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. 23862177 c.3195G>C p.Q1065H missense 0.00023062●●●●●●
28. 23870076 c.1252G>A p.V418M 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. 23858713 c.3867G>T p.L1289F missense 0.00011531●●●●●●
51. 23874936 c.245C>T p.P82L 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. 23876318 c.115G>A p.V39M missense 0.00009061●●●●●●
60. 23858687 c.3893C>T p.A1298V missense 0.00009061●●●●●●
61. 23862173 c.3199A>G p.S1067G missense 0.00009060●●●●●●
62. 23851741 c.5692T>C p.F1898L missense 0.00009060●●●●●●
63. 23859651 c.3347G>A p.R1116H missense 0.00008985●●●●●●
64. 23855817 c.4666G>A p.E1556K missense 0.00008390●●●●●●
65. 23853923 c.5293G>A p.A1765T missense 0.00008245●●●●●●
66. 23853697 c.5519A>G p.K1840R missense 0.00008245●●●●●●
67. 23852468 c.5627A>G p.K1876R missense 0.00008241●●●●●●
68. 23866227 c.2113C>T p.R705C 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. 23867960 c.1868C>T p.S623F missense 0.00007413●●●●●●
78. 23869560 c.1486G>A p.V496M missense 0.00007413●●●●●●
79. 23855711 c.4772A>G p.N1591S 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. 23853758 c.5458C>T p.R1820W missense 0.00006590●●●●●●
84. 23863351 c.2611C>T p.R871C missense 0.00006590●●●●●●
85. 23857395 c.4328C>A p.A1443D missense 0.00006590●●●●●●
86. 23870084 c.1244G>C p.G415A missense 0.00006589●●●●●●
87. 23870067 c.1261G>A p.V421M 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. 23855736 c.4747G>A p.E1583K missense 0.00005767●●●●●●
94. 23876356 c.77C>G p.A26G missense 0.00005767●●●●●●
95. 23857423 c.4300G>A p.V1434I missense 0.00005766●●●●●●
96. 23858853 c.3808C>T p.R1270C missense 0.00005766●●●●●●
97. 23855661 c.4822C>T p.R1608C missense 0.00005766●●●●●●
98. 23853868 c.5348G>A p.R1783H missense 0.00005766●●●●●●
99. 23865989 c.2206C>A p.Q736K 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. 23874868 c.313C>A p.L105I missense 0.00004943●●●●●●
106. 23857507 c.4216G>A p.V1406M missense 0.00004943●●●●●●
107. 23871766 c.1048G>A p.V350I missense 0.00004943●●●●●●
108. 23857492 c.4231G>A p.A1411T missense 0.00004943●●●●●●
109. 23858903 c.3758C>T p.T1253M 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. 23853703 c.5513C>T p.S1838L missense 0.00004122●●●●●●
119. 23858159 c.4084G>A p.V1362I missense 0.00004122●●●●●●
120. 23865523 c.2399G>A p.R800H missense 0.00004121●●●●●●
121. 23852453 c.5642A>G p.K1881R missense 0.00004120●●●●●●
122. 23858602 c.3978G>C p.K1326N missense 0.00004119●●●●●●
123. 23874978 c.203C>T p.T68M missense 0.00004119●●●●●●
124. 23874877 c.304C>A p.L102I missense 0.00004119●●●●●●
125. 23858874 c.3787G>A p.V1263M missense 0.00004119●●●●●●
126. 23863422 c.2540C>T p.T847M missense 0.00004119●●●●●●
127. 23858666 c.3914G>A p.R1305Q missense 0.00004118●●●●●●
128. 23858708 c.3872G>A p.R1291Q missense 0.00004118●●●●●●
129. 23851743 c.5690A>G p.K1897R missense 0.00004118●●●●●●
130. 23862691 c.2965G>A p.E989K missense 0.00004118●●●●●●
131. 23862976 c.2827C>T p.R943C missense 0.00004118●●●●●●
132. 23862152 c.3220G>A p.D1074N missense 0.00004118●●●●●●
133. 23855655 c.4828C>T p.R1610C missense 0.00004118●●●●●●
134. 23874459 c.475G>A p.D159N 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. 23871675 c.1139A>C p.E380A missense 0.00003298●●●●●●
141. 23855756 c.4727G>A p.R1576Q missense 0.00003298●●●●●●
142. 23865538 c.2384G>A p.R795Q missense 0.00003298●●●●●●
143. 23853715 c.5501G>A p.R1834H missense 0.00003297●●●●●●
144. 23853710 c.5506G>A p.A1836T missense 0.00003297●●●●●●
145. 23871706 c.1108C>T p.R370W missense 0.00003296●●●●●●
146. 23866242 c.2098G>A p.V700M missense 0.00003296●●●●●●
147. 23857516 c.4207G>A p.E1403K missense 0.00003296●●●●●●
148. 23865497 c.2425C>T p.R809C missense 0.00003295●●●●●●
149. 23858808 c.3853G>A p.E1285K missense 0.00003295●●●●●●
150. 23863347 c.2615G>A p.R872H missense 0.00003295●●●●●●
151. 23857416 c.4307G>A p.R1436H missense 0.00003295●●●●●●
152. 23865937 c.2258T>C p.I753T missense 0.00003295●●●●●●
153. 23851738 c.5695C>T p.R1899C missense 0.00003295●●●●●●
154. 23851739 c.5694C>G p.F1898L missense 0.00003295●●●●●●
155. 23853880 c.5336C>A p.A1779D missense 0.00003295●●●●●●
156. 23854136 c.5278G>A p.A1760T missense 0.00003295●●●●●●
157. 23868125 c.1703G>A p.R568H missense 0.00003295●●●●●●
158. 23863362 c.2600A>G p.K867R missense 0.00003295●●●●●●
159. 23855654 c.4829G>A p.R1610H missense 0.00003295●●●●●●
160. 23857417 c.4306C>T p.R1436C missense 0.00003295●●●●●●
161. 23863081 c.2722G>A p.D908N missense 0.00003295●●●●●●
162. 23862667 c.2989G>C p.E997Q missense 0.00003295●●●●●●
163. 23858102 c.4141G>A p.A1381T missense 0.00003295●●●●●●
164. 23855685 c.4798C>A p.Q1600K missense 0.00003295●●●●●●
165. 23863086 c.2717G>A p.R906H 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. 23871799 c.1015G>A p.V339M missense 0.00002473●●●●●●
178. 23855298 c.5002G>A p.D1668N missense 0.00002473●●●●●●
179. 23873927 c.635C>T p.A212V missense 0.00002473●●●●●●
180. 23865524 c.2398C>T p.R800C missense 0.00002473●●●●●●
181. 23866780 c.1934C>T p.S645F missense 0.00002473●●●●●●
182. 23855310 c.4990C>T p.R1664C missense 0.00002473●●●●●●
183. 23865521 c.2401A>G p.I801V missense 0.00002472●●●●●●
184. 23852439 c.5656G>A p.E1886K missense 0.00002472●●●●●●
185. 23855267 c.5033G>A p.R1678Q missense 0.00002472●●●●●●
186. 23866455 c.1974C>A p.N658K missense 0.00002472●●●●●●
187. 23855268 c.5032C>T p.R1678W missense 0.00002472●●●●●●
188. 23873528 c.712C>T p.R238W missense 0.00002471●●●●●●
189. 23866022 c.2173C>T p.R725C missense 0.00002471●●●●●●
190. 23855714 c.4769G>A p.R1590H missense 0.00002471●●●●●●
191. 23869554 c.1492G>A p.E498K missense 0.00002471●●●●●●
192. 23868126 c.1702C>T p.R568C missense 0.00002471●●●●●●
193. 23851702 c.5731C>T p.R1911W missense 0.00002471●●●●●●
194. 23866276 c.2064C>A p.N688K missense 0.00002471●●●●●●
195. 23856793 c.4595G>A p.R1532H missense 0.00002471●●●●●●
196. 23862568 c.3088G>C p.E1030Q missense 0.00002471●●●●●●
197. 23874530 c.404A>G p.N135S missense 0.00002471●●●●●●
198. 23851727 c.5706G>T p.Q1902H missense 0.00002471●●●●●●
199. 23855609 c.4874A>G p.N1625S missense 0.00002471●●●●●●
200. 23873561 c.679G>A p.A227T missense 0.00002471●●●●●●
201. 23861814 c.3299A>T p.Q1100L missense 0.00002471●●●●●●
202. 23855583 c.4900G>A p.A1634T missense 0.00002471●●●●●●
203. 23861812 c.3301G>A p.V1101M missense 0.00002471●●●●●●
204. 23871726 c.1088T>C p.M363T missense 0.00002471●●●●●●
205. 23853800 c.5416G>A p.A1806T missense 0.00002471●●●●●●
206. 23867966 c.1862T>A p.L621H missense 0.00002471●●●●●●
207. 23855690 c.4793C>T p.S1598L missense 0.00002471●●●●●●
208. 23862727 c.2929G>C p.V977L missense 0.00002471●●●●●●
209. 23874453 c.481G>A p.A161T missense 0.00002471●●●●●●
210. 23858859 c.3802G>T p.A1268S missense 0.00002471●●●●●●
211. 23863387 c.2575G>A p.G859R missense 0.00002471●●●●●●
212. 23862583 c.3073T>A p.S1025T missense 0.00002471●●●●●●
213. 23854154 c.5260G>A p.E1754K missense 0.00002471●●●●●●
214. 23876273 c.160C>T p.R54W missense 0.00002471●●●●●●
215. 23862976 c.2827C>A p.R943S missense 0.00002471●●●●●●
216. 23876333 c.100C>T p.R34C 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. 23857541 c.4182G>C p.K1394N missense 0.00001655●●●●●●
226. 23865590 c.2332A>T p.M778L missense 0.00001655●●●●●●
227. 23857072 c.4420A>G p.K1474E missense 0.00001654●●●●●●
228. 23871908 c.1000G>A p.D334N missense 0.00001652●●●●●●
229. 23857063 c.4429C>T p.R1477C missense 0.00001652●●●●●●
230. 23871906 c.1002T>A p.D334E missense 0.00001652●●●●●●
231. 23858195 c.4048G>A p.E1350K missense 0.00001652●●●●●●
232. 23857062 c.4430G>A p.R1477H 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. 23858162 c.4081C>T p.R1361C missense 0.00001649●●●●●●
237. 23855315 c.4985C>T p.A1662V missense 0.00001649●●●●●●
238. 23876426 c.7G>A p.D3N missense 0.00001649●●●●●●
239. 23869920 c.1408G>A p.D470N missense 0.00001649●●●●●●
240. 23857037 c.4455G>C p.K1485N missense 0.00001649●●●●●●
241. 23866768 c.1946T>C p.V649A missense 0.00001649●●●●●●
242. 23870162 c.1166T>C p.M389T missense 0.00001649●●●●●●
243. 23869920 c.1408G>T p.D470Y missense 0.00001649●●●●●●
244. 23866783 c.1931C>T p.S644L missense 0.00001649●●●●●●
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491. 23858667 c.3913C>T p.R1305W missense 0.00000824●●●●●●
492. 23853788 c.5428G>A p.G1810S missense 0.00000824●●●●●●
493. 23872640 c.815C>T p.S272F missense 0.00000824●●●●●●
494. 23866199 c.2141G>A p.R714H missense 0.00000824●●●●●●
495. 23865982 c.2213T>C p.I738T missense 0.00000824●●●●●●
496. 23870143 c.1185C>G p.D395E missense 0.00000824●●●●●●
497. 23855229 c.5071C>T p.R1691C missense 0.00000824●●●●●●
498. 23853694 c.5522G>A p.G1841D missense 0.00000824●●●●●●
499. 23874913 c.268A>G p.M90V missense 0.00000824●●●●●●
500. 23868023 c.1805T>C p.L602P missense 0.00000824●●●●●●
501. 23868003 c.1825C>A p.L609M missense 0.00000824●●●●●●
502. 23867962 c.1866C>A p.F622L missense 0.00000824●●●●●●
503. 23854222 c.5192A>T p.K1731M missense 0.00000824●●●●●●
504. 23851768 c.5665G>A p.E1889K missense 0.00000824●●●●●●
505. 23855612 c.4871T>C p.L1624P missense 0.00000824●●●●●●
506. 23867937 c.1891G>A p.G631R missense 0.00000824●●●●●●
507. 23863459 c.2503T>C p.Y835H missense 0.00000824●●●●●●
508. 23858150 c.4093A>G p.K1365E missense 0.00000824●●●●●●
509. 23856773 c.4615A>C p.K1539Q missense 0.00000824●●●●●●
510. 23862152 c.3220G>T p.D1074Y missense 0.00000824●●●●●●
511. 23866396 c.2033A>G p.N678S missense 0.00000824●●●●●●
512. 23863357 c.2605G>A p.E869K missense 0.00000824●●●●●●
513. 23857431 c.4292T>C p.M1431T missense 0.00000824●●●●●●
514. 23858912 c.3749T>A p.V1250E missense 0.00000824●●●●●●
515. 23857428 c.4295T>A p.V1432E missense 0.00000824●●●●●●
516. 23855715 c.4768C>T p.R1590C missense 0.00000824●●●●●●
517. 23869956 c.1372A>G p.I458V missense 0.00000824●●●●●●
518. 23851645 c.5788G>C p.G1930R missense 0.00000824●●●●●●
519. 23858823 c.3838G>A p.A1280T missense 0.00000824●●●●●●
520. 23853827 c.5389C>G p.H1797D missense 0.00000824●●●●●●
521. 23876344 c.89C>G p.P30R missense 0.00000824●●●●●●
522. 23869524 c.1522G>C p.E508Q missense 0.00000824●●●●●●
523. 23855565 c.4918G>A p.E1640K missense 0.00000824●●●●●●
524. 23853815 c.5401G>A p.E1801K missense 0.00000824●●●●●●
525. 23870021 c.1307T>C p.M436T missense 0.00000824●●●●●●
526. 23869481 c.1565T>C p.I522T missense 0.00000824●●●●●●
527. 23866224 c.2116A>T p.I706F missense 0.00000824●●●●●●
528. 23863075 c.2728C>A p.L910M missense 0.00000824●●●●●●
529. 23858858 c.3803C>G p.A1268G missense 0.00000824●●●●●●
530. 23855261 c.5039A>T p.N1680I missense 0.00000824●●●●●●
531. 23868045 c.1783C>G p.L595V missense 0.00000824●●●●●●
532. 23865973 c.2222G>A p.R741K missense 0.00000824●●●●●●
533. 23862682 c.2974G>A p.A992T missense 0.00000824●●●●●●
534. 23870052 c.1276G>A p.G426R missense 0.00000824●●●●●●
535. 23856988 c.4504C>T p.R1502W missense 0.00000824●●●●●●
536. 23855309 c.4991G>A p.R1664H missense 0.00000824●●●●●●
537. 23857405 c.4318G>C p.A1440P missense 0.00000824●●●●●●
538. 23872573 c.882G>C p.K294N missense 0.00000824●●●●●●
539. 23862248 c.3124C>A p.Q1042K missense 0.00000824●●●●●●
540. 23862232 c.3140G>A p.R1047H missense 0.00000824●●●●●●
541. 23856761 c.4627C>A p.Q1543K missense 0.00000824●●●●●●
542. 23871800 c.1014C>A p.D338E missense 0.00000824●●●●●●
543. 23852489 c.5606T>C p.L1869P missense 0.00000824●●●●●●
544. 23867988 c.1840T>G p.S614A missense 0.00000824●●●●●●
545. 23858093 c.4150C>T p.R1384W missense 0.00000824●●●●●●
546. 23854154 c.5260G>C p.E1754Q missense 0.00000824●●●●●●
547. 23851726 c.5707C>A p.H1903N missense 0.00000824●●●●●●
548. 23874507 c.427C>T p.R143W missense 0.00000824●●●●●●
549. 23870027 c.1301A>C p.E434A missense 0.00000824●●●●●●
550. 23873952 c.610C>T p.R204C missense 0.00000824●●●●●●
551. 23869560 c.1486G>C p.V496L missense 0.00000824●●●●●●
552. 23866277 c.2063A>G p.N688S missense 0.00000824●●●●●●
553. 23863333 c.2629G>A p.E877K missense 0.00000824●●●●●●
554. 23873522 c.718G>A p.D240N missense 0.00000824●●●●●●
555. 23876340 c.93T>G p.F31L missense 0.00000824●●●●●●
556. 23866271 c.2069T>A p.L690Q missense 0.00000824●●●●●●
557. 23863105 c.2698C>A p.L900I missense 0.00000824●●●●●●
558. 23858890 c.3771G>T p.Q1257H missense 0.00000824●●●●●●
559. 23855661 c.4822C>G p.R1608G missense 0.00000824●●●●●●
560. 23876383 c.50G>A p.R17H missense 0.00000824●●●●●●
561. 23857378 c.4345A>G p.R1449G missense 0.00000824●●●●●●
562. 23866004 c.2191G>T p.A731S missense 0.00000824●●●●●●
563. 23866019 c.2176A>T p.I726F missense 0.00000824●●●●●●
564. 23862940 c.2863G>C p.D955H missense 0.00000824●●●●●●
565. 23858803 c.3858T>G p.N1286K missense 0.00000824●●●●●●
566. 23876332 c.101G>A p.R34H missense 0.00000824●●●●●●
567. 23876305 c.128A>G p.K43R missense 0.00000824●●●●●●
568. 23868190 c.1638C>A p.D546E missense 0.00000824●●●●●●
569. 23866200 c.2140C>T p.R714C missense 0.00000824●●●●●●
570. 23856853 c.4535C>T p.S1512L missense 0.00000824●●●●●●
571. 23874957 c.224A>G p.Q75R missense 0.00000824●●●●●●
572. 23853695 c.5521G>A p.G1841S missense 0.00000824●●●●●●
573. 23862928 c.2875C>G p.L959V missense 0.00000824●●●●●●
574. 23874928 c.253G>A p.D85N missense 0.00000824●●●●●●
575. 23868029 c.1799A>T p.D600V missense 0.00000824●●●●●●
576. 23865904 c.2291A>C p.K764T missense 0.00000824●●●●●●
577. 23862176 c.3196G>A p.E1066K missense 0.00000824●●●●●●
578. 23865525 c.2397G>A p.M799I missense 0.00000824●●●●●●
579. 23868011 c.1817T>C p.V606A missense 0.00000824●●●●●●
580. 23862579 c.3077A>C p.K1026T missense 0.00000824●●●●●●
581. 23852450 c.5645G>T p.R1882L missense 0.00000824●●●●●●
582. 23874551 c.383A>G p.Y128C missense 0.00000824●●●●●●
583. 23871685 c.1129G>C p.D377H missense 0.00000824●●●●●●
584. 23851770 c.5663A>C p.E1888A missense 0.00000824●●●●●●
585. 23867952 c.1876G>A p.A626T missense 0.00000824●●●●●●
586. 23863474 c.2488C>T p.P830S missense 0.00000824●●●●●●
587. 23862209 c.3163C>T p.R1055W missense 0.00000824●●●●●●
588. 23856786 c.4602G>C p.Q1534H missense 0.00000824●●●●●●
589. 23851653 c.5780G>T p.R1927L missense 0.00000824●●●●●●
590. 23854225 c.5189A>G p.K1730R missense 0.00000824●●●●●●
591. 23866402 c.2027T>A p.I676N missense 0.00000824●●●●●●
592. 23863373 c.2589G>C p.E863D missense 0.00000824●●●●●●
593. 23855720 c.4763C>A p.A1588D missense 0.00000824●●●●●●
594. 23853919 c.5297T>C p.M1766T missense 0.00000824●●●●●●
595. 23851680 c.5753A>T p.Q1918L missense 0.00000824●●●●●●
596. 23869962 c.1366T>G p.Y456D missense 0.00000824●●●●●●
597. 23866753 c.1961G>A p.R654Q missense 0.00000824●●●●●●
598. 23853881 c.5335G>T p.A1779S missense 0.00000824●●●●●●
599. 23873509 c.731G>A p.R244H missense 0.00000824●●●●●●
600. 23858847 c.3814C>T p.L1272F missense 0.00000824●●●●●●
601. 23855629 c.4854G>T p.K1618N missense 0.00000824●●●●●●
602. 23853841 c.5375T>C p.I1792T missense 0.00000824●●●●●●
603. 23876347 c.86G>C p.R29P missense 0.00000824●●●●●●
604. 23873585 c.655G>T p.D219Y missense 0.00000824●●●●●●
605. 23869531 c.1515G>C p.E505D missense 0.00000824●●●●●●
606. 23853823 c.5393G>A p.R1798Q missense 0.00000824●●●●●●
607. 23869484 c.1562G>A p.C521Y missense 0.00000824●●●●●●
608. 23853742 c.5474A>T p.E1825V missense 0.00000824●●●●●●
609. 23872576 c.879C>G p.N293K missense 0.00000824●●●●●●
610. 23868176 c.1652C>T p.A551V missense 0.00000824●●●●●●
611. 23855286 c.5014A>T p.N1672Y missense 0.00000824●●●●●●
612. 23868065 c.1763A>G p.D588G missense 0.00000824●●●●●●
613. 23862711 c.2945A>G p.E982G missense 0.00000824●●●●●●
614. 23858678 c.3902C>T p.S1301L missense 0.00000824●●●●●●
615. 23857027 c.4465G>A p.A1489T missense 0.00000824●●●●●●
616. 23871768 c.1046G>A p.G349D missense 0.00000824●●●●●●
617. 23867996 c.1832A>T p.Q611L missense 0.00000824●●●●●●
618. 23862551 c.3105T>G p.D1035E missense 0.00000824●●●●●●
619. 23862233 c.3139C>T p.R1047C missense 0.00000824●●●●●●
620. 23856764 c.4624C>A p.L1542M missense 0.00000824●●●●●●
621. 23874889 c.292G>C p.E98Q missense 0.00000824●●●●●●
622. 23855637 c.4846G>A p.V1616M missense 0.00000824●●●●●●
623. 23863392 c.2570A>G p.E857G missense 0.00000824●●●●●●
624. 23861826 c.3287T>C p.I1096T missense 0.00000824●●●●●●
625. 23854222 c.5192A>C p.K1731T missense 0.00000824●●●●●●
626. 23874521 c.413T>C p.V138A missense 0.00000824●●●●●●
627. 23855757 c.4726C>T p.R1576W missense 0.00000824●●●●●●
628. 23854158 c.5256C>G p.N1752K missense 0.00000824●●●●●●
629. 23874510 c.424T>C p.Y142H missense 0.00000824●●●●●●
630. 23870033 c.1295T>C p.V432A missense 0.00000824●●●●●●
631. 23862169 c.3203T>C p.I1068T missense 0.00000824●●●●●●
632. 23862676 c.2980C>A p.L994M missense 0.00000824●●●●●●
633. 23874018 c.544G>A p.A182T missense 0.00000824●●●●●●
634. 23853872 c.5344G>C p.E1782Q missense 0.00000824●●●●●●
635. 23873972 c.590G>A p.S197N missense 0.00000824●●●●●●
636. 23869919 c.1409A>G p.D470G missense 0.00000824●●●●●●
637. 23866287 c.2053G>A p.V685M missense 0.00000824●●●●●●
638. 23863341 c.2621A>T p.E874V missense 0.00000824●●●●●●
639. 23869526 c.1520T>C p.I507T missense 0.00000824●●●●●●
640. 23863299 c.2663A>G p.D888G missense 0.00000824●●●●●●
641. 23858895 c.3766G>A p.D1256N missense 0.00000824●●●●●●
642. 23857417 c.4306C>A p.R1436S missense 0.00000824●●●●●●
643. 23869546 c.1500G>C p.E500D missense 0.00000824●●●●●●
644. 23868212 c.1616G>A p.C539Y missense 0.00000824●●●●●●
645. 23866390 c.2039G>A p.R680Q missense 0.00000824●●●●●●
646. 23866765 c.1949C>T p.S650L missense 0.00000824●●●●●●
647. 23854157 c.5257G>C p.A1753P missense 0.00000824●●●●●●
648. 23858803 c.3858T>A p.N1286K missense 0.00000824●●●●●●
649. 23853752 c.5464C>G p.R1822G missense 0.00000824●●●●●●
650. 23873510 c.730C>T p.R244C missense 0.00000824●●●●●●
651. 23853809 c.5407G>C p.E1803Q missense 0.00000824●●●●●●
652. 23868078 c.1750G>A p.A584T missense 0.00000824●●●●●●
653. 23862588 c.3068C>T p.S1023F missense 0.00000824●●●●●●
654. 23856974 c.4518C>A p.N1506K missense 0.00000824●●●●●●
655. 23856799 c.4589A>T p.K1530M missense 0.00000824●●●●●●
656. 23853701 c.5515G>T p.V1839L missense 0.00000824●●●●●●
657. 23874937 c.244C>T p.P82S missense 0.00000824●●●●●●
658. 23868039 c.1789A>G p.K597E missense 0.00000824●●●●●●
659. 23865916 c.2279T>C p.F760S 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.