ACTN1 variants in ExAC

ACTN1 gene summary
ACTN1 variants in

The table below lists the ACTN1 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. 69392264 c.220+11A>C splice site 0.71034431●●●●●●
2. 69378863 c.427+10T>C splice site 0.20600989●●●●●●
3. 69341658 c.2663C>T p.P888L missense 0.02005697●●●●●●
4. 69341653 c.2668A>T p.T890S missense 0.01073193●●●●●●
5. 69371366 c.676+6A>G splice site 0.00198756●●●●●●
6. 69346834 c.2134-9G>A splice site 0.00098549●●●●●●
7. 69371363 c.676+9C>T splice site 0.00082489●●●●●●
8. 69346835 c.2134-10C>T splice site 0.00043895●●●●●●
9. 69341650 c.2671G>T p.G891C missense 0.00037114●●●●●●
10. 69351532 c.1454A>G p.N485S missense 0.00036241●●●●●●
11. 69358984 c.872G>A p.R291H missense 0.00029456●●●●●●
12. 69345797 c.2281-11C>T splice site 0.00028955●●●●●●
13. 69376049 c.580G>A p.G194R missense 0.00017329●●●●●●
14. 69347534 c.2126C>T p.T709I missense 0.00012382●●●●●●
15. 69369188 c.762+6C>T splice site 0.00011537●●●●●●
16. 69387836 c.227G>A p.R76H missense 0.00010727●●●●●●
17. 69369274 c.682G>A p.V228I missense 0.00010714●●●●●●
18. 69341709 c.2612G>A p.R871H missense 0.00009372●●●●●●
19. 69341670 c.2651C>T p.A884V missense 0.00009278●●●●●●
20. 69356857 c.1233C>T p.D411D splice site 0.00009237●●●●●●
21. 69349272 c.1856C>T p.T619M missense 0.00009106●●●●●●
22. 69350964 c.1556C>T p.A519V missense 0.00009063●●●●●●
23. 69358898 c.958C>T p.R320W missense 0.00009063●●●●●●
24. 69345218 c.2384C>T p.T795M missense 0.00008289●●●●●●
25. 69392382 c.113C>T p.T38M missense 0.00007510●●●●●●
26. 69345699 c.2361+7G>A splice site 0.00007425●●●●●●
27. 69346720 c.2239C>G p.Q747E missense 0.00007415●●●●●●
28. 69341662 c.2659G>A p.A887T missense 0.00006745●●●●●●
29. 69376120 c.516-7C>T splice site 0.00006686●●●●●●
30. 69358985 c.871C>T p.R291C missense 0.00005893●●●●●●
31. 69347625 c.2035G>A p.V679I missense 0.00005766●●●●●●
32. 69345170 c.2427+5C>T splice site 0.00005636●●●●●●
33. 69356891 c.1199G>A p.R400Q missense 0.00005060●●●●●●
34. 69392268 c.220+7C>T splice site 0.00004989●●●●●●
35. 69343881 c.2504T>C p.I835T missense 0.00004124●●●●●●
36. 69349648 c.1760C>T p.A587V missense 0.00004119●●●●●●
37. 69341719 c.2602G>A p.D868N missense 0.00003425●●●●●●
38. 69341707 c.2614C>T p.R872C missense 0.00003406●●●●●●
39. 69341706 c.2615G>A p.R872H missense 0.00003405●●●●●●
40. 69358771 c.1085C>T p.S362L missense 0.00003318●●●●●●
41. 69392368 c.127T>G p.S43A missense 0.00003313●●●●●●
42. 69387717 c.340+6G>T splice site 0.00003304●●●●●●
43. 69345714 c.2353G>A p.D785N missense 0.00003300●●●●●●
44. 69343911 c.2474G>A p.R825H missense 0.00003298●●●●●●
45. 69343914 c.2471A>G p.N824S missense 0.00003298●●●●●●
46. 69351566 c.1420G>A p.A474T missense 0.00003295●●●●●●
47. 69349621 c.1787C>T p.T596M missense 0.00003295●●●●●●
48. 69345204 c.2398G>A p.A800T missense 0.00002782●●●●●●
49. 69345245 c.2362-5C>T splice site 0.00002742●●●●●●
50. 69341715 c.2606A>G p.E869G missense 0.00002564●●●●●●
51. 69341674 c.2647A>G p.I883V missense 0.00002531●●●●●●
52. 69349305 c.1823G>A p.R608Q missense 0.00002486●●●●●●
53. 69360462 c.765G>A p.A255A splice site 0.00002480●●●●●●
54. 69392352 c.143C>T p.A48V missense 0.00002479●●●●●●
55. 69346681 c.2278C>T p.R760W missense 0.00002479●●●●●●
56. 69345699 c.2361+7G>T splice site 0.00002475●●●●●●
57. 69358945 c.911A>G p.N304S missense 0.00002475●●●●●●
58. 69345716 c.2351A>G p.N784S missense 0.00002475●●●●●●
59. 69347543 c.2117C>T p.T706I missense 0.00002474●●●●●●
60. 69360391 c.836A>G p.Y279C missense 0.00002473●●●●●●
61. 69347687 c.1973T>C p.I658T missense 0.00002473●●●●●●
62. 69358851 c.1005G>C p.E335D missense 0.00002472●●●●●●
63. 69350988 c.1532A>G p.Y511C missense 0.00002472●●●●●●
64. 69387786 c.277G>A p.V93I missense 0.00002471●●●●●●
65. 69351552 c.1434G>T p.K478N missense 0.00002471●●●●●●
66. 69351562 c.1424G>A p.R475H missense 0.00002471●●●●●●
67. 69347589 c.2071G>A p.D691N missense 0.00002471●●●●●●
68. 69345245 c.2362-5C>G splice site 0.00001828●●●●●●
69. 69345250 c.2362-10C>T splice site 0.00001823●●●●●●
70. 69341593 c.2728G>A p.G910S missense 0.00001793●●●●●●
71. 69341601 c.2720C>T p.A907V missense 0.00001759●●●●●●
72. 69341646 c.2675C>T p.P892L missense 0.00001687●●●●●●
73. 69341661 c.2660C>T p.A887V missense 0.00001687●●●●●●
74. 69358981 c.875G>A p.R292H missense 0.00001679●●●●●●
75. 69349168 c.1953+7C>A splice site 0.00001676●●●●●●
76. 69350895 c.1625A>G p.E542G missense 0.00001671●●●●●●
77. 69358972 c.884C>T p.P295L missense 0.00001669●●●●●●
78. 69352161 c.1366G>A p.A456T missense 0.00001665●●●●●●
79. 69349201 c.1927G>A p.G643R missense 0.00001664●●●●●●
80. 69349201 c.1927G>T p.G643W missense 0.00001664●●●●●●
81. 69351029 c.1495-4C>T splice site 0.00001662●●●●●●
82. 69351025 c.1495C>T p.R499W missense 0.00001661●●●●●●
83. 69351024 c.1496G>A p.R499Q missense 0.00001660●●●●●●
84. 69347713 c.1954-7T>G splice site 0.00001656●●●●●●
85. 69358781 c.1075A>G p.R359G missense 0.00001654●●●●●●
86. 69352259 c.1268A>G p.E423G missense 0.00001653●●●●●●
87. 69392349 c.146G>A p.G49E missense 0.00001652●●●●●●
88. 69360368 c.855+4G>T splice site 0.00001652●●●●●●
89. 69392316 c.179G>A p.R60Q missense 0.00001652●●●●●●
90. 69376031 c.594+4delT splice site 0.00001652●●●●●●
91. 69358947 c.909G>C p.E303D missense 0.00001651●●●●●●
92. 69357002 c.1088A>G p.D363G missense 0.00001651●●●●●●
93. 69387837 c.226C>T p.R76C missense 0.00001651●●●●●●
94. 69376075 c.554G>A p.R185Q missense 0.00001651●●●●●●
95. 69343941 c.2444C>T p.A815V missense 0.00001651●●●●●●
96. 69376069 c.560G>A p.R187Q missense 0.00001650●●●●●●
97. 69356996 c.1094A>G p.N365S missense 0.00001650●●●●●●
98. 69358938 c.918G>T p.M306I missense 0.00001649●●●●●●
99. 69347549 c.2111A>G p.K704R missense 0.00001649●●●●●●
100. 69376673 c.514A>T p.S172C missense 0.00001649●●●●●●
101. 69347688 c.1972A>G p.I658V missense 0.00001649●●●●●●
102. 69369283 c.677-4A>G splice site 0.00001648●●●●●●
103. 69350970 c.1550G>A p.R517Q missense 0.00001648●●●●●●
104. 69358894 c.962G>A p.R321H missense 0.00001648●●●●●●
105. 69371389 c.659A>T p.K220M missense 0.00001648●●●●●●
106. 69351523 c.1463C>T p.A488V missense 0.00001647●●●●●●
107. 69349714 c.1694G>T p.R565L missense 0.00001647●●●●●●
108. 69349658 c.1750G>A p.V584I missense 0.00001647●●●●●●
109. 69349666 c.1742C>T p.T581I missense 0.00001647●●●●●●
110. 69356851 c.1234+5G>C splice site 0.00001070●●●●●●
111. 69356855 c.1234+1G>A essential splice site 0.00001040●●●●●●
112. 69345169 c.2427+6G>A splice site 0.00000941●●●●●●
113. 69345188 c.2414T>C p.M805T missense 0.00000931●●●●●●
114. 69345186 c.2416G>T p.G806C missense 0.00000931●●●●●●
115. 69345206 c.2396G>A p.R799H missense 0.00000927●●●●●●
116. 69345207 c.2395C>T p.R799C missense 0.00000925●●●●●●
117. 69356871 c.1219G>A p.E407K missense 0.00000922●●●●●●
118. 69345227 c.2375T>C p.M792T missense 0.00000916●●●●●●
119. 69345233 c.2369C>A p.T790K missense 0.00000914●●●●●●
120. 69345234 c.2368A>G p.T790A missense 0.00000913●●●●●●
121. 69345247 c.2362-7C>T splice site 0.00000910●●●●●●
122. 69341594 c.2727C>G p.Y909X nonsense 0.00000893●●●●●●
123. 69341742 c.2587-8C>T splice site 0.00000889●●●●●●
124. 69356876 c.1214T>C p.I405T missense 0.00000886●●●●●●
125. 69341737 c.2587-3C>T splice site 0.00000879●●●●●●
126. 69356879 c.1211C>G p.S404C missense 0.00000875●●●●●●
127. 69341732 c.2589C>A p.N863K missense 0.00000870●●●●●●
128. 69341733 c.2588A>G p.N863S missense 0.00000870●●●●●●
129. 69341731 c.2590T>C p.Y864H missense 0.00000869●●●●●●
130. 69341730 c.2591A>G p.Y864C missense 0.00000867●●●●●●
131. 69356883 c.1207G>T p.A403S missense 0.00000863●●●●●●
132. 69341722 c.2599A>G p.M867V missense 0.00000858●●●●●●
133. 69341616 c.2705T>A p.M902K missense 0.00000856●●●●●●
134. 69341617 c.2704A>C p.M902L missense 0.00000855●●●●●●
135. 69341621 c.2700C>G p.D900E missense 0.00000853●●●●●●
136. 69341710 c.2611C>T p.R871C missense 0.00000852●●●●●●
137. 69341707 c.2614C>A p.R872S missense 0.00000851●●●●●●
138. 69343796 c.2586+3G>T splice site 0.00000851●●●●●●
139. 69341697 c.2624C>T p.P875L missense 0.00000849●●●●●●
140. 69341702 c.2619G>C p.E873D missense 0.00000849●●●●●●
141. 69341697 c.2624C>G p.P875R missense 0.00000849●●●●●●
142. 69341695 c.2626C>T p.P876S missense 0.00000847●●●●●●
143. 69343800 c.2585A>C p.K862T missense 0.00000847●●●●●●
144. 69341634 c.2687C>T p.P896L missense 0.00000846●●●●●●
145. 69341638 c.2683G>A p.V895M missense 0.00000846●●●●●●
146. 69341685 c.2636C>T p.A879V missense 0.00000845●●●●●●
147. 69341686 c.2635G>A p.A879T missense 0.00000845●●●●●●
148. 69341640 c.2681C>T p.S894F missense 0.00000845●●●●●●
149. 69341679 c.2642A>G p.Y881C missense 0.00000844●●●●●●
150. 69341649 c.2672G>C p.G891A missense 0.00000844●●●●●●
151. 69341677 c.2644T>C p.C882R missense 0.00000844●●●●●●
152. 69341659 c.2662C>T p.P888S missense 0.00000843●●●●●●
153. 69341667 c.2654G>C p.R885P missense 0.00000843●●●●●●
154. 69392397 c.106-8C>T splice site 0.00000843●●●●●●
155. 69341661 c.2660C>A p.A887D missense 0.00000843●●●●●●
156. 69356891 c.1199G>T p.R400L missense 0.00000843●●●●●●
157. 69341650 c.2671G>A p.G891S missense 0.00000843●●●●●●
158. 69358985 c.871C>G p.R291G missense 0.00000842●●●●●●
159. 69358982 c.874C>T p.R292C missense 0.00000840●●●●●●
160. 69358982 c.874C>A p.R292S missense 0.00000840●●●●●●
161. 69392387 c.108A>T splice site 0.00000837●●●●●●
162. 69358976 c.880A>G p.I294V missense 0.00000836●●●●●●
163. 69376119 c.516-6G>A splice site 0.00000835●●●●●●
164. 69358762 c.1086+8C>T splice site 0.00000833●●●●●●
165. 69445722 c.52G>C p.D18H missense 0.00000832●●●●●●
166. 69445770 c.4G>A p.D2N missense 0.00000832●●●●●●
167. 69350899 c.1621A>G p.I541V missense 0.00000831●●●●●●
168. 69445737 c.37A>G p.M13V missense 0.00000831●●●●●●
169. 69351028 c.1495-3C>T splice site 0.00000831●●●●●●
170. 69349317 c.1819-8T>C splice site 0.00000830●●●●●●
171. 69351024 c.1496G>T p.R499L missense 0.00000830●●●●●●
172. 69358770 c.1086G>A splice site 0.00000830●●●●●●
173. 69349224 c.1904T>C p.F635S missense 0.00000830●●●●●●
174. 69349314 c.1819-5C>T splice site 0.00000829●●●●●●
175. 69352274 c.1253G>C p.R418P missense 0.00000828●●●●●●
176. 69392292 c.203T>C p.L68P missense 0.00000828●●●●●●
177. 69349272 c.1856C>A p.T619K missense 0.00000828●●●●●●
178. 69352275 c.1252C>G p.R418G missense 0.00000828●●●●●●
179. 69349290 c.1838G>A p.R613Q missense 0.00000828●●●●●●
180. 69360467 c.763-3C>T splice site 0.00000828●●●●●●
181. 69351019 c.1501G>A p.E501K missense 0.00000828●●●●●●
182. 69352274 c.1253G>A p.R418Q missense 0.00000828●●●●●●
183. 69358774 c.1082T>C p.V361A missense 0.00000828●●●●●●
184. 69352178 c.1349G>T p.R450L missense 0.00000828●●●●●●
185. 69360364 c.855+8C>A splice site 0.00000827●●●●●●
186. 69345744 c.2323C>G p.L775V missense 0.00000827●●●●●●
187. 69358780 c.1076G>A p.R359K missense 0.00000827●●●●●●
188. 69356918 c.1172G>A p.R391Q missense 0.00000827●●●●●●
189. 69343855 c.2530G>C p.D844H missense 0.00000827●●●●●●
190. 69346680 c.2279G>A p.R760Q missense 0.00000827●●●●●●
191. 69360463 c.764C>T p.A255V missense 0.00000827●●●●●●
192. 69376770 c.428-11C>T splice site 0.00000827●●●●●●
193. 69392359 c.136C>T p.R46W missense 0.00000827●●●●●●
194. 69343963 c.2428-6C>T splice site 0.00000827●●●●●●
195. 69352254 c.1273G>A p.A425T missense 0.00000826●●●●●●
196. 69376763 c.428-4A>T splice site 0.00000826●●●●●●
197. 69358949 c.907G>A p.E303K missense 0.00000826●●●●●●
198. 69352244 c.1283C>T p.S428L missense 0.00000826●●●●●●
199. 69343861 c.2524A>G p.T842A missense 0.00000826●●●●●●
200. 69358787 c.1069G>C p.E357Q missense 0.00000826●●●●●●
201. 69376094 c.535T>C p.F179L missense 0.00000826●●●●●●
202. 69352248 c.1279C>T p.L427F missense 0.00000826●●●●●●
203. 69358790 c.1066T>C p.S356P missense 0.00000826●●●●●●
204. 69360389 c.838G>A p.E280K missense 0.00000825●●●●●●
205. 69343927 c.2458A>G p.I820V missense 0.00000825●●●●●●
206. 69387726 c.337G>A p.E113K missense 0.00000825●●●●●●
207. 69360446 c.781C>T p.R261C missense 0.00000825●●●●●●
208. 69352227 c.1300C>T p.L434F missense 0.00000825●●●●●●
209. 69358808 c.1048C>T p.R350W missense 0.00000825●●●●●●
210. 69346813 c.2146G>T p.G716C missense 0.00000825●●●●●●
211. 69351004 c.1516A>G p.T506A missense 0.00000825●●●●●●
212. 69345701 c.2361+5T>G splice site 0.00000825●●●●●●
213. 69343938 c.2447G>T p.R816L missense 0.00000825●●●●●●
214. 69350916 c.1604C>T p.T535I missense 0.00000825●●●●●●
215. 69371365 c.676+7G>A splice site 0.00000825●●●●●●
216. 69376079 c.550C>A p.H184N missense 0.00000825●●●●●●
217. 69356950 c.1140G>C p.E380D missense 0.00000825●●●●●●
218. 69343933 c.2452A>G p.M818V missense 0.00000825●●●●●●
219. 69356985 c.1105G>A p.G369S missense 0.00000825●●●●●●
220. 69376049 c.580G>C p.G194R missense 0.00000825●●●●●●
221. 69387830 c.233C>A p.A78D missense 0.00000825●●●●●●
222. 69392329 c.166G>A p.E56K missense 0.00000825●●●●●●
223. 69376051 c.578A>G p.Y193C missense 0.00000825●●●●●●
224. 69345700 c.2361+6C>T splice site 0.00000825●●●●●●
225. 69346690 c.2269C>T p.H757Y missense 0.00000825●●●●●●
226. 69392330 c.165C>G p.I55M missense 0.00000825●●●●●●
227. 69371405 c.643T>C p.Y215H missense 0.00000824●●●●●●
228. 69347552 c.2108A>T p.N703I missense 0.00000824●●●●●●
229. 69346795 c.2164A>T p.T722S missense 0.00000824●●●●●●
230. 69351524 c.1462G>A p.A488T missense 0.00000824●●●●●●
231. 69358906 c.950G>A p.R317Q missense 0.00000824●●●●●●
232. 69350956 c.1564A>G p.N522D missense 0.00000824●●●●●●
233. 69358876 c.980A>G p.K327R missense 0.00000824●●●●●●
234. 69349754 c.1654G>A p.E552K missense 0.00000824●●●●●●
235. 69349603 c.1805G>T p.G602V missense 0.00000824●●●●●●
236. 69371449 c.599A>T p.D200V missense 0.00000824●●●●●●
237. 69347625 c.2035G>C p.V679L missense 0.00000824●●●●●●
238. 69369232 c.724G>A p.V242M missense 0.00000824●●●●●●
239. 69346767 c.2192T>C p.V731A missense 0.00000824●●●●●●
240. 69387786 c.277delG p.Val93SerfsTer8 frameshift 0.00000824●●●●●●
241. 69343896 c.2489C>T p.T830I missense 0.00000824●●●●●●
242. 69378882 c.418T>G p.S140A missense 0.00000824●●●●●●
243. 69376674 c.513A>G p.I171M missense 0.00000824●●●●●●
244. 69356969 c.1121T>C p.V374A missense 0.00000824●●●●●●
245. 69371417 c.631G>A p.V211M missense 0.00000824●●●●●●
246. 69347570 c.2090A>G p.E697G missense 0.00000824●●●●●●
247. 69351581 c.1405T>C p.S469P missense 0.00000824●●●●●●
248. 69346705 c.2254C>T p.R752W missense 0.00000824●●●●●●
249. 69351533 c.1453A>G p.N485D missense 0.00000824●●●●●●
250. 69349702 c.1706T>C p.L569P missense 0.00000824●●●●●●
251. 69346704 c.2255G>A p.R752Q missense 0.00000824●●●●●●
252. 69358930 c.926T>A p.M309K missense 0.00000824●●●●●●
253. 69387735 c.328A>G p.I110V missense 0.00000824●●●●●●
254. 69347630 c.2030G>A p.S677N missense 0.00000824●●●●●●
255. 69369274 c.682G>C p.V228L missense 0.00000824●●●●●●
256. 69346768 c.2191G>A p.V731I missense 0.00000824●●●●●●
257. 69349714 c.1694G>A p.R565H missense 0.00000824●●●●●●
258. 69343908 c.2477T>G p.L826R missense 0.00000824●●●●●●
259. 69358880 c.976C>T p.P326S missense 0.00000824●●●●●●
260. 69378947 c.353G>C p.G118A missense 0.00000824●●●●●●
261. 69376708 c.479C>T p.P160L missense 0.00000824●●●●●●
262. 69371428 c.620C>A p.T207K missense 0.00000824●●●●●●
263. 69347580 c.2080C>T p.L694F missense 0.00000824●●●●●●
264. 69360428 c.799G>T p.A267S missense 0.00000824●●●●●●
265. 69351589 c.1397A>G p.Y466C missense 0.00000824●●●●●●
266. 69350934 c.1586T>C p.M529T missense 0.00000824●●●●●●
267. 69346786 c.2173G>A p.A725T missense 0.00000824●●●●●●
268. 69358931 c.925A>G p.M309V missense 0.00000824●●●●●●
269. 69350971 c.1549C>T p.R517W missense 0.00000824●●●●●●
270. 69349661 c.1747C>G p.H583D missense 0.00000824●●●●●●
271. 69349639 c.1769A>G p.N590S missense 0.00000824●●●●●●
272. 69356951 c.1139A>T p.E380V missense 0.00000824●●●●●●
273. 69347655 c.2005A>G p.S669G missense 0.00000824●●●●●●
274. 69378869 c.427+4G>A splice site 0.00000824●●●●●●
275. 69346773 c.2186A>G p.N729S missense 0.00000824●●●●●●
276. 69351508 c.1478G>A p.R493Q missense 0.00000824●●●●●●
277. 69358895 c.961C>T p.R321C missense 0.00000824●●●●●●
278. 69358856 c.1000C>A p.L334M missense 0.00000824●●●●●●
279. 69349715 c.1693C>T p.R565C missense 0.00000824●●●●●●
280. 69376712 c.475G>T p.A159S missense 0.00000824●●●●●●
281. 69349603 c.1805G>A p.G602D missense 0.00000824●●●●●●
282. 69378957 c.343A>G p.I115V missense 0.00000824●●●●●●
283. 69369187 c.762+7G>C splice site 0.00000824●●●●●●
284. 69371428 c.620C>T p.T207M missense 0.00000824●●●●●●
285. 69369214 c.742G>A p.A248T missense 0.00000824●●●●●●
286. 69360436 c.791A>G p.K264R missense 0.00000824●●●●●●
287. 69346767 c.2192T>A p.V731E missense 0.00000824●●●●●●
288. 69358936 c.920A>T p.H307L missense 0.00000824●●●●●●
289. 69349589 c.1818+1G>C essential splice site 0.00000824●●●●●●
290. 69356957 c.1133A>G p.Y378C missense 0.00000824●●●●●●
291. 69371375 c.673G>A p.E225K 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.