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