missense 0.00001657
128. 123892181 c.119T>C p.I40T missense 0.00001657
129. 123892211 c.89A>G p.K30R missense 0.00001657
130. 123892127 c.173T>A p.I58N missense 0.00001657
131. 123869633 c.357A>C p.E119D missense 0.00001649
132. 123824992 c.665T>G p.V222G missense 0.00001621
133. 123759256 c.1003A>C p.I335L missense 0.00001576
134. 123539844 c.2092A>C p.N698H missense 0.00001576
135. 123714819 c.1055C>A p.P352Q missense 0.00001465
136. 123759240 c.1019A>G p.E340G missense 0.00001445
137. 123714814 c.1060A>G p.K354E missense 0.00001441
138. 123759216 c.1043A>G p.E348G missense 0.00001382
139. 123539827 c.2109G>T p.Q703H missense 0.00001301
140. 123542654 c.2028T>G p.D676E missense 0.00001225
141. 123824966 c.691A>G p.K231E missense 0.00001176
142. 123539814 c.2122C>T p.P708S missense 0.00001172
143. 123824950 c.707A>C p.K236T missense 0.00001069
144. 123539801 c.2135C>G p.P712R missense 0.00001019
145. 123824944 c.713A>G p.K238R missense 0.00000965
146. 123539787 c.2149G>T p.G717C missense 0.00000917
147. 123595795 c.1588G>A p.A530T missense 0.00000896
148. 123595806 c.1577T>C p.I526T missense 0.00000893
149. 123595803 c.1580A>G p.K527R missense 0.00000893
150. 123595801 c.1582A>G p.K528E missense 0.00000893
151. 123590997 c.1735A>G p.T579A missense 0.00000884
152. 123539776 c.2160T>G p.N720K missense 0.00000873
153. 123687322 c.1279G>C p.E427Q missense 0.00000848
154. 123600220 c.1518A>T p.E506D missense 0.00000847
155. 123600206 c.1532C>T p.P511L missense 0.00000843
156. 123687303 c.1298T>C p.I433T missense 0.00000840
157. 123824897 c.760G>A p.E254K missense 0.00000840
158. 123824867 c.790A>G p.K264E missense 0.00000840
159. 123637606 c.1506A>C p.K502N missense 0.00000839
160. 123824895 c.762G>C p.E254D missense 0.00000839
161. 123892277 c.23G>C p.G8A missense 0.00000838
162. 123545250 c.2002A>C p.K668Q missense 0.00000835
163. 123545273 c.1979A>G p.D660G missense 0.00000835
164. 123545243 c.2009C>T p.A670V missense 0.00000835
165. 123545263 c.1989T>A p.D663E missense 0.00000834
166. 123545264 c.1988A>G p.D663G missense 0.00000834
167. 123545262 c.1990G>A p.V664I missense 0.00000834
168. 123957913 c.8A>T p.E3V missense 0.00000833
169. 123957920 c.1A>G p.Met1? missense 0.00000833
170. 123892268 c.32C>T p.S11F missense 0.00000832
171. 123892079 c.221A>G p.K74R missense 0.00000830
172. 123892076 c.224A>T p.N75I missense 0.00000830
173. 123892100 c.200T>C p.M67T missense 0.00000829
174. 123892220 c.80C>T p.S27F missense 0.00000829
175. 123698878 c.1229C>A p.P410Q missense 0.00000829
176. 123892249 c.51A>G p.I17M missense 0.00000829
177. 123892220 c.80C>G p.S27C missense 0.00000829
178. 123698885 c.1222A>G p.K408E missense 0.00000829
179. 123892218 c.82C>T p.P28S missense 0.00000829
180. 123892196 c.104C>T p.T35I missense 0.00000828
181. 123892166 c.134G>A p.S45N missense 0.00000828
182. 123892121 c.179G>T p.W60L missense 0.00000828
183. 123892124 c.176C>T p.T59M missense 0.00000828
184. 123892182 c.118A>G p.I40V missense 0.00000828
185. 123892175 c.125C>G p.T42R missense 0.00000828
186. 123892184 c.116A>T p.D39V missense 0.00000828
187. 123892215 c.85G>C p.G29R missense 0.00000828

* 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.