APOA4 variants in ExAC

APOA4 gene summary
APOA4 variants in

The table below lists the APOA4 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. 116693860 c.48C>T p.A16A splice site 0.00009068●●●●●●
30. 116692176 c.598C>T p.R200C missense 0.00008239●●●●●●
31. 116691926 c.848A>C p.E283A missense 0.00007596●●●●●●
32. 116691984 c.790C>T p.R264W missense 0.00007526●●●●●●
33. 116692194 c.580G>A p.V194M missense 0.00007415●●●●●●
34. 116691951 c.823C>T p.R275C missense 0.00006744●●●●●●
35. 116692374 c.400C>T p.R134C missense 0.00006708●●●●●●
36. 116691864 c.910C>T p.R304X nonsense 0.00006700●●●●●●
37. 116691855 c.919G>C p.V307L missense 0.00006687●●●●●●
38. 116692266 c.508G>C p.E170Q missense 0.00006607●●●●●●
39. 116692116 c.658C>T p.R220C missense 0.00006592●●●●●●
40. 116691627 c.1147C>A p.Q383K missense 0.00005784●●●●●●
41. 116692521 c.253A>G p.T85A missense 0.00005772●●●●●●
42. 116692070 c.704A>G p.N235S missense 0.00005770●●●●●●
43. 116692224 c.550G>A p.D184N missense 0.00005769●●●●●●
44. 116692215 c.559A>G p.K187E missense 0.00005768●●●●●●
45. 116692401 c.373G>A p.G125R missense 0.00005112●●●●●●
46. 116692490 c.284C>T p.S95L missense 0.00005090●●●●●●
47. 116691861 c.913C>T p.R305C missense 0.00005021●●●●●●
48. 116692311 c.463C>T p.R155C missense 0.00005004●●●●●●
49. 116691995 c.779C>T p.A260V missense 0.00004998●●●●●●
50. 116692389 c.385C>G p.R129G missense 0.00004970●●●●●●
51. 116692260 c.514G>A p.A172T missense 0.00004954●●●●●●
52. 116692053 c.721_722insGGCC p.Leu241ArgfsTer133 frameshift 0.00004950●●●●●●
53. 116691716 c.1058C>T p.S353F missense 0.00004944●●●●●●
54. 116692554 c.220G>A p.G74S missense 0.00004943●●●●●●
55. 116692293 c.481G>A p.A161T missense 0.00004151●●●●●●
56. 116692005 c.769T>G p.S257A missense 0.00004151●●●●●●
57. 116692286 c.488G>A p.R163H missense 0.00004141●●●●●●
58. 116692257 c.517G>A p.D173N missense 0.00004127●●●●●●
59. 116691789 c.985C>G p.L329V missense 0.00004126●●●●●●
60. 116692155 c.619G>A p.E207K missense 0.00004120●●●●●●
61. 116692346 c.428G>A p.R143H missense 0.00003486●●●●●●
62. 116692314 c.460C>T p.R154W missense 0.00003339●●●●●●
63. 116692010 c.764G>A p.R255K missense 0.00003317●●●●●●
64. 116692029 c.745G>A p.A249T missense 0.00003307●●●●●●
65. 116692603 c.177-6C>T splice site 0.00003298●●●●●●
66. 116692574 c.200G>A p.G67E missense 0.00003296●●●●●●
67. 116691950 c.824G>A p.R275H missense 0.00002530●●●●●●
68. 116691953 c.821T>C p.V274A missense 0.00002528●●●●●●
69. 116691861 c.913C>A p.R305S missense 0.00002511●●●●●●
70. 116692331 c.443C>T p.T148M missense 0.00002509●●●●●●
71. 116691858 c.916C>T p.R306W missense 0.00002509●●●●●●
72. 116692266 c.508G>A p.E170K missense 0.00002478●●●●●●
73. 116691771 c.1003G>C p.D335H missense 0.00002474●●●●●●
74. 116691776 c.998C>T p.A333V missense 0.00002474●●●●●●
75. 116692232 c.542C>T p.P181L missense 0.00002473●●●●●●
76. 116692455 c.319G>A p.E107K missense 0.00001949●●●●●●
77. 116692358 c.416C>T p.A139V missense 0.00001814●●●●●●
78. 116692352 c.422A>C p.Q141P missense 0.00001777●●●●●●
79. 116692347 c.427C>T p.R143C missense 0.00001744●●●●●●
80. 116691966 c.808T>G p.L270V missense 0.00001687●●●●●●
81. 116691937 c.837G>C p.R279S missense 0.00001686●●●●●●
82. 116691879 c.895C>A p.Q299K missense 0.00001680●●●●●●
83. 116691980 c.794A>C p.Q265P missense 0.00001674●●●●●●
84. 116692323 c.451G>A p.E151K missense 0.00001671●●●●●●
85. 116692313 c.461G>A p.R154Q missense 0.00001669●●●●●●
86. 116691993 c.781G>A p.E261K missense 0.00001668●●●●●●
87. 116692298 c.476C>G p.P159R missense 0.00001664●●●●●●
88. 116691843 c.931G>A p.G311R missense 0.00001664●●●●●●
89. 116692295 c.479A>G p.Y160C missense 0.00001661●●●●●●
90. 116692505 c.269G>A p.R90H missense 0.00001657●●●●●●
91. 116692284 c.490A>G p.M164V missense 0.00001656●●●●●●
92. 116692019 c.755T>C p.L252P missense 0.00001656●●●●●●
93. 116692506 c.268C>T p.R90C missense 0.00001655●●●●●●
94. 116692277 c.497G>A p.R166K missense 0.00001654●●●●●●
95. 116691635 c.1139A>G p.Q380R missense 0.00001652●●●●●●
96. 116692035 c.739A>G p.K247E missense 0.00001652●●●●●●
97. 116691666 c.1108C>A p.L370I missense 0.00001650●●●●●●
98. 116692254 c.520A>G p.S174G missense 0.00001650●●●●●●
99. 116692600 c.177-3C>T splice site 0.00001649●●●●●●
100. 116692166 c.608C>T p.P203L missense 0.00001648●●●●●●
101. 116692227 c.547G>A p.A183T missense 0.00001648●●●●●●
102. 116692557 c.217G>T p.A73S missense 0.00001648●●●●●●
103. 116692104 c.670G>T p.A224S missense 0.00001648●●●●●●
104. 116692113 c.661C>T p.R221C missense 0.00001648●●●●●●
105. 116692134 c.640C>T p.Q214X nonsense 0.00001648●●●●●●
106. 116693465 c.86C>T p.T29M missense 0.00001648●●●●●●
107. 116692557 c.217G>A p.A73T missense 0.00001648●●●●●●
108. 116692161 c.613G>A p.A205T missense 0.00001648●●●●●●
109. 116692543 c.231G>T p.Q77H missense 0.00001648●●●●●●
110. 116692190 c.584A>C p.E195A missense 0.00001648●●●●●●
111. 116691758 c.1016A>G p.H339R missense 0.00001648●●●●●●
112. 116693882 c.26C>T p.T9I missense 0.00001648●●●●●●
113. 116693436 c.115A>C p.S39R missense 0.00001647●●●●●●
114. 116693415 c.136G>A p.V46M missense 0.00001647●●●●●●
115. 116692427 c.347A>G p.H116R missense 0.00001031●●●●●●
116. 116692421 c.353A>G p.N118S missense 0.00001029●●●●●●
117. 116692439 c.335G>A p.R112Q missense 0.00001023●●●●●●
118. 116692440 c.334C>G p.R112G missense 0.00001019●●●●●●
119. 116692398 c.376G>A p.D126N missense 0.00001014●●●●●●
120. 116692450 c.324G>C p.E108D missense 0.00000989●●●●●●
121. 116692450 c.324G>T p.E108D missense 0.00000989●●●●●●
122. 116692370 c.404T>G p.L135R missense 0.00000942●●●●●●
123. 116692368 c.406G>A p.E136K missense 0.00000938●●●●●●
124. 116692360 c.414C>G p.Y138X nonsense 0.00000911●●●●●●
125. 116692358 c.416C>A p.A139E missense 0.00000907●●●●●●
126. 116692479 c.295_297delAAG p.Lys99del inframe 0.00000891●●●●●●
127. 116692343 c.431C>G p.T144S missense 0.00000865●●●●●●
128. 116692343 c.431C>T p.T144I missense 0.00000865●●●●●●
129. 116692490 c.284C>G p.S95W missense 0.00000848●●●●●●
130. 116692491 c.283T>G p.S95A missense 0.00000845●●●●●●
131. 116691917 c.857A>C p.Q286P missense 0.00000844●●●●●●
132. 116691927 c.847G>A p.E283K missense 0.00000844●●●●●●
133. 116691964 c.810G>C p.L270F missense 0.00000843●●●●●●
134. 116691932 c.842A>G p.N281S missense 0.00000843●●●●●●
135. 116691896 c.878G>A p.G293D missense 0.00000842●●●●●●
136. 116691879 c.895C>G p.Q299E missense 0.00000840●●●●●●
137. 116691981 c.793C>T p.Q265X nonsense 0.00000837●●●●●●
138. 116691855 c.919G>A p.V307M missense 0.00000836●●●●●●
139. 116692331 c.443C>A p.T148K missense 0.00000836●●●●●●
140. 116691987 c.787C>G p.L263V missense 0.00000835●●●●●●
141. 116692314 c.460C>G p.R154G missense 0.00000835●●●●●●
142. 116691854 c.920_921delTG p.Val307GlyfsTer65 frameshift 0.00000835●●●●●●
143. 116691996 c.778G>A p.A260T missense 0.00000833●●●●●●
144. 116692299 c.475C>G p.P159A missense 0.00000832●●●●●●
145. 116692004 c.770C>T p.S257L missense 0.00000831●●●●●●
146. 116691836 c.938A>G p.N313S missense 0.00000830●●●●●●
147. 116692294 c.480C>A p.Y160X nonsense 0.00000830●●●●●●
148. 116692292 c.482C>T p.A161V missense 0.00000830●●●●●●
149. 116691825 c.949G>A p.A317T missense 0.00000828●●●●●●
150. 116691826 c.948A>T p.K316N missense 0.00000828●●●●●●
151. 116691621 c.1153C>G p.Q385E missense 0.00000827●●●●●●
152. 116691822 c.952C>G p.L318V missense 0.00000827●●●●●●
153. 116691602 c.1172T>C p.L391P missense 0.00000827●●●●●●
154. 116691818 c.956T>G p.V319G missense 0.00000827●●●●●●
155. 116691644 c.1130A>C p.Q377P missense 0.00000826●●●●●●
156. 116692259 c.515C>A p.A172D missense 0.00000826●●●●●●
157. 116691642 c.1132G>C p.E378Q missense 0.00000826●●●●●●
158. 116691645 c.1129C>T p.Q377X nonsense 0.00000826●●●●●●
159. 116692033 c.741_743delGAA p.Lys247del inframe 0.00000826●●●●●●
160. 116691633 c.1141C>A p.Q381K missense 0.00000826●●●●●●
161. 116691636 c.1138C>T p.Q380X nonsense 0.00000826●●●●●●
162. 116692052 c.722T>A p.L241Q missense 0.00000825●●●●●●
163. 116691782 c.992C>G p.P331R missense 0.00000825●●●●●●
164. 116691669 c.1105_1106delTC p.Ser369ProfsTer3 frameshift 0.00000825●●●●●●
165. 116692056 c.718G>C p.G240R missense 0.00000825●●●●●●
166. 116691672 c.1102C>G p.L368V missense 0.00000825●●●●●●
167. 116693508 c.50-7C>T splice site 0.00000825●●●●●●
168. 116691782 c.992C>T p.P331L missense 0.00000825●●●●●●
169. 116692518 c.256G>A p.E86K missense 0.00000825●●●●●●
170. 116691653 c.1121A>G p.E374G missense 0.00000825●●●●●●
171. 116692520 c.254C>T p.T85I missense 0.00000825●●●●●●
172. 116691795 c.979C>G p.Q327E missense 0.00000825●●●●●●
173. 116691796 c.978G>T p.R326S missense 0.00000825●●●●●●
174. 116692061 c.713T>G p.L238R missense 0.00000825●●●●●●
175. 116691663 c.1111C>T p.P371S missense 0.00000825●●●●●●
176. 116691729 c.1045G>T p.D349Y missense 0.00000824●●●●●●
177. 116692125 c.649G>A p.E217K missense 0.00000824●●●●●●
178. 116691707 c.1067G>A p.S356N missense 0.00000824●●●●●●
179. 116692075 c.699G>T p.K233N missense 0.00000824●●●●●●
180. 116693876 c.32C>A p.A11D missense 0.00000824●●●●●●
181. 116693429 c.122A>T p.N41I missense 0.00000824●●●●●●
182. 116692194 c.580G>T p.V194L missense 0.00000824●●●●●●
183. 116692560 c.214T>C p.Y72H missense 0.00000824●●●●●●
184. 116693891 c.17T>C p.V6A missense 0.00000824●●●●●●
185. 116693440 c.111G>C p.Q37H missense 0.00000824●●●●●●
186. 116692203 c.571G>A p.D191N missense 0.00000824●●●●●●
187. 116693463 c.88G>A p.V30M missense 0.00000824●●●●●●
188. 116693483 c.68G>A p.S23N missense 0.00000824●●●●●●
189. 116693403 c.148C>A p.Q50K missense 0.00000824●●●●●●
190. 116693396 c.155C>G p.S52C missense 0.00000824●●●●●●
191. 116692175 c.599G>C p.R200P missense 0.00000824●●●●●●
192. 116691744 c.1030G>A p.E344K missense 0.00000824●●●●●●
193. 116692148 c.626_627delAA p.Lys209SerfsTer4 frameshift 0.00000824●●●●●●
194. 116692085 c.689C>T p.T230M missense 0.00000824●●●●●●
195. 116693851 c.49+8G>A splice site 0.00000824●●●●●●
196. 116693877 c.31G>A p.A11T missense 0.00000824●●●●●●
197. 116692562 c.212C>G p.T71S missense 0.00000824●●●●●●
198. 116692224 c.550G>C p.D184H missense 0.00000824●●●●●●
199. 116692211 c.563C>T p.A188V missense 0.00000824●●●●●●
200. 116693859 c.49G>A p.G17R missense 0.00000824●●●●●●
201. 116693400 c.151A>G p.K51E missense 0.00000824●●●●●●
202. 116692132 c.642G>C p.Q214H missense 0.00000824●●●●●●
203. 116693408 c.143A>T p.H48L missense 0.00000824●●●●●●
204. 116691723 c.1051G>A p.V351I missense 0.00000824●●●●●●
205. 116692186 c.588G>T p.E196D missense 0.00000824●●●●●●
206. 116691752 c.1022G>A p.S341N missense 0.00000824●●●●●●
207. 116692091 c.683A>G p.Q228R missense 0.00000824●●●●●●
208. 116693883 c.25A>C p.T9P missense 0.00000824●●●●●●
209. 116692175 c.599G>A p.R200H missense 0.00000824●●●●●●
210. 116693895 c.13G>A p.A5T missense 0.00000824●●●●●●
211. 116693377 c.174C>G p.L58L splice site 0.00000824●●●●●●
212. 116693453 c.98A>T p.D33V missense 0.00000824●●●●●●
213. 116693378 c.173T>G p.L58R missense 0.00000824●●●●●●
214. 116692232 c.542C>A p.P181H missense 0.00000824●●●●●●
215. 116692213 c.561G>T p.K187N missense 0.00000824●●●●●●
216. 116692119 c.655C>A p.L219M missense 0.00000824●●●●●●
217. 116691696 c.1078G>C p.E360Q missense 0.00000824●●●●●●
218. 116693876 c.32C>T p.A11V missense 0.00000824●●●●●●
219. 116692558 c.216C>A p.Y72X nonsense 0.00000824●●●●●●
220. 116692541 c.233A>T p.K78M missense 0.00000824●●●●●●
221. 116692101 c.673C>G p.P225A missense 0.00000824●●●●●●
222. 116693889 c.19G>A p.V7I missense 0.00000824●●●●●●
223. 116693900 c.8T>C p.L3P missense 0.00000824●●●●●●
224. 116693469 c.82G>C p.A28P missense 0.00000824●●●●●●
225. 116693457 c.94T>A p.W32R missense 0.00000824●●●●●●
226. 116693384 c.167A>G p.Q56R 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.