MYH7 variants in ExAC

MYH7 gene summary
MYH7 variants in HCM, DCM

The table below lists the MYH7 variants found in the ExAC population database. 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. 23902949 c.-8G>A splice site 0.00000832●●●●●●
2. 23902931 c.11C>T p.S4L missense 0.00001656●●●●●●
3. 23902925 c.17T>C p.M6T missense 0.00002482●●●●●●
4. 23902920 c.22G>A p.V8I missense 0.00000827●●●●●●
5. 23902920 c.22G>C p.V8L missense 0.00000827●●●●●●
6. 23902914 c.28G>C p.G10R missense 0.00007434●●●●●●
7. 23902901 c.41C>T p.P14L missense 0.00000825●●●●●●
8. 23902888 c.54G>C p.K18N missense 0.00000825●●●●●●
9. 23902888 c.54delG p.Lys18AsnfsTer7 frameshift 0.00000824●●●●●●
10. 23902875 c.67C>T p.R23W missense 0.00002473●●●●●●
11. 23902866 c.76G>A p.A26T missense 0.00000824●●●●●●
12. 23902865 c.77C>T p.A26V missense 0.00056870●●●●●●
13. 23902851 c.91T>C p.F31L missense 0.00000824●●●●●●
14. 23902827 c.115G>A p.V39M missense 0.00005768●●●●●●
15. 23902818 c.124G>A p.D42N missense 0.00000824●●●●●●
16. 23902804 c.138T>A p.F46L missense 0.00000824●●●●●●
17. 23902782 c.160C>G p.R54G missense 0.00000824●●●●●●
18. 23902781 c.161G>T p.R54L missense 0.00000824●●●●●●
19. 23902781 c.161G>A p.R54Q missense 0.00001649●●●●●●
20. 23902776 c.166G>A p.G56S missense 0.00000824●●●●●●
21. 23902767 c.175G>A p.V59I missense 0.00000824●●●●●●
22. 23902767 c.175G>T p.V59F missense 0.00000824●●●●●●
23. 23902758 c.184G>A p.E62K missense 0.00000824●●●●●●
24. 23902737 c.201+4G>T splice site 0.00000826●●●●●●
25. 23902430 c.208A>T p.T70S missense 0.00000824●●●●●●
26. 23902427 c.211G>A p.V71M missense 0.00004119●●●●●●
27. 23902385 c.253G>C p.D85H missense 0.00001647●●●●●●
28. 23902379 c.259delA p.Ile87SerfsTer7 frameshift 0.00000824●●●●●●
29. 23902370 c.268A>G p.M90V missense 0.00001647●●●●●●
30. 23902340 c.298G>A p.A100T missense 0.00001647●●●●●●
31. 23902340 c.298G>T p.A100S missense 0.00000824●●●●●●
32. 23902310 c.328G>A p.G110S missense 0.00002472●●●●●●
33. 23902303 c.335G>A p.W112X nonsense 0.00000824●●●●●●
34. 23902298 c.340A>T p.I114F missense 0.00000824●●●●●●
35. 23902297 c.341T>C p.I114T missense 0.00000824●●●●●●
36. 23902295 c.343T>C p.Y115H missense 0.00000824●●●●●●
37. 23902293 c.345C>T p.Y115Y splice site 0.00005769●●●●●●
38. 23902292 c.345+1G>A essential splice site 0.00002473●●●●●●
39. 23902287 c.345+6T>G splice site 0.00000824●●●●●●
40. 23902000 c.350A>T p.Y117F missense 0.00004127●●●●●●
41. 23901953 c.397G>A p.V133M missense 0.00000825●●●●●●
42. 23901923 c.427C>T p.R143W missense 0.00004942●●●●●●
43. 23901922 c.428G>A p.R143Q missense 0.00000824●●●●●●
44. 23901908 c.442A>G p.S148G missense 0.00001647●●●●●●
45. 23901907 c.443G>T p.S148I missense 0.00000824●●●●●●
46. 23901905 c.445G>A p.E149K missense 0.00000824●●●●●●
47. 23901885 c.465C>A p.F155L missense 0.00000824●●●●●●
48. 23901869 c.481G>A p.A161T missense 0.00002471●●●●●●
49. 23901850 c.500C>G p.T167R missense 0.00000824●●●●●●
50. 23901842 c.502+6A>G splice site 0.00005765●●●●●●
51. 23901717 c.503-2A>T essential splice site 0.00000824●●●●●●
52. 23901688 c.530C>T p.T177I missense 0.00001647●●●●●●
53. 23901686 c.530+2dupT splice site 0.00000824●●●●●●
54. 23901683 c.530+5G>A splice site 0.00000824●●●●●●
55. 23901682 c.530+6T>C splice site 0.00002471●●●●●●
56. 23901679 c.530+9A>T splice site 0.00005765●●●●●●
57. 23901083 c.531-5C>T splice site 0.00000824●●●●●●
58. 23901078 c.531C>T p.T177T splice site 0.00001648●●●●●●
59. 23901068 c.541G>A p.G181R missense 0.00000824●●●●●●
60. 23901044 c.565A>C p.K189Q missense 0.00000824●●●●●●
61. 23901020 c.589G>A p.V197I missense 0.00001647●●●●●●
62. 23901008 c.601A>T p.I201F missense 0.00001647●●●●●●
63. 23900999 c.610C>T p.R204C missense 0.00002471●●●●●●
64. 23900977 c.632C>T p.P211L missense 0.00002471●●●●●●
65. 23900965 c.639+5G>T splice site 0.00000824●●●●●●
66. 23900886 c.640G>A p.G214S missense 0.00000824●●●●●●
67. 23900868 c.658A>G p.I220V missense 0.00001647●●●●●●
68. 23900820 c.706G>A p.V236I missense 0.00000824●●●●●●
69. 23900817 c.709C>T p.R237W missense 0.00000824●●●●●●
70. 23900798 c.728G>A p.R243H missense 0.00000824●●●●●●
71. 23900794 c.732C>T p.F244F splice site 0.18364523●●●●●●
72. 23900698 c.733-8C>T splice site 0.00000824●●●●●●
73. 23900696 c.733-6C>T splice site 0.00000824●●●●●●
74. 23900693 c.733-3C>T splice site 0.00007413●●●●●●
75. 23900691 c.733-1G>A essential splice site 0.00000824●●●●●●
76. 23900672 c.751C>T p.H251Y missense 0.00000824●●●●●●
77. 23900620 c.796+7G>A splice site 0.00009884●●●●●●
78. 23900216 c.797-8G>T splice site 0.00000828●●●●●●
79. 23900184 c.821T>C p.I274T missense 0.00000825●●●●●●
80. 23900152 c.853A>G p.I285V missense 0.00000824●●●●●●
81. 23900130 c.875A>C p.N292T missense 0.00000824●●●●●●
82. 23900111 c.894G>A p.L298L splice site 0.00001648●●●●●●
83. 23900105 c.895+5G>A splice site 0.00000824●●●●●●
84. 23899880 c.896-8delT splice site 0.00001669●●●●●●
85. 23899877 c.896-5C>T splice site 0.00001666●●●●●●
86. 23899875 c.896-3T>C splice site 0.00001665●●●●●●
87. 23899870 c.898A>T p.M300L missense 0.00000831●●●●●●
88. 23899858 c.910A>T p.T304S missense 0.00000829●●●●●●
89. 23899855 c.913A>C p.N305H missense 0.00000829●●●●●●
90. 23899852 c.916A>G p.N306D missense 0.00000829●●●●●●
91. 23899843 c.925G>A p.D309N missense 0.00002486●●●●●●
92. 23899834 c.934T>C p.F312L missense 0.00000829●●●●●●
93. 23899832 c.936C>A p.F312L missense 0.00000829●●●●●●
94. 23899819 c.949G>C p.E317Q missense 0.00000832●●●●●●
95. 23899810 c.958G>A p.V320M missense 0.00000835●●●●●●
96. 23899800 c.968T>C p.I323T missense 0.00007549●●●●●●
97. 23899800 c.968T>G p.I323S missense 0.00000839●●●●●●
98. 23899792 c.976G>C p.A326P missense 0.00006783●●●●●●
99. 23899129 c.1000-7C>T splice site 0.00007425●●●●●●
100. 23899120 c.1002C>T p.N334N splice site 0.00426209●●●●●●
101. 23899104 c.1018G>A p.G340S missense 0.00000824●●●●●●
102. 23899089 c.1033G>A p.E345K missense 0.00000824●●●●●●
103. 23899077 c.1045A>G p.M349V missense 0.00002471●●●●●●
104. 23899036 c.1086G>T p.M362I missense 0.00000824●●●●●●
105. 23899027 c.1095G>T p.K365N missense 0.00000824●●●●●●
106. 23898996 c.1126G>C p.D376H missense 0.00000824●●●●●●
107. 23898994 c.1128C>A p.D376E missense 0.00000824●●●●●●
108. 23898993 c.1129G>A p.G377S missense 0.00002471●●●●●●
109. 23898465 c.1230C>A p.Y410X nonsense 0.00000824●●●●●●
110. 23898464 c.1231G>A p.V411I missense 0.00000824●●●●●●
111. 23898449 c.1246A>C p.N416H missense 0.00001647●●●●●●
112. 23898431 c.1257+7C>A splice site 0.00000824●●●●●●
113. 23898310 c.1261A>G p.I421V missense 0.00010707●●●●●●
114. 23898309 c.1262T>C p.I421T missense 0.00000824●●●●●●
115. 23898256 c.1315A>T p.M439L missense 0.00001647●●●●●●
116. 23898249 c.1322C>T p.T441M missense 0.00013179●●●●●●
117. 23898247 c.1324C>T p.R442C missense 0.00000824●●●●●●
118. 23898246 c.1325G>A p.R442H missense 0.00001647●●●●●●
119. 23898237 c.1334C>T p.A445V missense 0.00001647●●●●●●
120. 23898201 c.1370T>C p.I457T missense 0.00000824●●●●●●
121. 23898166 c.1405G>A p.D469N missense 0.00000824●●●●●●
122. 23898164 c.1407T>C p.D469D splice site 0.00003297●●●●●●
123. 23898160 c.1407+4A>C splice site 0.00013189●●●●●●
124. 23897840 c.1447G>A p.E483K missense 0.00000824●●●●●●
125. 23897768 c.1519G>A p.E507K missense 0.00000824●●●●●●
126. 23897705 c.1578+4C>A splice site 0.00000824●●●●●●
127. 23897110 c.1579-7T>C splice site 0.00000824●●●●●●
128. 23897094 c.1588A>G p.I530V missense 0.00000824●●●●●●
129. 23897081 c.1601T>C p.L534P missense 0.00000824●●●●●●
130. 23897071 c.1611G>C p.E537D missense 0.00001647●●●●●●
131. 23897052 c.1630A>G p.T544A missense 0.00001647●●●●●●
132. 23897020 c.1662C>A p.D554E missense 0.00000824●●●●●●
133. 23897001 c.1681G>A p.A561T missense 0.00004118●●●●●●
134. 23897001 c.1681G>T p.A561S missense 0.00000824●●●●●●
135. 23896983 c.1699C>T p.R567C missense 0.00000824●●●●●●
136. 23896982 c.1700G>A p.R567H missense 0.00001647●●●●●●
137. 23896980 c.1702A>G p.N568D missense 0.00000824●●●●●●
138. 23896973 c.1709A>G p.K570R missense 0.00001647●●●●●●
139. 23896955 c.1727A>G p.H576R missense 0.00000824●●●●●●
140. 23896953 c.1729T>C p.F577L missense 0.00000824●●●●●●
141. 23896952 c.1730T>C p.F577S missense 0.00000824●●●●●●
142. 23896928 c.1754T>C p.I585T missense 0.00000824●●●●●●
143. 23896926 c.1756G>A p.V586M missense 0.00000824●●●●●●
144. 23896916 c.1766A>G p.N589S missense 0.00000824●●●●●●
145. 23896910 c.1772T>C p.I591T missense 0.00000824●●●●●●
146. 23896894 c.1788G>C p.K596N missense 0.00000824●●●●●●
147. 23896826 c.1856C>T p.T619I missense 0.00003302●●●●●●
148. 23896823 c.1859T>A p.L620Q missense 0.00000826●●●●●●
149. 23896795 c.1887G>A p.A629A splice site 0.00005909●●●●●●
150. 23896795 c.1887G>T splice site 0.00000844●●●●●●
151. 23896794 c.1888C>T p.P630S missense 0.00001691●●●●●●
152. 23896793 c.1888+1G>A essential splice site 0.00000848●●●●●●
153. 23896786 c.1888+8G>T splice site 0.00003435●●●●●●
154. 23896523 c.1889-7C>T splice site 0.00000828●●●●●●
155. 23896520 c.1889-4G>A splice site 0.00000827●●●●●●
156. 23896513 c.1892T>C p.I631T missense 0.00001654●●●●●●
157. 23896511 c.1894G>T p.E632X nonsense 0.00000827●●●●●●
158. 23896509 c.1896G>T p.E632D missense 0.00000827●●●●●●
159. 23896492 c.1913C>T p.A638V missense 0.00000827●●●●●●
160. 23896451 c.1954A>G p.R652G missense 0.00000829●●●●●●
161. 23896080 c.1957-7G>T splice site 0.00000832●●●●●●
162. 23896059 c.1971G>T p.K657N missense 0.00000825●●●●●●
163. 23896055 c.1975A>G p.M659V missense 0.00000825●●●●●●
164. 23896042 c.1988G>A p.R663H missense 0.00001648●●●●●●
165. 23896033 c.1997A>G p.H666R missense 0.00000824●●●●●●
166. 23895986 c.2044G>A p.G682R missense 0.00000825●●●●●●
167. 23895982 c.2044+4A>G splice site 0.00001650●●●●●●
168. 23895295 c.2045-5C>T splice site 0.00000851●●●●●●
169. 23895283 c.2052G>A p.M684I missense 0.00000840●●●●●●
170. 23895275 c.2060C>A p.P687H missense 0.00003343●●●●●●
171. 23895255 c.2080C>T p.R694C missense 0.00001659●●●●●●
172. 23895201 c.2134C>T p.R712C missense 0.00000824●●●●●●
173. 23895172 c.2162+1G>A essential splice site 0.00000824●●●●●●
174. 23895169 c.2162+4G>A splice site 0.00080736●●●●●●
175. 23895167 c.2162+6T>C splice site 0.00000824●●●●●●
176. 23895165 c.2162+8T>A splice site 0.00000824●●●●●●
177. 23895033 c.2163-6C>T splice site 0.00000824●●●●●●
178. 23895028 c.2163-1G>T essential splice site 0.00000824●●●●●●
179. 23895023 c.2167C>T p.R723C missense 0.00002471●●●●●●
180. 23895013 c.2177A>G p.N726S missense 0.00000824●●●●●●
181. 23894984 c.2206A>G p.I736V missense 0.00000824●●●●●●
182. 23894927 c.2263C>T p.Q755X nonsense 0.00000824●●●●●●
183. 23894897 c.2286+7A>G splice site 0.00001647●●●●●●
184. 23894602 c.2312G>C p.G771A missense 0.00000825●●●●●●
185. 23894567 c.2347C>T p.R783C missense 0.00000824●●●●●●
186. 23894566 c.2348G>A p.R783H missense 0.00001648●●●●●●
187. 23894557 c.2357C>T p.T786M missense 0.00001648●●●●●●
188. 23894555 c.2359C>T p.R787C missense 0.00005767●●●●●●
189. 23894554 c.2360G>A p.R787H missense 0.00022244●●●●●●
190. 23894543 c.2371C>A p.Q791K missense 0.00000824●●●●●●
191. 23894525 c.2389G>A p.A797T missense 0.00003296●●●●●●
192. 23894514 c.2400G>T p.E800D missense 0.00000824●●●●●●
193. 23894494 c.2420G>A p.R807H missense 0.00000824●●●●●●
194. 23894488 c.2423+3G>A splice site 0.00000824●●●●●●
195. 23894483 c.2423+8A>G splice site 0.00000824●●●●●●
196. 23894241 c.2424-8C>A splice site 0.00001651●●●●●●
197. 23894240 c.2424-7C>T splice site 0.00000825●●●●●●
198. 23894239 c.2424-6delC splice site 0.00000825●●●●●●
199. 23894236 c.2424-3C>T splice site 0.00000825●●●●●●
200. 23894232 c.2425G>T p.D809Y missense 0.00004950●●●●●●
201. 23894205 c.2452A>G p.I818V missense 0.00000824●●●●●●
202. 23894201 c.2456G>A p.R819Q missense 0.00000824●●●●●●
203. 23894187 c.2470delG p.Val824SerfsTer7 frameshift 0.00000824●●●●●●
204. 23894096 c.2561A>C p.E854A missense 0.00000824●●●●●●
205. 23894084 c.2573G>A p.R858H missense 0.00000824●●●●●●
206. 23894084 c.2573G>T p.R858L missense 0.00000824●●●●●●
207. 23894072 c.2585C>T p.A862V missense 0.00003295●●●●●●
208. 23894063 c.2594A>G p.K865R missense 0.00000824●●●●●●
209. 23894058 c.2599G>A p.E867K missense 0.00001648●●●●●●
210. 23894051 c.2606G>A p.R869H missense 0.00003295●●●●●●
211. 23894049 c.2608C>T p.R870C missense 0.00000824●●●●●●
212. 23894021 c.2636C>A p.S879Y missense 0.00001648●●●●●●
213. 23893992 c.2665C>T p.L889F missense 0.00000824●●●●●●
214. 23893980 c.2677G>A p.A893T missense 0.00000824●●●●●●
215. 23893978 c.2679G>A splice site 0.00000824●●●●●●
216. 23893971 c.2679+7C>T splice site 0.00003298●●●●●●
217. 23893360 c.2680-2A>G essential splice site 0.00000825●●●●●●
218. 23893357 c.2681A>T p.E894V missense 0.00000825●●●●●●
219. 23893349 c.2689A>C p.N897H missense 0.00000824●●●●●●
220. 23893328 c.2710C>T p.R904C missense 0.00000824●●●●●●
221. 23893289 c.2749G>A p.A917T missense 0.00000824●●●●●●
222. 23893277 c.2761G>T p.E921X nonsense 0.00000824●●●●●●
223. 23893276 c.2762A>C p.E921A missense 0.00000824●●●●●●
224. 23893273 c.2765T>C p.M922T missense 0.00001647●●●●●●
225. 23893272 c.2766G>T p.M922I missense 0.00000824●●●●●●
226. 23893262 c.2776C>G p.L926V missense 0.00001647●●●●●●
227. 23893251 c.2787G>C p.E929D missense 0.00001647●●●●●●
228. 23893234 c.2804A>T p.E935V missense 0.00001647●●●●●●
229. 23893226 c.2812G>T p.A938S missense 0.00000824●●●●●●
230. 23893217 c.2821C>A p.R941S missense 0.00000824●●●●●●
231. 23893216 c.2822G>A p.R941H missense 0.00001647●●●●●●
232. 23893192 c.2846A>T p.E949V missense 0.00000824●●●●●●
233. 23893148 c.2890G>C p.V964L missense 0.00042006●●●●●●
234. 23893147 c.2891T>C p.V964A missense 0.00000824●●●●●●
235. 23893116 c.2922G>A p.K974K splice site 0.00003295●●●●●●
236. 23893115 c.2922+1G>A essential splice site 0.00000824●●●●●●
237. 23893110 c.2922+6G>C splice site 0.00000824●●●●●●
238. 23892940 c.2923-8G>A splice site 0.00000824●●●●●●
239. 23892939 c.2923-7T>A splice site 0.00000824●●●●●●
240. 23892937 c.2923-5G>A splice site 0.00000824●●●●●●
241. 23892910 c.2945T>C p.M982T missense 0.00090601●●●●●●
242. 23892887 c.2968G>A p.A990T missense 0.00000824●●●●●●
243. 23892883 c.2972A>G p.K991R missense 0.00000824●●●●●●
244. 23892881 c.2974C>A p.L992M missense 0.00001647●●●●●●
245. 23892873 c.2982G>C p.K994N missense 0.00000824●●●●●●
246. 23892850 c.3005C>T p.A1002V missense 0.00000824●●●●●●
247. 23892845 c.3010C>G p.Q1004E missense 0.00000824●●●●●●
248. 23892827 c.3028C>T p.L1010F missense 0.00000824●●●●●●
249. 23892820 c.3035C>A p.A1012D missense 0.00004118●●●●●●
250. 23892818 c.3037G>A p.E1013K missense 0.00001647●●●●●●
251. 23892815 c.3040G>A p.E1014K missense 0.00000824●●●●●●
252. 23892809 c.3046A>G p.K1016E missense 0.00000824●●●●●●
253. 23892805 c.3050T>C p.V1017A missense 0.00000824●●●●●●
254. 23892799 c.3056C>A p.T1019N missense 0.00000824●●●●●●
255. 23892797 c.3058C>A p.L1020M missense 0.00001647●●●●●●
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502. 23884315 c.5448A>C p.E1816D missense 0.00000824●●●●●●
503. 23884311 c.5452C>T p.R1818W missense 0.00001648●●●●●●
504. 23884305 c.5458C>G p.R1820G missense 0.00002472●●●●●●
505. 23884305 c.5458C>T p.R1820W missense 0.00002472●●●●●●
506. 23884304 c.5459G>A p.R1820Q missense 0.00000824●●●●●●
507. 23884296 c.5467G>C p.E1823Q missense 0.00000824●●●●●●
508. 23884278 c.5485G>A p.E1829K missense 0.00002472●●●●●●
509. 23884269 c.5494C>T p.R1832C missense 0.00004946●●●●●●
510. 23884269 c.5494C>G p.R1832G missense 0.00000824●●●●●●
511. 23884268 c.5495G>A p.R1832H missense 0.00003297●●●●●●
512. 23884265 c.5498A>G p.N1833S missense 0.00000824●●●●●●
513. 23884263 c.5500G>A p.A1834T missense 0.00004947●●●●●●
514. 23884263 c.5500G>T p.A1834S missense 0.00001649●●●●●●
515. 23884260 c.5503G>C p.E1835Q missense 0.00000825●●●●●●
516. 23884259 c.5504_5505delAG p.E1835Vfs*70 frameshift 0.00000825●●●●●●
517. 23884256 c.5507C>T p.S1836L missense 0.00004949●●●●●●
518. 23884256 c.5507C>G p.S1836W missense 0.00001650●●●●●●
519. 23884233 c.5530G>A p.E1844K missense 0.00000826●●●●●●
520. 23884227 c.5536C>T p.R1846C missense 0.00001653●●●●●●
521. 23884226 c.5537G>A p.R1846H missense 0.00000826●●●●●●
522. 23884204 c.5559G>A splice site 0.00000827●●●●●●
523. 23884200 c.5559+4C>T splice site 0.00002484●●●●●●
524. 23884199 c.5559+5G>A splice site 0.00003312●●●●●●
525. 23884197 c.5559+7C>T splice site 0.00003312●●●●●●
526. 23884196 c.5559+8G>A splice site 0.00005798●●●●●●
527. 23884193 c.5559+11C>T splice site 0.00003314●●●●●●
528. 23883318 c.5560-7C>T splice site 0.00001653●●●●●●
529. 23883317 c.5560-6C>T splice site 0.00002479●●●●●●
530. 23883315 c.5560-4C>G splice site 0.00000826●●●●●●
531. 23883314 c.5560-3dupC splice site 0.00000826●●●●●●
532. 23883310 c.5561C>T p.T1854M missense 0.00003302●●●●●●
533. 23883309 c.5562G>A p.T1854T splice site 0.00006604●●●●●●
534. 23883284 c.5587C>T p.R1863W missense 0.00000824●●●●●●
535. 23883283 c.5588G>A p.R1863Q missense 0.00000824●●●●●●
536. 23883269 c.5602G>C p.V1868L missense 0.00000824●●●●●●
537. 23883265 c.5606A>G p.D1869G missense 0.00000824●●●●●●
538. 23883112 c.5656-10C>T splice site 0.00000824●●●●●●
539. 23883107 c.5656-5C>T splice site 0.00004118●●●●●●
540. 23883106 c.5656-4G>A splice site 0.00004118●●●●●●
541. 23883098 c.5660A>G p.E1887G missense 0.00000824●●●●●●
542. 23883071 c.5687T>C p.F1896S missense 0.00000824●●●●●●
543. 23883069 c.5689C>T p.R1897C missense 0.00001647●●●●●●
544. 23883062 c.5696T>C p.V1899A missense 0.00000824●●●●●●
545. 23883059 c.5699A>T p.Q1900L missense 0.00000824●●●●●●
546. 23883054 c.5704G>C p.E1902Q missense 0.00007413●●●●●●
547. 23883054 c.5704G>A p.E1902K missense 0.00001647●●●●●●
548. 23883033 c.5725C>T p.R1909W missense 0.00003295●●●●●●
549. 23883032 c.5726G>A p.R1909Q missense 0.00000824●●●●●●
550. 23883021 c.5737G>A p.A1913T missense 0.00000824●●●●●●
551. 23882997 c.5761C>T p.R1921W missense 0.00000824●●●●●●
552. 23882984 c.5774G>A p.R1925H missense 0.00000824●●●●●●
553. 23882979 c.5779A>T p.I1927F missense 0.00003297●●●●●●
554. 23882975 c.5783G>A p.G1928D missense 0.00000824●●●●●●
555. 23882972 c.5786C>T p.T1929M missense 0.00002474●●●●●●
556. 23882967 c.5790+1G>A essential splice site 0.00000825●●●●●●
557. 23882964 c.5790+4G>T splice site 0.00000825●●●●●●
558. 23882961 c.5790+7C>A splice site 0.00002477●●●●●●
559. 23882958 c.5790+10T>C splice site 0.00001652●●●●●●
560. 23882085 c.5791-5A>T splice site 0.00001654●●●●●●
561. 23882078 c.5793C>T p.G1931G splice site 0.00000827●●●●●●
562. 23882071 c.5800G>A p.E1934K missense 0.00002480●●●●●●
563. 0 c.-8-7A>T splice site 0.00000834●●●●●●

* 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.