MYH6 non-truncating variants in ExAC

MYH6 gene summary
MYH6 variants in DCM

The table below lists the MYH6 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. 23856794 c.4594C>T p.R1532C missense 0.00009886●●●●●●
2. 23867943 c.1885G>A p.D629N missense 0.00009885●●●●●●
3. 23874503 c.431G>T p.G144V missense 0.00009884●●●●●●
4. 23876318 c.115G>A p.V39M missense 0.00009061●●●●●●
5. 23858687 c.3893C>T p.A1298V missense 0.00009061●●●●●●
6. 23862173 c.3199A>G p.S1067G missense 0.00009060●●●●●●
7. 23851741 c.5692T>C p.F1898L missense 0.00009060●●●●●●
8. 23859651 c.3347G>A p.R1116H missense 0.00008985●●●●●●
9. 23855817 c.4666G>A p.E1556K missense 0.00008390●●●●●●
10. 23853923 c.5293G>A p.A1765T missense 0.00008245●●●●●●
11. 23853697 c.5519A>G p.K1840R missense 0.00008245●●●●●●
12. 23866227 c.2113C>T p.R705C missense 0.00008241●●●●●●
13. 23852468 c.5627A>G p.K1876R missense 0.00008241●●●●●●
14. 23853757 c.5459G>A p.R1820Q missense 0.00008238●●●●●●
15. 23863387 c.2575G>T p.G859W missense 0.00008237●●●●●●
16. 23870000 c.1328G>A p.R443H missense 0.00008237●●●●●●
17. 23862194 c.3178G>A p.D1060N missense 0.00008237●●●●●●
18. 23871807 c.1007C>G p.A336G missense 0.00007421●●●●●●
19. 23865539 c.2383C>T p.R795W missense 0.00007421●●●●●●
20. 23874525 c.409G>A p.E137K missense 0.00007414●●●●●●
21. 23858877 c.3784C>T p.R1262C missense 0.00007414●●●●●●
22. 23855711 c.4772A>G p.N1591S missense 0.00007413●●●●●●
23. 23867960 c.1868C>T p.S623F missense 0.00007413●●●●●●
24. 23869560 c.1486G>A p.V496M missense 0.00007413●●●●●●
25. 23853676 c.5540G>A p.R1847Q missense 0.00006599●●●●●●
26. 23866253 c.2087G>A p.R696H missense 0.00006591●●●●●●
27. 23876272 c.161G>A p.R54Q missense 0.00006591●●●●●●
28. 23853758 c.5458C>T p.R1820W missense 0.00006590●●●●●●
29. 23863351 c.2611C>T p.R871C missense 0.00006590●●●●●●
30. 23857395 c.4328C>A p.A1443D missense 0.00006590●●●●●●
31. 23870084 c.1244G>C p.G415A missense 0.00006589●●●●●●
32. 23870067 c.1261G>A p.V421M missense 0.00006589●●●●●●
33. 23859652 c.3346C>A p.R1116S missense 0.00006301●●●●●●
34. 23865569 c.2353C>T p.R785C missense 0.00005780●●●●●●
35. 23871926 c.982G>A p.E328K missense 0.00005778●●●●●●
36. 23852501 c.5594G>A p.R1865Q missense 0.00005774●●●●●●
37. 23855205 c.5095C>T p.R1699W missense 0.00005771●●●●●●
38. 23876356 c.77C>G p.A26G missense 0.00005767●●●●●●
39. 23855736 c.4747G>A p.E1583K missense 0.00005767●●●●●●
40. 23865989 c.2206C>A p.Q736K missense 0.00005766●●●●●●
41. 23857423 c.4300G>A p.V1434I missense 0.00005766●●●●●●
42. 23858853 c.3808C>T p.R1270C missense 0.00005766●●●●●●
43. 23853868 c.5348G>A p.R1783H missense 0.00005766●●●●●●
44. 23855661 c.4822C>T p.R1608C missense 0.00005766●●●●●●
45. 23862975 c.2828G>A p.R943H missense 0.00005765●●●●●●
46. 23865616 c.2306C>T p.A769V missense 0.00004998●●●●●●
47. 23855199 c.5101C>T p.R1701W missense 0.00004948●●●●●●
48. 23855301 c.4999G>A p.D1667N missense 0.00004946●●●●●●
49. 23853731 c.5485G>C p.E1829Q missense 0.00004945●●●●●●
50. 23857507 c.4216G>A p.V1406M missense 0.00004943●●●●●●
51. 23874868 c.313C>A p.L105I missense 0.00004943●●●●●●
52. 23871766 c.1048G>A p.V350I missense 0.00004943●●●●●●
53. 23857492 c.4231G>A p.A1411T missense 0.00004943●●●●●●
54. 23858903 c.3758C>T p.T1253M missense 0.00004943●●●●●●
55. 23869981 c.1347G>T p.E449D missense 0.00004942●●●●●●
56. 23863087 c.2716C>T p.R906C missense 0.00004942●●●●●●
57. 23868200 c.1628A>G p.K543R missense 0.00004942●●●●●●
58. 23859652 c.3346C>T p.R1116C missense 0.00004501●●●●●●
59. 23872967 c.756C>G p.H252Q missense 0.00004259●●●●●●
60. 23855331 c.4969A>G p.I1657V missense 0.00004125●●●●●●
61. 23855760 c.4723G>A p.E1575K missense 0.00004124●●●●●●
62. 23858161 c.4082G>A p.R1361H missense 0.00004123●●●●●●
63. 23853703 c.5513C>T p.S1838L missense 0.00004122●●●●●●
64. 23858159 c.4084G>A p.V1362I missense 0.00004122●●●●●●
65. 23865523 c.2399G>A p.R800H missense 0.00004121●●●●●●
66. 23852453 c.5642A>G p.K1881R missense 0.00004120●●●●●●
67. 23858602 c.3978G>C p.K1326N missense 0.00004119●●●●●●
68. 23863422 c.2540C>T p.T847M missense 0.00004119●●●●●●
69. 23874978 c.203C>T p.T68M missense 0.00004119●●●●●●
70. 23874877 c.304C>A p.L102I missense 0.00004119●●●●●●
71. 23858874 c.3787G>A p.V1263M missense 0.00004119●●●●●●
72. 23862976 c.2827C>T p.R943C missense 0.00004118●●●●●●
73. 23855655 c.4828C>T p.R1610C missense 0.00004118●●●●●●
74. 23862152 c.3220G>A p.D1074N missense 0.00004118●●●●●●
75. 23851743 c.5690A>G p.K1897R missense 0.00004118●●●●●●
76. 23874459 c.475G>A p.D159N missense 0.00004118●●●●●●
77. 23858708 c.3872G>A p.R1291Q missense 0.00004118●●●●●●
78. 23862691 c.2965G>A p.E989K missense 0.00004118●●●●●●
79. 23858666 c.3914G>A p.R1305Q missense 0.00004118●●●●●●
80. 23858207 c.4036C>T p.R1346W missense 0.00003315●●●●●●
81. 23855163 c.5137G>A p.E1713K missense 0.00003304●●●●●●
82. 23863522 c.2440C>A p.L814M missense 0.00003304●●●●●●
83. 23857531 c.4192C>T p.R1398W missense 0.00003302●●●●●●
84. 23865556 c.2366G>A p.R789H missense 0.00003301●●●●●●
85. 23855756 c.4727G>A p.R1576Q missense 0.00003298●●●●●●
86. 23865538 c.2384G>A p.R795Q missense 0.00003298●●●●●●
87. 23871675 c.1139A>C p.E380A missense 0.00003298●●●●●●
88. 23853715 c.5501G>A p.R1834H missense 0.00003297●●●●●●
89. 23853710 c.5506G>A p.A1836T missense 0.00003297●●●●●●
90. 23857516 c.4207G>A p.E1403K missense 0.00003296●●●●●●
91. 23871706 c.1108C>T p.R370W missense 0.00003296●●●●●●
92. 23866242 c.2098G>A p.V700M missense 0.00003296●●●●●●
93. 23865937 c.2258T>C p.I753T missense 0.00003295●●●●●●
94. 23855654 c.4829G>A p.R1610H missense 0.00003295●●●●●●
95. 23863086 c.2717G>A p.R906H missense 0.00003295●●●●●●
96. 23858102 c.4141G>A p.A1381T missense 0.00003295●●●●●●
97. 23851738 c.5695C>T p.R1899C missense 0.00003295●●●●●●
98. 23855685 c.4798C>A p.Q1600K missense 0.00003295●●●●●●
99. 23863081 c.2722G>A p.D908N missense 0.00003295●●●●●●
100. 23858808 c.3853G>A p.E1285K missense 0.00003295●●●●●●
101. 23854136 c.5278G>A p.A1760T missense 0.00003295●●●●●●
102. 23851739 c.5694C>G p.F1898L missense 0.00003295●●●●●●
103. 23868125 c.1703G>A p.R568H missense 0.00003295●●●●●●
104. 23862667 c.2989G>C p.E997Q missense 0.00003295●●●●●●
105. 23865497 c.2425C>T p.R809C missense 0.00003295●●●●●●
106. 23863362 c.2600A>G p.K867R missense 0.00003295●●●●●●
107. 23863347 c.2615G>A p.R872H missense 0.00003295●●●●●●
108. 23857417 c.4306C>T p.R1436C missense 0.00003295●●●●●●
109. 23853880 c.5336C>A p.A1779D missense 0.00003295●●●●●●
110. 23857416 c.4307G>A p.R1436H missense 0.00003295●●●●●●
111. 23859615 c.3383G>A p.R1128H missense 0.00002794●●●●●●
112. 23859484 c.3514G>A p.E1172K missense 0.00002561●●●●●●
113. 23871967 c.941T>C p.V314A missense 0.00002482●●●●●●
114. 23855159 c.5141G>A p.R1714Q missense 0.00002480●●●●●●
115. 23871947 c.961G>A p.V321M missense 0.00002477●●●●●●
116. 23870172 c.1156G>A p.A386T missense 0.00002477●●●●●●
117. 23855770 c.4713G>T p.K1571N missense 0.00002477●●●●●●
118. 23871932 c.976G>A p.D326N missense 0.00002476●●●●●●
119. 23865559 c.2363C>T p.T788M missense 0.00002476●●●●●●
120. 23852502 c.5593C>T p.R1865W missense 0.00002475●●●●●●
121. 23855198 c.5102G>A p.R1701Q missense 0.00002474●●●●●●
122. 23866780 c.1934C>T p.S645F missense 0.00002473●●●●●●
123. 23855310 c.4990C>T p.R1664C missense 0.00002473●●●●●●
124. 23865524 c.2398C>T p.R800C missense 0.00002473●●●●●●
125. 23871799 c.1015G>A p.V339M missense 0.00002473●●●●●●
126. 23873927 c.635C>T p.A212V missense 0.00002473●●●●●●
127. 23855298 c.5002G>A p.D1668N missense 0.00002473●●●●●●
128. 23855267 c.5033G>A p.R1678Q missense 0.00002472●●●●●●
129. 23855268 c.5032C>T p.R1678W missense 0.00002472●●●●●●
130. 23866455 c.1974C>A p.N658K missense 0.00002472●●●●●●
131. 23865521 c.2401A>G p.I801V missense 0.00002472●●●●●●
132. 23852439 c.5656G>A p.E1886K missense 0.00002472●●●●●●
133. 23861814 c.3299A>T p.Q1100L missense 0.00002471●●●●●●
134. 23876333 c.100C>T p.R34C missense 0.00002471●●●●●●
135. 23867966 c.1862T>A p.L621H missense 0.00002471●●●●●●
136. 23851727 c.5706G>T p.Q1902H missense 0.00002471●●●●●●
137. 23861812 c.3301G>A p.V1101M missense 0.00002471●●●●●●
138. 23855714 c.4769G>A p.R1590H missense 0.00002471●●●●●●
139. 23873561 c.679G>A p.A227T missense 0.00002471●●●●●●
140. 23854154 c.5260G>A p.E1754K missense 0.00002471●●●●●●
141. 23862727 c.2929G>C p.V977L missense 0.00002471●●●●●●
142. 23862976 c.2827C>A p.R943S missense 0.00002471●●●●●●
143. 23863387 c.2575G>A p.G859R missense 0.00002471●●●●●●
144. 23858859 c.3802G>T p.A1268S missense 0.00002471●●●●●●
145. 23866022 c.2173C>T p.R725C missense 0.00002471●●●●●●
146. 23851702 c.5731C>T p.R1911W missense 0.00002471●●●●●●
147. 23876273 c.160C>T p.R54W missense 0.00002471●●●●●●
148. 23874530 c.404A>G p.N135S missense 0.00002471●●●●●●
149. 23873528 c.712C>T p.R238W missense 0.00002471●●●●●●
150. 23862583 c.3073T>A p.S1025T missense 0.00002471●●●●●●
151. 23868126 c.1702C>T p.R568C missense 0.00002471●●●●●●
152. 23855583 c.4900G>A p.A1634T missense 0.00002471●●●●●●
153. 23855609 c.4874A>G p.N1625S missense 0.00002471●●●●●●
154. 23866276 c.2064C>A p.N688K missense 0.00002471●●●●●●
155. 23856793 c.4595G>A p.R1532H missense 0.00002471●●●●●●
156. 23855690 c.4793C>T p.S1598L missense 0.00002471●●●●●●
157. 23862568 c.3088G>C p.E1030Q missense 0.00002471●●●●●●
158. 23871726 c.1088T>C p.M363T missense 0.00002471●●●●●●
159. 23869554 c.1492G>A p.E498K missense 0.00002471●●●●●●
160. 23874453 c.481G>A p.A161T missense 0.00002471●●●●●●
161. 23853800 c.5416G>A p.A1806T missense 0.00002471●●●●●●
162. 23872977 c.746T>C p.I249T missense 0.00002200●●●●●●
163. 23859655 c.3343G>A p.A1115T missense 0.00001810●●●●●●
164. 23858227 c.4016G>A p.R1339Q missense 0.00001669●●●●●●
165. 23857131 c.4361T>A p.I1454N missense 0.00001665●●●●●●
166. 23857123 c.4369G>A p.E1457K missense 0.00001663●●●●●●
167. 23857105 c.4387G>A p.E1463K missense 0.00001660●●●●●●
168. 23857101 c.4391A>C p.E1464A missense 0.00001659●●●●●●
169. 23865593 c.2329G>A p.E777K missense 0.00001656●●●●●●
170. 23857541 c.4182G>C p.K1394N missense 0.00001655●●●●●●
171. 23865590 c.2332A>T p.M778L missense 0.00001655●●●●●●
172. 23857072 c.4420A>G p.K1474E missense 0.00001654●●●●●●
173. 23871906 c.1002T>A p.D334E missense 0.00001652●●●●●●
174. 23857062 c.4430G>A p.R1477H missense 0.00001652●●●●●●
175. 23871908 c.1000G>A p.D334N missense 0.00001652●●●●●●
176. 23857063 c.4429C>T p.R1477C missense 0.00001652●●●●●●
177. 23858195 c.4048G>A p.E1350K missense 0.00001652●●●●●●
178. 23855165 c.5135G>T p.S1712I missense 0.00001651●●●●●●
179. 23865557 c.2365C>T p.R789C missense 0.00001651●●●●●●
180. 23853674 c.5542C>T p.R1848C missense 0.00001650●●●●●●
181. 23870162 c.1166T>C p.M389T missense 0.00001649●●●●●●
182. 23855204 c.5096G>A p.R1699Q missense 0.00001649●●●●●●
183. 23858162 c.4081C>T p.R1361C missense 0.00001649●●●●●●
184. 23855315 c.4985C>T p.A1662V missense 0.00001649●●●●●●
185. 23857037 c.4455G>C p.K1485N missense 0.00001649●●●●●●
186. 23866768 c.1946T>C p.V649A missense 0.00001649●●●●●●
187. 23869920 c.1408G>A p.D470N missense 0.00001649●●●●●●
188. 23866783 c.1931C>T p.S644L missense 0.00001649●●●●●●
189. 23876426 c.7G>A p.D3N missense 0.00001649●●●●●●
190. 23869920 c.1408G>T p.D470Y missense 0.00001649●●●●●●
191. 23876243 c.190G>A p.E64K missense 0.00001649●●●●●●
192. 23871807 c.1007C>A p.A336D missense 0.00001649●●●●●●
193. 23866185 c.2155G>A p.D719N missense 0.00001648●●●●●●
194. 23856794 c.4594C>G p.R1532G missense 0.00001648●●●●●●
195. 23874852 c.329C>T p.A110V missense 0.00001648●●●●●●
196. 23858107 c.4136C>A p.T1379K missense 0.00001648●●●●●●
197. 23855568 c.4915G>A p.A1639T missense 0.00001648●●●●●●
198. 23876348 c.85C>T p.R29W missense 0.00001648●●●●●●
199. 23852451 c.5644C>T p.R1882C missense 0.00001648●●●●●●
200. 23876258 c.175G>C p.V59L missense 0.00001648●●●●●●
201. 23857405 c.4318G>T p.A1440S missense 0.00001648●●●●●●
202. 23874539 c.395_396insTAC p.Pro132_Val133insThr inframe 0.00001648●●●●●●
203. 23869929 c.1399G>A p.E467K missense 0.00001648●●●●●●
204. 23866221 c.2119T>C p.C707R missense 0.00001648●●●●●●
205. 23856981 c.4511A>G p.N1504S missense 0.00001648●●●●●●
206. 23852435 c.5660C>T p.A1887V missense 0.00001648●●●●●●
207. 23866197 c.2143A>G p.I715V missense 0.00001648●●●●●●
208. 23858928 c.3733G>A p.A1245T missense 0.00001648●●●●●●
209. 23869955 c.1373T>C p.I458T missense 0.00001648●●●●●●
210. 23857398 c.4325C>T p.A1442V missense 0.00001648●●●●●●
211. 23855274 c.5026G>A p.V1676M missense 0.00001648●●●●●●
212. 23852442 c.5653G>A p.E1885K missense 0.00001648●●●●●●
213. 23871742 c.1072A>G p.M358V missense 0.00001648●●●●●●
214. 23853898 c.5318A>T p.K1773M missense 0.00001648●●●●●●
215. 23876365 c.68G>A p.R23H missense 0.00001648●●●●●●
216. 23866254 c.2086C>T p.R696C missense 0.00001648●●●●●●
217. 23857377 c.4346G>A p.R1449K missense 0.00001648●●●●●●
218. 23858092 c.4151G>A p.R1384Q missense 0.00001648●●●●●●
219. 23857018 c.4474_4476delGAG p.Glu1492del inframe 0.00001648●●●●●●
220. 23853741 c.5475G>C p.E1825D missense 0.00001648●●●●●●
221. 23858103 c.4140C>A p.D1380E missense 0.00001648●●●●●●
222. 23870151 c.1177T>G p.S393A missense 0.00001648●●●●●●
223. 23858906 c.3755G>A p.R1252Q missense 0.00001648●●●●●●
224. 23855264 c.5036G>A p.R1679H missense 0.00001648●●●●●●
225. 23855277 c.5023A>G p.I1675V missense 0.00001648●●●●●●
226. 23873549 c.691T>C p.F231L missense 0.00001647●●●●●●
227. 23863408 c.2554G>A p.A852T missense 0.00001647●●●●●●
228. 23873506 c.734T>C p.F245S missense 0.00001647●●●●●●
229. 23876314 c.119C>G p.P40R missense 0.00001647●●●●●●
230. 23874969 c.212T>C p.V71A missense 0.00001647●●●●●●
231. 23863032 c.2771T>C p.M924T missense 0.00001647●●●●●●
232. 23857437 c.4286A>T p.D1429V missense 0.00001647●●●●●●
233. 23863371 c.2591C>T p.T864M missense 0.00001647●●●●●●
234. 23866021 c.2174G>T p.R725L missense 0.00001647●●●●●●
235. 23874906 c.275T>C p.M92T missense 0.00001647●●●●●●
236. 23855629 c.4854G>C p.K1618N missense 0.00001647●●●●●●
237. 23873527 c.713G>A p.R238Q missense 0.00001647●●●●●●
238. 23870079 c.1249A>G p.S417G missense 0.00001647●●●●●●
239. 23865922 c.2273A>G p.Y758C missense 0.00001647●●●●●●
240. 23858825 c.3836G>A p.R1279Q missense 0.00001647●●●●●●
241. 23862961 c.2842G>A p.E948K missense 0.00001647●●●●●●
242. 23874948 c.233A>G p.Q78R missense 0.00001647●●●●●●
243. 23867974 c.1854G>A p.M618I missense 0.00001647●●●●●●
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490. 23870122 c.1206C>A p.H402Q missense 0.00000824●●●●●●
491. 23863434 c.2528A>G p.K843R missense 0.00000824●●●●●●
492. 23858103 c.4140C>G p.D1380E missense 0.00000824●●●●●●
493. 23861826 c.3287T>A p.I1096N missense 0.00000824●●●●●●
494. 23858086 c.4157A>T p.E1386V missense 0.00000824●●●●●●
495. 23854211 c.5203G>A p.D1735N missense 0.00000824●●●●●●
496. 23862957 c.2846G>A p.C949Y missense 0.00000824●●●●●●
497. 23858895 c.3766G>A p.D1256N missense 0.00000824●●●●●●
498. 23857410 c.4313A>T p.N1438I missense 0.00000824●●●●●●
499. 23855660 c.4823G>A p.R1608H missense 0.00000824●●●●●●
500. 23853875 c.5341C>A p.L1781M missense 0.00000824●●●●●●
501. 23869546 c.1500G>C p.E500D missense 0.00000824●●●●●●
502. 23870143 c.1185C>G p.D395E missense 0.00000824●●●●●●
503. 23866379 c.2050G>C p.G684R missense 0.00000824●●●●●●
504. 23858803 c.3858T>A p.N1286K missense 0.00000824●●●●●●
505. 23855534 c.4949G>A p.S1650N missense 0.00000824●●●●●●
506. 23853812 c.5404G>A p.A1802T missense 0.00000824●●●●●●
507. 23876344 c.89C>G p.P30R missense 0.00000824●●●●●●
508. 23869499 c.1547T>C p.M516T missense 0.00000824●●●●●●
509. 23853788 c.5428G>A p.G1810S missense 0.00000824●●●●●●
510. 23865982 c.2213T>C p.I738T missense 0.00000824●●●●●●
511. 23869468 c.1578G>C p.E526D missense 0.00000824●●●●●●
512. 23866223 c.2117T>A p.I706N missense 0.00000824●●●●●●
513. 23862997 c.2806G>A p.A936T missense 0.00000824●●●●●●
514. 23858847 c.3814C>T p.L1272F missense 0.00000824●●●●●●
515. 23855229 c.5071C>T p.R1691C missense 0.00000824●●●●●●
516. 23853694 c.5522G>A p.G1841D missense 0.00000824●●●●●●
517. 23868044 c.1784T>A p.L595Q missense 0.00000824●●●●●●
518. 23865927 c.2268C>A p.N756K missense 0.00000824●●●●●●
519. 23862672 c.2984C>G p.T995S missense 0.00000824●●●●●●
520. 23856832 c.4556G>A p.G1519E missense 0.00000824●●●●●●
521. 23872573 c.882G>C p.K294N missense 0.00000824●●●●●●
522. 23862235 c.3137T>C p.V1046A missense 0.00000824●●●●●●
523. 23876383 c.50G>A p.R17H missense 0.00000824●●●●●●
524. 23865521 c.2401A>T p.I801F missense 0.00000824●●●●●●
525. 23862221 c.3151G>A p.E1051K missense 0.00000824●●●●●●
526. 23858150 c.4093A>G p.K1365E missense 0.00000824●●●●●●
527. 23871800 c.1014C>A p.D338E missense 0.00000824●●●●●●
528. 23867987 c.1841C>T p.S614F missense 0.00000824●●●●●●
529. 23857468 c.4255A>C p.T1419P missense 0.00000824●●●●●●
530. 23855740 c.4743G>T p.K1581N missense 0.00000824●●●●●●
531. 23855715 c.4768C>T p.R1590C missense 0.00000824●●●●●●
532. 23851665 c.5768G>A p.R1923Q missense 0.00000824●●●●●●
533. 23874507 c.427C>T p.R143W missense 0.00000824●●●●●●
534. 23870007 c.1321G>A p.V441M missense 0.00000824●●●●●●
535. 23866762 c.1952C>T p.A651V missense 0.00000824●●●●●●
536. 23863395 c.2567A>G p.E856G missense 0.00000824●●●●●●
537. 23873509 c.731G>A p.R244H missense 0.00000824●●●●●●
538. 23868078 c.1750G>A p.A584T missense 0.00000824●●●●●●
539. 23863386 c.2576G>C p.G859A missense 0.00000824●●●●●●
540. 23853827 c.5389C>G p.H1797D missense 0.00000824●●●●●●
541. 23866765 c.1949C>T p.S650L missense 0.00000824●●●●●●
542. 23873952 c.610C>T p.R204C missense 0.00000824●●●●●●
543. 23863304 c.2658G>C p.K886N missense 0.00000824●●●●●●
544. 23863409 c.2553G>A p.M851I missense 0.00000824●●●●●●
545. 23862137 c.3235G>C p.E1079Q missense 0.00000824●●●●●●
546. 23858859 c.3802G>A p.A1268T missense 0.00000824●●●●●●
547. 23855647 c.4836G>C p.E1612D missense 0.00000824●●●●●●
548. 23862928 c.2875C>G p.L959V missense 0.00000824●●●●●●
549. 23866178 c.2162G>A p.R721Q missense 0.00000824●●●●●●
550. 23862909 c.2894A>C p.K965T missense 0.00000824●●●●●●
551. 23855261 c.5039A>T p.N1680I missense 0.00000824●●●●●●
552. 23876332 c.101G>A p.R34H missense 0.00000824●●●●●●
553. 23856988 c.4504C>T p.R1502W missense 0.00000824●●●●●●
554. 23855309 c.4991G>A p.R1664H missense 0.00000824●●●●●●
555. 23876305 c.128A>G p.K43R missense 0.00000824●●●●●●
556. 23866199 c.2141G>A p.R714H missense 0.00000824●●●●●●
557. 23869526 c.1520T>C p.I507T missense 0.00000824●●●●●●
558. 23874957 c.224A>G p.Q75R missense 0.00000824●●●●●●
559. 23856761 c.4627C>A p.Q1543K missense 0.00000824●●●●●●
560. 23874928 c.253G>A p.D85N missense 0.00000824●●●●●●
561. 23868023 c.1805T>C p.L602P missense 0.00000824●●●●●●
562. 23852489 c.5606T>C p.L1869P missense 0.00000824●●●●●●
563. 23868003 c.1825C>A p.L609M missense 0.00000824●●●●●●
564. 23854222 c.5192A>T p.K1731M missense 0.00000824●●●●●●
565. 23851768 c.5665G>A p.E1889K missense 0.00000824●●●●●●
566. 23874551 c.383A>G p.Y128C missense 0.00000824●●●●●●
567. 23871685 c.1129G>C p.D377H missense 0.00000824●●●●●●
568. 23867962 c.1866C>A p.F622L missense 0.00000824●●●●●●
569. 23851726 c.5707C>A p.H1903N missense 0.00000824●●●●●●
570. 23867937 c.1891G>A p.G631R missense 0.00000824●●●●●●
571. 23863459 c.2503T>C p.Y835H missense 0.00000824●●●●●●
572. 23858093 c.4150C>T p.R1384W missense 0.00000824●●●●●●
573. 23873937 c.625A>G p.N209D missense 0.00000824●●●●●●
574. 23866396 c.2033A>G p.N678S missense 0.00000824●●●●●●
575. 23863357 c.2605G>A p.E869K missense 0.00000824●●●●●●
576. 23857428 c.4295T>A p.V1432E missense 0.00000824●●●●●●
577. 23855661 c.4822C>G p.R1608G missense 0.00000824●●●●●●
578. 23851645 c.5788G>C p.G1930R missense 0.00000824●●●●●●
579. 23869956 c.1372A>G p.I458V missense 0.00000824●●●●●●
580. 23858804 c.3857A>T p.N1286I missense 0.00000824●●●●●●
581. 23855565 c.4918G>A p.E1640K missense 0.00000824●●●●●●
582. 23853815 c.5401G>A p.E1801K missense 0.00000824●●●●●●
583. 23876347 c.86G>C p.R29P missense 0.00000824●●●●●●
584. 23873585 c.655G>T p.D219Y missense 0.00000824●●●●●●
585. 23869524 c.1522G>C p.E508Q missense 0.00000824●●●●●●
586. 23866004 c.2191G>T p.A731S missense 0.00000824●●●●●●
587. 23865525 c.2397G>A p.M799I missense 0.00000824●●●●●●
588. 23869481 c.1565T>C p.I522T missense 0.00000824●●●●●●
589. 23866224 c.2116A>T p.I706F missense 0.00000824●●●●●●
590. 23863075 c.2728C>A p.L910M missense 0.00000824●●●●●●
591. 23858852 c.3809G>A p.R1270H missense 0.00000824●●●●●●
592. 23872576 c.879C>G p.N293K missense 0.00000824●●●●●●
593. 23868101 c.1727C>T p.A576V missense 0.00000824●●●●●●
594. 23853695 c.5521G>A p.G1841S missense 0.00000824●●●●●●
595. 23856773 c.4615A>C p.K1539Q missense 0.00000824●●●●●●
596. 23868045 c.1783C>G p.L595V missense 0.00000824●●●●●●
597. 23865973 c.2222G>A p.R741K missense 0.00000824●●●●●●
598. 23862682 c.2974G>A p.A992T missense 0.00000824●●●●●●
599. 23853752 c.5464C>G p.R1822G missense 0.00000824●●●●●●
600. 23856853 c.4535C>T p.S1512L missense 0.00000824●●●●●●
601. 23855637 c.4846G>A p.V1616M missense 0.00000824●●●●●●
602. 23871768 c.1046G>A p.G349D missense 0.00000824●●●●●●
603. 23867988 c.1840T>G p.S614A missense 0.00000824●●●●●●
604. 23862248 c.3124C>A p.Q1042K missense 0.00000824●●●●●●
605. 23854225 c.5189A>G p.K1730R missense 0.00000824●●●●●●
606. 23862232 c.3140G>A p.R1047H missense 0.00000824●●●●●●
607. 23874889 c.292G>C p.E98Q missense 0.00000824●●●●●●
608. 23852450 c.5645G>T p.R1882L 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.