MYH6 protein-altering variants in ExAC


The table below lists the MYH6 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. 23856794 c.4594C>T p.R1532C missense 0.00009886
2. 23867943 c.1885G>A p.D629N missense 0.00009885
3. 23874503 c.431G>T p.G144V missense 0.00009884
4. 23876318 c.115G>A p.V39M missense 0.00009061
5. 23858687 c.3893C>T p.A1298V missense 0.00009061
6. 23862173 c.3199A>G p.S1067G missense 0.00009060
7. 23851741 c.5692T>C p.F1898L missense 0.00009060
8. 23859651 c.3347G>A p.R1116H missense 0.00008985
9. 23855817 c.4666G>A p.E1556K missense 0.00008390
10. 23853697 c.5519A>G p.K1840R missense 0.00008245
11. 23853923 c.5293G>A p.A1765T missense 0.00008245
12. 23852468 c.5627A>G p.K1876R missense 0.00008241
13. 23866227 c.2113C>T p.R705C missense 0.00008241
14. 23853757 c.5459G>A p.R1820Q missense 0.00008238
15. 23863387 c.2575G>T p.G859W missense 0.00008237
16. 23862194 c.3178G>A p.D1060N missense 0.00008237
17. 23870000 c.1328G>A p.R443H missense 0.00008237
18. 23858217 c.4026C>A p.C1342X nonsense 0.00007474
19. 23865539 c.2383C>T p.R795W missense 0.00007421
20. 23871807 c.1007C>G p.A336G missense 0.00007421
21. 23858877 c.3784C>T p.R1262C missense 0.00007414
22. 23874525 c.409G>A p.E137K missense 0.00007414
23. 23855711 c.4772A>G p.N1591S missense 0.00007413
24. 23869560 c.1486G>A p.V496M missense 0.00007413
25. 23867960 c.1868C>T p.S623F missense 0.00007413
26. 23853676 c.5540G>A p.R1847Q missense 0.00006599
27. 23866253 c.2087G>A p.R696H missense 0.00006591
28. 23876272 c.161G>A p.R54Q missense 0.00006591
29. 23857395 c.4328C>A p.A1443D missense 0.00006590
30. 23863351 c.2611C>T p.R871C missense 0.00006590
31. 23853758 c.5458C>T p.R1820W missense 0.00006590
32. 23870084 c.1244G>C p.G415A missense 0.00006589
33. 23870067 c.1261G>A p.V421M missense 0.00006589
34. 23859652 c.3346C>A p.R1116S missense 0.00006301
35. 23865569 c.2353C>T p.R785C missense 0.00005780
36. 23871926 c.982G>A p.E328K missense 0.00005778
37. 23852501 c.5594G>A p.R1865Q missense 0.00005774
38. 23855205 c.5095C>T p.R1699W missense 0.00005771
39. 23855736 c.4747G>A p.E1583K missense 0.00005767
40. 23876356 c.77C>G p.A26G missense 0.00005767
41. 23865989 c.2206C>A p.Q736K missense 0.00005766
42. 23857423 c.4300G>A p.V1434I missense 0.00005766
43. 23858853 c.3808C>T p.R1270C missense 0.00005766
44. 23853868 c.5348G>A p.R1783H missense 0.00005766
45. 23855661 c.4822C>T p.R1608C missense 0.00005766
46. 23862975 c.2828G>A p.R943H missense 0.00005765
47. 23865616 c.2306C>T p.A769V missense 0.00004998
48. 23855199 c.5101C>T p.R1701W missense 0.00004948
49. 23855301 c.4999G>A p.D1667N missense 0.00004946
50. 23853731 c.5485G>C p.E1829Q missense 0.00004945
51. 23857507 c.4216G>A p.V1406M missense 0.00004943
52. 23857492 c.4231G>A p.A1411T missense 0.00004943
53. 23871766 c.1048G>A p.V350I missense 0.00004943
54. 23858903 c.3758C>T p.T1253M missense 0.00004943
55. 23874868 c.313C>A p.L105I missense 0.00004943
56. 23869981 c.1347G>T p.E449D missense 0.00004942
57. 23863087 c.2716C>T p.R906C missense 0.00004942
58. 23868200 c.1628A>G p.K543R missense 0.00004942
59. 23859652 c.3346C>T p.R1116C missense 0.00004501
60. 23872967 c.756C>G p.H252Q missense 0.00004259
61. 23855331 c.4969A>G p.I1657V missense 0.00004125
62. 23855760 c.4723G>A p.E1575K missense 0.00004124
63. 23858161 c.4082G>A p.R1361H missense 0.00004123
64. 23853703 c.5513C>T p.S1838L missense 0.00004122
65. 23858159 c.4084G>A p.V1362I missense 0.00004122
66. 23865523 c.2399G>A p.R800H missense 0.00004121
67. 23852453 c.5642A>G p.K1881R missense 0.00004120
68. 23874978 c.203C>T p.T68M missense 0.00004119
69. 23874877 c.304C>A p.L102I missense 0.00004119
70. 23858602 c.3978G>C p.K1326N missense 0.00004119
71. 23863422 c.2540C>T p.T847M missense 0.00004119
72. 23858874 c.3787G>A p.V1263M missense 0.00004119
73. 23862691 c.2965G>A p.E989K missense 0.00004118
74. 23855655 c.4828C>T p.R1610C missense 0.00004118
75. 23851743 c.5690A>G p.K1897R missense 0.00004118
76. 23862152 c.3220G>A p.D1074N missense 0.00004118
77. 23874459 c.475G>A p.D159N missense 0.00004118
78. 23858708 c.3872G>A p.R1291Q missense 0.00004118
79. 23858666 c.3914G>A p.R1305Q missense 0.00004118
80. 23862976 c.2827C>T p.R943C missense 0.00004118
81. 23858207 c.4036C>T p.R1346W missense 0.00003315
82. 23863522 c.2440C>A p.L814M missense 0.00003304
83. 23855163 c.5137G>A p.E1713K missense 0.00003304
84. 23857531 c.4192C>T p.R1398W missense 0.00003302
85. 23865556 c.2366G>A p.R789H missense 0.00003301
86. 23871675 c.1139A>C p.E380A missense 0.00003298
87. 23865538 c.2384G>A p.R795Q missense 0.00003298
88. 23874590 c.346-2A>G essential splice site 0.00003298
89. 23855756 c.4727G>A p.R1576Q missense 0.00003298
90. 23853710 c.5506G>A p.A1836T missense 0.00003297
91. 23853715 c.5501G>A p.R1834H missense 0.00003297
92. 23857516 c.4207G>A p.E1403K missense 0.00003296
93. 23871706 c.1108C>T p.R370W missense 0.00003296
94. 23866242 c.2098G>A p.V700M missense 0.00003296
95. 23854136 c.5278G>A p.A1760T missense 0.00003295
96. 23863081 c.2722G>A p.D908N missense 0.00003295
97. 23862667 c.2989G>C p.E997Q missense 0.00003295
98. 23851739 c.5694C>G p.F1898L missense 0.00003295
99. 23865937 c.2258T>C p.I753T missense 0.00003295
100. 23858102 c.4141G>A p.A1381T missense 0.00003295
101. 23858808 c.3853G>A p.E1285K missense 0.00003295
102. 23868125 c.1703G>A p.R568H missense 0.00003295
103. 23853880 c.5336C>A p.A1779D missense 0.00003295
104. 23863086 c.2717G>A p.R906H missense 0.00003295
105. 23865497 c.2425C>T p.R809C missense 0.00003295
106. 23857416 c.4307G>A p.R1436H missense 0.00003295
107. 23855654 c.4829G>A p.R1610H missense 0.00003295
108. 23863347 c.2615G>A p.R872H missense 0.00003295
109. 23857417 c.4306C>T p.R1436C missense 0.00003295
110. 23863362 c.2600A>G p.K867R missense 0.00003295
111. 23855685 c.4798C>A p.Q1600K missense 0.00003295
112. 23851738 c.5695C>T p.R1899C missense 0.00003295
113. 23859615 c.3383G>A p.R1128H missense 0.00002794
114. 23859484 c.3514G>A p.E1172K missense 0.00002561
115. 23871967 c.941T>C p.V314A missense 0.00002482
116. 23855159 c.5141G>A p.R1714Q missense 0.00002480
117. 23855770 c.4713G>T p.K1571N missense 0.00002477
118. 23870172 c.1156G>A p.A386T missense 0.00002477
119. 23871947 c.961G>A p.V321M missense 0.00002477
120. 0 c.-13-1G>A essential splice site 0.00002476
121. 23871932 c.976G>A p.D326N missense 0.00002476
122. 23865559 c.2363C>T p.T788M missense 0.00002476
123. 23852502 c.5593C>T p.R1865W missense 0.00002475
124. 23855198 c.5102G>A p.R1701Q missense 0.00002474
125. 23865524 c.2398C>T p.R800C missense 0.00002473
126. 23855310 c.4990C>T p.R1664C missense 0.00002473
127. 23866780 c.1934C>T p.S645F missense 0.00002473
128. 23873927 c.635C>T p.A212V missense 0.00002473
129. 23855298 c.5002G>A p.D1668N missense 0.00002473
130. 23871799 c.1015G>A p.V339M missense 0.00002473
131. 23855268 c.5032C>T p.R1678W missense 0.00002472
132. 23852439 c.5656G>A p.E1886K missense 0.00002472
133. 23865521 c.2401A>G p.I801V missense 0.00002472
134. 23866272 c.2068delC p.Leu690TrpfsTer38 frameshift 0.00002472
135. 23866455 c.1974C>A p.N658K missense 0.00002472
136. 23855267 c.5033G>A p.R1678Q missense 0.00002472
137. 23855690 c.4793C>T p.S1598L missense 0.00002471
138. 23856793 c.4595G>A p.R1532H missense 0.00002471
139. 23855714 c.4769G>A p.R1590H missense 0.00002471
140. 23862976 c.2827C>A p.R943S missense 0.00002471
141. 23866276 c.2064C>A p.N688K missense 0.00002471
142. 23858859 c.3802G>T p.A1268S missense 0.00002471
143. 23873561 c.679G>A p.A227T missense 0.00002471
144. 23874530 c.404A>G p.N135S missense 0.00002471
145. 23866022 c.2173C>T p.R725C missense 0.00002471
146. 23876333 c.100C>T p.R34C missense 0.00002471
147. 23851702 c.5731C>T p.R1911W missense 0.00002471
148. 23876273 c.160C>T p.R54W missense 0.00002471
149. 23871726 c.1088T>C p.M363T missense 0.00002471
150. 23867966 c.1862T>A p.L621H missense 0.00002471
151. 23861814 c.3299A>T p.Q1100L missense 0.00002471
152. 23855583 c.4900G>A p.A1634T missense 0.00002471
153. 23863387 c.2575G>A p.G859R missense 0.00002471
154. 23868126 c.1702C>T p.R568C missense 0.00002471
155. 23854154 c.5260G>A p.E1754K missense 0.00002471
156. 23862568 c.3088G>C p.E1030Q missense 0.00002471
157. 23861812 c.3301G>A p.V1101M missense 0.00002471
158. 23873528 c.712C>T p.R238W missense 0.00002471
159. 23855609 c.4874A>G p.N1625S missense 0.00002471
160. 23874453 c.481G>A p.A161T missense 0.00002471
161. 23853800 c.5416G>A p.A1806T missense 0.00002471
162. 23862727 c.2929G>C p.V977L missense 0.00002471
163. 23862583 c.3073T>A p.S1025T missense 0.00002471
164. 23869554 c.1492G>A p.E498K missense 0.00002471
165. 23851727 c.5706G>T p.Q1902H missense 0.00002471
166. 23872977 c.746T>C p.I249T missense 0.00002200
167. 23859655 c.3343G>A p.A1115T missense 0.00001810
168. 23858227 c.4016G>A p.R1339Q missense 0.00001669
169. 23857131 c.4361T>A p.I1454N missense 0.00001665
170. 23857123 c.4369G>A p.E1457K missense 0.00001663
171. 23857105 c.4387G>A p.E1463K missense 0.00001660
172. 23857101 c.4391A>C p.E1464A missense 0.00001659
173. 23857102 c.4390G>T p.E1464X nonsense 0.00001659
174. 23865593 c.2329G>A p.E777K missense 0.00001656
175. 23865590 c.2332A>T p.M778L missense 0.00001655
176. 23857541 c.4182G>C p.K1394N missense 0.00001655
177. 23857072 c.4420A>G p.K1474E missense 0.00001654
178. 23871906 c.1002T>A p.D334E missense 0.00001652
179. 23857063 c.4429C>T p.R1477C missense 0.00001652
180. 23858195 c.4048G>A p.E1350K missense 0.00001652
181. 23871908 c.1000G>A p.D334N missense 0.00001652
182. 23857062 c.4430G>A p.R1477H missense 0.00001652
183. 23855165 c.5135G>T p.S1712I missense 0.00001651
184. 23865557 c.2365C>T p.R789C missense 0.00001651
185. 23853674 c.5542C>T p.R1848C missense 0.00001650
186. 23869920 c.1408G>A p.D470N missense 0.00001649
187. 23858162 c.4081C>T p.R1361C missense 0.00001649
188. 23871807 c.1007C>A p.A336D missense 0.00001649
189. 23855204 c.5096G>A p.R1699Q missense 0.00001649
190. 23876243 c.190G>A p.E64K missense 0.00001649
191. 23869920 c.1408G>T p.D470Y missense 0.00001649
192. 23855315 c.4985C>T p.A1662V missense 0.00001649
193. 23870162 c.1166T>C p.M389T missense 0.00001649
194. 23855254 c.5046dupG p.Leu1683AlafsTer4 frameshift 0.00001649
195. 23876426 c.7G>A p.D3N missense 0.00001649
196. 23866768 c.1946T>C p.V649A missense 0.00001649
197. 23857037 c.4455G>C p.K1485N missense 0.00001649
198. 23866783 c.1931C>T p.S644L missense 0.00001649
199. 23855277 c.5023A>G p.I1675V missense 0.00001648
200. 23852435 c.5660C>T p.A1887V missense 0.00001648
201. 23857018 c.4474_4476delGAG p.Glu1492del inframe 0.00001648
202. 23858107 c.4136C>A p.T1379K missense 0.00001648
203. 23855568 c.4915G>A p.A1639T missense 0.00001648
204. 23866197 c.2143A>G p.I715V missense 0.00001648
205. 23876258 c.175G>C p.V59L missense 0.00001648
206. 23871742 c.1072A>G p.M358V missense 0.00001648
207. 23855264 c.5036G>A p.R1679H missense 0.00001648
208. 23858928 c.3733G>A p.A1245T missense 0.00001648
209. 23857398 c.4325C>T p.A1442V missense 0.00001648
210. 23853898 c.5318A>T p.K1773M missense 0.00001648
211. 23857405 c.4318G>T p.A1440S missense 0.00001648
212. 23856981 c.4511A>G p.N1504S missense 0.00001648
213. 23852442 c.5653G>A p.E1885K missense 0.00001648
214. 23866254 c.2086C>T p.R696C missense 0.00001648
215. 23858092 c.4151G>A p.R1384Q missense 0.00001648
216. 23856794 c.4594C>G p.R1532G missense 0.00001648
217. 23876348 c.85C>T p.R29W missense 0.00001648
218. 23874539 c.395_396insTAC p.Pro132_Val133insThr inframe 0.00001648
219. 23853741 c.5475G>C p.E1825D missense 0.00001648
220. 23858906 c.3755G>A p.R1252Q missense 0.00001648
221. 23869929 c.1399G>A p.E467K missense 0.00001648
222. 23857377 c.4346G>A p.R1449K missense 0.00001648
223. 23855274 c.5026G>A p.V1676M missense 0.00001648
224. 23858103 c.4140C>A p.D1380E missense 0.00001648
225. 23866185 c.2155G>A p.D719N missense 0.00001648
226. 23870151 c.1177T>G p.S393A missense 0.00001648
227. 23874852 c.329C>T p.A110V missense 0.00001648
228. 23852451 c.5644C>T p.R1882C missense 0.00001648
229. 23869955 c.1373T>C p.I458T missense 0.00001648
230. 23866221 c.2119T>C p.C707R missense 0.00001648
231. 23876365 c.68G>A p.R23H missense 0.00001648
232. 23862181 c.3191C>T p.T1064I missense 0.00001647
233. 23873506 c.734T>C p.F245S missense 0.00001647
234. 23863408 c.2554G>A p.A852T missense 0.00001647
235. 23862562 c.3094C>T p.Q1032X nonsense 0.00001647
236. 23862218 c.3154C>T p.R1052X nonsense 0.00001647
237. 23874513 c.421G>A p.A141T missense 0.00001647
238. 23862705 c.2951T>C p.M984T missense 0.00001647
239. 23866421 c.2008C>T p.H670Y missense 0.00001647
240. 23862727 c.2929G>A p.V977M missense 0.00001647
241. 23855662 c.4821_4822delAC p.Arg1608GlnfsTer18 frameshift 0.00001647
242. 23855629 c.4854G>C p.K1618N missense 0.00001647
243. 23857456 c.4267C>A p.L1423I missense 0.00001647
244. 23869511 c.1535T>C p.I512T missense 0.00001647
245. 23870079 c.1249A>G p.S417G missense 0.00001647
246. 23853866 c.5350A>G p.M1784V missense 0.00001647
247. 23863086 c.2717G>T p.R906L missense 0.00001647
248. 23874507 c.427C>G p.R143G missense 0.00001647
249. 23862961 c.2842G>A p.E948K missense 0.00001647
250. 23861839 c.3274C>G p.Q1092E missense 0.00001647
251. 23851264 c.5805G>T p.M1935I missense 0.00001647
252. 23863065 c.2738A>G p.N913S missense 0.00001647
253. 23873527 c.713G>A p.R238Q missense 0.00001647
254. 23863032 c.2771T>C p.M924T missense 0.00001647
255. 23855702 c.4781G>A p.R1594Q missense 0.00001647
256. 23874515 c.419C>A p.A140D missense 0.00001647
257. 23874449 c.485A>G p.Y162C missense 0.00001647
258. 23868189 c.1639A>G p.M547V missense 0.00001647
259. 23876314 c.119C>G p.P40R missense 0.00001647
260. 23863371 c.2591C>T p.T864M missense 0.00001647
261. 23874969 c.212T>C p.V71A missense 0.00001647
262. 23862631 c.3025C>G p.L1009V missense 0.00001647
263. 23863087 c.2716C>A p.R906S missense 0.00001647
264. 23858657 c.3923T>G p.L1308R missense 0.00001647
265. 23865922 c.2273A>G p.Y758C missense 0.00001647
266. 23873994 c.568C>T p.R190C missense 0.00001647
267. 23858825 c.3836G>A p.R1279Q missense 0.00001647
268. 23851698 c.5735C>T p.A1912V missense 0.00001647
269. 23873564 c.676C>T p.P226S missense 0.00001647
270. 23867953 c.1875C>A p.Y625X nonsense 0.00001647
271. 23862635 c.3021G>T p.Q1007H missense 0.00001647
272. 23851639 c.5794A>T p.K1932X nonsense 0.00001647
273. 23874906 c.275T>C p.M92T missense 0.00001647
274. 23870003 c.1325C>T p.T442M missense 0.00001647
275. 23867974 c.1854G>A p.M618I missense 0.00001647
276. 23872591 c.864C>G p.Y288X nonsense 0.00001647
277. 23851653 c.5780G>A p.R1927H missense 0.00001647
278. 23874948 c.233A>G p.Q78R missense 0.00001647
279. 23870070 c.1258C>T p.Q420X nonsense 0.00001647
280. 23873549 c.691T>C p.F231L missense 0.00001647
281. 23861824 c.3289G>A p.E1097K missense 0.00001647
282. 23866021 c.2174G>T p.R725L missense 0.00001647
283. 23857437 c.4286A>T p.D1429V missense 0.00001647
284. 23859467 c.3531delG p.Arg1178GlyfsTer38 frameshift 0.00001324
285. 23859466 c.3532C>T p.R1178W missense 0.00001324
286. 23858266 c.3979-2A>C essential splice site 0.00001129
287. 23859430 c.3568_3572delACTGC p.Thr1190ArgfsTer41 frameshift 0.00001106
288. 23872978 c.745A>G p.I249V missense 0.00001103
289. 23872933 c.790A>T p.I264L missense 0.00001041
290. 23872938 c.785C>T p.A262V missense 0.00001038
291. 23859610 c.3388G>T p.A1130S missense 0.00000945
292. 23858254 c.3989C>T p.A1330V missense 0.00000873
293. 23858246 c.3997C>A p.H1333N missense 0.00000848
294. 23855833 c.4651-1G>A essential splice site 0.00000845
295. 23858245 c.3998A>G p.H1333R missense 0.00000845
296. 23865632 c.2293-3_2293-2delCA essential splice site 0.00000842
297. 23855818 c.4665C>A p.H1555Q missense 0.00000840
298. 23858233 c.4010C>T p.S1337L missense 0.00000838
299. 23855814 c.4669G>A p.E1557K missense 0.00000838
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305. 23855798 c.4685G>A p.R1562Q missense 0.00000832
306. 23855799 c.4684C>T p.R1562W missense 0.00000832
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324. 23870178 c.1150A>G p.K384E missense 0.00000827
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326. 23865587 c.2335C>T p.R779W missense 0.00000827
327. 23865584 c.2338G>A p.D780N missense 0.00000826
328. 23858196 c.4047C>G p.Y1349X nonsense 0.00000826
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331. 23853656 c.5560T>C p.Y1854H missense 0.00000826
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335. 23871914 c.994G>A p.A332T missense 0.00000826
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337. 23863514 c.2448C>G p.I816M missense 0.00000826
338. 23855160 c.5140C>T p.R1714W missense 0.00000826
339. 23853653 c.5563C>T p.Q1855X nonsense 0.00000826
340. 23855201 c.5099C>A p.S1700Y missense 0.00000825
341. 23874838 c.343T>C p.Y115H missense 0.00000825
342. 23871932 c.976G>T p.D326Y missense 0.00000825
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344. 23857051 c.4441A>T p.T1481S missense 0.00000825
345. 23855189 c.5111C>T p.A1704V missense 0.00000825
346. 23873920 c.642G>T p.K214N missense 0.00000825
347. 23855762 c.4721T>A p.I1574N missense 0.00000825
348. 23874842 c.339G>A p.M113I missense 0.00000825
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351. 23858173 c.4070C>T p.A1357V missense 0.00000825
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361. 23855174 c.5126T>C p.I1709T missense 0.00000825
362. 23876332 c.101G>A p.R34H missense 0.00000824
363. 23865525 c.2397G>A p.M799I missense 0.00000824
364. 23853865 c.5351T>A p.M1784K missense 0.00000824
365. 23871800 c.1014C>A p.D338E missense 0.00000824
366. 23857378 c.4345A>G p.R1449G missense 0.00000824
367. 23866762 c.1952C>T p.A651V missense 0.00000824
368. 23866290 c.2051-1G>A essential splice site 0.00000824
369. 23856803 c.4585G>A p.E1529K missense 0.00000824
370. 23874488 c.446A>T p.E149V missense 0.00000824
371. 23868212 c.1616G>A p.C539Y missense 0.00000824
372. 23873972 c.590G>A p.S197N missense 0.00000824
373. 23868078 c.1750G>A p.A584T missense 0.00000824
374. 23851690 c.5743G>A p.A1915T missense 0.00000824
375. 23868090 c.1738C>A p.L580M missense 0.00000824
376. 23868087 c.1741A>G p.I581V missense 0.00000824
377. 23853809 c.5407G>C p.E1803Q missense 0.00000824
378. 23857405 c.4318G>C p.A1440P missense 0.00000824
379. 23866379 c.2050G>C p.G684R missense 0.00000824
380. 23854225 c.5189A>G p.K1730R missense 0.00000824
381. 23862956 c.2847C>A p.C949X nonsense 0.00000824
382. 23874919 c.262G>C p.E88Q missense 0.00000824
383. 23856988 c.4504C>T p.R1502W missense 0.00000824
384. 23876340 c.93T>G p.F31L missense 0.00000824
385. 23873510 c.730C>T p.R244C missense 0.00000824
386. 23862957 c.2846G>A p.C949Y missense 0.00000824
387. 23851644 c.5789G>A p.G1930D missense 0.00000824
388. 23868012 c.1816G>A p.V606I missense 0.00000824
389. 23874913 c.268A>G p.M90V missense 0.00000824
390. 23858890 c.3771G>T p.Q1257H missense 0.00000824
391. 23870007 c.1321G>A p.V441M missense 0.00000824
392. 23863357 c.2605G>A p.E869K missense 0.00000824
393. 23853692 c.5524A>G p.M1842V missense 0.00000824
394. 23858823 c.3838G>A p.A1280T missense 0.00000824
395. 23866452 c.1977delG p.K659Nfs*2 frameshift 0.00000824
396. 23871753 c.1061C>T p.T354M missense 0.00000824
397. 23854147 c.5267A>G p.K1756R missense 0.00000824
398. 23872576 c.879C>G p.N293K missense 0.00000824
399. 23857516 c.4207G>T p.E1403X nonsense 0.00000824
400. 23867987 c.1841C>T p.S614F missense 0.00000824
401. 23853875 c.5341C>A p.L1781M missense 0.00000824
402. 23855633 c.4850A>C p.K1617T missense 0.00000824
403. 23866004 c.2191G>T p.A731S missense 0.00000824
404. 23857417 c.4306C>A p.R1436S missense 0.00000824
405. 23867937 c.1891G>A p.G631R missense 0.00000824
406. 23863105 c.2698C>A p.L900I missense 0.00000824
407. 23858667 c.3913C>T p.R1305W missense 0.00000824
408. 23869499 c.1547T>C p.M516T missense 0.00000824
409. 23865916 c.2279T>C p.F760S missense 0.00000824
410. 23876347 c.86G>C p.R29P missense 0.00000824
411. 23868178 c.1650G>C p.K550N missense 0.00000824
412. 23876305 c.128A>G p.K43R missense 0.00000824
413. 23853824 c.5392C>T p.R1798W missense 0.00000824
414. 23861826 c.3287T>A p.I1096N missense 0.00000824
415. 23862928 c.2875C>G p.L959V missense 0.00000824
416. 23865901 c.2292+2T>C essential splice site 0.00000824
417. 23874432 c.502G>A p.D168N missense 0.00000824
418. 23858613 c.3967delG p.Glu1323ArgfsTer105 frameshift 0.00000824
419. 23851665 c.5768G>A p.R1923Q missense 0.00000824
420. 23868044 c.1784T>A p.L595Q missense 0.00000824
421. 23855691 c.4792T>C p.S1598P missense 0.00000824
422. 23863474 c.2488C>T p.P830S missense 0.00000824
423. 23874957 c.224A>G p.Q75R missense 0.00000824
424. 23853762 c.5454A>T p.E1818D missense 0.00000824
425. 23870122 c.1206C>A p.H402Q missense 0.00000824
426. 23869956 c.1372A>G p.I458V missense 0.00000824
427. 23856853 c.4535C>T p.S1512L missense 0.00000824
428. 23866223 c.2117T>A p.I706N missense 0.00000824
429. 23854222 c.5192A>T p.K1731M missense 0.00000824
430. 23862588 c.3068C>T p.S1023F missense 0.00000824
431. 23862137 c.3235G>C p.E1079Q missense 0.00000824
432. 23867997 c.1831C>T p.Q611X nonsense 0.00000824
433. 23862143 c.3229C>T p.Q1077X nonsense 0.00000824
434. 23862235 c.3137T>C p.V1046A missense 0.00000824
435. 23867962 c.1866C>A p.F622L missense 0.00000824
436. 23863341 c.2621A>T p.E874V missense 0.00000824
437. 23858803 c.3858T>G p.N1286K missense 0.00000824
438. 23856761 c.4627C>A p.Q1543K missense 0.00000824
439. 23876398 c.35C>T p.A12V missense 0.00000824
440. 23869468 c.1578G>C p.E526D missense 0.00000824
441. 23873522 c.718G>A p.D240N missense 0.00000824
442. 23854157 c.5257G>C p.A1753P missense 0.00000824
443. 23855286 c.5014A>T p.N1672Y missense 0.00000824
444. 23866396 c.2033A>G p.N678S missense 0.00000824
445. 23873979 c.583T>C p.F195L missense 0.00000824
446. 23869464 c.1581+1G>A essential splice site 0.00000824
447. 23868101 c.1727C>T p.A576V missense 0.00000824
448. 23855740 c.4743G>T p.K1581N missense 0.00000824
449. 23865524 c.2398C>A p.R800S missense 0.00000824
450. 23853812 c.5404G>A p.A1802T missense 0.00000824
451. 23871685 c.1129G>C p.D377H missense 0.00000824
452. 23874928 c.253G>A p.D85N missense 0.00000824
453. 23853735 c.5481G>C p.E1827D missense 0.00000824
454. 23858895 c.3766G>A p.D1256N missense 0.00000824
455. 23870027 c.1301A>C p.E434A missense 0.00000824
456. 23855715 c.4768C>A p.R1590S missense 0.00000824
457. 23857027 c.4465G>A p.A1489T missense 0.00000824
458. 23858097 c.4146_4148delTCA p.Ile1382_Gln1383delinsMet inframe 0.00000824
459. 23862672 c.2984C>G p.T995S missense 0.00000824
460. 23873546 c.694G>A p.G232S missense 0.00000824
461. 23851645 c.5788G>C p.G1930R missense 0.00000824
462. 23858140 c.4103C>T p.S1368L missense 0.00000824
463. 23868023 c.1805T>C p.L602P missense 0.00000824
464. 23855660 c.4823G>A p.R1608H missense 0.00000824
465. 23867988 c.1840T>G p.S614A missense 0.00000824
466. 23855576 c.4907G>A p.R1636H missense 0.00000824
467. 23863373 c.2589G>C p.E863D missense 0.00000824
468. 23853694 c.5522G>A p.G1841D missense 0.00000824
469. 23858847 c.3814C>T p.L1272F missense 0.00000824
470. 23866199 c.2141G>A p.R714H missense 0.00000824
471. 23854123 c.5289+2T>C essential splice site 0.00000824
472. 23854154 c.5260G>C p.E1754Q missense 0.00000824
473. 23862565 c.3091C>A p.Q1031K missense 0.00000824
474. 23872617 c.838G>T p.A280S missense 0.00000824
475. 23865927 c.2268C>A p.N756K missense 0.00000824
476. 23868032 c.1796A>T p.K599M missense 0.00000824
477. 23862221 c.3151G>A p.E1051K missense 0.00000824
478. 23866390 c.2039G>A p.R680Q missense 0.00000824
479. 23867952 c.1876G>A p.A626T missense 0.00000824
480. 23863299 c.2663A>G p.D888G missense 0.00000824
481. 23876383 c.50G>A p.R17H missense 0.00000824
482. 23852489 c.5606T>C p.L1869P missense 0.00000824
483. 23858678 c.3902C>T p.S1301L missense 0.00000824
484. 23869524 c.1522G>C p.E508Q missense 0.00000824
485. 23862997 c.2806G>A p.A936T missense 0.00000824
486. 23851768 c.5665G>A p.E1889K missense 0.00000824
487. 23853827 c.5389C>G p.H1797D missense 0.00000824
488. 23862152 c.3220G>T p.D1074Y missense 0.00000824
489. 23871768 c.1046G>A p.G349D missense 0.00000824
490. 23857371 c.4352T>C p.F1451S missense 0.00000824
491. 23866753 c.1961G>A p.R654Q missense 0.00000824
492. 23865902 c.2292+1G>A essential splice site 0.00000824
493. 23853788 c.5428G>A p.G1810S missense 0.00000824
494. 23857429 c.4294G>A p.V1432M missense 0.00000824
495. 23866277 c.2063A>G p.N688S missense 0.00000824
496. 23858654 c.3926_3927delCT p.Ser1309LeufsTer32 frameshift 0.00000824
497. 23862909 c.2894A>C p.K965T missense 0.00000824
498. 23851666 c.5767C>T p.R1923X nonsense 0.00000824
499. 23868045 c.1783C>G p.L595V missense 0.00000824
500. 23866019 c.2176A>T p.I726F missense 0.00000824
501. 23855715 c.4768C>T p.R1590C missense 0.00000824
502. 23856967 c.4525G>T p.E1509X nonsense 0.00000824
503. 23858103 c.4140C>G p.D1380E missense 0.00000824
504. 23868003 c.1825C>A p.L609M missense 0.00000824
505. 23855647 c.4836G>C p.E1612D missense 0.00000824
506. 23863392 c.2570A>G p.E857G missense 0.00000824
507. 23874889 c.292G>C p.E98Q missense 0.00000824
508. 23858859 c.3802G>A p.A1268T missense 0.00000824
509. 23869962 c.1366T>G p.Y456D missense 0.00000824
510. 23854158 c.5256C>G p.N1752K missense 0.00000824
511. 23856974 c.4518C>A p.N1506K missense 0.00000824
512. 23866224 c.2116A>T p.I706F missense 0.00000824
513. 23854222 c.5192A>C p.K1731T missense 0.00000824
514. 23858800 c.3859+2T>G essential splice site 0.00000824
515. 23856764 c.4624C>A p.L1542M missense 0.00000824
516. 23866178 c.2162G>A p.R721Q missense 0.00000824
517. 23851266 c.5803dupA p.Met1935AsnfsTer4 frameshift 0.00000824
518. 23870143 c.1185C>G p.D395E missense 0.00000824
519. 23853919 c.5297T>C p.M1766T missense 0.00000824
520. 23862248 c.3124C>A p.Q1042K missense 0.00000824
521. 23872568 c.887C>T p.P296L missense 0.00000824
522. 23870021 c.1307T>C p.M436T missense 0.00000824
523. 23857468 c.4255A>C p.T1419P missense 0.00000824
524. 23855534 c.4949G>A p.S1650N missense 0.00000824
525. 23863342 c.2620G>T p.E874X nonsense 0.00000824
526. 23874551 c.383A>G p.Y128C missense 0.00000824
527. 23869526 c.1520T>C p.I507T missense 0.00000824
528. 23858803 c.3858T>A p.N1286K missense 0.00000824
529. 23869560 c.1486G>C p.V496L missense 0.00000824
530. 23874507 c.427C>T p.R143W missense 0.00000824
531. 23852450 c.5645G>T p.R1882L missense 0.00000824
532. 23869481 c.1565T>C p.I522T missense 0.00000824
533. 23876339 c.94G>C p.D32H missense 0.00000824
534. 23862209 c.3163C>T p.R1055W missense 0.00000824
535. 23855261 c.5039A>T p.N1680I missense 0.00000824
536. 23857410 c.4313A>T p.N1438I missense 0.00000824
537. 23871689 c.1125G>T p.E375D missense 0.00000824
538. 23862176 c.3196G>A p.E1066K missense 0.00000824
539. 23866402 c.2027T>A p.I676N missense 0.00000824
540. 23862874 c.2928+1G>A essential splice site 0.00000824
541. 23851726 c.5707C>A p.H1903N missense 0.00000824
542. 23868166 c.1662C>A p.Y554X nonsense 0.00000824
543. 23869546 c.1500G>C p.E500D missense 0.00000824
544. 23876258 c.175G>A p.V59I missense 0.00000824
545. 23853815 c.5401G>A p.E1801K missense 0.00000824
546. 23868029 c.1799A>T p.D600V missense 0.00000824
547. 23855661 c.4822C>G p.R1608G missense 0.00000824
548. 23863434 c.2528A>G p.K843R missense 0.00000824
549. 23874937 c.244C>T p.P82S missense 0.00000824
550. 23856773 c.4615A>C p.K1539Q missense 0.00000824
551. 23870033 c.1295T>C p.V432A missense 0.00000824
552. 23856833 c.4555G>T p.Gly1519Ter nonsense 0.00000824
553. 23866271 c.2069T>A p.L690Q missense 0.00000824
554. 23862682 c.2974G>A p.A992T missense 0.00000824
555. 23851653 c.5780G>T p.R1927L missense 0.00000824
556. 23858150 c.4093A>G p.K1365E missense 0.00000824
557. 23873509 c.731G>A p.R244H missense 0.00000824
558. 23872640 c.815C>T p.S272F missense 0.00000824
559. 23858086 c.4157A>T p.E1386V missense 0.00000824
560. 23867996 c.1832A>T p.Q611L missense 0.00000824
561. 23863377 c.2585A>G p.K862R missense 0.00000824
562. 23874853 c.328G>A p.A110T missense 0.00000824
563. 23853695 c.5521G>A p.G1841S missense 0.00000824
564. 23858852 c.3809G>A p.R1270H missense 0.00000824
565. 23862676 c.2980C>A p.L994M missense 0.00000824
566. 23856799 c.4589A>T p.K1530M missense 0.00000824
567. 23866200 c.2140C>T p.R714C missense 0.00000824
568. 23874521 c.413T>C p.V138A missense 0.00000824
569. 23869531 c.1515G>C p.E505D missense 0.00000824
570. 23865973 c.2222G>A p.R741K missense 0.00000824
571. 23876360 c.73G>A p.E25K missense 0.00000824
572. 23853881 c.5335G>T p.A1779S missense 0.00000824
573. 23862232 c.3140G>A p.R1047H missense 0.00000824
574. 23857428 c.4295T>A p.V1432E missense 0.00000824
575. 23863304 c.2658G>C p.K886N missense 0.00000824
576. 23853752 c.5464C>G p.R1822G missense 0.00000824
577. 23866754 c.1960C>T p.R654W missense 0.00000824
578. 23863075 c.2728C>A p.L910M missense 0.00000824
579. 23851770 c.5663A>C p.E1888A missense 0.00000824
580. 23868190 c.1638C>A p.D546E missense 0.00000824
581. 23876314 c.119C>T p.P40L missense 0.00000824
582. 23853841 c.5375T>C p.I1792T missense 0.00000824
583. 23862169 c.3203T>C p.I1068T missense 0.00000824
584. 23866765 c.1949C>T p.S650L missense 0.00000824
585. 23855720 c.4763C>A p.A1588D missense 0.00000824
586. 23865521 c.2401A>T p.I801F missense 0.00000824
587. 23874970 c.211G>A p.V71M missense 0.00000824
588. 23866287 c.2053G>A p.V685M missense 0.00000824
589. 23858722 c.3860-2A>C essential splice site 0.00000824
590. 23854154 c.5260G>T p.E1754X nonsense 0.00000824
591. 23862940 c.2863G>C p.D955H missense 0.00000824
592. 23873952 c.610C>T p.R204C missense 0.00000824
593. 23851680 c.5753A>T p.Q1918L missense 0.00000824
594. 23868065 c.1763A>G p.D588G missense 0.00000824
595. 23854231 c.5183A>G p.Q1728R missense 0.00000824
596. 23868011 c.1817T>C p.V606A missense 0.00000824
597. 23863395 c.2567A>G p.E856G missense 0.00000824
598. 23853725 c.5491G>T p.E1831X nonsense 0.00000824
599. 23858874 c.3787G>T p.V1263L missense 0.00000824
600. 23855612 c.4871T>C p.L1624P missense 0.00000824
601. 23856974 c.4518C>G p.N1506K missense 0.00000824
602. 23856995 c.4497dupC p.Phe1500LeufsTer17 frameshift 0.00000824
603. 23876312 c.121G>A p.D41N missense 0.00000824
604. 23858804 c.3857A>T p.N1286I missense 0.00000824
605. 23869919 c.1409A>G p.D470G missense 0.00000824
606. 23858667 c.3913delC p.R1305Gfs*123 frameshift 0.00000824
607. 23856767 c.4621G>C p.E1541Q missense 0.00000824
608. 23851274 c.5797-2A>G essential splice site 0.00000824
609. 23862551 c.3105T>G p.D1035E missense 0.00000824
610. 23872573 c.882G>C p.K294N missense 0.00000824
611. 23857431 c.4292T>C p.M1431T missense 0.00000824
612. 23855565 c.4918G>A p.E1640K missense 0.00000824
613. 23874576 c.358C>G p.L120V missense 0.00000824
614. 23876313 c.120delC p.Asp41MetfsTer29 frameshift 0.00000824
615. 23855309 c.4991G>A p.R1664H missense 0.00000824
616. 23863093 c.2710G>T p.E904X nonsense 0.00000824
617. 23874510 c.424T>C p.Y142H missense 0.00000824
618. 23869484 c.1562G>A p.C521Y missense 0.00000824
619. 23874494 c.440G>A p.R147K missense 0.00000824
620. 23865904 c.2291A>C p.K764T missense 0.00000824
621. 23876344 c.89C>G p.P30R missense 0.00000824
622. 23853872 c.5344G>C p.E1782Q missense 0.00000824
623. 23862217 c.3155G>A p.R1052Q missense 0.00000824
624. 23865982 c.2213T>C p.I738T missense 0.00000824
625. 23855757 c.4726C>T p.R1576W missense 0.00000824
626. 23853823 c.5393G>A p.R1798Q missense 0.00000824
627. 23861826 c.3287T>C p.I1096T missense 0.00000824
628. 23862245 c.3127G>C p.E1043Q missense 0.00000824
629. 23866417 c.2012T>G p.F671C missense 0.00000824
630. 23855637 c.4846G>A p.V1616M missense 0.00000824
631. 23855229 c.5071C>T p.R1691C missense 0.00000824
632. 23874018 c.544G>A p.A182T missense 0.00000824
633. 23870052 c.1276G>A p.G426R missense 0.00000824
634. 23868176 c.1652C>T p.A551V missense 0.00000824
635. 23862711 c.2945A>G p.E982G missense 0.00000824
636. 23873585 c.655G>T p.D219Y missense 0.00000824
637. 23868039 c.1789A>G p.K597E missense 0.00000824
638. 23863409 c.2553G>A p.M851I missense 0.00000824
639. 23863459 c.2503T>C p.Y835H missense 0.00000824
640. 23856786 c.4602G>C p.Q1534H missense 0.00000824
641. 23853742 c.5474A>T p.E1825V missense 0.00000824
642. 23858912 c.3749T>A p.V1250E missense 0.00000824
643. 23866275 c.2065C>A p.P689T missense 0.00000824
644. 23858600 c.3978+2T>C essential splice site 0.00000824
645. 23856832 c.4556G>A p.G1519E missense 0.00000824
646. 23855627 c.4856_4858delAGA p.Lys1619del inframe 0.00000824
647. 23854211 c.5203G>A p.D1735N missense 0.00000824
648. 23862579 c.3077A>C p.K1026T missense 0.00000824
649. 23873937 c.625A>G p.N209D missense 0.00000824
650. 23858093 c.4150C>T p.R1384W missense 0.00000824
651. 23867997 c.1831C>A p.Q611K missense 0.00000824
652. 23855629 c.4854G>T p.K1618N missense 0.00000824
653. 23863386 c.2576G>C p.G859A missense 0.00000824
654. 23853701 c.5515G>T p.V1839L missense 0.00000824
655. 23858858 c.3803C>G p.A1268G missense 0.00000824
656. 23863333 c.2629G>A p.E877K missense 0.00000824
657. 23858720 c.3860G>A p.G1287E missense 0.00000824
658. 23869539 c.1507A>G p.K503E missense 0.00000824
659. 23853895 c.5321A>G p.E1774G missense 0.00000824
660. 23862233 c.3139C>T p.R1047C 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.