ACTN2 missense variants in ExAC

ACTN2 gene summary
ACTN2 variants in DCM, HCM

The table below lists the ACTN2 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. 236910983 c.1423G>A p.D475N missense 0.00722922●●●●●●
2. 236914923 c.1810A>G p.M604V missense 0.00584863●●●●●●
3. 236914861 c.1748A>G p.E583G missense 0.00088151●●●●●●
4. 236907968 c.1298C>T p.S433L missense 0.00079502●●●●●●
5. 236849999 c.26A>G p.Q9R missense 0.00070442●●●●●●
6. 236902618 c.893G>A p.R298H missense 0.00055192●●●●●●
7. 236910986 c.1426G>A p.A476T missense 0.00049367●●●●●●
8. 236920792 c.2161C>A p.R721S missense 0.00037891●●●●●●
9. 236907962 c.1292C>T p.S431L missense 0.00035640●●●●●●
10. 236918491 c.2147C>T p.T716M missense 0.00033175●●●●●●
11. 236917271 c.1864G>A p.D622N missense 0.00029691●●●●●●
12. 236911012 c.1452G>C p.Q484H missense 0.00026590●●●●●●
13. 236917337 c.1930G>A p.A644T missense 0.00023197●●●●●●
14. 236911044 c.1484C>T p.T495M missense 0.00021984●●●●●●
15. 236925821 c.2587A>G p.I863V missense 0.00016506●●●●●●
16. 236925911 c.2677G>A p.D893N missense 0.00015590●●●●●●
17. 236902765 c.1040C>T p.T347M missense 0.00014830●●●●●●
18. 236925785 c.2551C>T p.R851C missense 0.00013211●●●●●●
19. 236912427 c.1519A>G p.M507V missense 0.00012380●●●●●●
20. 236849995 c.22G>A p.V8M missense 0.00011882●●●●●●
21. 236914886 c.1773C>G p.I591M missense 0.00011533●●●●●●
22. 236924444 c.2497G>A p.A833T missense 0.00010740●●●●●●
23. 236906323 c.1235C>T p.T412M missense 0.00010715●●●●●●
24. 236925893 c.2659G>A p.A887T missense 0.00010077●●●●●●
25. 236894607 c.690T>A p.D230E missense 0.00009885●●●●●●
26. 236902672 c.947T>C p.M316T missense 0.00009060●●●●●●
27. 236890997 c.556C>T p.L186F missense 0.00008237●●●●●●
28. 236910986 c.1426G>T p.A476S missense 0.00007530●●●●●●
29. 236911004 c.1444C>T p.R482W missense 0.00007480●●●●●●
30. 236914936 c.1823G>A p.R608Q missense 0.00007414●●●●●●
31. 236882217 c.265C>T p.R89W missense 0.00007414●●●●●●
32. 236902831 c.1106C>T p.S369L missense 0.00006795●●●●●●
33. 236907965 c.1295C>T p.A432V missense 0.00006629●●●●●●
34. 236881197 c.166G>A p.G56S missense 0.00006628●●●●●●
35. 236917299 c.1892G>A p.R631H missense 0.00006607●●●●●●
36. 236925789 c.2555G>A p.R852Q missense 0.00006604●●●●●●
37. 236924370 c.2423C>T p.T808I missense 0.00006591●●●●●●
38. 236907977 c.1307A>C p.E436A missense 0.00005791●●●●●●
39. 236925774 c.2540C>T p.A847V missense 0.00005783●●●●●●
40. 236914821 c.1708G>A p.G570R missense 0.00005771●●●●●●
41. 236882283 c.331G>A p.G111R missense 0.00005766●●●●●●
42. 236902707 c.982C>T p.R328W missense 0.00005766●●●●●●
43. 236902669 c.944C>A p.A315D missense 0.00005765●●●●●●
44. 236925786 c.2552G>A p.R851H missense 0.00004954●●●●●●
45. 236925836 c.2602G>A p.A868T missense 0.00004954●●●●●●
46. 236925801 c.2567C>T p.P856L missense 0.00004953●●●●●●
47. 236914827 c.1714C>T p.R572W missense 0.00004946●●●●●●
48. 236918328 c.1984C>T p.R662W missense 0.00004943●●●●●●
49. 236906260 c.1172A>G p.N391S missense 0.00004943●●●●●●
50. 236902651 c.926C>T p.P309L missense 0.00004942●●●●●●
51. 236920862 c.2231C>T p.T744M missense 0.00004942●●●●●●
52. 236918347 c.2003C>G p.T668R missense 0.00004942●●●●●●
53. 236891016 c.575G>A p.R192Q missense 0.00004942●●●●●●
54. 236850027 c.54G>C p.E18D missense 0.00004257●●●●●●
55. 236910993 c.1433A>T p.N478I missense 0.00004167●●●●●●
56. 236908028 c.1358C>T p.A453V missense 0.00004135●●●●●●
57. 236917316 c.1909C>T p.R637C missense 0.00004135●●●●●●
58. 236924454 c.2507G>A p.R836Q missense 0.00004132●●●●●●
59. 236912494 c.1586A>G p.N529S missense 0.00004119●●●●●●
60. 236906268 c.1180C>T p.R394W missense 0.00004119●●●●●●
61. 236906250 c.1162T>A p.W388R missense 0.00004119●●●●●●
62. 236920825 c.2194G>A p.A732T missense 0.00004118●●●●●●
63. 236920909 c.2278G>A p.A760T missense 0.00004118●●●●●●
64. 236925912 c.2678A>G p.D893G missense 0.00003463●●●●●●
65. 236902806 c.1081A>G p.M361V missense 0.00003318●●●●●●
66. 236918473 c.2129A>G p.N710S missense 0.00003310●●●●●●
67. 236907977 c.1307A>T p.E436V missense 0.00003309●●●●●●
68. 236918452 c.2108A>T p.Q703L missense 0.00003302●●●●●●
69. 236925803 c.2569G>C p.D857H missense 0.00003301●●●●●●
70. 236924430 c.2483C>T p.A828V missense 0.00003301●●●●●●
71. 236918426 c.2082G>C p.K694N missense 0.00003298●●●●●●
72. 236914828 c.1715G>A p.R572Q missense 0.00003297●●●●●●
73. 236924372 c.2425G>A p.V809I missense 0.00003296●●●●●●
74. 236912460 c.1552C>T p.H518Y missense 0.00003296●●●●●●
75. 236924360 c.2413G>A p.G805R missense 0.00003295●●●●●●
76. 236902621 c.896G>A p.R299H missense 0.00003295●●●●●●
77. 236914938 c.1825A>C p.T609P missense 0.00003295●●●●●●
78. 236912532 c.1624A>G p.M542V missense 0.00003295●●●●●●
79. 236889292 c.508A>C p.N170H missense 0.00003295●●●●●●
80. 236906280 c.1192C>T p.R398C missense 0.00003295●●●●●●
81. 236883462 c.419G>A p.R140H missense 0.00003295●●●●●●
82. 236925902 c.2668G>A p.G890R missense 0.00002553●●●●●●
83. 236911005 c.1445G>A p.R482Q missense 0.00002493●●●●●●
84. 236907958 c.1288G>C p.E430Q missense 0.00002488●●●●●●
85. 236917352 c.1945A>G p.I649V missense 0.00002485●●●●●●
86. 236908040 c.1370G>A p.R457H missense 0.00002482●●●●●●
87. 236907995 c.1325G>A p.R442Q missense 0.00002482●●●●●●
88. 236907974 c.1304C>T p.T435I missense 0.00002482●●●●●●
89. 236908018 c.1348G>A p.D450N missense 0.00002481●●●●●●
90. 236917269 c.1862G>A p.R621H missense 0.00002474●●●●●●
91. 236902783 c.1058G>A p.R353Q missense 0.00002473●●●●●●
92. 236918395 c.2051A>G p.N684S missense 0.00002472●●●●●●
93. 236924396 c.2449T>C p.F817L missense 0.00002472●●●●●●
94. 236912514 c.1606A>G p.M536V missense 0.00002471●●●●●●
95. 236906281 c.1193G>A p.R398H missense 0.00002471●●●●●●
96. 236902624 c.899C>T p.T300M missense 0.00002471●●●●●●
97. 236918380 c.2036A>G p.K679R missense 0.00002471●●●●●●
98. 236918329 c.1985G>A p.R662Q missense 0.00002471●●●●●●
99. 236902662 c.937A>T p.M313L missense 0.00002471●●●●●●
100. 236918383 c.2039A>G p.Q680R missense 0.00002471●●●●●●
101. 236902704 c.979C>T p.R327C missense 0.00002471●●●●●●
102. 236920793 c.2162G>A p.R721H missense 0.00002471●●●●●●
103. 236923045 c.2323C>T p.H775Y missense 0.00002471●●●●●●
104. 236850086 c.113A>G p.K38R missense 0.00001902●●●●●●
105. 236925882 c.2648C>T p.A883V missense 0.00001667●●●●●●
106. 236907941 c.1271T>C p.L424S missense 0.00001664●●●●●●
107. 236925878 c.2644G>A p.A882T missense 0.00001663●●●●●●
108. 236917353 c.1946T>C p.I649T missense 0.00001657●●●●●●
109. 236918482 c.2138C>T p.T713M missense 0.00001657●●●●●●
110. 236908063 c.1393G>A p.A465T missense 0.00001656●●●●●●
111. 236925863 c.2629G>T p.G877C missense 0.00001655●●●●●●
112. 236908054 c.1384G>T p.A462S missense 0.00001655●●●●●●
113. 236898940 c.703G>A p.V235M missense 0.00001654●●●●●●
114. 236917313 c.1906G>A p.E636K missense 0.00001654●●●●●●
115. 236908007 c.1337C>T p.A446V missense 0.00001654●●●●●●
116. 236902795 c.1070G>A p.R357H missense 0.00001651●●●●●●
117. 236898982 c.745G>A p.V249I missense 0.00001651●●●●●●
118. 236924429 c.2482G>A p.A828T missense 0.00001650●●●●●●
119. 236902782 c.1057C>T p.R353W missense 0.00001649●●●●●●
120. 236906327 c.1239C>G p.H413Q missense 0.00001649●●●●●●
121. 236912533 c.1625T>G p.M542R missense 0.00001648●●●●●●
122. 236918418 c.2074A>G p.I692V missense 0.00001648●●●●●●
123. 236918322 c.1978A>T p.I660F missense 0.00001648●●●●●●
124. 236912446 c.1538C>A p.T513N missense 0.00001648●●●●●●
125. 236914891 c.1778T>C p.I593T missense 0.00001648●●●●●●
126. 236918413 c.2069A>G p.N690S missense 0.00001648●●●●●●
127. 236912457 c.1549C>T p.L517F missense 0.00001648●●●●●●
128. 236914925 c.1812G>A p.M604I missense 0.00001648●●●●●●
129. 236920810 c.2179C>G p.L727V missense 0.00001647●●●●●●
130. 236902644 c.919C>T p.R307W missense 0.00001647●●●●●●
131. 236906233 c.1145A>G p.E382G missense 0.00001647●●●●●●
132. 236912508 c.1600G>A p.G534S missense 0.00001647●●●●●●
133. 236882201 c.249G>C p.R83S missense 0.00001647●●●●●●
134. 236902695 c.970C>T p.R324W missense 0.00001647●●●●●●
135. 236906244 c.1156G>A p.E386K missense 0.00001647●●●●●●
136. 236906205 c.1117G>A p.G373S missense 0.00001647●●●●●●
137. 236889301 c.517A>G p.I173V missense 0.00001647●●●●●●
138. 236920792 c.2161C>T p.R721C missense 0.00001647●●●●●●
139. 236902643 c.918C>A p.N306K missense 0.00001647●●●●●●
140. 236891021 c.580C>T p.R194W missense 0.00001647●●●●●●
141. 236920853 c.2222A>G p.Q741R missense 0.00001647●●●●●●
142. 236912502 c.1594A>T p.M532L missense 0.00001647●●●●●●
143. 236850095 c.122G>A p.R41K missense 0.00001026●●●●●●
144. 236881263 c.232G>T p.V78F missense 0.00000902●●●●●●
145. 236850058 c.85G>A p.D29N missense 0.00000874●●●●●●
146. 236850052 c.79G>A p.D27N missense 0.00000867●●●●●●
147. 236925911 c.2677G>T p.D893Y missense 0.00000866●●●●●●
148. 236850032 c.59T>C p.M20T missense 0.00000853●●●●●●
149. 236849979 c.6C>A p.N2K missense 0.00000852●●●●●●
150. 236849985 c.12A>G p.I4M missense 0.00000850●●●●●●
151. 236850019 c.46G>A p.E16K missense 0.00000850●●●●●●
152. 236910975 c.1415A>T p.D472V missense 0.00000849●●●●●●
153. 236902824 c.1099A>G p.M367V missense 0.00000841●●●●●●
154. 236900425 c.787G>C p.E263Q missense 0.00000840●●●●●●
155. 236911035 c.1475G>A p.R492Q missense 0.00000840●●●●●●
156. 236925890 c.2656T>C p.S886P missense 0.00000836●●●●●●
157. 236902815 c.1090G>A p.E364K missense 0.00000834●●●●●●
158. 236907936 c.1266G>C p.Q422H missense 0.00000834●●●●●●
159. 236899019 c.782A>T p.Q261L missense 0.00000833●●●●●●
160. 236881224 c.193G>A p.D65N missense 0.00000832●●●●●●
161. 236881176 c.145A>C p.N49H missense 0.00000831●●●●●●
162. 236914771 c.1658G>C p.S553T missense 0.00000831●●●●●●
163. 236900443 c.805A>G p.I269V missense 0.00000831●●●●●●
164. 236917376 c.1969A>T p.M657L missense 0.00000831●●●●●●
165. 236899013 c.776C>T p.A259V missense 0.00000830●●●●●●
166. 236899007 c.770C>T p.A257V missense 0.00000829●●●●●●
167. 236907958 c.1288G>A p.E430K missense 0.00000829●●●●●●
168. 236917359 c.1952C>T p.P651L missense 0.00000829●●●●●●
169. 236881198 c.167G>A p.G56D missense 0.00000829●●●●●●
170. 236917367 c.1960C>A p.Q654K missense 0.00000829●●●●●●
171. 236908064 c.1394C>A p.A465E missense 0.00000828●●●●●●
172. 236908064 c.1394C>T p.A465V missense 0.00000828●●●●●●
173. 236908060 c.1390A>G p.I464V missense 0.00000828●●●●●●
174. 236908039 c.1369C>T p.R457C missense 0.00000827●●●●●●
175. 236907994 c.1324C>T p.R442W missense 0.00000827●●●●●●
176. 236907982 c.1312C>T p.R438W missense 0.00000827●●●●●●
177. 236908003 c.1333G>A p.E445K missense 0.00000827●●●●●●
178. 236908013 c.1343A>G p.E448G missense 0.00000827●●●●●●
179. 236907979 c.1309G>A p.V437M missense 0.00000827●●●●●●
180. 236908040 c.1370G>T p.R457L missense 0.00000827●●●●●●
181. 236925762 c.2528C>A p.P843Q missense 0.00000827●●●●●●
182. 236917325 c.1918C>T p.R640C missense 0.00000827●●●●●●
183. 236907998 c.1328A>T p.K443M missense 0.00000827●●●●●●
184. 236908018 c.1348G>T p.D450Y missense 0.00000827●●●●●●
185. 236907983 c.1313G>A p.R438Q missense 0.00000827●●●●●●
186. 236925762 c.2528C>T p.P843L missense 0.00000827●●●●●●
187. 236908012 c.1342G>C p.E448Q missense 0.00000827●●●●●●
188. 236917326 c.1919G>A p.R640H missense 0.00000827●●●●●●
189. 236908002 c.1332C>G p.H444Q missense 0.00000827●●●●●●
190. 236924441 c.2494A>T p.I832F missense 0.00000826●●●●●●
191. 236925828 c.2594G>C p.R865T missense 0.00000826●●●●●●
192. 236925788 c.2554C>T p.R852W missense 0.00000826●●●●●●
193. 236925843 c.2609C>T p.S870L missense 0.00000826●●●●●●
194. 236925848 c.2614C>T p.P872S missense 0.00000826●●●●●●
195. 236898947 c.710C>T p.T237I missense 0.00000826●●●●●●
196. 236925849 c.2615C>A p.P872Q missense 0.00000826●●●●●●
197. 236924435 c.2488C>A p.Q830K missense 0.00000826●●●●●●
198. 236912430 c.1522G>A p.E508K missense 0.00000825●●●●●●
199. 236925812 c.2578C>G p.Q860E missense 0.00000825●●●●●●
200. 236917272 c.1865A>G p.D622G missense 0.00000825●●●●●●
201. 236902794 c.1069C>T p.R357C missense 0.00000825●●●●●●
202. 236918450 c.2106C>G p.I702M missense 0.00000825●●●●●●
203. 236925813 c.2579A>G p.Q860R missense 0.00000825●●●●●●
204. 236924432 c.2485G>A p.E829K missense 0.00000825●●●●●●
205. 236918434 c.2090G>A p.G697E missense 0.00000825●●●●●●
206. 236925807 c.2573A>C p.Q858P missense 0.00000825●●●●●●
207. 236924426 c.2479A>G p.T827A missense 0.00000825●●●●●●
208. 236914816 c.1703C>G p.A568G missense 0.00000825●●●●●●
209. 236925810 c.2576C>T p.A859V missense 0.00000825●●●●●●
210. 236925797 c.2563C>T p.P855S missense 0.00000825●●●●●●
211. 236917268 c.1861C>T p.R621C missense 0.00000825●●●●●●
212. 236924433 c.2486A>G p.E829G missense 0.00000825●●●●●●
213. 236902792 c.1067A>G p.N356S missense 0.00000825●●●●●●
214. 236918448 c.2104A>G p.I702V missense 0.00000825●●●●●●
215. 236925821 c.2587A>C p.I863L missense 0.00000825●●●●●●
216. 236920895 c.2264T>C p.M755T missense 0.00000824●●●●●●
217. 236906215 c.1127A>G p.Q376R missense 0.00000824●●●●●●
218. 236890982 c.541A>G p.K181E missense 0.00000824●●●●●●
219. 236889235 c.451A>G p.T151A missense 0.00000824●●●●●●
220. 236920919 c.2288A>G p.N763S missense 0.00000824●●●●●●
221. 236912449 c.1541T>C p.I514T missense 0.00000824●●●●●●
222. 236920840 c.2209G>A p.E737K missense 0.00000824●●●●●●
223. 236918364 c.2020C>A p.Q674K missense 0.00000824●●●●●●
224. 236902680 c.955A>G p.K319E missense 0.00000824●●●●●●
225. 236902615 c.890T>C p.I297T missense 0.00000824●●●●●●
226. 236891052 c.611A>G p.N204S missense 0.00000824●●●●●●
227. 236906289 c.1201C>T p.H401Y missense 0.00000824●●●●●●
228. 236891022 c.581G>A p.R194Q missense 0.00000824●●●●●●
229. 236920883 c.2252C>T p.T751I missense 0.00000824●●●●●●
230. 236924333 c.2386C>T p.R796C missense 0.00000824●●●●●●
231. 236914836 c.1723A>G p.I575V missense 0.00000824●●●●●●
232. 236906326 c.1238A>T p.H413L missense 0.00000824●●●●●●
233. 236920855 c.2224A>T p.I742F missense 0.00000824●●●●●●
234. 236912507 c.1599G>C p.E533D missense 0.00000824●●●●●●
235. 236882229 c.277C>T p.R93W missense 0.00000824●●●●●●
236. 236882253 c.301A>G p.N101D missense 0.00000824●●●●●●
237. 236902728 c.1003G>T p.V335L missense 0.00000824●●●●●●
238. 236902708 c.983G>A p.R328Q missense 0.00000824●●●●●●
239. 236894603 c.686T>G p.L229W missense 0.00000824●●●●●●
240. 236902624 c.899C>A p.T300K missense 0.00000824●●●●●●
241. 236924399 c.2452A>G p.M818V missense 0.00000824●●●●●●
242. 236914935 c.1822C>T p.R608W missense 0.00000824●●●●●●
243. 236914906 c.1793C>T p.P598L missense 0.00000824●●●●●●
244. 236902705 c.980G>A p.R327H missense 0.00000824●●●●●●
245. 236920920 c.2289C>A p.N763K missense 0.00000824●●●●●●
246. 236912515 c.1607T>C p.M536T missense 0.00000824●●●●●●
247. 236890997 c.556C>G p.L186V missense 0.00000824●●●●●●
248. 236906269 c.1181G>A p.R394Q missense 0.00000824●●●●●●
249. 236920842 c.2211G>T p.E737D missense 0.00000824●●●●●●
250. 236912461 c.1553A>C p.H518P missense 0.00000824●●●●●●
251. 236914861 c.1748A>C p.E583A missense 0.00000824●●●●●●
252. 236918421 c.2077G>A p.D693N missense 0.00000824●●●●●●
253. 236924334 c.2387G>A p.R796H missense 0.00000824●●●●●●
254. 236914851 c.1738A>G p.N580D missense 0.00000824●●●●●●
255. 236891053 c.612C>G p.N204K missense 0.00000824●●●●●●
256. 236891025 c.584C>T p.P195L missense 0.00000824●●●●●●
257. 236923046 c.2324A>T p.H775L missense 0.00000824●●●●●●
258. 236924370 c.2423C>G p.T808S missense 0.00000824●●●●●●
259. 236883444 c.401T>C p.I134T missense 0.00000824●●●●●●
260. 236920795 c.2164G>A p.V722I missense 0.00000824●●●●●●
261. 236920908 c.2277A>T p.R759S missense 0.00000824●●●●●●
262. 236920857 c.2226C>G p.I742M missense 0.00000824●●●●●●
263. 236912511 c.1603G>T p.A535S missense 0.00000824●●●●●●
264. 236906196 c.1108G>A p.D370N missense 0.00000824●●●●●●
265. 236889293 c.509A>T p.N170I missense 0.00000824●●●●●●
266. 236902734 c.1009G>C p.E337Q missense 0.00000824●●●●●●
267. 236902719 c.994C>T p.P332S missense 0.00000824●●●●●●
268. 236902639 c.914A>C p.E305A missense 0.00000824●●●●●●
269. 236923058 c.2336G>A p.R779K missense 0.00000824●●●●●●
270. 236906320 c.1232C>T p.S411L missense 0.00000824●●●●●●
271. 236891006 c.565C>G p.L189V missense 0.00000824●●●●●●
272. 236882230 c.278G>A p.R93Q missense 0.00000824●●●●●●
273. 236920844 c.2213T>A p.V738E missense 0.00000824●●●●●●
274. 236912481 c.1573G>A p.A525T missense 0.00000824●●●●●●
275. 236912448 c.1540A>G p.I514V missense 0.00000824●●●●●●
276. 236882218 c.266G>A p.R89Q missense 0.00000824●●●●●●
277. 236914917 c.1804G>A p.V602I missense 0.00000824●●●●●●
278. 236906203 c.1115C>G p.A372G missense 0.00000824●●●●●●
279. 236902771 c.1046A>T p.Q349L missense 0.00000824●●●●●●
280. 236902621 c.896G>T p.R299L missense 0.00000824●●●●●●
281. 236924383 c.2436A>T p.Q812H missense 0.00000824●●●●●●
282. 236914924 c.1811T>C p.M604T missense 0.00000824●●●●●●
283. 236924358 c.2411A>G p.N804S missense 0.00000824●●●●●●
284. 236894546 c.629G>A p.G210E missense 0.00000824●●●●●●
285. 236891030 c.589C>T p.L197F missense 0.00000824●●●●●●
286. 236912512 c.1604C>T p.A535V missense 0.00000824●●●●●●
287. 236883483 c.440C>T p.S147L missense 0.00000824●●●●●●
288. 236912554 c.1646A>T p.E549V missense 0.00000824●●●●●●
289. 236902726 c.1001A>G p.K334R missense 0.00000824●●●●●●
290. 236920831 c.2200A>G p.T734A missense 0.00000824●●●●●●
291. 236902764 c.1039A>T p.T347S missense 0.00000824●●●●●●
292. 236906262 c.1174G>A p.E392K missense 0.00000824●●●●●●
293. 236923077 c.2355G>T p.M785I missense 0.00000824●●●●●●
294. 236914822 c.1709G>A p.G570E missense 0.00000824●●●●●●
295. 236906322 c.1234A>G p.T412A missense 0.00000824●●●●●●
296. 236914884 c.1771A>G p.I591V missense 0.00000824●●●●●●
297. 236912490 c.1582T>C p.F528L missense 0.00000824●●●●●●
298. 236882227 c.275T>C p.M92T missense 0.00000824●●●●●●
299. 236902621 c.896G>C p.R299P missense 0.00000824●●●●●●
300. 236914888 c.1775G>T p.R592I missense 0.00000824●●●●●●
301. 236894563 c.646A>G p.M216V 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.