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

* 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.