MYH7 missense variants in ExAC


The table below lists the MYH7 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 frequencyPopulations*
1. 23886409 c.4472C>G p.S1491C missense 0.00746219
2. 23892910 c.2945T>C p.M982T missense 0.00090601
3. 23902865 c.77C>T p.A26V missense 0.00056870
4. 23893148 c.2890G>C p.V964L missense 0.00042006
5. 23886504 c.4377G>T p.K1459N missense 0.00030546
6. 23888775 c.3770A>G p.N1257S missense 0.00030477
7. 23894554 c.2360G>A p.R787H missense 0.00022244
8. 23886482 c.4399C>G p.L1467V missense 0.00015668
9. 23890217 c.3286G>T p.D1096Y missense 0.00015659
10. 23887578 c.4010G>A p.R1337Q missense 0.00015064
11. 23898249 c.1322C>T p.T441M missense 0.00013179
12. 23886722 c.4343A>T p.N1448I missense 0.00011537
13. 23891518 c.3116A>G p.E1039G missense 0.00011534
14. 23898310 c.1261A>G p.I421V missense 0.00010707
15. 23887607 c.3981C>A p.N1327K missense 0.00010347
16. 23885449 c.4717G>A p.E1573K missense 0.00008241
17. 23886458 c.4423C>T p.R1475C missense 0.00008239
18. 23884924 c.5071G>A p.V1691M missense 0.00008238
19. 23888742 c.3803G>A p.R1268H missense 0.00008237
20. 23899800 c.968T>C p.I323T missense 0.00007549
21. 23902914 c.28G>C p.G10R missense 0.00007434
22. 23891476 c.3158G>A p.R1053Q missense 0.00007414
23. 23883054 c.5704G>C p.E1902Q missense 0.00007413
24. 23899792 c.976G>C p.A326P missense 0.00006783
25. 23890202 c.3301G>A p.G1101S missense 0.00006593
26. 23887510 c.4078G>A p.V1360I missense 0.00005773
27. 23885010 c.4985G>A p.R1662H missense 0.00005769
28. 23902827 c.115G>A p.V39M missense 0.00005768
29. 23894555 c.2359C>T p.R787C missense 0.00005767
30. 23885257 c.4909G>A p.A1637T missense 0.00005766
31. 23894232 c.2425G>T p.D809Y missense 0.00004950
32. 23884256 c.5507C>T p.S1836L missense 0.00004949
33. 23884263 c.5500G>A p.A1834T missense 0.00004947
34. 23884269 c.5494C>T p.R1832C missense 0.00004946
35. 23891399 c.3235C>T p.R1079W missense 0.00004944
36. 23884965 c.5030G>A p.R1677H missense 0.00004943
37. 23885349 c.4817G>A p.R1606H missense 0.00004942
38. 23901923 c.427C>T p.R143W missense 0.00004942
39. 23886771 c.4294G>A p.V1432I missense 0.00004942
40. 23884630 c.5243G>A p.C1748Y missense 0.00004942
41. 23887606 c.3982G>A p.A1328T missense 0.00004312
42. 23902000 c.350A>T p.Y117F missense 0.00004127
43. 23887498 c.4090G>A p.A1364T missense 0.00004122
44. 23902427 c.211G>A p.V71M missense 0.00004119
45. 23888715 c.3830G>A p.R1277Q missense 0.00004118
46. 23897001 c.1681G>A p.A561T missense 0.00004118
47. 23884476 c.5287G>A p.A1763T missense 0.00004118
48. 23892820 c.3035C>A p.A1012D missense 0.00004118
49. 23884434 c.5329G>A p.A1777T missense 0.00004118
50. 23885379 c.4787C>T p.S1596L missense 0.00004118
51. 23885272 c.4894G>A p.A1632T missense 0.00004118
52. 23887584 c.4004C>T p.S1335L missense 0.00003364
53. 23895275 c.2060C>A p.P687H missense 0.00003343
54. 23887536 c.4052C>T p.T1351M missense 0.00003304
55. 23896826 c.1856C>T p.T619I missense 0.00003302
56. 23883310 c.5561C>T p.T1854M missense 0.00003302
57. 23887512 c.4076G>A p.R1359H missense 0.00003299
58. 23884268 c.5495G>A p.R1832H missense 0.00003297
59. 23882979 c.5779A>T p.I1927F missense 0.00003297
60. 23894525 c.2389G>A p.A797T missense 0.00003296
61. 23884670 c.5203T>A p.S1735T missense 0.00003295
62. 23884341 c.5422G>A p.G1808S missense 0.00003295
63. 23884437 c.5326A>G p.S1776G missense 0.00003295
64. 23894051 c.2606G>A p.R869H missense 0.00003295
65. 23885247 c.4919A>T p.Q1640L missense 0.00003295
66. 23886782 c.4283T>C p.L1428S missense 0.00003295
67. 23888744 c.3801G>C p.Q1267H missense 0.00003295
68. 23894072 c.2585C>T p.A862V missense 0.00003295
69. 23883033 c.5725C>T p.R1909W missense 0.00003295
70. 23888766 c.3779G>A p.R1260Q missense 0.00003295
71. 23885217 c.4949T>C p.L1650S missense 0.00003295
72. 23891500 c.3134G>A p.R1045H missense 0.00003295
73. 23884981 c.5014G>A p.A1672T missense 0.00003295
74. 23887614 c.3974C>T p.A1325V missense 0.00002618
75. 23899843 c.925G>A p.D309N missense 0.00002486
76. 23902925 c.17T>C p.M6T missense 0.00002482
77. 23882071 c.5800G>A p.E1934K missense 0.00002480
78. 23885041 c.4954G>T p.D1652Y missense 0.00002475
79. 23882972 c.5786C>T p.T1929M missense 0.00002474
80. 23902875 c.67C>T p.R23W missense 0.00002473
81. 23887491 c.4097C>T p.S1366L missense 0.00002473
82. 23884278 c.5485G>A p.E1829K missense 0.00002472
83. 23902310 c.328G>A p.G110S missense 0.00002472
84. 23884305 c.5458C>G p.R1820G missense 0.00002472
85. 23884305 c.5458C>T p.R1820W missense 0.00002472
86. 23885445 c.4721G>A p.R1574Q missense 0.00002472
87. 23885003 c.4992C>A p.N1664K missense 0.00002472
88. 23886382 c.4499G>A p.R1500Q missense 0.00002471
89. 23888731 c.3814G>A p.D1272N missense 0.00002471
90. 23900999 c.610C>T p.R204C missense 0.00002471
91. 23888768 c.3777C>A p.H1259Q missense 0.00002471
92. 23884975 c.5020G>A p.V1674M missense 0.00002471
93. 23885262 c.4904T>C p.M1635T missense 0.00002471
94. 23899077 c.1045A>G p.M349V missense 0.00002471
95. 23884907 c.5088G>C p.E1696D missense 0.00002471
96. 23898993 c.1129G>A p.G377S missense 0.00002471
97. 23884930 c.5065C>T p.R1689C missense 0.00002471
98. 23901869 c.481G>A p.A161T missense 0.00002471
99. 23886394 c.4487A>C p.E1496A missense 0.00002471
100. 23895023 c.2167C>T p.R723C missense 0.00002471
101. 23884905 c.5090G>A p.R1697Q missense 0.00002471
102. 23886446 c.4435A>G p.T1479A missense 0.00002471
103. 23900977 c.632C>T p.P211L missense 0.00002471
104. 23884644 c.5229G>T p.E1743D missense 0.00002471
105. 23885343 c.4823G>A p.R1608H missense 0.00002471
106. 23891496 c.3138G>A p.M1046I missense 0.00002471
107. 23887611 c.3977A>G p.K1326R missense 0.00001734
108. 23887594 c.3994G>A p.A1332T missense 0.00001699
109. 23896794 c.1888C>T p.P630S missense 0.00001691
110. 23885506 c.4660G>C p.E1554Q missense 0.00001669
111. 23895255 c.2080C>T p.R694C missense 0.00001659
112. 23887558 c.4030C>T p.R1344W missense 0.00001659
113. 23902931 c.11C>T p.S4L missense 0.00001656
114. 23885479 c.4687C>G p.L1563V missense 0.00001654
115. 23896513 c.1892T>C p.I631T missense 0.00001654
116. 23884227 c.5536C>T p.R1846C missense 0.00001653
117. 23884256 c.5507C>G p.S1836W missense 0.00001650
118. 23885457 c.4709C>A p.A1570E missense 0.00001649
119. 23890229 c.3274G>A p.A1092T missense 0.00001649
120. 23902781 c.161G>A p.R54Q missense 0.00001649
121. 23884263 c.5500G>T p.A1834S missense 0.00001649
122. 23890235 c.3268C>G p.L1090V missense 0.00001649
123. 23896042 c.1988G>A p.R663H missense 0.00001648
124. 23894058 c.2599G>A p.E867K missense 0.00001648
125. 23884929 c.5066G>A p.R1689H missense 0.00001648
126. 23886150 c.4571A>C p.H1524P missense 0.00001648
127. 23894021 c.2636C>A p.S879Y missense 0.00001648
128. 23886764 c.4301G>A p.R1434H missense 0.00001648
129. 23886855 c.4210G>A p.V1404M missense 0.00001648
130. 23891501 c.3133C>T p.R1045C missense 0.00001648
131. 23894566 c.2348G>A p.R783H missense 0.00001648
132. 23886827 c.4238C>T p.S1413L missense 0.00001648
133. 23894557 c.2357C>T p.T786M missense 0.00001648
134. 23891434 c.3200T>C p.M1067T missense 0.00001648
135. 23884311 c.5452C>T p.R1818W missense 0.00001648
136. 23884966 c.5029C>T p.R1677C missense 0.00001648
137. 23884930 c.5065C>G p.R1689G missense 0.00001648
138. 23891500 c.3134G>T p.R1045L missense 0.00001648
139. 23886846 c.4219G>A p.V1407I missense 0.00001648
140. 23884982 c.5013C>G p.I1671M missense 0.00001648
141. 23902370 c.268A>G p.M90V missense 0.00001647
142. 23892797 c.3058C>A p.L1020M missense 0.00001647
143. 23892761 c.3094G>A p.D1032N missense 0.00001647
144. 23897071 c.1611G>C p.E537D missense 0.00001647
145. 23892818 c.3037G>A p.E1013K missense 0.00001647
146. 23884642 c.5231C>T p.A1744V missense 0.00001647
147. 23891482 c.3152C>T p.A1051V missense 0.00001647
148. 23886176 c.4545G>C p.Q1515H missense 0.00001647
149. 23898256 c.1315A>T p.M439L missense 0.00001647
150. 23883054 c.5704G>A p.E1902K missense 0.00001647
151. 23902385 c.253G>C p.D85H missense 0.00001647
152. 23896973 c.1709A>G p.K570R missense 0.00001647
153. 23886400 c.4481A>T p.H1494L missense 0.00001647
154. 23893234 c.2804A>T p.E935V missense 0.00001647
155. 23893273 c.2765T>C p.M922T missense 0.00001647
156. 23883069 c.5689C>T p.R1897C missense 0.00001647
157. 23884594 c.5279C>T p.T1760M missense 0.00001647
158. 23900868 c.658A>G p.I220V missense 0.00001647
159. 23901008 c.601A>T p.I201F missense 0.00001647
160. 23888502 c.3856G>A p.E1286K missense 0.00001647
161. 23898237 c.1334C>T p.A445V missense 0.00001647
162. 23893216 c.2822G>A p.R941H missense 0.00001647
163. 23885263 c.4903A>G p.M1635V missense 0.00001647
164. 23898246 c.1325G>A p.R442H missense 0.00001647
165. 23902340 c.298G>A p.A100T missense 0.00001647
166. 23901688 c.530C>T p.T177I missense 0.00001647
167. 23901908 c.442A>G p.S148G missense 0.00001647
168. 23893262 c.2776C>G p.L926V missense 0.00001647
169. 23893251 c.2787G>C p.E929D missense 0.00001647
170. 23901020 c.589G>A p.V197I missense 0.00001647
171. 23886196 c.4525A>C p.I1509L missense 0.00001647
172. 23884672 c.5201T>G p.L1734R missense 0.00001647
173. 23888716 c.3829C>T p.R1277W missense 0.00001647
174. 23892881 c.2974C>A p.L992M missense 0.00001647
175. 23897052 c.1630A>G p.T544A missense 0.00001647
176. 23886422 c.4459G>A p.A1487T missense 0.00001647
177. 23898449 c.1246A>C p.N416H missense 0.00001647
178. 23896982 c.1700G>A p.R567H missense 0.00001647
179. 23889287 c.3493A>G p.K1165E missense 0.00001267
180. 23889404 c.3376C>T p.R1126C missense 0.00001022
181. 23889430 c.3350A>T p.E1117V missense 0.00000976
182. 23887614 c.3974C>G p.A1325G missense 0.00000873
183. 23887585 c.4003T>G p.S1335A missense 0.00000842
184. 23895283 c.2052G>A p.M684I missense 0.00000840
185. 23899800 c.968T>G p.I323S missense 0.00000839
186. 23887579 c.4009C>T p.R1337W missense 0.00000838
187. 23885510 c.4656G>T p.E1552D missense 0.00000836
188. 23899810 c.958G>A p.V320M missense 0.00000835
189. 23887570 c.4018T>C p.C1340R missense 0.00000832
190. 23899819 c.949G>C p.E317Q missense 0.00000832
191. 23887567 c.4021G>T p.D1341Y missense 0.00000831
192. 23899870 c.898A>T p.M300L missense 0.00000831
193. 23887567 c.4021G>A p.D1341N missense 0.00000831
194. 23885494 c.4672A>T p.I1558F missense 0.00000830
195. 23887565 c.4023C>A p.D1341E missense 0.00000830
196. 23885488 c.4678C>T p.R1560W missense 0.00000829
197. 23899858 c.910A>T p.T304S missense 0.00000829
198. 23899832 c.936C>A p.F312L missense 0.00000829
199. 23899834 c.934T>C p.F312L missense 0.00000829
200. 23896451 c.1954A>G p.R652G missense 0.00000829
201. 23899855 c.913A>C p.N305H missense 0.00000829
202. 23886885 c.4180G>A p.A1394T missense 0.00000829
203. 23899852 c.916A>G p.N306D missense 0.00000829
204. 23885487 c.4679G>A p.R1560Q missense 0.00000828
205. 23886878 c.4187G>A p.R1396Q missense 0.00000827
206. 23902920 c.22G>A p.V8I missense 0.00000827
207. 23887548 c.4040A>G p.Y1347C missense 0.00000827
208. 23896509 c.1896G>T p.E632D missense 0.00000827
209. 23902920 c.22G>C p.V8L missense 0.00000827
210. 23896492 c.1913C>T p.A638V missense 0.00000827
211. 23886509 c.4372C>G p.Q1458E missense 0.00000826
212. 23884226 c.5537G>A p.R1846H missense 0.00000826
213. 23896823 c.1859T>A p.L620Q missense 0.00000826
214. 23884233 c.5530G>A p.E1844K missense 0.00000826
215. 23887527 c.4061A>G p.K1354R missense 0.00000825
216. 23886115 c.4606G>A p.E1536K missense 0.00000825
217. 23896059 c.1971G>T p.K657N missense 0.00000825
218. 23887513 c.4075C>T p.R1359C missense 0.00000825
219. 23901953 c.397G>A p.V133M missense 0.00000825
220. 23894602 c.2312G>C p.G771A missense 0.00000825
221. 23884260 c.5503G>C p.E1835Q missense 0.00000825
222. 23886118 c.4603G>A p.A1535T missense 0.00000825
223. 23885041 c.4954G>A p.D1652N missense 0.00000825
224. 23893357 c.2681A>T p.E894V missense 0.00000825
225. 23885459 c.4707G>C p.K1569N missense 0.00000825
226. 23902888 c.54G>C p.K18N missense 0.00000825
227. 23887525 c.4063G>A p.A1355T missense 0.00000825
228. 23886869 c.4196A>G p.E1399G missense 0.00000825
229. 23895986 c.2044G>A p.G682R missense 0.00000825
230. 23896055 c.1975A>G p.M659V missense 0.00000825
231. 23902901 c.41C>T p.P14L missense 0.00000825
232. 23900184 c.821T>C p.I274T missense 0.00000825
233. 23893147 c.2891T>C p.V964A missense 0.00000824
234. 23894063 c.2594A>G p.K865R missense 0.00000824
235. 23892845 c.3010C>G p.Q1004E missense 0.00000824
236. 23885223 c.4943G>A p.S1648N missense 0.00000824
237. 23902866 c.76G>A p.A26T missense 0.00000824
238. 23883265 c.5606A>G p.D1869G missense 0.00000824
239. 23902804 c.138T>A p.F46L missense 0.00000824
240. 23897768 c.1519G>A p.E507K missense 0.00000824
241. 23886779 c.4286T>C p.M1429T missense 0.00000824
242. 23884969 c.5026C>T p.R1676W missense 0.00000824
243. 23883021 c.5737G>A p.A1913T missense 0.00000824
244. 23882975 c.5783G>A p.G1928D missense 0.00000824
245. 23900820 c.706G>A p.V236I missense 0.00000824
246. 23900817 c.709C>T p.R237W missense 0.00000824
247. 23896953 c.1729T>C p.F577L missense 0.00000824
248. 23884686 c.5187G>T p.K1729N missense 0.00000824
249. 23892850 c.3005C>T p.A1002V missense 0.00000824
250. 23901044 c.565A>C p.K189Q missense 0.00000824
251. 23890220 c.3283G>A p.E1095K missense 0.00000824
252. 23884890 c.5105C>A p.A1702E missense 0.00000824
253. 23893992 c.2665C>T p.L889F missense 0.00000824
254. 23884475 c.5288C>T p.A1763V missense 0.00000824
255. 23884421 c.5342G>A p.R1781H missense 0.00000824
256. 23885343 c.4823G>T p.R1608L missense 0.00000824
257. 23884315 c.5448A>C p.E1816D missense 0.00000824
258. 23885305 c.4861G>A p.D1621N missense 0.00000824
259. 23894096 c.2561A>C p.E854A missense 0.00000824
260. 23899036 c.1086G>T p.M362I missense 0.00000824
261. 23893272 c.2766G>T p.M922I missense 0.00000824
262. 23893226 c.2812G>T p.A938S missense 0.00000824
263. 23883062 c.5696T>C p.V1899A missense 0.00000824
264. 23896910 c.1772T>C p.I591T missense 0.00000824
265. 23902781 c.161G>T p.R54L missense 0.00000824
266. 23898994 c.1128C>A p.D376E missense 0.00000824
267. 23897001 c.1681G>T p.A561S missense 0.00000824
268. 23887429 c.4159G>C p.E1387Q missense 0.00000824
269. 23885011 c.4984C>T p.R1662C missense 0.00000824
270. 23884999 c.4996G>A p.D1666N missense 0.00000824
271. 23884616 c.5257G>A p.E1753K missense 0.00000824
272. 23901905 c.445G>A p.E149K missense 0.00000824
273. 23891485 c.3149G>C p.R1050P missense 0.00000824
274. 23886744 c.4321G>T p.A1441S missense 0.00000824
275. 23884941 c.5054T>A p.L1685Q missense 0.00000824
276. 23886440 c.4441C>T p.L1481F missense 0.00000824
277. 23900130 c.875A>C p.N292T missense 0.00000824
278. 23902298 c.340A>T p.I114F missense 0.00000824
279. 23896926 c.1756G>A p.V586M missense 0.00000824
280. 23888796 c.3749G>A p.R1250Q missense 0.00000824
281. 23886717 c.4348G>A p.D1450N missense 0.00000824
282. 23900672 c.751C>T p.H251Y missense 0.00000824
283. 23902767 c.175G>A p.V59I missense 0.00000824
284. 23893349 c.2689A>C p.N897H missense 0.00000824
285. 23888450 c.3908G>A p.R1303Q missense 0.00000824
286. 23885386 c.4780G>C p.V1594L missense 0.00000824
287. 23884394 c.5369T>C p.I1790T missense 0.00000824
288. 23902818 c.124G>A p.D42N missense 0.00000824
289. 23898166 c.1405G>A p.D469N missense 0.00000824
290. 23893192 c.2846A>T p.E949V missense 0.00000824
291. 23892766 c.3089A>G p.Q1030R missense 0.00000824
292. 23883032 c.5726G>A p.R1909Q missense 0.00000824
293. 23883098 c.5660A>G p.E1887G missense 0.00000824
294. 23898247 c.1324C>T p.R442C missense 0.00000824
295. 23902758 c.184G>A p.E62K missense 0.00000824
296. 23882984 c.5774G>A p.R1925H missense 0.00000824
297. 23900798 c.728G>A p.R243H missense 0.00000824
298. 23892799 c.3056C>A p.T1019N missense 0.00000824
299. 23894984 c.2206A>G p.I736V missense 0.00000824
300. 23892805 c.3050T>C p.V1017A missense 0.00000824
301. 23886849 c.4216G>A p.A1406T missense 0.00000824
302. 23892883 c.2972A>G p.K991R missense 0.00000824
303. 23888757 c.3788C>A p.A1263E missense 0.00000824
304. 23901068 c.541G>A p.G181R missense 0.00000824
305. 23901907 c.443G>T p.S148I missense 0.00000824
306. 23884890 c.5105C>T p.A1702V missense 0.00000824
307. 23894543 c.2371C>A p.Q791K missense 0.00000824
308. 23894514 c.2400G>T p.E800D missense 0.00000824
309. 23888763 c.3782G>A p.S1261N missense 0.00000824
310. 23894084 c.2573G>T p.R858L missense 0.00000824
311. 23888736 c.3809T>C p.V1270A missense 0.00000824
312. 23883269 c.5602G>C p.V1868L missense 0.00000824
313. 23884460 c.5303A>T p.E1768V missense 0.00000824
314. 23885225 c.4941G>C p.Q1647H missense 0.00000824
315. 23885345 c.4821C>A p.S1607R missense 0.00000824
316. 23884344 c.5419G>A p.G1807S missense 0.00000824
317. 23884296 c.5467G>C p.E1823Q missense 0.00000824
318. 23895013 c.2177A>G p.N726S missense 0.00000824
319. 23885002 c.4993G>A p.D1665N missense 0.00000824
320. 23896955 c.1727A>G p.H576R missense 0.00000824
321. 23893328 c.2710C>T p.R904C missense 0.00000824
322. 23897081 c.1601T>C p.L534P missense 0.00000824
323. 23892873 c.2982G>C p.K994N missense 0.00000824
324. 23891465 c.3169G>A p.G1057S missense 0.00000824
325. 23897020 c.1662C>A p.D554E missense 0.00000824
326. 23887447 c.4141C>G p.Q1381E missense 0.00000824
327. 23896928 c.1754T>C p.I585T missense 0.00000824
328. 23886807 c.4258C>T p.R1420W missense 0.00000824
329. 23896894 c.1788G>C p.K596N missense 0.00000824
330. 23891497 c.3137T>G p.M1046R missense 0.00000824
331. 23884956 c.5039T>C p.L1680P missense 0.00000824
332. 23895201 c.2134C>T p.R712C missense 0.00000824
333. 23902295 c.343T>C p.Y115H missense 0.00000824
334. 23886185 c.4536G>C p.L1512F missense 0.00000824
335. 23884865 c.5130T>G p.S1710R missense 0.00000824
336. 23886163 c.4558G>A p.G1520R missense 0.00000824
337. 23884643 c.5230G>T p.A1744S missense 0.00000824
338. 23890185 c.3318G>T p.K1106N missense 0.00000824
339. 23884269 c.5494C>G p.R1832G missense 0.00000824
340. 23896033 c.1997A>G p.H666R missense 0.00000824
341. 23885415 c.4751A>G p.E1584G missense 0.00000824
342. 23884400 c.5363A>G p.Q1788R missense 0.00000824
343. 23894201 c.2456G>A p.R819Q missense 0.00000824
344. 23891426 c.3208G>A p.E1070K missense 0.00000824
345. 23888475 c.3883G>A p.E1295K missense 0.00000824
346. 23898996 c.1126G>C p.D376H missense 0.00000824
347. 23902851 c.91T>C p.F31L missense 0.00000824
348. 23885335 c.4831G>T p.A1611S missense 0.00000824
349. 23894049 c.2608C>T p.R870C missense 0.00000824
350. 23896980 c.1702A>G p.N568D missense 0.00000824
351. 23892809 c.3046A>G p.K1016E missense 0.00000824
352. 23884978 c.5017A>G p.I1673V missense 0.00000824
353. 23883284 c.5587C>T p.R1863W missense 0.00000824
354. 23902767 c.175G>T p.V59F missense 0.00000824
355. 23886410 c.4471T>A p.S1491T missense 0.00000824
356. 23888815 c.3730A>C p.N1244H missense 0.00000824
357. 23901850 c.500C>G p.T167R missense 0.00000824
358. 23891405 c.3229G>T p.D1077Y missense 0.00000824
359. 23900152 c.853A>G p.I285V missense 0.00000824
360. 23886132 c.4589G>A p.R1530Q missense 0.00000824
361. 23884639 c.5234T>C p.V1745A missense 0.00000824
362. 23884651 c.5222T>C p.V1741A missense 0.00000824
363. 23899089 c.1033G>A p.E345K missense 0.00000824
364. 23893276 c.2762A>C p.E921A missense 0.00000824
365. 23884377 c.5386C>T p.R1796W missense 0.00000824
366. 23891398 c.3236G>A p.R1079Q missense 0.00000824
367. 23894084 c.2573G>A p.R858H missense 0.00000824
368. 23892827 c.3028C>T p.L1010F missense 0.00000824
369. 23883071 c.5687T>C p.F1896S missense 0.00000824
370. 23902782 c.160C>G p.R54G missense 0.00000824
371. 23897094 c.1588A>G p.I530V missense 0.00000824
372. 23892887 c.2968G>A p.A990T missense 0.00000824
373. 23898464 c.1231G>A p.V411I missense 0.00000824
374. 23902340 c.298G>T p.A100S missense 0.00000824
375. 23896952 c.1730T>C p.F577S missense 0.00000824
376. 23892787 c.3068C>T p.A1023V missense 0.00000824
377. 23884458 c.5305C>A p.L1769M missense 0.00000824
378. 23896916 c.1766A>G p.N589S missense 0.00000824
379. 23886773 c.4292A>G p.D1431G missense 0.00000824
380. 23884963 c.5032A>C p.N1678H missense 0.00000824
381. 23882997 c.5761C>T p.R1921W missense 0.00000824
382. 23888796 c.3749G>C p.R1250P missense 0.00000824
383. 23901922 c.428G>A p.R143Q missense 0.00000824
384. 23884876 c.5119A>T p.I1707F missense 0.00000824
385. 23890209 c.3294G>C p.Q1098H missense 0.00000824
386. 23893980 c.2677G>A p.A893T missense 0.00000824
387. 23884470 c.5293A>G p.M1765V missense 0.00000824
388. 23884415 c.5348A>G p.K1783R missense 0.00000824
389. 23894494 c.2420G>A p.R807H missense 0.00000824
390. 23894205 c.2452A>G p.I818V missense 0.00000824
391. 23884265 c.5498A>G p.N1833S missense 0.00000824
392. 23899027 c.1095G>T p.K365N missense 0.00000824
393. 23898309 c.1262T>C p.I421T missense 0.00000824
394. 23893217 c.2821C>A p.R941S missense 0.00000824
395. 23902776 c.166G>A p.G56S missense 0.00000824
396. 23883283 c.5588G>A p.R1863Q missense 0.00000824
397. 23902430 c.208A>T p.T70S missense 0.00000824
398. 23896983 c.1699C>T p.R567C missense 0.00000824
399. 23892815 c.3040G>A p.E1014K missense 0.00000824
400. 23883059 c.5699A>T p.Q1900L missense 0.00000824
401. 23884304 c.5459G>A p.R1820Q missense 0.00000824
402. 23897840 c.1447G>A p.E483K missense 0.00000824
403. 23898201 c.1370T>C p.I457T missense 0.00000824
404. 23891438 c.3196A>G p.I1066V missense 0.00000824
405. 23884921 c.5074G>T p.V1692L missense 0.00000824
406. 23902297 c.341T>C p.I114T missense 0.00000824
407. 23884860 c.5135G>A p.R1712Q missense 0.00000824
408. 23901885 c.465C>A p.F155L missense 0.00000824
409. 23888748 c.3797C>A p.T1266N missense 0.00000824
410. 23886133 c.4588C>G p.R1530G missense 0.00000824
411. 23884642 c.5231C>A p.A1744E missense 0.00000824
412. 23900886 c.640G>A p.G214S missense 0.00000824
413. 23885020 c.4975G>A p.D1659N missense 0.00000824
414. 23894567 c.2347C>T p.R783C missense 0.00000824
415. 23888767 c.3778C>T p.R1260W missense 0.00000824
416. 23886168 c.4553C>A p.S1518Y missense 0.00000824
417. 23899104 c.1018G>A p.G340S missense 0.00000824
418. 23893289 c.2749G>A p.A917T missense 0.00000824
419. 23885380 c.4786T>C p.S1596P missense 0.00000824
420. 23884389 c.5374G>A p.D1792N missense 0.00000824
421. 23891466 c.3168G>C p.E1056D 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.