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. 23884630 c.5243G>A p.C1748Y missense 0.00004942●●●●●●
38. 23885349 c.4817G>A p.R1606H missense 0.00004942●●●●●●
39. 23901923 c.427C>T p.R143W missense 0.00004942●●●●●●
40. 23886771 c.4294G>A p.V1432I 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. 23885379 c.4787C>T p.S1596L missense 0.00004118●●●●●●
47. 23885272 c.4894G>A p.A1632T missense 0.00004118●●●●●●
48. 23888715 c.3830G>A p.R1277Q missense 0.00004118●●●●●●
49. 23884476 c.5287G>A p.A1763T missense 0.00004118●●●●●●
50. 23892820 c.3035C>A p.A1012D missense 0.00004118●●●●●●
51. 23884434 c.5329G>A p.A1777T 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. 23884268 c.5495G>A p.R1832H missense 0.00003297●●●●●●
59. 23882979 c.5779A>T p.I1927F missense 0.00003297●●●●●●
60. 23894525 c.2389G>A p.A797T missense 0.00003296●●●●●●
61. 23883033 c.5725C>T p.R1909W missense 0.00003295●●●●●●
62. 23888766 c.3779G>A p.R1260Q missense 0.00003295●●●●●●
63. 23885217 c.4949T>C p.L1650S missense 0.00003295●●●●●●
64. 23884981 c.5014G>A p.A1672T missense 0.00003295●●●●●●
65. 23884670 c.5203T>A p.S1735T missense 0.00003295●●●●●●
66. 23884341 c.5422G>A p.G1808S missense 0.00003295●●●●●●
67. 23884437 c.5326A>G p.S1776G missense 0.00003295●●●●●●
68. 23891500 c.3134G>A p.R1045H missense 0.00003295●●●●●●
69. 23885247 c.4919A>T p.Q1640L missense 0.00003295●●●●●●
70. 23886782 c.4283T>C p.L1428S missense 0.00003295●●●●●●
71. 23888744 c.3801G>C p.Q1267H missense 0.00003295●●●●●●
72. 23894051 c.2606G>A p.R869H missense 0.00003295●●●●●●
73. 23894072 c.2585C>T p.A862V 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. 23884305 c.5458C>G p.R1820G missense 0.00002472●●●●●●
83. 23884305 c.5458C>T p.R1820W missense 0.00002472●●●●●●
84. 23885445 c.4721G>A p.R1574Q missense 0.00002472●●●●●●
85. 23885003 c.4992C>A p.N1664K missense 0.00002472●●●●●●
86. 23884278 c.5485G>A p.E1829K missense 0.00002472●●●●●●
87. 23902310 c.328G>A p.G110S missense 0.00002472●●●●●●
88. 23886446 c.4435A>G p.T1479A missense 0.00002471●●●●●●
89. 23884905 c.5090G>A p.R1697Q missense 0.00002471●●●●●●
90. 23898993 c.1129G>A p.G377S missense 0.00002471●●●●●●
91. 23885343 c.4823G>A p.R1608H missense 0.00002471●●●●●●
92. 23884644 c.5229G>T p.E1743D missense 0.00002471●●●●●●
93. 23891496 c.3138G>A p.M1046I missense 0.00002471●●●●●●
94. 23895023 c.2167C>T p.R723C missense 0.00002471●●●●●●
95. 23886382 c.4499G>A p.R1500Q missense 0.00002471●●●●●●
96. 23900977 c.632C>T p.P211L missense 0.00002471●●●●●●
97. 23888731 c.3814G>A p.D1272N missense 0.00002471●●●●●●
98. 23900999 c.610C>T p.R204C missense 0.00002471●●●●●●
99. 23888768 c.3777C>A p.H1259Q missense 0.00002471●●●●●●
100. 23884975 c.5020G>A p.V1674M missense 0.00002471●●●●●●
101. 23885262 c.4904T>C p.M1635T missense 0.00002471●●●●●●
102. 23899077 c.1045A>G p.M349V missense 0.00002471●●●●●●
103. 23884907 c.5088G>C p.E1696D missense 0.00002471●●●●●●
104. 23884930 c.5065C>T p.R1689C missense 0.00002471●●●●●●
105. 23901869 c.481G>A p.A161T missense 0.00002471●●●●●●
106. 23886394 c.4487A>C p.E1496A 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. 23896513 c.1892T>C p.I631T missense 0.00001654●●●●●●
115. 23885479 c.4687C>G p.L1563V missense 0.00001654●●●●●●
116. 23884227 c.5536C>T p.R1846C missense 0.00001653●●●●●●
117. 23884256 c.5507C>G p.S1836W missense 0.00001650●●●●●●
118. 23884263 c.5500G>T p.A1834S missense 0.00001649●●●●●●
119. 23890235 c.3268C>G p.L1090V 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. 23886855 c.4210G>A p.V1404M missense 0.00001648●●●●●●
124. 23886827 c.4238C>T p.S1413L missense 0.00001648●●●●●●
125. 23894557 c.2357C>T p.T786M missense 0.00001648●●●●●●
126. 23891434 c.3200T>C p.M1067T missense 0.00001648●●●●●●
127. 23884311 c.5452C>T p.R1818W missense 0.00001648●●●●●●
128. 23894566 c.2348G>A p.R783H missense 0.00001648●●●●●●
129. 23884966 c.5029C>T p.R1677C missense 0.00001648●●●●●●
130. 23891500 c.3134G>T p.R1045L missense 0.00001648●●●●●●
131. 23884930 c.5065C>G p.R1689G missense 0.00001648●●●●●●
132. 23886846 c.4219G>A p.V1407I missense 0.00001648●●●●●●
133. 23884982 c.5013C>G p.I1671M missense 0.00001648●●●●●●
134. 23891501 c.3133C>T p.R1045C missense 0.00001648●●●●●●
135. 23894058 c.2599G>A p.E867K missense 0.00001648●●●●●●
136. 23884929 c.5066G>A p.R1689H missense 0.00001648●●●●●●
137. 23886150 c.4571A>C p.H1524P missense 0.00001648●●●●●●
138. 23894021 c.2636C>A p.S879Y missense 0.00001648●●●●●●
139. 23896042 c.1988G>A p.R663H missense 0.00001648●●●●●●
140. 23886764 c.4301G>A p.R1434H missense 0.00001648●●●●●●
141. 23885263 c.4903A>G p.M1635V missense 0.00001647●●●●●●
142. 23898237 c.1334C>T p.A445V missense 0.00001647●●●●●●
143. 23893216 c.2822G>A p.R941H missense 0.00001647●●●●●●
144. 23902340 c.298G>A p.A100T missense 0.00001647●●●●●●
145. 23901688 c.530C>T p.T177I missense 0.00001647●●●●●●
146. 23901908 c.442A>G p.S148G missense 0.00001647●●●●●●
147. 23893262 c.2776C>G p.L926V missense 0.00001647●●●●●●
148. 23893251 c.2787G>C p.E929D missense 0.00001647●●●●●●
149. 23884672 c.5201T>G p.L1734R missense 0.00001647●●●●●●
150. 23901020 c.589G>A p.V197I missense 0.00001647●●●●●●
151. 23886196 c.4525A>C p.I1509L missense 0.00001647●●●●●●
152. 23892881 c.2974C>A p.L992M missense 0.00001647●●●●●●
153. 23888716 c.3829C>T p.R1277W missense 0.00001647●●●●●●
154. 23897052 c.1630A>G p.T544A missense 0.00001647●●●●●●
155. 23886422 c.4459G>A p.A1487T missense 0.00001647●●●●●●
156. 23898449 c.1246A>C p.N416H missense 0.00001647●●●●●●
157. 23896982 c.1700G>A p.R567H missense 0.00001647●●●●●●
158. 23902370 c.268A>G p.M90V missense 0.00001647●●●●●●
159. 23892797 c.3058C>A p.L1020M missense 0.00001647●●●●●●
160. 23892761 c.3094G>A p.D1032N missense 0.00001647●●●●●●
161. 23898246 c.1325G>A p.R442H missense 0.00001647●●●●●●
162. 23892818 c.3037G>A p.E1013K missense 0.00001647●●●●●●
163. 23897071 c.1611G>C p.E537D missense 0.00001647●●●●●●
164. 23891482 c.3152C>T p.A1051V missense 0.00001647●●●●●●
165. 23886176 c.4545G>C p.Q1515H missense 0.00001647●●●●●●
166. 23884642 c.5231C>T p.A1744V missense 0.00001647●●●●●●
167. 23898256 c.1315A>T p.M439L missense 0.00001647●●●●●●
168. 23883054 c.5704G>A p.E1902K missense 0.00001647●●●●●●
169. 23902385 c.253G>C p.D85H missense 0.00001647●●●●●●
170. 23896973 c.1709A>G p.K570R missense 0.00001647●●●●●●
171. 23886400 c.4481A>T p.H1494L missense 0.00001647●●●●●●
172. 23893273 c.2765T>C p.M922T missense 0.00001647●●●●●●
173. 23893234 c.2804A>T p.E935V missense 0.00001647●●●●●●
174. 23883069 c.5689C>T p.R1897C missense 0.00001647●●●●●●
175. 23884594 c.5279C>T p.T1760M missense 0.00001647●●●●●●
176. 23901008 c.601A>T p.I201F missense 0.00001647●●●●●●
177. 23888502 c.3856G>A p.E1286K missense 0.00001647●●●●●●
178. 23900868 c.658A>G p.I220V 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. 23899819 c.949G>C p.E317Q missense 0.00000832●●●●●●
190. 23887570 c.4018T>C p.C1340R 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. 23887565 c.4023C>A p.D1341E missense 0.00000830●●●●●●
195. 23885494 c.4672A>T p.I1558F missense 0.00000830●●●●●●
196. 23899855 c.913A>C p.N305H missense 0.00000829●●●●●●
197. 23886885 c.4180G>A p.A1394T missense 0.00000829●●●●●●
198. 23899852 c.916A>G p.N306D missense 0.00000829●●●●●●
199. 23899858 c.910A>T p.T304S missense 0.00000829●●●●●●
200. 23885488 c.4678C>T p.R1560W missense 0.00000829●●●●●●
201. 23896451 c.1954A>G p.R652G missense 0.00000829●●●●●●
202. 23899832 c.936C>A p.F312L missense 0.00000829●●●●●●
203. 23899834 c.934T>C p.F312L missense 0.00000829●●●●●●
204. 23885487 c.4679G>A p.R1560Q missense 0.00000828●●●●●●
205. 23896492 c.1913C>T p.A638V missense 0.00000827●●●●●●
206. 23886878 c.4187G>A p.R1396Q missense 0.00000827●●●●●●
207. 23902920 c.22G>A p.V8I missense 0.00000827●●●●●●
208. 23887548 c.4040A>G p.Y1347C missense 0.00000827●●●●●●
209. 23896509 c.1896G>T p.E632D missense 0.00000827●●●●●●
210. 23902920 c.22G>C p.V8L missense 0.00000827●●●●●●
211. 23896823 c.1859T>A p.L620Q missense 0.00000826●●●●●●
212. 23884233 c.5530G>A p.E1844K missense 0.00000826●●●●●●
213. 23886509 c.4372C>G p.Q1458E missense 0.00000826●●●●●●
214. 23884226 c.5537G>A p.R1846H missense 0.00000826●●●●●●
215. 23887525 c.4063G>A p.A1355T missense 0.00000825●●●●●●
216. 23902888 c.54G>C p.K18N missense 0.00000825●●●●●●
217. 23886869 c.4196A>G p.E1399G missense 0.00000825●●●●●●
218. 23895986 c.2044G>A p.G682R missense 0.00000825●●●●●●
219. 23896055 c.1975A>G p.M659V missense 0.00000825●●●●●●
220. 23902901 c.41C>T p.P14L missense 0.00000825●●●●●●
221. 23900184 c.821T>C p.I274T missense 0.00000825●●●●●●
222. 23887513 c.4075C>T p.R1359C missense 0.00000825●●●●●●
223. 23886115 c.4606G>A p.E1536K missense 0.00000825●●●●●●
224. 23887527 c.4061A>G p.K1354R missense 0.00000825●●●●●●
225. 23896059 c.1971G>T p.K657N missense 0.00000825●●●●●●
226. 23901953 c.397G>A p.V133M missense 0.00000825●●●●●●
227. 23894602 c.2312G>C p.G771A missense 0.00000825●●●●●●
228. 23884260 c.5503G>C p.E1835Q missense 0.00000825●●●●●●
229. 23886118 c.4603G>A p.A1535T missense 0.00000825●●●●●●
230. 23885041 c.4954G>A p.D1652N missense 0.00000825●●●●●●
231. 23893357 c.2681A>T p.E894V missense 0.00000825●●●●●●
232. 23885459 c.4707G>C p.K1569N missense 0.00000825●●●●●●
233. 23885335 c.4831G>T p.A1611S missense 0.00000824●●●●●●
234. 23898996 c.1126G>C p.D376H missense 0.00000824●●●●●●
235. 23902851 c.91T>C p.F31L missense 0.00000824●●●●●●
236. 23883284 c.5587C>T p.R1863W missense 0.00000824●●●●●●
237. 23902767 c.175G>T p.V59F missense 0.00000824●●●●●●
238. 23896980 c.1702A>G p.N568D missense 0.00000824●●●●●●
239. 23892809 c.3046A>G p.K1016E missense 0.00000824●●●●●●
240. 23884978 c.5017A>G p.I1673V missense 0.00000824●●●●●●
241. 23900798 c.728G>A p.R243H missense 0.00000824●●●●●●
242. 23901850 c.500C>G p.T167R missense 0.00000824●●●●●●
243. 23891405 c.3229G>T p.D1077Y missense 0.00000824●●●●●●
244. 23886410 c.4471T>A p.S1491T missense 0.00000824●●●●●●
245. 23888815 c.3730A>C p.N1244H missense 0.00000824●●●●●●
246. 23886132 c.4589G>A p.R1530Q missense 0.00000824●●●●●●
247. 23884639 c.5234T>C p.V1745A missense 0.00000824●●●●●●
248. 23884651 c.5222T>C p.V1741A missense 0.00000824●●●●●●
249. 23900152 c.853A>G p.I285V missense 0.00000824●●●●●●
250. 23892799 c.3056C>A p.T1019N missense 0.00000824●●●●●●
251. 23899089 c.1033G>A p.E345K missense 0.00000824●●●●●●
252. 23893276 c.2762A>C p.E921A missense 0.00000824●●●●●●
253. 23894049 c.2608C>T p.R870C missense 0.00000824●●●●●●
254. 23884377 c.5386C>T p.R1796W missense 0.00000824●●●●●●
255. 23902782 c.160C>G p.R54G missense 0.00000824●●●●●●
256. 23897094 c.1588A>G p.I530V missense 0.00000824●●●●●●
257. 23892887 c.2968G>A p.A990T missense 0.00000824●●●●●●
258. 23892827 c.3028C>T p.L1010F missense 0.00000824●●●●●●
259. 23883071 c.5687T>C p.F1896S missense 0.00000824●●●●●●
260. 23896916 c.1766A>G p.N589S missense 0.00000824●●●●●●
261. 23886773 c.4292A>G p.D1431G missense 0.00000824●●●●●●
262. 23884963 c.5032A>C p.N1678H missense 0.00000824●●●●●●
263. 23882997 c.5761C>T p.R1921W missense 0.00000824●●●●●●
264. 23898247 c.1324C>T p.R442C missense 0.00000824●●●●●●
265. 23902340 c.298G>T p.A100S missense 0.00000824●●●●●●
266. 23896952 c.1730T>C p.F577S missense 0.00000824●●●●●●
267. 23892787 c.3068C>T p.A1023V missense 0.00000824●●●●●●
268. 23884458 c.5305C>A p.L1769M missense 0.00000824●●●●●●
269. 23890209 c.3294G>C p.Q1098H missense 0.00000824●●●●●●
270. 23901922 c.428G>A p.R143Q missense 0.00000824●●●●●●
271. 23888796 c.3749G>C p.R1250P missense 0.00000824●●●●●●
272. 23884876 c.5119A>T p.I1707F missense 0.00000824●●●●●●
273. 23894205 c.2452A>G p.I818V missense 0.00000824●●●●●●
274. 23891465 c.3169G>A p.G1057S missense 0.00000824●●●●●●
275. 23893980 c.2677G>A p.A893T missense 0.00000824●●●●●●
276. 23884470 c.5293A>G p.M1765V missense 0.00000824●●●●●●
277. 23884415 c.5348A>G p.K1783R missense 0.00000824●●●●●●
278. 23894494 c.2420G>A p.R807H missense 0.00000824●●●●●●
279. 23898309 c.1262T>C p.I421T missense 0.00000824●●●●●●
280. 23893217 c.2821C>A p.R941S missense 0.00000824●●●●●●
281. 23884265 c.5498A>G p.N1833S missense 0.00000824●●●●●●
282. 23899027 c.1095G>T p.K365N missense 0.00000824●●●●●●
283. 23894084 c.2573G>A p.R858H missense 0.00000824●●●●●●
284. 23883059 c.5699A>T p.Q1900L missense 0.00000824●●●●●●
285. 23884304 c.5459G>A p.R1820Q missense 0.00000824●●●●●●
286. 23898201 c.1370T>C p.I457T missense 0.00000824●●●●●●
287. 23902776 c.166G>A p.G56S missense 0.00000824●●●●●●
288. 23883283 c.5588G>A p.R1863Q missense 0.00000824●●●●●●
289. 23896955 c.1727A>G p.H576R missense 0.00000824●●●●●●
290. 23902430 c.208A>T p.T70S missense 0.00000824●●●●●●
291. 23896983 c.1699C>T p.R567C missense 0.00000824●●●●●●
292. 23892815 c.3040G>A p.E1014K missense 0.00000824●●●●●●
293. 23902297 c.341T>C p.I114T missense 0.00000824●●●●●●
294. 23884860 c.5135G>A p.R1712Q missense 0.00000824●●●●●●
295. 23901885 c.465C>A p.F155L missense 0.00000824●●●●●●
296. 23891438 c.3196A>G p.I1066V missense 0.00000824●●●●●●
297. 23884921 c.5074G>T p.V1692L missense 0.00000824●●●●●●
298. 23894567 c.2347C>T p.R783C missense 0.00000824●●●●●●
299. 23888767 c.3778C>T p.R1260W missense 0.00000824●●●●●●
300. 23886168 c.4553C>A p.S1518Y missense 0.00000824●●●●●●
301. 23888748 c.3797C>A p.T1266N missense 0.00000824●●●●●●
302. 23886133 c.4588C>G p.R1530G missense 0.00000824●●●●●●
303. 23884642 c.5231C>A p.A1744E missense 0.00000824●●●●●●
304. 23900886 c.640G>A p.G214S missense 0.00000824●●●●●●
305. 23885020 c.4975G>A p.D1659N missense 0.00000824●●●●●●
306. 23885380 c.4786T>C p.S1596P missense 0.00000824●●●●●●
307. 23884389 c.5374G>A p.D1792N missense 0.00000824●●●●●●
308. 23891466 c.3168G>C p.E1056D missense 0.00000824●●●●●●
309. 23899104 c.1018G>A p.G340S missense 0.00000824●●●●●●
310. 23893289 c.2749G>A p.A917T missense 0.00000824●●●●●●
311. 23902866 c.76G>A p.A26T missense 0.00000824●●●●●●
312. 23883265 c.5606A>G p.D1869G missense 0.00000824●●●●●●
313. 23902804 c.138T>A p.F46L missense 0.00000824●●●●●●
314. 23897768 c.1519G>A p.E507K missense 0.00000824●●●●●●
315. 23893147 c.2891T>C p.V964A missense 0.00000824●●●●●●
316. 23892845 c.3010C>G p.Q1004E missense 0.00000824●●●●●●
317. 23885223 c.4943G>A p.S1648N missense 0.00000824●●●●●●
318. 23896953 c.1729T>C p.F577L missense 0.00000824●●●●●●
319. 23898464 c.1231G>A p.V411I missense 0.00000824●●●●●●
320. 23886779 c.4286T>C p.M1429T missense 0.00000824●●●●●●
321. 23884969 c.5026C>T p.R1676W missense 0.00000824●●●●●●
322. 23883021 c.5737G>A p.A1913T missense 0.00000824●●●●●●
323. 23882975 c.5783G>A p.G1928D missense 0.00000824●●●●●●
324. 23900820 c.706G>A p.V236I missense 0.00000824●●●●●●
325. 23884890 c.5105C>A p.A1702E missense 0.00000824●●●●●●
326. 23884686 c.5187G>T p.K1729N missense 0.00000824●●●●●●
327. 23892850 c.3005C>T p.A1002V missense 0.00000824●●●●●●
328. 23901044 c.565A>C p.K189Q missense 0.00000824●●●●●●
329. 23890220 c.3283G>A p.E1095K missense 0.00000824●●●●●●
330. 23884421 c.5342G>A p.R1781H missense 0.00000824●●●●●●
331. 23888757 c.3788C>A p.A1263E missense 0.00000824●●●●●●
332. 23891398 c.3236G>A p.R1079Q missense 0.00000824●●●●●●
333. 23893992 c.2665C>T p.L889F missense 0.00000824●●●●●●
334. 23884475 c.5288C>T p.A1763V missense 0.00000824●●●●●●
335. 23899036 c.1086G>T p.M362I missense 0.00000824●●●●●●
336. 23893272 c.2766G>T p.M922I missense 0.00000824●●●●●●
337. 23894063 c.2594A>G p.K865R missense 0.00000824●●●●●●
338. 23893226 c.2812G>T p.A938S missense 0.00000824●●●●●●
339. 23885343 c.4823G>T p.R1608L missense 0.00000824●●●●●●
340. 23884315 c.5448A>C p.E1816D missense 0.00000824●●●●●●
341. 23885305 c.4861G>A p.D1621N missense 0.00000824●●●●●●
342. 23894096 c.2561A>C p.E854A missense 0.00000824●●●●●●
343. 23897001 c.1681G>T p.A561S missense 0.00000824●●●●●●
344. 23887429 c.4159G>C p.E1387Q missense 0.00000824●●●●●●
345. 23885011 c.4984C>T p.R1662C missense 0.00000824●●●●●●
346. 23884999 c.4996G>A p.D1666N missense 0.00000824●●●●●●
347. 23883062 c.5696T>C p.V1899A missense 0.00000824●●●●●●
348. 23896910 c.1772T>C p.I591T missense 0.00000824●●●●●●
349. 23902781 c.161G>T p.R54L missense 0.00000824●●●●●●
350. 23886440 c.4441C>T p.L1481F missense 0.00000824●●●●●●
351. 23900130 c.875A>C p.N292T missense 0.00000824●●●●●●
352. 23902298 c.340A>T p.I114F missense 0.00000824●●●●●●
353. 23896926 c.1756G>A p.V586M missense 0.00000824●●●●●●
354. 23884616 c.5257G>A p.E1753K missense 0.00000824●●●●●●
355. 23901905 c.445G>A p.E149K missense 0.00000824●●●●●●
356. 23891485 c.3149G>C p.R1050P missense 0.00000824●●●●●●
357. 23886744 c.4321G>T p.A1441S missense 0.00000824●●●●●●
358. 23884941 c.5054T>A p.L1685Q missense 0.00000824●●●●●●
359. 23886807 c.4258C>T p.R1420W missense 0.00000824●●●●●●
360. 23902767 c.175G>A p.V59I missense 0.00000824●●●●●●
361. 23900672 c.751C>T p.H251Y missense 0.00000824●●●●●●
362. 23888796 c.3749G>A p.R1250Q missense 0.00000824●●●●●●
363. 23886717 c.4348G>A p.D1450N missense 0.00000824●●●●●●
364. 23893349 c.2689A>C p.N897H missense 0.00000824●●●●●●
365. 23888450 c.3908G>A p.R1303Q missense 0.00000824●●●●●●
366. 23885386 c.4780G>C p.V1594L missense 0.00000824●●●●●●
367. 23884394 c.5369T>C p.I1790T missense 0.00000824●●●●●●
368. 23902818 c.124G>A p.D42N missense 0.00000824●●●●●●
369. 23898166 c.1405G>A p.D469N missense 0.00000824●●●●●●
370. 23893192 c.2846A>T p.E949V missense 0.00000824●●●●●●
371. 23902758 c.184G>A p.E62K missense 0.00000824●●●●●●
372. 23882984 c.5774G>A p.R1925H missense 0.00000824●●●●●●
373. 23897840 c.1447G>A p.E483K missense 0.00000824●●●●●●
374. 23892805 c.3050T>C p.V1017A missense 0.00000824●●●●●●
375. 23886849 c.4216G>A p.A1406T missense 0.00000824●●●●●●
376. 23892766 c.3089A>G p.Q1030R missense 0.00000824●●●●●●
377. 23883032 c.5726G>A p.R1909Q missense 0.00000824●●●●●●
378. 23883098 c.5660A>G p.E1887G missense 0.00000824●●●●●●
379. 23901907 c.443G>T p.S148I missense 0.00000824●●●●●●
380. 23884890 c.5105C>T p.A1702V missense 0.00000824●●●●●●
381. 23894543 c.2371C>A p.Q791K missense 0.00000824●●●●●●
382. 23892883 c.2972A>G p.K991R missense 0.00000824●●●●●●
383. 23900817 c.709C>T p.R237W missense 0.00000824●●●●●●
384. 23901068 c.541G>A p.G181R missense 0.00000824●●●●●●
385. 23883269 c.5602G>C p.V1868L missense 0.00000824●●●●●●
386. 23884460 c.5303A>T p.E1768V missense 0.00000824●●●●●●
387. 23885225 c.4941G>C p.Q1647H missense 0.00000824●●●●●●
388. 23894514 c.2400G>T p.E800D missense 0.00000824●●●●●●
389. 23888763 c.3782G>A p.S1261N missense 0.00000824●●●●●●
390. 23894084 c.2573G>T p.R858L missense 0.00000824●●●●●●
391. 23888736 c.3809T>C p.V1270A missense 0.00000824●●●●●●
392. 23884296 c.5467G>C p.E1823Q missense 0.00000824●●●●●●
393. 23895013 c.2177A>G p.N726S missense 0.00000824●●●●●●
394. 23885345 c.4821C>A p.S1607R missense 0.00000824●●●●●●
395. 23884344 c.5419G>A p.G1807S missense 0.00000824●●●●●●
396. 23892873 c.2982G>C p.K994N missense 0.00000824●●●●●●
397. 23897020 c.1662C>A p.D554E missense 0.00000824●●●●●●
398. 23887447 c.4141C>G p.Q1381E missense 0.00000824●●●●●●
399. 23885002 c.4993G>A p.D1665N missense 0.00000824●●●●●●
400. 23893328 c.2710C>T p.R904C missense 0.00000824●●●●●●
401. 23894984 c.2206A>G p.I736V missense 0.00000824●●●●●●
402. 23897081 c.1601T>C p.L534P missense 0.00000824●●●●●●
403. 23884956 c.5039T>C p.L1680P missense 0.00000824●●●●●●
404. 23896928 c.1754T>C p.I585T missense 0.00000824●●●●●●
405. 23898994 c.1128C>A p.D376E missense 0.00000824●●●●●●
406. 23896894 c.1788G>C p.K596N missense 0.00000824●●●●●●
407. 23891497 c.3137T>G p.M1046R missense 0.00000824●●●●●●
408. 23890185 c.3318G>T p.K1106N missense 0.00000824●●●●●●
409. 23884269 c.5494C>G p.R1832G missense 0.00000824●●●●●●
410. 23896033 c.1997A>G p.H666R missense 0.00000824●●●●●●
411. 23902295 c.343T>C p.Y115H missense 0.00000824●●●●●●
412. 23895201 c.2134C>T p.R712C missense 0.00000824●●●●●●
413. 23886185 c.4536G>C p.L1512F missense 0.00000824●●●●●●
414. 23884865 c.5130T>G p.S1710R missense 0.00000824●●●●●●
415. 23886163 c.4558G>A p.G1520R missense 0.00000824●●●●●●
416. 23884643 c.5230G>T p.A1744S missense 0.00000824●●●●●●
417. 23891426 c.3208G>A p.E1070K missense 0.00000824●●●●●●
418. 23888475 c.3883G>A p.E1295K missense 0.00000824●●●●●●
419. 23885415 c.4751A>G p.E1584G missense 0.00000824●●●●●●
420. 23884400 c.5363A>G p.Q1788R missense 0.00000824●●●●●●
421. 23894201 c.2456G>A p.R819Q 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.