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

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

Genomic coordinates refer to the GRCh37 release of the human genome.