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. 236882217 c.265C>T p.R89W missense 0.00007414●●●●●●
31. 236914936 c.1823G>A p.R608Q 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. 236902707 c.982C>T p.R328W missense 0.00005766●●●●●●
42. 236882283 c.331G>A p.G111R missense 0.00005766●●●●●●
43. 236902669 c.944C>A p.A315D missense 0.00005765●●●●●●
44. 236925836 c.2602G>A p.A868T missense 0.00004954●●●●●●
45. 236925786 c.2552G>A p.R851H missense 0.00004954●●●●●●
46. 236925801 c.2567C>T p.P856L missense 0.00004953●●●●●●
47. 236914827 c.1714C>T p.R572W missense 0.00004946●●●●●●
48. 236906260 c.1172A>G p.N391S missense 0.00004943●●●●●●
49. 236918328 c.1984C>T p.R662W missense 0.00004943●●●●●●
50. 236920862 c.2231C>T p.T744M missense 0.00004942●●●●●●
51. 236918347 c.2003C>G p.T668R missense 0.00004942●●●●●●
52. 236902651 c.926C>T p.P309L 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. 236906250 c.1162T>A p.W388R missense 0.00004119●●●●●●
60. 236912494 c.1586A>G p.N529S missense 0.00004119●●●●●●
61. 236906268 c.1180C>T p.R394W 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. 236912460 c.1552C>T p.H518Y missense 0.00003296●●●●●●
74. 236924372 c.2425G>A p.V809I missense 0.00003296●●●●●●
75. 236889292 c.508A>C p.N170H missense 0.00003295●●●●●●
76. 236924360 c.2413G>A p.G805R missense 0.00003295●●●●●●
77. 236883462 c.419G>A p.R140H missense 0.00003295●●●●●●
78. 236902621 c.896G>A p.R299H missense 0.00003295●●●●●●
79. 236906280 c.1192C>T p.R398C missense 0.00003295●●●●●●
80. 236914938 c.1825A>C p.T609P missense 0.00003295●●●●●●
81. 236912532 c.1624A>G p.M542V 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. 236907974 c.1304C>T p.T435I missense 0.00002482●●●●●●
87. 236908040 c.1370G>A p.R457H missense 0.00002482●●●●●●
88. 236907995 c.1325G>A p.R442Q 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. 236924396 c.2449T>C p.F817L missense 0.00002472●●●●●●
93. 236918395 c.2051A>G p.N684S missense 0.00002472●●●●●●
94. 236923045 c.2323C>T p.H775Y missense 0.00002471●●●●●●
95. 236912514 c.1606A>G p.M536V missense 0.00002471●●●●●●
96. 236906281 c.1193G>A p.R398H missense 0.00002471●●●●●●
97. 236918380 c.2036A>G p.K679R missense 0.00002471●●●●●●
98. 236902662 c.937A>T p.M313L missense 0.00002471●●●●●●
99. 236918329 c.1985G>A p.R662Q missense 0.00002471●●●●●●
100. 236902704 c.979C>T p.R327C missense 0.00002471●●●●●●
101. 236920793 c.2162G>A p.R721H missense 0.00002471●●●●●●
102. 236918383 c.2039A>G p.Q680R missense 0.00002471●●●●●●
103. 236902624 c.899C>T p.T300M 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. 236912457 c.1549C>T p.L517F missense 0.00001648●●●●●●
122. 236914925 c.1812G>A p.M604I missense 0.00001648●●●●●●
123. 236912533 c.1625T>G p.M542R missense 0.00001648●●●●●●
124. 236918418 c.2074A>G p.I692V missense 0.00001648●●●●●●
125. 236918322 c.1978A>T p.I660F missense 0.00001648●●●●●●
126. 236912446 c.1538C>A p.T513N missense 0.00001648●●●●●●
127. 236914891 c.1778T>C p.I593T missense 0.00001648●●●●●●
128. 236918413 c.2069A>G p.N690S missense 0.00001648●●●●●●
129. 236920792 c.2161C>T p.R721C missense 0.00001647●●●●●●
130. 236912508 c.1600G>A p.G534S missense 0.00001647●●●●●●
131. 236920853 c.2222A>G p.Q741R missense 0.00001647●●●●●●
132. 236902644 c.919C>T p.R307W missense 0.00001647●●●●●●
133. 236920810 c.2179C>G p.L727V missense 0.00001647●●●●●●
134. 236906233 c.1145A>G p.E382G missense 0.00001647●●●●●●
135. 236902695 c.970C>T p.R324W missense 0.00001647●●●●●●
136. 236912502 c.1594A>T p.M532L missense 0.00001647●●●●●●
137. 236882201 c.249G>C p.R83S missense 0.00001647●●●●●●
138. 236906244 c.1156G>A p.E386K missense 0.00001647●●●●●●
139. 236889301 c.517A>G p.I173V missense 0.00001647●●●●●●
140. 236891021 c.580C>T p.R194W missense 0.00001647●●●●●●
141. 236906205 c.1117G>A p.G373S missense 0.00001647●●●●●●
142. 236902643 c.918C>A p.N306K 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. 236911035 c.1475G>A p.R492Q missense 0.00000840●●●●●●
155. 236900425 c.787G>C p.E263Q 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. 236900443 c.805A>G p.I269V missense 0.00000831●●●●●●
162. 236917376 c.1969A>T p.M657L missense 0.00000831●●●●●●
163. 236914771 c.1658G>C p.S553T missense 0.00000831●●●●●●
164. 236881176 c.145A>C p.N49H missense 0.00000831●●●●●●
165. 236899013 c.776C>T p.A259V missense 0.00000830●●●●●●
166. 236917367 c.1960C>A p.Q654K missense 0.00000829●●●●●●
167. 236899007 c.770C>T p.A257V missense 0.00000829●●●●●●
168. 236881198 c.167G>A p.G56D missense 0.00000829●●●●●●
169. 236907958 c.1288G>A p.E430K missense 0.00000829●●●●●●
170. 236917359 c.1952C>T p.P651L missense 0.00000829●●●●●●
171. 236908060 c.1390A>G p.I464V missense 0.00000828●●●●●●
172. 236908064 c.1394C>A p.A465E missense 0.00000828●●●●●●
173. 236908064 c.1394C>T p.A465V missense 0.00000828●●●●●●
174. 236925762 c.2528C>T p.P843L missense 0.00000827●●●●●●
175. 236908018 c.1348G>T p.D450Y missense 0.00000827●●●●●●
176. 236907983 c.1313G>A p.R438Q missense 0.00000827●●●●●●
177. 236907982 c.1312C>T p.R438W missense 0.00000827●●●●●●
178. 236917326 c.1919G>A p.R640H missense 0.00000827●●●●●●
179. 236908002 c.1332C>G p.H444Q missense 0.00000827●●●●●●
180. 236908012 c.1342G>C p.E448Q missense 0.00000827●●●●●●
181. 236908039 c.1369C>T p.R457C missense 0.00000827●●●●●●
182. 236907994 c.1324C>T p.R442W missense 0.00000827●●●●●●
183. 236908013 c.1343A>G p.E448G missense 0.00000827●●●●●●
184. 236908003 c.1333G>A p.E445K missense 0.00000827●●●●●●
185. 236925762 c.2528C>A p.P843Q missense 0.00000827●●●●●●
186. 236907979 c.1309G>A p.V437M missense 0.00000827●●●●●●
187. 236908040 c.1370G>T p.R457L missense 0.00000827●●●●●●
188. 236917325 c.1918C>T p.R640C missense 0.00000827●●●●●●
189. 236907998 c.1328A>T p.K443M missense 0.00000827●●●●●●
190. 236924435 c.2488C>A p.Q830K missense 0.00000826●●●●●●
191. 236924441 c.2494A>T p.I832F missense 0.00000826●●●●●●
192. 236925828 c.2594G>C p.R865T missense 0.00000826●●●●●●
193. 236925788 c.2554C>T p.R852W missense 0.00000826●●●●●●
194. 236925848 c.2614C>T p.P872S missense 0.00000826●●●●●●
195. 236925843 c.2609C>T p.S870L missense 0.00000826●●●●●●
196. 236898947 c.710C>T p.T237I missense 0.00000826●●●●●●
197. 236925849 c.2615C>A p.P872Q missense 0.00000826●●●●●●
198. 236902792 c.1067A>G p.N356S missense 0.00000825●●●●●●
199. 236917268 c.1861C>T p.R621C missense 0.00000825●●●●●●
200. 236925812 c.2578C>G p.Q860E missense 0.00000825●●●●●●
201. 236918448 c.2104A>G p.I702V missense 0.00000825●●●●●●
202. 236912430 c.1522G>A p.E508K missense 0.00000825●●●●●●
203. 236902794 c.1069C>T p.R357C missense 0.00000825●●●●●●
204. 236917272 c.1865A>G p.D622G missense 0.00000825●●●●●●
205. 236925813 c.2579A>G p.Q860R missense 0.00000825●●●●●●
206. 236924432 c.2485G>A p.E829K missense 0.00000825●●●●●●
207. 236918450 c.2106C>G p.I702M missense 0.00000825●●●●●●
208. 236925807 c.2573A>C p.Q858P missense 0.00000825●●●●●●
209. 236924426 c.2479A>G p.T827A missense 0.00000825●●●●●●
210. 236918434 c.2090G>A p.G697E missense 0.00000825●●●●●●
211. 236925810 c.2576C>T p.A859V missense 0.00000825●●●●●●
212. 236925797 c.2563C>T p.P855S missense 0.00000825●●●●●●
213. 236914816 c.1703C>G p.A568G missense 0.00000825●●●●●●
214. 236924433 c.2486A>G p.E829G missense 0.00000825●●●●●●
215. 236925821 c.2587A>C p.I863L missense 0.00000825●●●●●●
216. 236914924 c.1811T>C p.M604T missense 0.00000824●●●●●●
217. 236894563 c.646A>G p.M216V missense 0.00000824●●●●●●
218. 236912512 c.1604C>T p.A535V missense 0.00000824●●●●●●
219. 236906322 c.1234A>G p.T412A missense 0.00000824●●●●●●
220. 236906262 c.1174G>A p.E392K missense 0.00000824●●●●●●
221. 236920919 c.2288A>G p.N763S missense 0.00000824●●●●●●
222. 236920831 c.2200A>G p.T734A missense 0.00000824●●●●●●
223. 236883444 c.401T>C p.I134T missense 0.00000824●●●●●●
224. 236890982 c.541A>G p.K181E missense 0.00000824●●●●●●
225. 236912554 c.1646A>T p.E549V missense 0.00000824●●●●●●
226. 236894603 c.686T>G p.L229W missense 0.00000824●●●●●●
227. 236902621 c.896G>C p.R299P missense 0.00000824●●●●●●
228. 236914822 c.1709G>A p.G570E missense 0.00000824●●●●●●
229. 236906215 c.1127A>G p.Q376R missense 0.00000824●●●●●●
230. 236924333 c.2386C>T p.R796C missense 0.00000824●●●●●●
231. 236891052 c.611A>G p.N204S missense 0.00000824●●●●●●
232. 236920883 c.2252C>T p.T751I missense 0.00000824●●●●●●
233. 236912490 c.1582T>C p.F528L missense 0.00000824●●●●●●
234. 236891022 c.581G>A p.R194Q missense 0.00000824●●●●●●
235. 236882218 c.266G>A p.R89Q missense 0.00000824●●●●●●
236. 236902680 c.955A>G p.K319E missense 0.00000824●●●●●●
237. 236902615 c.890T>C p.I297T missense 0.00000824●●●●●●
238. 236914888 c.1775G>T p.R592I missense 0.00000824●●●●●●
239. 236920895 c.2264T>C p.M755T missense 0.00000824●●●●●●
240. 236906326 c.1238A>T p.H413L missense 0.00000824●●●●●●
241. 236924399 c.2452A>G p.M818V missense 0.00000824●●●●●●
242. 236906289 c.1201C>T p.H401Y missense 0.00000824●●●●●●
243. 236920920 c.2289C>A p.N763K missense 0.00000824●●●●●●
244. 236920840 c.2209G>A p.E737K missense 0.00000824●●●●●●
245. 236883483 c.440C>T p.S147L missense 0.00000824●●●●●●
246. 236890997 c.556C>G p.L186V missense 0.00000824●●●●●●
247. 236902728 c.1003G>T p.V335L missense 0.00000824●●●●●●
248. 236902705 c.980G>A p.R327H missense 0.00000824●●●●●●
249. 236902708 c.983G>A p.R328Q missense 0.00000824●●●●●●
250. 236918364 c.2020C>A p.Q674K missense 0.00000824●●●●●●
251. 236902624 c.899C>A p.T300K missense 0.00000824●●●●●●
252. 236914836 c.1723A>G p.I575V missense 0.00000824●●●●●●
253. 236902771 c.1046A>T p.Q349L missense 0.00000824●●●●●●
254. 236924370 c.2423C>G p.T808S missense 0.00000824●●●●●●
255. 236924334 c.2387G>A p.R796H missense 0.00000824●●●●●●
256. 236891053 c.612C>G p.N204K missense 0.00000824●●●●●●
257. 236923046 c.2324A>T p.H775L missense 0.00000824●●●●●●
258. 236920855 c.2224A>T p.I742F missense 0.00000824●●●●●●
259. 236912507 c.1599G>C p.E533D missense 0.00000824●●●●●●
260. 236891025 c.584C>T p.P195L missense 0.00000824●●●●●●
261. 236882227 c.275T>C p.M92T missense 0.00000824●●●●●●
262. 236889293 c.509A>T p.N170I missense 0.00000824●●●●●●
263. 236882253 c.301A>G p.N101D missense 0.00000824●●●●●●
264. 236920908 c.2277A>T p.R759S missense 0.00000824●●●●●●
265. 236906203 c.1115C>G p.A372G missense 0.00000824●●●●●●
266. 236914906 c.1793C>T p.P598L missense 0.00000824●●●●●●
267. 236914935 c.1822C>T p.R608W missense 0.00000824●●●●●●
268. 236912515 c.1607T>C p.M536T missense 0.00000824●●●●●●
269. 236906269 c.1181G>A p.R394Q missense 0.00000824●●●●●●
270. 236920842 c.2211G>T p.E737D missense 0.00000824●●●●●●
271. 236889235 c.451A>G p.T151A missense 0.00000824●●●●●●
272. 236912461 c.1553A>C p.H518P missense 0.00000824●●●●●●
273. 236891006 c.565C>G p.L189V missense 0.00000824●●●●●●
274. 236906196 c.1108G>A p.D370N missense 0.00000824●●●●●●
275. 236923058 c.2336G>A p.R779K missense 0.00000824●●●●●●
276. 236902734 c.1009G>C p.E337Q missense 0.00000824●●●●●●
277. 236902719 c.994C>T p.P332S missense 0.00000824●●●●●●
278. 236918421 c.2077G>A p.D693N missense 0.00000824●●●●●●
279. 236914861 c.1748A>C p.E583A missense 0.00000824●●●●●●
280. 236902639 c.914A>C p.E305A missense 0.00000824●●●●●●
281. 236914884 c.1771A>G p.I591V missense 0.00000824●●●●●●
282. 236914851 c.1738A>G p.N580D missense 0.00000824●●●●●●
283. 236912511 c.1603G>T p.A535S missense 0.00000824●●●●●●
284. 236891030 c.589C>T p.L197F missense 0.00000824●●●●●●
285. 236906320 c.1232C>T p.S411L missense 0.00000824●●●●●●
286. 236924383 c.2436A>T p.Q812H missense 0.00000824●●●●●●
287. 236920795 c.2164G>A p.V722I missense 0.00000824●●●●●●
288. 236924358 c.2411A>G p.N804S missense 0.00000824●●●●●●
289. 236894546 c.629G>A p.G210E missense 0.00000824●●●●●●
290. 236920857 c.2226C>G p.I742M missense 0.00000824●●●●●●
291. 236882229 c.277C>T p.R93W missense 0.00000824●●●●●●
292. 236902621 c.896G>T p.R299L missense 0.00000824●●●●●●
293. 236912449 c.1541T>C p.I514T missense 0.00000824●●●●●●
294. 236882230 c.278G>A p.R93Q missense 0.00000824●●●●●●
295. 236920844 c.2213T>A p.V738E missense 0.00000824●●●●●●
296. 236912481 c.1573G>A p.A525T missense 0.00000824●●●●●●
297. 236912448 c.1540A>G p.I514V missense 0.00000824●●●●●●
298. 236914917 c.1804G>A p.V602I missense 0.00000824●●●●●●
299. 236923077 c.2355G>T p.M785I missense 0.00000824●●●●●●
300. 236902764 c.1039A>T p.T347S missense 0.00000824●●●●●●
301. 236902726 c.1001A>G p.K334R 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.