MYH7 non-truncating variants in ExAC

MYH7 gene summary
MYH7 variants in HCM, DCM

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