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