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. 236918313 c.1975-6C>T splice site 0.00007414●●●●●●
39. 236882217 c.265C>T p.R89W missense 0.00007414●●●●●●
40. 236914936 c.1823G>A p.R608Q missense 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. 236882283 c.331G>A p.G111R missense 0.00005766●●●●●●
53. 236902707 c.982C>T p.R328W missense 0.00005766●●●●●●
54. 236902669 c.944C>A p.A315D missense 0.00005765●●●●●●
55. 236925836 c.2602G>A p.A868T missense 0.00004954●●●●●●
56. 236925786 c.2552G>A p.R851H missense 0.00004954●●●●●●
57. 236925801 c.2567C>T p.P856L missense 0.00004953●●●●●●
58. 236914827 c.1714C>T p.R572W missense 0.00004946●●●●●●
59. 236918328 c.1984C>T p.R662W missense 0.00004943●●●●●●
60. 236906260 c.1172A>G p.N391S missense 0.00004943●●●●●●
61. 236902651 c.926C>T p.P309L missense 0.00004942●●●●●●
62. 236891016 c.575G>A p.R192Q missense 0.00004942●●●●●●
63. 236918347 c.2003C>G p.T668R missense 0.00004942●●●●●●
64. 236920862 c.2231C>T p.T744M 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. 236906250 c.1162T>A p.W388R missense 0.00004119●●●●●●
73. 236906268 c.1180C>T p.R394W 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. 236925757 c.2527-4C>T splice site 0.00003309●●●●●●
82. 236907977 c.1307A>T p.E436V missense 0.00003309●●●●●●
83. 236918452 c.2108A>T p.Q703L missense 0.00003302●●●●●●
84. 236924430 c.2483C>T p.A828V missense 0.00003301●●●●●●
85. 236925803 c.2569G>C p.D857H 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. 236889292 c.508A>C p.N170H missense 0.00003295●●●●●●
91. 236906280 c.1192C>T p.R398C missense 0.00003295●●●●●●
92. 236883462 c.419G>A p.R140H missense 0.00003295●●●●●●
93. 236902621 c.896G>A p.R299H missense 0.00003295●●●●●●
94. 236912532 c.1624A>G p.M542V missense 0.00003295●●●●●●
95. 236914938 c.1825A>C p.T609P 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. 236924481 c.2526+8T>C splice site 0.00002482●●●●●●
102. 236907974 c.1304C>T p.T435I missense 0.00002482●●●●●●
103. 236907995 c.1325G>A p.R442Q missense 0.00002482●●●●●●
104. 236908040 c.1370G>A p.R457H missense 0.00002482●●●●●●
105. 236908018 c.1348G>A p.D450N missense 0.00002481●●●●●●
106. 236917269 c.1862G>A p.R621H missense 0.00002474●●●●●●
107. 236894530 c.616-3C>T splice site 0.00002473●●●●●●
108. 236902783 c.1058G>A p.R353Q missense 0.00002473●●●●●●
109. 236918395 c.2051A>G p.N684S missense 0.00002472●●●●●●
110. 236924396 c.2449T>C p.F817L missense 0.00002472●●●●●●
111. 236918412 c.2068_2070delAAC p.Asn690del inframe 0.00002472●●●●●●
112. 236923045 c.2323C>T p.H775Y missense 0.00002471●●●●●●
113. 236902624 c.899C>T p.T300M missense 0.00002471●●●●●●
114. 236906193 c.1108-3C>T splice site 0.00002471●●●●●●
115. 236906281 c.1193G>A p.R398H missense 0.00002471●●●●●●
116. 236920793 c.2162G>A p.R721H missense 0.00002471●●●●●●
117. 236902662 c.937A>T p.M313L missense 0.00002471●●●●●●
118. 236902704 c.979C>T p.R327C missense 0.00002471●●●●●●
119. 236912514 c.1606A>G p.M536V missense 0.00002471●●●●●●
120. 236918329 c.1985G>A p.R662Q missense 0.00002471●●●●●●
121. 236918380 c.2036A>G p.K679R missense 0.00002471●●●●●●
122. 236918383 c.2039A>G p.Q680R missense 0.00002471●●●●●●
123. 236889230 c.449-3_449-2insTTCT 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. 236917353 c.1946T>C p.I649T missense 0.00001657●●●●●●
136. 236918482 c.2138C>T p.T713M missense 0.00001657●●●●●●
137. 236908063 c.1393G>A p.A465T missense 0.00001656●●●●●●
138. 236908054 c.1384G>T p.A462S missense 0.00001655●●●●●●
139. 236925863 c.2629G>T p.G877C missense 0.00001655●●●●●●
140. 236898940 c.703G>A p.V235M missense 0.00001654●●●●●●
141. 236908007 c.1337C>T p.A446V missense 0.00001654●●●●●●
142. 236917313 c.1906G>A p.E636K 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. 236902782 c.1057C>T p.R353W missense 0.00001649●●●●●●
148. 236906327 c.1239C>G p.H413Q missense 0.00001649●●●●●●
149. 236883397 c.362-8A>C splice site 0.00001649●●●●●●
150. 236883399 c.362-6C>T splice site 0.00001649●●●●●●
151. 236891060 c.615+4A>G splice site 0.00001648●●●●●●
152. 236914891 c.1778T>C p.I593T missense 0.00001648●●●●●●
153. 236918314 c.1975-5C>G splice site 0.00001648●●●●●●
154. 236918413 c.2069A>G p.N690S missense 0.00001648●●●●●●
155. 236912446 c.1538C>A p.T513N missense 0.00001648●●●●●●
156. 236912457 c.1549C>T p.L517F missense 0.00001648●●●●●●
157. 236912533 c.1625T>G p.M542R missense 0.00001648●●●●●●
158. 236914925 c.1812G>A p.M604I missense 0.00001648●●●●●●
159. 236918322 c.1978A>T p.I660F missense 0.00001648●●●●●●
160. 236918418 c.2074A>G p.I692V missense 0.00001648●●●●●●
161. 236889326 c.536+6C>G splice site 0.00001648●●●●●●
162. 236914955 c.1839+3G>A splice site 0.00001648●●●●●●
163. 236912502 c.1594A>T p.M532L missense 0.00001647●●●●●●
164. 236882201 c.249G>C p.R83S missense 0.00001647●●●●●●
165. 236912508 c.1600G>A p.G534S missense 0.00001647●●●●●●
166. 236889301 c.517A>G p.I173V missense 0.00001647●●●●●●
167. 236891021 c.580C>T p.R194W missense 0.00001647●●●●●●
168. 236902643 c.918C>A p.N306K missense 0.00001647●●●●●●
169. 236902644 c.919C>T p.R307W missense 0.00001647●●●●●●
170. 236902695 c.970C>T p.R324W missense 0.00001647●●●●●●
171. 236906205 c.1117G>A p.G373S missense 0.00001647●●●●●●
172. 236906233 c.1145A>G p.E382G missense 0.00001647●●●●●●
173. 236906244 c.1156G>A p.E386K missense 0.00001647●●●●●●
174. 236920792 c.2161C>T p.R721C missense 0.00001647●●●●●●
175. 236920810 c.2179C>G p.L727V missense 0.00001647●●●●●●
176. 236920853 c.2222A>G p.Q741R 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. 236910975 c.1415A>T p.D472V missense 0.00000849●●●●●●
187. 236850014 c.41_43delACG p.Asp15del inframe 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. 236900425 c.787G>C p.E263Q missense 0.00000840●●●●●●
193. 236911035 c.1475G>A p.R492Q 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. 236902815 c.1090G>A p.E364K missense 0.00000834●●●●●●
198. 236914766 c.1657-4G>A splice site 0.00000834●●●●●●
199. 236907936 c.1266G>C p.Q422H missense 0.00000834●●●●●●
200. 236899019 c.782A>T p.Q261L missense 0.00000833●●●●●●
201. 236917386 c.1974+5G>A splice site 0.00000833●●●●●●
202. 236881224 c.193G>A p.D65N missense 0.00000832●●●●●●
203. 236881176 c.145A>C p.N49H missense 0.00000831●●●●●●
204. 236900443 c.805A>G p.I269V missense 0.00000831●●●●●●
205. 236914771 c.1658G>C p.S553T missense 0.00000831●●●●●●
206. 236917376 c.1969A>T p.M657L missense 0.00000831●●●●●●
207. 236918504 c.2154+6G>A splice site 0.00000831●●●●●●
208. 236899013 c.776C>T p.A259V missense 0.00000830●●●●●●
209. 236917367 c.1960C>A p.Q654K missense 0.00000829●●●●●●
210. 236881198 c.167G>A p.G56D missense 0.00000829●●●●●●
211. 236899007 c.770C>T p.A257V missense 0.00000829●●●●●●
212. 236907958 c.1288G>A p.E430K missense 0.00000829●●●●●●
213. 236917359 c.1952C>T p.P651L missense 0.00000829●●●●●●
214. 236908060 c.1390A>G p.I464V missense 0.00000828●●●●●●
215. 236908064 c.1394C>A p.A465E missense 0.00000828●●●●●●
216. 236908064 c.1394C>T p.A465V missense 0.00000828●●●●●●
217. 236907982 c.1312C>T p.R438W missense 0.00000827●●●●●●
218. 236907979 c.1309G>A p.V437M missense 0.00000827●●●●●●
219. 236907983 c.1313G>A p.R438Q missense 0.00000827●●●●●●
220. 236907994 c.1324C>T p.R442W missense 0.00000827●●●●●●
221. 236907998 c.1328A>T p.K443M missense 0.00000827●●●●●●
222. 236908002 c.1332C>G p.H444Q missense 0.00000827●●●●●●
223. 236908003 c.1333G>A p.E445K missense 0.00000827●●●●●●
224. 236908012 c.1342G>C p.E448Q missense 0.00000827●●●●●●
225. 236908013 c.1343A>G p.E448G missense 0.00000827●●●●●●
226. 236908018 c.1348G>T p.D450Y missense 0.00000827●●●●●●
227. 236908039 c.1369C>T p.R457C missense 0.00000827●●●●●●
228. 236908040 c.1370G>T p.R457L missense 0.00000827●●●●●●
229. 236917325 c.1918C>T p.R640C missense 0.00000827●●●●●●
230. 236917326 c.1919G>A p.R640H missense 0.00000827●●●●●●
231. 236925762 c.2528C>A p.P843Q missense 0.00000827●●●●●●
232. 236925762 c.2528C>T p.P843L missense 0.00000827●●●●●●
233. 236898936 c.699C>T splice site 0.00000827●●●●●●
234. 236924435 c.2488C>A p.Q830K missense 0.00000826●●●●●●
235. 236906346 c.1255+3A>G splice site 0.00000826●●●●●●
236. 236925843 c.2609C>T p.S870L missense 0.00000826●●●●●●
237. 236898947 c.710C>T p.T237I missense 0.00000826●●●●●●
238. 236924441 c.2494A>T p.I832F missense 0.00000826●●●●●●
239. 236925788 c.2554C>T p.R852W missense 0.00000826●●●●●●
240. 236925828 c.2594G>C p.R865T missense 0.00000826●●●●●●
241. 236925848 c.2614C>T p.P872S missense 0.00000826●●●●●●
242. 236925849 c.2615C>A p.P872Q missense 0.00000826●●●●●●
243. 236918434 c.2090G>A p.G697E missense 0.00000825●●●●●●
244. 236902792 c.1067A>G p.N356S missense 0.00000825●●●●●●
245. 236902794 c.1069C>T p.R357C missense 0.00000825●●●●●●
246. 236912430 c.1522G>A p.E508K missense 0.00000825●●●●●●
247. 236914816 c.1703C>G p.A568G missense 0.00000825●●●●●●
248. 236917268 c.1861C>T p.R621C missense 0.00000825●●●●●●
249. 236917272 c.1865A>G p.D622G missense 0.00000825●●●●●●
250. 236918448 c.2104A>G p.I702V missense 0.00000825●●●●●●
251. 236918450 c.2106C>G p.I702M missense 0.00000825●●●●●●
252. 236924426 c.2479A>G p.T827A missense 0.00000825●●●●●●
253. 236924432 c.2485G>A p.E829K missense 0.00000825●●●●●●
254. 236924433 c.2486A>G p.E829G missense 0.00000825●●●●●●
255. 236925797 c.2563C>T p.P855S missense 0.00000825●●●●●●
256. 236925807 c.2573A>C p.Q858P missense 0.00000825●●●●●●
257. 236925810 c.2576C>T p.A859V missense 0.00000825●●●●●●
258. 236925812 c.2578C>G p.Q860E missense 0.00000825●●●●●●
259. 236925813 c.2579A>G p.Q860R missense 0.00000825●●●●●●
260. 236925821 c.2587A>C p.I863L missense 0.00000825●●●●●●
261. 236914861 c.1748A>C p.E583A missense 0.00000824●●●●●●
262. 236882253 c.301A>G p.N101D missense 0.00000824●●●●●●
263. 236894603 c.686T>G p.L229W missense 0.00000824●●●●●●
264. 236906203 c.1115C>G p.A372G missense 0.00000824●●●●●●
265. 236912554 c.1646A>T p.E549V missense 0.00000824●●●●●●
266. 236920883 c.2252C>T p.T751I missense 0.00000824●●●●●●
267. 236923046 c.2324A>T p.H775L missense 0.00000824●●●●●●
268. 236902598 c.877-4G>A splice site 0.00000824●●●●●●
269. 236902771 c.1046A>T p.Q349L missense 0.00000824●●●●●●
270. 236912449 c.1541T>C p.I514T missense 0.00000824●●●●●●
271. 236914884 c.1771A>G p.I591V missense 0.00000824●●●●●●
272. 236914917 c.1804G>A p.V602I missense 0.00000824●●●●●●
273. 236918311 c.1975-8C>T splice site 0.00000824●●●●●●
274. 236920795 c.2164G>A p.V722I missense 0.00000824●●●●●●
275. 236906269 c.1181G>A p.R394Q missense 0.00000824●●●●●●
276. 236882230 c.278G>A p.R93Q missense 0.00000824●●●●●●
277. 236902705 c.980G>A p.R327H missense 0.00000824●●●●●●
278. 236894527 c.616-6A>C splice site 0.00000824●●●●●●
279. 236918315 c.1975-4T>C splice site 0.00000824●●●●●●
280. 236924306 c.2368-9T>C splice site 0.00000824●●●●●●
281. 236918313 c.1975-6C>A splice site 0.00000824●●●●●●
282. 236882218 c.266G>A p.R89Q missense 0.00000824●●●●●●
283. 236882227 c.275T>C p.M92T missense 0.00000824●●●●●●
284. 236882229 c.277C>T p.R93W missense 0.00000824●●●●●●
285. 236883444 c.401T>C p.I134T missense 0.00000824●●●●●●
286. 236883483 c.440C>T p.S147L missense 0.00000824●●●●●●
287. 236889235 c.451A>G p.T151A missense 0.00000824●●●●●●
288. 236889293 c.509A>T p.N170I missense 0.00000824●●●●●●
289. 236890982 c.541A>G p.K181E missense 0.00000824●●●●●●
290. 236890997 c.556C>G p.L186V missense 0.00000824●●●●●●
291. 236891006 c.565C>G p.L189V missense 0.00000824●●●●●●
292. 236891022 c.581G>A p.R194Q missense 0.00000824●●●●●●
293. 236891025 c.584C>T p.P195L missense 0.00000824●●●●●●
294. 236891030 c.589C>T p.L197F missense 0.00000824●●●●●●
295. 236891052 c.611A>G p.N204S missense 0.00000824●●●●●●
296. 236891053 c.612C>G p.N204K missense 0.00000824●●●●●●
297. 236894546 c.629G>A p.G210E missense 0.00000824●●●●●●
298. 236894563 c.646A>G p.M216V missense 0.00000824●●●●●●
299. 236902615 c.890T>C p.I297T missense 0.00000824●●●●●●
300. 236902621 c.896G>T p.R299L missense 0.00000824●●●●●●
301. 236902621 c.896G>C p.R299P missense 0.00000824●●●●●●
302. 236902624 c.899C>A p.T300K missense 0.00000824●●●●●●
303. 236902639 c.914A>C p.E305A missense 0.00000824●●●●●●
304. 236902680 c.955A>G p.K319E missense 0.00000824●●●●●●
305. 236902708 c.983G>A p.R328Q missense 0.00000824●●●●●●
306. 236902719 c.994C>T p.P332S missense 0.00000824●●●●●●
307. 236902726 c.1001A>G p.K334R missense 0.00000824●●●●●●
308. 236902728 c.1003G>T p.V335L missense 0.00000824●●●●●●
309. 236902734 c.1009G>C p.E337Q missense 0.00000824●●●●●●
310. 236902764 c.1039A>T p.T347S missense 0.00000824●●●●●●
311. 236906196 c.1108G>A p.D370N missense 0.00000824●●●●●●
312. 236906215 c.1127A>G p.Q376R missense 0.00000824●●●●●●
313. 236906262 c.1174G>A p.E392K missense 0.00000824●●●●●●
314. 236906289 c.1201C>T p.H401Y missense 0.00000824●●●●●●
315. 236906320 c.1232C>T p.S411L missense 0.00000824●●●●●●
316. 236906322 c.1234A>G p.T412A missense 0.00000824●●●●●●
317. 236906326 c.1238A>T p.H413L missense 0.00000824●●●●●●
318. 236912448 c.1540A>G p.I514V missense 0.00000824●●●●●●
319. 236912461 c.1553A>C p.H518P missense 0.00000824●●●●●●
320. 236912481 c.1573G>A p.A525T missense 0.00000824●●●●●●
321. 236912490 c.1582T>C p.F528L missense 0.00000824●●●●●●
322. 236912507 c.1599G>C p.E533D missense 0.00000824●●●●●●
323. 236912511 c.1603G>T p.A535S missense 0.00000824●●●●●●
324. 236912512 c.1604C>T p.A535V missense 0.00000824●●●●●●
325. 236912515 c.1607T>C p.M536T missense 0.00000824●●●●●●
326. 236914822 c.1709G>A p.G570E missense 0.00000824●●●●●●
327. 236914836 c.1723A>G p.I575V missense 0.00000824●●●●●●
328. 236914851 c.1738A>G p.N580D missense 0.00000824●●●●●●
329. 236914888 c.1775G>T p.R592I missense 0.00000824●●●●●●
330. 236914906 c.1793C>T p.P598L missense 0.00000824●●●●●●
331. 236914924 c.1811T>C p.M604T missense 0.00000824●●●●●●
332. 236914935 c.1822C>T p.R608W missense 0.00000824●●●●●●
333. 236918364 c.2020C>A p.Q674K missense 0.00000824●●●●●●
334. 236918421 c.2077G>A p.D693N missense 0.00000824●●●●●●
335. 236920831 c.2200A>G p.T734A missense 0.00000824●●●●●●
336. 236920840 c.2209G>A p.E737K missense 0.00000824●●●●●●
337. 236920842 c.2211G>T p.E737D missense 0.00000824●●●●●●
338. 236920844 c.2213T>A p.V738E missense 0.00000824●●●●●●
339. 236920855 c.2224A>T p.I742F missense 0.00000824●●●●●●
340. 236920857 c.2226C>G p.I742M missense 0.00000824●●●●●●
341. 236920895 c.2264T>C p.M755T missense 0.00000824●●●●●●
342. 236920908 c.2277A>T p.R759S missense 0.00000824●●●●●●
343. 236920919 c.2288A>G p.N763S missense 0.00000824●●●●●●
344. 236920920 c.2289C>A p.N763K missense 0.00000824●●●●●●
345. 236923058 c.2336G>A p.R779K missense 0.00000824●●●●●●
346. 236923077 c.2355G>T p.M785I missense 0.00000824●●●●●●
347. 236924333 c.2386C>T p.R796C missense 0.00000824●●●●●●
348. 236924334 c.2387G>A p.R796H missense 0.00000824●●●●●●
349. 236924358 c.2411A>G p.N804S missense 0.00000824●●●●●●
350. 236924363 c.2416C>T p.Q806X nonsense 0.00000824●●●●●●
351. 236924370 c.2423C>G p.T808S missense 0.00000824●●●●●●
352. 236924383 c.2436A>T p.Q812H missense 0.00000824●●●●●●
353. 236924399 c.2452A>G p.M818V missense 0.00000824●●●●●●
354. 236889294 c.510delT p.Asn170LysfsTer2 frameshift 0.00000824●●●●●●
355. 236914879 c.1766_1768delACA p.Asn590del inframe 0.00000824●●●●●●
356. 236918396 c.2052_2054delCAT p.Ile686del inframe 0.00000824●●●●●●
357. 236882191 c.242-3C>T splice site 0.00000824●●●●●●
358. 236889326 c.536+6C>T splice site 0.00000824●●●●●●
359. 236894619 c.697+5G>T splice site 0.00000824●●●●●●
360. 236902594 c.877-8C>T splice site 0.00000824●●●●●●
361. 236918312 c.1975-7C>A splice site 0.00000824●●●●●●
362. 236920778 c.2155-8C>T splice site 0.00000824●●●●●●
363. 236920783 c.2155-3T>C splice site 0.00000824●●●●●●
364. 236920788 c.2157C>T splice site 0.00000824●●●●●●
365. 236923096 c.2367+7C>G splice site 0.00000824●●●●●●
366. 236924307 c.2368-8T>G splice site 0.00000824●●●●●●
367. 236924310 c.2368-5C>G splice site 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.