ACTN1 missense variants in ExAC

ACTN1 gene summary
ACTN1 variants in

The table below lists the ACTN1 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. 69341658 c.2663C>T p.P888L missense 0.02005697●●●●●●
2. 69341653 c.2668A>T p.T890S missense 0.01073193●●●●●●
3. 69341650 c.2671G>T p.G891C missense 0.00037114●●●●●●
4. 69351532 c.1454A>G p.N485S missense 0.00036241●●●●●●
5. 69358984 c.872G>A p.R291H missense 0.00029456●●●●●●
6. 69376049 c.580G>A p.G194R missense 0.00017329●●●●●●
7. 69347534 c.2126C>T p.T709I missense 0.00012382●●●●●●
8. 69387836 c.227G>A p.R76H missense 0.00010727●●●●●●
9. 69369274 c.682G>A p.V228I missense 0.00010714●●●●●●
10. 69341709 c.2612G>A p.R871H missense 0.00009372●●●●●●
11. 69341670 c.2651C>T p.A884V missense 0.00009278●●●●●●
12. 69349272 c.1856C>T p.T619M missense 0.00009106●●●●●●
13. 69358898 c.958C>T p.R320W missense 0.00009063●●●●●●
14. 69350964 c.1556C>T p.A519V missense 0.00009063●●●●●●
15. 69345218 c.2384C>T p.T795M missense 0.00008289●●●●●●
16. 69392382 c.113C>T p.T38M missense 0.00007510●●●●●●
17. 69346720 c.2239C>G p.Q747E missense 0.00007415●●●●●●
18. 69341662 c.2659G>A p.A887T missense 0.00006745●●●●●●
19. 69358985 c.871C>T p.R291C missense 0.00005893●●●●●●
20. 69347625 c.2035G>A p.V679I missense 0.00005766●●●●●●
21. 69356891 c.1199G>A p.R400Q missense 0.00005060●●●●●●
22. 69343881 c.2504T>C p.I835T missense 0.00004124●●●●●●
23. 69349648 c.1760C>T p.A587V missense 0.00004119●●●●●●
24. 69341719 c.2602G>A p.D868N missense 0.00003425●●●●●●
25. 69341707 c.2614C>T p.R872C missense 0.00003406●●●●●●
26. 69341706 c.2615G>A p.R872H missense 0.00003405●●●●●●
27. 69358771 c.1085C>T p.S362L missense 0.00003318●●●●●●
28. 69392368 c.127T>G p.S43A missense 0.00003313●●●●●●
29. 69345714 c.2353G>A p.D785N missense 0.00003300●●●●●●
30. 69343914 c.2471A>G p.N824S missense 0.00003298●●●●●●
31. 69343911 c.2474G>A p.R825H missense 0.00003298●●●●●●
32. 69351566 c.1420G>A p.A474T missense 0.00003295●●●●●●
33. 69349621 c.1787C>T p.T596M missense 0.00003295●●●●●●
34. 69345204 c.2398G>A p.A800T missense 0.00002782●●●●●●
35. 69341715 c.2606A>G p.E869G missense 0.00002564●●●●●●
36. 69341674 c.2647A>G p.I883V missense 0.00002531●●●●●●
37. 69349305 c.1823G>A p.R608Q missense 0.00002486●●●●●●
38. 69346681 c.2278C>T p.R760W missense 0.00002479●●●●●●
39. 69392352 c.143C>T p.A48V missense 0.00002479●●●●●●
40. 69358945 c.911A>G p.N304S missense 0.00002475●●●●●●
41. 69345716 c.2351A>G p.N784S missense 0.00002475●●●●●●
42. 69347543 c.2117C>T p.T706I missense 0.00002474●●●●●●
43. 69347687 c.1973T>C p.I658T missense 0.00002473●●●●●●
44. 69360391 c.836A>G p.Y279C missense 0.00002473●●●●●●
45. 69358851 c.1005G>C p.E335D missense 0.00002472●●●●●●
46. 69350988 c.1532A>G p.Y511C missense 0.00002472●●●●●●
47. 69387786 c.277G>A p.V93I missense 0.00002471●●●●●●
48. 69351562 c.1424G>A p.R475H missense 0.00002471●●●●●●
49. 69351552 c.1434G>T p.K478N missense 0.00002471●●●●●●
50. 69347589 c.2071G>A p.D691N missense 0.00002471●●●●●●
51. 69341593 c.2728G>A p.G910S missense 0.00001793●●●●●●
52. 69341601 c.2720C>T p.A907V missense 0.00001759●●●●●●
53. 69341646 c.2675C>T p.P892L missense 0.00001687●●●●●●
54. 69341661 c.2660C>T p.A887V missense 0.00001687●●●●●●
55. 69358981 c.875G>A p.R292H missense 0.00001679●●●●●●
56. 69350895 c.1625A>G p.E542G missense 0.00001671●●●●●●
57. 69358972 c.884C>T p.P295L missense 0.00001669●●●●●●
58. 69352161 c.1366G>A p.A456T missense 0.00001665●●●●●●
59. 69349201 c.1927G>T p.G643W missense 0.00001664●●●●●●
60. 69349201 c.1927G>A p.G643R missense 0.00001664●●●●●●
61. 69351025 c.1495C>T p.R499W missense 0.00001661●●●●●●
62. 69351024 c.1496G>A p.R499Q missense 0.00001660●●●●●●
63. 69358781 c.1075A>G p.R359G missense 0.00001654●●●●●●
64. 69352259 c.1268A>G p.E423G missense 0.00001653●●●●●●
65. 69392316 c.179G>A p.R60Q missense 0.00001652●●●●●●
66. 69392349 c.146G>A p.G49E missense 0.00001652●●●●●●
67. 69343941 c.2444C>T p.A815V missense 0.00001651●●●●●●
68. 69376075 c.554G>A p.R185Q missense 0.00001651●●●●●●
69. 69387837 c.226C>T p.R76C missense 0.00001651●●●●●●
70. 69358947 c.909G>C p.E303D missense 0.00001651●●●●●●
71. 69357002 c.1088A>G p.D363G missense 0.00001651●●●●●●
72. 69356996 c.1094A>G p.N365S missense 0.00001650●●●●●●
73. 69376069 c.560G>A p.R187Q missense 0.00001650●●●●●●
74. 69347549 c.2111A>G p.K704R missense 0.00001649●●●●●●
75. 69376673 c.514A>T p.S172C missense 0.00001649●●●●●●
76. 69347688 c.1972A>G p.I658V missense 0.00001649●●●●●●
77. 69358938 c.918G>T p.M306I missense 0.00001649●●●●●●
78. 69371389 c.659A>T p.K220M missense 0.00001648●●●●●●
79. 69350970 c.1550G>A p.R517Q missense 0.00001648●●●●●●
80. 69358894 c.962G>A p.R321H missense 0.00001648●●●●●●
81. 69351523 c.1463C>T p.A488V missense 0.00001647●●●●●●
82. 69349666 c.1742C>T p.T581I missense 0.00001647●●●●●●
83. 69349714 c.1694G>T p.R565L missense 0.00001647●●●●●●
84. 69349658 c.1750G>A p.V584I missense 0.00001647●●●●●●
85. 69345186 c.2416G>T p.G806C missense 0.00000931●●●●●●
86. 69345188 c.2414T>C p.M805T missense 0.00000931●●●●●●
87. 69345206 c.2396G>A p.R799H missense 0.00000927●●●●●●
88. 69345207 c.2395C>T p.R799C missense 0.00000925●●●●●●
89. 69356871 c.1219G>A p.E407K missense 0.00000922●●●●●●
90. 69345227 c.2375T>C p.M792T missense 0.00000916●●●●●●
91. 69345233 c.2369C>A p.T790K missense 0.00000914●●●●●●
92. 69345234 c.2368A>G p.T790A missense 0.00000913●●●●●●
93. 69356876 c.1214T>C p.I405T missense 0.00000886●●●●●●
94. 69356879 c.1211C>G p.S404C missense 0.00000875●●●●●●
95. 69341733 c.2588A>G p.N863S missense 0.00000870●●●●●●
96. 69341732 c.2589C>A p.N863K missense 0.00000870●●●●●●
97. 69341731 c.2590T>C p.Y864H missense 0.00000869●●●●●●
98. 69341730 c.2591A>G p.Y864C missense 0.00000867●●●●●●
99. 69356883 c.1207G>T p.A403S missense 0.00000863●●●●●●
100. 69341722 c.2599A>G p.M867V missense 0.00000858●●●●●●
101. 69341616 c.2705T>A p.M902K missense 0.00000856●●●●●●
102. 69341617 c.2704A>C p.M902L missense 0.00000855●●●●●●
103. 69341621 c.2700C>G p.D900E missense 0.00000853●●●●●●
104. 69341710 c.2611C>T p.R871C missense 0.00000852●●●●●●
105. 69341707 c.2614C>A p.R872S missense 0.00000851●●●●●●
106. 69341702 c.2619G>C p.E873D missense 0.00000849●●●●●●
107. 69341697 c.2624C>G p.P875R missense 0.00000849●●●●●●
108. 69341697 c.2624C>T p.P875L missense 0.00000849●●●●●●
109. 69341695 c.2626C>T p.P876S missense 0.00000847●●●●●●
110. 69343800 c.2585A>C p.K862T missense 0.00000847●●●●●●
111. 69341638 c.2683G>A p.V895M missense 0.00000846●●●●●●
112. 69341634 c.2687C>T p.P896L missense 0.00000846●●●●●●
113. 69341685 c.2636C>T p.A879V missense 0.00000845●●●●●●
114. 69341686 c.2635G>A p.A879T missense 0.00000845●●●●●●
115. 69341640 c.2681C>T p.S894F missense 0.00000845●●●●●●
116. 69341677 c.2644T>C p.C882R missense 0.00000844●●●●●●
117. 69341679 c.2642A>G p.Y881C missense 0.00000844●●●●●●
118. 69341649 c.2672G>C p.G891A missense 0.00000844●●●●●●
119. 69341661 c.2660C>A p.A887D missense 0.00000843●●●●●●
120. 69356891 c.1199G>T p.R400L missense 0.00000843●●●●●●
121. 69341650 c.2671G>A p.G891S missense 0.00000843●●●●●●
122. 69341659 c.2662C>T p.P888S missense 0.00000843●●●●●●
123. 69341667 c.2654G>C p.R885P missense 0.00000843●●●●●●
124. 69358985 c.871C>G p.R291G missense 0.00000842●●●●●●
125. 69358982 c.874C>A p.R292S missense 0.00000840●●●●●●
126. 69358982 c.874C>T p.R292C missense 0.00000840●●●●●●
127. 69358976 c.880A>G p.I294V missense 0.00000836●●●●●●
128. 69445770 c.4G>A p.D2N missense 0.00000832●●●●●●
129. 69445722 c.52G>C p.D18H missense 0.00000832●●●●●●
130. 69350899 c.1621A>G p.I541V missense 0.00000831●●●●●●
131. 69445737 c.37A>G p.M13V missense 0.00000831●●●●●●
132. 69351024 c.1496G>T p.R499L missense 0.00000830●●●●●●
133. 69349224 c.1904T>C p.F635S missense 0.00000830●●●●●●
134. 69349290 c.1838G>A p.R613Q missense 0.00000828●●●●●●
135. 69352274 c.1253G>A p.R418Q missense 0.00000828●●●●●●
136. 69358774 c.1082T>C p.V361A missense 0.00000828●●●●●●
137. 69352274 c.1253G>C p.R418P missense 0.00000828●●●●●●
138. 69352178 c.1349G>T p.R450L missense 0.00000828●●●●●●
139. 69351019 c.1501G>A p.E501K missense 0.00000828●●●●●●
140. 69349272 c.1856C>A p.T619K missense 0.00000828●●●●●●
141. 69392292 c.203T>C p.L68P missense 0.00000828●●●●●●
142. 69352275 c.1252C>G p.R418G missense 0.00000828●●●●●●
143. 69360463 c.764C>T p.A255V missense 0.00000827●●●●●●
144. 69358780 c.1076G>A p.R359K missense 0.00000827●●●●●●
145. 69356918 c.1172G>A p.R391Q missense 0.00000827●●●●●●
146. 69345744 c.2323C>G p.L775V missense 0.00000827●●●●●●
147. 69392359 c.136C>T p.R46W missense 0.00000827●●●●●●
148. 69343855 c.2530G>C p.D844H missense 0.00000827●●●●●●
149. 69346680 c.2279G>A p.R760Q missense 0.00000827●●●●●●
150. 69352244 c.1283C>T p.S428L missense 0.00000826●●●●●●
151. 69343861 c.2524A>G p.T842A missense 0.00000826●●●●●●
152. 69358787 c.1069G>C p.E357Q missense 0.00000826●●●●●●
153. 69376094 c.535T>C p.F179L missense 0.00000826●●●●●●
154. 69352248 c.1279C>T p.L427F missense 0.00000826●●●●●●
155. 69358790 c.1066T>C p.S356P missense 0.00000826●●●●●●
156. 69352254 c.1273G>A p.A425T missense 0.00000826●●●●●●
157. 69358949 c.907G>A p.E303K missense 0.00000826●●●●●●
158. 69376079 c.550C>A p.H184N missense 0.00000825●●●●●●
159. 69376049 c.580G>C p.G194R missense 0.00000825●●●●●●
160. 69343933 c.2452A>G p.M818V missense 0.00000825●●●●●●
161. 69356985 c.1105G>A p.G369S missense 0.00000825●●●●●●
162. 69351004 c.1516A>G p.T506A missense 0.00000825●●●●●●
163. 69387830 c.233C>A p.A78D missense 0.00000825●●●●●●
164. 69376051 c.578A>G p.Y193C missense 0.00000825●●●●●●
165. 69392330 c.165C>G p.I55M missense 0.00000825●●●●●●
166. 69346690 c.2269C>T p.H757Y missense 0.00000825●●●●●●
167. 69360389 c.838G>A p.E280K missense 0.00000825●●●●●●
168. 69343927 c.2458A>G p.I820V missense 0.00000825●●●●●●
169. 69387726 c.337G>A p.E113K missense 0.00000825●●●●●●
170. 69360446 c.781C>T p.R261C missense 0.00000825●●●●●●
171. 69352227 c.1300C>T p.L434F missense 0.00000825●●●●●●
172. 69358808 c.1048C>T p.R350W missense 0.00000825●●●●●●
173. 69356950 c.1140G>C p.E380D missense 0.00000825●●●●●●
174. 69346813 c.2146G>T p.G716C missense 0.00000825●●●●●●
175. 69350916 c.1604C>T p.T535I missense 0.00000825●●●●●●
176. 69343938 c.2447G>T p.R816L missense 0.00000825●●●●●●
177. 69392329 c.166G>A p.E56K missense 0.00000825●●●●●●
178. 69347630 c.2030G>A p.S677N missense 0.00000824●●●●●●
179. 69347580 c.2080C>T p.L694F missense 0.00000824●●●●●●
180. 69346768 c.2191G>A p.V731I missense 0.00000824●●●●●●
181. 69350971 c.1549C>T p.R517W missense 0.00000824●●●●●●
182. 69349714 c.1694G>A p.R565H missense 0.00000824●●●●●●
183. 69349661 c.1747C>G p.H583D missense 0.00000824●●●●●●
184. 69376708 c.479C>T p.P160L missense 0.00000824●●●●●●
185. 69356951 c.1139A>T p.E380V missense 0.00000824●●●●●●
186. 69346704 c.2255G>A p.R752Q missense 0.00000824●●●●●●
187. 69371428 c.620C>A p.T207K missense 0.00000824●●●●●●
188. 69360428 c.799G>T p.A267S missense 0.00000824●●●●●●
189. 69351589 c.1397A>G p.Y466C missense 0.00000824●●●●●●
190. 69358931 c.925A>G p.M309V missense 0.00000824●●●●●●
191. 69358895 c.961C>T p.R321C missense 0.00000824●●●●●●
192. 69350934 c.1586T>C p.M529T missense 0.00000824●●●●●●
193. 69349639 c.1769A>G p.N590S missense 0.00000824●●●●●●
194. 69378957 c.343A>G p.I115V missense 0.00000824●●●●●●
195. 69349702 c.1706T>C p.L569P missense 0.00000824●●●●●●
196. 69347655 c.2005A>G p.S669G missense 0.00000824●●●●●●
197. 69369214 c.742G>A p.A248T missense 0.00000824●●●●●●
198. 69346773 c.2186A>G p.N729S missense 0.00000824●●●●●●
199. 69346767 c.2192T>A p.V731E missense 0.00000824●●●●●●
200. 69351508 c.1478G>A p.R493Q missense 0.00000824●●●●●●
201. 69358856 c.1000C>A p.L334M missense 0.00000824●●●●●●
202. 69349715 c.1693C>T p.R565C missense 0.00000824●●●●●●
203. 69376712 c.475G>T p.A159S missense 0.00000824●●●●●●
204. 69349603 c.1805G>A p.G602D missense 0.00000824●●●●●●
205. 69347552 c.2108A>T p.N703I missense 0.00000824●●●●●●
206. 69346786 c.2173G>A p.A725T missense 0.00000824●●●●●●
207. 69371428 c.620C>T p.T207M missense 0.00000824●●●●●●
208. 69360436 c.791A>G p.K264R missense 0.00000824●●●●●●
209. 69358936 c.920A>T p.H307L missense 0.00000824●●●●●●
210. 69358906 c.950G>A p.R317Q missense 0.00000824●●●●●●
211. 69350956 c.1564A>G p.N522D missense 0.00000824●●●●●●
212. 69356957 c.1133A>G p.Y378C missense 0.00000824●●●●●●
213. 69371405 c.643T>C p.Y215H missense 0.00000824●●●●●●
214. 69369232 c.724G>A p.V242M missense 0.00000824●●●●●●
215. 69346795 c.2164A>T p.T722S missense 0.00000824●●●●●●
216. 69351524 c.1462G>A p.A488T missense 0.00000824●●●●●●
217. 69343896 c.2489C>T p.T830I missense 0.00000824●●●●●●
218. 69371375 c.673G>A p.E225K missense 0.00000824●●●●●●
219. 69358876 c.980A>G p.K327R missense 0.00000824●●●●●●
220. 69349754 c.1654G>A p.E552K missense 0.00000824●●●●●●
221. 69378882 c.418T>G p.S140A missense 0.00000824●●●●●●
222. 69349603 c.1805G>T p.G602V missense 0.00000824●●●●●●
223. 69371449 c.599A>T p.D200V missense 0.00000824●●●●●●
224. 69347625 c.2035G>C p.V679L missense 0.00000824●●●●●●
225. 69347570 c.2090A>G p.E697G missense 0.00000824●●●●●●
226. 69351581 c.1405T>C p.S469P missense 0.00000824●●●●●●
227. 69346705 c.2254C>T p.R752W missense 0.00000824●●●●●●
228. 69346767 c.2192T>C p.V731A missense 0.00000824●●●●●●
229. 69376674 c.513A>G p.I171M missense 0.00000824●●●●●●
230. 69356969 c.1121T>C p.V374A missense 0.00000824●●●●●●
231. 69371417 c.631G>A p.V211M missense 0.00000824●●●●●●
232. 69369274 c.682G>C p.V228L missense 0.00000824●●●●●●
233. 69351533 c.1453A>G p.N485D missense 0.00000824●●●●●●
234. 69358880 c.976C>T p.P326S missense 0.00000824●●●●●●
235. 69343908 c.2477T>G p.L826R missense 0.00000824●●●●●●
236. 69358930 c.926T>A p.M309K missense 0.00000824●●●●●●
237. 69387735 c.328A>G p.I110V missense 0.00000824●●●●●●
238. 69378947 c.353G>C p.G118A 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.