EYA4 variants in ExAC

EYA4 gene summary
EYA4 variants in

The table below lists the EYA4 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. 133789728 c.829G>A p.G277S missense 0.34169364●●●●●●
2. 133783626 c.580+11_580+13delTCT splice site 0.02211797●●●●●●
3. 133789804 c.905G>A p.G302D missense 0.00259183●●●●●●
4. 133789765 c.866C>T p.T289M missense 0.00062739●●●●●●
5. 133802665 c.1035G>C p.R345S missense 0.00059432●●●●●●
6. 133789824 c.925A>G p.T309A missense 0.00036320●●●●●●
7. 133802609 c.979G>A p.D327N missense 0.00033916●●●●●●
8. 133802617 c.987G>T p.M329I missense 0.00029764●●●●●●
9. 133769326 c.277+9G>A splice site 0.00025579●●●●●●
10. 133789798 c.899C>A p.A300D missense 0.00019810●●●●●●
11. 133834093 c.1418G>T p.G473V missense 0.00019776●●●●●●
12. 133844183 c.1617-11C>T splice site 0.00017448●●●●●●
13. 133785941 c.749C>A p.T250N missense 0.00012004●●●●●●
14. 133834170 c.1495G>A p.V499I missense 0.00009924●●●●●●
15. 133827274 c.1222C>T p.R408C missense 0.00009921●●●●●●
16. 133703585 c.83+6G>A splice site 0.00009892●●●●●●
17. 133783623 c.580+8A>C splice site 0.00006620●●●●●●
18. 133782296 c.415T>A p.S139T missense 0.00005774●●●●●●
19. 133782260 c.379A>G p.S127G missense 0.00005774●●●●●●
20. 133767836 c.152C>T p.S51F missense 0.00005767●●●●●●
21. 133836480 c.1523G>A p.R508K missense 0.00005767●●●●●●
22. 133827275 c.1223G>A p.R408H missense 0.00004960●●●●●●
23. 133769292 c.252T>A p.S84R missense 0.00004947●●●●●●
24. 133802608 c.978C>G p.F326L missense 0.00004136●●●●●●
25. 133769253 c.213A>C p.E71D missense 0.00004133●●●●●●
26. 133804171 c.1109G>A p.R370H missense 0.00004130●●●●●●
27. 133789737 c.838C>A p.Q280K missense 0.00004127●●●●●●
28. 133789736 c.837C>G p.N279K missense 0.00004127●●●●●●
29. 133783564 c.529G>A p.V177I missense 0.00004121●●●●●●
30. 133777690 c.278-4G>A splice site 0.00004120●●●●●●
31. 133767787 c.103C>G p.L35V missense 0.00004119●●●●●●
32. 133777763 c.347C>T p.A116V missense 0.00004119●●●●●●
33. 133804249 c.1187G>A p.G396D missense 0.00003304●●●●●●
34. 133802696 c.1066C>T p.R356W missense 0.00003301●●●●●●
35. 133783864 c.686C>T p.P229L missense 0.00003301●●●●●●
36. 133703540 c.44C>T p.T15M missense 0.00003297●●●●●●
37. 133783558 c.523C>A p.P175T missense 0.00003296●●●●●●
38. 133777700 c.284T>C p.L95P missense 0.00003295●●●●●●
39. 133833871 c.1294G>C p.V432L missense 0.00003295●●●●●●
40. 133802595 c.971-6C>G splice site 0.00002485●●●●●●
41. 133844312 c.1735A>G p.I579V missense 0.00002480●●●●●●
42. 133789759 c.860C>T p.A287V missense 0.00002477●●●●●●
43. 133783882 c.704C>T p.P235L missense 0.00002475●●●●●●
44. 133783592 c.557A>G p.Q186R missense 0.00002474●●●●●●
45. 133769316 c.276A>T p.T92T splice site 0.00002474●●●●●●
46. 133834098 c.1423G>T p.V475F missense 0.00002472●●●●●●
47. 133834054 c.1379C>A p.A460E missense 0.00002472●●●●●●
48. 133783544 c.509C>T p.S170L missense 0.00002472●●●●●●
49. 133777745 c.329C>T p.A110V missense 0.00002471●●●●●●
50. 133783520 c.485C>A p.A162D missense 0.00002471●●●●●●
51. 133802594 c.971-7T>C splice site 0.00001657●●●●●●
52. 133802593 c.971-8A>T splice site 0.00001657●●●●●●
53. 133846368 c.1815_1817delAGA p.Glu608del inframe 0.00001655●●●●●●
54. 133769251 c.211G>A p.E71K missense 0.00001654●●●●●●
55. 133827254 c.1202T>C p.M401T missense 0.00001654●●●●●●
56. 133844262 c.1685A>G p.Y562C missense 0.00001652●●●●●●
57. 133844274 c.1697G>A p.G566D missense 0.00001652●●●●●●
58. 133846288 c.1739-4C>G splice site 0.00001651●●●●●●
59. 133783861 c.683C>T p.T228I missense 0.00001651●●●●●●
60. 133783830 c.652G>A p.G218S missense 0.00001651●●●●●●
61. 133789786 c.887C>T p.S296L missense 0.00001651●●●●●●
62. 133789835 c.936G>T p.L312F missense 0.00001651●●●●●●
63. 133595923 c.5A>G p.E2G missense 0.00001650●●●●●●
64. 133783779 c.601G>A p.A201T missense 0.00001650●●●●●●
65. 133782321 c.437+3A>G splice site 0.00001650●●●●●●
66. 133802697 c.1067G>A p.R356Q missense 0.00001650●●●●●●
67. 133802708 c.1078C>A p.P360T missense 0.00001650●●●●●●
68. 133769300 c.260C>T p.T87I missense 0.00001649●●●●●●
69. 133782291 c.410A>G p.Q137R missense 0.00001649●●●●●●
70. 133595951 c.33A>G p.S11S splice site 0.00001649●●●●●●
71. 133703536 c.40A>G p.K14E missense 0.00001649●●●●●●
72. 133777768 c.352G>A p.D118N missense 0.00001648●●●●●●
73. 133767794 c.110G>A p.S37N missense 0.00001648●●●●●●
74. 133767842 c.158T>C p.L53P missense 0.00001648●●●●●●
75. 133836480 c.1523G>C p.R508T missense 0.00001648●●●●●●
76. 133836560 c.1603A>G p.I535V missense 0.00001648●●●●●●
77. 133777689 c.278-5C>T splice site 0.00001648●●●●●●
78. 133833915 c.1338A>G p.L446L splice site 0.00001647●●●●●●
79. 133836510 c.1553T>C p.I518T missense 0.00001647●●●●●●
80. 133836495 c.1538A>G p.Q513R missense 0.00001647●●●●●●
81. 133833886 c.1309G>A p.V437I missense 0.00001647●●●●●●
82. 133785999 c.804+3delA splice site 0.00000872●●●●●●
83. 133785932 c.740C>T p.P247L missense 0.00000868●●●●●●
84. 133785992 c.800A>G p.Q267R missense 0.00000863●●●●●●
85. 133785937 c.745T>A p.S249T missense 0.00000861●●●●●●
86. 133785938 c.746C>T p.S249F missense 0.00000860●●●●●●
87. 133785973 c.781A>G p.T261A missense 0.00000852●●●●●●
88. 133846393 c.1839+1G>A essential splice site 0.00000839●●●●●●
89. 133846381 c.1828G>A p.A610T missense 0.00000832●●●●●●
90. 133769241 c.209-8G>T splice site 0.00000829●●●●●●
91. 133834183 c.1501+7G>A splice site 0.00000829●●●●●●
92. 133827315 c.1263G>T p.L421F missense 0.00000829●●●●●●
93. 133844196 c.1619G>C p.S540T missense 0.00000829●●●●●●
94. 133834181 c.1501+5G>A splice site 0.00000828●●●●●●
95. 133834178 c.1501+2T>A essential splice site 0.00000828●●●●●●
96. 133804258 c.1191+5G>A splice site 0.00000828●●●●●●
97. 133827316 c.1264T>C p.F422L missense 0.00000828●●●●●●
98. 133844313 c.1736T>C p.I579T missense 0.00000827●●●●●●
99. 133789710 c.811C>G p.P271A missense 0.00000827●●●●●●
100. 133827283 c.1231G>C p.E411Q missense 0.00000827●●●●●●
101. 133827296 c.1244A>G p.N415S missense 0.00000827●●●●●●
102. 133827288 c.1236G>C p.M412I missense 0.00000827●●●●●●
103. 133827247 c.1195C>T p.P399S missense 0.00000827●●●●●●
104. 133844320 c.1738+5G>C splice site 0.00000827●●●●●●
105. 133789875 c.970+6G>T splice site 0.00000827●●●●●●
106. 133834173 c.1498G>A p.G500R missense 0.00000827●●●●●●
107. 133827277 c.1225A>G p.M409V missense 0.00000827●●●●●●
108. 133789843 c.944C>T p.S315F missense 0.00000826●●●●●●
109. 133769255 c.215A>G p.N72S missense 0.00000826●●●●●●
110. 133802650 c.1020T>A p.D340E missense 0.00000826●●●●●●
111. 133802640 c.1010A>C p.K337T missense 0.00000826●●●●●●
112. 133789774 c.875C>T p.A292V missense 0.00000826●●●●●●
113. 133789860 c.961A>G p.N321D missense 0.00000826●●●●●●
114. 133846301 c.1748G>T p.S583I missense 0.00000826●●●●●●
115. 133789866 c.967C>G p.P323A missense 0.00000826●●●●●●
116. 133789723 c.824C>G p.A275G missense 0.00000826●●●●●●
117. 133844283 c.1706C>G p.P569R missense 0.00000826●●●●●●
118. 133802640 c.1010A>G p.K337R missense 0.00000826●●●●●●
119. 133783753 c.581-6G>A splice site 0.00000826●●●●●●
120. 133846313 c.1760G>A p.R587Q missense 0.00000826●●●●●●
121. 133802625 c.995C>T p.P332L missense 0.00000826●●●●●●
122. 133789723 c.824C>A p.A275D missense 0.00000826●●●●●●
123. 133789722 c.823G>A p.A275T missense 0.00000826●●●●●●
124. 133802645 c.1015C>G p.L339V missense 0.00000826●●●●●●
125. 133802636 c.1006A>G p.I336V missense 0.00000826●●●●●●
126. 133804246 c.1184A>G p.Y395C missense 0.00000826●●●●●●
127. 133802675 c.1045T>C p.S349P missense 0.00000825●●●●●●
128. 133834138 c.1463T>C p.V488A missense 0.00000825●●●●●●
129. 133782288 c.407A>G p.H136R missense 0.00000825●●●●●●
130. 133783825 c.647A>G p.Q216R missense 0.00000825●●●●●●
131. 133783614 c.579C>T splice site 0.00000825●●●●●●
132. 133783761 c.583T>C splice site 0.00000825●●●●●●
133. 133804203 c.1141A>G p.I381V missense 0.00000825●●●●●●
134. 133783761 c.583T>A p.L195M missense 0.00000825●●●●●●
135. 133802712 c.1082C>T p.S361F missense 0.00000825●●●●●●
136. 133782306 c.425T>C p.L142P missense 0.00000825●●●●●●
137. 133789800 c.901G>A p.D301N missense 0.00000825●●●●●●
138. 133783898 c.720G>A p.M240I missense 0.00000825●●●●●●
139. 133595920 c.2T>C p.M1T missense 0.00000825●●●●●●
140. 133802688 c.1058G>A p.G353E missense 0.00000825●●●●●●
141. 133782255 c.374T>C p.I125T missense 0.00000825●●●●●●
142. 133783878 c.700A>G p.T234A missense 0.00000825●●●●●●
143. 133595932 c.14A>G p.Q5R missense 0.00000825●●●●●●
144. 133804235 c.1173T>G p.Y391X nonsense 0.00000825●●●●●●
145. 133783601 c.566G>A p.S189N missense 0.00000825●●●●●●
146. 133804206 c.1144G>A p.V382I missense 0.00000825●●●●●●
147. 133783764 c.586G>A p.G196S missense 0.00000825●●●●●●
148. 133802667 c.1037G>A p.S346N missense 0.00000825●●●●●●
149. 133782309 c.428A>G p.Y143C missense 0.00000825●●●●●●
150. 133789809 c.910C>G p.P304A missense 0.00000825●●●●●●
151. 133783902 c.724G>A p.G242S missense 0.00000825●●●●●●
152. 133783858 c.680C>T p.S227F missense 0.00000825●●●●●●
153. 133783788 c.610A>G p.T204A missense 0.00000825●●●●●●
154. 133802717 c.1087C>A p.P363T missense 0.00000825●●●●●●
155. 133782296 c.415T>G p.S139A missense 0.00000825●●●●●●
156. 133769297 c.257A>G p.N86S missense 0.00000825●●●●●●
157. 133802743 c.1107+6C>T splice site 0.00000825●●●●●●
158. 133783876 c.698A>G p.Q233R missense 0.00000825●●●●●●
159. 133804239 c.1177C>T p.Q393X nonsense 0.00000825●●●●●●
160. 133783765 c.587G>A p.G196D missense 0.00000825●●●●●●
161. 133783609 c.574A>G p.T192A missense 0.00000825●●●●●●
162. 133769302 c.262C>A p.P88T missense 0.00000825●●●●●●
163. 133802670 c.1040C>A p.S347Y missense 0.00000825●●●●●●
164. 133789815 c.916T>C p.S306P missense 0.00000825●●●●●●
165. 133782281 c.400T>A p.S134T missense 0.00000825●●●●●●
166. 133783810 c.632C>T p.T211I missense 0.00000825●●●●●●
167. 133782322 c.437+4A>G splice site 0.00000825●●●●●●
168. 133783860 c.682A>C p.T228P missense 0.00000825●●●●●●
169. 133804186 c.1124A>T p.D375V missense 0.00000825●●●●●●
170. 133782306 c.425T>A p.L142Q missense 0.00000825●●●●●●
171. 133789822 c.923C>T p.S308F missense 0.00000825●●●●●●
172. 133783770 c.592A>G p.M198V missense 0.00000825●●●●●●
173. 133783523 c.488A>G p.Y163C missense 0.00000824●●●●●●
174. 133783489 c.454C>G p.L152V missense 0.00000824●●●●●●
175. 133849860 c.1840-3C>T splice site 0.00000824●●●●●●
176. 133833892 c.1315T>C p.S439P missense 0.00000824●●●●●●
177. 133767866 c.182C>T p.T61I missense 0.00000824●●●●●●
178. 133834048 c.1373C>A p.A458E missense 0.00000824●●●●●●
179. 133849865 c.1842C>T splice site 0.00000824●●●●●●
180. 133834080 c.1405A>G p.T469A missense 0.00000824●●●●●●
181. 133833853 c.1282-6T>A splice site 0.00000824●●●●●●
182. 133833886 c.1309G>T p.V437F missense 0.00000824●●●●●●
183. 133833861 c.1284G>T p.E428D missense 0.00000824●●●●●●
184. 133767839 c.155A>C p.K52T missense 0.00000824●●●●●●
185. 133777793 c.370+7C>T splice site 0.00000824●●●●●●
186. 133767759 c.84-9C>G splice site 0.00000824●●●●●●
187. 133783543 c.508T>C p.S170P missense 0.00000824●●●●●●
188. 133849870 c.1847T>A p.M616K missense 0.00000824●●●●●●
189. 133836503 c.1546G>A p.A516T missense 0.00000824●●●●●●
190. 133836459 c.1502G>C p.G501A missense 0.00000824●●●●●●
191. 133849855 c.1840-8C>T splice site 0.00000824●●●●●●
192. 133833895 c.1318G>C p.D440H missense 0.00000824●●●●●●
193. 133703555 c.59A>G p.D20G missense 0.00000824●●●●●●
194. 133783498 c.463C>T p.P155S missense 0.00000824●●●●●●
195. 133833919 c.1340+2T>C essential splice site 0.00000824●●●●●●
196. 133783514 c.479T>G p.M160R missense 0.00000824●●●●●●
197. 133777748 c.332C>T p.T111M missense 0.00000824●●●●●●
198. 133833878 c.1301T>C p.I434T missense 0.00000824●●●●●●
199. 133703580 c.83+1G>T essential splice site 0.00000824●●●●●●
200. 133833856 c.1282-3C>T splice site 0.00000824●●●●●●
201. 133833887 c.1310T>C p.V437A missense 0.00000824●●●●●●
202. 133767774 c.90delG p.Glu31LysfsTer5 frameshift 0.00000824●●●●●●
203. 133767883 c.199G>A p.G67R missense 0.00000824●●●●●●
204. 133849858 c.1840-5C>A splice site 0.00000824●●●●●●
205. 133833902 c.1325A>G p.N442S missense 0.00000824●●●●●●
206. 133777708 c.292G>A p.V98I missense 0.00000824●●●●●●
207. 133703534 c.38A>G p.K13R missense 0.00000824●●●●●●
208. 133703523 c.34-7C>G splice site 0.00000824●●●●●●
209. 133783477 c.442T>C p.Y148H missense 0.00000824●●●●●●
210. 133834099 c.1424T>C p.V475A missense 0.00000824●●●●●●
211. 133833923 c.1340+6C>A splice site 0.00000824●●●●●●
212. 133833890 c.1313C>G p.S438C missense 0.00000824●●●●●●
213. 133767845 c.161A>T p.E54V missense 0.00000824●●●●●●
214. 133777787 c.370+1G>A essential splice site 0.00000824●●●●●●
215. 133777720 c.304C>A p.P102T missense 0.00000824●●●●●●
216. 133783486 c.451A>G p.I151V missense 0.00000824●●●●●●
217. 133849859 c.1840-4A>T splice site 0.00000824●●●●●●
218. 133834063 c.1388C>G p.A463G missense 0.00000824●●●●●●
219. 133834046 c.1371T>G p.H457Q missense 0.00000824●●●●●●
220. 133767824 c.140C>A p.T47N missense 0.00000824●●●●●●
221. 133777688 c.278-6A>G splice site 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.