MYOM1 missense variants in ExAC

MYOM1 gene summary
MYOM1 variants in

The table below lists the MYOM1 missense 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. 3215209 c.13T>C p.F5L missense 0.00002043●●●●●●
2. 3215205 c.17A>G p.Y6C missense 0.00001012●●●●●●
3. 3215196 c.26G>A p.C9Y missense 0.00001964●●●●●●
4. 3215194 c.28C>A p.H10N missense 0.00000974●●●●●●
5. 3215165 c.57C>G p.N19K missense 0.00001808●●●●●●
6. 3215162 c.60G>C p.K20N missense 0.00000898●●●●●●
7. 3215158 c.64G>C p.V22L missense 0.10696710●●●●●●
8. 3215158 c.64G>T p.V22L missense 0.00011465●●●●●●
9. 3215158 c.64G>A p.V22M missense 0.00006173●●●●●●
10. 3215157 c.65T>G p.V22G missense 0.00013143●●●●●●
11. 3215157 c.65T>C p.V22A missense 0.00000876●●●●●●
12. 3215154 c.68G>A p.R23H missense 0.00001746●●●●●●
13. 3215151 c.71G>A p.S24N missense 0.00000870●●●●●●
14. 3215140 c.82C>T p.H28Y missense 0.00000858●●●●●●
15. 3215139 c.83A>C p.H28P missense 0.00000858●●●●●●
16. 3215139 c.83A>G p.H28R missense 0.00000858●●●●●●
17. 3215112 c.110C>T p.A37V missense 0.00014359●●●●●●
18. 3215104 c.118A>G p.T40A missense 0.00000845●●●●●●
19. 3215098 c.124G>A p.G42S missense 0.00001686●●●●●●
20. 3215097 c.125G>T p.G42V missense 0.00004216●●●●●●
21. 3215089 c.133G>T p.A45S missense 0.00000845●●●●●●
22. 3215086 c.136T>C p.Y46H missense 0.00009297●●●●●●
23. 3215083 c.139A>G p.S47G missense 0.00537607●●●●●●
24. 3215077 c.145C>T p.R49C missense 0.00003393●●●●●●
25. 3215070 c.152C>A p.S51Y missense 0.00000848●●●●●●
26. 3215064 c.158C>T p.A53V missense 0.00006772●●●●●●
27. 3215059 c.163C>A p.R55S missense 0.00000847●●●●●●
28. 3215055 c.167G>A p.R56Q missense 0.00000849●●●●●●
29. 3215053 c.169G>C p.E57Q missense 0.00000848●●●●●●
30. 3215050 c.172T>C p.S58P missense 0.00000848●●●●●●
31. 3215038 c.184C>T p.R62C missense 0.00001700●●●●●●
32. 3215037 c.185G>A p.R62H missense 0.00001701●●●●●●
33. 3215037 c.185G>T p.R62L missense 0.00000850●●●●●●
34. 3215034 c.188G>T p.R63L missense 0.00000850●●●●●●
35. 3215026 c.196G>T p.A66S missense 0.00001701●●●●●●
36. 3215023 c.199T>G p.S67A missense 0.00003397●●●●●●
37. 3215022 c.200C>T p.S67F missense 0.00001698●●●●●●
38. 3215019 c.203C>A p.S68Y missense 0.00000849●●●●●●
39. 3215016 c.206C>G p.S69C missense 0.00000848●●●●●●
40. 3215011 c.211C>G p.Q71E missense 0.00000848●●●●●●
41. 3215004 c.218C>A p.A73D missense 0.00001696●●●●●●
42. 3214993 c.229G>A p.A77T missense 0.00000850●●●●●●
43. 3214971 c.251G>C p.R84P missense 0.00001725●●●●●●
44. 3214971 c.251G>A p.R84Q missense 0.00001725●●●●●●
45. 3214969 c.253A>C p.K85Q missense 0.00001729●●●●●●
46. 3214963 c.259G>A p.A87T missense 0.00000873●●●●●●
47. 3214959 c.263C>T p.S88L missense 0.00000877●●●●●●
48. 3214945 c.277G>A p.G93S missense 0.00000901●●●●●●
49. 3214941 c.281C>G p.S94C missense 0.00005437●●●●●●
50. 3214941 c.281C>T p.S94F missense 0.00004531●●●●●●
51. 3214933 c.289G>A p.G97R missense 0.00000922●●●●●●
52. 3214932 c.290G>T p.G97V missense 0.00213277●●●●●●
53. 3193952 c.295A>C p.T99P missense 0.00000866●●●●●●
54. 3193951 c.296C>A p.T99K missense 0.00001729●●●●●●
55. 3193948 c.299A>G p.D100G missense 0.00000863●●●●●●
56. 3193921 c.326C>T p.S109L missense 0.00000841●●●●●●
57. 3193918 c.329C>T p.S110F missense 0.00000840●●●●●●
58. 3193901 c.346C>G p.P116A missense 0.00001672●●●●●●
59. 3193898 c.349A>G p.K117E missense 0.00000835●●●●●●
60. 3193879 c.368T>C p.L123P missense 0.00001665●●●●●●
61. 3193870 c.377G>A p.G126E missense 0.00001663●●●●●●
62. 3193865 c.382G>C p.E128Q missense 0.00000831●●●●●●
63. 3193838 c.409A>C p.M137L missense 0.00000830●●●●●●
64. 3193835 c.412G>A p.V138I missense 0.00001661●●●●●●
65. 3193832 c.415C>T p.P139S missense 0.00000830●●●●●●
66. 3193817 c.430C>T p.R144C missense 0.00003329●●●●●●
67. 3193816 c.431G>A p.R144H missense 0.00015825●●●●●●
68. 3189081 c.436A>C p.K146Q missense 0.00000845●●●●●●
69. 3189078 c.439C>G p.H147D missense 0.00000844●●●●●●
70. 3189057 c.460A>G p.T154A missense 0.00000833●●●●●●
71. 3189056 c.461C>T p.T154M missense 0.00059117●●●●●●
72. 3189049 c.468A>T p.E156D missense 0.00000831●●●●●●
73. 3189044 c.473G>C p.R158T missense 0.00000830●●●●●●
74. 3189023 c.494A>G p.Y165C missense 0.00000828●●●●●●
75. 3189021 c.496A>G p.I166V missense 0.00001656●●●●●●
76. 3189020 c.497T>C p.I166T missense 0.00006625●●●●●●
77. 3189007 c.510T>A p.N170K missense 0.00000828●●●●●●
78. 3188997 c.520A>G p.S174G missense 0.00000828●●●●●●
79. 3188979 c.538A>G p.T180A missense 0.00005796●●●●●●
80. 3188978 c.539C>T p.T180I missense 0.00143240●●●●●●
81. 3188976 c.541T>C p.S181P missense 0.43735299●●●●●●
82. 3188963 c.554C>T p.T185M missense 0.00002484●●●●●●
83. 3188951 c.566A>T p.Q189L missense 0.00003312●●●●●●
84. 3188948 c.569C>T p.T190I missense 0.00000828●●●●●●
85. 3188945 c.572C>T p.T191M missense 0.00062949●●●●●●
86. 3188930 c.587C>T p.S196F missense 0.00000828●●●●●●
87. 3188927 c.590C>T p.T197M missense 0.00246032●●●●●●
88. 3188925 c.592G>A p.A198T missense 0.00000828●●●●●●
89. 3188907 c.610G>A p.A204T missense 0.00000828●●●●●●
90. 3188906 c.611C>A p.A204E missense 0.00002484●●●●●●
91. 3188906 c.611C>T p.A204V missense 0.00000828●●●●●●
92. 3188900 c.617A>G p.K206R missense 0.00004142●●●●●●
93. 3188891 c.626C>T p.T209M missense 0.00004969●●●●●●
94. 3188873 c.644C>T p.T215M missense 0.05654999●●●●●●
95. 3188868 c.649T>G p.S217A missense 0.00000830●●●●●●
96. 3188832 c.685G>A p.A229T missense 0.00004152●●●●●●
97. 3188820 c.697G>A p.E233K missense 0.00000834●●●●●●
98. 3188803 c.714G>T p.K238N missense 0.00000858●●●●●●
99. 3188790 c.727G>C p.V243L missense 0.00008162●●●●●●
100. 3188789 c.728T>C p.V243A missense 0.00000910●●●●●●
101. 3188778 c.739G>A p.E247K missense 0.00467073●●●●●●
102. 3187631 c.776A>G p.E259G missense 0.00001847●●●●●●
103. 3187623 c.784G>A p.E262K missense 0.00000879●●●●●●
104. 3187599 c.808G>A p.E270K missense 0.00004164●●●●●●
105. 3187595 c.812A>G p.D271G missense 0.00000831●●●●●●
106. 3187586 c.821T>A p.L274H missense 0.00001659●●●●●●
107. 3187586 c.821T>C p.L274P missense 0.00000829●●●●●●
108. 3187556 c.851G>A p.R284H missense 0.00003313●●●●●●
109. 3187547 c.860C>T p.T287M missense 0.00004969●●●●●●
110. 3187532 c.875A>G p.E292G missense 0.00000828●●●●●●
111. 3187519 c.888G>C p.L296F missense 0.00000828●●●●●●
112. 3187508 c.899T>C p.I300T missense 0.00000828●●●●●●
113. 3187500 c.907T>G p.W303G missense 0.00005798●●●●●●
114. 3187488 c.919C>T p.R307C missense 0.00004142●●●●●●
115. 3187487 c.920G>C p.R307P missense 0.00008285●●●●●●
116. 3187481 c.926C>T p.T309M missense 0.00003315●●●●●●
117. 3176111 c.951A>G p.I317M missense 0.00000847●●●●●●
118. 3176107 c.955G>A p.V319I missense 0.00012663●●●●●●
119. 3176103 c.959A>G p.H320R missense 0.00001681●●●●●●
120. 3176096 c.966C>A p.N322K missense 0.00000837●●●●●●
121. 3176094 c.968C>G p.P323R missense 0.00000837●●●●●●
122. 3176092 c.970G>C p.G324R missense 0.00010032●●●●●●
123. 3176085 c.977A>G p.Y326C missense 0.00000834●●●●●●
124. 3176079 c.983T>C p.I328T missense 0.00000834●●●●●●
125. 3176077 c.985G>A p.E329K missense 0.00000834●●●●●●
126. 3176070 c.992G>A p.R331Q missense 0.00035841●●●●●●
127. 3176070 c.992G>T p.R331L missense 0.00000834●●●●●●
128. 3176067 c.995A>G p.Y332C missense 0.00013334●●●●●●
129. 3176053 c.1009C>G p.L337V missense 0.00003329●●●●●●
130. 3176040 c.1022G>C p.G341A missense 0.73841187●●●●●●
131. 3176040 c.1022G>T p.G341V missense 0.00000839●●●●●●
132. 3174202 c.1027G>A p.D343N missense 0.00000830●●●●●●
133. 3174198 c.1031T>A p.F344Y missense 0.00000830●●●●●●
134. 3174193 c.1036G>A p.D346N missense 0.00000829●●●●●●
135. 3174180 c.1049A>C p.Y350S missense 0.00000829●●●●●●
136. 3174178 c.1051C>T p.R351W missense 0.00009116●●●●●●
137. 3174177 c.1052G>A p.R351Q missense 0.00006630●●●●●●
138. 3174171 c.1058C>T p.S353L missense 0.00006628●●●●●●
139. 3174162 c.1067A>G p.N356S missense 0.00004141●●●●●●
140. 3174151 c.1078G>A p.E360K missense 0.00000828●●●●●●
141. 3174144 c.1085C>T p.S362L missense 0.00000828●●●●●●
142. 3174142 c.1087G>C p.A363P missense 0.00000828●●●●●●
143. 3174133 c.1096T>G p.S366A missense 0.00003312●●●●●●
144. 3174119 c.1110A>C p.K370N missense 0.00000828●●●●●●
145. 3174118 c.1111A>G p.R371G missense 0.00002484●●●●●●
146. 3173993 c.1117A>G p.K373E missense 0.00000829●●●●●●
147. 3173987 c.1123G>A p.E375K missense 0.00000829●●●●●●
148. 3173972 c.1138C>T p.R380C missense 0.00010775●●●●●●
149. 3173971 c.1139G>C p.R380P missense 0.00000829●●●●●●
150. 3173965 c.1145A>G p.H382R missense 0.00001658●●●●●●
151. 3173963 c.1147G>A p.A383T missense 0.00000829●●●●●●
152. 3173957 c.1153G>T p.A385S missense 0.00001659●●●●●●
153. 3173950 c.1160C>T p.T387I missense 0.00082141●●●●●●
154. 3173942 c.1168C>T p.L390F missense 0.00003322●●●●●●
155. 3168968 c.1186C>T p.P396S missense 0.00010134●●●●●●
156. 3168964 c.1190A>G p.Y397C missense 0.00000988●●●●●●
157. 3168961 c.1193G>T p.G398V missense 0.00000970●●●●●●
158. 3168952 c.1202C>A p.S401Y missense 0.00000930●●●●●●
159. 3168950 c.1204C>T p.R402W missense 0.00011100●●●●●●
160. 3168949 c.1205G>A p.R402Q missense 0.00000921●●●●●●
161. 3168932 c.1222G>A p.D408N missense 0.00000878●●●●●●
162. 3168924 c.1230A>C p.K410N missense 0.00000866●●●●●●
163. 3168922 c.1232T>C p.F411S missense 0.00002590●●●●●●
164. 3168919 c.1235A>G p.D412G missense 0.00000862●●●●●●
165. 3168896 c.1258G>A p.E420K missense 0.00004224●●●●●●
166. 3168895 c.1259A>G p.E420G missense 0.00003379●●●●●●
167. 3168890 c.1264A>G p.M422V missense 0.00004200●●●●●●
168. 3168875 c.1279C>T p.R427C missense 0.00000836●●●●●●
169. 3168874 c.1280G>A p.R427H missense 0.00002504●●●●●●
170. 3168866 c.1288A>G p.I430V missense 0.00001666●●●●●●
171. 3168832 c.1322T>C p.I441T missense 0.00000830●●●●●●
172. 3168830 c.1324C>G p.Q442E missense 0.00000830●●●●●●
173. 3168820 c.1334G>T p.R445I missense 0.00013288●●●●●●
174. 3168815 c.1339G>A p.G447R missense 0.00000832●●●●●●
175. 3164434 c.1343T>G p.V448G missense 0.00017689●●●●●●
176. 3164419 c.1358C>T p.S453L missense 0.00003861●●●●●●
177. 3164407 c.1370A>G p.Q457R missense 0.00002389●●●●●●
178. 3164399 c.1378T>C p.W460R missense 0.00001162●●●●●●
179. 3164387 c.1390C>T p.R464W missense 0.00011186●●●●●●
180. 3164386 c.1391G>A p.R464Q missense 0.00006673●●●●●●
181. 3164381 c.1396A>C p.T466P missense 0.00001037●●●●●●
182. 3164380 c.1397C>T p.T466M missense 0.00023850●●●●●●
183. 3164339 c.1438T>C p.Y480H missense 0.00003960●●●●●●
184. 3164333 c.1444A>G p.I482V missense 0.00000983●●●●●●
185. 3164332 c.1445T>C p.I482T missense 0.00000982●●●●●●
186. 3164330 c.1447C>T p.R483C missense 0.00000984●●●●●●
187. 3164329 c.1448G>A p.R483H missense 0.00027463●●●●●●
188. 3164324 c.1453C>T p.R485W missense 0.00002936●●●●●●
189. 3164323 c.1454G>A p.R485Q missense 0.00002938●●●●●●
190. 3164323 c.1454G>T p.R485L missense 0.00002938●●●●●●
191. 3164317 c.1460G>C p.G487A missense 0.00000978●●●●●●
192. 3164311 c.1466A>G p.Y489C missense 0.00010732●●●●●●
193. 3164294 c.1483G>T p.A495S missense 0.00000986●●●●●●
194. 3164278 c.1499G>A p.R500Q missense 0.00001023●●●●●●
195. 3164276 c.1501G>A p.D501N missense 0.00005144●●●●●●
196. 3155074 c.1514A>C p.E505A missense 0.00000964●●●●●●
197. 3155065 c.1523G>A p.G508E missense 0.00001900●●●●●●
198. 3155063 c.1525G>A p.A509T missense 0.00000951●●●●●●
199. 3155042 c.1546G>T p.V516L missense 0.00000922●●●●●●
200. 3155042 c.1546G>A p.V516M missense 0.00000922●●●●●●
201. 3155020 c.1568A>G p.K523R missense 0.00002775●●●●●●
202. 3155014 c.1574A>G p.Y525C missense 0.00000932●●●●●●
203. 3155009 c.1579A>G p.I527V missense 0.00000937●●●●●●
204. 3155006 c.1582A>G p.I528V missense 0.00000942●●●●●●
205. 3154988 c.1600G>T p.A534S missense 0.00000977●●●●●●
206. 3154982 c.1606G>A p.D536N missense 0.00016015●●●●●●
207. 3154976 c.1612G>A p.G538R missense 0.00004077●●●●●●
208. 3154961 c.1627G>A p.G543R missense 0.00007556●●●●●●
209. 3154952 c.1636A>G p.I546V missense 0.00001121●●●●●●
210. 3154951 c.1637T>C p.I546T missense 0.00002248●●●●●●
211. 3151878 c.1657A>G p.T553A missense 0.00000830●●●●●●
212. 3151865 c.1670C>T p.S557L missense 0.00006634●●●●●●
213. 3151862 c.1673A>G p.Q558R missense 0.00000829●●●●●●
214. 3151856 c.1679A>G p.N560S missense 0.00000829●●●●●●
215. 3151837 c.1698T>G p.F566L missense 0.00002486●●●●●●
216. 3151832 c.1703G>A p.R568H missense 0.00002485●●●●●●
217. 3151821 c.1714A>G p.T572A missense 0.00001657●●●●●●
218. 3151809 c.1726G>A p.E576K missense 0.00001657●●●●●●
219. 3151808 c.1727A>T p.E576V missense 0.00000828●●●●●●
220. 3151803 c.1732C>T p.R578C missense 0.00000828●●●●●●
221. 3151802 c.1733G>T p.R578L missense 0.00009111●●●●●●
222. 3151802 c.1733G>A p.R578H missense 0.00014909●●●●●●
223. 3151799 c.1736C>T p.S579F missense 0.00014910●●●●●●
224. 3151787 c.1748G>C p.R583P missense 0.00002485●●●●●●
225. 3151784 c.1751T>C p.V584A missense 0.00000828●●●●●●
226. 3151781 c.1754G>C p.R585P missense 0.00000828●●●●●●
227. 3151778 c.1757C>T p.A586V missense 0.00000828●●●●●●
228. 3151766 c.1769T>C p.M590T missense 0.00000828●●●●●●
229. 3151751 c.1784C>T p.P595L missense 0.00000828●●●●●●
230. 3151737 c.1798G>A p.E600K missense 0.00002486●●●●●●
231. 3151736 c.1799A>T p.E600V missense 0.00496395●●●●●●
232. 3151722 c.1813C>G p.L605V missense 0.00022400●●●●●●
233. 3151715 c.1820C>T p.P607L missense 0.00000831●●●●●●
234. 3151712 c.1823C>G p.A608G missense 0.00000832●●●●●●
235. 3151698 c.1837C>T p.L613F missense 0.00000841●●●●●●
236. 3149197 c.1846C>G p.R616G missense 0.00000832●●●●●●
237. 3149196 c.1847G>A p.R616H missense 0.00006653●●●●●●
238. 3149196 c.1847G>T p.R616L missense 0.00000832●●●●●●
239. 3149194 c.1849C>G p.P617A missense 0.00001662●●●●●●
240. 3149185 c.1858C>T p.P620S missense 0.00000830●●●●●●
241. 3149172 c.1871A>G p.Q624R missense 0.00001658●●●●●●
242. 3149171 c.1872G>C p.Q624H missense 0.00000829●●●●●●
243. 3149157 c.1886A>G p.E629G missense 0.00000829●●●●●●
244. 3142058 c.1904G>T p.G635V missense 0.00004177●●●●●●
245. 3142056 c.1906A>G p.I636V missense 0.00000835●●●●●●
246. 3142050 c.1912C>T p.P638S missense 0.00000834●●●●●●
247. 3142043 c.1919C>T p.P640L missense 0.00000833●●●●●●
248. 3142040 c.1922C>T p.P641L missense 0.00002498●●●●●●
249. 3142034 c.1928A>G p.D643G missense 0.00000832●●●●●●
250. 3142029 c.1933T>A p.S645T missense 0.00001662●●●●●●
251. 3142028 c.1934C>G p.S645C missense 0.00000831●●●●●●
252. 3142010 c.1952G>A p.R651Q missense 0.00013282●●●●●●
253. 3142007 c.1955G>A p.S652N missense 0.00009961●●●●●●
254. 3141995 c.1967T>C p.L656P missense 0.00002490●●●●●●
255. 3141984 c.1978C>G p.P660A missense 0.00107079●●●●●●
256. 3141984 c.1978C>T p.P660S missense 0.00004150●●●●●●
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506. 3089535 c.4069G>A p.G1357S missense 0.00000862●●●●●●
507. 3089230 c.4079T>C p.F1360S missense 0.00000836●●●●●●
508. 3089225 c.4084G>A p.E1362K missense 0.00000835●●●●●●
509. 3089215 c.4094G>A p.S1365N missense 0.00000834●●●●●●
510. 3089195 c.4114T>G p.C1372G missense 0.00000834●●●●●●
511. 3089194 c.4115G>A p.C1372Y missense 0.00000834●●●●●●
512. 3089189 c.4120G>A p.V1374I missense 0.00010020●●●●●●
513. 3089188 c.4121T>C p.V1374A missense 0.00000835●●●●●●
514. 3089172 c.4137G>T p.K1379N missense 0.00000843●●●●●●
515. 3086139 c.4148T>C p.I1383T missense 0.00004199●●●●●●
516. 3086136 c.4151A>G p.K1384R missense 0.00001676●●●●●●
517. 3086124 c.4163A>T p.H1388L missense 0.00000833●●●●●●
518. 3086122 c.4165A>G p.I1389V missense 0.00001666●●●●●●
519. 3086121 c.4166T>A p.I1389N missense 0.00000833●●●●●●
520. 3086119 c.4168G>A p.V1390M missense 0.00000833●●●●●●
521. 3086110 c.4177A>G p.K1393E missense 0.00008310●●●●●●
522. 3086106 c.4181A>G p.D1394G missense 0.00004153●●●●●●
523. 3086080 c.4207A>C p.K1403Q missense 0.00000830●●●●●●
524. 3086078 c.4209G>C p.K1403N missense 0.00000830●●●●●●
525. 3086065 c.4222G>A p.D1408N missense 0.07286908●●●●●●
526. 3086044 c.4243A>G p.I1415V missense 0.00002510●●●●●●
527. 3086040 c.4247C>T p.T1416I missense 0.00000839●●●●●●
528. 3085129 c.4253T>G p.F1418C missense 0.00001450●●●●●●
529. 3085112 c.4270G>A p.G1424R missense 0.00001388●●●●●●
530. 3085111 c.4271G>A p.G1424E missense 0.00004144●●●●●●
531. 3085100 c.4282G>T p.V1428F missense 0.00001363●●●●●●
532. 3085081 c.4301G>A p.R1434Q missense 0.00002747●●●●●●
533. 3084008 c.4357A>T p.M1453L missense 0.00012608●●●●●●
534. 3084007 c.4358T>C p.M1453T missense 0.02947275●●●●●●
535. 3083996 c.4369A>C p.K1457Q missense 0.00002456●●●●●●
536. 3083989 c.4376T>A p.I1459K missense 0.00047114●●●●●●
537. 3083888 c.4383G>T p.L1461F missense 0.00008445●●●●●●
538. 3083881 c.4390A>C p.T1464P missense 0.00002809●●●●●●
539. 3083854 c.4417G>A p.E1473K missense 0.00017623●●●●●●
540. 3083850 c.4421G>A p.G1474D missense 0.00002966●●●●●●
541. 3083823 c.4448A>T p.Y1483F missense 0.00003320●●●●●●
542. 3083820 c.4451A>G p.Y1484C missense 0.00003382●●●●●●
543. 3083818 c.4453G>A p.V1485M missense 0.00003431●●●●●●
544. 3083815 c.4456G>A p.E1486K missense 0.00003513●●●●●●
545. 3083814 c.4457A>T p.E1486V missense 0.00003523●●●●●●
546. 3083803 c.4468G>A p.V1490I missense 0.00007550●●●●●●
547. 3079335 c.4490C>T p.S1497F missense 0.00000848●●●●●●
548. 3079333 c.4492G>A p.A1498T missense 0.00001688●●●●●●
549. 3079323 c.4502A>G p.Y1501C missense 0.00001674●●●●●●
550. 3079316 c.4509C>A p.D1503E missense 0.00000834●●●●●●
551. 3079314 c.4511G>A p.R1504K missense 0.00034166●●●●●●
552. 3079303 c.4522G>A p.G1508R missense 0.00001665●●●●●●
553. 3079302 c.4523G>C p.G1508A missense 0.00000832●●●●●●
554. 3079268 c.4557C>G p.N1519K missense 0.00001664●●●●●●
555. 3079260 c.4565C>A p.T1522N missense 0.00000832●●●●●●
556. 3079258 c.4567C>G p.P1523A missense 0.00000833●●●●●●
557. 3079257 c.4568C>T p.P1523L missense 0.00004164●●●●●●
558. 3079255 c.4570A>G p.N1524D missense 0.00000833●●●●●●
559. 3079254 c.4571A>G p.N1524S missense 0.00000833●●●●●●
560. 3079234 c.4591A>G p.M1531V missense 0.00000834●●●●●●
561. 3079227 c.4598T>C p.L1533P missense 0.00000835●●●●●●
562. 3079222 c.4603G>A p.D1535N missense 0.00000836●●●●●●
563. 3079206 c.4619A>G p.H1540R missense 0.00001678●●●●●●
564. 3079203 c.4622A>G p.Q1541R missense 0.00000840●●●●●●
565. 3079192 c.4633G>C p.D1545H missense 0.00000847●●●●●●
566. 3075759 c.4649C>G p.A1550G missense 0.00001941●●●●●●
567. 3075754 c.4654G>A p.D1552N missense 0.00001769●●●●●●
568. 3075750 c.4658A>G p.E1553G missense 0.00001661●●●●●●
569. 3075736 c.4672T>C p.F1558L missense 0.00024706●●●●●●
570. 3075473 c.4687C>G p.Q1563E missense 0.00000830●●●●●●
571. 3071885 c.4711C>T p.R1571C missense 0.00007796●●●●●●
572. 3071882 c.4714G>T p.A1572S missense 0.00001552●●●●●●
573. 3071878 c.4718G>A p.R1573Q missense 0.00860612●●●●●●
574. 3071855 c.4741G>A p.V1581M missense 0.00004757●●●●●●
575. 3071846 c.4750A>G p.I1584V missense 0.00001642●●●●●●
576. 3067540 c.4778C>T p.T1593I missense 0.00000833●●●●●●
577. 3067532 c.4786G>A p.V1596M missense 0.00019958●●●●●●
578. 3067532 c.4786G>C p.V1596L missense 0.00000832●●●●●●
579. 3067526 c.4792G>A p.G1598R missense 0.00020773●●●●●●
580. 3067519 c.4799C>T p.P1600L missense 0.00006643●●●●●●
581. 3067517 c.4801C>T p.P1601S missense 0.00003321●●●●●●
582. 3067508 c.4810G>A p.V1604M missense 0.00000830●●●●●●
583. 3067504 c.4814C>T p.S1605L missense 0.00000830●●●●●●
584. 3067501 c.4817G>T p.W1606L missense 0.00002488●●●●●●
585. 3067490 c.4828G>C p.E1610Q missense 0.00001657●●●●●●
586. 3067490 c.4828G>A p.E1610K missense 0.00004142●●●●●●
587. 3067477 c.4841C>T p.A1614V missense 0.00000828●●●●●●
588. 3067475 c.4843T>C p.S1615P missense 0.00000828●●●●●●
589. 3067470 c.4848C>G p.D1616E missense 0.00000828●●●●●●
590. 3067448 c.4870G>A p.E1624K missense 0.00001654●●●●●●
591. 3067444 c.4874C>A p.A1625D missense 0.00000827●●●●●●
592. 3067438 c.4880G>A p.R1627K missense 0.00000827●●●●●●
593. 3067433 c.4885G>A p.A1629T missense 0.00001653●●●●●●
594. 3067415 c.4903G>A p.G1635S missense 0.00042946●●●●●●
595. 3067415 c.4903G>T p.G1635C missense 0.00000826●●●●●●
596. 3067414 c.4904G>T p.G1635V missense 0.00000826●●●●●●
597. 3067412 c.4906G>A p.V1636M missense 0.00000826●●●●●●
598. 3067409 c.4909A>T p.S1637C missense 0.00002478●●●●●●
599. 3067408 c.4910G>T p.S1637I missense 0.00000826●●●●●●
600. 3067405 c.4913C>T p.T1638I missense 0.00001652●●●●●●
601. 3067400 c.4918G>T p.D1640Y missense 0.00000826●●●●●●
602. 3067396 c.4922C>T p.S1641L missense 0.00004128●●●●●●
603. 3067385 c.4933G>A p.G1645R missense 0.00001652●●●●●●
604. 3067384 c.4934G>T p.G1645V missense 0.00000826●●●●●●
605. 3067360 c.4958G>C p.G1653A missense 0.00000828●●●●●●
606. 3067357 c.4961C>T p.S1654L missense 0.00068860●●●●●●
607. 3067354 c.4964A>G p.E1655G missense 0.00000835●●●●●●
608. 3067351 c.4967C>T p.T1656I missense 0.00000837●●●●●●
609. 3067346 c.4972G>A p.D1658N missense 0.00000843●●●●●●
610. 3067337 c.4981G>A p.V1661I missense 0.00002554●●●●●●
611. 3067331 c.4987G>A p.V1663M missense 0.00000862●●●●●●
612. 3067309 c.5009C>A p.A1670E missense 0.00016492●●●●●●
613. 3067303 c.5015T>G p.M1672R missense 0.00000938●●●●●●
614. 3067298 c.5020G>A p.A1674T missense 0.00000972●●●●●●
615. 3067280 c.5038G>C p.G1680R missense 0.00003106●●●●●●
616. 3067277 c.5041G>C p.G1681R missense 0.00001718●●●●●●

* 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.