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