EPHX2 missense variants in ExAC

EPHX2 gene summary
EPHX2 variants in

The table below lists the EPHX2 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. 27373865 c.860G>A p.R287Q missense 0.11532251●●●●●●
2. 27358505 c.164A>G p.K55R missense 0.09007990●●●●●●
3. 27361241 c.307C>T p.R103C missense 0.01424348●●●●●●
4. 27358495 c.154C>T p.R52W missense 0.01203378●●●●●●
5. 27358496 c.155G>A p.R52Q missense 0.00499868●●●●●●
6. 27362587 c.461G>A p.C154Y missense 0.00369470●●●●●●
7. 27382901 c.1081C>T p.P361S missense 0.00191912●●●●●●
8. 27369366 c.674C>T p.P225L missense 0.00134254●●●●●●
9. 27361200 c.266A>G p.K89R missense 0.00113972●●●●●●
10. 27399019 c.1409A>G p.E470G missense 0.00112028●●●●●●
11. 27362515 c.389G>A p.R130H missense 0.00106589●●●●●●
12. 27398092 c.1298C>T p.P433L missense 0.00098892●●●●●●
13. 27402022 c.1651G>T p.V551L missense 0.00077456●●●●●●
14. 27399031 c.1421A>C p.K474T missense 0.00039540●●●●●●
15. 27382945 c.1125C>G p.I375M missense 0.00031299●●●●●●
16. 27394367 c.1237G>A p.D413N missense 0.00026410●●●●●●
17. 27361148 c.214A>G p.R72G missense 0.00025983●●●●●●
18. 27382949 c.1129G>A p.A377T missense 0.00025533●●●●●●
19. 27402020 c.1649C>T p.P550L missense 0.00023894●●●●●●
20. 27362514 c.388C>T p.R130C missense 0.00023137●●●●●●
21. 27402007 c.1636G>C p.A546P missense 0.00021421●●●●●●
22. 27348787 c.62G>C p.G21A missense 0.00019139●●●●●●
23. 27362613 c.487C>T p.P163S missense 0.00019039●●●●●●
24. 27362592 c.466G>A p.V156M missense 0.00019010●●●●●●
25. 27398094 c.1300G>A p.E434K missense 0.00015657●●●●●●
26. 27399010 c.1400G>A p.R467Q missense 0.00015651●●●●●●
27. 27373245 c.746G>A p.R249H missense 0.00015019●●●●●●
28. 27398118 c.1324G>C p.V442L missense 0.00014836●●●●●●
29. 27401294 c.1478C>A p.A493E missense 0.00013189●●●●●●
30. 27394350 c.1220G>T p.S407I missense 0.00013186●●●●●●
31. 27364416 c.565A>G p.N189D missense 0.00013182●●●●●●
32. 27373864 c.859C>T p.R287W missense 0.00011533●●●●●●
33. 27382974 c.1154T>C p.L385P missense 0.00011532●●●●●●
34. 27394330 c.1200C>A p.N400K missense 0.00009085●●●●●●
35. 27398073 c.1279G>A p.G427R missense 0.00008240●●●●●●
36. 27362623 c.497A>G p.Y166C missense 0.00007462●●●●●●
37. 27362611 c.485A>C p.E162A missense 0.00007449●●●●●●
38. 27401314 c.1498G>A p.V500I missense 0.00007419●●●●●●
39. 27373915 c.910G>A p.E304K missense 0.00007414●●●●●●
40. 27373244 c.745C>T p.R249C missense 0.00006683●●●●●●
41. 27401325 c.1509G>A p.M503I missense 0.00006595●●●●●●
42. 27380001 c.1034C>T p.A345V missense 0.00005790●●●●●●
43. 27398138 c.1344G>C p.Q448H missense 0.00004950●●●●●●
44. 27398085 c.1291A>G p.N431D missense 0.00004944●●●●●●
45. 27398994 c.1384C>G p.P462A missense 0.00004943●●●●●●
46. 27378418 c.964G>A p.D322N missense 0.00004942●●●●●●
47. 27361160 c.226G>A p.E76K missense 0.00004690●●●●●●
48. 27361166 c.232G>A p.A78T missense 0.00004536●●●●●●
49. 27361121 c.187T>C p.W63R missense 0.00004348●●●●●●
50. 27373304 c.805G>A p.E269K missense 0.00004133●●●●●●
51. 27373274 c.775C>T p.P259S missense 0.00004132●●●●●●
52. 27364503 c.652G>A p.G218R missense 0.00004128●●●●●●
53. 27364389 c.538G>A p.V180I missense 0.00004124●●●●●●
54. 27401294 c.1478C>T p.A493V missense 0.00004122●●●●●●
55. 27373864 c.859C>G p.R287G missense 0.00004119●●●●●●
56. 27401968 c.1597G>A p.E533K missense 0.00004119●●●●●●
57. 27401709 c.1537C>T p.H513Y missense 0.00004118●●●●●●
58. 27369413 c.721T>C p.Y241H missense 0.00004118●●●●●●
59. 27380015 c.1048G>A p.E350K missense 0.00003323●●●●●●
60. 27401276 c.1460C>T p.P487L missense 0.00003301●●●●●●
61. 27401344 c.1528T>G p.W510G missense 0.00003300●●●●●●
62. 27382925 c.1105A>G p.M369V missense 0.00003295●●●●●●
63. 27399054 c.1444C>T p.R482W missense 0.00003295●●●●●●
64. 27369416 c.724G>A p.V242M missense 0.00003295●●●●●●
65. 27401737 c.1565G>A p.C522Y missense 0.00003295●●●●●●
66. 27373897 c.892G>A p.E298K missense 0.00003295●●●●●●
67. 27364431 c.580C>T p.R194C missense 0.00003295●●●●●●
68. 27361194 c.260C>T p.S87F missense 0.00002530●●●●●●
69. 27361242 c.308G>A p.R103H missense 0.00002492●●●●●●
70. 27373271 c.772G>A p.G258S missense 0.00002480●●●●●●
71. 27373277 c.778G>T p.A260S missense 0.00002479●●●●●●
72. 27364488 c.637C>G p.L213V missense 0.00002473●●●●●●
73. 27394350 c.1220G>A p.S407N missense 0.00002472●●●●●●
74. 27398109 c.1315A>C p.S439R missense 0.00002472●●●●●●
75. 27399012 c.1402A>C p.N468H missense 0.00002471●●●●●●
76. 27348726 c.1A>G p.Met1? missense 0.00002451●●●●●●
77. 27361135 c.201G>T p.M67I missense 0.00002386●●●●●●
78. 27348730 c.5C>T p.T2M missense 0.00002341●●●●●●
79. 27348802 c.77C>T p.T26M missense 0.00002133●●●●●●
80. 27348739 c.14C>A p.A5E missense 0.00002116●●●●●●
81. 27361154 c.220T>C p.C74R missense 0.00001992●●●●●●
82. 27348792 c.67C>T p.L23F missense 0.00001988●●●●●●
83. 27348744 c.19G>T p.V7F missense 0.00001956●●●●●●
84. 27348745 c.20T>G p.V7G missense 0.00001925●●●●●●
85. 27348749 c.24C>A p.F8L missense 0.00001872●●●●●●
86. 27348756 c.31G>A p.D11N missense 0.00001786●●●●●●
87. 27348758 c.33C>G p.D11E missense 0.00001777●●●●●●
88. 27361179 c.245T>A p.L82H missense 0.00001731●●●●●●
89. 27362653 c.527G>T p.S176I missense 0.00001682●●●●●●
90. 27361218 c.284C>T p.A95V missense 0.00001664●●●●●●
91. 27361221 c.287T>A p.I96N missense 0.00001662●●●●●●
92. 27379952 c.985G>A p.A329T missense 0.00001657●●●●●●
93. 27396177 c.1244G>C p.S415T missense 0.00001655●●●●●●
94. 27373308 c.809G>A p.S270N missense 0.00001654●●●●●●
95. 27362595 c.469G>C p.G157R missense 0.00001654●●●●●●
96. 27362522 c.396G>C p.E132D missense 0.00001652●●●●●●
97. 27362577 c.451A>T p.I151L missense 0.00001652●●●●●●
98. 27379991 c.1024T>C p.W342R missense 0.00001652●●●●●●
99. 27373295 c.796G>A p.G266R missense 0.00001652●●●●●●
100. 27362521 c.395A>T p.E132V missense 0.00001652●●●●●●
101. 27394329 c.1199A>G p.N400S missense 0.00001652●●●●●●
102. 27396186 c.1253C>A p.S418Y missense 0.00001651●●●●●●
103. 27358448 c.107T>C p.L36P missense 0.00001651●●●●●●
104. 27362560 c.434T>G p.M145R missense 0.00001651●●●●●●
105. 27401339 c.1523A>C p.E508A missense 0.00001650●●●●●●
106. 27396207 c.1274C>T p.A425V missense 0.00001649●●●●●●
107. 27401291 c.1475C>T p.T492M missense 0.00001649●●●●●●
108. 27401332 c.1516C>A p.H506N missense 0.00001649●●●●●●
109. 27401281 c.1465C>G p.L489V missense 0.00001649●●●●●●
110. 27394338 c.1208G>A p.R403Q missense 0.00001648●●●●●●
111. 27364410 c.559G>A p.G187R missense 0.00001648●●●●●●
112. 27402011 c.1640G>A p.R547Q missense 0.00001648●●●●●●
113. 27402013 c.1642A>G p.N548D missense 0.00001648●●●●●●
114. 27364429 c.578C>G p.A193G missense 0.00001648●●●●●●
115. 27394337 c.1207C>T p.R403W missense 0.00001648●●●●●●
116. 27401736 c.1564T>C p.C522R missense 0.00001647●●●●●●
117. 27369357 c.665T>C p.L222P missense 0.00001647●●●●●●
118. 27382907 c.1087A>G p.I363V missense 0.00001647●●●●●●
119. 27369363 c.671C>T p.T224I missense 0.00001647●●●●●●
120. 27361126 c.192A>G p.I64M missense 0.00001346●●●●●●
121. 27361149 c.215G>T p.R72M missense 0.00001030●●●●●●
122. 27361162 c.228G>T p.E76D missense 0.00000926●●●●●●
123. 27361178 c.244C>G p.L82V missense 0.00000867●●●●●●
124. 27361182 c.248C>T p.P83L missense 0.00000860●●●●●●
125. 27375584 c.940T>G p.C314G missense 0.00000852●●●●●●
126. 27375584 c.940T>C p.C314R missense 0.00000852●●●●●●
127. 27361192 c.258C>A p.F86L missense 0.00000845●●●●●●
128. 27373236 c.737C>A p.P246H missense 0.00000843●●●●●●
129. 27362652 c.526A>C p.S176R missense 0.00000841●●●●●●
130. 27373241 c.742G>T p.V248F missense 0.00000838●●●●●●
131. 27362649 c.523G>A p.A175T missense 0.00000837●●●●●●
132. 27361203 c.269A>C p.E90A missense 0.00000836●●●●●●
133. 27362646 c.520A>C p.K174Q missense 0.00000835●●●●●●
134. 27361276 c.342G>T p.K114N missense 0.00000835●●●●●●
135. 27361279 c.345A>T p.K115N missense 0.00000835●●●●●●
136. 27361267 c.333G>C p.M111I missense 0.00000833●●●●●●
137. 27379943 c.976C>G p.L326V missense 0.00000832●●●●●●
138. 27362638 c.512A>T p.D171V missense 0.00000832●●●●●●
139. 27361244 c.310C>T p.P104S missense 0.00000831●●●●●●
140. 27362626 c.500A>G p.K167R missense 0.00000830●●●●●●
141. 27380010 c.1043A>G p.Y348C missense 0.00000829●●●●●●
142. 27373309 c.810T>A p.S270R missense 0.00000828●●●●●●
143. 27373312 c.813G>T p.W271C missense 0.00000828●●●●●●
144. 27380003 c.1036C>G p.L346V missense 0.00000828●●●●●●
145. 27362592 c.466G>C p.V156L missense 0.00000827●●●●●●
146. 27379961 c.994A>G p.I332V missense 0.00000827●●●●●●
147. 27362508 c.382G>T p.D128Y missense 0.00000827●●●●●●
148. 27362607 c.481C>T p.P161S missense 0.00000827●●●●●●
149. 27362511 c.385G>A p.D129N missense 0.00000827●●●●●●
150. 27373269 c.770C>A p.S257Y missense 0.00000827●●●●●●
151. 27379961 c.994A>T p.I332F missense 0.00000827●●●●●●
152. 27373307 c.808A>T p.S270C missense 0.00000827●●●●●●
153. 27379972 c.1005C>A p.D335E missense 0.00000826●●●●●●
154. 27373299 c.800T>C p.F267S missense 0.00000826●●●●●●
155. 27358511 c.170A>C p.E57A missense 0.00000826●●●●●●
156. 27396185 c.1252T>G p.S418A missense 0.00000826●●●●●●
157. 27362578 c.452T>C p.I151T missense 0.00000826●●●●●●
158. 27362526 c.400G>C p.D134H missense 0.00000826●●●●●●
159. 27379971 c.1004A>G p.D335G missense 0.00000826●●●●●●
160. 27362532 c.406C>G p.L136V missense 0.00000826●●●●●●
161. 27379977 c.1010G>T p.G337V missense 0.00000826●●●●●●
162. 27358517 c.176C>A p.T59K missense 0.00000826●●●●●●
163. 27362515 c.389G>C p.R130P missense 0.00000826●●●●●●
164. 27358510 c.169G>A p.E57K missense 0.00000826●●●●●●
165. 27401266 c.1450A>G p.I484V missense 0.00000826●●●●●●
166. 27362584 c.458C>T p.S153L missense 0.00000826●●●●●●
167. 27379988 c.1021G>A p.V341M missense 0.00000826●●●●●●
168. 27362546 c.420G>T p.M140I missense 0.00000825●●●●●●
169. 27396198 c.1265T>C p.V422A missense 0.00000825●●●●●●
170. 27398128 c.1334A>G p.E445G missense 0.00000825●●●●●●
171. 27358490 c.149C>T p.T50I missense 0.00000825●●●●●●
172. 27362546 c.420G>A p.M140I missense 0.00000825●●●●●●
173. 27401276 c.1460C>A p.P487Q missense 0.00000825●●●●●●
174. 27358502 c.161T>A p.M54K missense 0.00000825●●●●●●
175. 27358456 c.115G>C p.D39H missense 0.00000825●●●●●●
176. 27398138 c.1344G>T p.Q448H missense 0.00000825●●●●●●
177. 27396192 c.1259A>G p.H420R missense 0.00000825●●●●●●
178. 27401333 c.1517A>G p.H506R missense 0.00000825●●●●●●
179. 27398143 c.1349A>G p.Y450C missense 0.00000825●●●●●●
180. 27358457 c.116A>G p.D39G missense 0.00000825●●●●●●
181. 27362547 c.421T>C p.C141R missense 0.00000825●●●●●●
182. 27373892 c.887A>G p.Y296C missense 0.00000824●●●●●●
183. 27373877 c.872T>G p.M291R missense 0.00000824●●●●●●
184. 27401754 c.1582A>C p.M528L missense 0.00000824●●●●●●
185. 27369414 c.722A>G p.Y241C missense 0.00000824●●●●●●
186. 27399055 c.1445G>A p.R482Q missense 0.00000824●●●●●●
187. 27382896 c.1076A>G p.N359S missense 0.00000824●●●●●●
188. 27364434 c.583G>A p.D195N missense 0.00000824●●●●●●
189. 27401719 c.1547G>T p.R516M missense 0.00000824●●●●●●
190. 27401293 c.1477G>T p.A493S missense 0.00000824●●●●●●
191. 27402034 c.1663A>T p.M555L missense 0.00000824●●●●●●
192. 27402010 c.1639C>T p.R547W missense 0.00000824●●●●●●
193. 27382881 c.1061C>T p.A354V missense 0.00000824●●●●●●
194. 27399037 c.1427C>G p.A476G missense 0.00000824●●●●●●
195. 27373906 c.901G>C p.A301P missense 0.00000824●●●●●●
196. 27401755 c.1583T>C p.M528T missense 0.00000824●●●●●●
197. 27369422 c.730G>C p.V244L missense 0.00000824●●●●●●
198. 27364486 c.635A>G p.E212G missense 0.00000824●●●●●●
199. 27399055 c.1445G>T p.R482L missense 0.00000824●●●●●●
200. 27382910 c.1090C>A p.P364T missense 0.00000824●●●●●●
201. 27373867 c.862G>C p.V288L missense 0.00000824●●●●●●
202. 27402035 c.1664T>G p.M555R missense 0.00000824●●●●●●
203. 27373879 c.874G>A p.D292N missense 0.00000824●●●●●●
204. 27369396 c.704G>C p.S235T missense 0.00000824●●●●●●
205. 27398080 c.1286T>C p.F429S missense 0.00000824●●●●●●
206. 27401710 c.1538A>G p.H513R missense 0.00000824●●●●●●
207. 27401327 c.1511C>T p.S504F missense 0.00000824●●●●●●
208. 27364428 c.577G>A p.A193T missense 0.00000824●●●●●●
209. 27399040 c.1430G>A p.C477Y missense 0.00000824●●●●●●
210. 27401976 c.1605T>A p.N535K missense 0.00000824●●●●●●
211. 27364432 c.581G>A p.R194H missense 0.00000824●●●●●●
212. 27401704 c.1532T>C p.I511T missense 0.00000824●●●●●●
213. 27382946 c.1126A>G p.K376E missense 0.00000824●●●●●●
214. 27399015 c.1405A>G p.M469V missense 0.00000824●●●●●●
215. 27373882 c.877A>C p.M293L missense 0.00000824●●●●●●
216. 27373876 c.871A>G p.M291V missense 0.00000824●●●●●●
217. 27401754 c.1582A>T p.M528L missense 0.00000824●●●●●●
218. 27401721 c.1549G>A p.G517R missense 0.00000824●●●●●●
219. 27401308 c.1492G>A p.V498M missense 0.00000824●●●●●●
220. 27399046 c.1436G>C p.S479T missense 0.00000824●●●●●●
221. 27382880 c.1060G>A p.A354T missense 0.00000824●●●●●●
222. 27402025 c.1654G>T p.V552F missense 0.00000824●●●●●●
223. 27401979 c.1608G>C p.Q536H missense 0.00000824●●●●●●
224. 27373858 c.853G>A p.G285S missense 0.00000824●●●●●●
225. 27364462 c.611A>G p.Q204R missense 0.00000824●●●●●●
226. 27401706 c.1534C>A p.P512T missense 0.00000824●●●●●●
227. 27401284 c.1468A>T p.M490L missense 0.00000824●●●●●●
228. 27399016 c.1406T>C p.M469T 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.