ELN missense variants in ExAC

ELN gene summary
ELN variants in

The table below lists the ELN 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. 73470714 c.1264G>A p.G422S missense 0.32623202●●●●●●
2. 73474825 c.1741G>C p.G581R missense 0.07118717●●●●●●
3. 73482987 c.2132G>A p.G711D missense 0.00287750●●●●●●
4. 73455561 c.212C>T p.A71V missense 0.00163907●●●●●●
5. 73459575 c.493G>T p.V165L missense 0.00162367●●●●●●
6. 73472000 c.1388A>G p.K463R missense 0.00145397●●●●●●
7. 73466256 c.892G>A p.V298I missense 0.00121403●●●●●●
8. 73466295 c.931G>A p.A311T missense 0.00115444●●●●●●
9. 73477524 c.1828G>A p.G610S missense 0.00112752●●●●●●
10. 73456970 c.259T>C p.F87L missense 0.00103993●●●●●●
11. 73470729 c.1279C>G p.P427A missense 0.00102959●●●●●●
12. 73474308 c.1507G>A p.V503M missense 0.00056841●●●●●●
13. 73470682 c.1232T>G p.V411G missense 0.00052714●●●●●●
14. 73456989 c.278C>T p.P93L missense 0.00051187●●●●●●
15. 73457316 c.328G>A p.A110T missense 0.00051093●●●●●●
16. 73480029 c.1999C>T p.P667S missense 0.00043690●●●●●●
17. 73457314 c.326G>A p.G109D missense 0.00039557●●●●●●
18. 73477642 c.1861G>A p.A621T missense 0.00037222●●●●●●
19. 73462008 c.647G>T p.G216V missense 0.00028005●●●●●●
20. 73480301 c.2060G>A p.G687E missense 0.00024715●●●●●●
21. 73466166 c.886G>A p.A296T missense 0.00022288●●●●●●
22. 73458241 c.460G>A p.V154M missense 0.00019387●●●●●●
23. 73477666 c.1885G>A p.A629T missense 0.00016620●●●●●●
24. 73474781 c.1697C>T p.A566V missense 0.00016479●●●●●●
25. 73477521 c.1825C>T p.L609F missense 0.00015461●●●●●●
26. 73470721 c.1271G>A p.G424E missense 0.00014826●●●●●●
27. 73467535 c.992C>T p.P331L missense 0.00014024●●●●●●
28. 73477657 c.1876G>A p.A626T missense 0.00010904●●●●●●
29. 73466143 c.863C>G p.A288G missense 0.00010735●●●●●●
30. 73474759 c.1675G>A p.V559I missense 0.00010710●●●●●●
31. 73471025 c.1339G>A p.A447T missense 0.00009135●●●●●●
32. 73459555 c.473C>T p.A158V missense 0.00009130●●●●●●
33. 73471008 c.1322C>T p.A441V missense 0.00009113●●●●●●
34. 73442551 c.34G>A p.G12R missense 0.00007664●●●●●●
35. 73462020 c.659C>T p.P220L missense 0.00007413●●●●●●
36. 73474338 c.1537G>A p.V513I missense 0.00007413●●●●●●
37. 73442537 c.20C>T p.A7V missense 0.00006718●●●●●●
38. 73472008 c.1396G>A p.A466T missense 0.00006682●●●●●●
39. 73462886 c.799G>A p.G267S missense 0.00006642●●●●●●
40. 73466133 c.853G>A p.V285M missense 0.00006609●●●●●●
41. 73480298 c.2057T>C p.L686P missense 0.00006591●●●●●●
42. 73474344 c.1543G>A p.V515M missense 0.00006589●●●●●●
43. 73470687 c.1237G>A p.G413S missense 0.00006589●●●●●●
44. 73442591 c.74G>A p.R25Q missense 0.00006321●●●●●●
45. 73472017 c.1405G>A p.A469T missense 0.00005852●●●●●●
46. 73477690 c.1909G>A p.A637T missense 0.00005807●●●●●●
47. 73450896 c.145G>A p.G49R missense 0.00005800●●●●●●
48. 73462860 c.773C>T p.A258V missense 0.00005769●●●●●●
49. 73474484 c.1591G>T p.A531S missense 0.00005766●●●●●●
50. 73474485 c.1592C>T p.A531V missense 0.00005766●●●●●●
51. 73442543 c.26C>T p.P9L missense 0.00005734●●●●●●
52. 73477651 c.1870G>A p.A624T missense 0.00005567●●●●●●
53. 73477660 c.1879G>A p.A627T missense 0.00005549●●●●●●
54. 73449738 c.127T>C p.Y43H missense 0.00004983●●●●●●
55. 73471034 c.1348G>A p.A450T missense 0.00004981●●●●●●
56. 73470612 c.1162G>A p.G388R missense 0.00004950●●●●●●
57. 73481062 c.2087G>C p.G696A missense 0.00004949●●●●●●
58. 73480062 c.2032G>A p.G678S missense 0.00004946●●●●●●
59. 73474484 c.1591G>A p.A531T missense 0.00004943●●●●●●
60. 73457466 c.395C>T p.P132L missense 0.00004522●●●●●●
61. 73466278 c.914C>T p.A305V missense 0.00004328●●●●●●
62. 73471982 c.1370C>T p.P457L missense 0.00004173●●●●●●
63. 73459560 c.478T>C p.F160L missense 0.00004147●●●●●●
64. 73459566 c.484G>A p.G162S missense 0.00004145●●●●●●
65. 73471012 c.1326G>C p.Q442H missense 0.00004145●●●●●●
66. 73480050 c.2020G>A p.A674T missense 0.00004121●●●●●●
67. 73483017 c.2162G>A p.R721Q missense 0.00004120●●●●●●
68. 73480292 c.2051G>A p.G684D missense 0.00004119●●●●●●
69. 73474374 c.1573G>A p.A525T missense 0.00004118●●●●●●
70. 73470666 c.1216G>A p.G406S missense 0.00004118●●●●●●
71. 73455551 c.202G>A p.G68R missense 0.00004118●●●●●●
72. 73442578 c.61C>T p.L21F missense 0.00004040●●●●●●
73. 73477545 c.1849G>A p.G617S missense 0.00003807●●●●●●
74. 73457474 c.403G>A p.G135R missense 0.00003754●●●●●●
75. 73477515 c.1819G>C p.G607R missense 0.00003620●●●●●●
76. 73471043 c.1357G>A p.G453R missense 0.00003322●●●●●●
77. 73466265 c.901C>G p.P301A missense 0.00003315●●●●●●
78. 73466094 c.814G>A p.G272R missense 0.00003312●●●●●●
79. 73467586 c.1043G>A p.G348E missense 0.00003304●●●●●●
80. 73456974 c.263C>T p.P88L missense 0.00003302●●●●●●
81. 73467564 c.1021G>A p.V341I missense 0.00003301●●●●●●
82. 73462477 c.691G>A p.G231R missense 0.00003299●●●●●●
83. 73477983 c.1951G>A p.G651R missense 0.00003296●●●●●●
84. 73457316 c.328G>T p.A110S missense 0.00003296●●●●●●
85. 73462854 c.767C>T p.A256V missense 0.00003296●●●●●●
86. 73469099 c.1150G>A p.G384R missense 0.00003295●●●●●●
87. 73480309 c.2068G>A p.G690R missense 0.00003295●●●●●●
88. 73477978 c.1946G>C p.G649A missense 0.00003295●●●●●●
89. 73470684 c.1234G>A p.G412R missense 0.00003295●●●●●●
90. 73470720 c.1270G>A p.G424R missense 0.00003295●●●●●●
91. 73457487 c.416G>A p.G139E missense 0.00002948●●●●●●
92. 73457451 c.380C>T p.A127V missense 0.00002922●●●●●●
93. 73442552 c.35G>T p.G12V missense 0.00002875●●●●●●
94. 73442522 c.5C>T p.A2V missense 0.00002846●●●●●●
95. 73457480 c.409A>C p.K137Q missense 0.00002702●●●●●●
96. 73471985 c.1373C>A p.A458E missense 0.00002506●●●●●●
97. 73466080 c.800G>A p.G267D missense 0.00002490●●●●●●
98. 73466082 c.802G>A p.A268T missense 0.00002488●●●●●●
99. 73449724 c.113C>G p.P38R missense 0.00002488●●●●●●
100. 73477543 c.1847G>A p.G616D missense 0.00002484●●●●●●
101. 73467606 c.1063C>G p.P355A missense 0.00002483●●●●●●
102. 73461047 c.593C>T p.P198L missense 0.00002479●●●●●●
103. 73461046 c.592C>T p.P198S missense 0.00002479●●●●●●
104. 73481079 c.2104G>C p.G702R missense 0.00002476●●●●●●
105. 73470642 c.1192G>C p.G398R missense 0.00002472●●●●●●
106. 73470652 c.1202C>T p.A401V missense 0.00002471●●●●●●
107. 73474724 c.1640G>A p.G547D missense 0.00002471●●●●●●
108. 73470738 c.1288G>A p.G430R missense 0.00002471●●●●●●
109. 73480318 c.2077C>T p.P693S missense 0.00002471●●●●●●
110. 73474353 c.1552G>A p.G518S missense 0.00002471●●●●●●
111. 73474233 c.1432G>A p.G478S missense 0.00002471●●●●●●
112. 73442522 c.5C>A p.A2E missense 0.00001897●●●●●●
113. 73466275 c.911C>G p.A304G missense 0.00001711●●●●●●
114. 73458224 c.443G>A p.G148D missense 0.00001688●●●●●●
115. 73467631 c.1088C>T p.A363V missense 0.00001665●●●●●●
116. 73449703 c.92G>A p.G31E missense 0.00001660●●●●●●
117. 73459552 c.470G>A p.G157E missense 0.00001660●●●●●●
118. 73449715 c.104G>C p.G35A missense 0.00001658●●●●●●
119. 73466085 c.805G>A p.G269R missense 0.00001658●●●●●●
120. 73471004 c.1318G>A p.E440K missense 0.00001657●●●●●●
121. 73466110 c.830T>C p.V277A missense 0.00001654●●●●●●
122. 73467591 c.1048G>T p.G350W missense 0.00001653●●●●●●
123. 73466257 c.893T>C p.V298A missense 0.00001652●●●●●●
124. 73461044 c.590G>A p.G197E missense 0.00001652●●●●●●
125. 73466139 c.859G>A p.G287R missense 0.00001652●●●●●●
126. 73456949 c.238G>A p.G80S missense 0.00001652●●●●●●
127. 73456961 c.250G>A p.A84T missense 0.00001651●●●●●●
128. 73467571 c.1028G>A p.G343D missense 0.00001651●●●●●●
129. 73462484 c.698G>C p.G233A missense 0.00001650●●●●●●
130. 73467541 c.998T>A p.V333E missense 0.00001650●●●●●●
131. 73462483 c.697G>A p.G233R missense 0.00001650●●●●●●
132. 73475439 c.1756G>T p.A586S missense 0.00001650●●●●●●
133. 73475464 c.1781A>G p.K594R missense 0.00001649●●●●●●
134. 73477978 c.1946G>A p.G649E missense 0.00001648●●●●●●
135. 73460530 c.554C>G p.A185G missense 0.00001648●●●●●●
136. 73474269 c.1468G>A p.G490S missense 0.00001648●●●●●●
137. 73460520 c.544G>A p.V182I missense 0.00001648●●●●●●
138. 73474302 c.1501G>A p.V501I missense 0.00001648●●●●●●
139. 73470642 c.1192G>T p.G398W missense 0.00001648●●●●●●
140. 73474798 c.1714G>A p.G572R missense 0.00001648●●●●●●
141. 73480307 c.2066C>T p.A689V missense 0.00001648●●●●●●
142. 73460524 c.548G>A p.G183D missense 0.00001648●●●●●●
143. 73474485 c.1592C>A p.A531D missense 0.00001648●●●●●●
144. 73474813 c.1729G>A p.V577I missense 0.00001648●●●●●●
145. 73470754 c.1304T>C p.V435A missense 0.00001647●●●●●●
146. 73470748 c.1298C>T p.P433L missense 0.00001647●●●●●●
147. 73470702 c.1252G>A p.A418T missense 0.00001647●●●●●●
148. 73457487 c.416G>C p.G139A missense 0.00001474●●●●●●
149. 73477539 c.1843C>G p.P615A missense 0.00001223●●●●●●
150. 73477515 c.1819G>A p.G607R missense 0.00001207●●●●●●
151. 73442590 c.73C>T p.R25W missense 0.00001048●●●●●●
152. 73442585 c.68C>A p.P23H missense 0.00001029●●●●●●
153. 73442581 c.64C>T p.H22Y missense 0.00001011●●●●●●
154. 73452049 c.176G>T p.G59V missense 0.00001010●●●●●●
155. 73452049 c.176G>C p.G59A missense 0.00001010●●●●●●
156. 73442554 c.37G>A p.V13I missense 0.00000959●●●●●●
157. 73442552 c.35G>A p.G12E missense 0.00000958●●●●●●
158. 73442549 c.32C>T p.P11L missense 0.00000957●●●●●●
159. 73442548 c.31C>T p.P11S missense 0.00000957●●●●●●
160. 73442543 c.26C>G p.P9R missense 0.00000956●●●●●●
161. 73442545 c.28C>T p.R10W missense 0.00000956●●●●●●
162. 73442534 c.17C>T p.A6V missense 0.00000954●●●●●●
163. 73442531 c.14C>T p.T5M missense 0.00000951●●●●●●
164. 73466281 c.917C>G p.A306G missense 0.00000861●●●●●●
165. 73458235 c.454G>A p.G152S missense 0.00000842●●●●●●
166. 73471997 c.1385C>A p.A462D missense 0.00000837●●●●●●
167. 73472022 c.1410G>C p.Q470H missense 0.00000836●●●●●●
168. 73472018 c.1406C>T p.A469V missense 0.00000836●●●●●●
169. 73472009 c.1397C>T p.A466V missense 0.00000835●●●●●●
170. 73457036 c.325G>A p.G109S missense 0.00000834●●●●●●
171. 73471975 c.1363G>A p.G455R missense 0.00000834●●●●●●
172. 73457006 c.295G>A p.A99T missense 0.00000834●●●●●●
173. 73457033 c.322G>A p.A108T missense 0.00000832●●●●●●
174. 73462501 c.715G>A p.A239T missense 0.00000831●●●●●●
175. 73461097 c.643G>A p.G215S missense 0.00000831●●●●●●
176. 73449706 c.95C>A p.A32D missense 0.00000830●●●●●●
177. 73471026 c.1340C>T p.A447V missense 0.00000830●●●●●●
178. 73449730 c.119G>T p.G40V missense 0.00000830●●●●●●
179. 73471031 c.1345G>A p.A449T missense 0.00000830●●●●●●
180. 73449705 c.94G>A p.A32T missense 0.00000830●●●●●●
181. 73467630 c.1087G>A p.A363T missense 0.00000830●●●●●●
182. 73459558 c.476G>A p.R159Q missense 0.00000830●●●●●●
183. 73459609 c.527A>C p.K176T missense 0.00000829●●●●●●
184. 73481103 c.2128C>G p.P710A missense 0.00000829●●●●●●
185. 73471007 c.1321G>A p.A441T missense 0.00000829●●●●●●
186. 73449720 c.109G>A p.V37I missense 0.00000829●●●●●●
187. 73450893 c.142C>A p.L48I missense 0.00000829●●●●●●
188. 73459567 c.485G>C p.G162A missense 0.00000829●●●●●●
189. 73481103 c.2128C>A p.P710T missense 0.00000829●●●●●●
190. 73449715 c.104G>A p.G35D missense 0.00000829●●●●●●
191. 73462882 c.795G>T p.K265N missense 0.00000829●●●●●●
192. 73481101 c.2126T>C p.F709S missense 0.00000828●●●●●●
193. 73471002 c.1316C>T p.P439L missense 0.00000828●●●●●●
194. 73466092 c.812C>A p.A271D missense 0.00000828●●●●●●
195. 73459588 c.506T>C p.V169A missense 0.00000828●●●●●●
196. 73467604 c.1061T>C p.V354A missense 0.00000827●●●●●●
197. 73456995 c.284G>C p.G95A missense 0.00000827●●●●●●
198. 73466106 c.826G>A p.G276S missense 0.00000827●●●●●●
199. 73481090 c.2115G>T p.L705F missense 0.00000827●●●●●●
200. 73462531 c.745G>A p.G249R missense 0.00000826●●●●●●
201. 73466158 c.878G>A p.G293E missense 0.00000826●●●●●●
202. 73456989 c.278C>G p.P93R missense 0.00000826●●●●●●
203. 73470603 c.1153G>T p.A385S missense 0.00000826●●●●●●
204. 73481082 c.2107T>G p.F703V missense 0.00000826●●●●●●
205. 73466136 c.856C>T p.P286S missense 0.00000826●●●●●●
206. 73462874 c.787G>A p.A263T missense 0.00000826●●●●●●
207. 73481085 c.2110G>A p.G704R missense 0.00000826●●●●●●
208. 73462528 c.742A>T p.T248S missense 0.00000826●●●●●●
209. 73467553 c.1010C>G p.P337R missense 0.00000825●●●●●●
210. 73462871 c.784G>A p.A262T missense 0.00000825●●●●●●
211. 73467496 c.953C>G p.A318G missense 0.00000825●●●●●●
212. 73467495 c.952G>T p.A318S missense 0.00000825●●●●●●
213. 73467570 c.1027G>C p.G343R missense 0.00000825●●●●●●
214. 73462484 c.698G>A p.G233E missense 0.00000825●●●●●●
215. 73475452 c.1769C>T p.A590V missense 0.00000825●●●●●●
216. 73470621 c.1171G>A p.V391I missense 0.00000825●●●●●●
217. 73467496 c.953C>T p.A318V missense 0.00000825●●●●●●
218. 73456985 c.274G>C p.V92L missense 0.00000825●●●●●●
219. 73466167 c.887C>T p.A296V missense 0.00000825●●●●●●
220. 73477998 c.1966G>A p.G656R missense 0.00000824●●●●●●
221. 73474514 c.1621C>G p.R541G missense 0.00000824●●●●●●
222. 73457341 c.353T>C p.V118A missense 0.00000824●●●●●●
223. 73462847 c.760G>A p.A254T missense 0.00000824●●●●●●
224. 73483014 c.2159G>T p.G720V missense 0.00000824●●●●●●
225. 73474275 c.1474G>C p.A492P missense 0.00000824●●●●●●
226. 73477965 c.1933G>T p.A645S missense 0.00000824●●●●●●
227. 73470687 c.1237G>C p.G413R missense 0.00000824●●●●●●
228. 73474804 c.1720G>A p.G574S missense 0.00000824●●●●●●
229. 73474824 c.1740C>A p.F580L missense 0.00000824●●●●●●
230. 73470622 c.1172T>G p.V391G missense 0.00000824●●●●●●
231. 73455566 c.217G>A p.A73T missense 0.00000824●●●●●●
232. 73474362 c.1561C>T p.P521S missense 0.00000824●●●●●●
233. 73474329 c.1528G>T p.A510S missense 0.00000824●●●●●●
234. 73457326 c.338G>A p.G113D missense 0.00000824●●●●●●
235. 73474227 c.1426G>A p.G476S missense 0.00000824●●●●●●
236. 73455564 c.215G>A p.G72D missense 0.00000824●●●●●●
237. 73477986 c.1954G>A p.V652I missense 0.00000824●●●●●●
238. 73462839 c.752G>A p.G251D missense 0.00000824●●●●●●
239. 73478017 c.1985G>T p.G662V missense 0.00000824●●●●●●
240. 73470657 c.1207G>A p.G403S missense 0.00000824●●●●●●
241. 73474724 c.1640G>C p.G547A missense 0.00000824●●●●●●
242. 73483016 c.2161C>T p.R721W missense 0.00000824●●●●●●
243. 73477965 c.1933G>A p.A645T missense 0.00000824●●●●●●
244. 73470708 c.1258G>A p.V420I missense 0.00000824●●●●●●
245. 73470642 c.1192G>A p.G398R missense 0.00000824●●●●●●
246. 73477975 c.1943G>A p.G648E missense 0.00000824●●●●●●
247. 73470619 c.1169G>A p.G390E missense 0.00000824●●●●●●
248. 73474342 c.1541G>A p.G514D missense 0.00000824●●●●●●
249. 73457331 c.343G>A p.V115I missense 0.00000824●●●●●●
250. 73474282 c.1481G>C p.G494A missense 0.00000824●●●●●●
251. 73470618 c.1168G>A p.G390R missense 0.00000824●●●●●●
252. 73474242 c.1441C>G p.P481A missense 0.00000824●●●●●●
253. 73477989 c.1957G>A p.G653R missense 0.00000824●●●●●●
254. 73462850 c.763G>A p.A255T missense 0.00000824●●●●●●
255. 73474805 c.1721G>T p.G574V missense 0.00000824●●●●●●
256. 73474756 c.1672G>A p.G558S missense 0.00000824●●●●●●
257. 73474309 c.1508T>C p.V503A missense 0.00000824●●●●●●
258. 73455569 c.220G>A p.G74S missense 0.00000824●●●●●●
259. 73469069 c.1120G>A p.A374T missense 0.00000824●●●●●●
260. 73477974 c.1942G>A p.G648R missense 0.00000824●●●●●●
261. 73470753 c.1303G>C p.V435L missense 0.00000824●●●●●●
262. 73474499 c.1606G>T p.A536S missense 0.00000824●●●●●●
263. 73470645 c.1195G>A p.V399I missense 0.00000824●●●●●●
264. 73457340 c.352G>T p.V118F missense 0.00000824●●●●●●
265. 73474227 c.1426G>C p.G476R missense 0.00000824●●●●●●
266. 73470702 c.1252G>C p.A418P missense 0.00000824●●●●●●
267. 73482992 c.2137G>A p.A713T missense 0.00000824●●●●●●
268. 73474266 c.1465G>A p.V489I missense 0.00000824●●●●●●
269. 73470732 c.1282G>A p.G428R missense 0.00000824●●●●●●
270. 73480294 c.2053G>A p.V685I missense 0.00000824●●●●●●
271. 73470673 c.1223G>C p.G408A missense 0.00000824●●●●●●
272. 73462833 c.746G>C p.G249A missense 0.00000824●●●●●●
273. 73474801 c.1717G>A p.V573I missense 0.00000824●●●●●●
274. 73469094 c.1145A>G p.K382R missense 0.00000824●●●●●●
275. 73455558 c.209T>C p.L70P missense 0.00000824●●●●●●
276. 73474350 c.1549C>T p.P517S missense 0.00000824●●●●●●
277. 73474324 c.1523G>A p.G508D missense 0.00000824●●●●●●
278. 73457320 c.332G>A p.G111E 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.