ACTN2 variants in ExAC

ACTN2 gene summary
ACTN2 variants in DCM, HCM

The table below lists the ACTN2 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. 236902594 c.877-8C>G splice site 0.77525885●●●●●●
2. 236910983 c.1423G>A p.D475N missense 0.00722922●●●●●●
3. 236914923 c.1810A>G p.M604V missense 0.00584863●●●●●●
4. 236889330 c.536+10C>T splice site 0.00130193●●●●●●
5. 236918313 c.1975-6C>G splice site 0.00112041●●●●●●
6. 236914861 c.1748A>G p.E583G missense 0.00088151●●●●●●
7. 236907968 c.1298C>T p.S433L missense 0.00079502●●●●●●
8. 236849999 c.26A>G p.Q9R missense 0.00070442●●●●●●
9. 236902618 c.893G>A p.R298H missense 0.00055192●●●●●●
10. 236910986 c.1426G>A p.A476T missense 0.00049367●●●●●●
11. 236920792 c.2161C>A p.R721S missense 0.00037891●●●●●●
12. 236907962 c.1292C>T p.S431L missense 0.00035640●●●●●●
13. 236918491 c.2147C>T p.T716M missense 0.00033175●●●●●●
14. 236917271 c.1864G>A p.D622N missense 0.00029691●●●●●●
15. 236911012 c.1452G>C p.Q484H missense 0.00026590●●●●●●
16. 236881276 c.241+4G>A splice site 0.00025920●●●●●●
17. 236917337 c.1930G>A p.A644T missense 0.00023197●●●●●●
18. 236902596 c.877-6G>A splice site 0.00023073●●●●●●
19. 236911044 c.1484C>T p.T495M missense 0.00021984●●●●●●
20. 236925821 c.2587A>G p.I863V missense 0.00016506●●●●●●
21. 236923097 c.2367+8A>G splice site 0.00015656●●●●●●
22. 236925911 c.2677G>A p.D893N missense 0.00015590●●●●●●
23. 236902765 c.1040C>T p.T347M missense 0.00014830●●●●●●
24. 236908084 c.1406+8C>T splice site 0.00014122●●●●●●
25. 236925785 c.2551C>T p.R851C missense 0.00013211●●●●●●
26. 236912427 c.1519A>G p.M507V missense 0.00012380●●●●●●
27. 236849995 c.22G>A p.V8M missense 0.00011882●●●●●●
28. 236914886 c.1773C>G p.I591M missense 0.00011533●●●●●●
29. 236924444 c.2497G>A p.A833T missense 0.00010740●●●●●●
30. 236906323 c.1235C>T p.T412M missense 0.00010715●●●●●●
31. 236925893 c.2659G>A p.A887T missense 0.00010077●●●●●●
32. 236894607 c.690T>A p.D230E missense 0.00009885●●●●●●
33. 236923094 c.2367+5G>A splice site 0.00009063●●●●●●
34. 236902672 c.947T>C p.M316T missense 0.00009060●●●●●●
35. 236890997 c.556C>T p.L186F missense 0.00008237●●●●●●
36. 236910986 c.1426G>T p.A476S missense 0.00007530●●●●●●
37. 236911004 c.1444C>T p.R482W missense 0.00007480●●●●●●
38. 236914936 c.1823G>A p.R608Q missense 0.00007414●●●●●●
39. 236882217 c.265C>T p.R89W missense 0.00007414●●●●●●
40. 236918313 c.1975-6C>T splice site 0.00007414●●●●●●
41. 236902832 c.1107G>A p.S369S splice site 0.00006801●●●●●●
42. 236902831 c.1106C>T p.S369L missense 0.00006795●●●●●●
43. 236900424 c.786C>G p.A262A splice site 0.00006739●●●●●●
44. 236907965 c.1295C>T p.A432V missense 0.00006629●●●●●●
45. 236881197 c.166G>A p.G56S missense 0.00006628●●●●●●
46. 236917299 c.1892G>A p.R631H missense 0.00006607●●●●●●
47. 236925789 c.2555G>A p.R852Q missense 0.00006604●●●●●●
48. 236924370 c.2423C>T p.T808I missense 0.00006591●●●●●●
49. 236907977 c.1307A>C p.E436A missense 0.00005791●●●●●●
50. 236925774 c.2540C>T p.A847V missense 0.00005783●●●●●●
51. 236914821 c.1708G>A p.G570R missense 0.00005771●●●●●●
52. 236902707 c.982C>T p.R328W missense 0.00005766●●●●●●
53. 236882283 c.331G>A p.G111R missense 0.00005766●●●●●●
54. 236902669 c.944C>A p.A315D missense 0.00005765●●●●●●
55. 236925786 c.2552G>A p.R851H missense 0.00004954●●●●●●
56. 236925836 c.2602G>A p.A868T missense 0.00004954●●●●●●
57. 236925801 c.2567C>T p.P856L missense 0.00004953●●●●●●
58. 236914827 c.1714C>T p.R572W missense 0.00004946●●●●●●
59. 236906260 c.1172A>G p.N391S missense 0.00004943●●●●●●
60. 236918328 c.1984C>T p.R662W missense 0.00004943●●●●●●
61. 236902651 c.926C>T p.P309L missense 0.00004942●●●●●●
62. 236920862 c.2231C>T p.T744M missense 0.00004942●●●●●●
63. 236918347 c.2003C>G p.T668R missense 0.00004942●●●●●●
64. 236891016 c.575G>A p.R192Q missense 0.00004942●●●●●●
65. 236850027 c.54G>C p.E18D missense 0.00004257●●●●●●
66. 236910993 c.1433A>T p.N478I missense 0.00004167●●●●●●
67. 236908028 c.1358C>T p.A453V missense 0.00004135●●●●●●
68. 236917316 c.1909C>T p.R637C missense 0.00004135●●●●●●
69. 236924454 c.2507G>A p.R836Q missense 0.00004132●●●●●●
70. 236912494 c.1586A>G p.N529S missense 0.00004119●●●●●●
71. 236906191 c.1108-5C>T splice site 0.00004119●●●●●●
72. 236906268 c.1180C>T p.R394W missense 0.00004119●●●●●●
73. 236906250 c.1162T>A p.W388R missense 0.00004119●●●●●●
74. 236920825 c.2194G>A p.A732T missense 0.00004118●●●●●●
75. 236920909 c.2278G>A p.A760T missense 0.00004118●●●●●●
76. 236925912 c.2678A>G p.D893G missense 0.00003463●●●●●●
77. 236881155 c.127-3C>A splice site 0.00003389●●●●●●
78. 236902806 c.1081A>G p.M361V missense 0.00003318●●●●●●
79. 236918473 c.2129A>G p.N710S missense 0.00003310●●●●●●
80. 236907976 c.1306G>T p.E436X nonsense 0.00003310●●●●●●
81. 236907977 c.1307A>T p.E436V missense 0.00003309●●●●●●
82. 236925757 c.2527-4C>T splice site 0.00003309●●●●●●
83. 236918452 c.2108A>T p.Q703L missense 0.00003302●●●●●●
84. 236925803 c.2569G>C p.D857H missense 0.00003301●●●●●●
85. 236924430 c.2483C>T p.A828V missense 0.00003301●●●●●●
86. 236918426 c.2082G>C p.K694N missense 0.00003298●●●●●●
87. 236914828 c.1715G>A p.R572Q missense 0.00003297●●●●●●
88. 236912460 c.1552C>T p.H518Y missense 0.00003296●●●●●●
89. 236924372 c.2425G>A p.V809I missense 0.00003296●●●●●●
90. 236914938 c.1825A>C p.T609P missense 0.00003295●●●●●●
91. 236883462 c.419G>A p.R140H missense 0.00003295●●●●●●
92. 236912532 c.1624A>G p.M542V missense 0.00003295●●●●●●
93. 236902621 c.896G>A p.R299H missense 0.00003295●●●●●●
94. 236906280 c.1192C>T p.R398C missense 0.00003295●●●●●●
95. 236889292 c.508A>C p.N170H missense 0.00003295●●●●●●
96. 236924360 c.2413G>A p.G805R missense 0.00003295●●●●●●
97. 236925902 c.2668G>A p.G890R missense 0.00002553●●●●●●
98. 236911005 c.1445G>A p.R482Q missense 0.00002493●●●●●●
99. 236907958 c.1288G>C p.E430Q missense 0.00002488●●●●●●
100. 236917352 c.1945A>G p.I649V missense 0.00002485●●●●●●
101. 236908040 c.1370G>A p.R457H missense 0.00002482●●●●●●
102. 236907995 c.1325G>A p.R442Q missense 0.00002482●●●●●●
103. 236907974 c.1304C>T p.T435I missense 0.00002482●●●●●●
104. 236924481 c.2526+8T>C splice site 0.00002482●●●●●●
105. 236908018 c.1348G>A p.D450N missense 0.00002481●●●●●●
106. 236917269 c.1862G>A p.R621H missense 0.00002474●●●●●●
107. 236902783 c.1058G>A p.R353Q missense 0.00002473●●●●●●
108. 236894530 c.616-3C>T splice site 0.00002473●●●●●●
109. 236924396 c.2449T>C p.F817L missense 0.00002472●●●●●●
110. 236918395 c.2051A>G p.N684S missense 0.00002472●●●●●●
111. 236918412 c.2068_2070delAAC p.Asn690del inframe 0.00002472●●●●●●
112. 236902662 c.937A>T p.M313L missense 0.00002471●●●●●●
113. 236902624 c.899C>T p.T300M missense 0.00002471●●●●●●
114. 236906281 c.1193G>A p.R398H missense 0.00002471●●●●●●
115. 236918380 c.2036A>G p.K679R missense 0.00002471●●●●●●
116. 236902704 c.979C>T p.R327C missense 0.00002471●●●●●●
117. 236918329 c.1985G>A p.R662Q missense 0.00002471●●●●●●
118. 236923045 c.2323C>T p.H775Y missense 0.00002471●●●●●●
119. 236889230 c.449-3_449-2insTTCT splice site 0.00002471●●●●●●
120. 236918383 c.2039A>G p.Q680R missense 0.00002471●●●●●●
121. 236920793 c.2162G>A p.R721H missense 0.00002471●●●●●●
122. 236912514 c.1606A>G p.M536V missense 0.00002471●●●●●●
123. 236906193 c.1108-3C>T splice site 0.00002471●●●●●●
124. 236881280 c.241+8T>C splice site 0.00001955●●●●●●
125. 236911078 c.1515+3G>A splice site 0.00001915●●●●●●
126. 236850086 c.113A>G p.K38R missense 0.00001902●●●●●●
127. 236881150 c.127-8C>G splice site 0.00001708●●●●●●
128. 236907918 c.1256-8C>T splice site 0.00001697●●●●●●
129. 236917392 c.1974+11G>A splice site 0.00001674●●●●●●
130. 236899024 c.783+4C>T splice site 0.00001670●●●●●●
131. 236925882 c.2648C>T p.A883V missense 0.00001667●●●●●●
132. 236907941 c.1271T>C p.L424S missense 0.00001664●●●●●●
133. 236925878 c.2644G>A p.A882T missense 0.00001663●●●●●●
134. 236908083 c.1406+7G>A splice site 0.00001660●●●●●●
135. 236918482 c.2138C>T p.T713M missense 0.00001657●●●●●●
136. 236917353 c.1946T>C p.I649T missense 0.00001657●●●●●●
137. 236908063 c.1393G>A p.A465T missense 0.00001656●●●●●●
138. 236925863 c.2629G>T p.G877C missense 0.00001655●●●●●●
139. 236908054 c.1384G>T p.A462S missense 0.00001655●●●●●●
140. 236917313 c.1906G>A p.E636K missense 0.00001654●●●●●●
141. 236908007 c.1337C>T p.A446V missense 0.00001654●●●●●●
142. 236898940 c.703G>A p.V235M missense 0.00001654●●●●●●
143. 236925763 c.2529A>G splice site 0.00001653●●●●●●
144. 236898982 c.745G>A p.V249I missense 0.00001651●●●●●●
145. 236902795 c.1070G>A p.R357H missense 0.00001651●●●●●●
146. 236924429 c.2482G>A p.A828T missense 0.00001650●●●●●●
147. 236883399 c.362-6C>T splice site 0.00001649●●●●●●
148. 236883397 c.362-8A>C splice site 0.00001649●●●●●●
149. 236902782 c.1057C>T p.R353W missense 0.00001649●●●●●●
150. 236906327 c.1239C>G p.H413Q missense 0.00001649●●●●●●
151. 236918322 c.1978A>T p.I660F missense 0.00001648●●●●●●
152. 236891060 c.615+4A>G splice site 0.00001648●●●●●●
153. 236912446 c.1538C>A p.T513N missense 0.00001648●●●●●●
154. 236918314 c.1975-5C>G splice site 0.00001648●●●●●●
155. 236914955 c.1839+3G>A splice site 0.00001648●●●●●●
156. 236918413 c.2069A>G p.N690S missense 0.00001648●●●●●●
157. 236914891 c.1778T>C p.I593T missense 0.00001648●●●●●●
158. 236889326 c.536+6C>G splice site 0.00001648●●●●●●
159. 236914925 c.1812G>A p.M604I missense 0.00001648●●●●●●
160. 236912533 c.1625T>G p.M542R missense 0.00001648●●●●●●
161. 236912457 c.1549C>T p.L517F missense 0.00001648●●●●●●
162. 236918418 c.2074A>G p.I692V missense 0.00001648●●●●●●
163. 236906244 c.1156G>A p.E386K missense 0.00001647●●●●●●
164. 236906205 c.1117G>A p.G373S missense 0.00001647●●●●●●
165. 236889301 c.517A>G p.I173V missense 0.00001647●●●●●●
166. 236902643 c.918C>A p.N306K missense 0.00001647●●●●●●
167. 236891021 c.580C>T p.R194W missense 0.00001647●●●●●●
168. 236920792 c.2161C>T p.R721C missense 0.00001647●●●●●●
169. 236902644 c.919C>T p.R307W missense 0.00001647●●●●●●
170. 236920853 c.2222A>G p.Q741R missense 0.00001647●●●●●●
171. 236912502 c.1594A>T p.M532L missense 0.00001647●●●●●●
172. 236912508 c.1600G>A p.G534S missense 0.00001647●●●●●●
173. 236906233 c.1145A>G p.E382G missense 0.00001647●●●●●●
174. 236920810 c.2179C>G p.L727V missense 0.00001647●●●●●●
175. 236902695 c.970C>T p.R324W missense 0.00001647●●●●●●
176. 236882201 c.249G>C p.R83S missense 0.00001647●●●●●●
177. 236850095 c.122G>A p.R41K missense 0.00001026●●●●●●
178. 236881263 c.232G>T p.V78F missense 0.00000902●●●●●●
179. 236850058 c.85G>A p.D29N missense 0.00000874●●●●●●
180. 236850052 c.79G>A p.D27N missense 0.00000867●●●●●●
181. 236925911 c.2677G>T p.D893Y missense 0.00000866●●●●●●
182. 236850032 c.59T>C p.M20T missense 0.00000853●●●●●●
183. 236849979 c.6C>A p.N2K missense 0.00000852●●●●●●
184. 236849985 c.12A>G p.I4M missense 0.00000850●●●●●●
185. 236850019 c.46G>A p.E16K missense 0.00000850●●●●●●
186. 236850014 c.41_43delACG p.Asp15del inframe 0.00000849●●●●●●
187. 236910975 c.1415A>T p.D472V missense 0.00000849●●●●●●
188. 236907918 c.1256-8C>G splice site 0.00000848●●●●●●
189. 236907922 c.1256-4G>A splice site 0.00000844●●●●●●
190. 236900424 c.786C>T splice site 0.00000842●●●●●●
191. 236902824 c.1099A>G p.M367V missense 0.00000841●●●●●●
192. 236911035 c.1475G>A p.R492Q missense 0.00000840●●●●●●
193. 236900425 c.787G>C p.E263Q missense 0.00000840●●●●●●
194. 236899026 c.783+6C>T splice site 0.00000837●●●●●●
195. 236925890 c.2656T>C p.S886P missense 0.00000836●●●●●●
196. 236914762 c.1657-8G>A splice site 0.00000836●●●●●●
197. 236907936 c.1266G>C p.Q422H missense 0.00000834●●●●●●
198. 236902815 c.1090G>A p.E364K missense 0.00000834●●●●●●
199. 236914766 c.1657-4G>A splice site 0.00000834●●●●●●
200. 236917386 c.1974+5G>A splice site 0.00000833●●●●●●
201. 236899019 c.782A>T p.Q261L missense 0.00000833●●●●●●
202. 236881224 c.193G>A p.D65N missense 0.00000832●●●●●●
203. 236918504 c.2154+6G>A splice site 0.00000831●●●●●●
204. 236914771 c.1658G>C p.S553T missense 0.00000831●●●●●●
205. 236900443 c.805A>G p.I269V missense 0.00000831●●●●●●
206. 236881176 c.145A>C p.N49H missense 0.00000831●●●●●●
207. 236917376 c.1969A>T p.M657L missense 0.00000831●●●●●●
208. 236899013 c.776C>T p.A259V missense 0.00000830●●●●●●
209. 236881198 c.167G>A p.G56D missense 0.00000829●●●●●●
210. 236917359 c.1952C>T p.P651L missense 0.00000829●●●●●●
211. 236899007 c.770C>T p.A257V missense 0.00000829●●●●●●
212. 236907958 c.1288G>A p.E430K missense 0.00000829●●●●●●
213. 236917367 c.1960C>A p.Q654K missense 0.00000829●●●●●●
214. 236908064 c.1394C>A p.A465E missense 0.00000828●●●●●●
215. 236908064 c.1394C>T p.A465V missense 0.00000828●●●●●●
216. 236908060 c.1390A>G p.I464V missense 0.00000828●●●●●●
217. 236908003 c.1333G>A p.E445K missense 0.00000827●●●●●●
218. 236925762 c.2528C>T p.P843L missense 0.00000827●●●●●●
219. 236908013 c.1343A>G p.E448G missense 0.00000827●●●●●●
220. 236907979 c.1309G>A p.V437M missense 0.00000827●●●●●●
221. 236908040 c.1370G>T p.R457L missense 0.00000827●●●●●●
222. 236917325 c.1918C>T p.R640C missense 0.00000827●●●●●●
223. 236907998 c.1328A>T p.K443M missense 0.00000827●●●●●●
224. 236908018 c.1348G>T p.D450Y missense 0.00000827●●●●●●
225. 236907983 c.1313G>A p.R438Q missense 0.00000827●●●●●●
226. 236898936 c.699C>T splice site 0.00000827●●●●●●
227. 236925762 c.2528C>A p.P843Q missense 0.00000827●●●●●●
228. 236908012 c.1342G>C p.E448Q missense 0.00000827●●●●●●
229. 236908002 c.1332C>G p.H444Q missense 0.00000827●●●●●●
230. 236908039 c.1369C>T p.R457C missense 0.00000827●●●●●●
231. 236907994 c.1324C>T p.R442W missense 0.00000827●●●●●●
232. 236917326 c.1919G>A p.R640H missense 0.00000827●●●●●●
233. 236907982 c.1312C>T p.R438W missense 0.00000827●●●●●●
234. 236898947 c.710C>T p.T237I missense 0.00000826●●●●●●
235. 236924441 c.2494A>T p.I832F missense 0.00000826●●●●●●
236. 236906346 c.1255+3A>G splice site 0.00000826●●●●●●
237. 236925828 c.2594G>C p.R865T missense 0.00000826●●●●●●
238. 236925788 c.2554C>T p.R852W missense 0.00000826●●●●●●
239. 236925843 c.2609C>T p.S870L missense 0.00000826●●●●●●
240. 236925848 c.2614C>T p.P872S missense 0.00000826●●●●●●
241. 236925849 c.2615C>A p.P872Q missense 0.00000826●●●●●●
242. 236924435 c.2488C>A p.Q830K missense 0.00000826●●●●●●
243. 236925797 c.2563C>T p.P855S missense 0.00000825●●●●●●
244. 236925812 c.2578C>G p.Q860E missense 0.00000825●●●●●●
245. 236918434 c.2090G>A p.G697E missense 0.00000825●●●●●●
246. 236914816 c.1703C>G p.A568G missense 0.00000825●●●●●●
247. 236902792 c.1067A>G p.N356S missense 0.00000825●●●●●●
248. 236925813 c.2579A>G p.Q860R missense 0.00000825●●●●●●
249. 236925807 c.2573A>C p.Q858P missense 0.00000825●●●●●●
250. 236924432 c.2485G>A p.E829K missense 0.00000825●●●●●●
251. 236924426 c.2479A>G p.T827A missense 0.00000825●●●●●●
252. 236917268 c.1861C>T p.R621C missense 0.00000825●●●●●●
253. 236902794 c.1069C>T p.R357C missense 0.00000825●●●●●●
254. 236918448 c.2104A>G p.I702V missense 0.00000825●●●●●●
255. 236912430 c.1522G>A p.E508K missense 0.00000825●●●●●●
256. 236925810 c.2576C>T p.A859V missense 0.00000825●●●●●●
257. 236917272 c.1865A>G p.D622G missense 0.00000825●●●●●●
258. 236924433 c.2486A>G p.E829G missense 0.00000825●●●●●●
259. 236925821 c.2587A>C p.I863L missense 0.00000825●●●●●●
260. 236918450 c.2106C>G p.I702M missense 0.00000825●●●●●●
261. 236902639 c.914A>C p.E305A missense 0.00000824●●●●●●
262. 236920788 c.2157C>T splice site 0.00000824●●●●●●
263. 236914935 c.1822C>T p.R608W missense 0.00000824●●●●●●
264. 236920920 c.2289C>A p.N763K missense 0.00000824●●●●●●
265. 236906320 c.1232C>T p.S411L missense 0.00000824●●●●●●
266. 236912515 c.1607T>C p.M536T missense 0.00000824●●●●●●
267. 236891006 c.565C>G p.L189V missense 0.00000824●●●●●●
268. 236902705 c.980G>A p.R327H missense 0.00000824●●●●●●
269. 236889326 c.536+6C>T splice site 0.00000824●●●●●●
270. 236882218 c.266G>A p.R89Q missense 0.00000824●●●●●●
271. 236920842 c.2211G>T p.E737D missense 0.00000824●●●●●●
272. 236912461 c.1553A>C p.H518P missense 0.00000824●●●●●●
273. 236920883 c.2252C>T p.T751I missense 0.00000824●●●●●●
274. 236918421 c.2077G>A p.D693N missense 0.00000824●●●●●●
275. 236902621 c.896G>T p.R299L missense 0.00000824●●●●●●
276. 236894527 c.616-6A>C splice site 0.00000824●●●●●●
277. 236924334 c.2387G>A p.R796H missense 0.00000824●●●●●●
278. 236914851 c.1738A>G p.N580D missense 0.00000824●●●●●●
279. 236894546 c.629G>A p.G210E missense 0.00000824●●●●●●
280. 236891030 c.589C>T p.L197F missense 0.00000824●●●●●●
281. 236894603 c.686T>G p.L229W missense 0.00000824●●●●●●
282. 236924363 c.2416C>T p.Q806X nonsense 0.00000824●●●●●●
283. 236914906 c.1793C>T p.P598L missense 0.00000824●●●●●●
284. 236882253 c.301A>G p.N101D missense 0.00000824●●●●●●
285. 236883483 c.440C>T p.S147L missense 0.00000824●●●●●●
286. 236920908 c.2277A>T p.R759S missense 0.00000824●●●●●●
287. 236920857 c.2226C>G p.I742M missense 0.00000824●●●●●●
288. 236912511 c.1603G>T p.A535S missense 0.00000824●●●●●●
289. 236902764 c.1039A>T p.T347S missense 0.00000824●●●●●●
290. 236902726 c.1001A>G p.K334R missense 0.00000824●●●●●●
291. 236918315 c.1975-4T>C splice site 0.00000824●●●●●●
292. 236914884 c.1771A>G p.I591V missense 0.00000824●●●●●●
293. 236923096 c.2367+7C>G splice site 0.00000824●●●●●●
294. 236902598 c.877-4G>A splice site 0.00000824●●●●●●
295. 236924399 c.2452A>G p.M818V missense 0.00000824●●●●●●
296. 236894619 c.697+5G>T splice site 0.00000824●●●●●●
297. 236923058 c.2336G>A p.R779K missense 0.00000824●●●●●●
298. 236906322 c.1234A>G p.T412A missense 0.00000824●●●●●●
299. 236906262 c.1174G>A p.E392K missense 0.00000824●●●●●●
300. 236920844 c.2213T>A p.V738E missense 0.00000824●●●●●●
301. 236912481 c.1573G>A p.A525T missense 0.00000824●●●●●●
302. 236912448 c.1540A>G p.I514V missense 0.00000824●●●●●●
303. 236882227 c.275T>C p.M92T missense 0.00000824●●●●●●
304. 236918396 c.2052_2054delCAT p.Ile686del inframe 0.00000824●●●●●●
305. 236906269 c.1181G>A p.R394Q missense 0.00000824●●●●●●
306. 236920795 c.2164G>A p.V722I missense 0.00000824●●●●●●
307. 236923046 c.2324A>T p.H775L missense 0.00000824●●●●●●
308. 236902621 c.896G>C p.R299P missense 0.00000824●●●●●●
309. 236912449 c.1541T>C p.I514T missense 0.00000824●●●●●●
310. 236920778 c.2155-8C>T splice site 0.00000824●●●●●●
311. 236914924 c.1811T>C p.M604T missense 0.00000824●●●●●●
312. 236894563 c.646A>G p.M216V missense 0.00000824●●●●●●
313. 236924370 c.2423C>G p.T808S missense 0.00000824●●●●●●
314. 236906215 c.1127A>G p.Q376R missense 0.00000824●●●●●●
315. 236890982 c.541A>G p.K181E missense 0.00000824●●●●●●
316. 236889235 c.451A>G p.T151A missense 0.00000824●●●●●●
317. 236882191 c.242-3C>T splice site 0.00000824●●●●●●
318. 236912512 c.1604C>T p.A535V missense 0.00000824●●●●●●
319. 236920831 c.2200A>G p.T734A missense 0.00000824●●●●●●
320. 236902680 c.955A>G p.K319E missense 0.00000824●●●●●●
321. 236924306 c.2368-9T>C splice site 0.00000824●●●●●●
322. 236924307 c.2368-8T>G splice site 0.00000824●●●●●●
323. 236902615 c.890T>C p.I297T missense 0.00000824●●●●●●
324. 236906203 c.1115C>G p.A372G missense 0.00000824●●●●●●
325. 236924358 c.2411A>G p.N804S missense 0.00000824●●●●●●
326. 236923077 c.2355G>T p.M785I missense 0.00000824●●●●●●
327. 236914822 c.1709G>A p.G570E missense 0.00000824●●●●●●
328. 236906326 c.1238A>T p.H413L missense 0.00000824●●●●●●
329. 236891052 c.611A>G p.N204S missense 0.00000824●●●●●●
330. 236906289 c.1201C>T p.H401Y missense 0.00000824●●●●●●
331. 236891022 c.581G>A p.R194Q missense 0.00000824●●●●●●
332. 236889294 c.510delT p.Asn170LysfsTer2 frameshift 0.00000824●●●●●●
333. 236912490 c.1582T>C p.F528L missense 0.00000824●●●●●●
334. 236882229 c.277C>T p.R93W missense 0.00000824●●●●●●
335. 236902708 c.983G>A p.R328Q missense 0.00000824●●●●●●
336. 236918311 c.1975-8C>T splice site 0.00000824●●●●●●
337. 236902728 c.1003G>T p.V335L missense 0.00000824●●●●●●
338. 236920783 c.2155-3T>C splice site 0.00000824●●●●●●
339. 236912554 c.1646A>T p.E549V missense 0.00000824●●●●●●
340. 236918312 c.1975-7C>A splice site 0.00000824●●●●●●
341. 236902624 c.899C>A p.T300K missense 0.00000824●●●●●●
342. 236902594 c.877-8C>T splice site 0.00000824●●●●●●
343. 236924383 c.2436A>T p.Q812H missense 0.00000824●●●●●●
344. 236914888 c.1775G>T p.R592I missense 0.00000824●●●●●●
345. 236902771 c.1046A>T p.Q349L missense 0.00000824●●●●●●
346. 236890997 c.556C>G p.L186V missense 0.00000824●●●●●●
347. 236914861 c.1748A>C p.E583A missense 0.00000824●●●●●●
348. 236920919 c.2288A>G p.N763S missense 0.00000824●●●●●●
349. 236920840 c.2209G>A p.E737K missense 0.00000824●●●●●●
350. 236882230 c.278G>A p.R93Q missense 0.00000824●●●●●●
351. 236924310 c.2368-5C>G splice site 0.00000824●●●●●●
352. 236918364 c.2020C>A p.Q674K missense 0.00000824●●●●●●
353. 236918313 c.1975-6C>A splice site 0.00000824●●●●●●
354. 236914917 c.1804G>A p.V602I missense 0.00000824●●●●●●
355. 236891025 c.584C>T p.P195L missense 0.00000824●●●●●●
356. 236924333 c.2386C>T p.R796C missense 0.00000824●●●●●●
357. 236914836 c.1723A>G p.I575V missense 0.00000824●●●●●●
358. 236891053 c.612C>G p.N204K missense 0.00000824●●●●●●
359. 236920895 c.2264T>C p.M755T missense 0.00000824●●●●●●
360. 236914879 c.1766_1768delACA p.Asn590del inframe 0.00000824●●●●●●
361. 236920855 c.2224A>T p.I742F missense 0.00000824●●●●●●
362. 236912507 c.1599G>C p.E533D missense 0.00000824●●●●●●
363. 236906196 c.1108G>A p.D370N missense 0.00000824●●●●●●
364. 236889293 c.509A>T p.N170I missense 0.00000824●●●●●●
365. 236883444 c.401T>C p.I134T missense 0.00000824●●●●●●
366. 236902734 c.1009G>C p.E337Q missense 0.00000824●●●●●●
367. 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.