MYH6 non-truncating variants in ExAC

MYH6 gene summary
MYH6 variants in DCM

The table below lists the MYH6 non-truncating 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 frequency▼Populations*
1. 23876426 c.7G>A p.D3N missense 0.00001649●●●●●●
2. 23876398 c.35C>T p.A12V missense 0.00000824●●●●●●
3. 23876383 c.50G>A p.R17H missense 0.00000824●●●●●●
4. 23876365 c.68G>A p.R23H missense 0.00001648●●●●●●
5. 23876360 c.73G>A p.E25K missense 0.00000824●●●●●●
6. 23876356 c.77C>G p.A26G missense 0.00005767●●●●●●
7. 23876348 c.85C>T p.R29W missense 0.00001648●●●●●●
8. 23876347 c.86G>C p.R29P missense 0.00000824●●●●●●
9. 23876344 c.89C>G p.P30R missense 0.00000824●●●●●●
10. 23876340 c.93T>G p.F31L missense 0.00000824●●●●●●
11. 23876339 c.94G>C p.D32H missense 0.00000824●●●●●●
12. 23876333 c.100C>T p.R34C missense 0.00002471●●●●●●
13. 23876332 c.101G>A p.R34H missense 0.00000824●●●●●●
14. 23876318 c.115G>A p.V39M missense 0.00009061●●●●●●
15. 23876314 c.119C>G p.P40R missense 0.00001647●●●●●●
16. 23876314 c.119C>T p.P40L missense 0.00000824●●●●●●
17. 23876312 c.121G>A p.D41N missense 0.00000824●●●●●●
18. 23876305 c.128A>G p.K43R missense 0.00000824●●●●●●
19. 23876273 c.160C>T p.R54W missense 0.00002471●●●●●●
20. 23876272 c.161G>A p.R54Q missense 0.00006591●●●●●●
21. 23876258 c.175G>C p.V59L missense 0.00001648●●●●●●
22. 23876258 c.175G>A p.V59I missense 0.00000824●●●●●●
23. 23876243 c.190G>A p.E64K missense 0.00001649●●●●●●
24. 23874978 c.203C>T p.T68M missense 0.00004119●●●●●●
25. 23874970 c.211G>A p.V71M missense 0.00000824●●●●●●
26. 23874969 c.212T>C p.V71A missense 0.00001647●●●●●●
27. 23874957 c.224A>G p.Q75R missense 0.00000824●●●●●●
28. 23874948 c.233A>G p.Q78R missense 0.00001647●●●●●●
29. 23874937 c.244C>T p.P82S missense 0.00000824●●●●●●
30. 23874928 c.253G>A p.D85N missense 0.00000824●●●●●●
31. 23874919 c.262G>C p.E88Q missense 0.00000824●●●●●●
32. 23874913 c.268A>G p.M90V missense 0.00000824●●●●●●
33. 23874906 c.275T>C p.M92T missense 0.00001647●●●●●●
34. 23874889 c.292G>C p.E98Q missense 0.00000824●●●●●●
35. 23874877 c.304C>A p.L102I missense 0.00004119●●●●●●
36. 23874868 c.313C>A p.L105I missense 0.00004943●●●●●●
37. 23874853 c.328G>A p.A110T missense 0.00000824●●●●●●
38. 23874852 c.329C>T p.A110V missense 0.00001648●●●●●●
39. 23874842 c.339G>T p.M113I missense 0.00000825●●●●●●
40. 23874842 c.339G>A p.M113I missense 0.00000825●●●●●●
41. 23874838 c.343T>C p.Y115H missense 0.00000825●●●●●●
42. 23874576 c.358C>G p.L120V missense 0.00000824●●●●●●
43. 23874551 c.383A>G p.Y128C missense 0.00000824●●●●●●
44. 23874539 c.395_396insTAC p.Pro132_Val133insThr inframe 0.00001648●●●●●●
45. 23874530 c.404A>G p.N135S missense 0.00002471●●●●●●
46. 23874525 c.409G>A p.E137K missense 0.00007414●●●●●●
47. 23874521 c.413T>C p.V138A missense 0.00000824●●●●●●
48. 23874515 c.419C>A p.A140D missense 0.00001647●●●●●●
49. 23874513 c.421G>A p.A141T missense 0.00001647●●●●●●
50. 23874510 c.424T>C p.Y142H missense 0.00000824●●●●●●
51. 23874507 c.427C>G p.R143G missense 0.00001647●●●●●●
52. 23874507 c.427C>T p.R143W missense 0.00000824●●●●●●
53. 23874503 c.431G>T p.G144V missense 0.00009884●●●●●●
54. 23874494 c.440G>A p.R147K missense 0.00000824●●●●●●
55. 23874488 c.446A>T p.E149V missense 0.00000824●●●●●●
56. 23874459 c.475G>A p.D159N missense 0.00004118●●●●●●
57. 23874453 c.481G>A p.A161T missense 0.00002471●●●●●●
58. 23874449 c.485A>G p.Y162C missense 0.00001647●●●●●●
59. 23874432 c.502G>A p.D168N missense 0.00000824●●●●●●
60. 23874018 c.544G>A p.A182T missense 0.00000824●●●●●●
61. 23873994 c.568C>T p.R190C missense 0.00001647●●●●●●
62. 23873979 c.583T>C p.F195L missense 0.00000824●●●●●●
63. 23873972 c.590G>A p.S197N missense 0.00000824●●●●●●
64. 23873952 c.610C>T p.R204C missense 0.00000824●●●●●●
65. 23873937 c.625A>G p.N209D missense 0.00000824●●●●●●
66. 23873927 c.635C>T p.A212V missense 0.00002473●●●●●●
67. 23873920 c.642G>T p.K214N missense 0.00000825●●●●●●
68. 23873585 c.655G>T p.D219Y missense 0.00000824●●●●●●
69. 23873564 c.676C>T p.P226S missense 0.00001647●●●●●●
70. 23873561 c.679G>A p.A227T missense 0.00002471●●●●●●
71. 23873549 c.691T>C p.F231L missense 0.00001647●●●●●●
72. 23873546 c.694G>A p.G232S missense 0.00000824●●●●●●
73. 23873528 c.712C>T p.R238W missense 0.00002471●●●●●●
74. 23873527 c.713G>A p.R238Q missense 0.00001647●●●●●●
75. 23873522 c.718G>A p.D240N missense 0.00000824●●●●●●
76. 23873510 c.730C>T p.R244C missense 0.00000824●●●●●●
77. 23873509 c.731G>A p.R244H missense 0.00000824●●●●●●
78. 23873506 c.734T>C p.F245S missense 0.00001647●●●●●●
79. 23872978 c.745A>G p.I249V missense 0.00001103●●●●●●
80. 23872977 c.746T>C p.I249T missense 0.00002200●●●●●●
81. 23872967 c.756C>G p.H252Q missense 0.00004259●●●●●●
82. 23872938 c.785C>T p.A262V missense 0.00001038●●●●●●
83. 23872933 c.790A>T p.I264L missense 0.00001041●●●●●●
84. 23872640 c.815C>T p.S272F missense 0.00000824●●●●●●
85. 23872617 c.838G>T p.A280S missense 0.00000824●●●●●●
86. 23872576 c.879C>G p.N293K missense 0.00000824●●●●●●
87. 23872573 c.882G>C p.K294N missense 0.00000824●●●●●●
88. 23872568 c.887C>T p.P296L missense 0.00000824●●●●●●
89. 23871997 c.911T>C p.V304A missense 0.00000835●●●●●●
90. 23871980 c.928G>A p.D310N missense 0.00000830●●●●●●
91. 23871974 c.934G>A p.A312T missense 0.00000829●●●●●●
92. 23871971 c.937T>G p.F313V missense 0.00000828●●●●●●
93. 23871967 c.941T>C p.V314A missense 0.00002482●●●●●●
94. 23871947 c.961G>A p.V321M missense 0.00002477●●●●●●
95. 23871943 c.965C>G p.A322G missense 0.00000826●●●●●●
96. 23871932 c.976G>A p.D326N missense 0.00002476●●●●●●
97. 23871932 c.976G>T p.D326Y missense 0.00000825●●●●●●
98. 23871926 c.982G>A p.E328K missense 0.00005778●●●●●●
99. 23871914 c.994G>A p.A332T missense 0.00000826●●●●●●
100. 23871908 c.1000G>A p.D334N missense 0.00001652●●●●●●
101. 23871906 c.1002T>A p.D334E missense 0.00001652●●●●●●
102. 23871807 c.1007C>G p.A336G missense 0.00007421●●●●●●
103. 23871807 c.1007C>A p.A336D missense 0.00001649●●●●●●
104. 23871800 c.1014C>A p.D338E missense 0.00000824●●●●●●
105. 23871799 c.1015G>A p.V339M missense 0.00002473●●●●●●
106. 23871768 c.1046G>A p.G349D missense 0.00000824●●●●●●
107. 23871766 c.1048G>A p.V350I missense 0.00004943●●●●●●
108. 23871753 c.1061C>T p.T354M missense 0.00000824●●●●●●
109. 23871742 c.1072A>G p.M358V missense 0.00001648●●●●●●
110. 23871726 c.1088T>C p.M363T missense 0.00002471●●●●●●
111. 23871706 c.1108C>T p.R370W missense 0.00003296●●●●●●
112. 23871689 c.1125G>T p.E375D missense 0.00000824●●●●●●
113. 23871685 c.1129G>C p.D377H missense 0.00000824●●●●●●
114. 23871675 c.1139A>C p.E380A missense 0.00003298●●●●●●
115. 23870178 c.1150A>G p.K384E missense 0.00000827●●●●●●
116. 23870172 c.1156G>A p.A386T missense 0.00002477●●●●●●
117. 23870162 c.1166T>C p.M389T missense 0.00001649●●●●●●
118. 23870151 c.1177T>G p.S393A missense 0.00001648●●●●●●
119. 23870143 c.1185C>G p.D395E missense 0.00000824●●●●●●
120. 23870122 c.1206C>A p.H402Q missense 0.00000824●●●●●●
121. 23870084 c.1244G>C p.G415A missense 0.00006589●●●●●●
122. 23870079 c.1249A>G p.S417G missense 0.00001647●●●●●●
123. 23870067 c.1261G>A p.V421M missense 0.00006589●●●●●●
124. 23870052 c.1276G>A p.G426R missense 0.00000824●●●●●●
125. 23870033 c.1295T>C p.V432A missense 0.00000824●●●●●●
126. 23870027 c.1301A>C p.E434A missense 0.00000824●●●●●●
127. 23870021 c.1307T>C p.M436T missense 0.00000824●●●●●●
128. 23870007 c.1321G>A p.V441M missense 0.00000824●●●●●●
129. 23870003 c.1325C>T p.T442M missense 0.00001647●●●●●●
130. 23870000 c.1328G>A p.R443H missense 0.00008237●●●●●●
131. 23869981 c.1347G>T p.E449D missense 0.00004942●●●●●●
132. 23869962 c.1366T>G p.Y456D missense 0.00000824●●●●●●
133. 23869956 c.1372A>G p.I458V missense 0.00000824●●●●●●
134. 23869955 c.1373T>C p.I458T missense 0.00001648●●●●●●
135. 23869929 c.1399G>A p.E467K missense 0.00001648●●●●●●
136. 23869920 c.1408G>A p.D470N missense 0.00001649●●●●●●
137. 23869920 c.1408G>T p.D470Y missense 0.00001649●●●●●●
138. 23869919 c.1409A>G p.D470G missense 0.00000824●●●●●●
139. 23869635 c.1411T>C p.F471L missense 0.00000828●●●●●●
140. 23869560 c.1486G>A p.V496M missense 0.00007413●●●●●●
141. 23869560 c.1486G>C p.V496L missense 0.00000824●●●●●●
142. 23869554 c.1492G>A p.E498K missense 0.00002471●●●●●●
143. 23869546 c.1500G>C p.E500D missense 0.00000824●●●●●●
144. 23869539 c.1507A>G p.K503E missense 0.00000824●●●●●●
145. 23869531 c.1515G>C p.E505D missense 0.00000824●●●●●●
146. 23869526 c.1520T>C p.I507T missense 0.00000824●●●●●●
147. 23869524 c.1522G>C p.E508Q missense 0.00000824●●●●●●
148. 23869511 c.1535T>C p.I512T missense 0.00001647●●●●●●
149. 23869499 c.1547T>C p.M516T missense 0.00000824●●●●●●
150. 23869484 c.1562G>A p.C521Y missense 0.00000824●●●●●●
151. 23869481 c.1565T>C p.I522T missense 0.00000824●●●●●●
152. 23869468 c.1578G>C p.E526D missense 0.00000824●●●●●●
153. 23868212 c.1616G>A p.C539Y missense 0.00000824●●●●●●
154. 23868200 c.1628A>G p.K543R missense 0.00004942●●●●●●
155. 23868190 c.1638C>A p.D546E missense 0.00000824●●●●●●
156. 23868189 c.1639A>G p.M547V missense 0.00001647●●●●●●
157. 23868178 c.1650G>C p.K550N missense 0.00000824●●●●●●
158. 23868176 c.1652C>T p.A551V missense 0.00000824●●●●●●
159. 23868126 c.1702C>T p.R568C missense 0.00002471●●●●●●
160. 23868125 c.1703G>A p.R568H missense 0.00003295●●●●●●
161. 23868101 c.1727C>T p.A576V missense 0.00000824●●●●●●
162. 23868090 c.1738C>A p.L580M missense 0.00000824●●●●●●
163. 23868087 c.1741A>G p.I581V missense 0.00000824●●●●●●
164. 23868078 c.1750G>A p.A584T missense 0.00000824●●●●●●
165. 23868065 c.1763A>G p.D588G missense 0.00000824●●●●●●
166. 23868045 c.1783C>G p.L595V missense 0.00000824●●●●●●
167. 23868044 c.1784T>A p.L595Q missense 0.00000824●●●●●●
168. 23868039 c.1789A>G p.K597E missense 0.00000824●●●●●●
169. 23868032 c.1796A>T p.K599M missense 0.00000824●●●●●●
170. 23868029 c.1799A>T p.D600V missense 0.00000824●●●●●●
171. 23868023 c.1805T>C p.L602P missense 0.00000824●●●●●●
172. 23868012 c.1816G>A p.V606I missense 0.00000824●●●●●●
173. 23868011 c.1817T>C p.V606A missense 0.00000824●●●●●●
174. 23868003 c.1825C>A p.L609M missense 0.00000824●●●●●●
175. 23867997 c.1831C>A p.Q611K missense 0.00000824●●●●●●
176. 23867996 c.1832A>T p.Q611L missense 0.00000824●●●●●●
177. 23867988 c.1840T>G p.S614A missense 0.00000824●●●●●●
178. 23867987 c.1841C>T p.S614F missense 0.00000824●●●●●●
179. 23867974 c.1854G>A p.M618I missense 0.00001647●●●●●●
180. 23867966 c.1862T>A p.L621H missense 0.00002471●●●●●●
181. 23867962 c.1866C>A p.F622L missense 0.00000824●●●●●●
182. 23867960 c.1868C>T p.S623F missense 0.00007413●●●●●●
183. 23867952 c.1876G>A p.A626T missense 0.00000824●●●●●●
184. 23867943 c.1885G>A p.D629N missense 0.00009885●●●●●●
185. 23867937 c.1891G>A p.G631R missense 0.00000824●●●●●●
186. 23866806 c.1908C>A p.S636R missense 0.00000825●●●●●●
187. 23866793 c.1921A>C p.K641Q missense 0.00000825●●●●●●
188. 23866783 c.1931C>T p.S644L missense 0.00001649●●●●●●
189. 23866780 c.1934C>T p.S645F missense 0.00002473●●●●●●
190. 23866768 c.1946T>C p.V649A missense 0.00001649●●●●●●
191. 23866765 c.1949C>T p.S650L missense 0.00000824●●●●●●
192. 23866762 c.1952C>T p.A651V missense 0.00000824●●●●●●
193. 23866754 c.1960C>T p.R654W missense 0.00000824●●●●●●
194. 23866753 c.1961G>A p.R654Q missense 0.00000824●●●●●●
195. 23866455 c.1974C>A p.N658K missense 0.00002472●●●●●●
196. 23866421 c.2008C>T p.H670Y missense 0.00001647●●●●●●
197. 23866417 c.2012T>G p.F671C missense 0.00000824●●●●●●
198. 23866402 c.2027T>A p.I676N missense 0.00000824●●●●●●
199. 23866396 c.2033A>G p.N678S missense 0.00000824●●●●●●
200. 23866390 c.2039G>A p.R680Q missense 0.00000824●●●●●●
201. 23866379 c.2050G>C p.G684R missense 0.00000824●●●●●●
202. 23866287 c.2053G>A p.V685M missense 0.00000824●●●●●●
203. 23866277 c.2063A>G p.N688S missense 0.00000824●●●●●●
204. 23866276 c.2064C>A p.N688K missense 0.00002471●●●●●●
205. 23866275 c.2065C>A p.P689T missense 0.00000824●●●●●●
206. 23866271 c.2069T>A p.L690Q missense 0.00000824●●●●●●
207. 23866254 c.2086C>T p.R696C missense 0.00001648●●●●●●
208. 23866253 c.2087G>A p.R696H missense 0.00006591●●●●●●
209. 23866242 c.2098G>A p.V700M missense 0.00003296●●●●●●
210. 23866227 c.2113C>T p.R705C missense 0.00008241●●●●●●
211. 23866224 c.2116A>T p.I706F missense 0.00000824●●●●●●
212. 23866223 c.2117T>A p.I706N missense 0.00000824●●●●●●
213. 23866221 c.2119T>C p.C707R missense 0.00001648●●●●●●
214. 23866200 c.2140C>T p.R714C missense 0.00000824●●●●●●
215. 23866199 c.2141G>A p.R714H missense 0.00000824●●●●●●
216. 23866197 c.2143A>G p.I715V missense 0.00001648●●●●●●
217. 23866185 c.2155G>A p.D719N missense 0.00001648●●●●●●
218. 23866178 c.2162G>A p.R721Q missense 0.00000824●●●●●●
219. 23866022 c.2173C>T p.R725C missense 0.00002471●●●●●●
220. 23866021 c.2174G>T p.R725L missense 0.00001647●●●●●●
221. 23866019 c.2176A>T p.I726F missense 0.00000824●●●●●●
222. 23866004 c.2191G>T p.A731S missense 0.00000824●●●●●●
223. 23865989 c.2206C>A p.Q736K missense 0.00005766●●●●●●
224. 23865982 c.2213T>C p.I738T missense 0.00000824●●●●●●
225. 23865973 c.2222G>A p.R741K missense 0.00000824●●●●●●
226. 23865937 c.2258T>C p.I753T missense 0.00003295●●●●●●
227. 23865927 c.2268C>A p.N756K missense 0.00000824●●●●●●
228. 23865922 c.2273A>G p.Y758C missense 0.00001647●●●●●●
229. 23865916 c.2279T>C p.F760S missense 0.00000824●●●●●●
230. 23865904 c.2291A>C p.K764T missense 0.00000824●●●●●●
231. 23865616 c.2306C>T p.A769V missense 0.00004998●●●●●●
232. 23865593 c.2329G>A p.E777K missense 0.00001656●●●●●●
233. 23865590 c.2332A>T p.M778L missense 0.00001655●●●●●●
234. 23865587 c.2335C>T p.R779W missense 0.00000827●●●●●●
235. 23865584 c.2338G>A p.D780N missense 0.00000826●●●●●●
236. 23865569 c.2353C>T p.R785C missense 0.00005780●●●●●●
237. 23865568 c.2354G>A p.R785H missense 0.00000826●●●●●●
238. 23865565 c.2357T>A p.I786N missense 0.00000825●●●●●●
239. 23865565 c.2357T>G p.I786S missense 0.00000825●●●●●●
240. 23865559 c.2363C>T p.T788M missense 0.00002476●●●●●●
241. 23865559 c.2363C>G p.T788R missense 0.00000825●●●●●●
242. 23865557 c.2365C>T p.R789C missense 0.00001651●●●●●●
243. 23865556 c.2366G>A p.R789H missense 0.00003301●●●●●●
244. 23865551 c.2371C>G p.Q791E missense 0.00000825●●●●●●
245. 23865539 c.2383C>T p.R795W missense 0.00007421●●●●●●
246. 23865538 c.2384G>A p.R795Q missense 0.00003298●●●●●●
247. 23865525 c.2397G>A p.M799I missense 0.00000824●●●●●●
248. 23865524 c.2398C>T p.R800C missense 0.00002473●●●●●●
249. 23865524 c.2398C>A p.R800S missense 0.00000824●●●●●●
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492. 23855627 c.4856_4858delAGA p.Lys1619del inframe 0.00000824●●●●●●
493. 23855612 c.4871T>C p.L1624P missense 0.00000824●●●●●●
494. 23855609 c.4874A>G p.N1625S missense 0.00002471●●●●●●
495. 23855583 c.4900G>A p.A1634T missense 0.00002471●●●●●●
496. 23855576 c.4907G>A p.R1636H missense 0.00000824●●●●●●
497. 23855568 c.4915G>A p.A1639T missense 0.00001648●●●●●●
498. 23855565 c.4918G>A p.E1640K missense 0.00000824●●●●●●
499. 23855534 c.4949G>A p.S1650N missense 0.00000824●●●●●●
500. 23855340 c.4960G>A p.D1654N missense 0.00000826●●●●●●
501. 23855331 c.4969A>G p.I1657V missense 0.00004125●●●●●●
502. 23855319 c.4981G>A p.D1661N missense 0.00000825●●●●●●
503. 23855315 c.4985C>T p.A1662V missense 0.00001649●●●●●●
504. 23855310 c.4990C>T p.R1664C missense 0.00002473●●●●●●
505. 23855309 c.4991G>A p.R1664H missense 0.00000824●●●●●●
506. 23855301 c.4999G>A p.D1667N missense 0.00004946●●●●●●
507. 23855298 c.5002G>A p.D1668N missense 0.00002473●●●●●●
508. 23855286 c.5014A>T p.N1672Y missense 0.00000824●●●●●●
509. 23855277 c.5023A>G p.I1675V missense 0.00001648●●●●●●
510. 23855274 c.5026G>A p.V1676M missense 0.00001648●●●●●●
511. 23855268 c.5032C>T p.R1678W missense 0.00002472●●●●●●
512. 23855267 c.5033G>A p.R1678Q missense 0.00002472●●●●●●
513. 23855264 c.5036G>A p.R1679H missense 0.00001648●●●●●●
514. 23855261 c.5039A>T p.N1680I missense 0.00000824●●●●●●
515. 23855229 c.5071C>T p.R1691C missense 0.00000824●●●●●●
516. 23855205 c.5095C>T p.R1699W missense 0.00005771●●●●●●
517. 23855204 c.5096G>A p.R1699Q missense 0.00001649●●●●●●
518. 23855201 c.5099C>A p.S1700Y missense 0.00000825●●●●●●
519. 23855199 c.5101C>T p.R1701W missense 0.00004948●●●●●●
520. 23855198 c.5102G>A p.R1701Q missense 0.00002474●●●●●●
521. 23855189 c.5111C>T p.A1704V missense 0.00000825●●●●●●
522. 23855174 c.5126T>C p.I1709T missense 0.00000825●●●●●●
523. 23855165 c.5135G>T p.S1712I missense 0.00001651●●●●●●
524. 23855163 c.5137G>A p.E1713K missense 0.00003304●●●●●●
525. 23855160 c.5140C>T p.R1714W missense 0.00000826●●●●●●
526. 23855159 c.5141G>A p.R1714Q missense 0.00002480●●●●●●
527. 23855153 c.5147A>G p.Q1716R missense 0.00000827●●●●●●
528. 23855144 c.5156A>G p.H1719R missense 0.00000828●●●●●●
529. 23854231 c.5183A>G p.Q1728R missense 0.00000824●●●●●●
530. 23854225 c.5189A>G p.K1730R missense 0.00000824●●●●●●
531. 23854222 c.5192A>T p.K1731M missense 0.00000824●●●●●●
532. 23854222 c.5192A>C p.K1731T missense 0.00000824●●●●●●
533. 23854211 c.5203G>A p.D1735N missense 0.00000824●●●●●●
534. 23854158 c.5256C>G p.N1752K missense 0.00000824●●●●●●
535. 23854157 c.5257G>C p.A1753P missense 0.00000824●●●●●●
536. 23854154 c.5260G>C p.E1754Q missense 0.00000824●●●●●●
537. 23854154 c.5260G>A p.E1754K missense 0.00002471●●●●●●
538. 23854147 c.5267A>G p.K1756R missense 0.00000824●●●●●●
539. 23854136 c.5278G>A p.A1760T missense 0.00003295●●●●●●
540. 23853923 c.5293G>A p.A1765T missense 0.00008245●●●●●●
541. 23853919 c.5297T>C p.M1766T missense 0.00000824●●●●●●
542. 23853898 c.5318A>T p.K1773M missense 0.00001648●●●●●●
543. 23853895 c.5321A>G p.E1774G missense 0.00000824●●●●●●
544. 23853881 c.5335G>T p.A1779S missense 0.00000824●●●●●●
545. 23853880 c.5336C>A p.A1779D missense 0.00003295●●●●●●
546. 23853875 c.5341C>A p.L1781M missense 0.00000824●●●●●●
547. 23853872 c.5344G>C p.E1782Q missense 0.00000824●●●●●●
548. 23853868 c.5348G>A p.R1783H missense 0.00005766●●●●●●
549. 23853866 c.5350A>G p.M1784V missense 0.00001647●●●●●●
550. 23853865 c.5351T>A p.M1784K missense 0.00000824●●●●●●
551. 23853841 c.5375T>C p.I1792T missense 0.00000824●●●●●●
552. 23853827 c.5389C>G p.H1797D missense 0.00000824●●●●●●
553. 23853824 c.5392C>T p.R1798W missense 0.00000824●●●●●●
554. 23853823 c.5393G>A p.R1798Q missense 0.00000824●●●●●●
555. 23853815 c.5401G>A p.E1801K missense 0.00000824●●●●●●
556. 23853812 c.5404G>A p.A1802T missense 0.00000824●●●●●●
557. 23853809 c.5407G>C p.E1803Q missense 0.00000824●●●●●●
558. 23853800 c.5416G>A p.A1806T missense 0.00002471●●●●●●
559. 23853788 c.5428G>A p.G1810S missense 0.00000824●●●●●●
560. 23853762 c.5454A>T p.E1818D missense 0.00000824●●●●●●
561. 23853758 c.5458C>T p.R1820W missense 0.00006590●●●●●●
562. 23853757 c.5459G>A p.R1820Q missense 0.00008238●●●●●●
563. 23853752 c.5464C>G p.R1822G missense 0.00000824●●●●●●
564. 23853742 c.5474A>T p.E1825V missense 0.00000824●●●●●●
565. 23853741 c.5475G>C p.E1825D missense 0.00001648●●●●●●
566. 23853735 c.5481G>C p.E1827D missense 0.00000824●●●●●●
567. 23853731 c.5485G>C p.E1829Q missense 0.00004945●●●●●●
568. 23853715 c.5501G>A p.R1834H missense 0.00003297●●●●●●
569. 23853710 c.5506G>A p.A1836T missense 0.00003297●●●●●●
570. 23853703 c.5513C>T p.S1838L missense 0.00004122●●●●●●
571. 23853701 c.5515G>T p.V1839L missense 0.00000824●●●●●●
572. 23853697 c.5519A>G p.K1840R missense 0.00008245●●●●●●
573. 23853695 c.5521G>A p.G1841S missense 0.00000824●●●●●●
574. 23853694 c.5522G>A p.G1841D missense 0.00000824●●●●●●
575. 23853692 c.5524A>G p.M1842V missense 0.00000824●●●●●●
576. 23853682 c.5534G>T p.S1845I missense 0.00000825●●●●●●
577. 23853676 c.5540G>A p.R1847Q missense 0.00006599●●●●●●
578. 23853674 c.5542C>T p.R1848C missense 0.00001650●●●●●●
579. 23853656 c.5560T>C p.Y1854H missense 0.00000826●●●●●●
580. 23852509 c.5586C>G p.N1862K missense 0.00000828●●●●●●
581. 23852502 c.5593C>T p.R1865W missense 0.00002475●●●●●●
582. 23852501 c.5594G>A p.R1865Q missense 0.00005774●●●●●●
583. 23852489 c.5606T>C p.L1869P missense 0.00000824●●●●●●
584. 23852468 c.5627A>G p.K1876R missense 0.00008241●●●●●●
585. 23852453 c.5642A>G p.K1881R missense 0.00004120●●●●●●
586. 23852451 c.5644C>T p.R1882C missense 0.00001648●●●●●●
587. 23852450 c.5645G>T p.R1882L missense 0.00000824●●●●●●
588. 23852442 c.5653G>A p.E1885K missense 0.00001648●●●●●●
589. 23852439 c.5656G>A p.E1886K missense 0.00002472●●●●●●
590. 23852435 c.5660C>T p.A1887V missense 0.00001648●●●●●●
591. 23851770 c.5663A>C p.E1888A missense 0.00000824●●●●●●
592. 23851768 c.5665G>A p.E1889K missense 0.00000824●●●●●●
593. 23851743 c.5690A>G p.K1897R missense 0.00004118●●●●●●
594. 23851741 c.5692T>C p.F1898L missense 0.00009060●●●●●●
595. 23851739 c.5694C>G p.F1898L missense 0.00003295●●●●●●
596. 23851738 c.5695C>T p.R1899C missense 0.00003295●●●●●●
597. 23851727 c.5706G>T p.Q1902H missense 0.00002471●●●●●●
598. 23851726 c.5707C>A p.H1903N missense 0.00000824●●●●●●
599. 23851702 c.5731C>T p.R1911W missense 0.00002471●●●●●●
600. 23851698 c.5735C>T p.A1912V missense 0.00001647●●●●●●
601. 23851690 c.5743G>A p.A1915T missense 0.00000824●●●●●●
602. 23851680 c.5753A>T p.Q1918L missense 0.00000824●●●●●●
603. 23851665 c.5768G>A p.R1923Q missense 0.00000824●●●●●●
604. 23851653 c.5780G>T p.R1927L missense 0.00000824●●●●●●
605. 23851653 c.5780G>A p.R1927H missense 0.00001647●●●●●●
606. 23851645 c.5788G>C p.G1930R missense 0.00000824●●●●●●
607. 23851644 c.5789G>A p.G1930D missense 0.00000824●●●●●●
608. 23851264 c.5805G>T p.M1935I missense 0.00001647●●●●●●

* 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.