MYH7 protein-altering variants in ExAC


The table below lists the MYH7 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. 23885449 c.4717G>A p.E1573K missense 0.00008241
2. 23886458 c.4423C>T p.R1475C missense 0.00008239
3. 23884924 c.5071G>A p.V1691M missense 0.00008238
4. 23888742 c.3803G>A p.R1268H missense 0.00008237
5. 23899800 c.968T>C p.I323T missense 0.00007549
6. 23902914 c.28G>C p.G10R missense 0.00007434
7. 23891476 c.3158G>A p.R1053Q missense 0.00007414
8. 23883054 c.5704G>C p.E1902Q missense 0.00007413
9. 23899792 c.976G>C p.A326P missense 0.00006783
10. 23890202 c.3301G>A p.G1101S missense 0.00006593
11. 23887510 c.4078G>A p.V1360I missense 0.00005773
12. 23885010 c.4985G>A p.R1662H missense 0.00005769
13. 23902827 c.115G>A p.V39M missense 0.00005768
14. 23894555 c.2359C>T p.R787C missense 0.00005767
15. 23885257 c.4909G>A p.A1637T missense 0.00005766
16. 23894232 c.2425G>T p.D809Y missense 0.00004950
17. 23884256 c.5507C>T p.S1836L missense 0.00004949
18. 23884263 c.5500G>A p.A1834T missense 0.00004947
19. 23884269 c.5494C>T p.R1832C missense 0.00004946
20. 23891399 c.3235C>T p.R1079W missense 0.00004944
21. 23884965 c.5030G>A p.R1677H missense 0.00004943
22. 23884630 c.5243G>A p.C1748Y missense 0.00004942
23. 23885349 c.4817G>A p.R1606H missense 0.00004942
24. 23886771 c.4294G>A p.V1432I missense 0.00004942
25. 23901923 c.427C>T p.R143W missense 0.00004942
26. 23887606 c.3982G>A p.A1328T missense 0.00004312
27. 23902000 c.350A>T p.Y117F missense 0.00004127
28. 23887498 c.4090G>A p.A1364T missense 0.00004122
29. 23902427 c.211G>A p.V71M missense 0.00004119
30. 23885379 c.4787C>T p.S1596L missense 0.00004118
31. 23884476 c.5287G>A p.A1763T missense 0.00004118
32. 23885272 c.4894G>A p.A1632T missense 0.00004118
33. 23897001 c.1681G>A p.A561T missense 0.00004118
34. 23884434 c.5329G>A p.A1777T missense 0.00004118
35. 23892820 c.3035C>A p.A1012D missense 0.00004118
36. 23888715 c.3830G>A p.R1277Q missense 0.00004118
37. 23887584 c.4004C>T p.S1335L missense 0.00003364
38. 23895275 c.2060C>A p.P687H missense 0.00003343
39. 23887536 c.4052C>T p.T1351M missense 0.00003304
40. 23896826 c.1856C>T p.T619I missense 0.00003302
41. 23883310 c.5561C>T p.T1854M missense 0.00003302
42. 23887512 c.4076G>A p.R1359H missense 0.00003299
43. 23882979 c.5779A>T p.I1927F missense 0.00003297
44. 23884268 c.5495G>A p.R1832H missense 0.00003297
45. 23894525 c.2389G>A p.A797T missense 0.00003296
46. 23883033 c.5725C>T p.R1909W missense 0.00003295
47. 23884670 c.5203T>A p.S1735T missense 0.00003295
48. 23884437 c.5326A>G p.S1776G missense 0.00003295
49. 23885217 c.4949T>C p.L1650S missense 0.00003295
50. 23884341 c.5422G>A p.G1808S missense 0.00003295
51. 23888766 c.3779G>A p.R1260Q missense 0.00003295
52. 23886782 c.4283T>C p.L1428S missense 0.00003295
53. 23894072 c.2585C>T p.A862V missense 0.00003295
54. 23884981 c.5014G>A p.A1672T missense 0.00003295
55. 23894051 c.2606G>A p.R869H missense 0.00003295
56. 23885247 c.4919A>T p.Q1640L missense 0.00003295
57. 23891500 c.3134G>A p.R1045H missense 0.00003295
58. 23888744 c.3801G>C p.Q1267H missense 0.00003295
59. 23887614 c.3974C>T p.A1325V missense 0.00002618
60. 23899843 c.925G>A p.D309N missense 0.00002486
61. 23902925 c.17T>C p.M6T missense 0.00002482
62. 23882071 c.5800G>A p.E1934K missense 0.00002480
63. 23885041 c.4954G>T p.D1652Y missense 0.00002475
64. 23882972 c.5786C>T p.T1929M missense 0.00002474
65. 23902292 c.345+1G>A essential splice site 0.00002473
66. 23887491 c.4097C>T p.S1366L missense 0.00002473
67. 23902875 c.67C>T p.R23W missense 0.00002473
68. 23884305 c.5458C>T p.R1820W missense 0.00002472
69. 23885445 c.4721G>A p.R1574Q missense 0.00002472
70. 23902310 c.328G>A p.G110S missense 0.00002472
71. 23884278 c.5485G>A p.E1829K missense 0.00002472
72. 23885003 c.4992C>A p.N1664K missense 0.00002472
73. 23884305 c.5458C>G p.R1820G missense 0.00002472
74. 23898993 c.1129G>A p.G377S missense 0.00002471
75. 23884975 c.5020G>A p.V1674M missense 0.00002471
76. 23888768 c.3777C>A p.H1259Q missense 0.00002471
77. 23888731 c.3814G>A p.D1272N missense 0.00002471
78. 23901869 c.481G>A p.A161T missense 0.00002471
79. 23885343 c.4823G>A p.R1608H missense 0.00002471
80. 23884930 c.5065C>T p.R1689C missense 0.00002471
81. 23900977 c.632C>T p.P211L missense 0.00002471
82. 23886382 c.4499G>A p.R1500Q missense 0.00002471
83. 23899077 c.1045A>G p.M349V missense 0.00002471
84. 23885262 c.4904T>C p.M1635T missense 0.00002471
85. 23891496 c.3138G>A p.M1046I missense 0.00002471
86. 23884905 c.5090G>A p.R1697Q missense 0.00002471
87. 23884907 c.5088G>C p.E1696D missense 0.00002471
88. 23886394 c.4487A>C p.E1496A missense 0.00002471
89. 23886446 c.4435A>G p.T1479A missense 0.00002471
90. 23895023 c.2167C>T p.R723C missense 0.00002471
91. 23884644 c.5229G>T p.E1743D missense 0.00002471
92. 23900999 c.610C>T p.R204C missense 0.00002471
93. 23887611 c.3977A>G p.K1326R missense 0.00001734
94. 23887594 c.3994G>A p.A1332T missense 0.00001699
95. 23896794 c.1888C>T p.P630S missense 0.00001691
96. 23885506 c.4660G>C p.E1554Q missense 0.00001669
97. 23895255 c.2080C>T p.R694C missense 0.00001659
98. 23887558 c.4030C>T p.R1344W missense 0.00001659
99. 23902931 c.11C>T p.S4L missense 0.00001656
100. 23896513 c.1892T>C p.I631T missense 0.00001654
101. 23885479 c.4687C>G p.L1563V missense 0.00001654
102. 23884227 c.5536C>T p.R1846C missense 0.00001653
103. 23884256 c.5507C>G p.S1836W missense 0.00001650
104. 23902781 c.161G>A p.R54Q missense 0.00001649
105. 23885457 c.4709C>A p.A1570E missense 0.00001649
106. 23890235 c.3268C>G p.L1090V missense 0.00001649
107. 23890229 c.3274G>A p.A1092T missense 0.00001649
108. 23884263 c.5500G>T p.A1834S missense 0.00001649
109. 23884311 c.5452C>T p.R1818W missense 0.00001648
110. 23884929 c.5066G>A p.R1689H missense 0.00001648
111. 23886846 c.4219G>A p.V1407I missense 0.00001648
112. 23891500 c.3134G>T p.R1045L missense 0.00001648
113. 23896042 c.1988G>A p.R663H missense 0.00001648
114. 23891434 c.3200T>C p.M1067T missense 0.00001648
115. 23894566 c.2348G>A p.R783H missense 0.00001648
116. 23894021 c.2636C>A p.S879Y missense 0.00001648
117. 23884982 c.5013C>G p.I1671M missense 0.00001648
118. 23884930 c.5065C>G p.R1689G missense 0.00001648
119. 23891501 c.3133C>T p.R1045C missense 0.00001648
120. 23886764 c.4301G>A p.R1434H missense 0.00001648
121. 23894058 c.2599G>A p.E867K missense 0.00001648
122. 23894557 c.2357C>T p.T786M missense 0.00001648
123. 23886150 c.4571A>C p.H1524P missense 0.00001648
124. 23886827 c.4238C>T p.S1413L missense 0.00001648
125. 23886855 c.4210G>A p.V1404M missense 0.00001648
126. 23884966 c.5029C>T p.R1677C missense 0.00001648
127. 23883054 c.5704G>A p.E1902K missense 0.00001647
128. 23897052 c.1630A>G p.T544A missense 0.00001647
129. 23901688 c.530C>T p.T177I missense 0.00001647
130. 23898256 c.1315A>T p.M439L missense 0.00001647
131. 23885263 c.4903A>G p.M1635V missense 0.00001647
132. 23886196 c.4525A>C p.I1509L missense 0.00001647
133. 23902385 c.253G>C p.D85H missense 0.00001647
134. 23892881 c.2974C>A p.L992M missense 0.00001647
135. 23901908 c.442A>G p.S148G missense 0.00001647
136. 23901008 c.601A>T p.I201F missense 0.00001647
137. 23884642 c.5231C>T p.A1744V missense 0.00001647
138. 23886422 c.4459G>A p.A1487T missense 0.00001647
139. 23892797 c.3058C>A p.L1020M missense 0.00001647
140. 23902340 c.298G>A p.A100T missense 0.00001647
141. 23897071 c.1611G>C p.E537D missense 0.00001647
142. 23900868 c.658A>G p.I220V missense 0.00001647
143. 23893273 c.2765T>C p.M922T missense 0.00001647
144. 23891482 c.3152C>T p.A1051V missense 0.00001647
145. 23893262 c.2776C>G p.L926V missense 0.00001647
146. 23892818 c.3037G>A p.E1013K missense 0.00001647
147. 23892761 c.3094G>A p.D1032N missense 0.00001647
148. 23901020 c.589G>A p.V197I missense 0.00001647
149. 23893234 c.2804A>T p.E935V missense 0.00001647
150. 23898449 c.1246A>C p.N416H missense 0.00001647
151. 23886176 c.4545G>C p.Q1515H missense 0.00001647
152. 23888691 c.3853+1G>A essential splice site 0.00001647
153. 23896973 c.1709A>G p.K570R missense 0.00001647
154. 23888502 c.3856G>A p.E1286K missense 0.00001647
155. 23893216 c.2822G>A p.R941H missense 0.00001647
156. 23884594 c.5279C>T p.T1760M missense 0.00001647
157. 23886400 c.4481A>T p.H1494L missense 0.00001647
158. 23898237 c.1334C>T p.A445V missense 0.00001647
159. 23884672 c.5201T>G p.L1734R missense 0.00001647
160. 23896982 c.1700G>A p.R567H missense 0.00001647
161. 23893251 c.2787G>C p.E929D missense 0.00001647
162. 23888716 c.3829C>T p.R1277W missense 0.00001647
163. 23902370 c.268A>G p.M90V missense 0.00001647
164. 23898246 c.1325G>A p.R442H missense 0.00001647
165. 23883069 c.5689C>T p.R1897C missense 0.00001647
166. 23889287 c.3493A>G p.K1165E missense 0.00001267
167. 23889404 c.3376C>T p.R1126C missense 0.00001022
168. 23889430 c.3350A>T p.E1117V missense 0.00000976
169. 23889431 c.3349G>T p.E1117X nonsense 0.00000974
170. 23887614 c.3974C>G p.A1325G missense 0.00000873
171. 23896793 c.1888+1G>A essential splice site 0.00000848
172. 23887585 c.4003T>G p.S1335A missense 0.00000842
173. 23895283 c.2052G>A p.M684I missense 0.00000840
174. 23899800 c.968T>G p.I323S missense 0.00000839
175. 23887579 c.4009C>T p.R1337W missense 0.00000838
176. 23885510 c.4656G>T p.E1552D missense 0.00000836
177. 23899810 c.958G>A p.V320M missense 0.00000835
178. 23887570 c.4018T>C p.C1340R missense 0.00000832
179. 23899819 c.949G>C p.E317Q missense 0.00000832
180. 23887567 c.4021G>T p.D1341Y missense 0.00000831
181. 23899870 c.898A>T p.M300L missense 0.00000831
182. 23887567 c.4021G>A p.D1341N missense 0.00000831
183. 23885494 c.4672A>T p.I1558F missense 0.00000830
184. 23887565 c.4023C>A p.D1341E missense 0.00000830
185. 23899832 c.936C>A p.F312L missense 0.00000829
186. 23899852 c.916A>G p.N306D missense 0.00000829
187. 23885488 c.4678C>T p.R1560W missense 0.00000829
188. 23899834 c.934T>C p.F312L missense 0.00000829
189. 23899855 c.913A>C p.N305H missense 0.00000829
190. 23886885 c.4180G>A p.A1394T missense 0.00000829
191. 23899858 c.910A>T p.T304S missense 0.00000829
192. 23896451 c.1954A>G p.R652G missense 0.00000829
193. 23885487 c.4679G>A p.R1560Q missense 0.00000828
194. 23886878 c.4187G>A p.R1396Q missense 0.00000827
195. 23887548 c.4040A>G p.Y1347C missense 0.00000827
196. 23896492 c.1913C>T p.A638V missense 0.00000827
197. 23896509 c.1896G>T p.E632D missense 0.00000827
198. 23902920 c.22G>A p.V8I missense 0.00000827
199. 23896511 c.1894G>T p.E632X nonsense 0.00000827
200. 23902920 c.22G>C p.V8L missense 0.00000827
201. 23884233 c.5530G>A p.E1844K missense 0.00000826
202. 23896823 c.1859T>A p.L620Q missense 0.00000826
203. 23886509 c.4372C>G p.Q1458E missense 0.00000826
204. 23884226 c.5537G>A p.R1846H missense 0.00000826
205. 23902888 c.54G>C p.K18N missense 0.00000825
206. 23886491 c.4390C>T p.Q1464X nonsense 0.00000825
207. 23896059 c.1971G>T p.K657N missense 0.00000825
208. 23895986 c.2044G>A p.G682R missense 0.00000825
209. 23894602 c.2312G>C p.G771A missense 0.00000825
210. 23902901 c.41C>T p.P14L missense 0.00000825
211. 23882967 c.5790+1G>A essential splice site 0.00000825
212. 23884260 c.5503G>C p.E1835Q missense 0.00000825
213. 23901953 c.397G>A p.V133M missense 0.00000825
214. 23887525 c.4063G>A p.A1355T missense 0.00000825
215. 23884259 c.5504_5505delAG p.E1835Vfs*70 frameshift 0.00000825
216. 23886118 c.4603G>A p.A1535T missense 0.00000825
217. 23886869 c.4196A>G p.E1399G missense 0.00000825
218. 23885459 c.4707G>C p.K1569N missense 0.00000825
219. 23893357 c.2681A>T p.E894V missense 0.00000825
220. 23893360 c.2680-2A>G essential splice site 0.00000825
221. 23900184 c.821T>C p.I274T missense 0.00000825
222. 23887527 c.4061A>G p.K1354R missense 0.00000825
223. 23887513 c.4075C>T p.R1359C missense 0.00000825
224. 23886115 c.4606G>A p.E1536K missense 0.00000825
225. 23885041 c.4954G>A p.D1652N missense 0.00000825
226. 23896055 c.1975A>G p.M659V missense 0.00000825
227. 23886163 c.4558G>A p.G1520R missense 0.00000824
228. 23902303 c.335G>A p.W112X nonsense 0.00000824
229. 23894567 c.2347C>T p.R783C missense 0.00000824
230. 23902379 c.259delA p.Ile87SerfsTer7 frameshift 0.00000824
231. 23898309 c.1262T>C p.I421T missense 0.00000824
232. 23888796 c.3749G>A p.R1250Q missense 0.00000824
233. 23892787 c.3068C>T p.A1023V missense 0.00000824
234. 23885225 c.4941G>C p.Q1647H missense 0.00000824
235. 23891405 c.3229G>T p.D1077Y missense 0.00000824
236. 23901068 c.541G>A p.G181R missense 0.00000824
237. 23893980 c.2677G>A p.A893T missense 0.00000824
238. 23893115 c.2922+1G>A essential splice site 0.00000824
239. 23893272 c.2766G>T p.M922I missense 0.00000824
240. 23894049 c.2608C>T p.R870C missense 0.00000824
241. 23884686 c.5187G>T p.K1729N missense 0.00000824
242. 23896952 c.1730T>C p.F577S missense 0.00000824
243. 23896910 c.1772T>C p.I591T missense 0.00000824
244. 23900672 c.751C>T p.H251Y missense 0.00000824
245. 23893147 c.2891T>C p.V964A missense 0.00000824
246. 23894984 c.2206A>G p.I736V missense 0.00000824
247. 23884475 c.5288C>T p.A1763V missense 0.00000824
248. 23897840 c.1447G>A p.E483K missense 0.00000824
249. 23884389 c.5374G>A p.D1792N missense 0.00000824
250. 23884304 c.5459G>A p.R1820Q missense 0.00000824
251. 23884860 c.5135G>A p.R1712Q missense 0.00000824
252. 23885002 c.4993G>A p.D1665N missense 0.00000824
253. 23899036 c.1086G>T p.M362I missense 0.00000824
254. 23892883 c.2972A>G p.K991R missense 0.00000824
255. 23892815 c.3040G>A p.E1014K missense 0.00000824
256. 23884956 c.5039T>C p.L1680P missense 0.00000824
257. 23897768 c.1519G>A p.E507K missense 0.00000824
258. 23883269 c.5602G>C p.V1868L missense 0.00000824
259. 23886133 c.4588C>G p.R1530G missense 0.00000824
260. 23884265 c.5498A>G p.N1833S missense 0.00000824
261. 23886807 c.4258C>T p.R1420W missense 0.00000824
262. 23893289 c.2749G>A p.A917T missense 0.00000824
263. 23888815 c.3730A>C p.N1244H missense 0.00000824
264. 23887429 c.4159G>C p.E1387Q missense 0.00000824
265. 23884890 c.5105C>T p.A1702V missense 0.00000824
266. 23896983 c.1699C>T p.R567C missense 0.00000824
267. 23894201 c.2456G>A p.R819Q missense 0.00000824
268. 23901922 c.428G>A p.R143Q missense 0.00000824
269. 23883071 c.5687T>C p.F1896S missense 0.00000824
270. 23882997 c.5761C>T p.R1921W missense 0.00000824
271. 23893226 c.2812G>T p.A938S missense 0.00000824
272. 23886717 c.4348G>A p.D1450N missense 0.00000824
273. 23886779 c.4286T>C p.M1429T missense 0.00000824
274. 23902851 c.91T>C p.F31L missense 0.00000824
275. 23894084 c.2573G>A p.R858H missense 0.00000824
276. 23896916 c.1766A>G p.N589S missense 0.00000824
277. 23895013 c.2177A>G p.N726S missense 0.00000824
278. 23888763 c.3782G>A p.S1261N missense 0.00000824
279. 23902767 c.175G>T p.V59F missense 0.00000824
280. 23884421 c.5342G>A p.R1781H missense 0.00000824
281. 23888450 c.3908G>A p.R1303Q missense 0.00000824
282. 23892845 c.3010C>G p.Q1004E missense 0.00000824
283. 23890185 c.3318G>T p.K1106N missense 0.00000824
284. 23886168 c.4553C>A p.S1518Y missense 0.00000824
285. 23898464 c.1231G>A p.V411I missense 0.00000824
286. 23884315 c.5448A>C p.E1816D missense 0.00000824
287. 23902888 c.54delG p.Lys18AsnfsTer7 frameshift 0.00000824
288. 23884978 c.5017A>G p.I1673V missense 0.00000824
289. 23898465 c.1230C>A p.Y410X nonsense 0.00000824
290. 23894187 c.2470delG p.Val824SerfsTer7 frameshift 0.00000824
291. 23888757 c.3788C>A p.A1263E missense 0.00000824
292. 23891438 c.3196A>G p.I1066V missense 0.00000824
293. 23901850 c.500C>G p.T167R missense 0.00000824
294. 23893992 c.2665C>T p.L889F missense 0.00000824
295. 23893328 c.2710C>T p.R904C missense 0.00000824
296. 23885380 c.4786T>C p.S1596P missense 0.00000824
297. 23883059 c.5699A>T p.Q1900L missense 0.00000824
298. 23886849 c.4216G>A p.A1406T missense 0.00000824
299. 23892799 c.3056C>A p.T1019N missense 0.00000824
300. 23884865 c.5130T>G p.S1710R missense 0.00000824
301. 23896953 c.1729T>C p.F577L missense 0.00000824
302. 23888796 c.3749G>C p.R1250P missense 0.00000824
303. 23888736 c.3809T>C p.V1270A missense 0.00000824
304. 23893192 c.2846A>T p.E949V missense 0.00000824
305. 23886744 c.4321G>T p.A1441S missense 0.00000824
306. 23902782 c.160C>G p.R54G missense 0.00000824
307. 23884394 c.5369T>C p.I1790T missense 0.00000824
308. 23884616 c.5257G>A p.E1753K missense 0.00000824
309. 23884589 c.5283+1G>A essential splice site 0.00000824
310. 23900691 c.733-1G>A essential splice site 0.00000824
311. 23884963 c.5032A>C p.N1678H missense 0.00000824
312. 23898166 c.1405G>A p.D469N missense 0.00000824
313. 23884651 c.5222T>C p.V1741A missense 0.00000824
314. 23886133 c.4588C>T p.R1530X nonsense 0.00000824
315. 23902297 c.341T>C p.I114T missense 0.00000824
316. 23894514 c.2400G>T p.E800D missense 0.00000824
317. 23883265 c.5606A>G p.D1869G missense 0.00000824
318. 23893349 c.2689A>C p.N897H missense 0.00000824
319. 23887447 c.4141C>G p.Q1381E missense 0.00000824
320. 23888411 c.3947_3948insA p.Arg1317GlufsTer8 frameshift 0.00000824
321. 23891465 c.3169G>A p.G1057S missense 0.00000824
322. 23897001 c.1681G>T p.A561S missense 0.00000824
323. 23890220 c.3283G>A p.E1095K missense 0.00000824
324. 23896926 c.1756G>A p.V586M missense 0.00000824
325. 23885343 c.4823G>T p.R1608L missense 0.00000824
326. 23900152 c.853A>G p.I285V missense 0.00000824
327. 23883021 c.5737G>A p.A1913T missense 0.00000824
328. 23902866 c.76G>A p.A26T missense 0.00000824
329. 23894063 c.2594A>G p.K865R missense 0.00000824
330. 23884643 c.5230G>T p.A1744S missense 0.00000824
331. 23892873 c.2982G>C p.K994N missense 0.00000824
332. 23886440 c.4441C>T p.L1481F missense 0.00000824
333. 23902776 c.166G>A p.G56S missense 0.00000824
334. 23884460 c.5303A>T p.E1768V missense 0.00000824
335. 23888475 c.3883G>A p.E1295K missense 0.00000824
336. 23885223 c.4943G>A p.S1648N missense 0.00000824
337. 23898996 c.1126G>C p.D376H missense 0.00000824
338. 23890209 c.3294G>C p.Q1098H missense 0.00000824
339. 23892805 c.3050T>C p.V1017A missense 0.00000824
340. 23902340 c.298G>T p.A100S missense 0.00000824
341. 23898247 c.1324C>T p.R442C missense 0.00000824
342. 23884344 c.5419G>A p.G1807S missense 0.00000824
343. 23894927 c.2263C>T p.Q755X nonsense 0.00000824
344. 23883098 c.5660A>G p.E1887G missense 0.00000824
345. 23901885 c.465C>A p.F155L missense 0.00000824
346. 23900817 c.709C>T p.R237W missense 0.00000824
347. 23894084 c.2573G>T p.R858L missense 0.00000824
348. 23895028 c.2163-1G>T essential splice site 0.00000824
349. 23897081 c.1601T>C p.L534P missense 0.00000824
350. 23891485 c.3149G>C p.R1050P missense 0.00000824
351. 23891466 c.3168G>C p.E1056D missense 0.00000824
352. 23885386 c.4780G>C p.V1594L missense 0.00000824
353. 23900886 c.640G>A p.G214S missense 0.00000824
354. 23902767 c.175G>A p.V59I missense 0.00000824
355. 23883062 c.5696T>C p.V1899A missense 0.00000824
356. 23893276 c.2762A>C p.E921A missense 0.00000824
357. 23884876 c.5119A>T p.I1707F missense 0.00000824
358. 23902804 c.138T>A p.F46L missense 0.00000824
359. 23884639 c.5234T>C p.V1745A missense 0.00000824
360. 23885305 c.4861G>A p.D1621N missense 0.00000824
361. 23882975 c.5783G>A p.G1928D missense 0.00000824
362. 23885011 c.4984C>T p.R1662C missense 0.00000824
363. 23899089 c.1033G>A p.E345K missense 0.00000824
364. 23902430 c.208A>T p.T70S missense 0.00000824
365. 23896955 c.1727A>G p.H576R missense 0.00000824
366. 23884400 c.5363A>G p.Q1788R missense 0.00000824
367. 23896033 c.1997A>G p.H666R missense 0.00000824
368. 23898994 c.1128C>A p.D376E missense 0.00000824
369. 23884296 c.5467G>C p.E1823Q missense 0.00000824
370. 23900820 c.706G>A p.V236I missense 0.00000824
371. 23901717 c.503-2A>T essential splice site 0.00000824
372. 23884969 c.5026C>T p.R1676W missense 0.00000824
373. 23892766 c.3089A>G p.Q1030R missense 0.00000824
374. 23902298 c.340A>T p.I114F missense 0.00000824
375. 23901044 c.565A>C p.K189Q missense 0.00000824
376. 23901907 c.443G>T p.S148I missense 0.00000824
377. 23891536 c.3100-2A>C essential splice site 0.00000824
378. 23891398 c.3236G>A p.R1079Q missense 0.00000824
379. 23884921 c.5074G>T p.V1692L missense 0.00000824
380. 23897020 c.1662C>A p.D554E missense 0.00000824
381. 23896928 c.1754T>C p.I585T missense 0.00000824
382. 23888767 c.3778C>T p.R1260W missense 0.00000824
383. 23898201 c.1370T>C p.I457T missense 0.00000824
384. 23885345 c.4821C>A p.S1607R missense 0.00000824
385. 23883032 c.5726G>A p.R1909Q missense 0.00000824
386. 23884269 c.5494C>G p.R1832G missense 0.00000824
387. 23900130 c.875A>C p.N292T missense 0.00000824
388. 23892887 c.2968G>A p.A990T missense 0.00000824
389. 23902781 c.161G>T p.R54L missense 0.00000824
390. 23884470 c.5293A>G p.M1765V missense 0.00000824
391. 23895201 c.2134C>T p.R712C missense 0.00000824
392. 23883284 c.5587C>T p.R1863W missense 0.00000824
393. 23884999 c.4996G>A p.D1666N missense 0.00000824
394. 23899027 c.1095G>T p.K365N missense 0.00000824
395. 23892850 c.3005C>T p.A1002V missense 0.00000824
396. 23892809 c.3046A>G p.K1016E missense 0.00000824
397. 23891426 c.3208G>A p.E1070K missense 0.00000824
398. 23886185 c.4536G>C p.L1512F missense 0.00000824
399. 23884377 c.5386C>T p.R1796W missense 0.00000824
400. 23891497 c.3137T>G p.M1046R missense 0.00000824
401. 23886132 c.4589G>A p.R1530Q missense 0.00000824
402. 23901905 c.445G>A p.E149K missense 0.00000824
403. 23900798 c.728G>A p.R243H missense 0.00000824
404. 23894205 c.2452A>G p.I818V missense 0.00000824
405. 23895172 c.2162+1G>A essential splice site 0.00000824
406. 23884941 c.5054T>A p.L1685Q missense 0.00000824
407. 23897094 c.1588A>G p.I530V missense 0.00000824
408. 23885020 c.4975G>A p.D1659N missense 0.00000824
409. 23884890 c.5105C>A p.A1702E missense 0.00000824
410. 23896980 c.1702A>G p.N568D missense 0.00000824
411. 23885415 c.4751A>G p.E1584G missense 0.00000824
412. 23902295 c.343T>C p.Y115H missense 0.00000824
413. 23893277 c.2761G>T p.E921X nonsense 0.00000824
414. 23882984 c.5774G>A p.R1925H missense 0.00000824
415. 23893217 c.2821C>A p.R941S missense 0.00000824
416. 23886773 c.4292A>G p.D1431G missense 0.00000824
417. 23902818 c.124G>A p.D42N missense 0.00000824
418. 23884642 c.5231C>A p.A1744E missense 0.00000824
419. 23896894 c.1788G>C p.K596N missense 0.00000824
420. 23894096 c.2561A>C p.E854A missense 0.00000824
421. 23888748 c.3797C>A p.T1266N missense 0.00000824
422. 23883283 c.5588G>A p.R1863Q missense 0.00000824
423. 23885335 c.4831G>T p.A1611S missense 0.00000824
424. 23888427 c.3931C>T p.Q1311X nonsense 0.00000824
425. 23884458 c.5305C>A p.L1769M missense 0.00000824
426. 23899104 c.1018G>A p.G340S missense 0.00000824
427. 23894543 c.2371C>A p.Q791K missense 0.00000824
428. 23892827 c.3028C>T p.L1010F missense 0.00000824
429. 23894494 c.2420G>A p.R807H missense 0.00000824
430. 23886410 c.4471T>A p.S1491T missense 0.00000824
431. 23902758 c.184G>A p.E62K missense 0.00000824
432. 23884415 c.5348A>G p.K1783R 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.