MYH6 protein-altering variants in ExAC


The table below lists the MYH6 protein-altering variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. 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 frequencyPopulations*
1. 23876426 c.7G>A p.D3N missense 0.00001649
2. 23876398 c.35C>T p.A12V missense 0.00000824
3. 23876383 c.50G>A p.R17H missense 0.00000824
4. 23876365 c.68G>A p.R23H missense 0.00001648
5. 23876360 c.73G>A p.E25K missense 0.00000824
6. 23876356 c.77C>G p.A26G missense 0.00005767
7. 23876348 c.85C>T p.R29W missense 0.00001648
8. 23876347 c.86G>C p.R29P missense 0.00000824
9. 23876344 c.89C>G p.P30R missense 0.00000824
10. 23876340 c.93T>G p.F31L missense 0.00000824
11. 23876339 c.94G>C p.D32H missense 0.00000824
12. 23876333 c.100C>T p.R34C missense 0.00002471
13. 23876332 c.101G>A p.R34H missense 0.00000824
14. 23876318 c.115G>A p.V39M missense 0.00009061
15. 23876314 c.119C>G p.P40R missense 0.00001647
16. 23876314 c.119C>T p.P40L missense 0.00000824
17. 23876313 c.120delC p.Asp41MetfsTer29 frameshift 0.00000824
18. 23876312 c.121G>A p.D41N missense 0.00000824
19. 23876305 c.128A>G p.K43R missense 0.00000824
20. 23876273 c.160C>T p.R54W missense 0.00002471
21. 23876272 c.161G>A p.R54Q missense 0.00006591
22. 23876258 c.175G>C p.V59L missense 0.00001648
23. 23876258 c.175G>A p.V59I missense 0.00000824
24. 23876243 c.190G>A p.E64K missense 0.00001649
25. 23874978 c.203C>T p.T68M missense 0.00004119
26. 23874970 c.211G>A p.V71M missense 0.00000824
27. 23874969 c.212T>C p.V71A missense 0.00001647
28. 23874957 c.224A>G p.Q75R missense 0.00000824
29. 23874948 c.233A>G p.Q78R missense 0.00001647
30. 23874937 c.244C>T p.P82S missense 0.00000824
31. 23874928 c.253G>A p.D85N missense 0.00000824
32. 23874919 c.262G>C p.E88Q missense 0.00000824
33. 23874913 c.268A>G p.M90V missense 0.00000824
34. 23874906 c.275T>C p.M92T missense 0.00001647
35. 23874889 c.292G>C p.E98Q missense 0.00000824
36. 23874877 c.304C>A p.L102I missense 0.00004119
37. 23874868 c.313C>A p.L105I missense 0.00004943
38. 23874853 c.328G>A p.A110T missense 0.00000824
39. 23874852 c.329C>T p.A110V missense 0.00001648
40. 23874842 c.339G>T p.M113I missense 0.00000825
41. 23874842 c.339G>A p.M113I missense 0.00000825
42. 23874838 c.343T>C p.Y115H missense 0.00000825
43. 23874590 c.346-2A>G essential splice site 0.00003298
44. 23874576 c.358C>G p.L120V missense 0.00000824
45. 23874551 c.383A>G p.Y128C missense 0.00000824
46. 23874539 c.395_396insTAC p.Pro132_Val133insThr inframe 0.00001648
47. 23874530 c.404A>G p.N135S missense 0.00002471
48. 23874525 c.409G>A p.E137K missense 0.00007414
49. 23874521 c.413T>C p.V138A missense 0.00000824
50. 23874515 c.419C>A p.A140D missense 0.00001647
51. 23874513 c.421G>A p.A141T missense 0.00001647
52. 23874510 c.424T>C p.Y142H missense 0.00000824
53. 23874507 c.427C>G p.R143G missense 0.00001647
54. 23874507 c.427C>T p.R143W missense 0.00000824
55. 23874503 c.431G>T p.G144V missense 0.00009884
56. 23874494 c.440G>A p.R147K missense 0.00000824
57. 23874488 c.446A>T p.E149V missense 0.00000824
58. 23874459 c.475G>A p.D159N missense 0.00004118
59. 23874453 c.481G>A p.A161T missense 0.00002471
60. 23874449 c.485A>G p.Y162C missense 0.00001647
61. 23874432 c.502G>A p.D168N missense 0.00000824
62. 23874018 c.544G>A p.A182T missense 0.00000824
63. 23873994 c.568C>T p.R190C missense 0.00001647
64. 23873979 c.583T>C p.F195L missense 0.00000824
65. 23873972 c.590G>A p.S197N missense 0.00000824
66. 23873952 c.610C>T p.R204C missense 0.00000824
67. 23873937 c.625A>G p.N209D missense 0.00000824
68. 23873927 c.635C>T p.A212V missense 0.00002473
69. 23873920 c.642G>T p.K214N missense 0.00000825
70. 23873585 c.655G>T p.D219Y missense 0.00000824
71. 23873564 c.676C>T p.P226S missense 0.00001647
72. 23873561 c.679G>A p.A227T missense 0.00002471
73. 23873549 c.691T>C p.F231L missense 0.00001647
74. 23873546 c.694G>A p.G232S missense 0.00000824
75. 23873528 c.712C>T p.R238W missense 0.00002471
76. 23873527 c.713G>A p.R238Q missense 0.00001647
77. 23873522 c.718G>A p.D240N missense 0.00000824
78. 23873510 c.730C>T p.R244C missense 0.00000824
79. 23873509 c.731G>A p.R244H missense 0.00000824
80. 23873506 c.734T>C p.F245S missense 0.00001647
81. 23872978 c.745A>G p.I249V missense 0.00001103
82. 23872977 c.746T>C p.I249T missense 0.00002200
83. 23872967 c.756C>G p.H252Q missense 0.00004259
84. 23872938 c.785C>T p.A262V missense 0.00001038
85. 23872933 c.790A>T p.I264L missense 0.00001041
86. 23872640 c.815C>T p.S272F missense 0.00000824
87. 23872617 c.838G>T p.A280S missense 0.00000824
88. 23872591 c.864C>G p.Y288X nonsense 0.00001647
89. 23872576 c.879C>G p.N293K missense 0.00000824
90. 23872573 c.882G>C p.K294N missense 0.00000824
91. 23872568 c.887C>T p.P296L missense 0.00000824
92. 23871997 c.911T>C p.V304A missense 0.00000835
93. 23871980 c.928G>A p.D310N missense 0.00000830
94. 23871974 c.934G>A p.A312T missense 0.00000829
95. 23871971 c.937T>G p.F313V missense 0.00000828
96. 23871967 c.941T>C p.V314A missense 0.00002482
97. 23871947 c.961G>A p.V321M missense 0.00002477
98. 23871943 c.965C>G p.A322G missense 0.00000826
99. 23871932 c.976G>A p.D326N missense 0.00002476
100. 23871932 c.976G>T p.D326Y missense 0.00000825
101. 23871926 c.982G>A p.E328K missense 0.00005778
102. 23871914 c.994G>A p.A332T missense 0.00000826
103. 23871908 c.1000G>A p.D334N missense 0.00001652
104. 23871906 c.1002T>A p.D334E missense 0.00001652
105. 23871905 c.1002+1G>A essential splice site 0.00000826
106. 23871807 c.1007C>G p.A336G missense 0.00007421
107. 23871807 c.1007C>A p.A336D missense 0.00001649
108. 23871800 c.1014C>A p.D338E missense 0.00000824
109. 23871799 c.1015G>A p.V339M missense 0.00002473
110. 23871768 c.1046G>A p.G349D missense 0.00000824
111. 23871766 c.1048G>A p.V350I missense 0.00004943
112. 23871753 c.1061C>T p.T354M missense 0.00000824
113. 23871742 c.1072A>G p.M358V missense 0.00001648
114. 23871726 c.1088T>C p.M363T missense 0.00002471
115. 23871706 c.1108C>T p.R370W missense 0.00003296
116. 23871689 c.1125G>T p.E375D missense 0.00000824
117. 23871685 c.1129G>C p.D377H missense 0.00000824
118. 23871675 c.1139A>C p.E380A missense 0.00003298
119. 23870178 c.1150A>G p.K384E missense 0.00000827
120. 23870172 c.1156G>A p.A386T missense 0.00002477
121. 23870162 c.1166T>C p.M389T missense 0.00001649
122. 23870151 c.1177T>G p.S393A missense 0.00001648
123. 23870143 c.1185C>G p.D395E missense 0.00000824
124. 23870122 c.1206C>A p.H402Q missense 0.00000824
125. 23870084 c.1244G>C p.G415A missense 0.00006589
126. 23870079 c.1249A>G p.S417G missense 0.00001647
127. 23870070 c.1258C>T p.Q420X nonsense 0.00001647
128. 23870067 c.1261G>A p.V421M missense 0.00006589
129. 23870052 c.1276G>A p.G426R missense 0.00000824
130. 23870033 c.1295T>C p.V432A missense 0.00000824
131. 23870027 c.1301A>C p.E434A missense 0.00000824
132. 23870021 c.1307T>C p.M436T missense 0.00000824
133. 23870007 c.1321G>A p.V441M missense 0.00000824
134. 23870003 c.1325C>T p.T442M missense 0.00001647
135. 23870000 c.1328G>A p.R443H missense 0.00008237
136. 23869981 c.1347G>T p.E449D missense 0.00004942
137. 23869962 c.1366T>G p.Y456D missense 0.00000824
138. 23869956 c.1372A>G p.I458V missense 0.00000824
139. 23869955 c.1373T>C p.I458T missense 0.00001648
140. 23869929 c.1399G>A p.E467K missense 0.00001648
141. 23869920 c.1408G>A p.D470N missense 0.00001649
142. 23869920 c.1408G>T p.D470Y missense 0.00001649
143. 23869919 c.1409A>G p.D470G missense 0.00000824
144. 23869635 c.1411T>C p.F471L missense 0.00000828
145. 23869560 c.1486G>A p.V496M missense 0.00007413
146. 23869560 c.1486G>C p.V496L missense 0.00000824
147. 23869554 c.1492G>A p.E498K missense 0.00002471
148. 23869546 c.1500G>C p.E500D missense 0.00000824
149. 23869539 c.1507A>G p.K503E missense 0.00000824
150. 23869531 c.1515G>C p.E505D missense 0.00000824
151. 23869526 c.1520T>C p.I507T missense 0.00000824
152. 23869524 c.1522G>C p.E508Q missense 0.00000824
153. 23869511 c.1535T>C p.I512T missense 0.00001647
154. 23869499 c.1547T>C p.M516T missense 0.00000824
155. 23869484 c.1562G>A p.C521Y missense 0.00000824
156. 23869481 c.1565T>C p.I522T missense 0.00000824
157. 23869468 c.1578G>C p.E526D missense 0.00000824
158. 23869464 c.1581+1G>A essential splice site 0.00000824
159. 23868212 c.1616G>A p.C539Y missense 0.00000824
160. 23868200 c.1628A>G p.K543R missense 0.00004942
161. 23868190 c.1638C>A p.D546E missense 0.00000824
162. 23868189 c.1639A>G p.M547V missense 0.00001647
163. 23868178 c.1650G>C p.K550N missense 0.00000824
164. 23868176 c.1652C>T p.A551V missense 0.00000824
165. 23868166 c.1662C>A p.Y554X nonsense 0.00000824
166. 23868126 c.1702C>T p.R568C missense 0.00002471
167. 23868125 c.1703G>A p.R568H missense 0.00003295
168. 23868101 c.1727C>T p.A576V missense 0.00000824
169. 23868090 c.1738C>A p.L580M missense 0.00000824
170. 23868087 c.1741A>G p.I581V missense 0.00000824
171. 23868078 c.1750G>A p.A584T missense 0.00000824
172. 23868065 c.1763A>G p.D588G missense 0.00000824
173. 23868045 c.1783C>G p.L595V missense 0.00000824
174. 23868044 c.1784T>A p.L595Q missense 0.00000824
175. 23868039 c.1789A>G p.K597E missense 0.00000824
176. 23868032 c.1796A>T p.K599M missense 0.00000824
177. 23868029 c.1799A>T p.D600V missense 0.00000824
178. 23868023 c.1805T>C p.L602P missense 0.00000824
179. 23868012 c.1816G>A p.V606I missense 0.00000824
180. 23868011 c.1817T>C p.V606A missense 0.00000824
181. 23868003 c.1825C>A p.L609M missense 0.00000824
182. 23867997 c.1831C>A p.Q611K missense 0.00000824
183. 23867997 c.1831C>T p.Q611X nonsense 0.00000824
184. 23867996 c.1832A>T p.Q611L missense 0.00000824
185. 23867988 c.1840T>G p.S614A missense 0.00000824
186. 23867987 c.1841C>T p.S614F missense 0.00000824
187. 23867974 c.1854G>A p.M618I missense 0.00001647
188. 23867966 c.1862T>A p.L621H missense 0.00002471
189. 23867962 c.1866C>A p.F622L missense 0.00000824
190. 23867960 c.1868C>T p.S623F missense 0.00007413
191. 23867953 c.1875C>A p.Y625X nonsense 0.00001647
192. 23867952 c.1876G>A p.A626T missense 0.00000824
193. 23867943 c.1885G>A p.D629N missense 0.00009885
194. 23867937 c.1891G>A p.G631R missense 0.00000824
195. 23866806 c.1908C>A p.S636R missense 0.00000825
196. 23866793 c.1921A>C p.K641Q missense 0.00000825
197. 23866783 c.1931C>T p.S644L missense 0.00001649
198. 23866780 c.1934C>T p.S645F missense 0.00002473
199. 23866768 c.1946T>C p.V649A missense 0.00001649
200. 23866765 c.1949C>T p.S650L missense 0.00000824
201. 23866762 c.1952C>T p.A651V missense 0.00000824
202. 23866754 c.1960C>T p.R654W missense 0.00000824
203. 23866753 c.1961G>A p.R654Q missense 0.00000824
204. 23866455 c.1974C>A p.N658K missense 0.00002472
205. 23866452 c.1977delG p.K659Nfs*2 frameshift 0.00000824
206. 23866421 c.2008C>T p.H670Y missense 0.00001647
207. 23866417 c.2012T>G p.F671C missense 0.00000824
208. 23866402 c.2027T>A p.I676N missense 0.00000824
209. 23866396 c.2033A>G p.N678S missense 0.00000824
210. 23866390 c.2039G>A p.R680Q missense 0.00000824
211. 23866379 c.2050G>C p.G684R missense 0.00000824
212. 23866290 c.2051-1G>A essential splice site 0.00000824
213. 23866287 c.2053G>A p.V685M missense 0.00000824
214. 23866277 c.2063A>G p.N688S missense 0.00000824
215. 23866276 c.2064C>A p.N688K missense 0.00002471
216. 23866275 c.2065C>A p.P689T missense 0.00000824
217. 23866272 c.2068delC p.Leu690TrpfsTer38 frameshift 0.00002472
218. 23866271 c.2069T>A p.L690Q missense 0.00000824
219. 23866254 c.2086C>T p.R696C missense 0.00001648
220. 23866253 c.2087G>A p.R696H missense 0.00006591
221. 23866242 c.2098G>A p.V700M missense 0.00003296
222. 23866227 c.2113C>T p.R705C missense 0.00008241
223. 23866224 c.2116A>T p.I706F missense 0.00000824
224. 23866223 c.2117T>A p.I706N missense 0.00000824
225. 23866221 c.2119T>C p.C707R missense 0.00001648
226. 23866200 c.2140C>T p.R714C missense 0.00000824
227. 23866199 c.2141G>A p.R714H missense 0.00000824
228. 23866197 c.2143A>G p.I715V missense 0.00001648
229. 23866185 c.2155G>A p.D719N missense 0.00001648
230. 23866178 c.2162G>A p.R721Q missense 0.00000824
231. 23866022 c.2173C>T p.R725C missense 0.00002471
232. 23866021 c.2174G>T p.R725L missense 0.00001647
233. 23866019 c.2176A>T p.I726F missense 0.00000824
234. 23866004 c.2191G>T p.A731S missense 0.00000824
235. 23865989 c.2206C>A p.Q736K missense 0.00005766
236. 23865982 c.2213T>C p.I738T missense 0.00000824
237. 23865973 c.2222G>A p.R741K missense 0.00000824
238. 23865937 c.2258T>C p.I753T missense 0.00003295
239. 23865927 c.2268C>A p.N756K missense 0.00000824
240. 23865922 c.2273A>G p.Y758C missense 0.00001647
241. 23865916 c.2279T>C p.F760S missense 0.00000824
242. 23865904 c.2291A>C p.K764T missense 0.00000824
243. 23865902 c.2292+1G>A essential splice site 0.00000824
244. 23865901 c.2292+2T>C essential splice site 0.00000824
245. 23865632 c.2293-3_2293-2delCA essential splice site 0.00000842
246. 23865616 c.2306C>T p.A769V missense 0.00004998
247. 23865593 c.2329G>A p.E777K missense 0.00001656
248. 23865590 c.2332A>T p.M778L missense 0.00001655
249. 23865587 c.2335C>T p.R779W missense 0.00000827
250. 23865584 c.2338G>A p.D780N missense 0.00000826
251. 23865569 c.2353C>T p.R785C missense 0.00005780
252. 23865568 c.2354G>A p.R785H missense 0.00000826
253. 23865565 c.2357T>A p.I786N missense 0.00000825
254. 23865565 c.2357T>G p.I786S missense 0.00000825
255. 23865559 c.2363C>T p.T788M missense 0.00002476
256. 23865559 c.2363C>G p.T788R missense 0.00000825
257. 23865557 c.2365C>T p.R789C missense 0.00001651
258. 23865556 c.2366G>A p.R789H missense 0.00003301
259. 23865551 c.2371C>G p.Q791E missense 0.00000825
260. 23865539 c.2383C>T p.R795W missense 0.00007421
261. 23865538 c.2384G>A p.R795Q missense 0.00003298
262. 23865525 c.2397G>A p.M799I missense 0.00000824
263. 23865524 c.2398C>T p.R800C missense 0.00002473
264. 23865524 c.2398C>A p.R800S missense 0.00000824
265. 23865523 c.2399G>A p.R800H missense 0.00004121
266. 23865521 c.2401A>G p.I801V missense 0.00002472
267. 23865521 c.2401A>T p.I801F missense 0.00000824
268. 23865497 c.2425C>T p.R809C missense 0.00003295
269. 23863522 c.2440C>A p.L814M missense 0.00003304
270. 23863514 c.2448C>G p.I816M missense 0.00000826
271. 23863474 c.2488C>T p.P830S missense 0.00000824
272. 23863459 c.2503T>C p.Y835H missense 0.00000824
273. 23863434 c.2528A>G p.K843R missense 0.00000824
274. 23863422 c.2540C>T p.T847M missense 0.00004119
275. 23863409 c.2553G>A p.M851I missense 0.00000824
276. 23863408 c.2554G>A p.A852T missense 0.00001647
277. 23863395 c.2567A>G p.E856G missense 0.00000824
278. 23863392 c.2570A>G p.E857G missense 0.00000824
279. 23863387 c.2575G>A p.G859R missense 0.00002471
280. 23863387 c.2575G>T p.G859W missense 0.00008237
281. 23863386 c.2576G>C p.G859A missense 0.00000824
282. 23863377 c.2585A>G p.K862R missense 0.00000824
283. 23863373 c.2589G>C p.E863D missense 0.00000824
284. 23863371 c.2591C>T p.T864M missense 0.00001647
285. 23863362 c.2600A>G p.K867R missense 0.00003295
286. 23863357 c.2605G>A p.E869K missense 0.00000824
287. 23863351 c.2611C>T p.R871C missense 0.00006590
288. 23863347 c.2615G>A p.R872H missense 0.00003295
289. 23863342 c.2620G>T p.E874X nonsense 0.00000824
290. 23863341 c.2621A>T p.E874V missense 0.00000824
291. 23863333 c.2629G>A p.E877K missense 0.00000824
292. 23863304 c.2658G>C p.K886N missense 0.00000824
293. 23863299 c.2663A>G p.D888G missense 0.00000824
294. 23863105 c.2698C>A p.L900I missense 0.00000824
295. 23863093 c.2710G>T p.E904X nonsense 0.00000824
296. 23863087 c.2716C>T p.R906C missense 0.00004942
297. 23863087 c.2716C>A p.R906S missense 0.00001647
298. 23863086 c.2717G>A p.R906H missense 0.00003295
299. 23863086 c.2717G>T p.R906L missense 0.00001647
300. 23863081 c.2722G>A p.D908N missense 0.00003295
301. 23863075 c.2728C>A p.L910M missense 0.00000824
302. 23863065 c.2738A>G p.N913S missense 0.00001647
303. 23863032 c.2771T>C p.M924T missense 0.00001647
304. 23862997 c.2806G>A p.A936T missense 0.00000824
305. 23862976 c.2827C>T p.R943C missense 0.00004118
306. 23862976 c.2827C>A p.R943S missense 0.00002471
307. 23862975 c.2828G>A p.R943H missense 0.00005765
308. 23862961 c.2842G>A p.E948K missense 0.00001647
309. 23862957 c.2846G>A p.C949Y missense 0.00000824
310. 23862956 c.2847C>A p.C949X nonsense 0.00000824
311. 23862940 c.2863G>C p.D955H missense 0.00000824
312. 23862928 c.2875C>G p.L959V missense 0.00000824
313. 23862909 c.2894A>C p.K965T missense 0.00000824
314. 23862874 c.2928+1G>A essential splice site 0.00000824
315. 23862727 c.2929G>C p.V977L missense 0.00002471
316. 23862727 c.2929G>A p.V977M missense 0.00001647
317. 23862711 c.2945A>G p.E982G missense 0.00000824
318. 23862705 c.2951T>C p.M984T missense 0.00001647
319. 23862691 c.2965G>A p.E989K missense 0.00004118
320. 23862682 c.2974G>A p.A992T missense 0.00000824
321. 23862676 c.2980C>A p.L994M missense 0.00000824
322. 23862672 c.2984C>G p.T995S missense 0.00000824
323. 23862667 c.2989G>C p.E997Q missense 0.00003295
324. 23862635 c.3021G>T p.Q1007H missense 0.00001647
325. 23862631 c.3025C>G p.L1009V missense 0.00001647
326. 23862588 c.3068C>T p.S1023F missense 0.00000824
327. 23862583 c.3073T>A p.S1025T missense 0.00002471
328. 23862579 c.3077A>C p.K1026T missense 0.00000824
329. 23862568 c.3088G>C p.E1030Q missense 0.00002471
330. 23862565 c.3091C>A p.Q1031K missense 0.00000824
331. 23862562 c.3094C>T p.Q1032X nonsense 0.00001647
332. 23862551 c.3105T>G p.D1035E missense 0.00000824
333. 23862248 c.3124C>A p.Q1042K missense 0.00000824
334. 23862245 c.3127G>C p.E1043Q missense 0.00000824
335. 23862235 c.3137T>C p.V1046A missense 0.00000824
336. 23862233 c.3139C>T p.R1047C missense 0.00000824
337. 23862232 c.3140G>A p.R1047H missense 0.00000824
338. 23862221 c.3151G>A p.E1051K missense 0.00000824
339. 23862218 c.3154C>T p.R1052X nonsense 0.00001647
340. 23862217 c.3155G>A p.R1052Q missense 0.00000824
341. 23862209 c.3163C>T p.R1055W missense 0.00000824
342. 23862194 c.3178G>A p.D1060N missense 0.00008237
343. 23862181 c.3191C>T p.T1064I missense 0.00001647
344. 23862176 c.3196G>A p.E1066K missense 0.00000824
345. 23862173 c.3199A>G p.S1067G missense 0.00009060
346. 23862169 c.3203T>C p.I1068T missense 0.00000824
347. 23862152 c.3220G>A p.D1074N missense 0.00004118
348. 23862152 c.3220G>T p.D1074Y missense 0.00000824
349. 23862143 c.3229C>T p.Q1077X nonsense 0.00000824
350. 23862137 c.3235G>C p.E1079Q missense 0.00000824
351. 23861839 c.3274C>G p.Q1092E missense 0.00001647
352. 23861826 c.3287T>C p.I1096T missense 0.00000824
353. 23861826 c.3287T>A p.I1096N missense 0.00000824
354. 23861824 c.3289G>A p.E1097K missense 0.00001647
355. 23861814 c.3299A>T p.Q1100L missense 0.00002471
356. 23861812 c.3301G>A p.V1101M missense 0.00002471
357. 23859655 c.3343G>A p.A1115T missense 0.00001810
358. 23859652 c.3346C>A p.R1116S missense 0.00006301
359. 23859652 c.3346C>T p.R1116C missense 0.00004501
360. 23859651 c.3347G>A p.R1116H missense 0.00008985
361. 23859615 c.3383G>A p.R1128H missense 0.00002794
362. 23859610 c.3388G>T p.A1130S missense 0.00000945
363. 23859484 c.3514G>A p.E1172K missense 0.00002561
364. 23859467 c.3531delG p.Arg1178GlyfsTer38 frameshift 0.00001324
365. 23859466 c.3532C>T p.R1178W missense 0.00001324
366. 23859430 c.3568_3572delACTGC p.Thr1190ArgfsTer41 frameshift 0.00001106
367. 23859357 c.3641G>A p.R1214Q missense 0.00000829
368. 23858928 c.3733G>A p.A1245T missense 0.00001648
369. 23858912 c.3749T>A p.V1250E missense 0.00000824
370. 23858906 c.3755G>A p.R1252Q missense 0.00001648
371. 23858903 c.3758C>T p.T1253M missense 0.00004943
372. 23858895 c.3766G>A p.D1256N missense 0.00000824
373. 23858890 c.3771G>T p.Q1257H missense 0.00000824
374. 23858877 c.3784C>T p.R1262C missense 0.00007414
375. 23858874 c.3787G>A p.V1263M missense 0.00004119
376. 23858874 c.3787G>T p.V1263L missense 0.00000824
377. 23858859 c.3802G>T p.A1268S missense 0.00002471
378. 23858859 c.3802G>A p.A1268T missense 0.00000824
379. 23858858 c.3803C>G p.A1268G missense 0.00000824
380. 23858853 c.3808C>T p.R1270C missense 0.00005766
381. 23858852 c.3809G>A p.R1270H missense 0.00000824
382. 23858847 c.3814C>T p.L1272F missense 0.00000824
383. 23858825 c.3836G>A p.R1279Q missense 0.00001647
384. 23858823 c.3838G>A p.A1280T missense 0.00000824
385. 23858808 c.3853G>A p.E1285K missense 0.00003295
386. 23858804 c.3857A>T p.N1286I missense 0.00000824
387. 23858803 c.3858T>G p.N1286K missense 0.00000824
388. 23858803 c.3858T>A p.N1286K missense 0.00000824
389. 23858800 c.3859+2T>G essential splice site 0.00000824
390. 23858722 c.3860-2A>C essential splice site 0.00000824
391. 23858720 c.3860G>A p.G1287E missense 0.00000824
392. 23858708 c.3872G>A p.R1291Q missense 0.00004118
393. 23858687 c.3893C>T p.A1298V missense 0.00009061
394. 23858678 c.3902C>T p.S1301L missense 0.00000824
395. 23858667 c.3913delC p.R1305Gfs*123 frameshift 0.00000824
396. 23858667 c.3913C>T p.R1305W missense 0.00000824
397. 23858666 c.3914G>A p.R1305Q missense 0.00004118
398. 23858657 c.3923T>G p.L1308R missense 0.00001647
399. 23858654 c.3926_3927delCT p.Ser1309LeufsTer32 frameshift 0.00000824
400. 23858613 c.3967delG p.Glu1323ArgfsTer105 frameshift 0.00000824
401. 23858602 c.3978G>C p.K1326N missense 0.00004119
402. 23858600 c.3978+2T>C essential splice site 0.00000824
403. 23858266 c.3979-2A>C essential splice site 0.00001129
404. 23858254 c.3989C>T p.A1330V missense 0.00000873
405. 23858246 c.3997C>A p.H1333N missense 0.00000848
406. 23858245 c.3998A>G p.H1333R missense 0.00000845
407. 23858233 c.4010C>T p.S1337L missense 0.00000838
408. 23858227 c.4016G>A p.R1339Q missense 0.00001669
409. 23858222 c.4021G>T p.D1341Y missense 0.00000833
410. 23858217 c.4026C>A p.C1342X nonsense 0.00007474
411. 23858207 c.4036C>T p.R1346W missense 0.00003315
412. 23858198 c.4045T>A p.Y1349N missense 0.00000827
413. 23858198 c.4045T>G p.Y1349D missense 0.00000827
414. 23858196 c.4047C>G p.Y1349X nonsense 0.00000826
415. 23858195 c.4048G>A p.E1350K missense 0.00001652
416. 23858173 c.4070C>T p.A1357V missense 0.00000825
417. 23858162 c.4081C>T p.R1361C missense 0.00001649
418. 23858161 c.4082G>A p.R1361H missense 0.00004123
419. 23858159 c.4084G>A p.V1362I missense 0.00004122
420. 23858150 c.4093A>G p.K1365E missense 0.00000824
421. 23858140 c.4103C>T p.S1368L missense 0.00000824
422. 23858107 c.4136C>A p.T1379K missense 0.00001648
423. 23858103 c.4140C>G p.D1380E missense 0.00000824
424. 23858103 c.4140C>A p.D1380E missense 0.00001648
425. 23858102 c.4141G>A p.A1381T missense 0.00003295
426. 23858097 c.4146_4148delTCA p.Ile1382_Gln1383delinsMet inframe 0.00000824
427. 23858093 c.4150C>T p.R1384W missense 0.00000824
428. 23858092 c.4151G>A p.R1384Q missense 0.00001648
429. 23858086 c.4157A>T p.E1386V missense 0.00000824
430. 23857541 c.4182G>C p.K1394N missense 0.00001655
431. 23857531 c.4192C>T p.R1398W missense 0.00003302
432. 23857516 c.4207G>A p.E1403K missense 0.00003296
433. 23857516 c.4207G>T p.E1403X nonsense 0.00000824
434. 23857507 c.4216G>A p.V1406M missense 0.00004943
435. 23857492 c.4231G>A p.A1411T missense 0.00004943
436. 23857468 c.4255A>C p.T1419P missense 0.00000824
437. 23857456 c.4267C>A p.L1423I missense 0.00001647
438. 23857437 c.4286A>T p.D1429V missense 0.00001647
439. 23857431 c.4292T>C p.M1431T missense 0.00000824
440. 23857429 c.4294G>A p.V1432M missense 0.00000824
441. 23857428 c.4295T>A p.V1432E missense 0.00000824
442. 23857423 c.4300G>A p.V1434I missense 0.00005766
443. 23857417 c.4306C>T p.R1436C missense 0.00003295
444. 23857417 c.4306C>A p.R1436S missense 0.00000824
445. 23857416 c.4307G>A p.R1436H missense 0.00003295
446. 23857410 c.4313A>T p.N1438I missense 0.00000824
447. 23857405 c.4318G>C p.A1440P missense 0.00000824
448. 23857405 c.4318G>T p.A1440S missense 0.00001648
449. 23857398 c.4325C>T p.A1442V missense 0.00001648
450. 23857395 c.4328C>A p.A1443D missense 0.00006590
451. 23857378 c.4345A>G p.R1449G missense 0.00000824
452. 23857377 c.4346G>A p.R1449K missense 0.00001648
453. 23857371 c.4352T>C p.F1451S missense 0.00000824
454. 23857131 c.4361T>A p.I1454N missense 0.00001665
455. 23857123 c.4369G>A p.E1457K missense 0.00001663
456. 23857105 c.4387G>A p.E1463K missense 0.00001660
457. 23857102 c.4390G>T p.E1464X nonsense 0.00001659
458. 23857101 c.4391A>C p.E1464A missense 0.00001659
459. 23857098 c.4394C>T p.S1465L missense 0.00000829
460. 23857096 c.4396C>G p.Q1466E missense 0.00000829
461. 23857095 c.4397A>G p.Q1466R missense 0.00000829
462. 23857072 c.4420A>G p.K1474E missense 0.00001654
463. 23857068 c.4424A>G p.E1475G missense 0.00000827
464. 23857065 c.4427C>T p.A1476V missense 0.00000826
465. 23857063 c.4429C>T p.R1477C missense 0.00001652
466. 23857062 c.4430G>A p.R1477H missense 0.00001652
467. 23857051 c.4441A>T p.T1481S missense 0.00000825
468. 23857046 c.4446G>C p.E1482D missense 0.00000825
469. 23857045 c.4447C>T p.L1483F missense 0.00000825
470. 23857037 c.4455G>C p.K1485N missense 0.00001649
471. 23857027 c.4465G>A p.A1489T missense 0.00000824
472. 23857018 c.4474_4476delGAG p.Glu1492del inframe 0.00001648
473. 23856995 c.4497dupC p.Phe1500LeufsTer17 frameshift 0.00000824
474. 23856988 c.4504C>T p.R1502W missense 0.00000824
475. 23856981 c.4511A>G p.N1504S missense 0.00001648
476. 23856974 c.4518C>A p.N1506K missense 0.00000824
477. 23856974 c.4518C>G p.N1506K missense 0.00000824
478. 23856967 c.4525G>T p.E1509X nonsense 0.00000824
479. 23856853 c.4535C>T p.S1512L missense 0.00000824
480. 23856833 c.4555G>T p.Gly1519Ter nonsense 0.00000824
481. 23856832 c.4556G>A p.G1519E missense 0.00000824
482. 23856803 c.4585G>A p.E1529K missense 0.00000824
483. 23856799 c.4589A>T p.K1530M missense 0.00000824
484. 23856794 c.4594C>T p.R1532C missense 0.00009886
485. 23856794 c.4594C>G p.R1532G missense 0.00001648
486. 23856793 c.4595G>A p.R1532H missense 0.00002471
487. 23856786 c.4602G>C p.Q1534H missense 0.00000824
488. 23856773 c.4615A>C p.K1539Q missense 0.00000824
489. 23856767 c.4621G>C p.E1541Q missense 0.00000824
490. 23856764 c.4624C>A p.L1542M missense 0.00000824
491. 23856761 c.4627C>A p.Q1543K missense 0.00000824
492. 23855833 c.4651-1G>A essential splice site 0.00000845
493. 23855818 c.4665C>A p.H1555Q missense 0.00000840
494. 23855817 c.4666G>A p.E1556K missense 0.00008390
495. 23855814 c.4669G>A p.E1557K missense 0.00000838
496. 23855811 c.4672G>A p.G1558S missense 0.00000837
497. 23855807 c.4676A>G p.K1559R missense 0.00000834
498. 23855802 c.4681C>T p.L1561F missense 0.00000833
499. 23855799 c.4684C>T p.R1562W missense 0.00000832
500. 23855798 c.4685G>T p.R1562L missense 0.00000832
501. 23855798 c.4685G>A p.R1562Q missense 0.00000832
502. 23855796 c.4687G>A p.A1563T missense 0.00000831
503. 23855785 c.4698G>C p.E1566D missense 0.00000829
504. 23855783 c.4700T>G p.F1567C missense 0.00000828
505. 23855770 c.4713G>T p.K1571N missense 0.00002477
506. 23855762 c.4721T>A p.I1574N missense 0.00000825
507. 23855760 c.4723G>A p.E1575K missense 0.00004124
508. 23855757 c.4726C>T p.R1576W missense 0.00000824
509. 23855756 c.4727G>A p.R1576Q missense 0.00003298
510. 23855740 c.4743G>T p.K1581N missense 0.00000824
511. 23855736 c.4747G>A p.E1583K missense 0.00005767
512. 23855720 c.4763C>A p.A1588D missense 0.00000824
513. 23855715 c.4768C>A p.R1590S missense 0.00000824
514. 23855715 c.4768C>T p.R1590C missense 0.00000824
515. 23855714 c.4769G>A p.R1590H missense 0.00002471
516. 23855711 c.4772A>G p.N1591S missense 0.00007413
517. 23855702 c.4781G>A p.R1594Q missense 0.00001647
518. 23855691 c.4792T>C p.S1598P missense 0.00000824
519. 23855690 c.4793C>T p.S1598L missense 0.00002471
520. 23855685 c.4798C>A p.Q1600K missense 0.00003295
521. 23855662 c.4821_4822delAC p.Arg1608GlnfsTer18 frameshift 0.00001647
522. 23855661 c.4822C>T p.R1608C missense 0.00005766
523. 23855661 c.4822C>G p.R1608G missense 0.00000824
524. 23855660 c.4823G>A p.R1608H missense 0.00000824
525. 23855655 c.4828C>T p.R1610C missense 0.00004118
526. 23855654 c.4829G>A p.R1610H missense 0.00003295
527. 23855647 c.4836G>C p.E1612D missense 0.00000824
528. 23855637 c.4846G>A p.V1616M missense 0.00000824
529. 23855633 c.4850A>C p.K1617T missense 0.00000824
530. 23855629 c.4854G>T p.K1618N missense 0.00000824
531. 23855629 c.4854G>C p.K1618N missense 0.00001647
532. 23855627 c.4856_4858delAGA p.Lys1619del inframe 0.00000824
533. 23855612 c.4871T>C p.L1624P missense 0.00000824
534. 23855609 c.4874A>G p.N1625S missense 0.00002471
535. 23855583 c.4900G>A p.A1634T missense 0.00002471
536. 23855576 c.4907G>A p.R1636H missense 0.00000824
537. 23855568 c.4915G>A p.A1639T missense 0.00001648
538. 23855565 c.4918G>A p.E1640K missense 0.00000824
539. 23855534 c.4949G>A p.S1650N missense 0.00000824
540. 23855340 c.4960G>A p.D1654N missense 0.00000826
541. 23855331 c.4969A>G p.I1657V missense 0.00004125
542. 23855319 c.4981G>A p.D1661N missense 0.00000825
543. 23855315 c.4985C>T p.A1662V missense 0.00001649
544. 23855310 c.4990C>T p.R1664C missense 0.00002473
545. 23855309 c.4991G>A p.R1664H missense 0.00000824
546. 23855301 c.4999G>A p.D1667N missense 0.00004946
547. 23855298 c.5002G>A p.D1668N missense 0.00002473
548. 23855286 c.5014A>T p.N1672Y missense 0.00000824
549. 23855277 c.5023A>G p.I1675V missense 0.00001648
550. 23855274 c.5026G>A p.V1676M missense 0.00001648
551. 23855268 c.5032C>T p.R1678W missense 0.00002472
552. 23855267 c.5033G>A p.R1678Q missense 0.00002472
553. 23855264 c.5036G>A p.R1679H missense 0.00001648
554. 23855261 c.5039A>T p.N1680I missense 0.00000824
555. 23855254 c.5046dupG p.Leu1683AlafsTer4 frameshift 0.00001649
556. 23855229 c.5071C>T p.R1691C missense 0.00000824
557. 23855205 c.5095C>T p.R1699W missense 0.00005771
558. 23855204 c.5096G>A p.R1699Q missense 0.00001649
559. 23855201 c.5099C>A p.S1700Y missense 0.00000825
560. 23855199 c.5101C>T p.R1701W missense 0.00004948
561. 23855198 c.5102G>A p.R1701Q missense 0.00002474
562. 23855189 c.5111C>T p.A1704V missense 0.00000825
563. 23855174 c.5126T>C p.I1709T missense 0.00000825
564. 23855165 c.5135G>T p.S1712I missense 0.00001651
565. 23855163 c.5137G>A p.E1713K missense 0.00003304
566. 23855160 c.5140C>T p.R1714W missense 0.00000826
567. 23855159 c.5141G>A p.R1714Q missense 0.00002480
568. 23855153 c.5147A>G p.Q1716R missense 0.00000827
569. 23855144 c.5156A>G p.H1719R missense 0.00000828
570. 23854231 c.5183A>G p.Q1728R missense 0.00000824
571. 23854225 c.5189A>G p.K1730R missense 0.00000824
572. 23854222 c.5192A>T p.K1731M missense 0.00000824
573. 23854222 c.5192A>C p.K1731T missense 0.00000824
574. 23854211 c.5203G>A p.D1735N missense 0.00000824
575. 23854158 c.5256C>G p.N1752K missense 0.00000824
576. 23854157 c.5257G>C p.A1753P missense 0.00000824
577. 23854154 c.5260G>T p.E1754X nonsense 0.00000824
578. 23854154 c.5260G>C p.E1754Q missense 0.00000824
579. 23854154 c.5260G>A p.E1754K missense 0.00002471
580. 23854147 c.5267A>G p.K1756R missense 0.00000824
581. 23854136 c.5278G>A p.A1760T missense 0.00003295
582. 23854123 c.5289+2T>C essential splice site 0.00000824
583. 23853923 c.5293G>A p.A1765T missense 0.00008245
584. 23853919 c.5297T>C p.M1766T missense 0.00000824
585. 23853898 c.5318A>T p.K1773M missense 0.00001648
586. 23853895 c.5321A>G p.E1774G missense 0.00000824
587. 23853881 c.5335G>T p.A1779S missense 0.00000824
588. 23853880 c.5336C>A p.A1779D missense 0.00003295
589. 23853875 c.5341C>A p.L1781M missense 0.00000824
590. 23853872 c.5344G>C p.E1782Q missense 0.00000824
591. 23853868 c.5348G>A p.R1783H missense 0.00005766
592. 23853866 c.5350A>G p.M1784V missense 0.00001647
593. 23853865 c.5351T>A p.M1784K missense 0.00000824
594. 23853841 c.5375T>C p.I1792T missense 0.00000824
595. 23853827 c.5389C>G p.H1797D missense 0.00000824
596. 23853824 c.5392C>T p.R1798W missense 0.00000824
597. 23853823 c.5393G>A p.R1798Q missense 0.00000824
598. 23853815 c.5401G>A p.E1801K missense 0.00000824
599. 23853812 c.5404G>A p.A1802T missense 0.00000824
600. 23853809 c.5407G>C p.E1803Q missense 0.00000824
601. 23853800 c.5416G>A p.A1806T missense 0.00002471
602. 23853788 c.5428G>A p.G1810S missense 0.00000824
603. 23853762 c.5454A>T p.E1818D missense 0.00000824
604. 23853758 c.5458C>T p.R1820W missense 0.00006590
605. 23853757 c.5459G>A p.R1820Q missense 0.00008238
606. 23853752 c.5464C>G p.R1822G missense 0.00000824
607. 23853742 c.5474A>T p.E1825V missense 0.00000824
608. 23853741 c.5475G>C p.E1825D missense 0.00001648
609. 23853735 c.5481G>C p.E1827D missense 0.00000824
610. 23853731 c.5485G>C p.E1829Q missense 0.00004945
611. 23853725 c.5491G>T p.E1831X nonsense 0.00000824
612. 23853715 c.5501G>A p.R1834H missense 0.00003297
613. 23853710 c.5506G>A p.A1836T missense 0.00003297
614. 23853703 c.5513C>T p.S1838L missense 0.00004122
615. 23853701 c.5515G>T p.V1839L missense 0.00000824
616. 23853697 c.5519A>G p.K1840R missense 0.00008245
617. 23853695 c.5521G>A p.G1841S missense 0.00000824
618. 23853694 c.5522G>A p.G1841D missense 0.00000824
619. 23853692 c.5524A>G p.M1842V missense 0.00000824
620. 23853682 c.5534G>T p.S1845I missense 0.00000825
621. 23853676 c.5540G>A p.R1847Q missense 0.00006599
622. 23853674 c.5542C>T p.R1848C missense 0.00001650
623. 23853656 c.5560T>C p.Y1854H missense 0.00000826
624. 23853653 c.5563C>T p.Q1855X nonsense 0.00000826
625. 23853649 c.5565+2T>A essential splice site 0.00000826
626. 23852509 c.5586C>G p.N1862K missense 0.00000828
627. 23852502 c.5593C>T p.R1865W missense 0.00002475
628. 23852501 c.5594G>A p.R1865Q missense 0.00005774
629. 23852489 c.5606T>C p.L1869P missense 0.00000824
630. 23852468 c.5627A>G p.K1876R missense 0.00008241
631. 23852453 c.5642A>G p.K1881R missense 0.00004120
632. 23852451 c.5644C>T p.R1882C missense 0.00001648
633. 23852450 c.5645G>T p.R1882L missense 0.00000824
634. 23852442 c.5653G>A p.E1885K missense 0.00001648
635. 23852439 c.5656G>A p.E1886K missense 0.00002472
636. 23852435 c.5660C>T p.A1887V missense 0.00001648
637. 23851770 c.5663A>C p.E1888A missense 0.00000824
638. 23851768 c.5665G>A p.E1889K missense 0.00000824
639. 23851743 c.5690A>G p.K1897R missense 0.00004118
640. 23851741 c.5692T>C p.F1898L missense 0.00009060
641. 23851739 c.5694C>G p.F1898L missense 0.00003295
642. 23851738 c.5695C>T p.R1899C missense 0.00003295
643. 23851727 c.5706G>T p.Q1902H missense 0.00002471
644. 23851726 c.5707C>A p.H1903N missense 0.00000824
645. 23851702 c.5731C>T p.R1911W missense 0.00002471
646. 23851698 c.5735C>T p.A1912V missense 0.00001647
647. 23851690 c.5743G>A p.A1915T missense 0.00000824
648. 23851680 c.5753A>T p.Q1918L missense 0.00000824
649. 23851666 c.5767C>T p.R1923X nonsense 0.00000824
650. 23851665 c.5768G>A p.R1923Q missense 0.00000824
651. 23851653 c.5780G>T p.R1927L missense 0.00000824
652. 23851653 c.5780G>A p.R1927H missense 0.00001647
653. 23851645 c.5788G>C p.G1930R missense 0.00000824
654. 23851644 c.5789G>A p.G1930D missense 0.00000824
655. 23851639 c.5794A>T p.K1932X nonsense 0.00001647
656. 23851274 c.5797-2A>G essential splice site 0.00000824
657. 23851266 c.5803dupA p.Met1935AsnfsTer4 frameshift 0.00000824
658. 23851264 c.5805G>T p.M1935I missense 0.00001647
659. 0 c.-13-1G>A essential splice site 0.00002476
660. 0 c.-13-1G>C essential splice site 0.00000825

* 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.