MYOM1 variants in ExAC

MYOM1 gene summary
MYOM1 variants in

The table below lists the MYOM1 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. 3215219 c.3_4insA p.Ser2IlefsTer13 frameshift 0.00001065●●●●●●
2. 3215209 c.13T>C p.F5L missense 0.00002043●●●●●●
3. 3215205 c.17A>G p.Y6C missense 0.00001012●●●●●●
4. 3215196 c.26G>A p.C9Y missense 0.00001964●●●●●●
5. 3215194 c.28C>A p.H10N missense 0.00000974●●●●●●
6. 3215165 c.57C>G p.N19K missense 0.00001808●●●●●●
7. 3215162 c.60G>C p.K20N missense 0.00000898●●●●●●
8. 3215160 c.62_63insTCTCAGCTAC p.Val22LeufsTer63 frameshift 0.00000892●●●●●●
9. 3215159 c.63_64insCACCGCAACAAG p.Asp21_Val22insHisArgAsnLys inframe 0.00002646●●●●●●
10. 3215158 c.64G>C p.V22L missense 0.10696710●●●●●●
11. 3215158 c.64G>T p.V22L missense 0.00011465●●●●●●
12. 3215158 c.64G>A p.V22M missense 0.00006173●●●●●●
13. 3215158 c.64_65insACC p.Val22delinsAspLeu inframe 0.00002629●●●●●●
14. 3215158 c.64_65insCAACAAGGACC p.Val22AlafsTer9 frameshift 0.00000876●●●●●●
15. 3215157 c.65T>G p.V22G missense 0.00013143●●●●●●
16. 3215157 c.65T>C p.V22A missense 0.00000876●●●●●●
17. 3215154 c.68G>A p.R23H missense 0.00001746●●●●●●
18. 3215151 c.71G>A p.S24N missense 0.00000870●●●●●●
19. 3215140 c.82C>T p.H28Y missense 0.00000858●●●●●●
20. 3215139 c.83A>C p.H28P missense 0.00000858●●●●●●
21. 3215139 c.83A>G p.H28R missense 0.00000858●●●●●●
22. 3215112 c.110C>T p.A37V missense 0.00014359●●●●●●
23. 3215104 c.118A>G p.T40A missense 0.00000845●●●●●●
24. 3215098 c.124G>A p.G42S missense 0.00001686●●●●●●
25. 3215097 c.125G>T p.G42V missense 0.00004216●●●●●●
26. 3215089 c.133G>T p.A45S missense 0.00000845●●●●●●
27. 3215086 c.136T>C p.Y46H missense 0.00009297●●●●●●
28. 3215083 c.139A>G p.S47G missense 0.00537607●●●●●●
29. 3215077 c.145C>T p.R49C missense 0.00003393●●●●●●
30. 3215070 c.152C>A p.S51Y missense 0.00000848●●●●●●
31. 3215064 c.158C>T p.A53V missense 0.00006772●●●●●●
32. 3215059 c.163C>A p.R55S missense 0.00000847●●●●●●
33. 3215055 c.167G>A p.R56Q missense 0.00000849●●●●●●
34. 3215053 c.169G>C p.E57Q missense 0.00000848●●●●●●
35. 3215050 c.172T>C p.S58P missense 0.00000848●●●●●●
36. 3215038 c.184C>T p.R62C missense 0.00001700●●●●●●
37. 3215037 c.185G>A p.R62H missense 0.00001701●●●●●●
38. 3215037 c.185G>T p.R62L missense 0.00000850●●●●●●
39. 3215034 c.188G>T p.R63L missense 0.00000850●●●●●●
40. 3215026 c.196G>T p.A66S missense 0.00001701●●●●●●
41. 3215023 c.199T>G p.S67A missense 0.00003397●●●●●●
42. 3215022 c.200C>T p.S67F missense 0.00001698●●●●●●
43. 3215019 c.203C>A p.S68Y missense 0.00000849●●●●●●
44. 3215016 c.206C>G p.S69C missense 0.00000848●●●●●●
45. 3215013 c.209dupA p.Gln71AlafsTer11 frameshift 0.00000848●●●●●●
46. 3215011 c.211C>G p.Q71E missense 0.00000848●●●●●●
47. 3215004 c.218C>A p.A73D missense 0.00001696●●●●●●
48. 3214993 c.229G>A p.A77T missense 0.00000850●●●●●●
49. 3214971 c.251G>C p.R84P missense 0.00001725●●●●●●
50. 3214971 c.251G>A p.R84Q missense 0.00001725●●●●●●
51. 3214969 c.253A>C p.K85Q missense 0.00001729●●●●●●
52. 3214963 c.259G>A p.A87T missense 0.00000873●●●●●●
53. 3214959 c.263C>T p.S88L missense 0.00000877●●●●●●
54. 3214945 c.277G>A p.G93S missense 0.00000901●●●●●●
55. 3214941 c.281C>G p.S94C missense 0.00005437●●●●●●
56. 3214941 c.281C>T p.S94F missense 0.00004531●●●●●●
57. 3214933 c.289G>A p.G97R missense 0.00000922●●●●●●
58. 3214932 c.290G>T p.G97V missense 0.00213277●●●●●●
59. 3214931 c.290+1G>A essential splice site 0.00000926●●●●●●
60. 3214924 c.290+8G>A splice site 0.00010294●●●●●●
61. 3214924 c.290+8G>T splice site 0.00000936●●●●●●
62. 3193952 c.295A>C p.T99P missense 0.00000866●●●●●●
63. 3193951 c.296C>A p.T99K missense 0.00001729●●●●●●
64. 3193948 c.299A>G p.D100G missense 0.00000863●●●●●●
65. 3193921 c.326C>T p.S109L missense 0.00000841●●●●●●
66. 3193918 c.329C>T p.S110F missense 0.00000840●●●●●●
67. 3193901 c.346C>G p.P116A missense 0.00001672●●●●●●
68. 3193898 c.349A>G p.K117E missense 0.00000835●●●●●●
69. 3193879 c.368T>C p.L123P missense 0.00001665●●●●●●
70. 3193870 c.377G>A p.G126E missense 0.00001663●●●●●●
71. 3193865 c.382G>C p.E128Q missense 0.00000831●●●●●●
72. 3193838 c.409A>C p.M137L missense 0.00000830●●●●●●
73. 3193835 c.412G>A p.V138I missense 0.00001661●●●●●●
74. 3193832 c.415C>T p.P139S missense 0.00000830●●●●●●
75. 3193822 c.425C>G p.S142X nonsense 0.00000831●●●●●●
76. 3193817 c.430C>T p.R144C missense 0.00003329●●●●●●
77. 3193816 c.431G>A p.R144H missense 0.00015825●●●●●●
78. 3193811 c.431+5G>C splice site 0.00002503●●●●●●
79. 3189095 c.432-10_432-8delTGT splice site 0.00040116●●●●●●
80. 3189081 c.436A>C p.K146Q missense 0.00000845●●●●●●
81. 3189078 c.439C>G p.H147D missense 0.00000844●●●●●●
82. 3189057 c.460A>G p.T154A missense 0.00000833●●●●●●
83. 3189056 c.461C>T p.T154M missense 0.00059117●●●●●●
84. 3189049 c.468A>T p.E156D missense 0.00000831●●●●●●
85. 3189044 c.473G>C p.R158T missense 0.00000830●●●●●●
86. 3189023 c.494A>G p.Y165C missense 0.00000828●●●●●●
87. 3189021 c.496A>G p.I166V missense 0.00001656●●●●●●
88. 3189020 c.497T>C p.I166T missense 0.00006625●●●●●●
89. 3189007 c.510T>A p.N170K missense 0.00000828●●●●●●
90. 3188997 c.520A>G p.S174G missense 0.00000828●●●●●●
91. 3188979 c.538A>G p.T180A missense 0.00005796●●●●●●
92. 3188978 c.539C>T p.T180I missense 0.00143240●●●●●●
93. 3188976 c.541T>C p.S181P missense 0.43735299●●●●●●
94. 3188969 c.548delA p.Gln183ArgfsTer62 frameshift 0.00003312●●●●●●
95. 3188963 c.554C>T p.T185M missense 0.00002484●●●●●●
96. 3188951 c.566A>T p.Q189L missense 0.00003312●●●●●●
97. 3188948 c.569C>T p.T190I missense 0.00000828●●●●●●
98. 3188945 c.572C>T p.T191M missense 0.00062949●●●●●●
99. 3188930 c.587C>T p.S196F missense 0.00000828●●●●●●
100. 3188927 c.590C>T p.T197M missense 0.00246032●●●●●●
101. 3188925 c.592G>A p.A198T missense 0.00000828●●●●●●
102. 3188907 c.610G>A p.A204T missense 0.00000828●●●●●●
103. 3188906 c.611C>A p.A204E missense 0.00002484●●●●●●
104. 3188906 c.611C>T p.A204V missense 0.00000828●●●●●●
105. 3188900 c.617A>G p.K206R missense 0.00004142●●●●●●
106. 3188891 c.626C>T p.T209M missense 0.00004969●●●●●●
107. 3188880 c.637C>T p.Q213X nonsense 0.00002484●●●●●●
108. 3188876 c.641_642insCACGGCATCCAGGCAGTC p.Ser220_Val221insThrAlaSerArgGlnSer inframe 0.00000829●●●●●●
109. 3188875 c.642_659delCACGGCATCCAGGCAGTC p.Thr215_Ser220del inframe 0.00014929●●●●●●
110. 3188875 c.642_660delCACGGCATCCAGGCAGTCTinsCACGGCATCCAGGCAGTCCATGGCATCCAGGCAGT p.Val221MetfsTer22 frameshift 0.00002488●●●●●●
111. 3188873 c.644C>T p.T215M missense 0.05654999●●●●●●
112. 3188868 c.649T>G p.S217A missense 0.00000830●●●●●●
113. 3188857 c.660_661insCC p.Val221ProfsTer25 frameshift 0.00002488●●●●●●
114. 3188832 c.685G>A p.A229T missense 0.00004152●●●●●●
115. 3188820 c.697G>A p.E233K missense 0.00000834●●●●●●
116. 3188803 c.714G>T p.K238N missense 0.00000858●●●●●●
117. 3188790 c.727G>C p.V243L missense 0.00008162●●●●●●
118. 3188789 c.728T>C p.V243A missense 0.00000910●●●●●●
119. 3188778 c.739G>A p.E247K missense 0.00467073●●●●●●
120. 3188740 c.771+6A>G splice site 0.00006509●●●●●●
121. 3187640 c.772-5T>C splice site 0.00006808●●●●●●
122. 3187639 c.772-4T>C splice site 0.00000963●●●●●●
123. 3187631 c.776A>G p.E259G missense 0.00001847●●●●●●
124. 3187623 c.784G>A p.E262K missense 0.00000879●●●●●●
125. 3187599 c.808G>A p.E270K missense 0.00004164●●●●●●
126. 3187595 c.812A>G p.D271G missense 0.00000831●●●●●●
127. 3187586 c.821T>A p.L274H missense 0.00001659●●●●●●
128. 3187586 c.821T>C p.L274P missense 0.00000829●●●●●●
129. 3187556 c.851G>A p.R284H missense 0.00003313●●●●●●
130. 3187547 c.860C>T p.T287M missense 0.00004969●●●●●●
131. 3187532 c.875A>G p.E292G missense 0.00000828●●●●●●
132. 3187519 c.888G>C p.L296F missense 0.00000828●●●●●●
133. 3187508 c.899T>C p.I300T missense 0.00000828●●●●●●
134. 3187500 c.907T>G p.W303G missense 0.00005798●●●●●●
135. 3187488 c.919C>T p.R307C missense 0.00004142●●●●●●
136. 3187487 c.920G>C p.R307P missense 0.00008285●●●●●●
137. 3187481 c.926C>T p.T309M missense 0.00003315●●●●●●
138. 3187480 c.927G>C splice site 0.00000829●●●●●●
139. 3187475 c.929+3A>G splice site 0.00001658●●●●●●
140. 3176111 c.951A>G p.I317M missense 0.00000847●●●●●●
141. 3176107 c.955G>A p.V319I missense 0.00012663●●●●●●
142. 3176103 c.959A>G p.H320R missense 0.00001681●●●●●●
143. 3176096 c.966C>A p.N322K missense 0.00000837●●●●●●
144. 3176094 c.968C>G p.P323R missense 0.00000837●●●●●●
145. 3176092 c.970G>C p.G324R missense 0.00010032●●●●●●
146. 3176085 c.977A>G p.Y326C missense 0.00000834●●●●●●
147. 3176080 c.982_984delATT p.Ile328del inframe 0.00012509●●●●●●
148. 3176079 c.983T>C p.I328T missense 0.00000834●●●●●●
149. 3176077 c.985G>A p.E329K missense 0.00000834●●●●●●
150. 3176071 c.991C>T p.R331X nonsense 0.00003335●●●●●●
151. 3176070 c.992G>A p.R331Q missense 0.00035841●●●●●●
152. 3176070 c.992G>T p.R331L missense 0.00000834●●●●●●
153. 3176067 c.995A>G p.Y332C missense 0.00013334●●●●●●
154. 3176053 c.1009C>G p.L337V missense 0.00003329●●●●●●
155. 3176040 c.1022G>C p.G341A missense 0.73841187●●●●●●
156. 3176040 c.1022G>T p.G341V missense 0.00000839●●●●●●
157. 3176039 c.1022+1G>A essential splice site 0.00000869●●●●●●
158. 3176039 c.1022+1G>T essential splice site 0.00000869●●●●●●
159. 3174214 c.1023-8T>C splice site 0.00000831●●●●●●
160. 3174207 c.1023-1G>C essential splice site 0.00000830●●●●●●
161. 3174202 c.1027G>A p.D343N missense 0.00000830●●●●●●
162. 3174198 c.1031T>A p.F344Y missense 0.00000830●●●●●●
163. 3174193 c.1036G>A p.D346N missense 0.00000829●●●●●●
164. 3174180 c.1049A>C p.Y350S missense 0.00000829●●●●●●
165. 3174178 c.1051C>T p.R351W missense 0.00009116●●●●●●
166. 3174177 c.1052G>A p.R351Q missense 0.00006630●●●●●●
167. 3174171 c.1058C>T p.S353L missense 0.00006628●●●●●●
168. 3174162 c.1067A>G p.N356S missense 0.00004141●●●●●●
169. 3174151 c.1078G>A p.E360K missense 0.00000828●●●●●●
170. 3174144 c.1085C>T p.S362L missense 0.00000828●●●●●●
171. 3174142 c.1087G>C p.A363P missense 0.00000828●●●●●●
172. 3174133 c.1096T>G p.S366A missense 0.00003312●●●●●●
173. 3174119 c.1110A>C p.K370N missense 0.00000828●●●●●●
174. 3174118 c.1111A>G p.R371G missense 0.00002484●●●●●●
175. 3174110 c.1111+8delT splice site 0.00000828●●●●●●
176. 3174009 c.1112-11T>C splice site 0.00364673●●●●●●
177. 3174002 c.1112-4C>T splice site 0.00003315●●●●●●
178. 3174001 c.1112-3T>C splice site 0.00000829●●●●●●
179. 3173994 c.1116T>A p.Tyr372Ter nonsense 0.00000829●●●●●●
180. 3173993 c.1117A>G p.K373E missense 0.00000829●●●●●●
181. 3173987 c.1123G>A p.E375K missense 0.00000829●●●●●●
182. 3173972 c.1138C>T p.R380C missense 0.00010775●●●●●●
183. 3173971 c.1139G>C p.R380P missense 0.00000829●●●●●●
184. 3173965 c.1145A>G p.H382R missense 0.00001658●●●●●●
185. 3173963 c.1147G>A p.A383T missense 0.00000829●●●●●●
186. 3173957 c.1153G>T p.A385S missense 0.00001659●●●●●●
187. 3173950 c.1160C>T p.T387I missense 0.00082141●●●●●●
188. 3173942 c.1168C>T p.L390F missense 0.00003322●●●●●●
189. 3168981 c.1175-2A>T essential splice site 0.00025514●●●●●●
190. 3168968 c.1186C>T p.P396S missense 0.00010134●●●●●●
191. 3168964 c.1190A>G p.Y397C missense 0.00000988●●●●●●
192. 3168961 c.1193G>T p.G398V missense 0.00000970●●●●●●
193. 3168952 c.1202C>A p.S401Y missense 0.00000930●●●●●●
194. 3168950 c.1204C>T p.R402W missense 0.00011100●●●●●●
195. 3168949 c.1205G>A p.R402Q missense 0.00000921●●●●●●
196. 3168932 c.1222G>A p.D408N missense 0.00000878●●●●●●
197. 3168924 c.1230A>C p.K410N missense 0.00000866●●●●●●
198. 3168922 c.1232T>C p.F411S missense 0.00002590●●●●●●
199. 3168919 c.1235A>G p.D412G missense 0.00000862●●●●●●
200. 3168898 c.1256delG p.Gly419GlufsTer4 frameshift 0.00000845●●●●●●
201. 3168896 c.1258G>A p.E420K missense 0.00004224●●●●●●
202. 3168895 c.1259A>G p.E420G missense 0.00003379●●●●●●
203. 3168890 c.1264A>G p.M422V missense 0.00004200●●●●●●
204. 3168875 c.1279C>T p.R427C missense 0.00000836●●●●●●
205. 3168874 c.1280G>A p.R427H missense 0.00002504●●●●●●
206. 3168872 c.1282_1283delGT p.Val428CysfsTer5 frameshift 0.00000834●●●●●●
207. 3168866 c.1288A>G p.I430V missense 0.00001666●●●●●●
208. 3168832 c.1322T>C p.I441T missense 0.00000830●●●●●●
209. 3168830 c.1324C>G p.Q442E missense 0.00000830●●●●●●
210. 3168820 c.1334G>T p.R445I missense 0.00013288●●●●●●
211. 3168816 c.1338C>T p.N446N splice site 0.26201991●●●●●●
212. 3168815 c.1339G>A p.G447R missense 0.00000832●●●●●●
213. 3168804 c.1339+11A>C splice site 0.00000834●●●●●●
214. 3164441 c.1340-4C>A splice site 0.00034944●●●●●●
215. 3164434 c.1343T>G p.V448G missense 0.00017689●●●●●●
216. 3164419 c.1358C>T p.S453L missense 0.00003861●●●●●●
217. 3164412 c.1365G>A p.W455X nonsense 0.00003675●●●●●●
218. 3164407 c.1370A>G p.Q457R missense 0.00002389●●●●●●
219. 3164399 c.1378T>C p.W460R missense 0.00001162●●●●●●
220. 3164387 c.1390C>T p.R464W missense 0.00011186●●●●●●
221. 3164386 c.1391G>A p.R464Q missense 0.00006673●●●●●●
222. 3164381 c.1396A>C p.T466P missense 0.00001037●●●●●●
223. 3164380 c.1397C>T p.T466M missense 0.00023850●●●●●●
224. 3164339 c.1438T>C p.Y480H missense 0.00003960●●●●●●
225. 3164333 c.1444A>G p.I482V missense 0.00000983●●●●●●
226. 3164332 c.1445T>C p.I482T missense 0.00000982●●●●●●
227. 3164330 c.1447C>T p.R483C missense 0.00000984●●●●●●
228. 3164329 c.1448G>A p.R483H missense 0.00027463●●●●●●
229. 3164324 c.1453C>T p.R485W missense 0.00002936●●●●●●
230. 3164323 c.1454G>A p.R485Q missense 0.00002938●●●●●●
231. 3164323 c.1454G>T p.R485L missense 0.00002938●●●●●●
232. 3164317 c.1460G>C p.G487A missense 0.00000978●●●●●●
233. 3164311 c.1466A>G p.Y489C missense 0.00010732●●●●●●
234. 3164294 c.1483G>T p.A495S missense 0.00000986●●●●●●
235. 3164279 c.1498C>T p.R500X nonsense 0.00003053●●●●●●
236. 3164278 c.1499G>A p.R500Q missense 0.00001023●●●●●●
237. 3164276 c.1501G>A p.D501N missense 0.00005144●●●●●●
238. 3155085 c.1503T>C splice site 0.00001976●●●●●●
239. 3155074 c.1514A>C p.E505A missense 0.00000964●●●●●●
240. 3155065 c.1523G>A p.G508E missense 0.00001900●●●●●●
241. 3155063 c.1525G>A p.A509T missense 0.00000951●●●●●●
242. 3155042 c.1546G>T p.V516L missense 0.00000922●●●●●●
243. 3155042 c.1546G>A p.V516M missense 0.00000922●●●●●●
244. 3155020 c.1568A>G p.K523R missense 0.00002775●●●●●●
245. 3155014 c.1574A>G p.Y525C missense 0.00000932●●●●●●
246. 3155009 c.1579A>G p.I527V missense 0.00000937●●●●●●
247. 3155006 c.1582A>G p.I528V missense 0.00000942●●●●●●
248. 3154988 c.1600G>T p.A534S missense 0.00000977●●●●●●
249. 3154982 c.1606G>A p.D536N missense 0.00016015●●●●●●
250. 3154976 c.1612G>A p.G538R missense 0.00004077●●●●●●
251. 3154961 c.1627G>A p.G543R missense 0.00007556●●●●●●
252. 3154952 c.1636A>G p.I546V missense 0.00001121●●●●●●
253. 3154951 c.1637T>C p.I546T missense 0.00002248●●●●●●
254. 3151902 c.1644-11C>T splice site 0.00013414●●●●●●
255. 3151896 c.1644-5T>A splice site 0.00001667●●●●●●
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345. 3135617 c.2137C>T p.R713C missense 0.00011680●●●●●●
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347. 3135613 c.2141G>C p.C714S missense 0.00002506●●●●●●
348. 3135593 c.2161G>A p.G721S missense 0.00007553●●●●●●
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350. 3135581 c.2173G>T p.E725X nonsense 0.00000843●●●●●●
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354. 3135569 c.2185G>A p.V729M missense 0.00001706●●●●●●
355. 3135552 c.2202C>A p.D734E missense 0.00000884●●●●●●
356. 3134826 c.2210-4T>G splice site 0.01005893●●●●●●
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359. 3134817 c.2215C>T p.P739S missense 0.00002487●●●●●●
360. 3134811 c.2221G>C p.A741P missense 0.00051363●●●●●●
361. 3134796 c.2236A>C p.I746L missense 0.00000828●●●●●●
362. 3134771 c.2261C>T p.S754L missense 0.00000828●●●●●●
363. 3134762 c.2270T>C p.V757A missense 0.00004141●●●●●●
364. 3134759 c.2273C>T p.S758L missense 0.00004141●●●●●●
365. 3134754 c.2278G>A p.E760K missense 0.00000828●●●●●●
366. 3134742 c.2290G>A p.D764N missense 0.00000828●●●●●●
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368. 3134736 c.2296A>C p.K766Q missense 0.00003313●●●●●●
369. 3134724 c.2308G>A p.G770R missense 0.00003313●●●●●●
370. 3134723 c.2309G>A p.G770E missense 0.00000828●●●●●●
371. 3134715 c.2317_2318insA p.Ile773AsnfsTer15 frameshift 0.00000828●●●●●●
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377. 3134699 c.2333C>T p.A778V missense 0.00000829●●●●●●
378. 3134691 c.2341G>C p.G781R missense 0.00000829●●●●●●
379. 3134682 c.2350G>A p.E784K missense 0.00054791●●●●●●
380. 3134665 c.2367C>G p.N789K missense 0.00000835●●●●●●
381. 3134663 c.2369C>T p.P790L missense 0.00001672●●●●●●
382. 3134649 c.2383C>T p.R795X nonsense 0.00005101●●●●●●
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384. 3134644 c.2384+4A>T splice site 0.00085628●●●●●●
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388. 3131450 c.2429G>A p.R810Q missense 0.00004186●●●●●●
389. 3131435 c.2444A>G p.N815S missense 0.00003336●●●●●●
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391. 3131432 c.2447C>T p.A816V missense 0.00000833●●●●●●
392. 3131419 c.2460T>A p.S820R missense 0.00000832●●●●●●
393. 3131406 c.2473G>A p.D825N missense 0.00000831●●●●●●
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397. 3129521 c.2507-4G>A splice site 0.00000861●●●●●●
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407. 3129447 c.2577dupG p.Arg860AlafsTer4 frameshift 0.00016566●●●●●●
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409. 3129443 c.2581G>A p.V861M missense 0.00004142●●●●●●
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411. 3129427 c.2597C>T p.P866L missense 0.00004969●●●●●●
412. 3129415 c.2609A>G p.Q870R missense 0.00000828●●●●●●
413. 3129406 c.2618delC p.Ala873ValfsTer24 frameshift 0.00001656●●●●●●
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415. 3129368 c.2656A>G p.S886G missense 0.00056307●●●●●●
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421. 3129307 c.2717A>C p.E906A missense 0.00014908●●●●●●
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423. 3129301 c.2723C>T p.T908I missense 0.00000828●●●●●●
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427. 3129295 c.2729C>T p.P910L missense 0.00021566●●●●●●
428. 3129289 c.2735A>G p.Q912R missense 0.00000828●●●●●●
429. 3129280 c.2744C>G p.A915G missense 0.00000829●●●●●●
430. 3129251 c.2773delC p.Leu925Ter frameshift 0.00000849●●●●●●
431. 3129234 c.2790_2793delCAGA p.Asp930GlufsTer40 frameshift 0.00001812●●●●●●
432. 3126872 c.2818A>G p.I940V missense 0.00002198●●●●●●
433. 3126871 c.2819T>A p.I940N missense 0.00001088●●●●●●
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435. 3126854 c.2836T>C p.F946L missense 0.00001001●●●●●●
436. 3126851 c.2839C>T p.R947C missense 0.00000988●●●●●●
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438. 3126844 c.2846C>G p.S949X nonsense 0.00000963●●●●●●
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440. 3126839 c.2851G>T p.V951F missense 0.00008492●●●●●●
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442. 3126824 c.2866C>T p.Q956X nonsense 0.00000901●●●●●●
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445. 3126811 c.2879T>C p.I960T missense 0.19973158●●●●●●
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448. 3126787 c.2903A>C p.Y968S missense 0.00002539●●●●●●
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450. 3126778 c.2912A>C p.N971T missense 0.00000843●●●●●●
451. 3126773 c.2917C>T p.R973C missense 0.00001683●●●●●●
452. 3126772 c.2918G>A p.R973H missense 0.00004208●●●●●●
453. 3126770 c.2920G>A p.E974K missense 0.00006730●●●●●●
454. 3126755 c.2935G>A p.V979I missense 0.00002513●●●●●●
455. 3126745 c.2945A>G p.K982R missense 0.00000838●●●●●●
456. 3126725 c.2965A>C p.K989Q missense 0.00000845●●●●●●
457. 3126715 c.2975G>T p.S992I missense 0.00002563●●●●●●
458. 3126713 c.2977G>A p.E993K missense 0.00000857●●●●●●
459. 3126712 c.2978A>G p.E993G missense 0.00000858●●●●●●
460. 3126698 c.2991+1G>T essential splice site 0.00000889●●●●●●
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462. 3126691 c.2991+8C>T splice site 0.00002743●●●●●●
463. 3119999 c.2992-6T>C splice site 0.00001718●●●●●●
464. 3119975 c.3010A>G p.N1004D missense 0.00019856●●●●●●
465. 3119971 c.3014T>A p.M1005K missense 0.00001379●●●●●●
466. 3119954 c.3031G>A p.V1011M missense 0.00001244●●●●●●
467. 3119951 c.3034G>T p.A1012S missense 0.00001223●●●●●●
468. 3119947 c.3038C>T p.A1013V missense 0.00411826●●●●●●
469. 3119938 c.3047T>C p.M1016T missense 0.00001110●●●●●●
470. 3119929 c.3056T>C p.L1019P missense 0.00001060●●●●●●
471. 3119925 c.3060_3061insTGGGC p.Ala1021TrpfsTer7 frameshift 0.00001029●●●●●●
472. 3119924 c.3061G>A p.A1021T missense 0.00004118●●●●●●
473. 3119923 c.3062C>T p.A1021V missense 0.00004086●●●●●●
474. 3119915 c.3070G>A p.A1024T missense 0.00003890●●●●●●
475. 3119915 c.3070G>T p.A1024S missense 0.00001945●●●●●●
476. 3119906 c.3079G>A p.E1027K missense 0.00000919●●●●●●
477. 3119888 c.3097G>A p.E1033K missense 0.00004326●●●●●●
478. 3119876 c.3109G>A p.A1037T missense 0.00007706●●●●●●
479. 3119873 c.3112G>A p.V1038I missense 0.00002564●●●●●●
480. 3119867 c.3118G>A p.G1040R missense 0.00000851●●●●●●
481. 3119859 c.3118+8A>G splice site 0.00000849●●●●●●
482. 3116512 c.3120A>G splice site 0.00001800●●●●●●
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484. 3116484 c.3148G>C p.V1050L missense 0.00001751●●●●●●
485. 3116479 c.3153G>C p.R1051S missense 0.00000872●●●●●●
486. 3116474 c.3158A>G p.D1053G missense 0.00002609●●●●●●
487. 3116474 c.3158A>C p.D1053A missense 0.00002609●●●●●●
488. 3116472 c.3160_3161delTC p.Ser1054ThrfsTer38 frameshift 0.00000869●●●●●●
489. 3116445 c.3187G>A p.V1063I missense 0.00000875●●●●●●
490. 3116442 c.3190C>T p.H1064Y missense 0.00000869●●●●●●
491. 3116436 c.3196G>A p.G1066R missense 0.00008482●●●●●●
492. 3116433 c.3199C>T p.R1067W missense 0.00001698●●●●●●
493. 3116432 c.3200G>A p.R1067Q missense 0.00002548●●●●●●
494. 3116426 c.3206C>T p.P1069L missense 0.00003404●●●●●●
495. 3116409 c.3223G>A p.V1075M missense 0.00007767●●●●●●
496. 3116403 c.3229T>A p.L1077M missense 0.00000868●●●●●●
497. 3116387 c.3245C>G p.A1082G missense 0.00000883●●●●●●
498. 3116373 c.3259T>C p.W1087R missense 0.00000897●●●●●●
499. 3116372 c.3260G>A p.W1087X nonsense 0.00002696●●●●●●
500. 3116360 c.3272A>G p.N1091S missense 0.00000923●●●●●●
501. 3116354 c.3278C>T p.A1093V missense 0.00003778●●●●●●
502. 3116352 c.3280G>C p.A1094P missense 0.00006671●●●●●●
503. 3116349 c.3283A>G p.I1095V missense 0.00001926●●●●●●
504. 3116341 c.3291C>A p.N1097K missense 0.00000996●●●●●●
505. 3116341 c.3291C>G p.N1097K missense 0.00001992●●●●●●
506. 3116340 c.3292G>A p.V1098I missense 0.00001002●●●●●●
507. 3116337 c.3295T>C p.Y1099H missense 0.00001012●●●●●●
508. 3116325 c.3303+4delA splice site 0.00008640●●●●●●
509. 3112411 c.3304-1G>T essential splice site 0.00000875●●●●●●
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763. 3067412 c.4906G>A p.V1636M missense 0.00000826●●●●●●
764. 3067409 c.4909A>T p.S1637C missense 0.00002478●●●●●●
765. 3067408 c.4910G>T p.S1637I missense 0.00000826●●●●●●
766. 3067405 c.4913C>T p.T1638I missense 0.00001652●●●●●●
767. 3067400 c.4918G>T p.D1640Y missense 0.00000826●●●●●●
768. 3067396 c.4922C>T p.S1641L missense 0.00004128●●●●●●
769. 3067385 c.4933G>A p.G1645R missense 0.00001652●●●●●●
770. 3067384 c.4934G>T p.G1645V missense 0.00000826●●●●●●
771. 3067360 c.4958G>C p.G1653A missense 0.00000828●●●●●●
772. 3067357 c.4961C>T p.S1654L missense 0.00068860●●●●●●
773. 3067357 c.4961C>A p.S1654X nonsense 0.00000830●●●●●●
774. 3067354 c.4964A>G p.E1655G missense 0.00000835●●●●●●
775. 3067351 c.4967C>T p.T1656I missense 0.00000837●●●●●●
776. 3067346 c.4972G>A p.D1658N missense 0.00000843●●●●●●
777. 3067337 c.4981G>A p.V1661I missense 0.00002554●●●●●●
778. 3067331 c.4987G>A p.V1663M missense 0.00000862●●●●●●
779. 3067313 c.5005_5006insGT p.Glu1669GlyfsTer11 frameshift 0.00000899●●●●●●
780. 3067309 c.5009C>A p.A1670E missense 0.00016492●●●●●●
781. 3067303 c.5015T>G p.M1672R missense 0.00000938●●●●●●
782. 3067298 c.5020G>A p.A1674T missense 0.00000972●●●●●●
783. 3067280 c.5038G>C p.G1680R missense 0.00003106●●●●●●
784. 3067277 c.5041G>C p.G1681R missense 0.00001718●●●●●●
785. 3067273 c.5045dupA p.Lys1683GlufsTer16 frameshift 0.00030685●●●●●●

* 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.