TRDN variants in ExAC

TRDN gene summary
TRDN variants in

The table below lists the TRDN 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. 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. 123581792 c.1805-9_1805-8insT splice site 0.43349389●●●●●●
5. 123699042 c.1188A>G p.K396K splice site 0.34231166●●●●●●
6. 123658825 c.1370-11C>A splice site 0.27490138●●●●●●
7. 123594511 c.1598-3dupT splice site 0.27038917●●●●●●
8. 123699019 c.1211T>G p.V404G missense 0.20036793●●●●●●
9. 123696766 c.1257C>A p.D419E missense 0.13740491●●●●●●
10. 123581789 c.1805-6C>T splice site 0.11695690●●●●●●
11. 123581792 c.1805-9_1805-8insTT splice site 0.06354205●●●●●●
12. 123658776 c.1408C>A p.L470M missense 0.05786695●●●●●●
13. 123714764 c.1105+5G>A splice site 0.05190481●●●●●●
14. 123594486 c.1620A>G p.I540M missense 0.03434877●●●●●●
15. 123581791 c.1805-8_1805-6delTTCinsTC splice site 0.02253921●●●●●●
16. 123868506 c.403G>A p.E135K missense 0.00730602●●●●●●
17. 123687288 c.1313T>A p.I438N missense 0.00691466●●●●●●
18. 123759243 c.1016G>A p.S339N missense 0.00519268●●●●●●
19. 123714778 c.1096G>A p.A366T missense 0.00511020●●●●●●
20. 123760152 c.932-4C>G splice site 0.00427481●●●●●●
21. 123581792 c.1805-9_1805-8insTTT splice site 0.00407558●●●●●●
22. 123851705 c.430C>T p.H144Y missense 0.00403226●●●●●●
23. 123869716 c.274G>A p.V92I missense 0.00353237●●●●●●
24. 123837333 c.503_508delAAAAAG p.Glu168_Lys170del inframe 0.00321118●●●●●●
25. 123699045 c.1187-2A>G essential splice site 0.00204273●●●●●●
26. 123837334 c.502G>A p.E168K missense 0.00190785●●●●●●
27. 123581791 c.1805-8_1805-7delTT splice site 0.00142028●●●●●●
28. 123591015 c.1721-4A>G splice site 0.00123287●●●●●●
29. 123673686 c.1367A>G p.Q456R missense 0.00122751●●●●●●
30. 123592291 c.1713A>C p.E571D missense 0.00074613●●●●●●
31. 123869623 c.367G>A p.D123N missense 0.00069724●●●●●●
32. 123637602 c.1510G>A p.G504S missense 0.00060415●●●●●●
33. 123600207 c.1531C>A p.P511T missense 0.00056502●●●●●●
34. 123824929 c.728C>T p.T243I missense 0.00052796●●●●●●
35. 123869713 c.277C>T p.R93C missense 0.00048683●●●●●●
36. 123581777 c.1811C>A p.T604K missense 0.00041182●●●●●●
37. 123573548 c.1975+9G>A splice site 0.00038973●●●●●●
38. 123869751 c.239C>T p.S80F missense 0.00036441●●●●●●
39. 123594154 c.1627C>A p.Q543K missense 0.00034638●●●●●●
40. 123892229 c.71T>A p.V24E missense 0.00033970●●●●●●
41. 123539855 c.2081T>A p.L694X nonsense 0.00031360●●●●●●
42. 123699007 c.1219+4A>G splice site 0.00030251●●●●●●
43. 123818394 c.797A>G p.Q266R missense 0.00030098●●●●●●
44. 123580775 c.1864A>G p.S622G missense 0.00029234●●●●●●
45. 123592313 c.1691A>G p.Q564R missense 0.00027076●●●●●●
46. 123868490 c.419A>G p.K140R missense 0.00023215●●●●●●
47. 123577023 c.1895G>A p.R632K missense 0.00022802●●●●●●
48. 123714819 c.1055C>T p.P352L missense 0.00021977●●●●●●
49. 123595807 c.1576A>C p.I526L missense 0.00021461●●●●●●
50. 123592339 c.1673-8T>C splice site 0.00018620●●●●●●
51. 123786098 c.884C>T p.P295L missense 0.00017182●●●●●●
52. 123600200 c.1537+1G>A essential splice site 0.00016003●●●●●●
53. 123699037 c.1193A>T p.E398V missense 0.00015559●●●●●●
54. 123824963 c.694C>A p.Q232K missense 0.00014978●●●●●●
55. 123580811 c.1832-4C>A splice site 0.00014683●●●●●●
56. 123687319 c.1282C>T p.R428X nonsense 0.00013533●●●●●●
57. 123833483 c.575A>C p.K192T missense 0.00012711●●●●●●
58. 123594112 c.1669C>T p.P557S missense 0.00012361●●●●●●
59. 123573588 c.1952-8C>T splice site 0.00012275●●●●●●
60. 123588851 c.1783+1G>A essential splice site 0.00012248●●●●●●
61. 123786069 c.913G>A p.A305T missense 0.00011946●●●●●●
62. 123709704 c.1106-8T>C splice site 0.00011323●●●●●●
63. 123588881 c.1754G>A p.R585Q missense 0.00010692●●●●●●
64. 123595776 c.1597+10G>T splice site 0.00010073●●●●●●
65. 123714811 c.1063G>T p.A355S missense 0.00009972●●●●●●
66. 123595819 c.1568-4T>A splice site 0.00009903●●●●●●
67. 123592334 c.1673-3C>G splice site 0.00009200●●●●●●
68. 123892215 c.85G>A p.G29R missense 0.00009113●●●●●●
69. 123539840 c.2096delG p.Gly699AlafsTer45 frameshift 0.00008969●●●●●●
70. 123687319 c.1282C>G p.R428G missense 0.00008458●●●●●●
71. 123653023 c.1471+1G>A essential splice site 0.00008449●●●●●●
72. 123594101 c.1672+8G>T splice site 0.00008298●●●●●●
73. 123702527 c.1174C>T p.P392S missense 0.00007568●●●●●●
74. 123760089 c.991G>A p.E331K missense 0.00007484●●●●●●
75. 123818335 c.853+3A>G splice site 0.00007061●●●●●●
76. 123539749 c.2187G>T p.Q729H missense 0.00006788●●●●●●
77. 123892275 c.25A>G p.N9D missense 0.00006681●●●●●●
78. 123869625 c.365A>G p.D122G missense 0.00006578●●●●●●
79. 123573549 c.1975+8C>T splice site 0.00006513●●●●●●
80. 123539805 c.2131C>T p.R711C missense 0.00006362●●●●●●
81. 123714769 c.1105G>A p.A369T missense 0.00006343●●●●●●
82. 123786049 c.931+2C>A essential splice site 0.00006147●●●●●●
83. 123892247 c.53_56delACAG frameshift 0.00005802●●●●●●
84. 123892172 c.128C>T p.T43M missense 0.00005798●●●●●●
85. 123577024 c.1894A>G p.R632G missense 0.00005703●●●●●●
86. 123577024 c.1894_1895insA p.Arg632LysfsTer31 frameshift 0.00005701●●●●●●
87. 123658776 c.1408delC p.Leu470Ter frameshift 0.00005333●●●●●●
88. 123851644 c.484+7delA splice site 0.00005301●●●●●●
89. 123851644 c.484+7A>C splice site 0.00005296●●●●●●
90. 123539852 c.2084A>T p.D695V missense 0.00005290●●●●●●
91. 123594474 c.1624+8T>C splice site 0.00005110●●●●●●
92. 123539757 c.2179C>T p.Q727X nonsense 0.00005106●●●●●●
93. 123658818 c.1370-4G>A splice site 0.00005079●●●●●●
94. 123687297 c.1304C>T p.A435V missense 0.00005038●●●●●●
95. 123957891 c.22+8T>C splice site 0.00004999●●●●●●
96. 123892104 c.196G>A p.V66I missense 0.00004971●●●●●●
97. 123703293 c.1136-1G>A essential splice site 0.00004940●●●●●●
98. 123837286 c.550G>T p.A184S missense 0.00004939●●●●●●
99. 123580793 c.1846G>A p.E616K missense 0.00004881●●●●●●
100. 123580768 c.1870+1G>T essential splice site 0.00004877●●●●●●
101. 123580772 c.1867A>T p.K623X nonsense 0.00004874●●●●●●
102. 123837359 c.485-8C>A splice site 0.00004860●●●●●●
103. 123599486 c.1544A>G p.Q515R missense 0.00004836●●●●●●
104. 123599483 c.1547G>C p.G516A missense 0.00004828●●●●●●
105. 123599483 c.1547G>A p.G516E missense 0.00004828●●●●●●
106. 123573585 c.1952-5T>C splice site 0.00004828●●●●●●
107. 123703263 c.1165G>T p.V389L missense 0.00004818●●●●●●
108. 123837353 c.485-2A>G essential splice site 0.00004810●●●●●●
109. 123837351 c.485T>G p.V162G missense 0.00004804●●●●●●
110. 123837345 c.491A>G p.H164R missense 0.00004766●●●●●●
111. 123868522 c.392-5T>C splice site 0.00004683●●●●●●
112. 123586466 c.1801C>G p.P601A missense 0.00004680●●●●●●
113. 123576272 c.1907-2A>G essential splice site 0.00004678●●●●●●
114. 123868486 c.423delA p.E142Kfs*33 frameshift 0.00004662●●●●●●
115. 123576267 c.1910C>T p.S637L missense 0.00004648●●●●●●
116. 123576265 c.1912A>G p.T638A missense 0.00004643●●●●●●
117. 123576246 c.1931A>C p.Q644P missense 0.00004597●●●●●●
118. 123576243 c.1934T>G p.L645X nonsense 0.00004593●●●●●●
119. 123576220 c.1951+6C>A splice site 0.00004588●●●●●●
120. 123581777 c.1811C>T p.T604I missense 0.00004576●●●●●●
121. 123581780 c.1808G>C p.G603A missense 0.00004564●●●●●●
122. 123592304 c.1700C>T p.A567V missense 0.00004557●●●●●●
123. 123592304 c.1700C>A p.A567D missense 0.00004557●●●●●●
124. 123588864 c.1771T>C p.S591P missense 0.00004479●●●●●●
125. 123594164 c.1625-8A>G splice site 0.00004474●●●●●●
126. 123595800 c.1583A>G p.K528R missense 0.00004467●●●●●●
127. 123581769 c.1819G>A p.V607I missense 0.00004464●●●●●●
128. 123581748 c.1831+9T>C splice site 0.00004456●●●●●●
129. 123696784 c.1247-8A>G splice site 0.00004402●●●●●●
130. 123696774 c.1249C>G p.P417A missense 0.00004393●●●●●●
131. 123588870 c.1765C>A p.P589T missense 0.00004341●●●●●●
132. 123573550 c.1975+7A>G splice site 0.00004320●●●●●●
133. 123594153 c.1628A>G p.Q543R missense 0.00004311●●●●●●
134. 123653017 c.1471+7T>G splice site 0.00004285●●●●●●
135. 123759217 c.1042G>C p.E348Q missense 0.00004143●●●●●●
136. 123786122 c.860G>A p.S287N missense 0.00004027●●●●●●
137. 123833467 c.591A>C p.E197D missense 0.00003985●●●●●●
138. 123760087 c.991+2_991+5delTAGG essential splice site 0.00003791●●●●●●
139. 123702511 c.1186+4A>G splice site 0.00003756●●●●●●
140. 123760093 c.987G>T p.K329N missense 0.00003728●●●●●●
141. 123760143 c.937G>T p.E313X nonsense 0.00003725●●●●●●
142. 123869655 c.335A>T p.D112V missense 0.00003631●●●●●●
143. 123824930 c.727A>G p.T243A missense 0.00003560●●●●●●
144. 123590999 c.1733C>A p.P578Q missense 0.00003533●●●●●●
145. 123818335 c.853+3A>T splice site 0.00003531●●●●●●
146. 123786043 c.931+8C>T splice site 0.00003403●●●●●●
147. 123600201 c.1537C>T p.Q513X nonsense 0.00003369●●●●●●
148. 123687297 c.1304C>A p.A435E missense 0.00003359●●●●●●
149. 123957904 c.17C>T p.A6V missense 0.00003331●●●●●●
150. 123892175 c.125C>T p.T42M missense 0.00003313●●●●●●
151. 123892166 c.134G>T p.S45I missense 0.00003313●●●●●●
152. 123818379 c.812G>C p.R271P missense 0.00003258●●●●●●
153. 123825044 c.613C>T p.Q205X nonsense 0.00003244●●●●●●
154. 123539804 c.2132G>A p.R711H missense 0.00003147●●●●●●
155. 123539843 c.2093A>G p.N698S missense 0.00003124●●●●●●
156. 123539801 c.2135C>T p.P712L missense 0.00003056●●●●●●
157. 123539793 c.2143A>G p.S715G missense 0.00002863●●●●●●
158. 123759232 c.1027A>T p.T343S missense 0.00002786●●●●●●
159. 123539890 c.2051-5delC splice site 0.00002762●●●●●●
160. 123539826 c.2110T>A p.F704I missense 0.00002596●●●●●●
161. 123539751 c.2185C>T p.Q729X nonsense 0.00002546●●●●●●
162. 123687318 c.1283G>A p.R428Q missense 0.00002537●●●●●●
163. 123673675 c.1369+9A>G splice site 0.00002533●●●●●●
164. 123824903 c.754G>T p.D252Y missense 0.00002522●●●●●●
165. 123542661 c.2021C>A p.T674N missense 0.00002521●●●●●●
166. 123673692 c.1361T>C p.V454A missense 0.00002520●●●●●●
167. 123545256 c.1996G>A p.A666T missense 0.00002503●●●●●●
168. 123539822 c.2114C>T p.P705L missense 0.00002499●●●●●●
169. 123892248 c.52G>C p.D18H missense 0.00002487●●●●●●
170. 123892173 c.127A>G p.T43A missense 0.00002485●●●●●●
171. 123588849 c.1783+3A>G splice site 0.00002476●●●●●●
172. 123833449 c.609delA p.Glu204AsnfsTer19 frameshift 0.00002467●●●●●●
173. 123588852 c.1783G>A p.D595N missense 0.00002432●●●●●●
174. 123833453 c.605C>T p.A202V missense 0.00002405●●●●●●
175. 123824962 c.695A>C p.Q232P missense 0.00002288●●●●●●
176. 123588863 c.1772C>G p.S591C missense 0.00002259●●●●●●
177. 123709696 c.1106C>T p.A369V missense 0.00002233●●●●●●
178. 123573553 c.1975+4delA splice site 0.00002163●●●●●●
179. 123709672 c.1130A>G p.K377R missense 0.00002163●●●●●●
180. 123588873 c.1762G>A p.E588K missense 0.00002153●●●●●●
181. 123824951 c.706A>G p.K236E missense 0.00002138●●●●●●
182. 123786135 c.854-7T>C splice site 0.00002132●●●●●●
183. 123869706 c.284C>T p.A95V missense 0.00002077●●●●●●
184. 123869596 c.391+3A>G splice site 0.00002029●●●●●●
185. 123786080 c.902G>A p.R301K missense 0.00002027●●●●●●
186. 123539798 c.2138G>A p.G713E missense 0.00001990●●●●●●
187. 123786121 c.861C>A p.S287R missense 0.00001985●●●●●●
188. 123869680 c.310T>A p.Y104N missense 0.00001965●●●●●●
189. 123786117 c.865G>A p.A289T missense 0.00001954●●●●●●
190. 123824998 c.659A>G p.K220R missense 0.00001853●●●●●●
191. 123759275 c.992-8A>G splice site 0.00001811●●●●●●
192. 123595794 c.1589C>G p.A530G missense 0.00001794●●●●●●
193. 123590986 c.1738+8A>G splice site 0.00001776●●●●●●
194. 123591017 c.1721-6C>T splice site 0.00001762●●●●●●
195. 123687279 c.1321+1delG essential splice site 0.00001756●●●●●●
196. 123824996 c.661G>T p.E221X nonsense 0.00001725●●●●●●
197. 123539849 c.2087G>A p.G696E missense 0.00001701●●●●●●
198. 123539754 c.2182G>A p.G728R missense 0.00001701●●●●●●
199. 123600219 c.1519G>A p.V507I missense 0.00001693●●●●●●
200. 123824858 c.793+6C>T splice site 0.00001690●●●●●●
201. 123600201 c.1537C>A p.Q513K missense 0.00001685●●●●●●
202. 123673722 c.1331G>A p.G444E missense 0.00001682●●●●●●
203. 123869638 c.352G>T p.D118Y missense 0.00001680●●●●●●
204. 123687294 c.1307T>C p.V436A missense 0.00001677●●●●●●
205. 123892063 c.232+5G>C splice site 0.00001667●●●●●●
206. 123957907 c.14C>G p.T5S missense 0.00001666●●●●●●
207. 123957895 c.22+4T>C splice site 0.00001666●●●●●●
208. 123892211 c.89A>G p.K30R missense 0.00001657●●●●●●
209. 123892104 c.196G>T p.V66F missense 0.00001657●●●●●●
210. 123892127 c.173T>A p.I58N missense 0.00001657●●●●●●
211. 123892181 c.119T>C p.I40T missense 0.00001657●●●●●●
212. 123869633 c.357A>C p.E119D missense 0.00001649●●●●●●
213. 123869630 c.360_362delAGA p.Glu120del inframe 0.00001641●●●●●●
214. 123824992 c.665T>G p.V222G missense 0.00001621●●●●●●
215. 123759256 c.1003A>C p.I335L missense 0.00001576●●●●●●
216. 123539844 c.2092A>C p.N698H missense 0.00001576●●●●●●
217. 123869622 c.368_370delATG p.Asp123del inframe 0.00001571●●●●●●
218. 123714819 c.1055C>A p.P352Q missense 0.00001465●●●●●●
219. 123759201 c.1051+7C>A splice site 0.00001453●●●●●●
220. 123759240 c.1019A>G p.E340G missense 0.00001445●●●●●●
221. 123714814 c.1060A>G p.K354E missense 0.00001441●●●●●●
222. 123759207 c.1051+1G>T essential splice site 0.00001430●●●●●●
223. 123699003 c.1219+8T>A splice site 0.00001419●●●●●●
224. 123759216 c.1043A>G p.E348G missense 0.00001382●●●●●●
225. 123542629 c.2050+3A>C splice site 0.00001332●●●●●●
226. 123542674 c.2015-7C>T splice site 0.00001326●●●●●●
227. 123542672 c.2015-5A>G splice site 0.00001313●●●●●●
228. 123539827 c.2109G>T p.Q703H missense 0.00001301●●●●●●
229. 123542654 c.2028T>G p.D676E missense 0.00001225●●●●●●
230. 123824966 c.691A>G p.K231E missense 0.00001176●●●●●●
231. 123539814 c.2122C>T p.P708S missense 0.00001172●●●●●●
232. 123824950 c.707A>C p.K236T missense 0.00001069●●●●●●
233. 123539801 c.2135C>G p.P712R missense 0.00001019●●●●●●
234. 123824944 c.713A>G p.K238R missense 0.00000965●●●●●●
235. 123539787 c.2149G>T p.G717C missense 0.00000917●●●●●●
236. 123595780 c.1597+6A>G splice site 0.00000911●●●●●●
237. 123595822 c.1568-7C>T splice site 0.00000903●●●●●●
238. 123595795 c.1588G>A p.A530T missense 0.00000896●●●●●●
239. 123595801 c.1582A>G p.K528E missense 0.00000893●●●●●●
240. 123595803 c.1580A>G p.K527R missense 0.00000893●●●●●●
241. 123595806 c.1577T>C p.I526T missense 0.00000893●●●●●●
242. 123590997 c.1735A>G p.T579A missense 0.00000884●●●●●●
243. 123591015 c.1721-4A>T splice site 0.00000881●●●●●●
244. 123591018 c.1721-7T>C splice site 0.00000880●●●●●●
245. 123687278 c.1321+2T>C essential splice site 0.00000878●●●●●●
246. 123539776 c.2160T>G p.N720K missense 0.00000873●●●●●●
247. 123687330 c.1274-3C>G splice site 0.00000852●●●●●●
248. 123687322 c.1279G>C p.E427Q missense 0.00000848●●●●●●
249. 123600220 c.1518A>T p.E506D missense 0.00000847●●●●●●
250. 123600206 c.1532C>T p.P511L missense 0.00000843●●●●●●
251. 123673682 c.1369+2delT essential splice site 0.00000842●●●●●●
252. 123687303 c.1298T>C p.I433T missense 0.00000840●●●●●●
253. 123824867 c.790A>G p.K264E missense 0.00000840●●●●●●
254. 123824897 c.760G>A p.E254K missense 0.00000840●●●●●●
255. 123637644 c.1472-4C>T splice site 0.00000839●●●●●●
256. 123824895 c.762G>C p.E254D missense 0.00000839●●●●●●
257. 123637606 c.1506A>C p.K502N missense 0.00000839●●●●●●
258. 123892277 c.23G>C p.G8A missense 0.00000838●●●●●●
259. 123545233 c.2014+5G>A splice site 0.00000836●●●●●●
260. 123545243 c.2009C>T p.A670V missense 0.00000835●●●●●●
261. 123545282 c.1976-6C>G splice site 0.00000835●●●●●●
262. 123545250 c.2002A>C p.K668Q missense 0.00000835●●●●●●
263. 123545273 c.1979A>G p.D660G missense 0.00000835●●●●●●
264. 123545262 c.1990G>A p.V664I missense 0.00000834●●●●●●
265. 123892062 c.232+6T>G splice site 0.00000834●●●●●●
266. 123545263 c.1989T>A p.D663E missense 0.00000834●●●●●●
267. 123545264 c.1988A>G p.D663G missense 0.00000834●●●●●●
268. 123957913 c.8A>T p.E3V missense 0.00000833●●●●●●
269. 123957920 c.1A>G p.Met1? missense 0.00000833●●●●●●
270. 123892268 c.32C>T p.S11F missense 0.00000832●●●●●●
271. 123892079 c.221A>G p.K74R missense 0.00000830●●●●●●
272. 123892076 c.224A>T p.N75I missense 0.00000830●●●●●●
273. 123892220 c.80C>T p.S27F missense 0.00000829●●●●●●
274. 123698874 c.1233_1234dupGA p.Lys412ArgfsTer12 frameshift 0.00000829●●●●●●
275. 123892218 c.82C>T p.P28S missense 0.00000829●●●●●●
276. 123892220 c.80C>G p.S27C missense 0.00000829●●●●●●
277. 123698878 c.1229C>A p.P410Q missense 0.00000829●●●●●●
278. 123892249 c.51A>G p.I17M missense 0.00000829●●●●●●
279. 123698885 c.1222A>G p.K408E missense 0.00000829●●●●●●
280. 123698890 c.1220-3C>T splice site 0.00000829●●●●●●
281. 123892100 c.200T>C p.M67T missense 0.00000829●●●●●●
282. 123892243 c.57_58insTTTT p.Lys20PhefsTer2 frameshift 0.00000829●●●●●●
283. 123698894 c.1220-7G>C splice site 0.00000829●●●●●●
284. 123892124 c.176C>T p.T59M missense 0.00000828●●●●●●
285. 123892166 c.134G>A p.S45N missense 0.00000828●●●●●●
286. 123892182 c.118A>G p.I40V missense 0.00000828●●●●●●
287. 123892121 c.179G>T p.W60L missense 0.00000828●●●●●●
288. 123892184 c.116A>T p.D39V missense 0.00000828●●●●●●
289. 123892206 c.94_96delCTG p.Leu32del inframe 0.00000828●●●●●●
290. 123892196 c.104C>T p.T35I missense 0.00000828●●●●●●
291. 123892175 c.125C>G p.T42R missense 0.00000828●●●●●●
292. 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.