MYH6 missense variants in ExAC

MYH6 gene summary
MYH6 variants in DCM

The table below lists the MYH6 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. 23861811 c.3302T>C p.V1101A missense 0.34609809●●●●●●
2. 23859610 c.3388G>A p.A1130T missense 0.10033088●●●●●●
3. 23876267 c.166G>A p.G56R missense 0.06979618●●●●●●
4. 23873940 c.622G>A p.D208N missense 0.00550374●●●●●●
5. 23858697 c.3883G>C p.E1295Q missense 0.00324531●●●●●●
6. 23862997 c.2806G>T p.A936S missense 0.00238856●●●●●●
7. 23868065 c.1763A>C p.D588A missense 0.00213337●●●●●●
8. 23857430 c.4293G>A p.M1431I missense 0.00174621●●●●●●
9. 23863383 c.2579G>A p.R860H missense 0.00166387●●●●●●
10. 23876347 c.86G>A p.R29Q missense 0.00149923●●●●●●
11. 23862646 c.3010G>T p.A1004S missense 0.00098013●●●●●●
12. 23871682 c.1132G>A p.G378S missense 0.00088192●●●●●●
13. 23866269 c.2071G>A p.V691I missense 0.00079097●●●●●●
14. 23871683 c.1131C>G p.D377E missense 0.00071705●●●●●●
15. 23876363 c.70C>A p.L24I missense 0.00070022●●●●●●
16. 23858107 c.4136C>T p.T1379M missense 0.00061789●●●●●●
17. 23862913 c.2890G>T p.A964S missense 0.00047771●●●●●●
18. 23862996 c.2807C>T p.A936V missense 0.00044477●●●●●●
19. 23872624 c.831G>T p.Q277H missense 0.00042011●●●●●●
20. 23855577 c.4906C>T p.R1636C missense 0.00042010●●●●●●
21. 23857530 c.4193G>A p.R1398Q missense 0.00038785●●●●●●
22. 23853806 c.5410C>A p.Q1804K missense 0.00037891●●●●●●
23. 23863348 c.2614C>T p.R872C missense 0.00032125●●●●●●
24. 23870085 c.1243G>A p.G415R missense 0.00027181●●●●●●
25. 23859490 c.3508G>A p.E1170K missense 0.00024932●●●●●●
26. 23874889 c.292G>A p.E98K missense 0.00023063●●●●●●
27. 23870076 c.1252G>A p.V418M missense 0.00023062●●●●●●
28. 23862177 c.3195G>C p.Q1065H missense 0.00023062●●●●●●
29. 23856793 c.4595G>T p.R1532L missense 0.00021420●●●●●●
30. 23871727 c.1087A>T p.M363L missense 0.00018947●●●●●●
31. 23857458 c.4265G>A p.R1422Q missense 0.00018945●●●●●●
32. 23855779 c.4704C>A p.N1568K missense 0.00018189●●●●●●
33. 23853725 c.5491G>A p.E1831K missense 0.00018132●●●●●●
34. 23856987 c.4505G>A p.R1502Q missense 0.00018124●●●●●●
35. 23858648 c.3932C>T p.T1311I missense 0.00018120●●●●●●
36. 23858216 c.4027G>A p.D1343N missense 0.00017438●●●●●●
37. 23872631 c.824T>A p.I275N missense 0.00017299●●●●●●
38. 23858263 c.3980C>T p.A1327V missense 0.00016994●●●●●●
39. 23870174 c.1154C>T p.S385L missense 0.00016519●●●●●●
40. 23868075 c.1753G>A p.G585S missense 0.00015650●●●●●●
41. 23863498 c.2464G>A p.A822T missense 0.00014849●●●●●●
42. 23855280 c.5020G>A p.A1674T missense 0.00014834●●●●●●
43. 23854213 c.5201C>T p.S1734L missense 0.00014826●●●●●●
44. 23862208 c.3164G>A p.R1055Q missense 0.00014002●●●●●●
45. 23858255 c.3988G>A p.A1330T missense 0.00013190●●●●●●
46. 23873951 c.611G>A p.R204H missense 0.00013180●●●●●●
47. 23855223 c.5077G>A p.V1693M missense 0.00012365●●●●●●
48. 23852450 c.5645G>A p.R1882H missense 0.00012360●●●●●●
49. 23857459 c.4264C>T p.R1422W missense 0.00012355●●●●●●
50. 23874936 c.245C>T p.P82L missense 0.00011531●●●●●●
51. 23858713 c.3867G>T p.L1289F missense 0.00011531●●●●●●
52. 23876366 c.67C>T p.R23C missense 0.00010709●●●●●●
53. 23870001 c.1327C>T p.R443C missense 0.00010708●●●●●●
54. 23869992 c.1336G>A p.A446T missense 0.00010708●●●●●●
55. 23862142 c.3230A>T p.Q1077L missense 0.00010707●●●●●●
56. 23856794 c.4594C>T p.R1532C missense 0.00009886●●●●●●
57. 23867943 c.1885G>A p.D629N missense 0.00009885●●●●●●
58. 23874503 c.431G>T p.G144V missense 0.00009884●●●●●●
59. 23858687 c.3893C>T p.A1298V missense 0.00009061●●●●●●
60. 23876318 c.115G>A p.V39M missense 0.00009061●●●●●●
61. 23851741 c.5692T>C p.F1898L missense 0.00009060●●●●●●
62. 23862173 c.3199A>G p.S1067G missense 0.00009060●●●●●●
63. 23859651 c.3347G>A p.R1116H missense 0.00008985●●●●●●
64. 23855817 c.4666G>A p.E1556K missense 0.00008390●●●●●●
65. 23853697 c.5519A>G p.K1840R missense 0.00008245●●●●●●
66. 23853923 c.5293G>A p.A1765T missense 0.00008245●●●●●●
67. 23866227 c.2113C>T p.R705C missense 0.00008241●●●●●●
68. 23852468 c.5627A>G p.K1876R missense 0.00008241●●●●●●
69. 23853757 c.5459G>A p.R1820Q missense 0.00008238●●●●●●
70. 23870000 c.1328G>A p.R443H missense 0.00008237●●●●●●
71. 23862194 c.3178G>A p.D1060N missense 0.00008237●●●●●●
72. 23863387 c.2575G>T p.G859W missense 0.00008237●●●●●●
73. 23871807 c.1007C>G p.A336G missense 0.00007421●●●●●●
74. 23865539 c.2383C>T p.R795W missense 0.00007421●●●●●●
75. 23858877 c.3784C>T p.R1262C missense 0.00007414●●●●●●
76. 23874525 c.409G>A p.E137K missense 0.00007414●●●●●●
77. 23855711 c.4772A>G p.N1591S missense 0.00007413●●●●●●
78. 23867960 c.1868C>T p.S623F missense 0.00007413●●●●●●
79. 23869560 c.1486G>A p.V496M missense 0.00007413●●●●●●
80. 23853676 c.5540G>A p.R1847Q missense 0.00006599●●●●●●
81. 23866253 c.2087G>A p.R696H missense 0.00006591●●●●●●
82. 23876272 c.161G>A p.R54Q missense 0.00006591●●●●●●
83. 23857395 c.4328C>A p.A1443D missense 0.00006590●●●●●●
84. 23853758 c.5458C>T p.R1820W missense 0.00006590●●●●●●
85. 23863351 c.2611C>T p.R871C missense 0.00006590●●●●●●
86. 23870067 c.1261G>A p.V421M missense 0.00006589●●●●●●
87. 23870084 c.1244G>C p.G415A missense 0.00006589●●●●●●
88. 23859652 c.3346C>A p.R1116S missense 0.00006301●●●●●●
89. 23865569 c.2353C>T p.R785C missense 0.00005780●●●●●●
90. 23871926 c.982G>A p.E328K missense 0.00005778●●●●●●
91. 23852501 c.5594G>A p.R1865Q missense 0.00005774●●●●●●
92. 23855205 c.5095C>T p.R1699W missense 0.00005771●●●●●●
93. 23876356 c.77C>G p.A26G missense 0.00005767●●●●●●
94. 23855736 c.4747G>A p.E1583K missense 0.00005767●●●●●●
95. 23853868 c.5348G>A p.R1783H missense 0.00005766●●●●●●
96. 23865989 c.2206C>A p.Q736K missense 0.00005766●●●●●●
97. 23857423 c.4300G>A p.V1434I missense 0.00005766●●●●●●
98. 23858853 c.3808C>T p.R1270C missense 0.00005766●●●●●●
99. 23855661 c.4822C>T p.R1608C missense 0.00005766●●●●●●
100. 23862975 c.2828G>A p.R943H missense 0.00005765●●●●●●
101. 23865616 c.2306C>T p.A769V missense 0.00004998●●●●●●
102. 23855199 c.5101C>T p.R1701W missense 0.00004948●●●●●●
103. 23855301 c.4999G>A p.D1667N missense 0.00004946●●●●●●
104. 23853731 c.5485G>C p.E1829Q missense 0.00004945●●●●●●
105. 23857492 c.4231G>A p.A1411T missense 0.00004943●●●●●●
106. 23858903 c.3758C>T p.T1253M missense 0.00004943●●●●●●
107. 23857507 c.4216G>A p.V1406M missense 0.00004943●●●●●●
108. 23874868 c.313C>A p.L105I missense 0.00004943●●●●●●
109. 23871766 c.1048G>A p.V350I missense 0.00004943●●●●●●
110. 23868200 c.1628A>G p.K543R missense 0.00004942●●●●●●
111. 23869981 c.1347G>T p.E449D missense 0.00004942●●●●●●
112. 23863087 c.2716C>T p.R906C missense 0.00004942●●●●●●
113. 23859652 c.3346C>T p.R1116C missense 0.00004501●●●●●●
114. 23872967 c.756C>G p.H252Q missense 0.00004259●●●●●●
115. 23855331 c.4969A>G p.I1657V missense 0.00004125●●●●●●
116. 23855760 c.4723G>A p.E1575K missense 0.00004124●●●●●●
117. 23858161 c.4082G>A p.R1361H missense 0.00004123●●●●●●
118. 23858159 c.4084G>A p.V1362I missense 0.00004122●●●●●●
119. 23853703 c.5513C>T p.S1838L missense 0.00004122●●●●●●
120. 23865523 c.2399G>A p.R800H missense 0.00004121●●●●●●
121. 23852453 c.5642A>G p.K1881R missense 0.00004120●●●●●●
122. 23858874 c.3787G>A p.V1263M missense 0.00004119●●●●●●
123. 23863422 c.2540C>T p.T847M missense 0.00004119●●●●●●
124. 23874978 c.203C>T p.T68M missense 0.00004119●●●●●●
125. 23858602 c.3978G>C p.K1326N missense 0.00004119●●●●●●
126. 23874877 c.304C>A p.L102I missense 0.00004119●●●●●●
127. 23855655 c.4828C>T p.R1610C missense 0.00004118●●●●●●
128. 23874459 c.475G>A p.D159N missense 0.00004118●●●●●●
129. 23858666 c.3914G>A p.R1305Q missense 0.00004118●●●●●●
130. 23858708 c.3872G>A p.R1291Q missense 0.00004118●●●●●●
131. 23851743 c.5690A>G p.K1897R missense 0.00004118●●●●●●
132. 23862691 c.2965G>A p.E989K missense 0.00004118●●●●●●
133. 23862976 c.2827C>T p.R943C missense 0.00004118●●●●●●
134. 23862152 c.3220G>A p.D1074N missense 0.00004118●●●●●●
135. 23858207 c.4036C>T p.R1346W missense 0.00003315●●●●●●
136. 23855163 c.5137G>A p.E1713K missense 0.00003304●●●●●●
137. 23863522 c.2440C>A p.L814M missense 0.00003304●●●●●●
138. 23857531 c.4192C>T p.R1398W missense 0.00003302●●●●●●
139. 23865556 c.2366G>A p.R789H missense 0.00003301●●●●●●
140. 23865538 c.2384G>A p.R795Q missense 0.00003298●●●●●●
141. 23871675 c.1139A>C p.E380A missense 0.00003298●●●●●●
142. 23855756 c.4727G>A p.R1576Q missense 0.00003298●●●●●●
143. 23853715 c.5501G>A p.R1834H missense 0.00003297●●●●●●
144. 23853710 c.5506G>A p.A1836T missense 0.00003297●●●●●●
145. 23857516 c.4207G>A p.E1403K missense 0.00003296●●●●●●
146. 23871706 c.1108C>T p.R370W missense 0.00003296●●●●●●
147. 23866242 c.2098G>A p.V700M missense 0.00003296●●●●●●
148. 23855654 c.4829G>A p.R1610H missense 0.00003295●●●●●●
149. 23857417 c.4306C>T p.R1436C missense 0.00003295●●●●●●
150. 23863081 c.2722G>A p.D908N missense 0.00003295●●●●●●
151. 23862667 c.2989G>C p.E997Q missense 0.00003295●●●●●●
152. 23858102 c.4141G>A p.A1381T missense 0.00003295●●●●●●
153. 23855685 c.4798C>A p.Q1600K missense 0.00003295●●●●●●
154. 23863086 c.2717G>A p.R906H missense 0.00003295●●●●●●
155. 23865497 c.2425C>T p.R809C missense 0.00003295●●●●●●
156. 23858808 c.3853G>A p.E1285K missense 0.00003295●●●●●●
157. 23857416 c.4307G>A p.R1436H missense 0.00003295●●●●●●
158. 23863347 c.2615G>A p.R872H missense 0.00003295●●●●●●
159. 23865937 c.2258T>C p.I753T missense 0.00003295●●●●●●
160. 23851738 c.5695C>T p.R1899C missense 0.00003295●●●●●●
161. 23851739 c.5694C>G p.F1898L missense 0.00003295●●●●●●
162. 23853880 c.5336C>A p.A1779D missense 0.00003295●●●●●●
163. 23854136 c.5278G>A p.A1760T missense 0.00003295●●●●●●
164. 23868125 c.1703G>A p.R568H missense 0.00003295●●●●●●
165. 23863362 c.2600A>G p.K867R missense 0.00003295●●●●●●
166. 23859615 c.3383G>A p.R1128H missense 0.00002794●●●●●●
167. 23859484 c.3514G>A p.E1172K missense 0.00002561●●●●●●
168. 23871967 c.941T>C p.V314A missense 0.00002482●●●●●●
169. 23855159 c.5141G>A p.R1714Q missense 0.00002480●●●●●●
170. 23870172 c.1156G>A p.A386T missense 0.00002477●●●●●●
171. 23871947 c.961G>A p.V321M missense 0.00002477●●●●●●
172. 23855770 c.4713G>T p.K1571N missense 0.00002477●●●●●●
173. 23871932 c.976G>A p.D326N missense 0.00002476●●●●●●
174. 23865559 c.2363C>T p.T788M missense 0.00002476●●●●●●
175. 23852502 c.5593C>T p.R1865W missense 0.00002475●●●●●●
176. 23855198 c.5102G>A p.R1701Q missense 0.00002474●●●●●●
177. 23855310 c.4990C>T p.R1664C missense 0.00002473●●●●●●
178. 23871799 c.1015G>A p.V339M missense 0.00002473●●●●●●
179. 23855298 c.5002G>A p.D1668N missense 0.00002473●●●●●●
180. 23873927 c.635C>T p.A212V missense 0.00002473●●●●●●
181. 23865524 c.2398C>T p.R800C missense 0.00002473●●●●●●
182. 23866780 c.1934C>T p.S645F missense 0.00002473●●●●●●
183. 23852439 c.5656G>A p.E1886K missense 0.00002472●●●●●●
184. 23855267 c.5033G>A p.R1678Q missense 0.00002472●●●●●●
185. 23866455 c.1974C>A p.N658K missense 0.00002472●●●●●●
186. 23855268 c.5032C>T p.R1678W missense 0.00002472●●●●●●
187. 23865521 c.2401A>G p.I801V missense 0.00002472●●●●●●
188. 23871726 c.1088T>C p.M363T missense 0.00002471●●●●●●
189. 23853800 c.5416G>A p.A1806T missense 0.00002471●●●●●●
190. 23867966 c.1862T>A p.L621H missense 0.00002471●●●●●●
191. 23855690 c.4793C>T p.S1598L missense 0.00002471●●●●●●
192. 23862727 c.2929G>C p.V977L missense 0.00002471●●●●●●
193. 23874453 c.481G>A p.A161T missense 0.00002471●●●●●●
194. 23858859 c.3802G>T p.A1268S missense 0.00002471●●●●●●
195. 23863387 c.2575G>A p.G859R missense 0.00002471●●●●●●
196. 23862583 c.3073T>A p.S1025T missense 0.00002471●●●●●●
197. 23854154 c.5260G>A p.E1754K missense 0.00002471●●●●●●
198. 23876273 c.160C>T p.R54W missense 0.00002471●●●●●●
199. 23862976 c.2827C>A p.R943S missense 0.00002471●●●●●●
200. 23876333 c.100C>T p.R34C missense 0.00002471●●●●●●
201. 23873528 c.712C>T p.R238W missense 0.00002471●●●●●●
202. 23866022 c.2173C>T p.R725C missense 0.00002471●●●●●●
203. 23855714 c.4769G>A p.R1590H missense 0.00002471●●●●●●
204. 23869554 c.1492G>A p.E498K missense 0.00002471●●●●●●
205. 23868126 c.1702C>T p.R568C missense 0.00002471●●●●●●
206. 23851702 c.5731C>T p.R1911W missense 0.00002471●●●●●●
207. 23866276 c.2064C>A p.N688K missense 0.00002471●●●●●●
208. 23856793 c.4595G>A p.R1532H missense 0.00002471●●●●●●
209. 23862568 c.3088G>C p.E1030Q missense 0.00002471●●●●●●
210. 23874530 c.404A>G p.N135S missense 0.00002471●●●●●●
211. 23851727 c.5706G>T p.Q1902H missense 0.00002471●●●●●●
212. 23855609 c.4874A>G p.N1625S missense 0.00002471●●●●●●
213. 23873561 c.679G>A p.A227T missense 0.00002471●●●●●●
214. 23861814 c.3299A>T p.Q1100L missense 0.00002471●●●●●●
215. 23855583 c.4900G>A p.A1634T missense 0.00002471●●●●●●
216. 23861812 c.3301G>A p.V1101M missense 0.00002471●●●●●●
217. 23872977 c.746T>C p.I249T missense 0.00002200●●●●●●
218. 23859655 c.3343G>A p.A1115T missense 0.00001810●●●●●●
219. 23858227 c.4016G>A p.R1339Q missense 0.00001669●●●●●●
220. 23857131 c.4361T>A p.I1454N missense 0.00001665●●●●●●
221. 23857123 c.4369G>A p.E1457K missense 0.00001663●●●●●●
222. 23857105 c.4387G>A p.E1463K missense 0.00001660●●●●●●
223. 23857101 c.4391A>C p.E1464A missense 0.00001659●●●●●●
224. 23865593 c.2329G>A p.E777K missense 0.00001656●●●●●●
225. 23865590 c.2332A>T p.M778L missense 0.00001655●●●●●●
226. 23857541 c.4182G>C p.K1394N missense 0.00001655●●●●●●
227. 23857072 c.4420A>G p.K1474E missense 0.00001654●●●●●●
228. 23857062 c.4430G>A p.R1477H missense 0.00001652●●●●●●
229. 23871908 c.1000G>A p.D334N missense 0.00001652●●●●●●
230. 23857063 c.4429C>T p.R1477C missense 0.00001652●●●●●●
231. 23871906 c.1002T>A p.D334E missense 0.00001652●●●●●●
232. 23858195 c.4048G>A p.E1350K missense 0.00001652●●●●●●
233. 23855165 c.5135G>T p.S1712I missense 0.00001651●●●●●●
234. 23865557 c.2365C>T p.R789C missense 0.00001651●●●●●●
235. 23853674 c.5542C>T p.R1848C missense 0.00001650●●●●●●
236. 23866783 c.1931C>T p.S644L missense 0.00001649●●●●●●
237. 23876243 c.190G>A p.E64K missense 0.00001649●●●●●●
238. 23855204 c.5096G>A p.R1699Q missense 0.00001649●●●●●●
239. 23871807 c.1007C>A p.A336D missense 0.00001649●●●●●●
240. 23858162 c.4081C>T p.R1361C missense 0.00001649●●●●●●
241. 23855315 c.4985C>T p.A1662V missense 0.00001649●●●●●●
242. 23876426 c.7G>A p.D3N missense 0.00001649●●●●●●
243. 23869920 c.1408G>A p.D470N missense 0.00001649●●●●●●
244. 23857037 c.4455G>C p.K1485N missense 0.00001649●●●●●●
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492. 23853752 c.5464C>G p.R1822G missense 0.00000824●●●●●●
493. 23873510 c.730C>T p.R244C missense 0.00000824●●●●●●
494. 23868078 c.1750G>A p.A584T missense 0.00000824●●●●●●
495. 23862588 c.3068C>T p.S1023F missense 0.00000824●●●●●●
496. 23856974 c.4518C>A p.N1506K missense 0.00000824●●●●●●
497. 23856799 c.4589A>T p.K1530M missense 0.00000824●●●●●●
498. 23853701 c.5515G>T p.V1839L missense 0.00000824●●●●●●
499. 23874937 c.244C>T p.P82S missense 0.00000824●●●●●●
500. 23868039 c.1789A>G p.K597E missense 0.00000824●●●●●●
501. 23865916 c.2279T>C p.F760S missense 0.00000824●●●●●●
502. 23874853 c.328G>A p.A110T missense 0.00000824●●●●●●
503. 23858140 c.4103C>T p.S1368L missense 0.00000824●●●●●●
504. 23857429 c.4294G>A p.V1432M missense 0.00000824●●●●●●
505. 23874576 c.358C>G p.L120V missense 0.00000824●●●●●●
506. 23871689 c.1125G>T p.E375D missense 0.00000824●●●●●●
507. 23865524 c.2398C>A p.R800S missense 0.00000824●●●●●●
508. 23855715 c.4768C>A p.R1590S missense 0.00000824●●●●●●
509. 23862217 c.3155G>A p.R1052Q missense 0.00000824●●●●●●
510. 23851690 c.5743G>A p.A1915T missense 0.00000824●●●●●●
511. 23874488 c.446A>T p.E149V missense 0.00000824●●●●●●
512. 23866754 c.1960C>T p.R654W missense 0.00000824●●●●●●
513. 23866417 c.2012T>G p.F671C missense 0.00000824●●●●●●
514. 23863377 c.2585A>G p.K862R missense 0.00000824●●●●●●
515. 23869499 c.1547T>C p.M516T missense 0.00000824●●●●●●
516. 23858859 c.3802G>A p.A1268T missense 0.00000824●●●●●●
517. 23858852 c.3809G>A p.R1270H missense 0.00000824●●●●●●
518. 23857371 c.4352T>C p.F1451S missense 0.00000824●●●●●●
519. 23853865 c.5351T>A p.M1784K missense 0.00000824●●●●●●
520. 23869539 c.1507A>G p.K503E missense 0.00000824●●●●●●
521. 23866275 c.2065C>A p.P689T missense 0.00000824●●●●●●
522. 23853824 c.5392C>T p.R1798W missense 0.00000824●●●●●●
523. 23868032 c.1796A>T p.K599M missense 0.00000824●●●●●●
524. 23853762 c.5454A>T p.E1818D missense 0.00000824●●●●●●
525. 23876258 c.175G>A p.V59I missense 0.00000824●●●●●●
526. 23872617 c.838G>T p.A280S missense 0.00000824●●●●●●
527. 23868178 c.1650G>C p.K550N missense 0.00000824●●●●●●
528. 23853735 c.5481G>C p.E1827D missense 0.00000824●●●●●●
529. 23863409 c.2553G>A p.M851I missense 0.00000824●●●●●●
530. 23868090 c.1738C>A p.L580M missense 0.00000824●●●●●●
531. 23853692 c.5524A>G p.M1842V missense 0.00000824●●●●●●
532. 23868012 c.1816G>A p.V606I missense 0.00000824●●●●●●
533. 23867997 c.1831C>A p.Q611K missense 0.00000824●●●●●●
534. 23862565 c.3091C>A p.Q1031K missense 0.00000824●●●●●●
535. 23862235 c.3137T>C p.V1046A missense 0.00000824●●●●●●
536. 23856767 c.4621G>C p.E1541Q missense 0.00000824●●●●●●
537. 23856803 c.4585G>A p.E1529K missense 0.00000824●●●●●●
538. 23870122 c.1206C>A p.H402Q missense 0.00000824●●●●●●
539. 23863434 c.2528A>G p.K843R missense 0.00000824●●●●●●
540. 23862137 c.3235G>C p.E1079Q missense 0.00000824●●●●●●
541. 23874919 c.262G>C p.E88Q missense 0.00000824●●●●●●
542. 23861826 c.3287T>A p.I1096N missense 0.00000824●●●●●●
543. 23858103 c.4140C>G p.D1380E missense 0.00000824●●●●●●
544. 23854231 c.5183A>G p.Q1728R missense 0.00000824●●●●●●
545. 23854211 c.5203G>A p.D1735N missense 0.00000824●●●●●●
546. 23863304 c.2658G>C p.K886N missense 0.00000824●●●●●●
547. 23855691 c.4792T>C p.S1598P missense 0.00000824●●●●●●
548. 23853895 c.5321A>G p.E1774G missense 0.00000824●●●●●●
549. 23874432 c.502G>A p.D168N missense 0.00000824●●●●●●
550. 23855660 c.4823G>A p.R1608H missense 0.00000824●●●●●●
551. 23853875 c.5341C>A p.L1781M missense 0.00000824●●●●●●
552. 23851644 c.5789G>A p.G1930D missense 0.00000824●●●●●●
553. 23873979 c.583T>C p.F195L missense 0.00000824●●●●●●
554. 23866379 c.2050G>C p.G684R missense 0.00000824●●●●●●
555. 23874494 c.440G>A p.R147K missense 0.00000824●●●●●●
556. 23876339 c.94G>C p.D32H missense 0.00000824●●●●●●
557. 23873546 c.694G>A p.G232S missense 0.00000824●●●●●●
558. 23855534 c.4949G>A p.S1650N missense 0.00000824●●●●●●
559. 23853812 c.5404G>A p.A1802T missense 0.00000824●●●●●●
560. 23869468 c.1578G>C p.E526D missense 0.00000824●●●●●●
561. 23866223 c.2117T>A p.I706N missense 0.00000824●●●●●●
562. 23862997 c.2806G>A p.A936T missense 0.00000824●●●●●●
563. 23868087 c.1741A>G p.I581V missense 0.00000824●●●●●●
564. 23871753 c.1061C>T p.T354M missense 0.00000824●●●●●●
565. 23858804 c.3857A>T p.N1286I missense 0.00000824●●●●●●
566. 23855576 c.4907G>A p.R1636H missense 0.00000824●●●●●●
567. 23868044 c.1784T>A p.L595Q missense 0.00000824●●●●●●
568. 23865927 c.2268C>A p.N756K missense 0.00000824●●●●●●
569. 23862672 c.2984C>G p.T995S missense 0.00000824●●●●●●
570. 23862245 c.3127G>C p.E1043Q missense 0.00000824●●●●●●
571. 23856974 c.4518C>G p.N1506K missense 0.00000824●●●●●●
572. 23874970 c.211G>A p.V71M missense 0.00000824●●●●●●
573. 23872568 c.887C>T p.P296L missense 0.00000824●●●●●●
574. 23856832 c.4556G>A p.G1519E missense 0.00000824●●●●●●
575. 23865521 c.2401A>T p.I801F missense 0.00000824●●●●●●
576. 23862221 c.3151G>A p.E1051K missense 0.00000824●●●●●●
577. 23862957 c.2846G>A p.C949Y missense 0.00000824●●●●●●
578. 23867987 c.1841C>T p.S614F missense 0.00000824●●●●●●
579. 23857468 c.4255A>C p.T1419P missense 0.00000824●●●●●●
580. 23855740 c.4743G>T p.K1581N missense 0.00000824●●●●●●
581. 23854147 c.5267A>G p.K1756R missense 0.00000824●●●●●●
582. 23870007 c.1321G>A p.V441M missense 0.00000824●●●●●●
583. 23866762 c.1952C>T p.A651V missense 0.00000824●●●●●●
584. 23863395 c.2567A>G p.E856G missense 0.00000824●●●●●●
585. 23851665 c.5768G>A p.R1923Q missense 0.00000824●●●●●●
586. 23863386 c.2576G>C p.G859A missense 0.00000824●●●●●●
587. 23858086 c.4157A>T p.E1386V missense 0.00000824●●●●●●
588. 23876360 c.73G>A p.E25K missense 0.00000824●●●●●●
589. 23876312 c.121G>A p.D41N missense 0.00000824●●●●●●
590. 23858874 c.3787G>T p.V1263L missense 0.00000824●●●●●●
591. 23857410 c.4313A>T p.N1438I missense 0.00000824●●●●●●
592. 23855633 c.4850A>C p.K1617T missense 0.00000824●●●●●●
593. 23876398 c.35C>T p.A12V missense 0.00000824●●●●●●
594. 23855647 c.4836G>C p.E1612D missense 0.00000824●●●●●●
595. 23873937 c.625A>G p.N209D missense 0.00000824●●●●●●
596. 23870143 c.1185C>G p.D395E missense 0.00000824●●●●●●
597. 23868101 c.1727C>T p.A576V missense 0.00000824●●●●●●
598. 23866178 c.2162G>A p.R721Q missense 0.00000824●●●●●●
599. 23862909 c.2894A>C p.K965T missense 0.00000824●●●●●●
600. 23858720 c.3860G>A p.G1287E missense 0.00000824●●●●●●
601. 23876314 c.119C>T p.P40L missense 0.00000824●●●●●●
602. 23858667 c.3913C>T p.R1305W missense 0.00000824●●●●●●
603. 23853788 c.5428G>A p.G1810S missense 0.00000824●●●●●●
604. 23872640 c.815C>T p.S272F missense 0.00000824●●●●●●
605. 23866199 c.2141G>A p.R714H missense 0.00000824●●●●●●
606. 23865982 c.2213T>C p.I738T missense 0.00000824●●●●●●
607. 23855229 c.5071C>T p.R1691C missense 0.00000824●●●●●●
608. 23853694 c.5522G>A p.G1841D missense 0.00000824●●●●●●
609. 23874913 c.268A>G p.M90V missense 0.00000824●●●●●●
610. 23868023 c.1805T>C p.L602P missense 0.00000824●●●●●●
611. 23868003 c.1825C>A p.L609M missense 0.00000824●●●●●●
612. 23867962 c.1866C>A p.F622L missense 0.00000824●●●●●●
613. 23854222 c.5192A>T p.K1731M missense 0.00000824●●●●●●
614. 23851768 c.5665G>A p.E1889K missense 0.00000824●●●●●●
615. 23855612 c.4871T>C p.L1624P missense 0.00000824●●●●●●
616. 23867937 c.1891G>A p.G631R missense 0.00000824●●●●●●
617. 23863459 c.2503T>C p.Y835H missense 0.00000824●●●●●●
618. 23858150 c.4093A>G p.K1365E missense 0.00000824●●●●●●
619. 23856773 c.4615A>C p.K1539Q missense 0.00000824●●●●●●
620. 23862152 c.3220G>T p.D1074Y missense 0.00000824●●●●●●
621. 23866396 c.2033A>G p.N678S missense 0.00000824●●●●●●
622. 23863357 c.2605G>A p.E869K missense 0.00000824●●●●●●
623. 23857431 c.4292T>C p.M1431T missense 0.00000824●●●●●●
624. 23858912 c.3749T>A p.V1250E missense 0.00000824●●●●●●
625. 23857428 c.4295T>A p.V1432E missense 0.00000824●●●●●●
626. 23855715 c.4768C>T p.R1590C missense 0.00000824●●●●●●
627. 23869956 c.1372A>G p.I458V missense 0.00000824●●●●●●
628. 23851645 c.5788G>C p.G1930R missense 0.00000824●●●●●●
629. 23858823 c.3838G>A p.A1280T missense 0.00000824●●●●●●
630. 23853827 c.5389C>G p.H1797D missense 0.00000824●●●●●●
631. 23876344 c.89C>G p.P30R missense 0.00000824●●●●●●
632. 23869524 c.1522G>C p.E508Q missense 0.00000824●●●●●●
633. 23855565 c.4918G>A p.E1640K missense 0.00000824●●●●●●
634. 23853815 c.5401G>A p.E1801K missense 0.00000824●●●●●●
635. 23870021 c.1307T>C p.M436T missense 0.00000824●●●●●●
636. 23869481 c.1565T>C p.I522T missense 0.00000824●●●●●●
637. 23866224 c.2116A>T p.I706F missense 0.00000824●●●●●●
638. 23863075 c.2728C>A p.L910M missense 0.00000824●●●●●●
639. 23858858 c.3803C>G p.A1268G missense 0.00000824●●●●●●
640. 23855261 c.5039A>T p.N1680I missense 0.00000824●●●●●●
641. 23872573 c.882G>C p.K294N missense 0.00000824●●●●●●
642. 23868045 c.1783C>G p.L595V missense 0.00000824●●●●●●
643. 23865973 c.2222G>A p.R741K missense 0.00000824●●●●●●
644. 23862682 c.2974G>A p.A992T missense 0.00000824●●●●●●
645. 23870052 c.1276G>A p.G426R missense 0.00000824●●●●●●
646. 23856988 c.4504C>T p.R1502W missense 0.00000824●●●●●●
647. 23855309 c.4991G>A p.R1664H missense 0.00000824●●●●●●
648. 23857405 c.4318G>C p.A1440P missense 0.00000824●●●●●●
649. 23867988 c.1840T>G p.S614A missense 0.00000824●●●●●●
650. 23862248 c.3124C>A p.Q1042K missense 0.00000824●●●●●●
651. 23862232 c.3140G>A p.R1047H missense 0.00000824●●●●●●
652. 23856761 c.4627C>A p.Q1543K missense 0.00000824●●●●●●
653. 23871800 c.1014C>A p.D338E missense 0.00000824●●●●●●
654. 23852489 c.5606T>C p.L1869P missense 0.00000824●●●●●●
655. 23858093 c.4150C>T p.R1384W missense 0.00000824●●●●●●
656. 23854154 c.5260G>C p.E1754Q missense 0.00000824●●●●●●
657. 23851726 c.5707C>A p.H1903N missense 0.00000824●●●●●●
658. 23874507 c.427C>T p.R143W missense 0.00000824●●●●●●
659. 23870027 c.1301A>C p.E434A 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.