MYH7 missense variants in ExAC

MYH7 gene summary
MYH7 variants in HCM, DCM

The table below lists the MYH7 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. 23886409 c.4472C>G p.S1491C missense 0.00746219●●●●●●
2. 23892910 c.2945T>C p.M982T missense 0.00090601●●●●●●
3. 23902865 c.77C>T p.A26V missense 0.00056870●●●●●●
4. 23893148 c.2890G>C p.V964L missense 0.00042006●●●●●●
5. 23886504 c.4377G>T p.K1459N missense 0.00030546●●●●●●
6. 23888775 c.3770A>G p.N1257S missense 0.00030477●●●●●●
7. 23894554 c.2360G>A p.R787H missense 0.00022244●●●●●●
8. 23886482 c.4399C>G p.L1467V missense 0.00015668●●●●●●
9. 23890217 c.3286G>T p.D1096Y missense 0.00015659●●●●●●
10. 23887578 c.4010G>A p.R1337Q missense 0.00015064●●●●●●
11. 23898249 c.1322C>T p.T441M missense 0.00013179●●●●●●
12. 23886722 c.4343A>T p.N1448I missense 0.00011537●●●●●●
13. 23891518 c.3116A>G p.E1039G missense 0.00011534●●●●●●
14. 23898310 c.1261A>G p.I421V missense 0.00010707●●●●●●
15. 23887607 c.3981C>A p.N1327K missense 0.00010347●●●●●●
16. 23885449 c.4717G>A p.E1573K missense 0.00008241●●●●●●
17. 23886458 c.4423C>T p.R1475C missense 0.00008239●●●●●●
18. 23884924 c.5071G>A p.V1691M missense 0.00008238●●●●●●
19. 23888742 c.3803G>A p.R1268H missense 0.00008237●●●●●●
20. 23899800 c.968T>C p.I323T missense 0.00007549●●●●●●
21. 23902914 c.28G>C p.G10R missense 0.00007434●●●●●●
22. 23891476 c.3158G>A p.R1053Q missense 0.00007414●●●●●●
23. 23883054 c.5704G>C p.E1902Q missense 0.00007413●●●●●●
24. 23899792 c.976G>C p.A326P missense 0.00006783●●●●●●
25. 23890202 c.3301G>A p.G1101S missense 0.00006593●●●●●●
26. 23887510 c.4078G>A p.V1360I missense 0.00005773●●●●●●
27. 23885010 c.4985G>A p.R1662H missense 0.00005769●●●●●●
28. 23902827 c.115G>A p.V39M missense 0.00005768●●●●●●
29. 23894555 c.2359C>T p.R787C missense 0.00005767●●●●●●
30. 23885257 c.4909G>A p.A1637T missense 0.00005766●●●●●●
31. 23894232 c.2425G>T p.D809Y missense 0.00004950●●●●●●
32. 23884256 c.5507C>T p.S1836L missense 0.00004949●●●●●●
33. 23884263 c.5500G>A p.A1834T missense 0.00004947●●●●●●
34. 23884269 c.5494C>T p.R1832C missense 0.00004946●●●●●●
35. 23891399 c.3235C>T p.R1079W missense 0.00004944●●●●●●
36. 23884965 c.5030G>A p.R1677H missense 0.00004943●●●●●●
37. 23901923 c.427C>T p.R143W missense 0.00004942●●●●●●
38. 23886771 c.4294G>A p.V1432I missense 0.00004942●●●●●●
39. 23884630 c.5243G>A p.C1748Y missense 0.00004942●●●●●●
40. 23885349 c.4817G>A p.R1606H missense 0.00004942●●●●●●
41. 23887606 c.3982G>A p.A1328T missense 0.00004312●●●●●●
42. 23902000 c.350A>T p.Y117F missense 0.00004127●●●●●●
43. 23887498 c.4090G>A p.A1364T missense 0.00004122●●●●●●
44. 23902427 c.211G>A p.V71M missense 0.00004119●●●●●●
45. 23897001 c.1681G>A p.A561T missense 0.00004118●●●●●●
46. 23884434 c.5329G>A p.A1777T missense 0.00004118●●●●●●
47. 23888715 c.3830G>A p.R1277Q missense 0.00004118●●●●●●
48. 23884476 c.5287G>A p.A1763T missense 0.00004118●●●●●●
49. 23885272 c.4894G>A p.A1632T missense 0.00004118●●●●●●
50. 23885379 c.4787C>T p.S1596L missense 0.00004118●●●●●●
51. 23892820 c.3035C>A p.A1012D missense 0.00004118●●●●●●
52. 23887584 c.4004C>T p.S1335L missense 0.00003364●●●●●●
53. 23895275 c.2060C>A p.P687H missense 0.00003343●●●●●●
54. 23887536 c.4052C>T p.T1351M missense 0.00003304●●●●●●
55. 23883310 c.5561C>T p.T1854M missense 0.00003302●●●●●●
56. 23896826 c.1856C>T p.T619I missense 0.00003302●●●●●●
57. 23887512 c.4076G>A p.R1359H missense 0.00003299●●●●●●
58. 23882979 c.5779A>T p.I1927F missense 0.00003297●●●●●●
59. 23884268 c.5495G>A p.R1832H missense 0.00003297●●●●●●
60. 23894525 c.2389G>A p.A797T missense 0.00003296●●●●●●
61. 23894051 c.2606G>A p.R869H missense 0.00003295●●●●●●
62. 23891500 c.3134G>A p.R1045H missense 0.00003295●●●●●●
63. 23884437 c.5326A>G p.S1776G missense 0.00003295●●●●●●
64. 23884670 c.5203T>A p.S1735T missense 0.00003295●●●●●●
65. 23894072 c.2585C>T p.A862V missense 0.00003295●●●●●●
66. 23888744 c.3801G>C p.Q1267H missense 0.00003295●●●●●●
67. 23884341 c.5422G>A p.G1808S missense 0.00003295●●●●●●
68. 23884981 c.5014G>A p.A1672T missense 0.00003295●●●●●●
69. 23883033 c.5725C>T p.R1909W missense 0.00003295●●●●●●
70. 23885217 c.4949T>C p.L1650S missense 0.00003295●●●●●●
71. 23885247 c.4919A>T p.Q1640L missense 0.00003295●●●●●●
72. 23886782 c.4283T>C p.L1428S missense 0.00003295●●●●●●
73. 23888766 c.3779G>A p.R1260Q missense 0.00003295●●●●●●
74. 23887614 c.3974C>T p.A1325V missense 0.00002618●●●●●●
75. 23899843 c.925G>A p.D309N missense 0.00002486●●●●●●
76. 23902925 c.17T>C p.M6T missense 0.00002482●●●●●●
77. 23882071 c.5800G>A p.E1934K missense 0.00002480●●●●●●
78. 23885041 c.4954G>T p.D1652Y missense 0.00002475●●●●●●
79. 23882972 c.5786C>T p.T1929M missense 0.00002474●●●●●●
80. 23887491 c.4097C>T p.S1366L missense 0.00002473●●●●●●
81. 23902875 c.67C>T p.R23W missense 0.00002473●●●●●●
82. 23884278 c.5485G>A p.E1829K missense 0.00002472●●●●●●
83. 23884305 c.5458C>G p.R1820G missense 0.00002472●●●●●●
84. 23884305 c.5458C>T p.R1820W missense 0.00002472●●●●●●
85. 23885003 c.4992C>A p.N1664K missense 0.00002472●●●●●●
86. 23885445 c.4721G>A p.R1574Q missense 0.00002472●●●●●●
87. 23902310 c.328G>A p.G110S missense 0.00002472●●●●●●
88. 23900977 c.632C>T p.P211L missense 0.00002471●●●●●●
89. 23898993 c.1129G>A p.G377S missense 0.00002471●●●●●●
90. 23895023 c.2167C>T p.R723C missense 0.00002471●●●●●●
91. 23886394 c.4487A>C p.E1496A missense 0.00002471●●●●●●
92. 23884644 c.5229G>T p.E1743D missense 0.00002471●●●●●●
93. 23885262 c.4904T>C p.M1635T missense 0.00002471●●●●●●
94. 23891496 c.3138G>A p.M1046I missense 0.00002471●●●●●●
95. 23884907 c.5088G>C p.E1696D missense 0.00002471●●●●●●
96. 23901869 c.481G>A p.A161T missense 0.00002471●●●●●●
97. 23884905 c.5090G>A p.R1697Q missense 0.00002471●●●●●●
98. 23884930 c.5065C>T p.R1689C missense 0.00002471●●●●●●
99. 23884975 c.5020G>A p.V1674M missense 0.00002471●●●●●●
100. 23885343 c.4823G>A p.R1608H missense 0.00002471●●●●●●
101. 23886382 c.4499G>A p.R1500Q missense 0.00002471●●●●●●
102. 23886446 c.4435A>G p.T1479A missense 0.00002471●●●●●●
103. 23888731 c.3814G>A p.D1272N missense 0.00002471●●●●●●
104. 23888768 c.3777C>A p.H1259Q missense 0.00002471●●●●●●
105. 23899077 c.1045A>G p.M349V missense 0.00002471●●●●●●
106. 23900999 c.610C>T p.R204C missense 0.00002471●●●●●●
107. 23887611 c.3977A>G p.K1326R missense 0.00001734●●●●●●
108. 23887594 c.3994G>A p.A1332T missense 0.00001699●●●●●●
109. 23896794 c.1888C>T p.P630S missense 0.00001691●●●●●●
110. 23885506 c.4660G>C p.E1554Q missense 0.00001669●●●●●●
111. 23895255 c.2080C>T p.R694C missense 0.00001659●●●●●●
112. 23887558 c.4030C>T p.R1344W missense 0.00001659●●●●●●
113. 23902931 c.11C>T p.S4L missense 0.00001656●●●●●●
114. 23885479 c.4687C>G p.L1563V missense 0.00001654●●●●●●
115. 23896513 c.1892T>C p.I631T missense 0.00001654●●●●●●
116. 23884227 c.5536C>T p.R1846C missense 0.00001653●●●●●●
117. 23884256 c.5507C>G p.S1836W missense 0.00001650●●●●●●
118. 23890235 c.3268C>G p.L1090V missense 0.00001649●●●●●●
119. 23884263 c.5500G>T p.A1834S missense 0.00001649●●●●●●
120. 23885457 c.4709C>A p.A1570E missense 0.00001649●●●●●●
121. 23890229 c.3274G>A p.A1092T missense 0.00001649●●●●●●
122. 23902781 c.161G>A p.R54Q missense 0.00001649●●●●●●
123. 23896042 c.1988G>A p.R663H missense 0.00001648●●●●●●
124. 23894566 c.2348G>A p.R783H missense 0.00001648●●●●●●
125. 23891501 c.3133C>T p.R1045C missense 0.00001648●●●●●●
126. 23894021 c.2636C>A p.S879Y missense 0.00001648●●●●●●
127. 23884966 c.5029C>T p.R1677C missense 0.00001648●●●●●●
128. 23886855 c.4210G>A p.V1404M missense 0.00001648●●●●●●
129. 23891434 c.3200T>C p.M1067T missense 0.00001648●●●●●●
130. 23894058 c.2599G>A p.E867K missense 0.00001648●●●●●●
131. 23884311 c.5452C>T p.R1818W missense 0.00001648●●●●●●
132. 23884929 c.5066G>A p.R1689H missense 0.00001648●●●●●●
133. 23884930 c.5065C>G p.R1689G missense 0.00001648●●●●●●
134. 23884982 c.5013C>G p.I1671M missense 0.00001648●●●●●●
135. 23886150 c.4571A>C p.H1524P missense 0.00001648●●●●●●
136. 23886764 c.4301G>A p.R1434H missense 0.00001648●●●●●●
137. 23886827 c.4238C>T p.S1413L missense 0.00001648●●●●●●
138. 23886846 c.4219G>A p.V1407I missense 0.00001648●●●●●●
139. 23891500 c.3134G>T p.R1045L missense 0.00001648●●●●●●
140. 23894557 c.2357C>T p.T786M missense 0.00001648●●●●●●
141. 23901688 c.530C>T p.T177I missense 0.00001647●●●●●●
142. 23898246 c.1325G>A p.R442H missense 0.00001647●●●●●●
143. 23884594 c.5279C>T p.T1760M missense 0.00001647●●●●●●
144. 23892881 c.2974C>A p.L992M missense 0.00001647●●●●●●
145. 23891482 c.3152C>T p.A1051V missense 0.00001647●●●●●●
146. 23888502 c.3856G>A p.E1286K missense 0.00001647●●●●●●
147. 23883054 c.5704G>A p.E1902K missense 0.00001647●●●●●●
148. 23902340 c.298G>A p.A100T missense 0.00001647●●●●●●
149. 23896982 c.1700G>A p.R567H missense 0.00001647●●●●●●
150. 23898256 c.1315A>T p.M439L missense 0.00001647●●●●●●
151. 23893262 c.2776C>G p.L926V missense 0.00001647●●●●●●
152. 23898449 c.1246A>C p.N416H missense 0.00001647●●●●●●
153. 23883069 c.5689C>T p.R1897C missense 0.00001647●●●●●●
154. 23884642 c.5231C>T p.A1744V missense 0.00001647●●●●●●
155. 23884672 c.5201T>G p.L1734R missense 0.00001647●●●●●●
156. 23885263 c.4903A>G p.M1635V missense 0.00001647●●●●●●
157. 23886176 c.4545G>C p.Q1515H missense 0.00001647●●●●●●
158. 23886196 c.4525A>C p.I1509L missense 0.00001647●●●●●●
159. 23886400 c.4481A>T p.H1494L missense 0.00001647●●●●●●
160. 23886422 c.4459G>A p.A1487T missense 0.00001647●●●●●●
161. 23888716 c.3829C>T p.R1277W missense 0.00001647●●●●●●
162. 23892761 c.3094G>A p.D1032N missense 0.00001647●●●●●●
163. 23892797 c.3058C>A p.L1020M missense 0.00001647●●●●●●
164. 23892818 c.3037G>A p.E1013K missense 0.00001647●●●●●●
165. 23893216 c.2822G>A p.R941H missense 0.00001647●●●●●●
166. 23893234 c.2804A>T p.E935V missense 0.00001647●●●●●●
167. 23893251 c.2787G>C p.E929D missense 0.00001647●●●●●●
168. 23893273 c.2765T>C p.M922T missense 0.00001647●●●●●●
169. 23896973 c.1709A>G p.K570R missense 0.00001647●●●●●●
170. 23897052 c.1630A>G p.T544A missense 0.00001647●●●●●●
171. 23897071 c.1611G>C p.E537D missense 0.00001647●●●●●●
172. 23898237 c.1334C>T p.A445V missense 0.00001647●●●●●●
173. 23900868 c.658A>G p.I220V missense 0.00001647●●●●●●
174. 23901008 c.601A>T p.I201F missense 0.00001647●●●●●●
175. 23901020 c.589G>A p.V197I missense 0.00001647●●●●●●
176. 23901908 c.442A>G p.S148G missense 0.00001647●●●●●●
177. 23902370 c.268A>G p.M90V missense 0.00001647●●●●●●
178. 23902385 c.253G>C p.D85H missense 0.00001647●●●●●●
179. 23889287 c.3493A>G p.K1165E missense 0.00001267●●●●●●
180. 23889404 c.3376C>T p.R1126C missense 0.00001022●●●●●●
181. 23889430 c.3350A>T p.E1117V missense 0.00000976●●●●●●
182. 23887614 c.3974C>G p.A1325G missense 0.00000873●●●●●●
183. 23887585 c.4003T>G p.S1335A missense 0.00000842●●●●●●
184. 23895283 c.2052G>A p.M684I missense 0.00000840●●●●●●
185. 23899800 c.968T>G p.I323S missense 0.00000839●●●●●●
186. 23887579 c.4009C>T p.R1337W missense 0.00000838●●●●●●
187. 23885510 c.4656G>T p.E1552D missense 0.00000836●●●●●●
188. 23899810 c.958G>A p.V320M missense 0.00000835●●●●●●
189. 23887570 c.4018T>C p.C1340R missense 0.00000832●●●●●●
190. 23899819 c.949G>C p.E317Q missense 0.00000832●●●●●●
191. 23887567 c.4021G>A p.D1341N missense 0.00000831●●●●●●
192. 23887567 c.4021G>T p.D1341Y missense 0.00000831●●●●●●
193. 23899870 c.898A>T p.M300L missense 0.00000831●●●●●●
194. 23885494 c.4672A>T p.I1558F missense 0.00000830●●●●●●
195. 23887565 c.4023C>A p.D1341E missense 0.00000830●●●●●●
196. 23896451 c.1954A>G p.R652G missense 0.00000829●●●●●●
197. 23899852 c.916A>G p.N306D missense 0.00000829●●●●●●
198. 23885488 c.4678C>T p.R1560W missense 0.00000829●●●●●●
199. 23886885 c.4180G>A p.A1394T missense 0.00000829●●●●●●
200. 23899832 c.936C>A p.F312L missense 0.00000829●●●●●●
201. 23899834 c.934T>C p.F312L missense 0.00000829●●●●●●
202. 23899855 c.913A>C p.N305H missense 0.00000829●●●●●●
203. 23899858 c.910A>T p.T304S missense 0.00000829●●●●●●
204. 23885487 c.4679G>A p.R1560Q missense 0.00000828●●●●●●
205. 23886878 c.4187G>A p.R1396Q missense 0.00000827●●●●●●
206. 23896492 c.1913C>T p.A638V missense 0.00000827●●●●●●
207. 23887548 c.4040A>G p.Y1347C missense 0.00000827●●●●●●
208. 23896509 c.1896G>T p.E632D missense 0.00000827●●●●●●
209. 23902920 c.22G>A p.V8I missense 0.00000827●●●●●●
210. 23902920 c.22G>C p.V8L missense 0.00000827●●●●●●
211. 23886509 c.4372C>G p.Q1458E missense 0.00000826●●●●●●
212. 23896823 c.1859T>A p.L620Q missense 0.00000826●●●●●●
213. 23884226 c.5537G>A p.R1846H missense 0.00000826●●●●●●
214. 23884233 c.5530G>A p.E1844K missense 0.00000826●●●●●●
215. 23887513 c.4075C>T p.R1359C missense 0.00000825●●●●●●
216. 23886115 c.4606G>A p.E1536K missense 0.00000825●●●●●●
217. 23901953 c.397G>A p.V133M missense 0.00000825●●●●●●
218. 23895986 c.2044G>A p.G682R missense 0.00000825●●●●●●
219. 23884260 c.5503G>C p.E1835Q missense 0.00000825●●●●●●
220. 23885041 c.4954G>A p.D1652N missense 0.00000825●●●●●●
221. 23885459 c.4707G>C p.K1569N missense 0.00000825●●●●●●
222. 23886118 c.4603G>A p.A1535T missense 0.00000825●●●●●●
223. 23886869 c.4196A>G p.E1399G missense 0.00000825●●●●●●
224. 23887525 c.4063G>A p.A1355T missense 0.00000825●●●●●●
225. 23887527 c.4061A>G p.K1354R missense 0.00000825●●●●●●
226. 23893357 c.2681A>T p.E894V missense 0.00000825●●●●●●
227. 23894602 c.2312G>C p.G771A missense 0.00000825●●●●●●
228. 23896055 c.1975A>G p.M659V missense 0.00000825●●●●●●
229. 23896059 c.1971G>T p.K657N missense 0.00000825●●●●●●
230. 23900184 c.821T>C p.I274T missense 0.00000825●●●●●●
231. 23902888 c.54G>C p.K18N missense 0.00000825●●●●●●
232. 23902901 c.41C>T p.P14L missense 0.00000825●●●●●●
233. 23902767 c.175G>A p.V59I missense 0.00000824●●●●●●
234. 23902295 c.343T>C p.Y115H missense 0.00000824●●●●●●
235. 23901922 c.428G>A p.R143Q missense 0.00000824●●●●●●
236. 23901907 c.443G>T p.S148I missense 0.00000824●●●●●●
237. 23900817 c.709C>T p.R237W missense 0.00000824●●●●●●
238. 23900798 c.728G>A p.R243H missense 0.00000824●●●●●●
239. 23898994 c.1128C>A p.D376E missense 0.00000824●●●●●●
240. 23898464 c.1231G>A p.V411I missense 0.00000824●●●●●●
241. 23898247 c.1324C>T p.R442C missense 0.00000824●●●●●●
242. 23897840 c.1447G>A p.E483K missense 0.00000824●●●●●●
243. 23896955 c.1727A>G p.H576R missense 0.00000824●●●●●●
244. 23894984 c.2206A>G p.I736V missense 0.00000824●●●●●●
245. 23894084 c.2573G>A p.R858H missense 0.00000824●●●●●●
246. 23894063 c.2594A>G p.K865R missense 0.00000824●●●●●●
247. 23894049 c.2608C>T p.R870C missense 0.00000824●●●●●●
248. 23892799 c.3056C>A p.T1019N missense 0.00000824●●●●●●
249. 23891465 c.3169G>A p.G1057S missense 0.00000824●●●●●●
250. 23891398 c.3236G>A p.R1079Q missense 0.00000824●●●●●●
251. 23888757 c.3788C>A p.A1263E missense 0.00000824●●●●●●
252. 23886807 c.4258C>T p.R1420W missense 0.00000824●●●●●●
253. 23884860 c.5135G>A p.R1712Q missense 0.00000824●●●●●●
254. 23884616 c.5257G>A p.E1753K missense 0.00000824●●●●●●
255. 23884458 c.5305C>A p.L1769M missense 0.00000824●●●●●●
256. 23883283 c.5588G>A p.R1863Q missense 0.00000824●●●●●●
257. 23898201 c.1370T>C p.I457T missense 0.00000824●●●●●●
258. 23896910 c.1772T>C p.I591T missense 0.00000824●●●●●●
259. 23893328 c.2710C>T p.R904C missense 0.00000824●●●●●●
260. 23891426 c.3208G>A p.E1070K missense 0.00000824●●●●●●
261. 23894494 c.2420G>A p.R807H missense 0.00000824●●●●●●
262. 23886717 c.4348G>A p.D1450N missense 0.00000824●●●●●●
263. 23884269 c.5494C>G p.R1832G missense 0.00000824●●●●●●
264. 23888815 c.3730A>C p.N1244H missense 0.00000824●●●●●●
265. 23900820 c.706G>A p.V236I missense 0.00000824●●●●●●
266. 23883098 c.5660A>G p.E1887G missense 0.00000824●●●●●●
267. 23883284 c.5587C>T p.R1863W missense 0.00000824●●●●●●
268. 23884304 c.5459G>A p.R1820Q missense 0.00000824●●●●●●
269. 23894096 c.2561A>C p.E854A missense 0.00000824●●●●●●
270. 23895013 c.2177A>G p.N726S missense 0.00000824●●●●●●
271. 23891466 c.3168G>C p.E1056D missense 0.00000824●●●●●●
272. 23894201 c.2456G>A p.R819Q missense 0.00000824●●●●●●
273. 23885225 c.4941G>C p.Q1647H missense 0.00000824●●●●●●
274. 23885020 c.4975G>A p.D1659N missense 0.00000824●●●●●●
275. 23883269 c.5602G>C p.V1868L missense 0.00000824●●●●●●
276. 23884651 c.5222T>C p.V1741A missense 0.00000824●●●●●●
277. 23888796 c.3749G>A p.R1250Q missense 0.00000824●●●●●●
278. 23890185 c.3318G>T p.K1106N missense 0.00000824●●●●●●
279. 23890209 c.3294G>C p.Q1098H missense 0.00000824●●●●●●
280. 23892850 c.3005C>T p.A1002V missense 0.00000824●●●●●●
281. 23892883 c.2972A>G p.K991R missense 0.00000824●●●●●●
282. 23894543 c.2371C>A p.Q791K missense 0.00000824●●●●●●
283. 23900130 c.875A>C p.N292T missense 0.00000824●●●●●●
284. 23882975 c.5783G>A p.G1928D missense 0.00000824●●●●●●
285. 23882984 c.5774G>A p.R1925H missense 0.00000824●●●●●●
286. 23882997 c.5761C>T p.R1921W missense 0.00000824●●●●●●
287. 23883021 c.5737G>A p.A1913T missense 0.00000824●●●●●●
288. 23883032 c.5726G>A p.R1909Q missense 0.00000824●●●●●●
289. 23883059 c.5699A>T p.Q1900L missense 0.00000824●●●●●●
290. 23883062 c.5696T>C p.V1899A missense 0.00000824●●●●●●
291. 23883071 c.5687T>C p.F1896S missense 0.00000824●●●●●●
292. 23883265 c.5606A>G p.D1869G missense 0.00000824●●●●●●
293. 23884265 c.5498A>G p.N1833S missense 0.00000824●●●●●●
294. 23884296 c.5467G>C p.E1823Q missense 0.00000824●●●●●●
295. 23884315 c.5448A>C p.E1816D missense 0.00000824●●●●●●
296. 23884344 c.5419G>A p.G1807S missense 0.00000824●●●●●●
297. 23884377 c.5386C>T p.R1796W missense 0.00000824●●●●●●
298. 23884389 c.5374G>A p.D1792N missense 0.00000824●●●●●●
299. 23884394 c.5369T>C p.I1790T missense 0.00000824●●●●●●
300. 23884400 c.5363A>G p.Q1788R missense 0.00000824●●●●●●
301. 23884415 c.5348A>G p.K1783R missense 0.00000824●●●●●●
302. 23884421 c.5342G>A p.R1781H missense 0.00000824●●●●●●
303. 23884460 c.5303A>T p.E1768V missense 0.00000824●●●●●●
304. 23884470 c.5293A>G p.M1765V missense 0.00000824●●●●●●
305. 23884475 c.5288C>T p.A1763V missense 0.00000824●●●●●●
306. 23884639 c.5234T>C p.V1745A missense 0.00000824●●●●●●
307. 23884642 c.5231C>A p.A1744E missense 0.00000824●●●●●●
308. 23884643 c.5230G>T p.A1744S missense 0.00000824●●●●●●
309. 23884686 c.5187G>T p.K1729N missense 0.00000824●●●●●●
310. 23884865 c.5130T>G p.S1710R missense 0.00000824●●●●●●
311. 23884876 c.5119A>T p.I1707F missense 0.00000824●●●●●●
312. 23884890 c.5105C>A p.A1702E missense 0.00000824●●●●●●
313. 23884890 c.5105C>T p.A1702V missense 0.00000824●●●●●●
314. 23884921 c.5074G>T p.V1692L missense 0.00000824●●●●●●
315. 23884941 c.5054T>A p.L1685Q missense 0.00000824●●●●●●
316. 23884956 c.5039T>C p.L1680P missense 0.00000824●●●●●●
317. 23884963 c.5032A>C p.N1678H missense 0.00000824●●●●●●
318. 23884969 c.5026C>T p.R1676W missense 0.00000824●●●●●●
319. 23884978 c.5017A>G p.I1673V missense 0.00000824●●●●●●
320. 23884999 c.4996G>A p.D1666N missense 0.00000824●●●●●●
321. 23885002 c.4993G>A p.D1665N missense 0.00000824●●●●●●
322. 23885011 c.4984C>T p.R1662C missense 0.00000824●●●●●●
323. 23885223 c.4943G>A p.S1648N missense 0.00000824●●●●●●
324. 23885305 c.4861G>A p.D1621N missense 0.00000824●●●●●●
325. 23885335 c.4831G>T p.A1611S missense 0.00000824●●●●●●
326. 23885343 c.4823G>T p.R1608L missense 0.00000824●●●●●●
327. 23885345 c.4821C>A p.S1607R missense 0.00000824●●●●●●
328. 23885380 c.4786T>C p.S1596P missense 0.00000824●●●●●●
329. 23885386 c.4780G>C p.V1594L missense 0.00000824●●●●●●
330. 23885415 c.4751A>G p.E1584G missense 0.00000824●●●●●●
331. 23886132 c.4589G>A p.R1530Q missense 0.00000824●●●●●●
332. 23886133 c.4588C>G p.R1530G missense 0.00000824●●●●●●
333. 23886163 c.4558G>A p.G1520R missense 0.00000824●●●●●●
334. 23886168 c.4553C>A p.S1518Y missense 0.00000824●●●●●●
335. 23886185 c.4536G>C p.L1512F missense 0.00000824●●●●●●
336. 23886410 c.4471T>A p.S1491T missense 0.00000824●●●●●●
337. 23886440 c.4441C>T p.L1481F missense 0.00000824●●●●●●
338. 23886744 c.4321G>T p.A1441S missense 0.00000824●●●●●●
339. 23886773 c.4292A>G p.D1431G missense 0.00000824●●●●●●
340. 23886779 c.4286T>C p.M1429T missense 0.00000824●●●●●●
341. 23886849 c.4216G>A p.A1406T missense 0.00000824●●●●●●
342. 23887429 c.4159G>C p.E1387Q missense 0.00000824●●●●●●
343. 23887447 c.4141C>G p.Q1381E missense 0.00000824●●●●●●
344. 23888450 c.3908G>A p.R1303Q missense 0.00000824●●●●●●
345. 23888475 c.3883G>A p.E1295K missense 0.00000824●●●●●●
346. 23888736 c.3809T>C p.V1270A missense 0.00000824●●●●●●
347. 23888748 c.3797C>A p.T1266N missense 0.00000824●●●●●●
348. 23888763 c.3782G>A p.S1261N missense 0.00000824●●●●●●
349. 23888767 c.3778C>T p.R1260W missense 0.00000824●●●●●●
350. 23888796 c.3749G>C p.R1250P missense 0.00000824●●●●●●
351. 23890220 c.3283G>A p.E1095K missense 0.00000824●●●●●●
352. 23891405 c.3229G>T p.D1077Y missense 0.00000824●●●●●●
353. 23891438 c.3196A>G p.I1066V missense 0.00000824●●●●●●
354. 23891485 c.3149G>C p.R1050P missense 0.00000824●●●●●●
355. 23891497 c.3137T>G p.M1046R missense 0.00000824●●●●●●
356. 23892766 c.3089A>G p.Q1030R missense 0.00000824●●●●●●
357. 23892787 c.3068C>T p.A1023V missense 0.00000824●●●●●●
358. 23892805 c.3050T>C p.V1017A missense 0.00000824●●●●●●
359. 23892809 c.3046A>G p.K1016E missense 0.00000824●●●●●●
360. 23892815 c.3040G>A p.E1014K missense 0.00000824●●●●●●
361. 23892827 c.3028C>T p.L1010F missense 0.00000824●●●●●●
362. 23892845 c.3010C>G p.Q1004E missense 0.00000824●●●●●●
363. 23892873 c.2982G>C p.K994N missense 0.00000824●●●●●●
364. 23892887 c.2968G>A p.A990T missense 0.00000824●●●●●●
365. 23893147 c.2891T>C p.V964A missense 0.00000824●●●●●●
366. 23893192 c.2846A>T p.E949V missense 0.00000824●●●●●●
367. 23893217 c.2821C>A p.R941S missense 0.00000824●●●●●●
368. 23893226 c.2812G>T p.A938S missense 0.00000824●●●●●●
369. 23893272 c.2766G>T p.M922I missense 0.00000824●●●●●●
370. 23893276 c.2762A>C p.E921A missense 0.00000824●●●●●●
371. 23893289 c.2749G>A p.A917T missense 0.00000824●●●●●●
372. 23893349 c.2689A>C p.N897H missense 0.00000824●●●●●●
373. 23893980 c.2677G>A p.A893T missense 0.00000824●●●●●●
374. 23893992 c.2665C>T p.L889F missense 0.00000824●●●●●●
375. 23894084 c.2573G>T p.R858L missense 0.00000824●●●●●●
376. 23894205 c.2452A>G p.I818V missense 0.00000824●●●●●●
377. 23894514 c.2400G>T p.E800D missense 0.00000824●●●●●●
378. 23894567 c.2347C>T p.R783C missense 0.00000824●●●●●●
379. 23895201 c.2134C>T p.R712C missense 0.00000824●●●●●●
380. 23896033 c.1997A>G p.H666R missense 0.00000824●●●●●●
381. 23896894 c.1788G>C p.K596N missense 0.00000824●●●●●●
382. 23896916 c.1766A>G p.N589S missense 0.00000824●●●●●●
383. 23896926 c.1756G>A p.V586M missense 0.00000824●●●●●●
384. 23896928 c.1754T>C p.I585T missense 0.00000824●●●●●●
385. 23896952 c.1730T>C p.F577S missense 0.00000824●●●●●●
386. 23896953 c.1729T>C p.F577L missense 0.00000824●●●●●●
387. 23896980 c.1702A>G p.N568D missense 0.00000824●●●●●●
388. 23896983 c.1699C>T p.R567C missense 0.00000824●●●●●●
389. 23897001 c.1681G>T p.A561S missense 0.00000824●●●●●●
390. 23897020 c.1662C>A p.D554E missense 0.00000824●●●●●●
391. 23897081 c.1601T>C p.L534P missense 0.00000824●●●●●●
392. 23897094 c.1588A>G p.I530V missense 0.00000824●●●●●●
393. 23897768 c.1519G>A p.E507K missense 0.00000824●●●●●●
394. 23898166 c.1405G>A p.D469N missense 0.00000824●●●●●●
395. 23898309 c.1262T>C p.I421T missense 0.00000824●●●●●●
396. 23898996 c.1126G>C p.D376H missense 0.00000824●●●●●●
397. 23899027 c.1095G>T p.K365N missense 0.00000824●●●●●●
398. 23899036 c.1086G>T p.M362I missense 0.00000824●●●●●●
399. 23899089 c.1033G>A p.E345K missense 0.00000824●●●●●●
400. 23899104 c.1018G>A p.G340S missense 0.00000824●●●●●●
401. 23900152 c.853A>G p.I285V missense 0.00000824●●●●●●
402. 23900672 c.751C>T p.H251Y missense 0.00000824●●●●●●
403. 23900886 c.640G>A p.G214S missense 0.00000824●●●●●●
404. 23901044 c.565A>C p.K189Q missense 0.00000824●●●●●●
405. 23901068 c.541G>A p.G181R missense 0.00000824●●●●●●
406. 23901850 c.500C>G p.T167R missense 0.00000824●●●●●●
407. 23901885 c.465C>A p.F155L missense 0.00000824●●●●●●
408. 23901905 c.445G>A p.E149K missense 0.00000824●●●●●●
409. 23902297 c.341T>C p.I114T missense 0.00000824●●●●●●
410. 23902298 c.340A>T p.I114F missense 0.00000824●●●●●●
411. 23902340 c.298G>T p.A100S missense 0.00000824●●●●●●
412. 23902430 c.208A>T p.T70S missense 0.00000824●●●●●●
413. 23902758 c.184G>A p.E62K missense 0.00000824●●●●●●
414. 23902767 c.175G>T p.V59F missense 0.00000824●●●●●●
415. 23902776 c.166G>A p.G56S missense 0.00000824●●●●●●
416. 23902781 c.161G>T p.R54L missense 0.00000824●●●●●●
417. 23902782 c.160C>G p.R54G missense 0.00000824●●●●●●
418. 23902804 c.138T>A p.F46L missense 0.00000824●●●●●●
419. 23902818 c.124G>A p.D42N missense 0.00000824●●●●●●
420. 23902851 c.91T>C p.F31L missense 0.00000824●●●●●●
421. 23902866 c.76G>A p.A26T missense 0.00000824●●●●●●

* 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.