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

* 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.