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. 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. 236920862 c.2231C>T p.T744M missense 0.00004942●●●●●●
51. 236918347 c.2003C>G p.T668R missense 0.00004942●●●●●●
52. 236891016 c.575G>A p.R192Q missense 0.00004942●●●●●●
53. 236902651 c.926C>T p.P309L missense 0.00004942●●●●●●
54. 236850027 c.54G>C p.E18D missense 0.00004257●●●●●●
55. 236910993 c.1433A>T p.N478I missense 0.00004167●●●●●●
56. 236917316 c.1909C>T p.R637C missense 0.00004135●●●●●●
57. 236908028 c.1358C>T p.A453V 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. 236920909 c.2278G>A p.A760T missense 0.00004118●●●●●●
63. 236920825 c.2194G>A p.A732T 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. 236914938 c.1825A>C p.T609P missense 0.00003295●●●●●●
76. 236912532 c.1624A>G p.M542V missense 0.00003295●●●●●●
77. 236889292 c.508A>C p.N170H missense 0.00003295●●●●●●
78. 236906280 c.1192C>T p.R398C missense 0.00003295●●●●●●
79. 236883462 c.419G>A p.R140H missense 0.00003295●●●●●●
80. 236924360 c.2413G>A p.G805R missense 0.00003295●●●●●●
81. 236902621 c.896G>A p.R299H 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. 236918329 c.1985G>A p.R662Q missense 0.00002471●●●●●●
95. 236902662 c.937A>T p.M313L missense 0.00002471●●●●●●
96. 236918383 c.2039A>G p.Q680R missense 0.00002471●●●●●●
97. 236902704 c.979C>T p.R327C missense 0.00002471●●●●●●
98. 236920793 c.2162G>A p.R721H missense 0.00002471●●●●●●
99. 236923045 c.2323C>T p.H775Y missense 0.00002471●●●●●●
100. 236912514 c.1606A>G p.M536V missense 0.00002471●●●●●●
101. 236906281 c.1193G>A p.R398H missense 0.00002471●●●●●●
102. 236902624 c.899C>T p.T300M missense 0.00002471●●●●●●
103. 236918380 c.2036A>G p.K679R 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. 236908007 c.1337C>T p.A446V missense 0.00001654●●●●●●
114. 236898940 c.703G>A p.V235M missense 0.00001654●●●●●●
115. 236917313 c.1906G>A p.E636K missense 0.00001654●●●●●●
116. 236898982 c.745G>A p.V249I missense 0.00001651●●●●●●
117. 236902795 c.1070G>A p.R357H 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. 236918413 c.2069A>G p.N690S missense 0.00001648●●●●●●
122. 236912457 c.1549C>T p.L517F missense 0.00001648●●●●●●
123. 236914925 c.1812G>A p.M604I missense 0.00001648●●●●●●
124. 236912533 c.1625T>G p.M542R missense 0.00001648●●●●●●
125. 236918418 c.2074A>G p.I692V missense 0.00001648●●●●●●
126. 236918322 c.1978A>T p.I660F missense 0.00001648●●●●●●
127. 236912446 c.1538C>A p.T513N missense 0.00001648●●●●●●
128. 236914891 c.1778T>C p.I593T missense 0.00001648●●●●●●
129. 236906244 c.1156G>A p.E386K missense 0.00001647●●●●●●
130. 236906205 c.1117G>A p.G373S missense 0.00001647●●●●●●
131. 236889301 c.517A>G p.I173V missense 0.00001647●●●●●●
132. 236920792 c.2161C>T p.R721C missense 0.00001647●●●●●●
133. 236902643 c.918C>A p.N306K missense 0.00001647●●●●●●
134. 236891021 c.580C>T p.R194W missense 0.00001647●●●●●●
135. 236920853 c.2222A>G p.Q741R missense 0.00001647●●●●●●
136. 236912502 c.1594A>T p.M532L missense 0.00001647●●●●●●
137. 236920810 c.2179C>G p.L727V missense 0.00001647●●●●●●
138. 236902644 c.919C>T p.R307W missense 0.00001647●●●●●●
139. 236906233 c.1145A>G p.E382G missense 0.00001647●●●●●●
140. 236912508 c.1600G>A p.G534S missense 0.00001647●●●●●●
141. 236902695 c.970C>T p.R324W missense 0.00001647●●●●●●
142. 236882201 c.249G>C p.R83S 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. 236881176 c.145A>C p.N49H missense 0.00000831●●●●●●
164. 236914771 c.1658G>C p.S553T missense 0.00000831●●●●●●
165. 236899013 c.776C>T p.A259V missense 0.00000830●●●●●●
166. 236917359 c.1952C>T p.P651L missense 0.00000829●●●●●●
167. 236881198 c.167G>A p.G56D missense 0.00000829●●●●●●
168. 236917367 c.1960C>A p.Q654K missense 0.00000829●●●●●●
169. 236899007 c.770C>T p.A257V missense 0.00000829●●●●●●
170. 236907958 c.1288G>A p.E430K missense 0.00000829●●●●●●
171. 236908064 c.1394C>T p.A465V missense 0.00000828●●●●●●
172. 236908060 c.1390A>G p.I464V missense 0.00000828●●●●●●
173. 236908064 c.1394C>A p.A465E missense 0.00000828●●●●●●
174. 236907979 c.1309G>A p.V437M missense 0.00000827●●●●●●
175. 236908040 c.1370G>T p.R457L missense 0.00000827●●●●●●
176. 236917325 c.1918C>T p.R640C missense 0.00000827●●●●●●
177. 236907998 c.1328A>T p.K443M missense 0.00000827●●●●●●
178. 236925762 c.2528C>A p.P843Q missense 0.00000827●●●●●●
179. 236908018 c.1348G>T p.D450Y missense 0.00000827●●●●●●
180. 236907983 c.1313G>A p.R438Q missense 0.00000827●●●●●●
181. 236925762 c.2528C>T p.P843L missense 0.00000827●●●●●●
182. 236908012 c.1342G>C p.E448Q missense 0.00000827●●●●●●
183. 236917326 c.1919G>A p.R640H missense 0.00000827●●●●●●
184. 236908002 c.1332C>G p.H444Q missense 0.00000827●●●●●●
185. 236908039 c.1369C>T p.R457C missense 0.00000827●●●●●●
186. 236907982 c.1312C>T p.R438W missense 0.00000827●●●●●●
187. 236907994 c.1324C>T p.R442W missense 0.00000827●●●●●●
188. 236908013 c.1343A>G p.E448G missense 0.00000827●●●●●●
189. 236908003 c.1333G>A p.E445K missense 0.00000827●●●●●●
190. 236898947 c.710C>T p.T237I missense 0.00000826●●●●●●
191. 236925849 c.2615C>A p.P872Q missense 0.00000826●●●●●●
192. 236924435 c.2488C>A p.Q830K missense 0.00000826●●●●●●
193. 236924441 c.2494A>T p.I832F missense 0.00000826●●●●●●
194. 236925828 c.2594G>C p.R865T missense 0.00000826●●●●●●
195. 236925788 c.2554C>T p.R852W missense 0.00000826●●●●●●
196. 236925843 c.2609C>T p.S870L missense 0.00000826●●●●●●
197. 236925848 c.2614C>T p.P872S missense 0.00000826●●●●●●
198. 236925807 c.2573A>C p.Q858P missense 0.00000825●●●●●●
199. 236924426 c.2479A>G p.T827A missense 0.00000825●●●●●●
200. 236914816 c.1703C>G p.A568G missense 0.00000825●●●●●●
201. 236925810 c.2576C>T p.A859V missense 0.00000825●●●●●●
202. 236925797 c.2563C>T p.P855S missense 0.00000825●●●●●●
203. 236924433 c.2486A>G p.E829G missense 0.00000825●●●●●●
204. 236917268 c.1861C>T p.R621C missense 0.00000825●●●●●●
205. 236902792 c.1067A>G p.N356S missense 0.00000825●●●●●●
206. 236925821 c.2587A>C p.I863L missense 0.00000825●●●●●●
207. 236918448 c.2104A>G p.I702V missense 0.00000825●●●●●●
208. 236912430 c.1522G>A p.E508K missense 0.00000825●●●●●●
209. 236925812 c.2578C>G p.Q860E missense 0.00000825●●●●●●
210. 236917272 c.1865A>G p.D622G missense 0.00000825●●●●●●
211. 236902794 c.1069C>T p.R357C missense 0.00000825●●●●●●
212. 236918450 c.2106C>G p.I702M missense 0.00000825●●●●●●
213. 236925813 c.2579A>G p.Q860R missense 0.00000825●●●●●●
214. 236924432 c.2485G>A p.E829K missense 0.00000825●●●●●●
215. 236918434 c.2090G>A p.G697E missense 0.00000825●●●●●●
216. 236902639 c.914A>C p.E305A missense 0.00000824●●●●●●
217. 236891006 c.565C>G p.L189V missense 0.00000824●●●●●●
218. 236882230 c.278G>A p.R93Q missense 0.00000824●●●●●●
219. 236923058 c.2336G>A p.R779K missense 0.00000824●●●●●●
220. 236906320 c.1232C>T p.S411L missense 0.00000824●●●●●●
221. 236914917 c.1804G>A p.V602I missense 0.00000824●●●●●●
222. 236906203 c.1115C>G p.A372G missense 0.00000824●●●●●●
223. 236920844 c.2213T>A p.V738E missense 0.00000824●●●●●●
224. 236912481 c.1573G>A p.A525T missense 0.00000824●●●●●●
225. 236912448 c.1540A>G p.I514V missense 0.00000824●●●●●●
226. 236882218 c.266G>A p.R89Q missense 0.00000824●●●●●●
227. 236902771 c.1046A>T p.Q349L missense 0.00000824●●●●●●
228. 236902621 c.896G>T p.R299L missense 0.00000824●●●●●●
229. 236891030 c.589C>T p.L197F missense 0.00000824●●●●●●
230. 236924383 c.2436A>T p.Q812H missense 0.00000824●●●●●●
231. 236914924 c.1811T>C p.M604T missense 0.00000824●●●●●●
232. 236924358 c.2411A>G p.N804S missense 0.00000824●●●●●●
233. 236894546 c.629G>A p.G210E missense 0.00000824●●●●●●
234. 236912512 c.1604C>T p.A535V missense 0.00000824●●●●●●
235. 236883483 c.440C>T p.S147L missense 0.00000824●●●●●●
236. 236912554 c.1646A>T p.E549V missense 0.00000824●●●●●●
237. 236902764 c.1039A>T p.T347S missense 0.00000824●●●●●●
238. 236902726 c.1001A>G p.K334R missense 0.00000824●●●●●●
239. 236920831 c.2200A>G p.T734A missense 0.00000824●●●●●●
240. 236923077 c.2355G>T p.M785I missense 0.00000824●●●●●●
241. 236914822 c.1709G>A p.G570E missense 0.00000824●●●●●●
242. 236906322 c.1234A>G p.T412A missense 0.00000824●●●●●●
243. 236906262 c.1174G>A p.E392K missense 0.00000824●●●●●●
244. 236882227 c.275T>C p.M92T missense 0.00000824●●●●●●
245. 236914884 c.1771A>G p.I591V missense 0.00000824●●●●●●
246. 236912490 c.1582T>C p.F528L missense 0.00000824●●●●●●
247. 236902621 c.896G>C p.R299P missense 0.00000824●●●●●●
248. 236914888 c.1775G>T p.R592I missense 0.00000824●●●●●●
249. 236894563 c.646A>G p.M216V missense 0.00000824●●●●●●
250. 236889235 c.451A>G p.T151A missense 0.00000824●●●●●●
251. 236920919 c.2288A>G p.N763S missense 0.00000824●●●●●●
252. 236920895 c.2264T>C p.M755T missense 0.00000824●●●●●●
253. 236906215 c.1127A>G p.Q376R missense 0.00000824●●●●●●
254. 236890982 c.541A>G p.K181E missense 0.00000824●●●●●●
255. 236920840 c.2209G>A p.E737K missense 0.00000824●●●●●●
256. 236912449 c.1541T>C p.I514T missense 0.00000824●●●●●●
257. 236918364 c.2020C>A p.Q674K missense 0.00000824●●●●●●
258. 236902680 c.955A>G p.K319E missense 0.00000824●●●●●●
259. 236902615 c.890T>C p.I297T missense 0.00000824●●●●●●
260. 236924333 c.2386C>T p.R796C missense 0.00000824●●●●●●
261. 236914836 c.1723A>G p.I575V missense 0.00000824●●●●●●
262. 236906326 c.1238A>T p.H413L missense 0.00000824●●●●●●
263. 236891052 c.611A>G p.N204S missense 0.00000824●●●●●●
264. 236906289 c.1201C>T p.H401Y missense 0.00000824●●●●●●
265. 236891022 c.581G>A p.R194Q missense 0.00000824●●●●●●
266. 236920883 c.2252C>T p.T751I missense 0.00000824●●●●●●
267. 236920855 c.2224A>T p.I742F missense 0.00000824●●●●●●
268. 236912507 c.1599G>C p.E533D missense 0.00000824●●●●●●
269. 236882229 c.277C>T p.R93W missense 0.00000824●●●●●●
270. 236902708 c.983G>A p.R328Q missense 0.00000824●●●●●●
271. 236894603 c.686T>G p.L229W missense 0.00000824●●●●●●
272. 236882253 c.301A>G p.N101D missense 0.00000824●●●●●●
273. 236902728 c.1003G>T p.V335L missense 0.00000824●●●●●●
274. 236902624 c.899C>A p.T300K missense 0.00000824●●●●●●
275. 236924399 c.2452A>G p.M818V missense 0.00000824●●●●●●
276. 236914935 c.1822C>T p.R608W missense 0.00000824●●●●●●
277. 236914906 c.1793C>T p.P598L missense 0.00000824●●●●●●
278. 236902705 c.980G>A p.R327H missense 0.00000824●●●●●●
279. 236890997 c.556C>G p.L186V missense 0.00000824●●●●●●
280. 236906269 c.1181G>A p.R394Q missense 0.00000824●●●●●●
281. 236920920 c.2289C>A p.N763K missense 0.00000824●●●●●●
282. 236912515 c.1607T>C p.M536T missense 0.00000824●●●●●●
283. 236920842 c.2211G>T p.E737D missense 0.00000824●●●●●●
284. 236912461 c.1553A>C p.H518P missense 0.00000824●●●●●●
285. 236918421 c.2077G>A p.D693N missense 0.00000824●●●●●●
286. 236914861 c.1748A>C p.E583A missense 0.00000824●●●●●●
287. 236923046 c.2324A>T p.H775L missense 0.00000824●●●●●●
288. 236924370 c.2423C>G p.T808S missense 0.00000824●●●●●●
289. 236924334 c.2387G>A p.R796H missense 0.00000824●●●●●●
290. 236914851 c.1738A>G p.N580D missense 0.00000824●●●●●●
291. 236891053 c.612C>G p.N204K missense 0.00000824●●●●●●
292. 236891025 c.584C>T p.P195L missense 0.00000824●●●●●●
293. 236920857 c.2226C>G p.I742M missense 0.00000824●●●●●●
294. 236912511 c.1603G>T p.A535S missense 0.00000824●●●●●●
295. 236906196 c.1108G>A p.D370N missense 0.00000824●●●●●●
296. 236889293 c.509A>T p.N170I missense 0.00000824●●●●●●
297. 236883444 c.401T>C p.I134T missense 0.00000824●●●●●●
298. 236920795 c.2164G>A p.V722I missense 0.00000824●●●●●●
299. 236920908 c.2277A>T p.R759S missense 0.00000824●●●●●●
300. 236902734 c.1009G>C p.E337Q missense 0.00000824●●●●●●
301. 236902719 c.994C>T p.P332S 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.