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. 23866227 c.2113C>T p.R705C missense 0.00008241
13. 23852468 c.5627A>G p.K1876R missense 0.00008241
14. 23853757 c.5459G>A p.R1820Q missense 0.00008238
15. 23863387 c.2575G>T p.G859W missense 0.00008237
16. 23870000 c.1328G>A p.R443H missense 0.00008237
17. 23862194 c.3178G>A p.D1060N 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. 23853758 c.5458C>T p.R1820W missense 0.00006590
30. 23857395 c.4328C>A p.A1443D missense 0.00006590
31. 23863351 c.2611C>T p.R871C 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. 23855661 c.4822C>T p.R1608C missense 0.00005766
42. 23857423 c.4300G>A p.V1434I missense 0.00005766
43. 23865989 c.2206C>A p.Q736K missense 0.00005766
44. 23858853 c.3808C>T p.R1270C missense 0.00005766
45. 23853868 c.5348G>A p.R1783H 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. 23871766 c.1048G>A p.V350I missense 0.00004943
52. 23858903 c.3758C>T p.T1253M missense 0.00004943
53. 23857507 c.4216G>A p.V1406M missense 0.00004943
54. 23857492 c.4231G>A p.A1411T missense 0.00004943
55. 23874868 c.313C>A p.L105I missense 0.00004943
56. 23863087 c.2716C>T p.R906C missense 0.00004942
57. 23869981 c.1347G>T p.E449D 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. 23863422 c.2540C>T p.T847M missense 0.00004119
69. 23858602 c.3978G>C p.K1326N missense 0.00004119
70. 23874978 c.203C>T p.T68M missense 0.00004119
71. 23874877 c.304C>A p.L102I missense 0.00004119
72. 23858874 c.3787G>A p.V1263M missense 0.00004119
73. 23874459 c.475G>A p.D159N missense 0.00004118
74. 23855655 c.4828C>T p.R1610C missense 0.00004118
75. 23858708 c.3872G>A p.R1291Q missense 0.00004118
76. 23862976 c.2827C>T p.R943C missense 0.00004118
77. 23862691 c.2965G>A p.E989K missense 0.00004118
78. 23858666 c.3914G>A p.R1305Q missense 0.00004118
79. 23851743 c.5690A>G p.K1897R missense 0.00004118
80. 23862152 c.3220G>A p.D1074N missense 0.00004118
81. 23858207 c.4036C>T p.R1346W missense 0.00003315
82. 23855163 c.5137G>A p.E1713K missense 0.00003304
83. 23863522 c.2440C>A p.L814M missense 0.00003304
84. 23857531 c.4192C>T p.R1398W missense 0.00003302
85. 23865556 c.2366G>A p.R789H missense 0.00003301
86. 23874590 c.346-2A>G essential splice site 0.00003298
87. 23865538 c.2384G>A p.R795Q missense 0.00003298
88. 23871675 c.1139A>C p.E380A missense 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. 23866242 c.2098G>A p.V700M missense 0.00003296
93. 23871706 c.1108C>T p.R370W missense 0.00003296
94. 23857516 c.4207G>A p.E1403K missense 0.00003296
95. 23855685 c.4798C>A p.Q1600K missense 0.00003295
96. 23851739 c.5694C>G p.F1898L missense 0.00003295
97. 23854136 c.5278G>A p.A1760T missense 0.00003295
98. 23858102 c.4141G>A p.A1381T missense 0.00003295
99. 23862667 c.2989G>C p.E997Q missense 0.00003295
100. 23865497 c.2425C>T p.R809C missense 0.00003295
101. 23858808 c.3853G>A p.E1285K missense 0.00003295
102. 23863347 c.2615G>A p.R872H missense 0.00003295
103. 23863081 c.2722G>A p.D908N missense 0.00003295
104. 23865937 c.2258T>C p.I753T missense 0.00003295
105. 23863362 c.2600A>G p.K867R missense 0.00003295
106. 23863086 c.2717G>A p.R906H missense 0.00003295
107. 23857417 c.4306C>T p.R1436C missense 0.00003295
108. 23853880 c.5336C>A p.A1779D missense 0.00003295
109. 23855654 c.4829G>A p.R1610H missense 0.00003295
110. 23851738 c.5695C>T p.R1899C missense 0.00003295
111. 23868125 c.1703G>A p.R568H missense 0.00003295
112. 23857416 c.4307G>A p.R1436H 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. 23866780 c.1934C>T p.S645F missense 0.00002473
126. 23871799 c.1015G>A p.V339M missense 0.00002473
127. 23855298 c.5002G>A p.D1668N missense 0.00002473
128. 23873927 c.635C>T p.A212V missense 0.00002473
129. 23855310 c.4990C>T p.R1664C missense 0.00002473
130. 23865524 c.2398C>T p.R800C missense 0.00002473
131. 23866272 c.2068delC p.Leu690TrpfsTer38 frameshift 0.00002472
132. 23855268 c.5032C>T p.R1678W missense 0.00002472
133. 23855267 c.5033G>A p.R1678Q missense 0.00002472
134. 23866455 c.1974C>A p.N658K missense 0.00002472
135. 23865521 c.2401A>G p.I801V missense 0.00002472
136. 23852439 c.5656G>A p.E1886K missense 0.00002472
137. 23855714 c.4769G>A p.R1590H missense 0.00002471
138. 23874453 c.481G>A p.A161T missense 0.00002471
139. 23854154 c.5260G>A p.E1754K missense 0.00002471
140. 23876273 c.160C>T p.R54W missense 0.00002471
141. 23862583 c.3073T>A p.S1025T missense 0.00002471
142. 23871726 c.1088T>C p.M363T missense 0.00002471
143. 23876333 c.100C>T p.R34C missense 0.00002471
144. 23861812 c.3301G>A p.V1101M missense 0.00002471
145. 23867966 c.1862T>A p.L621H missense 0.00002471
146. 23869554 c.1492G>A p.E498K missense 0.00002471
147. 23862727 c.2929G>C p.V977L missense 0.00002471
148. 23861814 c.3299A>T p.Q1100L missense 0.00002471
149. 23855583 c.4900G>A p.A1634T missense 0.00002471
150. 23866022 c.2173C>T p.R725C missense 0.00002471
151. 23856793 c.4595G>A p.R1532H missense 0.00002471
152. 23851727 c.5706G>T p.Q1902H missense 0.00002471
153. 23866276 c.2064C>A p.N688K missense 0.00002471
154. 23862976 c.2827C>A p.R943S missense 0.00002471
155. 23855609 c.4874A>G p.N1625S missense 0.00002471
156. 23874530 c.404A>G p.N135S missense 0.00002471
157. 23868126 c.1702C>T p.R568C missense 0.00002471
158. 23853800 c.5416G>A p.A1806T missense 0.00002471
159. 23862568 c.3088G>C p.E1030Q missense 0.00002471
160. 23855690 c.4793C>T p.S1598L missense 0.00002471
161. 23851702 c.5731C>T p.R1911W missense 0.00002471
162. 23873528 c.712C>T p.R238W missense 0.00002471
163. 23873561 c.679G>A p.A227T missense 0.00002471
164. 23858859 c.3802G>T p.A1268S missense 0.00002471
165. 23863387 c.2575G>A p.G859R 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. 23871908 c.1000G>A p.D334N missense 0.00001652
179. 23857062 c.4430G>A p.R1477H missense 0.00001652
180. 23871906 c.1002T>A p.D334E missense 0.00001652
181. 23857063 c.4429C>T p.R1477C missense 0.00001652
182. 23858195 c.4048G>A p.E1350K 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. 23876243 c.190G>A p.E64K missense 0.00001649
187. 23871807 c.1007C>A p.A336D missense 0.00001649
188. 23870162 c.1166T>C p.M389T missense 0.00001649
189. 23855315 c.4985C>T p.A1662V missense 0.00001649
190. 23866783 c.1931C>T p.S644L missense 0.00001649
191. 23876426 c.7G>A p.D3N missense 0.00001649
192. 23858162 c.4081C>T p.R1361C missense 0.00001649
193. 23869920 c.1408G>A p.D470N missense 0.00001649
194. 23855254 c.5046dupG p.Leu1683AlafsTer4 frameshift 0.00001649
195. 23869920 c.1408G>T p.D470Y missense 0.00001649
196. 23857037 c.4455G>C p.K1485N missense 0.00001649
197. 23866768 c.1946T>C p.V649A missense 0.00001649
198. 23855204 c.5096G>A p.R1699Q missense 0.00001649
199. 23869929 c.1399G>A p.E467K missense 0.00001648
200. 23858103 c.4140C>A p.D1380E missense 0.00001648
201. 23852442 c.5653G>A p.E1885K missense 0.00001648
202. 23858928 c.3733G>A p.A1245T missense 0.00001648
203. 23866185 c.2155G>A p.D719N missense 0.00001648
204. 23855568 c.4915G>A p.A1639T missense 0.00001648
205. 23866221 c.2119T>C p.C707R missense 0.00001648
206. 23857405 c.4318G>T p.A1440S missense 0.00001648
207. 23856981 c.4511A>G p.N1504S missense 0.00001648
208. 23858107 c.4136C>A p.T1379K missense 0.00001648
209. 23857018 c.4474_4476delGAG p.Glu1492del inframe 0.00001648
210. 23858906 c.3755G>A p.R1252Q missense 0.00001648
211. 23876348 c.85C>T p.R29W missense 0.00001648
212. 23866197 c.2143A>G p.I715V missense 0.00001648
213. 23870151 c.1177T>G p.S393A missense 0.00001648
214. 23855274 c.5026G>A p.V1676M missense 0.00001648
215. 23869955 c.1373T>C p.I458T missense 0.00001648
216. 23852451 c.5644C>T p.R1882C missense 0.00001648
217. 23852435 c.5660C>T p.A1887V missense 0.00001648
218. 23853898 c.5318A>T p.K1773M missense 0.00001648
219. 23857377 c.4346G>A p.R1449K missense 0.00001648
220. 23853741 c.5475G>C p.E1825D missense 0.00001648
221. 23857398 c.4325C>T p.A1442V missense 0.00001648
222. 23876258 c.175G>C p.V59L missense 0.00001648
223. 23866254 c.2086C>T p.R696C missense 0.00001648
224. 23874852 c.329C>T p.A110V missense 0.00001648
225. 23855277 c.5023A>G p.I1675V missense 0.00001648
226. 23858092 c.4151G>A p.R1384Q missense 0.00001648
227. 23856794 c.4594C>G p.R1532G missense 0.00001648
228. 23855264 c.5036G>A p.R1679H missense 0.00001648
229. 23871742 c.1072A>G p.M358V missense 0.00001648
230. 23876365 c.68G>A p.R23H missense 0.00001648
231. 23874539 c.395_396insTAC p.Pro132_Val133insThr inframe 0.00001648
232. 23862181 c.3191C>T p.T1064I missense 0.00001647
233. 23851264 c.5805G>T p.M1935I missense 0.00001647
234. 23862635 c.3021G>T p.Q1007H missense 0.00001647
235. 23862218 c.3154C>T p.R1052X nonsense 0.00001647
236. 23863032 c.2771T>C p.M924T missense 0.00001647
237. 23876314 c.119C>G p.P40R missense 0.00001647
238. 23863087 c.2716C>A p.R906S missense 0.00001647
239. 23855629 c.4854G>C p.K1618N missense 0.00001647
240. 23851639 c.5794A>T p.K1932X nonsense 0.00001647
241. 23874969 c.212T>C p.V71A missense 0.00001647
242. 23866021 c.2174G>T p.R725L missense 0.00001647
243. 23861839 c.3274C>G p.Q1092E missense 0.00001647
244. 23862562 c.3094C>T p.Q1032X nonsense 0.00001647
245. 23855662 c.4821_4822delAC p.Arg1608GlnfsTer18 frameshift 0.00001647
246. 23870003 c.1325C>T p.T442M missense 0.00001647
247. 23857456 c.4267C>A p.L1423I missense 0.00001647
248. 23851698 c.5735C>T p.A1912V missense 0.00001647
249. 23851653 c.5780G>A p.R1927H missense 0.00001647
250. 23874906 c.275T>C p.M92T missense 0.00001647
251. 23870070 c.1258C>T p.Q420X nonsense 0.00001647
252. 23867953 c.1875C>A p.Y625X nonsense 0.00001647
253. 23853866 c.5350A>G p.M1784V missense 0.00001647
254. 23873506 c.734T>C p.F245S missense 0.00001647
255. 23862727 c.2929G>A p.V977M missense 0.00001647
256. 23874948 c.233A>G p.Q78R missense 0.00001647
257. 23862705 c.2951T>C p.M984T missense 0.00001647
258. 23861824 c.3289G>A p.E1097K missense 0.00001647
259. 23874513 c.421G>A p.A141T missense 0.00001647
260. 23874507 c.427C>G p.R143G missense 0.00001647
261. 23868189 c.1639A>G p.M547V missense 0.00001647
262. 23873527 c.713G>A p.R238Q missense 0.00001647
263. 23873549 c.691T>C p.F231L missense 0.00001647
264. 23865922 c.2273A>G p.Y758C missense 0.00001647
265. 23867974 c.1854G>A p.M618I missense 0.00001647
266. 23874449 c.485A>G p.Y162C missense 0.00001647
267. 23866421 c.2008C>T p.H670Y missense 0.00001647
268. 23873564 c.676C>T p.P226S missense 0.00001647
269. 23863086 c.2717G>T p.R906L missense 0.00001647
270. 23862961 c.2842G>A p.E948K missense 0.00001647
271. 23870079 c.1249A>G p.S417G missense 0.00001647
272. 23862631 c.3025C>G p.L1009V missense 0.00001647
273. 23863371 c.2591C>T p.T864M missense 0.00001647
274. 23874515 c.419C>A p.A140D missense 0.00001647
275. 23855702 c.4781G>A p.R1594Q missense 0.00001647
276. 23863408 c.2554G>A p.A852T missense 0.00001647
277. 23869511 c.1535T>C p.I512T missense 0.00001647
278. 23872591 c.864C>G p.Y288X nonsense 0.00001647
279. 23873994 c.568C>T p.R190C missense 0.00001647
280. 23857437 c.4286A>T p.D1429V missense 0.00001647
281. 23863065 c.2738A>G p.N913S missense 0.00001647
282. 23858657 c.3923T>G p.L1308R missense 0.00001647
283. 23858825 c.3836G>A p.R1279Q 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. 23858245 c.3998A>G p.H1333R missense 0.00000845
295. 23855833 c.4651-1G>A essential splice site 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. 23855814 c.4669G>A p.E1557K missense 0.00000838
299. 23858233 c.4010C>T p.S1337L 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. 23855802 c.4681C>T p.L1561F missense 0.00000833
304. 23858222 c.4021G>T p.D1341Y 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. 23855785 c.4698G>C p.E1566D missense 0.00000829
311. 23857096 c.4396C>G p.Q1466E missense 0.00000829
312. 23859357 c.3641G>A p.R1214Q missense 0.00000829
313. 23857098 c.4394C>T p.S1465L missense 0.00000829
314. 23871974 c.934G>A p.A312T missense 0.00000829
315. 23857095 c.4397A>G p.Q1466R 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. 23855160 c.5140C>T p.R1714W missense 0.00000826
328. 23855340 c.4960G>A p.D1654N missense 0.00000826
329. 23865584 c.2338G>A p.D780N missense 0.00000826
330. 23863514 c.2448C>G p.I816M missense 0.00000826
331. 23853649 c.5565+2T>A essential splice site 0.00000826
332. 23857065 c.4427C>T p.A1476V missense 0.00000826
333. 23871943 c.965C>G p.A322G missense 0.00000826
334. 23858196 c.4047C>G p.Y1349X nonsense 0.00000826
335. 23871914 c.994G>A p.A332T missense 0.00000826
336. 23871905 c.1002+1G>A essential splice site 0.00000826
337. 23853653 c.5563C>T p.Q1855X nonsense 0.00000826
338. 23865568 c.2354G>A p.R785H missense 0.00000826
339. 23853656 c.5560T>C p.Y1854H missense 0.00000826
340. 23857045 c.4447C>T p.L1483F missense 0.00000825
341. 23865559 c.2363C>G p.T788R missense 0.00000825
342. 23866793 c.1921A>C p.K641Q missense 0.00000825
343. 23873920 c.642G>T p.K214N missense 0.00000825
344. 23865565 c.2357T>A p.I786N missense 0.00000825
345. 23855174 c.5126T>C p.I1709T missense 0.00000825
346. 23874842 c.339G>T p.M113I missense 0.00000825
347. 23857046 c.4446G>C p.E1482D missense 0.00000825
348. 23855319 c.4981G>A p.D1661N missense 0.00000825
349. 23865551 c.2371C>G p.Q791E missense 0.00000825
350. 23874838 c.343T>C p.Y115H missense 0.00000825
351. 23865565 c.2357T>G p.I786S missense 0.00000825
352. 23866806 c.1908C>A p.S636R missense 0.00000825
353. 23855762 c.4721T>A p.I1574N missense 0.00000825
354. 23855189 c.5111C>T p.A1704V missense 0.00000825
355. 23858173 c.4070C>T p.A1357V missense 0.00000825
356. 23855201 c.5099C>A p.S1700Y missense 0.00000825
357. 23853682 c.5534G>T p.S1845I missense 0.00000825
358. 23874842 c.339G>A p.M113I missense 0.00000825
359. 23857051 c.4441A>T p.T1481S missense 0.00000825
360. 0 c.-13-1G>C essential splice site 0.00000825
361. 23871932 c.976G>T p.D326Y missense 0.00000825
362. 23851768 c.5665G>A p.E1889K missense 0.00000824
363. 23856803 c.4585G>A p.E1529K missense 0.00000824
364. 23866753 c.1961G>A p.R654Q missense 0.00000824
365. 23853752 c.5464C>G p.R1822G missense 0.00000824
366. 23856995 c.4497dupC p.Phe1500LeufsTer17 frameshift 0.00000824
367. 23861826 c.3287T>A p.I1096N missense 0.00000824
368. 23858093 c.4150C>T p.R1384W missense 0.00000824
369. 23854222 c.5192A>C p.K1731T missense 0.00000824
370. 23855627 c.4856_4858delAGA p.Lys1619del inframe 0.00000824
371. 23869962 c.1366T>G p.Y456D missense 0.00000824
372. 23858895 c.3766G>A p.D1256N missense 0.00000824
373. 23857417 c.4306C>A p.R1436S missense 0.00000824
374. 23853881 c.5335G>T p.A1779S missense 0.00000824
375. 23876347 c.86G>C p.R29P missense 0.00000824
376. 23873585 c.655G>T p.D219Y missense 0.00000824
377. 23869531 c.1515G>C p.E505D missense 0.00000824
378. 23853872 c.5344G>C p.E1782Q missense 0.00000824
379. 23851653 c.5780G>T p.R1927L missense 0.00000824
380. 23869484 c.1562G>A p.C521Y missense 0.00000824
381. 23866271 c.2069T>A p.L690Q missense 0.00000824
382. 23863299 c.2663A>G p.D888G missense 0.00000824
383. 23853823 c.5393G>A p.R1798Q missense 0.00000824
384. 23872576 c.879C>G p.N293K missense 0.00000824
385. 23868176 c.1652C>T p.A551V missense 0.00000824
386. 23853809 c.5407G>C p.E1803Q missense 0.00000824
387. 23869546 c.1500G>C p.E500D missense 0.00000824
388. 23868090 c.1738C>A p.L580M missense 0.00000824
389. 23858847 c.3814C>T p.L1272F missense 0.00000824
390. 23866765 c.1949C>T p.S650L missense 0.00000824
391. 23870143 c.1185C>G p.D395E missense 0.00000824
392. 23869464 c.1581+1G>A essential splice site 0.00000824
393. 23862940 c.2863G>C p.D955H missense 0.00000824
394. 23858803 c.3858T>A p.N1286K missense 0.00000824
395. 23871768 c.1046G>A p.G349D missense 0.00000824
396. 23867997 c.1831C>T p.Q611X nonsense 0.00000824
397. 23862579 c.3077A>C p.K1026T missense 0.00000824
398. 23856974 c.4518C>A p.N1506K missense 0.00000824
399. 23855286 c.5014A>T p.N1672Y missense 0.00000824
400. 23874889 c.292G>C p.E98Q missense 0.00000824
401. 23856786 c.4602G>C p.Q1534H missense 0.00000824
402. 23858600 c.3978+2T>C essential splice site 0.00000824
403. 23874521 c.413T>C p.V138A missense 0.00000824
404. 23852489 c.5606T>C p.L1869P missense 0.00000824
405. 23874510 c.424T>C p.Y142H missense 0.00000824
406. 23870033 c.1295T>C p.V432A missense 0.00000824
407. 23867952 c.1876G>A p.A626T missense 0.00000824
408. 23863474 c.2488C>T p.P830S missense 0.00000824
409. 23862233 c.3139C>T p.R1047C missense 0.00000824
410. 23855715 c.4768C>A p.R1590S missense 0.00000824
411. 23857405 c.4318G>C p.A1440P missense 0.00000824
412. 23874018 c.544G>A p.A182T missense 0.00000824
413. 23851726 c.5707C>A p.H1903N missense 0.00000824
414. 23873972 c.590G>A p.S197N missense 0.00000824
415. 23869919 c.1409A>G p.D470G missense 0.00000824
416. 23866402 c.2027T>A p.I676N missense 0.00000824
417. 23863373 c.2589G>C p.E863D missense 0.00000824
418. 23863342 c.2620G>T p.E874X nonsense 0.00000824
419. 23857516 c.4207G>T p.E1403X nonsense 0.00000824
420. 23855757 c.4726C>T p.R1576W missense 0.00000824
421. 23868212 c.1616G>A p.C539Y missense 0.00000824
422. 23873937 c.625A>G p.N209D missense 0.00000824
423. 23874919 c.262G>C p.E88Q missense 0.00000824
424. 23863075 c.2728C>A p.L910M missense 0.00000824
425. 23858859 c.3802G>A p.A1268T missense 0.00000824
426. 23873510 c.730C>T p.R244C missense 0.00000824
427. 23857371 c.4352T>C p.F1451S missense 0.00000824
428. 23853865 c.5351T>A p.M1784K missense 0.00000824
429. 23865916 c.2279T>C p.F760S missense 0.00000824
430. 23862711 c.2945A>G p.E982G missense 0.00000824
431. 23853762 c.5454A>T p.E1818D missense 0.00000824
432. 23874937 c.244C>T p.P82S missense 0.00000824
433. 23868044 c.1784T>A p.L595Q missense 0.00000824
434. 23866004 c.2191G>T p.A731S missense 0.00000824
435. 23863409 c.2553G>A p.M851I missense 0.00000824
436. 23857431 c.4292T>C p.M1431T missense 0.00000824
437. 23874853 c.328G>A p.A110T missense 0.00000824
438. 23856767 c.4621G>C p.E1541Q missense 0.00000824
439. 23853694 c.5522G>A p.G1841D missense 0.00000824
440. 23862928 c.2875C>G p.L959V missense 0.00000824
441. 23874576 c.358C>G p.L120V missense 0.00000824
442. 23871689 c.1125G>T p.E375D missense 0.00000824
443. 23867988 c.1840T>G p.S614A missense 0.00000824
444. 23865524 c.2398C>A p.R800S missense 0.00000824
445. 23856799 c.4589A>T p.K1530M missense 0.00000824
446. 23874488 c.446A>T p.E149V missense 0.00000824
447. 23851770 c.5663A>C p.E1888A missense 0.00000824
448. 23854158 c.5256C>G p.N1752K missense 0.00000824
449. 23866754 c.1960C>T p.R654W missense 0.00000824
450. 23863392 c.2570A>G p.E857G missense 0.00000824
451. 23854231 c.5183A>G p.Q1728R missense 0.00000824
452. 23852450 c.5645G>T p.R1882L missense 0.00000824
453. 23869499 c.1547T>C p.M516T missense 0.00000824
454. 23866275 c.2065C>A p.P689T missense 0.00000824
455. 23863304 c.2658G>C p.K886N missense 0.00000824
456. 23876383 c.50G>A p.R17H missense 0.00000824
457. 23876398 c.35C>T p.A12V missense 0.00000824
458. 23855691 c.4792T>C p.S1598P missense 0.00000824
459. 23853895 c.5321A>G p.E1774G missense 0.00000824
460. 23851680 c.5753A>T p.Q1918L missense 0.00000824
461. 23869539 c.1507A>G p.K503E missense 0.00000824
462. 23866287 c.2053G>A p.V685M missense 0.00000824
463. 23853875 c.5341C>A p.L1781M missense 0.00000824
464. 23858804 c.3857A>T p.N1286I missense 0.00000824
465. 23855576 c.4907G>A p.R1636H missense 0.00000824
466. 23853824 c.5392C>T p.R1798W missense 0.00000824
467. 23876258 c.175G>A p.V59I missense 0.00000824
468. 23872617 c.838G>T p.A280S missense 0.00000824
469. 23868178 c.1650G>C p.K550N missense 0.00000824
470. 23853812 c.5404G>A p.A1802T missense 0.00000824
471. 23873509 c.731G>A p.R244H missense 0.00000824
472. 23868101 c.1727C>T p.A576V missense 0.00000824
473. 23858852 c.3809G>A p.R1270H missense 0.00000824
474. 23866290 c.2051-1G>A essential splice site 0.00000824
475. 23868023 c.1805T>C p.L602P missense 0.00000824
476. 23868003 c.1825C>A p.L609M missense 0.00000824
477. 23862143 c.3229C>T p.Q1077X nonsense 0.00000824
478. 23865525 c.2397G>A p.M799I missense 0.00000824
479. 23876313 c.120delC p.Asp41MetfsTer29 frameshift 0.00000824
480. 23862588 c.3068C>T p.S1023F missense 0.00000824
481. 23856974 c.4518C>G p.N1506K missense 0.00000824
482. 23853735 c.5481G>C p.E1827D missense 0.00000824
483. 23862235 c.3137T>C p.V1046A missense 0.00000824
484. 23862221 c.3151G>A p.E1051K missense 0.00000824
485. 23858613 c.3967delG p.Glu1323ArgfsTer105 frameshift 0.00000824
486. 23857429 c.4294G>A p.V1432M missense 0.00000824
487. 23854211 c.5203G>A p.D1735N missense 0.00000824
488. 23854123 c.5289+2T>C essential splice site 0.00000824
489. 23874432 c.502G>A p.D168N missense 0.00000824
490. 23855740 c.4743G>T p.K1581N missense 0.00000824
491. 23854147 c.5267A>G p.K1756R missense 0.00000824
492. 23862676 c.2980C>A p.L994M missense 0.00000824
493. 23873979 c.583T>C p.F195L missense 0.00000824
494. 23866417 c.2012T>G p.F671C missense 0.00000824
495. 23863377 c.2585A>G p.K862R missense 0.00000824
496. 23862152 c.3220G>T p.D1074Y missense 0.00000824
497. 23858667 c.3913delC p.R1305Gfs*123 frameshift 0.00000824
498. 23876339 c.94G>C p.D32H missense 0.00000824
499. 23873546 c.694G>A p.G232S missense 0.00000824
500. 23855647 c.4836G>C p.E1612D missense 0.00000824
501. 23851644 c.5789G>A p.G1930D missense 0.00000824
502. 23874494 c.440G>A p.R147K missense 0.00000824
503. 23869468 c.1578G>C p.E526D missense 0.00000824
504. 23863093 c.2710G>T p.E904X nonsense 0.00000824
505. 23876312 c.121G>A p.D41N missense 0.00000824
506. 23858874 c.3787G>T p.V1263L missense 0.00000824
507. 23857410 c.4313A>T p.N1438I missense 0.00000824
508. 23855660 c.4823G>A p.R1608H missense 0.00000824
509. 23868045 c.1783C>G p.L595V missense 0.00000824
510. 23862956 c.2847C>A p.C949X nonsense 0.00000824
511. 23866390 c.2039G>A p.R680Q missense 0.00000824
512. 23865927 c.2268C>A p.N756K missense 0.00000824
513. 23858720 c.3860G>A p.G1287E missense 0.00000824
514. 23855534 c.4949G>A p.S1650N missense 0.00000824
515. 23874970 c.211G>A p.V71M missense 0.00000824
516. 23872568 c.887C>T p.P296L missense 0.00000824
517. 23853788 c.5428G>A p.G1810S missense 0.00000824
518. 23868087 c.1741A>G p.I581V missense 0.00000824
519. 23862565 c.3091C>A p.Q1031K missense 0.00000824
520. 23856832 c.4556G>A p.G1519E missense 0.00000824
521. 23865901 c.2292+2T>C essential splice site 0.00000824
522. 23855229 c.5071C>T p.R1691C missense 0.00000824
523. 23853695 c.5521G>A p.G1841S missense 0.00000824
524. 23867996 c.1832A>T p.Q611L missense 0.00000824
525. 23862176 c.3196G>A p.E1066K missense 0.00000824
526. 23858097 c.4146_4148delTCA p.Ile1382_Gln1383delinsMet inframe 0.00000824
527. 23858103 c.4140C>G p.D1380E missense 0.00000824
528. 23856833 c.4555G>T p.Gly1519Ter nonsense 0.00000824
529. 23870007 c.1321G>A p.V441M missense 0.00000824
530. 23863434 c.2528A>G p.K843R missense 0.00000824
531. 23855612 c.4871T>C p.L1624P missense 0.00000824
532. 23855633 c.4850A>C p.K1617T missense 0.00000824
533. 23866762 c.1952C>T p.A651V missense 0.00000824
534. 23863395 c.2567A>G p.E856G missense 0.00000824
535. 23862209 c.3163C>T p.R1055W missense 0.00000824
536. 23858140 c.4103C>T p.S1368L missense 0.00000824
537. 23854157 c.5257G>C p.A1753P missense 0.00000824
538. 23866379 c.2050G>C p.G684R missense 0.00000824
539. 23851665 c.5768G>A p.R1923Q missense 0.00000824
540. 23854154 c.5260G>T p.E1754X nonsense 0.00000824
541. 23869526 c.1520T>C p.I507T missense 0.00000824
542. 23863333 c.2629G>A p.E877K missense 0.00000824
543. 23857468 c.4255A>C p.T1419P missense 0.00000824
544. 23851266 c.5803dupA p.Met1935AsnfsTer4 frameshift 0.00000824
545. 23857428 c.4295T>A p.V1432E missense 0.00000824
546. 23855715 c.4768C>T p.R1590C missense 0.00000824
547. 23851690 c.5743G>A p.A1915T missense 0.00000824
548. 23876360 c.73G>A p.E25K missense 0.00000824
549. 23866199 c.2141G>A p.R714H missense 0.00000824
550. 23858858 c.3803C>G p.A1268G missense 0.00000824
551. 23871753 c.1061C>T p.T354M missense 0.00000824
552. 23870052 c.1276G>A p.G426R missense 0.00000824
553. 23876314 c.119C>T p.P40L missense 0.00000824
554. 23858823 c.3838G>A p.A1280T missense 0.00000824
555. 23853827 c.5389C>G p.H1797D missense 0.00000824
556. 23872640 c.815C>T p.S272F missense 0.00000824
557. 23866223 c.2117T>A p.I706N missense 0.00000824
558. 23853815 c.5401G>A p.E1801K missense 0.00000824
559. 23868166 c.1662C>A p.Y554X nonsense 0.00000824
560. 23856988 c.4504C>T p.R1502W missense 0.00000824
561. 23855309 c.4991G>A p.R1664H missense 0.00000824
562. 23874913 c.268A>G p.M90V missense 0.00000824
563. 23868029 c.1799A>T p.D600V missense 0.00000824
564. 23853725 c.5491G>T p.E1831X nonsense 0.00000824
565. 23868011 c.1817T>C p.V606A missense 0.00000824
566. 23862672 c.2984C>G p.T995S missense 0.00000824
567. 23858667 c.3913C>T p.R1305W missense 0.00000824
568. 23862957 c.2846G>A p.C949Y missense 0.00000824
569. 23870122 c.1206C>A p.H402Q missense 0.00000824
570. 23865521 c.2401A>T p.I801F missense 0.00000824
571. 23862248 c.3124C>A p.Q1042K missense 0.00000824
572. 23856967 c.4525G>T p.E1509X nonsense 0.00000824
573. 23862232 c.3140G>A p.R1047H missense 0.00000824
574. 23856761 c.4627C>A p.Q1543K missense 0.00000824
575. 23858654 c.3926_3927delCT p.Ser1309LeufsTer32 frameshift 0.00000824
576. 23863386 c.2576G>C p.G859A missense 0.00000824
577. 23862169 c.3203T>C p.I1068T missense 0.00000824
578. 23855637 c.4846G>A p.V1616M missense 0.00000824
579. 23861826 c.3287T>C p.I1096T missense 0.00000824
580. 23858086 c.4157A>T p.E1386V missense 0.00000824
581. 23854222 c.5192A>T p.K1731M missense 0.00000824
582. 23869956 c.1372A>G p.I458V missense 0.00000824
583. 23854154 c.5260G>C p.E1754Q missense 0.00000824
584. 23858890 c.3771G>T p.Q1257H missense 0.00000824
585. 23855661 c.4822C>G p.R1608G missense 0.00000824
586. 23876344 c.89C>G p.P30R missense 0.00000824
587. 23869524 c.1522G>C p.E508Q missense 0.00000824
588. 23851645 c.5788G>C p.G1930R missense 0.00000824
589. 23869481 c.1565T>C p.I522T missense 0.00000824
590. 23863105 c.2698C>A p.L900I missense 0.00000824
591. 23858912 c.3749T>A p.V1250E missense 0.00000824
592. 23873522 c.718G>A p.D240N missense 0.00000824
593. 23876340 c.93T>G p.F31L missense 0.00000824
594. 23870021 c.1307T>C p.M436T missense 0.00000824
595. 23868065 c.1763A>G p.D588G missense 0.00000824
596. 23866178 c.2162G>A p.R721Q missense 0.00000824
597. 23866019 c.2176A>T p.I726F missense 0.00000824
598. 23868078 c.1750G>A p.A584T missense 0.00000824
599. 23862909 c.2894A>C p.K965T missense 0.00000824
600. 23858803 c.3858T>G p.N1286K missense 0.00000824
601. 23855565 c.4918G>A p.E1640K missense 0.00000824
602. 23872573 c.882G>C p.K294N missense 0.00000824
603. 23862245 c.3127G>C p.E1043Q missense 0.00000824
604. 23862137 c.3235G>C p.E1079Q missense 0.00000824
605. 23856853 c.4535C>T p.S1512L missense 0.00000824
606. 23865902 c.2292+1G>A essential splice site 0.00000824
607. 23871800 c.1014C>A p.D338E missense 0.00000824
608. 23853701 c.5515G>T p.V1839L missense 0.00000824
609. 23867997 c.1831C>A p.Q611K missense 0.00000824
610. 23858150 c.4093A>G p.K1365E missense 0.00000824
611. 23855261 c.5039A>T p.N1680I missense 0.00000824
612. 23874507 c.427C>T p.R143W missense 0.00000824
613. 23870027 c.1301A>C p.E434A missense 0.00000824
614. 23867937 c.1891G>A p.G631R missense 0.00000824
615. 23863459 c.2503T>C p.Y835H missense 0.00000824
616. 23856773 c.4615A>C p.K1539Q missense 0.00000824
617. 23862217 c.3155G>A p.R1052Q missense 0.00000824
618. 23855720 c.4763C>A p.A1588D missense 0.00000824
619. 23853919 c.5297T>C p.M1766T missense 0.00000824
620. 23866452 c.1977delG p.K659Nfs*2 frameshift 0.00000824
621. 23873952 c.610C>T p.R204C missense 0.00000824
622. 23869560 c.1486G>C p.V496L missense 0.00000824
623. 23866396 c.2033A>G p.N678S missense 0.00000824
624. 23863357 c.2605G>A p.E869K missense 0.00000824
625. 23851666 c.5767C>T p.R1923X nonsense 0.00000824
626. 23854225 c.5189A>G p.K1730R missense 0.00000824
627. 23866277 c.2063A>G p.N688S missense 0.00000824
628. 23863341 c.2621A>T p.E874V missense 0.00000824
629. 23851274 c.5797-2A>G essential splice site 0.00000824
630. 23866200 c.2140C>T p.R714C missense 0.00000824
631. 23862997 c.2806G>A p.A936T missense 0.00000824
632. 23857378 c.4345A>G p.R1449G missense 0.00000824
633. 23876332 c.101G>A p.R34H missense 0.00000824
634. 23855629 c.4854G>T p.K1618N missense 0.00000824
635. 23853841 c.5375T>C p.I1792T missense 0.00000824
636. 23858800 c.3859+2T>G essential splice site 0.00000824
637. 23876305 c.128A>G p.K43R missense 0.00000824
638. 23868190 c.1638C>A p.D546E missense 0.00000824
639. 23866224 c.2116A>T p.I706F missense 0.00000824
640. 23874957 c.224A>G p.Q75R missense 0.00000824
641. 23857027 c.4465G>A p.A1489T missense 0.00000824
642. 23853742 c.5474A>T p.E1825V missense 0.00000824
643. 23874928 c.253G>A p.D85N missense 0.00000824
644. 23868039 c.1789A>G p.K597E missense 0.00000824
645. 23865973 c.2222G>A p.R741K missense 0.00000824
646. 23865982 c.2213T>C p.I738T missense 0.00000824
647. 23868032 c.1796A>T p.K599M missense 0.00000824
648. 23868012 c.1816G>A p.V606I missense 0.00000824
649. 23865904 c.2291A>C p.K764T missense 0.00000824
650. 23862682 c.2974G>A p.A992T missense 0.00000824
651. 23858678 c.3902C>T p.S1301L missense 0.00000824
652. 23853692 c.5524A>G p.M1842V missense 0.00000824
653. 23858722 c.3860-2A>C essential splice site 0.00000824
654. 23874551 c.383A>G p.Y128C missense 0.00000824
655. 23871685 c.1129G>C p.D377H missense 0.00000824
656. 23867987 c.1841C>T p.S614F missense 0.00000824
657. 23867962 c.1866C>A p.F622L missense 0.00000824
658. 23862551 c.3105T>G p.D1035E missense 0.00000824
659. 23862874 c.2928+1G>A essential splice site 0.00000824
660. 23856764 c.4624C>A p.L1542M 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.