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