APOA4 missense variants in ExAC

APOA4 gene summary
APOA4 variants in

The table below lists the APOA4 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. 116692334 c.440G>A p.S147N missense 0.80886559●●●●●●
2. 116691675 c.1099A>T p.T367S missense 0.15043386●●●●●●
3. 116691634 c.1140G>T p.Q380H missense 0.05244009●●●●●●
4. 116693871 c.37G>A p.V13M missense 0.01002159●●●●●●
5. 116692293 c.481G>T p.A161S missense 0.00738798●●●●●●
6. 116692393 c.381C>A p.N127K missense 0.00260344●●●●●●
7. 116691717 c.1057T>G p.S353A missense 0.00239786●●●●●●
8. 116691675 c.1099A>G p.T367A missense 0.00135273●●●●●●
9. 116692373 c.401G>A p.R134H missense 0.00056974●●●●●●
10. 116691768 c.1006G>A p.V336M missense 0.00055239●●●●●●
11. 116692454 c.320A>G p.E107G missense 0.00037120●●●●●●
12. 116692221 c.553G>A p.E185K missense 0.00035437●●●●●●
13. 116691720 c.1054A>T p.N352Y missense 0.00032137●●●●●●
14. 116692026 c.748G>A p.E250K missense 0.00031440●●●●●●
15. 116693892 c.16G>A p.V6M missense 0.00028842●●●●●●
16. 116693862 c.46G>A p.A16T missense 0.00028026●●●●●●
17. 116692481 c.293T>G p.L98R missense 0.00024503●●●●●●
18. 116691983 c.791G>A p.R264Q missense 0.00024263●●●●●●
19. 116692115 c.659G>A p.R220H missense 0.00021422●●●●●●
20. 116691954 c.820G>A p.V274M missense 0.00016012●●●●●●
21. 116691621 c.1153C>A p.Q385K missense 0.00014888●●●●●●
22. 116692313 c.461G>T p.R154L missense 0.00011684●●●●●●
23. 116692595 c.179C>A p.A60D missense 0.00011540●●●●●●
24. 116693402 c.149A>G p.Q50R missense 0.00011531●●●●●●
25. 116691857 c.917G>A p.R306Q missense 0.00010871●●●●●●
26. 116691863 c.911G>A p.R304Q missense 0.00010052●●●●●●
27. 116692169 c.605C>T p.T202M missense 0.00009887●●●●●●
28. 116692440 c.334C>T p.R112W missense 0.00009169●●●●●●
29. 116692176 c.598C>T p.R200C missense 0.00008239●●●●●●
30. 116691926 c.848A>C p.E283A missense 0.00007596●●●●●●
31. 116691984 c.790C>T p.R264W missense 0.00007526●●●●●●
32. 116692194 c.580G>A p.V194M missense 0.00007415●●●●●●
33. 116691951 c.823C>T p.R275C missense 0.00006744●●●●●●
34. 116692374 c.400C>T p.R134C missense 0.00006708●●●●●●
35. 116691855 c.919G>C p.V307L missense 0.00006687●●●●●●
36. 116692266 c.508G>C p.E170Q missense 0.00006607●●●●●●
37. 116692116 c.658C>T p.R220C missense 0.00006592●●●●●●
38. 116691627 c.1147C>A p.Q383K missense 0.00005784●●●●●●
39. 116692521 c.253A>G p.T85A missense 0.00005772●●●●●●
40. 116692070 c.704A>G p.N235S missense 0.00005770●●●●●●
41. 116692224 c.550G>A p.D184N missense 0.00005769●●●●●●
42. 116692215 c.559A>G p.K187E missense 0.00005768●●●●●●
43. 116692401 c.373G>A p.G125R missense 0.00005112●●●●●●
44. 116692490 c.284C>T p.S95L missense 0.00005090●●●●●●
45. 116691861 c.913C>T p.R305C missense 0.00005021●●●●●●
46. 116692311 c.463C>T p.R155C missense 0.00005004●●●●●●
47. 116691995 c.779C>T p.A260V missense 0.00004998●●●●●●
48. 116692389 c.385C>G p.R129G missense 0.00004970●●●●●●
49. 116692260 c.514G>A p.A172T missense 0.00004954●●●●●●
50. 116691716 c.1058C>T p.S353F missense 0.00004944●●●●●●
51. 116692554 c.220G>A p.G74S missense 0.00004943●●●●●●
52. 116692293 c.481G>A p.A161T missense 0.00004151●●●●●●
53. 116692005 c.769T>G p.S257A missense 0.00004151●●●●●●
54. 116692286 c.488G>A p.R163H missense 0.00004141●●●●●●
55. 116692257 c.517G>A p.D173N missense 0.00004127●●●●●●
56. 116691789 c.985C>G p.L329V missense 0.00004126●●●●●●
57. 116692155 c.619G>A p.E207K missense 0.00004120●●●●●●
58. 116692346 c.428G>A p.R143H missense 0.00003486●●●●●●
59. 116692314 c.460C>T p.R154W missense 0.00003339●●●●●●
60. 116692010 c.764G>A p.R255K missense 0.00003317●●●●●●
61. 116692029 c.745G>A p.A249T missense 0.00003307●●●●●●
62. 116692574 c.200G>A p.G67E missense 0.00003296●●●●●●
63. 116691950 c.824G>A p.R275H missense 0.00002530●●●●●●
64. 116691953 c.821T>C p.V274A missense 0.00002528●●●●●●
65. 116691861 c.913C>A p.R305S missense 0.00002511●●●●●●
66. 116691858 c.916C>T p.R306W missense 0.00002509●●●●●●
67. 116692331 c.443C>T p.T148M missense 0.00002509●●●●●●
68. 116692266 c.508G>A p.E170K missense 0.00002478●●●●●●
69. 116691771 c.1003G>C p.D335H missense 0.00002474●●●●●●
70. 116691776 c.998C>T p.A333V missense 0.00002474●●●●●●
71. 116692232 c.542C>T p.P181L missense 0.00002473●●●●●●
72. 116692455 c.319G>A p.E107K missense 0.00001949●●●●●●
73. 116692358 c.416C>T p.A139V missense 0.00001814●●●●●●
74. 116692352 c.422A>C p.Q141P missense 0.00001777●●●●●●
75. 116692347 c.427C>T p.R143C missense 0.00001744●●●●●●
76. 116691966 c.808T>G p.L270V missense 0.00001687●●●●●●
77. 116691937 c.837G>C p.R279S missense 0.00001686●●●●●●
78. 116691879 c.895C>A p.Q299K missense 0.00001680●●●●●●
79. 116691980 c.794A>C p.Q265P missense 0.00001674●●●●●●
80. 116692323 c.451G>A p.E151K missense 0.00001671●●●●●●
81. 116692313 c.461G>A p.R154Q missense 0.00001669●●●●●●
82. 116691993 c.781G>A p.E261K missense 0.00001668●●●●●●
83. 116691843 c.931G>A p.G311R missense 0.00001664●●●●●●
84. 116692298 c.476C>G p.P159R missense 0.00001664●●●●●●
85. 116692295 c.479A>G p.Y160C missense 0.00001661●●●●●●
86. 116692505 c.269G>A p.R90H missense 0.00001657●●●●●●
87. 116692284 c.490A>G p.M164V missense 0.00001656●●●●●●
88. 116692019 c.755T>C p.L252P missense 0.00001656●●●●●●
89. 116692506 c.268C>T p.R90C missense 0.00001655●●●●●●
90. 116692277 c.497G>A p.R166K missense 0.00001654●●●●●●
91. 116692035 c.739A>G p.K247E missense 0.00001652●●●●●●
92. 116691635 c.1139A>G p.Q380R missense 0.00001652●●●●●●
93. 116691666 c.1108C>A p.L370I missense 0.00001650●●●●●●
94. 116692254 c.520A>G p.S174G missense 0.00001650●●●●●●
95. 116692190 c.584A>C p.E195A missense 0.00001648●●●●●●
96. 116692227 c.547G>A p.A183T missense 0.00001648●●●●●●
97. 116692166 c.608C>T p.P203L missense 0.00001648●●●●●●
98. 116693882 c.26C>T p.T9I missense 0.00001648●●●●●●
99. 116692557 c.217G>T p.A73S missense 0.00001648●●●●●●
100. 116693465 c.86C>T p.T29M missense 0.00001648●●●●●●
101. 116691758 c.1016A>G p.H339R missense 0.00001648●●●●●●
102. 116692543 c.231G>T p.Q77H missense 0.00001648●●●●●●
103. 116692104 c.670G>T p.A224S missense 0.00001648●●●●●●
104. 116692557 c.217G>A p.A73T missense 0.00001648●●●●●●
105. 116692113 c.661C>T p.R221C missense 0.00001648●●●●●●
106. 116692161 c.613G>A p.A205T missense 0.00001648●●●●●●
107. 116693436 c.115A>C p.S39R missense 0.00001647●●●●●●
108. 116693415 c.136G>A p.V46M missense 0.00001647●●●●●●
109. 116692427 c.347A>G p.H116R missense 0.00001031●●●●●●
110. 116692421 c.353A>G p.N118S missense 0.00001029●●●●●●
111. 116692439 c.335G>A p.R112Q missense 0.00001023●●●●●●
112. 116692440 c.334C>G p.R112G missense 0.00001019●●●●●●
113. 116692398 c.376G>A p.D126N missense 0.00001014●●●●●●
114. 116692450 c.324G>T p.E108D missense 0.00000989●●●●●●
115. 116692450 c.324G>C p.E108D missense 0.00000989●●●●●●
116. 116692370 c.404T>G p.L135R missense 0.00000942●●●●●●
117. 116692368 c.406G>A p.E136K missense 0.00000938●●●●●●
118. 116692358 c.416C>A p.A139E missense 0.00000907●●●●●●
119. 116692343 c.431C>T p.T144I missense 0.00000865●●●●●●
120. 116692343 c.431C>G p.T144S missense 0.00000865●●●●●●
121. 116692490 c.284C>G p.S95W missense 0.00000848●●●●●●
122. 116692491 c.283T>G p.S95A missense 0.00000845●●●●●●
123. 116691927 c.847G>A p.E283K missense 0.00000844●●●●●●
124. 116691917 c.857A>C p.Q286P missense 0.00000844●●●●●●
125. 116691964 c.810G>C p.L270F missense 0.00000843●●●●●●
126. 116691932 c.842A>G p.N281S missense 0.00000843●●●●●●
127. 116691896 c.878G>A p.G293D missense 0.00000842●●●●●●
128. 116691879 c.895C>G p.Q299E missense 0.00000840●●●●●●
129. 116691855 c.919G>A p.V307M missense 0.00000836●●●●●●
130. 116692331 c.443C>A p.T148K missense 0.00000836●●●●●●
131. 116691987 c.787C>G p.L263V missense 0.00000835●●●●●●
132. 116692314 c.460C>G p.R154G missense 0.00000835●●●●●●
133. 116691996 c.778G>A p.A260T missense 0.00000833●●●●●●
134. 116692299 c.475C>G p.P159A missense 0.00000832●●●●●●
135. 116692004 c.770C>T p.S257L missense 0.00000831●●●●●●
136. 116691836 c.938A>G p.N313S missense 0.00000830●●●●●●
137. 116692292 c.482C>T p.A161V missense 0.00000830●●●●●●
138. 116691825 c.949G>A p.A317T missense 0.00000828●●●●●●
139. 116691826 c.948A>T p.K316N missense 0.00000828●●●●●●
140. 116691822 c.952C>G p.L318V missense 0.00000827●●●●●●
141. 116691602 c.1172T>C p.L391P missense 0.00000827●●●●●●
142. 116691621 c.1153C>G p.Q385E missense 0.00000827●●●●●●
143. 116691818 c.956T>G p.V319G missense 0.00000827●●●●●●
144. 116691633 c.1141C>A p.Q381K missense 0.00000826●●●●●●
145. 116692259 c.515C>A p.A172D missense 0.00000826●●●●●●
146. 116691642 c.1132G>C p.E378Q missense 0.00000826●●●●●●
147. 116691644 c.1130A>C p.Q377P missense 0.00000826●●●●●●
148. 116691653 c.1121A>G p.E374G missense 0.00000825●●●●●●
149. 116692056 c.718G>C p.G240R missense 0.00000825●●●●●●
150. 116691796 c.978G>T p.R326S missense 0.00000825●●●●●●
151. 116691663 c.1111C>T p.P371S missense 0.00000825●●●●●●
152. 116692061 c.713T>G p.L238R missense 0.00000825●●●●●●
153. 116692052 c.722T>A p.L241Q missense 0.00000825●●●●●●
154. 116692520 c.254C>T p.T85I missense 0.00000825●●●●●●
155. 116691795 c.979C>G p.Q327E missense 0.00000825●●●●●●
156. 116691672 c.1102C>G p.L368V missense 0.00000825●●●●●●
157. 116691782 c.992C>G p.P331R missense 0.00000825●●●●●●
158. 116691782 c.992C>T p.P331L missense 0.00000825●●●●●●
159. 116692518 c.256G>A p.E86K missense 0.00000825●●●●●●
160. 116693384 c.167A>G p.Q56R missense 0.00000824●●●●●●
161. 116691744 c.1030G>A p.E344K missense 0.00000824●●●●●●
162. 116692560 c.214T>C p.Y72H missense 0.00000824●●●●●●
163. 116693483 c.68G>A p.S23N missense 0.00000824●●●●●●
164. 116693876 c.32C>A p.A11D missense 0.00000824●●●●●●
165. 116692091 c.683A>G p.Q228R missense 0.00000824●●●●●●
166. 116693429 c.122A>T p.N41I missense 0.00000824●●●●●●
167. 116693403 c.148C>A p.Q50K missense 0.00000824●●●●●●
168. 116691696 c.1078G>C p.E360Q missense 0.00000824●●●●●●
169. 116693440 c.111G>C p.Q37H missense 0.00000824●●●●●●
170. 116692541 c.233A>T p.K78M missense 0.00000824●●●●●●
171. 116693891 c.17T>C p.V6A missense 0.00000824●●●●●●
172. 116692119 c.655C>A p.L219M missense 0.00000824●●●●●●
173. 116693463 c.88G>A p.V30M missense 0.00000824●●●●●●
174. 116693396 c.155C>G p.S52C missense 0.00000824●●●●●●
175. 116692203 c.571G>A p.D191N missense 0.00000824●●●●●●
176. 116691752 c.1022G>A p.S341N missense 0.00000824●●●●●●
177. 116692224 c.550G>C p.D184H missense 0.00000824●●●●●●
178. 116692194 c.580G>T p.V194L missense 0.00000824●●●●●●
179. 116693877 c.31G>A p.A11T missense 0.00000824●●●●●●
180. 116693859 c.49G>A p.G17R missense 0.00000824●●●●●●
181. 116693408 c.143A>T p.H48L missense 0.00000824●●●●●●
182. 116692101 c.673C>G p.P225A missense 0.00000824●●●●●●
183. 116692562 c.212C>G p.T71S missense 0.00000824●●●●●●
184. 116693895 c.13G>A p.A5T missense 0.00000824●●●●●●
185. 116691723 c.1051G>A p.V351I missense 0.00000824●●●●●●
186. 116692175 c.599G>C p.R200P missense 0.00000824●●●●●●
187. 116692075 c.699G>T p.K233N missense 0.00000824●●●●●●
188. 116693400 c.151A>G p.K51E missense 0.00000824●●●●●●
189. 116692232 c.542C>A p.P181H missense 0.00000824●●●●●●
190. 116692211 c.563C>T p.A188V missense 0.00000824●●●●●●
191. 116693883 c.25A>C p.T9P missense 0.00000824●●●●●●
192. 116693453 c.98A>T p.D33V missense 0.00000824●●●●●●
193. 116692125 c.649G>A p.E217K missense 0.00000824●●●●●●
194. 116693378 c.173T>G p.L58R missense 0.00000824●●●●●●
195. 116692175 c.599G>A p.R200H missense 0.00000824●●●●●●
196. 116691729 c.1045G>T p.D349Y missense 0.00000824●●●●●●
197. 116693900 c.8T>C p.L3P missense 0.00000824●●●●●●
198. 116693469 c.82G>C p.A28P missense 0.00000824●●●●●●
199. 116692132 c.642G>C p.Q214H missense 0.00000824●●●●●●
200. 116692186 c.588G>T p.E196D missense 0.00000824●●●●●●
201. 116693876 c.32C>T p.A11V missense 0.00000824●●●●●●
202. 116692085 c.689C>T p.T230M missense 0.00000824●●●●●●
203. 116691707 c.1067G>A p.S356N missense 0.00000824●●●●●●
204. 116692213 c.561G>T p.K187N missense 0.00000824●●●●●●
205. 116693889 c.19G>A p.V7I missense 0.00000824●●●●●●
206. 116693457 c.94T>A p.W32R 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.