EYA4 missense variants in ExAC

EYA4 gene summary
EYA4 variants in

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