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. 23851741 c.5692T>C p.F1898L missense 0.00009060
7. 23862173 c.3199A>G p.S1067G 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. 23862194 c.3178G>A p.D1060N missense 0.00008237
16. 23863387 c.2575G>T p.G859W missense 0.00008237
17. 23870000 c.1328G>A p.R443H missense 0.00008237
18. 23858217 c.4026C>A p.C1342X nonsense 0.00007474
19. 23871807 c.1007C>G p.A336G missense 0.00007421
20. 23865539 c.2383C>T p.R795W missense 0.00007421
21. 23874525 c.409G>A p.E137K missense 0.00007414
22. 23858877 c.3784C>T p.R1262C 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. 23870067 c.1261G>A p.V421M missense 0.00006589
33. 23870084 c.1244G>C p.G415A 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. 23876356 c.77C>G p.A26G missense 0.00005767
40. 23855736 c.4747G>A p.E1583K missense 0.00005767
41. 23857423 c.4300G>A p.V1434I missense 0.00005766
42. 23865989 c.2206C>A p.Q736K 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. 23858903 c.3758C>T p.T1253M missense 0.00004943
52. 23857507 c.4216G>A p.V1406M missense 0.00004943
53. 23857492 c.4231G>A p.A1411T missense 0.00004943
54. 23874868 c.313C>A p.L105I missense 0.00004943
55. 23871766 c.1048G>A p.V350I missense 0.00004943
56. 23869981 c.1347G>T p.E449D missense 0.00004942
57. 23868200 c.1628A>G p.K543R missense 0.00004942
58. 23863087 c.2716C>T p.R906C 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. 23858602 c.3978G>C p.K1326N missense 0.00004119
69. 23874978 c.203C>T p.T68M missense 0.00004119
70. 23874877 c.304C>A p.L102I missense 0.00004119
71. 23858874 c.3787G>A p.V1263M missense 0.00004119
72. 23863422 c.2540C>T p.T847M missense 0.00004119
73. 23862976 c.2827C>T p.R943C missense 0.00004118
74. 23862691 c.2965G>A p.E989K missense 0.00004118
75. 23858666 c.3914G>A p.R1305Q missense 0.00004118
76. 23851743 c.5690A>G p.K1897R missense 0.00004118
77. 23862152 c.3220G>A p.D1074N missense 0.00004118
78. 23855655 c.4828C>T p.R1610C missense 0.00004118
79. 23874459 c.475G>A p.D159N missense 0.00004118
80. 23858708 c.3872G>A p.R1291Q 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. 23865538 c.2384G>A p.R795Q missense 0.00003298
87. 23871675 c.1139A>C p.E380A missense 0.00003298
88. 23855756 c.4727G>A p.R1576Q missense 0.00003298
89. 23874590 c.346-2A>G essential splice site 0.00003298
90. 23853710 c.5506G>A p.A1836T missense 0.00003297
91. 23853715 c.5501G>A p.R1834H missense 0.00003297
92. 23871706 c.1108C>T p.R370W missense 0.00003296
93. 23857516 c.4207G>A p.E1403K missense 0.00003296
94. 23866242 c.2098G>A p.V700M missense 0.00003296
95. 23854136 c.5278G>A p.A1760T missense 0.00003295
96. 23858102 c.4141G>A p.A1381T missense 0.00003295
97. 23862667 c.2989G>C p.E997Q missense 0.00003295
98. 23865497 c.2425C>T p.R809C missense 0.00003295
99. 23858808 c.3853G>A p.E1285K missense 0.00003295
100. 23863347 c.2615G>A p.R872H missense 0.00003295
101. 23863081 c.2722G>A p.D908N missense 0.00003295
102. 23865937 c.2258T>C p.I753T missense 0.00003295
103. 23863362 c.2600A>G p.K867R missense 0.00003295
104. 23863086 c.2717G>A p.R906H missense 0.00003295
105. 23857417 c.4306C>T p.R1436C missense 0.00003295
106. 23853880 c.5336C>A p.A1779D missense 0.00003295
107. 23855654 c.4829G>A p.R1610H missense 0.00003295
108. 23851738 c.5695C>T p.R1899C missense 0.00003295
109. 23868125 c.1703G>A p.R568H missense 0.00003295
110. 23857416 c.4307G>A p.R1436H missense 0.00003295
111. 23855685 c.4798C>A p.Q1600K missense 0.00003295
112. 23851739 c.5694C>G p.F1898L 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. 23871947 c.961G>A p.V321M missense 0.00002477
119. 23870172 c.1156G>A p.A386T missense 0.00002477
120. 23871932 c.976G>A p.D326N missense 0.00002476
121. 0 c.-13-1G>A essential splice site 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. 23871799 c.1015G>A p.V339M missense 0.00002473
126. 23855298 c.5002G>A p.D1668N missense 0.00002473
127. 23873927 c.635C>T p.A212V missense 0.00002473
128. 23855310 c.4990C>T p.R1664C missense 0.00002473
129. 23865524 c.2398C>T p.R800C missense 0.00002473
130. 23866780 c.1934C>T p.S645F missense 0.00002473
131. 23866455 c.1974C>A p.N658K missense 0.00002472
132. 23865521 c.2401A>G p.I801V missense 0.00002472
133. 23852439 c.5656G>A p.E1886K missense 0.00002472
134. 23866272 c.2068delC p.Leu690TrpfsTer38 frameshift 0.00002472
135. 23855268 c.5032C>T p.R1678W missense 0.00002472
136. 23855267 c.5033G>A p.R1678Q missense 0.00002472
137. 23861812 c.3301G>A p.V1101M missense 0.00002471
138. 23867966 c.1862T>A p.L621H missense 0.00002471
139. 23869554 c.1492G>A p.E498K missense 0.00002471
140. 23862727 c.2929G>C p.V977L missense 0.00002471
141. 23861814 c.3299A>T p.Q1100L missense 0.00002471
142. 23855583 c.4900G>A p.A1634T missense 0.00002471
143. 23866022 c.2173C>T p.R725C missense 0.00002471
144. 23856793 c.4595G>A p.R1532H missense 0.00002471
145. 23851727 c.5706G>T p.Q1902H missense 0.00002471
146. 23866276 c.2064C>A p.N688K missense 0.00002471
147. 23862976 c.2827C>A p.R943S missense 0.00002471
148. 23855609 c.4874A>G p.N1625S missense 0.00002471
149. 23874530 c.404A>G p.N135S missense 0.00002471
150. 23868126 c.1702C>T p.R568C missense 0.00002471
151. 23853800 c.5416G>A p.A1806T missense 0.00002471
152. 23862568 c.3088G>C p.E1030Q missense 0.00002471
153. 23855690 c.4793C>T p.S1598L missense 0.00002471
154. 23851702 c.5731C>T p.R1911W missense 0.00002471
155. 23873561 c.679G>A p.A227T missense 0.00002471
156. 23858859 c.3802G>T p.A1268S missense 0.00002471
157. 23873528 c.712C>T p.R238W missense 0.00002471
158. 23863387 c.2575G>A p.G859R missense 0.00002471
159. 23855714 c.4769G>A p.R1590H missense 0.00002471
160. 23874453 c.481G>A p.A161T missense 0.00002471
161. 23854154 c.5260G>A p.E1754K missense 0.00002471
162. 23876273 c.160C>T p.R54W missense 0.00002471
163. 23862583 c.3073T>A p.S1025T missense 0.00002471
164. 23871726 c.1088T>C p.M363T missense 0.00002471
165. 23876333 c.100C>T p.R34C 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. 23857062 c.4430G>A p.R1477H missense 0.00001652
179. 23871906 c.1002T>A p.D334E missense 0.00001652
180. 23857063 c.4429C>T p.R1477C missense 0.00001652
181. 23858195 c.4048G>A p.E1350K missense 0.00001652
182. 23871908 c.1000G>A p.D334N 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. 23876426 c.7G>A p.D3N missense 0.00001649
187. 23858162 c.4081C>T p.R1361C missense 0.00001649
188. 23869920 c.1408G>A p.D470N missense 0.00001649
189. 23855254 c.5046dupG p.Leu1683AlafsTer4 frameshift 0.00001649
190. 23869920 c.1408G>T p.D470Y missense 0.00001649
191. 23857037 c.4455G>C p.K1485N missense 0.00001649
192. 23866768 c.1946T>C p.V649A missense 0.00001649
193. 23855204 c.5096G>A p.R1699Q missense 0.00001649
194. 23876243 c.190G>A p.E64K missense 0.00001649
195. 23871807 c.1007C>A p.A336D missense 0.00001649
196. 23870162 c.1166T>C p.M389T missense 0.00001649
197. 23855315 c.4985C>T p.A1662V missense 0.00001649
198. 23866783 c.1931C>T p.S644L missense 0.00001649
199. 23856981 c.4511A>G p.N1504S missense 0.00001648
200. 23858107 c.4136C>A p.T1379K missense 0.00001648
201. 23857018 c.4474_4476delGAG p.Glu1492del inframe 0.00001648
202. 23858906 c.3755G>A p.R1252Q missense 0.00001648
203. 23876348 c.85C>T p.R29W missense 0.00001648
204. 23866197 c.2143A>G p.I715V missense 0.00001648
205. 23870151 c.1177T>G p.S393A missense 0.00001648
206. 23855274 c.5026G>A p.V1676M missense 0.00001648
207. 23869955 c.1373T>C p.I458T missense 0.00001648
208. 23852451 c.5644C>T p.R1882C missense 0.00001648
209. 23852435 c.5660C>T p.A1887V missense 0.00001648
210. 23853898 c.5318A>T p.K1773M missense 0.00001648
211. 23857377 c.4346G>A p.R1449K missense 0.00001648
212. 23853741 c.5475G>C p.E1825D missense 0.00001648
213. 23857398 c.4325C>T p.A1442V missense 0.00001648
214. 23876258 c.175G>C p.V59L missense 0.00001648
215. 23866254 c.2086C>T p.R696C missense 0.00001648
216. 23874852 c.329C>T p.A110V missense 0.00001648
217. 23855277 c.5023A>G p.I1675V missense 0.00001648
218. 23858092 c.4151G>A p.R1384Q missense 0.00001648
219. 23856794 c.4594C>G p.R1532G missense 0.00001648
220. 23855264 c.5036G>A p.R1679H missense 0.00001648
221. 23871742 c.1072A>G p.M358V missense 0.00001648
222. 23876365 c.68G>A p.R23H missense 0.00001648
223. 23874539 c.395_396insTAC p.Pro132_Val133insThr inframe 0.00001648
224. 23869929 c.1399G>A p.E467K missense 0.00001648
225. 23858103 c.4140C>A p.D1380E missense 0.00001648
226. 23852442 c.5653G>A p.E1885K missense 0.00001648
227. 23858928 c.3733G>A p.A1245T missense 0.00001648
228. 23866185 c.2155G>A p.D719N missense 0.00001648
229. 23855568 c.4915G>A p.A1639T missense 0.00001648
230. 23866221 c.2119T>C p.C707R missense 0.00001648
231. 23857405 c.4318G>T p.A1440S missense 0.00001648
232. 23861839 c.3274C>G p.Q1092E missense 0.00001647
233. 23862562 c.3094C>T p.Q1032X nonsense 0.00001647
234. 23855662 c.4821_4822delAC p.Arg1608GlnfsTer18 frameshift 0.00001647
235. 23870003 c.1325C>T p.T442M missense 0.00001647
236. 23857456 c.4267C>A p.L1423I missense 0.00001647
237. 23851698 c.5735C>T p.A1912V missense 0.00001647
238. 23851653 c.5780G>A p.R1927H missense 0.00001647
239. 23874906 c.275T>C p.M92T missense 0.00001647
240. 23870070 c.1258C>T p.Q420X nonsense 0.00001647
241. 23867953 c.1875C>A p.Y625X nonsense 0.00001647
242. 23853866 c.5350A>G p.M1784V missense 0.00001647
243. 23873506 c.734T>C p.F245S missense 0.00001647
244. 23862727 c.2929G>A p.V977M missense 0.00001647
245. 23874948 c.233A>G p.Q78R missense 0.00001647
246. 23862705 c.2951T>C p.M984T missense 0.00001647
247. 23861824 c.3289G>A p.E1097K missense 0.00001647
248. 23874507 c.427C>G p.R143G missense 0.00001647
249. 23874513 c.421G>A p.A141T missense 0.00001647
250. 23868189 c.1639A>G p.M547V missense 0.00001647
251. 23873527 c.713G>A p.R238Q missense 0.00001647
252. 23873549 c.691T>C p.F231L missense 0.00001647
253. 23865922 c.2273A>G p.Y758C missense 0.00001647
254. 23867974 c.1854G>A p.M618I missense 0.00001647
255. 23874449 c.485A>G p.Y162C missense 0.00001647
256. 23866421 c.2008C>T p.H670Y missense 0.00001647
257. 23873564 c.676C>T p.P226S missense 0.00001647
258. 23863086 c.2717G>T p.R906L missense 0.00001647
259. 23862961 c.2842G>A p.E948K missense 0.00001647
260. 23870079 c.1249A>G p.S417G missense 0.00001647
261. 23863371 c.2591C>T p.T864M missense 0.00001647
262. 23862631 c.3025C>G p.L1009V missense 0.00001647
263. 23874515 c.419C>A p.A140D missense 0.00001647
264. 23855702 c.4781G>A p.R1594Q missense 0.00001647
265. 23863408 c.2554G>A p.A852T missense 0.00001647
266. 23869511 c.1535T>C p.I512T missense 0.00001647
267. 23872591 c.864C>G p.Y288X nonsense 0.00001647
268. 23873994 c.568C>T p.R190C missense 0.00001647
269. 23857437 c.4286A>T p.D1429V missense 0.00001647
270. 23863065 c.2738A>G p.N913S missense 0.00001647
271. 23858657 c.3923T>G p.L1308R missense 0.00001647
272. 23858825 c.3836G>A p.R1279Q missense 0.00001647
273. 23862181 c.3191C>T p.T1064I missense 0.00001647
274. 23851264 c.5805G>T p.M1935I missense 0.00001647
275. 23862635 c.3021G>T p.Q1007H missense 0.00001647
276. 23862218 c.3154C>T p.R1052X nonsense 0.00001647
277. 23863032 c.2771T>C p.M924T missense 0.00001647
278. 23876314 c.119C>G p.P40R missense 0.00001647
279. 23863087 c.2716C>A p.R906S missense 0.00001647
280. 23855629 c.4854G>C p.K1618N missense 0.00001647
281. 23851639 c.5794A>T p.K1932X nonsense 0.00001647
282. 23874969 c.212T>C p.V71A missense 0.00001647
283. 23866021 c.2174G>T p.R725L missense 0.00001647
284. 23859466 c.3532C>T p.R1178W missense 0.00001324
285. 23859467 c.3531delG p.Arg1178GlyfsTer38 frameshift 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
300. 23855811 c.4672G>A p.G1558S missense 0.00000837
301. 23871997 c.911T>C p.V304A missense 0.00000835
302. 23855807 c.4676A>G p.K1559R missense 0.00000834
303. 23858222 c.4021G>T p.D1341Y missense 0.00000833
304. 23855802 c.4681C>T p.L1561F missense 0.00000833
305. 23855798 c.4685G>A p.R1562Q missense 0.00000832
306. 23855798 c.4685G>T p.R1562L missense 0.00000832
307. 23855799 c.4684C>T p.R1562W missense 0.00000832
308. 23855796 c.4687G>A p.A1563T missense 0.00000831
309. 23871980 c.928G>A p.D310N missense 0.00000830
310. 23859357 c.3641G>A p.R1214Q missense 0.00000829
311. 23857098 c.4394C>T p.S1465L missense 0.00000829
312. 23871974 c.934G>A p.A312T missense 0.00000829
313. 23857095 c.4397A>G p.Q1466R missense 0.00000829
314. 23855785 c.4698G>C p.E1566D missense 0.00000829
315. 23857096 c.4396C>G p.Q1466E missense 0.00000829
316. 23871971 c.937T>G p.F313V missense 0.00000828
317. 23869635 c.1411T>C p.F471L missense 0.00000828
318. 23855144 c.5156A>G p.H1719R missense 0.00000828
319. 23855783 c.4700T>G p.F1567C missense 0.00000828
320. 23852509 c.5586C>G p.N1862K missense 0.00000828
321. 23870178 c.1150A>G p.K384E missense 0.00000827
322. 23857068 c.4424A>G p.E1475G missense 0.00000827
323. 23858198 c.4045T>A p.Y1349N missense 0.00000827
324. 23855153 c.5147A>G p.Q1716R missense 0.00000827
325. 23865587 c.2335C>T p.R779W missense 0.00000827
326. 23858198 c.4045T>G p.Y1349D missense 0.00000827
327. 23858196 c.4047C>G p.Y1349X nonsense 0.00000826
328. 23871914 c.994G>A p.A332T missense 0.00000826
329. 23871905 c.1002+1G>A essential splice site 0.00000826
330. 23853653 c.5563C>T p.Q1855X nonsense 0.00000826
331. 23865568 c.2354G>A p.R785H missense 0.00000826
332. 23853656 c.5560T>C p.Y1854H missense 0.00000826
333. 23855160 c.5140C>T p.R1714W missense 0.00000826
334. 23855340 c.4960G>A p.D1654N missense 0.00000826
335. 23865584 c.2338G>A p.D780N missense 0.00000826
336. 23863514 c.2448C>G p.I816M missense 0.00000826
337. 23853649 c.5565+2T>A essential splice site 0.00000826
338. 23857065 c.4427C>T p.A1476V missense 0.00000826
339. 23871943 c.965C>G p.A322G missense 0.00000826
340. 23865559 c.2363C>G p.T788R missense 0.00000825
341. 23866793 c.1921A>C p.K641Q missense 0.00000825
342. 23873920 c.642G>T p.K214N missense 0.00000825
343. 23865565 c.2357T>A p.I786N missense 0.00000825
344. 23855174 c.5126T>C p.I1709T missense 0.00000825
345. 23874842 c.339G>T p.M113I missense 0.00000825
346. 23857046 c.4446G>C p.E1482D missense 0.00000825
347. 23855319 c.4981G>A p.D1661N missense 0.00000825
348. 23865551 c.2371C>G p.Q791E missense 0.00000825
349. 23874838 c.343T>C p.Y115H missense 0.00000825
350. 23865565 c.2357T>G p.I786S missense 0.00000825
351. 23866806 c.1908C>A p.S636R missense 0.00000825
352. 23855762 c.4721T>A p.I1574N missense 0.00000825
353. 23855189 c.5111C>T p.A1704V missense 0.00000825
354. 23858173 c.4070C>T p.A1357V missense 0.00000825
355. 23855201 c.5099C>A p.S1700Y missense 0.00000825
356. 23853682 c.5534G>T p.S1845I missense 0.00000825
357. 23874842 c.339G>A p.M113I missense 0.00000825
358. 0 c.-13-1G>C essential splice site 0.00000825
359. 23871932 c.976G>T p.D326Y missense 0.00000825
360. 23857051 c.4441A>T p.T1481S missense 0.00000825
361. 23857045 c.4447C>T p.L1483F missense 0.00000825
362. 23874853 c.328G>A p.A110T missense 0.00000824
363. 23856767 c.4621G>C p.E1541Q missense 0.00000824
364. 23853694 c.5522G>A p.G1841D missense 0.00000824
365. 23862928 c.2875C>G p.L959V missense 0.00000824
366. 23874576 c.358C>G p.L120V missense 0.00000824
367. 23871689 c.1125G>T p.E375D missense 0.00000824
368. 23867988 c.1840T>G p.S614A missense 0.00000824
369. 23865524 c.2398C>A p.R800S missense 0.00000824
370. 23856799 c.4589A>T p.K1530M missense 0.00000824
371. 23857431 c.4292T>C p.M1431T missense 0.00000824
372. 23874488 c.446A>T p.E149V missense 0.00000824
373. 23851770 c.5663A>C p.E1888A missense 0.00000824
374. 23854158 c.5256C>G p.N1752K missense 0.00000824
375. 23866754 c.1960C>T p.R654W missense 0.00000824
376. 23863392 c.2570A>G p.E857G missense 0.00000824
377. 23854231 c.5183A>G p.Q1728R missense 0.00000824
378. 23852450 c.5645G>T p.R1882L missense 0.00000824
379. 23869499 c.1547T>C p.M516T missense 0.00000824
380. 23866275 c.2065C>A p.P689T missense 0.00000824
381. 23863304 c.2658G>C p.K886N missense 0.00000824
382. 23876383 c.50G>A p.R17H missense 0.00000824
383. 23876398 c.35C>T p.A12V missense 0.00000824
384. 23855691 c.4792T>C p.S1598P missense 0.00000824
385. 23853895 c.5321A>G p.E1774G missense 0.00000824
386. 23851680 c.5753A>T p.Q1918L missense 0.00000824
387. 23869539 c.1507A>G p.K503E missense 0.00000824
388. 23866287 c.2053G>A p.V685M missense 0.00000824
389. 23853875 c.5341C>A p.L1781M missense 0.00000824
390. 23858804 c.3857A>T p.N1286I missense 0.00000824
391. 23855576 c.4907G>A p.R1636H missense 0.00000824
392. 23853824 c.5392C>T p.R1798W missense 0.00000824
393. 23876258 c.175G>A p.V59I missense 0.00000824
394. 23872617 c.838G>T p.A280S missense 0.00000824
395. 23868178 c.1650G>C p.K550N missense 0.00000824
396. 23853812 c.5404G>A p.A1802T missense 0.00000824
397. 23873509 c.731G>A p.R244H missense 0.00000824
398. 23868101 c.1727C>T p.A576V missense 0.00000824
399. 23858852 c.3809G>A p.R1270H missense 0.00000824
400. 23868023 c.1805T>C p.L602P missense 0.00000824
401. 23868003 c.1825C>A p.L609M missense 0.00000824
402. 23862143 c.3229C>T p.Q1077X nonsense 0.00000824
403. 23865525 c.2397G>A p.M799I missense 0.00000824
404. 23876313 c.120delC p.Asp41MetfsTer29 frameshift 0.00000824
405. 23862588 c.3068C>T p.S1023F missense 0.00000824
406. 23856974 c.4518C>G p.N1506K missense 0.00000824
407. 23853735 c.5481G>C p.E1827D missense 0.00000824
408. 23866290 c.2051-1G>A essential splice site 0.00000824
409. 23862235 c.3137T>C p.V1046A missense 0.00000824
410. 23862221 c.3151G>A p.E1051K missense 0.00000824
411. 23858613 c.3967delG p.Glu1323ArgfsTer105 frameshift 0.00000824
412. 23857429 c.4294G>A p.V1432M missense 0.00000824
413. 23854211 c.5203G>A p.D1735N missense 0.00000824
414. 23854123 c.5289+2T>C essential splice site 0.00000824
415. 23874432 c.502G>A p.D168N missense 0.00000824
416. 23855740 c.4743G>T p.K1581N missense 0.00000824
417. 23854147 c.5267A>G p.K1756R missense 0.00000824
418. 23862676 c.2980C>A p.L994M missense 0.00000824
419. 23873979 c.583T>C p.F195L missense 0.00000824
420. 23866417 c.2012T>G p.F671C missense 0.00000824
421. 23863377 c.2585A>G p.K862R missense 0.00000824
422. 23862152 c.3220G>T p.D1074Y missense 0.00000824
423. 23858667 c.3913delC p.R1305Gfs*123 frameshift 0.00000824
424. 23873546 c.694G>A p.G232S missense 0.00000824
425. 23855647 c.4836G>C p.E1612D missense 0.00000824
426. 23851644 c.5789G>A p.G1930D missense 0.00000824
427. 23874494 c.440G>A p.R147K missense 0.00000824
428. 23869468 c.1578G>C p.E526D missense 0.00000824
429. 23863093 c.2710G>T p.E904X nonsense 0.00000824
430. 23876312 c.121G>A p.D41N missense 0.00000824
431. 23858874 c.3787G>T p.V1263L missense 0.00000824
432. 23857410 c.4313A>T p.N1438I missense 0.00000824
433. 23855660 c.4823G>A p.R1608H missense 0.00000824
434. 23876339 c.94G>C p.D32H missense 0.00000824
435. 23868045 c.1783C>G p.L595V missense 0.00000824
436. 23862956 c.2847C>A p.C949X nonsense 0.00000824
437. 23866390 c.2039G>A p.R680Q missense 0.00000824
438. 23865927 c.2268C>A p.N756K missense 0.00000824
439. 23858720 c.3860G>A p.G1287E missense 0.00000824
440. 23855534 c.4949G>A p.S1650N missense 0.00000824
441. 23874970 c.211G>A p.V71M missense 0.00000824
442. 23872568 c.887C>T p.P296L missense 0.00000824
443. 23853788 c.5428G>A p.G1810S missense 0.00000824
444. 23868087 c.1741A>G p.I581V missense 0.00000824
445. 23862565 c.3091C>A p.Q1031K missense 0.00000824
446. 23856832 c.4556G>A p.G1519E missense 0.00000824
447. 23865901 c.2292+2T>C essential splice site 0.00000824
448. 23855229 c.5071C>T p.R1691C missense 0.00000824
449. 23853695 c.5521G>A p.G1841S missense 0.00000824
450. 23867996 c.1832A>T p.Q611L missense 0.00000824
451. 23862176 c.3196G>A p.E1066K missense 0.00000824
452. 23858103 c.4140C>G p.D1380E missense 0.00000824
453. 23856833 c.4555G>T p.Gly1519Ter nonsense 0.00000824
454. 23870007 c.1321G>A p.V441M missense 0.00000824
455. 23863434 c.2528A>G p.K843R missense 0.00000824
456. 23855612 c.4871T>C p.L1624P missense 0.00000824
457. 23855633 c.4850A>C p.K1617T missense 0.00000824
458. 23866762 c.1952C>T p.A651V missense 0.00000824
459. 23863395 c.2567A>G p.E856G missense 0.00000824
460. 23862209 c.3163C>T p.R1055W missense 0.00000824
461. 23858140 c.4103C>T p.S1368L missense 0.00000824
462. 23854157 c.5257G>C p.A1753P missense 0.00000824
463. 23858097 c.4146_4148delTCA p.Ile1382_Gln1383delinsMet inframe 0.00000824
464. 23866379 c.2050G>C p.G684R missense 0.00000824
465. 23851665 c.5768G>A p.R1923Q missense 0.00000824
466. 23854154 c.5260G>T p.E1754X nonsense 0.00000824
467. 23869526 c.1520T>C p.I507T missense 0.00000824
468. 23863333 c.2629G>A p.E877K missense 0.00000824
469. 23857468 c.4255A>C p.T1419P missense 0.00000824
470. 23851266 c.5803dupA p.Met1935AsnfsTer4 frameshift 0.00000824
471. 23857428 c.4295T>A p.V1432E missense 0.00000824
472. 23855715 c.4768C>T p.R1590C missense 0.00000824
473. 23851690 c.5743G>A p.A1915T missense 0.00000824
474. 23876360 c.73G>A p.E25K missense 0.00000824
475. 23858858 c.3803C>G p.A1268G missense 0.00000824
476. 23871753 c.1061C>T p.T354M missense 0.00000824
477. 23870052 c.1276G>A p.G426R missense 0.00000824
478. 23876314 c.119C>T p.P40L missense 0.00000824
479. 23858823 c.3838G>A p.A1280T missense 0.00000824
480. 23853827 c.5389C>G p.H1797D missense 0.00000824
481. 23872640 c.815C>T p.S272F missense 0.00000824
482. 23866223 c.2117T>A p.I706N missense 0.00000824
483. 23853815 c.5401G>A p.E1801K missense 0.00000824
484. 23868166 c.1662C>A p.Y554X nonsense 0.00000824
485. 23866199 c.2141G>A p.R714H missense 0.00000824
486. 23856988 c.4504C>T p.R1502W missense 0.00000824
487. 23855309 c.4991G>A p.R1664H missense 0.00000824
488. 23874913 c.268A>G p.M90V missense 0.00000824
489. 23868029 c.1799A>T p.D600V missense 0.00000824
490. 23853725 c.5491G>T p.E1831X nonsense 0.00000824
491. 23868011 c.1817T>C p.V606A missense 0.00000824
492. 23862672 c.2984C>G p.T995S missense 0.00000824
493. 23858667 c.3913C>T p.R1305W missense 0.00000824
494. 23862957 c.2846G>A p.C949Y missense 0.00000824
495. 23870122 c.1206C>A p.H402Q missense 0.00000824
496. 23865521 c.2401A>T p.I801F missense 0.00000824
497. 23862248 c.3124C>A p.Q1042K missense 0.00000824
498. 23856967 c.4525G>T p.E1509X nonsense 0.00000824
499. 23862232 c.3140G>A p.R1047H missense 0.00000824
500. 23856761 c.4627C>A p.Q1543K missense 0.00000824
501. 23858654 c.3926_3927delCT p.Ser1309LeufsTer32 frameshift 0.00000824
502. 23862169 c.3203T>C p.I1068T missense 0.00000824
503. 23855637 c.4846G>A p.V1616M missense 0.00000824
504. 23861826 c.3287T>C p.I1096T missense 0.00000824
505. 23858086 c.4157A>T p.E1386V missense 0.00000824
506. 23854222 c.5192A>T p.K1731M missense 0.00000824
507. 23869956 c.1372A>G p.I458V missense 0.00000824
508. 23854154 c.5260G>C p.E1754Q missense 0.00000824
509. 23863386 c.2576G>C p.G859A missense 0.00000824
510. 23855661 c.4822C>G p.R1608G missense 0.00000824
511. 23876344 c.89C>G p.P30R missense 0.00000824
512. 23869524 c.1522G>C p.E508Q missense 0.00000824
513. 23851645 c.5788G>C p.G1930R missense 0.00000824
514. 23869481 c.1565T>C p.I522T missense 0.00000824
515. 23863105 c.2698C>A p.L900I missense 0.00000824
516. 23858912 c.3749T>A p.V1250E missense 0.00000824
517. 23873522 c.718G>A p.D240N missense 0.00000824
518. 23876340 c.93T>G p.F31L missense 0.00000824
519. 23858890 c.3771G>T p.Q1257H missense 0.00000824
520. 23870021 c.1307T>C p.M436T missense 0.00000824
521. 23868065 c.1763A>G p.D588G missense 0.00000824
522. 23866178 c.2162G>A p.R721Q missense 0.00000824
523. 23866019 c.2176A>T p.I726F missense 0.00000824
524. 23868078 c.1750G>A p.A584T missense 0.00000824
525. 23862909 c.2894A>C p.K965T missense 0.00000824
526. 23858803 c.3858T>G p.N1286K missense 0.00000824
527. 23855565 c.4918G>A p.E1640K missense 0.00000824
528. 23872573 c.882G>C p.K294N missense 0.00000824
529. 23862245 c.3127G>C p.E1043Q missense 0.00000824
530. 23862137 c.3235G>C p.E1079Q missense 0.00000824
531. 23856853 c.4535C>T p.S1512L missense 0.00000824
532. 23865902 c.2292+1G>A essential splice site 0.00000824
533. 23871800 c.1014C>A p.D338E missense 0.00000824
534. 23853701 c.5515G>T p.V1839L missense 0.00000824
535. 23867997 c.1831C>A p.Q611K missense 0.00000824
536. 23855261 c.5039A>T p.N1680I missense 0.00000824
537. 23874507 c.427C>T p.R143W missense 0.00000824
538. 23870027 c.1301A>C p.E434A missense 0.00000824
539. 23867937 c.1891G>A p.G631R missense 0.00000824
540. 23863459 c.2503T>C p.Y835H missense 0.00000824
541. 23856773 c.4615A>C p.K1539Q missense 0.00000824
542. 23862217 c.3155G>A p.R1052Q missense 0.00000824
543. 23858150 c.4093A>G p.K1365E missense 0.00000824
544. 23866452 c.1977delG p.K659Nfs*2 frameshift 0.00000824
545. 23873952 c.610C>T p.R204C missense 0.00000824
546. 23869560 c.1486G>C p.V496L missense 0.00000824
547. 23866396 c.2033A>G p.N678S missense 0.00000824
548. 23863357 c.2605G>A p.E869K missense 0.00000824
549. 23851666 c.5767C>T p.R1923X nonsense 0.00000824
550. 23854225 c.5189A>G p.K1730R missense 0.00000824
551. 23866277 c.2063A>G p.N688S missense 0.00000824
552. 23863341 c.2621A>T p.E874V missense 0.00000824
553. 23851274 c.5797-2A>G essential splice site 0.00000824
554. 23855720 c.4763C>A p.A1588D missense 0.00000824
555. 23853919 c.5297T>C p.M1766T missense 0.00000824
556. 23866200 c.2140C>T p.R714C missense 0.00000824
557. 23862997 c.2806G>A p.A936T missense 0.00000824
558. 23857378 c.4345A>G p.R1449G missense 0.00000824
559. 23876332 c.101G>A p.R34H missense 0.00000824
560. 23855629 c.4854G>T p.K1618N missense 0.00000824
561. 23853841 c.5375T>C p.I1792T missense 0.00000824
562. 23858800 c.3859+2T>G essential splice site 0.00000824
563. 23876305 c.128A>G p.K43R missense 0.00000824
564. 23868190 c.1638C>A p.D546E missense 0.00000824
565. 23866224 c.2116A>T p.I706F missense 0.00000824
566. 23874957 c.224A>G p.Q75R missense 0.00000824
567. 23857027 c.4465G>A p.A1489T missense 0.00000824
568. 23853742 c.5474A>T p.E1825V missense 0.00000824
569. 23874928 c.253G>A p.D85N missense 0.00000824
570. 23868039 c.1789A>G p.K597E missense 0.00000824
571. 23865973 c.2222G>A p.R741K missense 0.00000824
572. 23865982 c.2213T>C p.I738T missense 0.00000824
573. 23868032 c.1796A>T p.K599M missense 0.00000824
574. 23868012 c.1816G>A p.V606I missense 0.00000824
575. 23865904 c.2291A>C p.K764T missense 0.00000824
576. 23862682 c.2974G>A p.A992T missense 0.00000824
577. 23858678 c.3902C>T p.S1301L missense 0.00000824
578. 23853692 c.5524A>G p.M1842V missense 0.00000824
579. 23858722 c.3860-2A>C essential splice site 0.00000824
580. 23874551 c.383A>G p.Y128C missense 0.00000824
581. 23871685 c.1129G>C p.D377H missense 0.00000824
582. 23867987 c.1841C>T p.S614F missense 0.00000824
583. 23867962 c.1866C>A p.F622L missense 0.00000824
584. 23862551 c.3105T>G p.D1035E missense 0.00000824
585. 23862874 c.2928+1G>A essential splice site 0.00000824
586. 23856764 c.4624C>A p.L1542M missense 0.00000824
587. 23856803 c.4585G>A p.E1529K missense 0.00000824
588. 23866753 c.1961G>A p.R654Q missense 0.00000824
589. 23853752 c.5464C>G p.R1822G missense 0.00000824
590. 23856995 c.4497dupC p.Phe1500LeufsTer17 frameshift 0.00000824
591. 23861826 c.3287T>A p.I1096N missense 0.00000824
592. 23858093 c.4150C>T p.R1384W missense 0.00000824
593. 23854222 c.5192A>C p.K1731T missense 0.00000824
594. 23855627 c.4856_4858delAGA p.Lys1619del inframe 0.00000824
595. 23869962 c.1366T>G p.Y456D missense 0.00000824
596. 23851768 c.5665G>A p.E1889K missense 0.00000824
597. 23858895 c.3766G>A p.D1256N missense 0.00000824
598. 23857417 c.4306C>A p.R1436S missense 0.00000824
599. 23853881 c.5335G>T p.A1779S missense 0.00000824
600. 23876347 c.86G>C p.R29P missense 0.00000824
601. 23873585 c.655G>T p.D219Y missense 0.00000824
602. 23869531 c.1515G>C p.E505D missense 0.00000824
603. 23853872 c.5344G>C p.E1782Q missense 0.00000824
604. 23851653 c.5780G>T p.R1927L missense 0.00000824
605. 23869484 c.1562G>A p.C521Y missense 0.00000824
606. 23866271 c.2069T>A p.L690Q missense 0.00000824
607. 23863299 c.2663A>G p.D888G missense 0.00000824
608. 23872576 c.879C>G p.N293K missense 0.00000824
609. 23868176 c.1652C>T p.A551V missense 0.00000824
610. 23853809 c.5407G>C p.E1803Q missense 0.00000824
611. 23869546 c.1500G>C p.E500D missense 0.00000824
612. 23868090 c.1738C>A p.L580M missense 0.00000824
613. 23858847 c.3814C>T p.L1272F missense 0.00000824
614. 23866765 c.1949C>T p.S650L missense 0.00000824
615. 23870143 c.1185C>G p.D395E missense 0.00000824
616. 23869464 c.1581+1G>A essential splice site 0.00000824
617. 23862940 c.2863G>C p.D955H missense 0.00000824
618. 23858803 c.3858T>A p.N1286K missense 0.00000824
619. 23853823 c.5393G>A p.R1798Q missense 0.00000824
620. 23871768 c.1046G>A p.G349D missense 0.00000824
621. 23867997 c.1831C>T p.Q611X nonsense 0.00000824
622. 23862579 c.3077A>C p.K1026T missense 0.00000824
623. 23856974 c.4518C>A p.N1506K missense 0.00000824
624. 23855286 c.5014A>T p.N1672Y missense 0.00000824
625. 23874889 c.292G>C p.E98Q missense 0.00000824
626. 23858600 c.3978+2T>C essential splice site 0.00000824
627. 23874521 c.413T>C p.V138A missense 0.00000824
628. 23852489 c.5606T>C p.L1869P missense 0.00000824
629. 23874510 c.424T>C p.Y142H missense 0.00000824
630. 23870033 c.1295T>C p.V432A missense 0.00000824
631. 23867952 c.1876G>A p.A626T missense 0.00000824
632. 23863474 c.2488C>T p.P830S missense 0.00000824
633. 23862233 c.3139C>T p.R1047C missense 0.00000824
634. 23855715 c.4768C>A p.R1590S missense 0.00000824
635. 23856786 c.4602G>C p.Q1534H missense 0.00000824
636. 23874018 c.544G>A p.A182T missense 0.00000824
637. 23851726 c.5707C>A p.H1903N missense 0.00000824
638. 23873972 c.590G>A p.S197N missense 0.00000824
639. 23869919 c.1409A>G p.D470G missense 0.00000824
640. 23866402 c.2027T>A p.I676N missense 0.00000824
641. 23863373 c.2589G>C p.E863D missense 0.00000824
642. 23863342 c.2620G>T p.E874X nonsense 0.00000824
643. 23857516 c.4207G>T p.E1403X nonsense 0.00000824
644. 23855757 c.4726C>T p.R1576W missense 0.00000824
645. 23857405 c.4318G>C p.A1440P missense 0.00000824
646. 23868212 c.1616G>A p.C539Y missense 0.00000824
647. 23873937 c.625A>G p.N209D missense 0.00000824
648. 23874919 c.262G>C p.E88Q missense 0.00000824
649. 23863075 c.2728C>A p.L910M missense 0.00000824
650. 23858859 c.3802G>A p.A1268T missense 0.00000824
651. 23873510 c.730C>T p.R244C missense 0.00000824
652. 23857371 c.4352T>C p.F1451S missense 0.00000824
653. 23853865 c.5351T>A p.M1784K missense 0.00000824
654. 23865916 c.2279T>C p.F760S missense 0.00000824
655. 23862711 c.2945A>G p.E982G missense 0.00000824
656. 23853762 c.5454A>T p.E1818D missense 0.00000824
657. 23874937 c.244C>T p.P82S missense 0.00000824
658. 23868044 c.1784T>A p.L595Q missense 0.00000824
659. 23866004 c.2191G>T p.A731S missense 0.00000824
660. 23863409 c.2553G>A p.M851I 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.