MYH7 protein-altering variants in ExAC

MYH7 gene summary
MYH7 variants in HCM, DCM

The table below lists the MYH7 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 frequency▼Populations*
1. 23902931 c.11C>T p.S4L missense 0.00001656●●●●●●
2. 23902925 c.17T>C p.M6T missense 0.00002482●●●●●●
3. 23902920 c.22G>A p.V8I missense 0.00000827●●●●●●
4. 23902920 c.22G>C p.V8L missense 0.00000827●●●●●●
5. 23902914 c.28G>C p.G10R missense 0.00007434●●●●●●
6. 23902901 c.41C>T p.P14L missense 0.00000825●●●●●●
7. 23902888 c.54G>C p.K18N missense 0.00000825●●●●●●
8. 23902888 c.54delG p.Lys18AsnfsTer7 frameshift 0.00000824●●●●●●
9. 23902875 c.67C>T p.R23W missense 0.00002473●●●●●●
10. 23902866 c.76G>A p.A26T missense 0.00000824●●●●●●
11. 23902851 c.91T>C p.F31L missense 0.00000824●●●●●●
12. 23902827 c.115G>A p.V39M missense 0.00005768●●●●●●
13. 23902818 c.124G>A p.D42N missense 0.00000824●●●●●●
14. 23902804 c.138T>A p.F46L missense 0.00000824●●●●●●
15. 23902782 c.160C>G p.R54G missense 0.00000824●●●●●●
16. 23902781 c.161G>T p.R54L missense 0.00000824●●●●●●
17. 23902781 c.161G>A p.R54Q missense 0.00001649●●●●●●
18. 23902776 c.166G>A p.G56S missense 0.00000824●●●●●●
19. 23902767 c.175G>A p.V59I missense 0.00000824●●●●●●
20. 23902767 c.175G>T p.V59F missense 0.00000824●●●●●●
21. 23902758 c.184G>A p.E62K missense 0.00000824●●●●●●
22. 23902430 c.208A>T p.T70S missense 0.00000824●●●●●●
23. 23902427 c.211G>A p.V71M missense 0.00004119●●●●●●
24. 23902385 c.253G>C p.D85H missense 0.00001647●●●●●●
25. 23902379 c.259delA p.Ile87SerfsTer7 frameshift 0.00000824●●●●●●
26. 23902370 c.268A>G p.M90V missense 0.00001647●●●●●●
27. 23902340 c.298G>A p.A100T missense 0.00001647●●●●●●
28. 23902340 c.298G>T p.A100S missense 0.00000824●●●●●●
29. 23902310 c.328G>A p.G110S missense 0.00002472●●●●●●
30. 23902303 c.335G>A p.W112X nonsense 0.00000824●●●●●●
31. 23902298 c.340A>T p.I114F missense 0.00000824●●●●●●
32. 23902297 c.341T>C p.I114T missense 0.00000824●●●●●●
33. 23902295 c.343T>C p.Y115H missense 0.00000824●●●●●●
34. 23902292 c.345+1G>A essential splice site 0.00002473●●●●●●
35. 23902000 c.350A>T p.Y117F missense 0.00004127●●●●●●
36. 23901953 c.397G>A p.V133M missense 0.00000825●●●●●●
37. 23901923 c.427C>T p.R143W missense 0.00004942●●●●●●
38. 23901922 c.428G>A p.R143Q missense 0.00000824●●●●●●
39. 23901908 c.442A>G p.S148G missense 0.00001647●●●●●●
40. 23901907 c.443G>T p.S148I missense 0.00000824●●●●●●
41. 23901905 c.445G>A p.E149K missense 0.00000824●●●●●●
42. 23901885 c.465C>A p.F155L missense 0.00000824●●●●●●
43. 23901869 c.481G>A p.A161T missense 0.00002471●●●●●●
44. 23901850 c.500C>G p.T167R missense 0.00000824●●●●●●
45. 23901717 c.503-2A>T essential splice site 0.00000824●●●●●●
46. 23901688 c.530C>T p.T177I missense 0.00001647●●●●●●
47. 23901068 c.541G>A p.G181R missense 0.00000824●●●●●●
48. 23901044 c.565A>C p.K189Q missense 0.00000824●●●●●●
49. 23901020 c.589G>A p.V197I missense 0.00001647●●●●●●
50. 23901008 c.601A>T p.I201F missense 0.00001647●●●●●●
51. 23900999 c.610C>T p.R204C missense 0.00002471●●●●●●
52. 23900977 c.632C>T p.P211L missense 0.00002471●●●●●●
53. 23900886 c.640G>A p.G214S missense 0.00000824●●●●●●
54. 23900868 c.658A>G p.I220V missense 0.00001647●●●●●●
55. 23900820 c.706G>A p.V236I missense 0.00000824●●●●●●
56. 23900817 c.709C>T p.R237W missense 0.00000824●●●●●●
57. 23900798 c.728G>A p.R243H missense 0.00000824●●●●●●
58. 23900691 c.733-1G>A essential splice site 0.00000824●●●●●●
59. 23900672 c.751C>T p.H251Y missense 0.00000824●●●●●●
60. 23900184 c.821T>C p.I274T missense 0.00000825●●●●●●
61. 23900152 c.853A>G p.I285V missense 0.00000824●●●●●●
62. 23900130 c.875A>C p.N292T missense 0.00000824●●●●●●
63. 23899870 c.898A>T p.M300L missense 0.00000831●●●●●●
64. 23899858 c.910A>T p.T304S missense 0.00000829●●●●●●
65. 23899855 c.913A>C p.N305H missense 0.00000829●●●●●●
66. 23899852 c.916A>G p.N306D missense 0.00000829●●●●●●
67. 23899843 c.925G>A p.D309N missense 0.00002486●●●●●●
68. 23899834 c.934T>C p.F312L missense 0.00000829●●●●●●
69. 23899832 c.936C>A p.F312L missense 0.00000829●●●●●●
70. 23899819 c.949G>C p.E317Q missense 0.00000832●●●●●●
71. 23899810 c.958G>A p.V320M missense 0.00000835●●●●●●
72. 23899800 c.968T>C p.I323T missense 0.00007549●●●●●●
73. 23899800 c.968T>G p.I323S missense 0.00000839●●●●●●
74. 23899792 c.976G>C p.A326P missense 0.00006783●●●●●●
75. 23899104 c.1018G>A p.G340S missense 0.00000824●●●●●●
76. 23899089 c.1033G>A p.E345K missense 0.00000824●●●●●●
77. 23899077 c.1045A>G p.M349V missense 0.00002471●●●●●●
78. 23899036 c.1086G>T p.M362I missense 0.00000824●●●●●●
79. 23899027 c.1095G>T p.K365N missense 0.00000824●●●●●●
80. 23898996 c.1126G>C p.D376H missense 0.00000824●●●●●●
81. 23898994 c.1128C>A p.D376E missense 0.00000824●●●●●●
82. 23898993 c.1129G>A p.G377S missense 0.00002471●●●●●●
83. 23898465 c.1230C>A p.Y410X nonsense 0.00000824●●●●●●
84. 23898464 c.1231G>A p.V411I missense 0.00000824●●●●●●
85. 23898449 c.1246A>C p.N416H missense 0.00001647●●●●●●
86. 23898309 c.1262T>C p.I421T missense 0.00000824●●●●●●
87. 23898256 c.1315A>T p.M439L missense 0.00001647●●●●●●
88. 23898247 c.1324C>T p.R442C missense 0.00000824●●●●●●
89. 23898246 c.1325G>A p.R442H missense 0.00001647●●●●●●
90. 23898237 c.1334C>T p.A445V missense 0.00001647●●●●●●
91. 23898201 c.1370T>C p.I457T missense 0.00000824●●●●●●
92. 23898166 c.1405G>A p.D469N missense 0.00000824●●●●●●
93. 23897840 c.1447G>A p.E483K missense 0.00000824●●●●●●
94. 23897768 c.1519G>A p.E507K missense 0.00000824●●●●●●
95. 23897094 c.1588A>G p.I530V missense 0.00000824●●●●●●
96. 23897081 c.1601T>C p.L534P missense 0.00000824●●●●●●
97. 23897071 c.1611G>C p.E537D missense 0.00001647●●●●●●
98. 23897052 c.1630A>G p.T544A missense 0.00001647●●●●●●
99. 23897020 c.1662C>A p.D554E missense 0.00000824●●●●●●
100. 23897001 c.1681G>A p.A561T missense 0.00004118●●●●●●
101. 23897001 c.1681G>T p.A561S missense 0.00000824●●●●●●
102. 23896983 c.1699C>T p.R567C missense 0.00000824●●●●●●
103. 23896982 c.1700G>A p.R567H missense 0.00001647●●●●●●
104. 23896980 c.1702A>G p.N568D missense 0.00000824●●●●●●
105. 23896973 c.1709A>G p.K570R missense 0.00001647●●●●●●
106. 23896955 c.1727A>G p.H576R missense 0.00000824●●●●●●
107. 23896953 c.1729T>C p.F577L missense 0.00000824●●●●●●
108. 23896952 c.1730T>C p.F577S missense 0.00000824●●●●●●
109. 23896928 c.1754T>C p.I585T missense 0.00000824●●●●●●
110. 23896926 c.1756G>A p.V586M missense 0.00000824●●●●●●
111. 23896916 c.1766A>G p.N589S missense 0.00000824●●●●●●
112. 23896910 c.1772T>C p.I591T missense 0.00000824●●●●●●
113. 23896894 c.1788G>C p.K596N missense 0.00000824●●●●●●
114. 23896826 c.1856C>T p.T619I missense 0.00003302●●●●●●
115. 23896823 c.1859T>A p.L620Q missense 0.00000826●●●●●●
116. 23896794 c.1888C>T p.P630S missense 0.00001691●●●●●●
117. 23896793 c.1888+1G>A essential splice site 0.00000848●●●●●●
118. 23896513 c.1892T>C p.I631T missense 0.00001654●●●●●●
119. 23896511 c.1894G>T p.E632X nonsense 0.00000827●●●●●●
120. 23896509 c.1896G>T p.E632D missense 0.00000827●●●●●●
121. 23896492 c.1913C>T p.A638V missense 0.00000827●●●●●●
122. 23896451 c.1954A>G p.R652G missense 0.00000829●●●●●●
123. 23896059 c.1971G>T p.K657N missense 0.00000825●●●●●●
124. 23896055 c.1975A>G p.M659V missense 0.00000825●●●●●●
125. 23896042 c.1988G>A p.R663H missense 0.00001648●●●●●●
126. 23896033 c.1997A>G p.H666R missense 0.00000824●●●●●●
127. 23895986 c.2044G>A p.G682R missense 0.00000825●●●●●●
128. 23895283 c.2052G>A p.M684I missense 0.00000840●●●●●●
129. 23895275 c.2060C>A p.P687H missense 0.00003343●●●●●●
130. 23895255 c.2080C>T p.R694C missense 0.00001659●●●●●●
131. 23895201 c.2134C>T p.R712C missense 0.00000824●●●●●●
132. 23895172 c.2162+1G>A essential splice site 0.00000824●●●●●●
133. 23895028 c.2163-1G>T essential splice site 0.00000824●●●●●●
134. 23895023 c.2167C>T p.R723C missense 0.00002471●●●●●●
135. 23895013 c.2177A>G p.N726S missense 0.00000824●●●●●●
136. 23894984 c.2206A>G p.I736V missense 0.00000824●●●●●●
137. 23894927 c.2263C>T p.Q755X nonsense 0.00000824●●●●●●
138. 23894602 c.2312G>C p.G771A missense 0.00000825●●●●●●
139. 23894567 c.2347C>T p.R783C missense 0.00000824●●●●●●
140. 23894566 c.2348G>A p.R783H missense 0.00001648●●●●●●
141. 23894557 c.2357C>T p.T786M missense 0.00001648●●●●●●
142. 23894555 c.2359C>T p.R787C missense 0.00005767●●●●●●
143. 23894543 c.2371C>A p.Q791K missense 0.00000824●●●●●●
144. 23894525 c.2389G>A p.A797T missense 0.00003296●●●●●●
145. 23894514 c.2400G>T p.E800D missense 0.00000824●●●●●●
146. 23894494 c.2420G>A p.R807H missense 0.00000824●●●●●●
147. 23894232 c.2425G>T p.D809Y missense 0.00004950●●●●●●
148. 23894205 c.2452A>G p.I818V missense 0.00000824●●●●●●
149. 23894201 c.2456G>A p.R819Q missense 0.00000824●●●●●●
150. 23894187 c.2470delG p.Val824SerfsTer7 frameshift 0.00000824●●●●●●
151. 23894096 c.2561A>C p.E854A missense 0.00000824●●●●●●
152. 23894084 c.2573G>A p.R858H missense 0.00000824●●●●●●
153. 23894084 c.2573G>T p.R858L missense 0.00000824●●●●●●
154. 23894072 c.2585C>T p.A862V missense 0.00003295●●●●●●
155. 23894063 c.2594A>G p.K865R missense 0.00000824●●●●●●
156. 23894058 c.2599G>A p.E867K missense 0.00001648●●●●●●
157. 23894051 c.2606G>A p.R869H missense 0.00003295●●●●●●
158. 23894049 c.2608C>T p.R870C missense 0.00000824●●●●●●
159. 23894021 c.2636C>A p.S879Y missense 0.00001648●●●●●●
160. 23893992 c.2665C>T p.L889F missense 0.00000824●●●●●●
161. 23893980 c.2677G>A p.A893T missense 0.00000824●●●●●●
162. 23893360 c.2680-2A>G essential splice site 0.00000825●●●●●●
163. 23893357 c.2681A>T p.E894V missense 0.00000825●●●●●●
164. 23893349 c.2689A>C p.N897H missense 0.00000824●●●●●●
165. 23893328 c.2710C>T p.R904C missense 0.00000824●●●●●●
166. 23893289 c.2749G>A p.A917T missense 0.00000824●●●●●●
167. 23893277 c.2761G>T p.E921X nonsense 0.00000824●●●●●●
168. 23893276 c.2762A>C p.E921A missense 0.00000824●●●●●●
169. 23893273 c.2765T>C p.M922T missense 0.00001647●●●●●●
170. 23893272 c.2766G>T p.M922I missense 0.00000824●●●●●●
171. 23893262 c.2776C>G p.L926V missense 0.00001647●●●●●●
172. 23893251 c.2787G>C p.E929D missense 0.00001647●●●●●●
173. 23893234 c.2804A>T p.E935V missense 0.00001647●●●●●●
174. 23893226 c.2812G>T p.A938S missense 0.00000824●●●●●●
175. 23893217 c.2821C>A p.R941S missense 0.00000824●●●●●●
176. 23893216 c.2822G>A p.R941H missense 0.00001647●●●●●●
177. 23893192 c.2846A>T p.E949V missense 0.00000824●●●●●●
178. 23893147 c.2891T>C p.V964A missense 0.00000824●●●●●●
179. 23893115 c.2922+1G>A essential splice site 0.00000824●●●●●●
180. 23892887 c.2968G>A p.A990T missense 0.00000824●●●●●●
181. 23892883 c.2972A>G p.K991R missense 0.00000824●●●●●●
182. 23892881 c.2974C>A p.L992M missense 0.00001647●●●●●●
183. 23892873 c.2982G>C p.K994N missense 0.00000824●●●●●●
184. 23892850 c.3005C>T p.A1002V missense 0.00000824●●●●●●
185. 23892845 c.3010C>G p.Q1004E missense 0.00000824●●●●●●
186. 23892827 c.3028C>T p.L1010F missense 0.00000824●●●●●●
187. 23892820 c.3035C>A p.A1012D missense 0.00004118●●●●●●
188. 23892818 c.3037G>A p.E1013K missense 0.00001647●●●●●●
189. 23892815 c.3040G>A p.E1014K missense 0.00000824●●●●●●
190. 23892809 c.3046A>G p.K1016E missense 0.00000824●●●●●●
191. 23892805 c.3050T>C p.V1017A missense 0.00000824●●●●●●
192. 23892799 c.3056C>A p.T1019N missense 0.00000824●●●●●●
193. 23892797 c.3058C>A p.L1020M missense 0.00001647●●●●●●
194. 23892787 c.3068C>T p.A1023V missense 0.00000824●●●●●●
195. 23892766 c.3089A>G p.Q1030R missense 0.00000824●●●●●●
196. 23892761 c.3094G>A p.D1032N missense 0.00001647●●●●●●
197. 23891536 c.3100-2A>C essential splice site 0.00000824●●●●●●
198. 23891501 c.3133C>T p.R1045C missense 0.00001648●●●●●●
199. 23891500 c.3134G>A p.R1045H missense 0.00003295●●●●●●
200. 23891500 c.3134G>T p.R1045L missense 0.00001648●●●●●●
201. 23891497 c.3137T>G p.M1046R missense 0.00000824●●●●●●
202. 23891496 c.3138G>A p.M1046I missense 0.00002471●●●●●●
203. 23891485 c.3149G>C p.R1050P missense 0.00000824●●●●●●
204. 23891482 c.3152C>T p.A1051V missense 0.00001647●●●●●●
205. 23891476 c.3158G>A p.R1053Q missense 0.00007414●●●●●●
206. 23891466 c.3168G>C p.E1056D missense 0.00000824●●●●●●
207. 23891465 c.3169G>A p.G1057S missense 0.00000824●●●●●●
208. 23891438 c.3196A>G p.I1066V missense 0.00000824●●●●●●
209. 23891434 c.3200T>C p.M1067T missense 0.00001648●●●●●●
210. 23891426 c.3208G>A p.E1070K missense 0.00000824●●●●●●
211. 23891405 c.3229G>T p.D1077Y missense 0.00000824●●●●●●
212. 23891399 c.3235C>T p.R1079W missense 0.00004944●●●●●●
213. 23891398 c.3236G>A p.R1079Q missense 0.00000824●●●●●●
214. 23890235 c.3268C>G p.L1090V missense 0.00001649●●●●●●
215. 23890229 c.3274G>A p.A1092T missense 0.00001649●●●●●●
216. 23890220 c.3283G>A p.E1095K missense 0.00000824●●●●●●
217. 23890209 c.3294G>C p.Q1098H missense 0.00000824●●●●●●
218. 23890202 c.3301G>A p.G1101S missense 0.00006593●●●●●●
219. 23890185 c.3318G>T p.K1106N missense 0.00000824●●●●●●
220. 23889431 c.3349G>T p.E1117X nonsense 0.00000974●●●●●●
221. 23889430 c.3350A>T p.E1117V missense 0.00000976●●●●●●
222. 23889404 c.3376C>T p.R1126C missense 0.00001022●●●●●●
223. 23889287 c.3493A>G p.K1165E missense 0.00001267●●●●●●
224. 23888815 c.3730A>C p.N1244H missense 0.00000824●●●●●●
225. 23888796 c.3749G>A p.R1250Q missense 0.00000824●●●●●●
226. 23888796 c.3749G>C p.R1250P missense 0.00000824●●●●●●
227. 23888768 c.3777C>A p.H1259Q missense 0.00002471●●●●●●
228. 23888767 c.3778C>T p.R1260W missense 0.00000824●●●●●●
229. 23888766 c.3779G>A p.R1260Q missense 0.00003295●●●●●●
230. 23888763 c.3782G>A p.S1261N missense 0.00000824●●●●●●
231. 23888757 c.3788C>A p.A1263E missense 0.00000824●●●●●●
232. 23888748 c.3797C>A p.T1266N missense 0.00000824●●●●●●
233. 23888744 c.3801G>C p.Q1267H missense 0.00003295●●●●●●
234. 23888742 c.3803G>A p.R1268H missense 0.00008237●●●●●●
235. 23888736 c.3809T>C p.V1270A missense 0.00000824●●●●●●
236. 23888731 c.3814G>A p.D1272N missense 0.00002471●●●●●●
237. 23888716 c.3829C>T p.R1277W missense 0.00001647●●●●●●
238. 23888715 c.3830G>A p.R1277Q missense 0.00004118●●●●●●
239. 23888691 c.3853+1G>A essential splice site 0.00001647●●●●●●
240. 23888502 c.3856G>A p.E1286K missense 0.00001647●●●●●●
241. 23888475 c.3883G>A p.E1295K missense 0.00000824●●●●●●
242. 23888450 c.3908G>A p.R1303Q missense 0.00000824●●●●●●
243. 23888427 c.3931C>T p.Q1311X nonsense 0.00000824●●●●●●
244. 23888411 c.3947_3948insA p.Arg1317GlufsTer8 frameshift 0.00000824●●●●●●
245. 23887614 c.3974C>T p.A1325V missense 0.00002618●●●●●●
246. 23887614 c.3974C>G p.A1325G missense 0.00000873●●●●●●
247. 23887611 c.3977A>G p.K1326R missense 0.00001734●●●●●●
248. 23887606 c.3982G>A p.A1328T missense 0.00004312●●●●●●
249. 23887594 c.3994G>A p.A1332T missense 0.00001699●●●●●●
250. 23887585 c.4003T>G p.S1335A missense 0.00000842●●●●●●
251. 23887584 c.4004C>T p.S1335L missense 0.00003364●●●●●●
252. 23887579 c.4009C>T p.R1337W missense 0.00000838●●●●●●
253. 23887570 c.4018T>C p.C1340R missense 0.00000832●●●●●●
254. 23887567 c.4021G>A p.D1341N missense 0.00000831●●●●●●
255. 23887567 c.4021G>T p.D1341Y missense 0.00000831●●●●●●
256. 23887565 c.4023C>A p.D1341E missense 0.00000830●●●●●●
257. 23887558 c.4030C>T p.R1344W missense 0.00001659●●●●●●
258. 23887548 c.4040A>G p.Y1347C missense 0.00000827●●●●●●
259. 23887536 c.4052C>T p.T1351M missense 0.00003304●●●●●●
260. 23887527 c.4061A>G p.K1354R missense 0.00000825●●●●●●
261. 23887525 c.4063G>A p.A1355T missense 0.00000825●●●●●●
262. 23887513 c.4075C>T p.R1359C missense 0.00000825●●●●●●
263. 23887512 c.4076G>A p.R1359H missense 0.00003299●●●●●●
264. 23887510 c.4078G>A p.V1360I missense 0.00005773●●●●●●
265. 23887498 c.4090G>A p.A1364T missense 0.00004122●●●●●●
266. 23887491 c.4097C>T p.S1366L missense 0.00002473●●●●●●
267. 23887447 c.4141C>G p.Q1381E missense 0.00000824●●●●●●
268. 23887429 c.4159G>C p.E1387Q missense 0.00000824●●●●●●
269. 23886885 c.4180G>A p.A1394T missense 0.00000829●●●●●●
270. 23886878 c.4187G>A p.R1396Q missense 0.00000827●●●●●●
271. 23886869 c.4196A>G p.E1399G missense 0.00000825●●●●●●
272. 23886855 c.4210G>A p.V1404M missense 0.00001648●●●●●●
273. 23886849 c.4216G>A p.A1406T missense 0.00000824●●●●●●
274. 23886846 c.4219G>A p.V1407I missense 0.00001648●●●●●●
275. 23886827 c.4238C>T p.S1413L missense 0.00001648●●●●●●
276. 23886807 c.4258C>T p.R1420W missense 0.00000824●●●●●●
277. 23886782 c.4283T>C p.L1428S missense 0.00003295●●●●●●
278. 23886779 c.4286T>C p.M1429T missense 0.00000824●●●●●●
279. 23886773 c.4292A>G p.D1431G missense 0.00000824●●●●●●
280. 23886771 c.4294G>A p.V1432I missense 0.00004942●●●●●●
281. 23886764 c.4301G>A p.R1434H missense 0.00001648●●●●●●
282. 23886744 c.4321G>T p.A1441S missense 0.00000824●●●●●●
283. 23886717 c.4348G>A p.D1450N missense 0.00000824●●●●●●
284. 23886509 c.4372C>G p.Q1458E missense 0.00000826●●●●●●
285. 23886491 c.4390C>T p.Q1464X nonsense 0.00000825●●●●●●
286. 23886458 c.4423C>T p.R1475C missense 0.00008239●●●●●●
287. 23886446 c.4435A>G p.T1479A missense 0.00002471●●●●●●
288. 23886440 c.4441C>T p.L1481F missense 0.00000824●●●●●●
289. 23886422 c.4459G>A p.A1487T missense 0.00001647●●●●●●
290. 23886410 c.4471T>A p.S1491T missense 0.00000824●●●●●●
291. 23886400 c.4481A>T p.H1494L missense 0.00001647●●●●●●
292. 23886394 c.4487A>C p.E1496A missense 0.00002471●●●●●●
293. 23886382 c.4499G>A p.R1500Q missense 0.00002471●●●●●●
294. 23886196 c.4525A>C p.I1509L missense 0.00001647●●●●●●
295. 23886185 c.4536G>C p.L1512F missense 0.00000824●●●●●●
296. 23886176 c.4545G>C p.Q1515H missense 0.00001647●●●●●●
297. 23886168 c.4553C>A p.S1518Y missense 0.00000824●●●●●●
298. 23886163 c.4558G>A p.G1520R missense 0.00000824●●●●●●
299. 23886150 c.4571A>C p.H1524P missense 0.00001648●●●●●●
300. 23886133 c.4588C>G p.R1530G missense 0.00000824●●●●●●
301. 23886133 c.4588C>T p.R1530X nonsense 0.00000824●●●●●●
302. 23886132 c.4589G>A p.R1530Q missense 0.00000824●●●●●●
303. 23886118 c.4603G>A p.A1535T missense 0.00000825●●●●●●
304. 23886115 c.4606G>A p.E1536K missense 0.00000825●●●●●●
305. 23885510 c.4656G>T p.E1552D missense 0.00000836●●●●●●
306. 23885506 c.4660G>C p.E1554Q missense 0.00001669●●●●●●
307. 23885494 c.4672A>T p.I1558F missense 0.00000830●●●●●●
308. 23885488 c.4678C>T p.R1560W missense 0.00000829●●●●●●
309. 23885487 c.4679G>A p.R1560Q missense 0.00000828●●●●●●
310. 23885479 c.4687C>G p.L1563V missense 0.00001654●●●●●●
311. 23885459 c.4707G>C p.K1569N missense 0.00000825●●●●●●
312. 23885457 c.4709C>A p.A1570E missense 0.00001649●●●●●●
313. 23885449 c.4717G>A p.E1573K missense 0.00008241●●●●●●
314. 23885445 c.4721G>A p.R1574Q missense 0.00002472●●●●●●
315. 23885415 c.4751A>G p.E1584G missense 0.00000824●●●●●●
316. 23885386 c.4780G>C p.V1594L missense 0.00000824●●●●●●
317. 23885380 c.4786T>C p.S1596P missense 0.00000824●●●●●●
318. 23885379 c.4787C>T p.S1596L missense 0.00004118●●●●●●
319. 23885349 c.4817G>A p.R1606H missense 0.00004942●●●●●●
320. 23885345 c.4821C>A p.S1607R missense 0.00000824●●●●●●
321. 23885343 c.4823G>A p.R1608H missense 0.00002471●●●●●●
322. 23885343 c.4823G>T p.R1608L missense 0.00000824●●●●●●
323. 23885335 c.4831G>T p.A1611S missense 0.00000824●●●●●●
324. 23885305 c.4861G>A p.D1621N missense 0.00000824●●●●●●
325. 23885272 c.4894G>A p.A1632T missense 0.00004118●●●●●●
326. 23885263 c.4903A>G p.M1635V missense 0.00001647●●●●●●
327. 23885262 c.4904T>C p.M1635T missense 0.00002471●●●●●●
328. 23885257 c.4909G>A p.A1637T missense 0.00005766●●●●●●
329. 23885247 c.4919A>T p.Q1640L missense 0.00003295●●●●●●
330. 23885225 c.4941G>C p.Q1647H missense 0.00000824●●●●●●
331. 23885223 c.4943G>A p.S1648N missense 0.00000824●●●●●●
332. 23885217 c.4949T>C p.L1650S missense 0.00003295●●●●●●
333. 23885041 c.4954G>T p.D1652Y missense 0.00002475●●●●●●
334. 23885041 c.4954G>A p.D1652N missense 0.00000825●●●●●●
335. 23885020 c.4975G>A p.D1659N missense 0.00000824●●●●●●
336. 23885011 c.4984C>T p.R1662C missense 0.00000824●●●●●●
337. 23885010 c.4985G>A p.R1662H missense 0.00005769●●●●●●
338. 23885003 c.4992C>A p.N1664K missense 0.00002472●●●●●●
339. 23885002 c.4993G>A p.D1665N missense 0.00000824●●●●●●
340. 23884999 c.4996G>A p.D1666N missense 0.00000824●●●●●●
341. 23884982 c.5013C>G p.I1671M missense 0.00001648●●●●●●
342. 23884981 c.5014G>A p.A1672T missense 0.00003295●●●●●●
343. 23884978 c.5017A>G p.I1673V missense 0.00000824●●●●●●
344. 23884975 c.5020G>A p.V1674M missense 0.00002471●●●●●●
345. 23884969 c.5026C>T p.R1676W missense 0.00000824●●●●●●
346. 23884966 c.5029C>T p.R1677C missense 0.00001648●●●●●●
347. 23884965 c.5030G>A p.R1677H missense 0.00004943●●●●●●
348. 23884963 c.5032A>C p.N1678H missense 0.00000824●●●●●●
349. 23884956 c.5039T>C p.L1680P missense 0.00000824●●●●●●
350. 23884941 c.5054T>A p.L1685Q missense 0.00000824●●●●●●
351. 23884930 c.5065C>T p.R1689C missense 0.00002471●●●●●●
352. 23884930 c.5065C>G p.R1689G missense 0.00001648●●●●●●
353. 23884929 c.5066G>A p.R1689H missense 0.00001648●●●●●●
354. 23884924 c.5071G>A p.V1691M missense 0.00008238●●●●●●
355. 23884921 c.5074G>T p.V1692L missense 0.00000824●●●●●●
356. 23884907 c.5088G>C p.E1696D missense 0.00002471●●●●●●
357. 23884905 c.5090G>A p.R1697Q missense 0.00002471●●●●●●
358. 23884890 c.5105C>A p.A1702E missense 0.00000824●●●●●●
359. 23884890 c.5105C>T p.A1702V missense 0.00000824●●●●●●
360. 23884876 c.5119A>T p.I1707F missense 0.00000824●●●●●●
361. 23884865 c.5130T>G p.S1710R missense 0.00000824●●●●●●
362. 23884860 c.5135G>A p.R1712Q missense 0.00000824●●●●●●
363. 23884686 c.5187G>T p.K1729N missense 0.00000824●●●●●●
364. 23884672 c.5201T>G p.L1734R missense 0.00001647●●●●●●
365. 23884670 c.5203T>A p.S1735T missense 0.00003295●●●●●●
366. 23884651 c.5222T>C p.V1741A missense 0.00000824●●●●●●
367. 23884644 c.5229G>T p.E1743D missense 0.00002471●●●●●●
368. 23884643 c.5230G>T p.A1744S missense 0.00000824●●●●●●
369. 23884642 c.5231C>A p.A1744E missense 0.00000824●●●●●●
370. 23884642 c.5231C>T p.A1744V missense 0.00001647●●●●●●
371. 23884639 c.5234T>C p.V1745A missense 0.00000824●●●●●●
372. 23884630 c.5243G>A p.C1748Y missense 0.00004942●●●●●●
373. 23884616 c.5257G>A p.E1753K missense 0.00000824●●●●●●
374. 23884594 c.5279C>T p.T1760M missense 0.00001647●●●●●●
375. 23884589 c.5283+1G>A essential splice site 0.00000824●●●●●●
376. 23884476 c.5287G>A p.A1763T missense 0.00004118●●●●●●
377. 23884475 c.5288C>T p.A1763V missense 0.00000824●●●●●●
378. 23884470 c.5293A>G p.M1765V missense 0.00000824●●●●●●
379. 23884460 c.5303A>T p.E1768V missense 0.00000824●●●●●●
380. 23884458 c.5305C>A p.L1769M missense 0.00000824●●●●●●
381. 23884437 c.5326A>G p.S1776G missense 0.00003295●●●●●●
382. 23884434 c.5329G>A p.A1777T missense 0.00004118●●●●●●
383. 23884421 c.5342G>A p.R1781H missense 0.00000824●●●●●●
384. 23884415 c.5348A>G p.K1783R missense 0.00000824●●●●●●
385. 23884400 c.5363A>G p.Q1788R missense 0.00000824●●●●●●
386. 23884394 c.5369T>C p.I1790T missense 0.00000824●●●●●●
387. 23884389 c.5374G>A p.D1792N missense 0.00000824●●●●●●
388. 23884377 c.5386C>T p.R1796W missense 0.00000824●●●●●●
389. 23884344 c.5419G>A p.G1807S missense 0.00000824●●●●●●
390. 23884341 c.5422G>A p.G1808S missense 0.00003295●●●●●●
391. 23884315 c.5448A>C p.E1816D missense 0.00000824●●●●●●
392. 23884311 c.5452C>T p.R1818W missense 0.00001648●●●●●●
393. 23884305 c.5458C>G p.R1820G missense 0.00002472●●●●●●
394. 23884305 c.5458C>T p.R1820W missense 0.00002472●●●●●●
395. 23884304 c.5459G>A p.R1820Q missense 0.00000824●●●●●●
396. 23884296 c.5467G>C p.E1823Q missense 0.00000824●●●●●●
397. 23884278 c.5485G>A p.E1829K missense 0.00002472●●●●●●
398. 23884269 c.5494C>T p.R1832C missense 0.00004946●●●●●●
399. 23884269 c.5494C>G p.R1832G missense 0.00000824●●●●●●
400. 23884268 c.5495G>A p.R1832H missense 0.00003297●●●●●●
401. 23884265 c.5498A>G p.N1833S missense 0.00000824●●●●●●
402. 23884263 c.5500G>A p.A1834T missense 0.00004947●●●●●●
403. 23884263 c.5500G>T p.A1834S missense 0.00001649●●●●●●
404. 23884260 c.5503G>C p.E1835Q missense 0.00000825●●●●●●
405. 23884259 c.5504_5505delAG p.E1835Vfs*70 frameshift 0.00000825●●●●●●
406. 23884256 c.5507C>T p.S1836L missense 0.00004949●●●●●●
407. 23884256 c.5507C>G p.S1836W missense 0.00001650●●●●●●
408. 23884233 c.5530G>A p.E1844K missense 0.00000826●●●●●●
409. 23884227 c.5536C>T p.R1846C missense 0.00001653●●●●●●
410. 23884226 c.5537G>A p.R1846H missense 0.00000826●●●●●●
411. 23883310 c.5561C>T p.T1854M missense 0.00003302●●●●●●
412. 23883284 c.5587C>T p.R1863W missense 0.00000824●●●●●●
413. 23883283 c.5588G>A p.R1863Q missense 0.00000824●●●●●●
414. 23883269 c.5602G>C p.V1868L missense 0.00000824●●●●●●
415. 23883265 c.5606A>G p.D1869G missense 0.00000824●●●●●●
416. 23883098 c.5660A>G p.E1887G missense 0.00000824●●●●●●
417. 23883071 c.5687T>C p.F1896S missense 0.00000824●●●●●●
418. 23883069 c.5689C>T p.R1897C missense 0.00001647●●●●●●
419. 23883062 c.5696T>C p.V1899A missense 0.00000824●●●●●●
420. 23883059 c.5699A>T p.Q1900L missense 0.00000824●●●●●●
421. 23883054 c.5704G>C p.E1902Q missense 0.00007413●●●●●●
422. 23883054 c.5704G>A p.E1902K missense 0.00001647●●●●●●
423. 23883033 c.5725C>T p.R1909W missense 0.00003295●●●●●●
424. 23883032 c.5726G>A p.R1909Q missense 0.00000824●●●●●●
425. 23883021 c.5737G>A p.A1913T missense 0.00000824●●●●●●
426. 23882997 c.5761C>T p.R1921W missense 0.00000824●●●●●●
427. 23882984 c.5774G>A p.R1925H missense 0.00000824●●●●●●
428. 23882979 c.5779A>T p.I1927F missense 0.00003297●●●●●●
429. 23882975 c.5783G>A p.G1928D missense 0.00000824●●●●●●
430. 23882972 c.5786C>T p.T1929M missense 0.00002474●●●●●●
431. 23882967 c.5790+1G>A essential splice site 0.00000825●●●●●●
432. 23882071 c.5800G>A p.E1934K missense 0.00002480●●●●●●

* 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.