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. 23858687 c.3893C>T p.A1298V missense 0.00009061●●●●●●
5. 23876318 c.115G>A p.V39M 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. 23852468 c.5627A>G p.K1876R missense 0.00008241●●●●●●
13. 23866227 c.2113C>T p.R705C missense 0.00008241●●●●●●
14. 23853757 c.5459G>A p.R1820Q missense 0.00008238●●●●●●
15. 23870000 c.1328G>A p.R443H missense 0.00008237●●●●●●
16. 23862194 c.3178G>A p.D1060N missense 0.00008237●●●●●●
17. 23863387 c.2575G>T p.G859W missense 0.00008237●●●●●●
18. 23871807 c.1007C>G p.A336G missense 0.00007421●●●●●●
19. 23865539 c.2383C>T p.R795W missense 0.00007421●●●●●●
20. 23858877 c.3784C>T p.R1262C missense 0.00007414●●●●●●
21. 23874525 c.409G>A p.E137K missense 0.00007414●●●●●●
22. 23867960 c.1868C>T p.S623F missense 0.00007413●●●●●●
23. 23869560 c.1486G>A p.V496M missense 0.00007413●●●●●●
24. 23855711 c.4772A>G p.N1591S 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. 23855736 c.4747G>A p.E1583K missense 0.00005767●●●●●●
39. 23876356 c.77C>G p.A26G missense 0.00005767●●●●●●
40. 23857423 c.4300G>A p.V1434I missense 0.00005766●●●●●●
41. 23858853 c.3808C>T p.R1270C missense 0.00005766●●●●●●
42. 23853868 c.5348G>A p.R1783H missense 0.00005766●●●●●●
43. 23855661 c.4822C>T p.R1608C missense 0.00005766●●●●●●
44. 23865989 c.2206C>A p.Q736K 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. 23871766 c.1048G>A p.V350I missense 0.00004943●●●●●●
51. 23857492 c.4231G>A p.A1411T missense 0.00004943●●●●●●
52. 23858903 c.3758C>T p.T1253M missense 0.00004943●●●●●●
53. 23857507 c.4216G>A p.V1406M missense 0.00004943●●●●●●
54. 23874868 c.313C>A p.L105I missense 0.00004943●●●●●●
55. 23868200 c.1628A>G p.K543R missense 0.00004942●●●●●●
56. 23869981 c.1347G>T p.E449D missense 0.00004942●●●●●●
57. 23863087 c.2716C>T p.R906C 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. 23874978 c.203C>T p.T68M missense 0.00004119●●●●●●
68. 23874877 c.304C>A p.L102I missense 0.00004119●●●●●●
69. 23858874 c.3787G>A p.V1263M missense 0.00004119●●●●●●
70. 23858602 c.3978G>C p.K1326N missense 0.00004119●●●●●●
71. 23863422 c.2540C>T p.T847M missense 0.00004119●●●●●●
72. 23851743 c.5690A>G p.K1897R missense 0.00004118●●●●●●
73. 23874459 c.475G>A p.D159N missense 0.00004118●●●●●●
74. 23858708 c.3872G>A p.R1291Q missense 0.00004118●●●●●●
75. 23862691 c.2965G>A p.E989K missense 0.00004118●●●●●●
76. 23858666 c.3914G>A p.R1305Q missense 0.00004118●●●●●●
77. 23862976 c.2827C>T p.R943C missense 0.00004118●●●●●●
78. 23855655 c.4828C>T p.R1610C missense 0.00004118●●●●●●
79. 23862152 c.3220G>A p.D1074N missense 0.00004118●●●●●●
80. 23858207 c.4036C>T p.R1346W missense 0.00003315●●●●●●
81. 23863522 c.2440C>A p.L814M missense 0.00003304●●●●●●
82. 23855163 c.5137G>A p.E1713K missense 0.00003304●●●●●●
83. 23857531 c.4192C>T p.R1398W missense 0.00003302●●●●●●
84. 23865556 c.2366G>A p.R789H missense 0.00003301●●●●●●
85. 23871675 c.1139A>C p.E380A missense 0.00003298●●●●●●
86. 23855756 c.4727G>A p.R1576Q missense 0.00003298●●●●●●
87. 23865538 c.2384G>A p.R795Q missense 0.00003298●●●●●●
88. 23853715 c.5501G>A p.R1834H missense 0.00003297●●●●●●
89. 23853710 c.5506G>A p.A1836T missense 0.00003297●●●●●●
90. 23866242 c.2098G>A p.V700M missense 0.00003296●●●●●●
91. 23857516 c.4207G>A p.E1403K missense 0.00003296●●●●●●
92. 23871706 c.1108C>T p.R370W missense 0.00003296●●●●●●
93. 23863362 c.2600A>G p.K867R missense 0.00003295●●●●●●
94. 23863347 c.2615G>A p.R872H missense 0.00003295●●●●●●
95. 23853880 c.5336C>A p.A1779D missense 0.00003295●●●●●●
96. 23857417 c.4306C>T p.R1436C missense 0.00003295●●●●●●
97. 23857416 c.4307G>A p.R1436H missense 0.00003295●●●●●●
98. 23855654 c.4829G>A p.R1610H missense 0.00003295●●●●●●
99. 23865937 c.2258T>C p.I753T missense 0.00003295●●●●●●
100. 23863086 c.2717G>A p.R906H missense 0.00003295●●●●●●
101. 23858102 c.4141G>A p.A1381T missense 0.00003295●●●●●●
102. 23851738 c.5695C>T p.R1899C missense 0.00003295●●●●●●
103. 23855685 c.4798C>A p.Q1600K missense 0.00003295●●●●●●
104. 23863081 c.2722G>A p.D908N missense 0.00003295●●●●●●
105. 23854136 c.5278G>A p.A1760T missense 0.00003295●●●●●●
106. 23858808 c.3853G>A p.E1285K missense 0.00003295●●●●●●
107. 23851739 c.5694C>G p.F1898L missense 0.00003295●●●●●●
108. 23868125 c.1703G>A p.R568H missense 0.00003295●●●●●●
109. 23862667 c.2989G>C p.E997Q missense 0.00003295●●●●●●
110. 23865497 c.2425C>T p.R809C 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. 23855770 c.4713G>T p.K1571N missense 0.00002477●●●●●●
116. 23870172 c.1156G>A p.A386T missense 0.00002477●●●●●●
117. 23871947 c.961G>A p.V321M 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. 23873927 c.635C>T p.A212V missense 0.00002473●●●●●●
123. 23855298 c.5002G>A p.D1668N missense 0.00002473●●●●●●
124. 23866780 c.1934C>T p.S645F missense 0.00002473●●●●●●
125. 23855310 c.4990C>T p.R1664C missense 0.00002473●●●●●●
126. 23865524 c.2398C>T p.R800C missense 0.00002473●●●●●●
127. 23871799 c.1015G>A p.V339M missense 0.00002473●●●●●●
128. 23866455 c.1974C>A p.N658K missense 0.00002472●●●●●●
129. 23865521 c.2401A>G p.I801V missense 0.00002472●●●●●●
130. 23852439 c.5656G>A p.E1886K missense 0.00002472●●●●●●
131. 23855267 c.5033G>A p.R1678Q missense 0.00002472●●●●●●
132. 23855268 c.5032C>T p.R1678W missense 0.00002472●●●●●●
133. 23863387 c.2575G>A p.G859R missense 0.00002471●●●●●●
134. 23858859 c.3802G>T p.A1268S missense 0.00002471●●●●●●
135. 23866022 c.2173C>T p.R725C missense 0.00002471●●●●●●
136. 23874530 c.404A>G p.N135S missense 0.00002471●●●●●●
137. 23851702 c.5731C>T p.R1911W missense 0.00002471●●●●●●
138. 23876273 c.160C>T p.R54W missense 0.00002471●●●●●●
139. 23873528 c.712C>T p.R238W missense 0.00002471●●●●●●
140. 23862583 c.3073T>A p.S1025T missense 0.00002471●●●●●●
141. 23855583 c.4900G>A p.A1634T missense 0.00002471●●●●●●
142. 23868126 c.1702C>T p.R568C missense 0.00002471●●●●●●
143. 23855609 c.4874A>G p.N1625S missense 0.00002471●●●●●●
144. 23866276 c.2064C>A p.N688K missense 0.00002471●●●●●●
145. 23855690 c.4793C>T p.S1598L missense 0.00002471●●●●●●
146. 23862568 c.3088G>C p.E1030Q missense 0.00002471●●●●●●
147. 23856793 c.4595G>A p.R1532H missense 0.00002471●●●●●●
148. 23871726 c.1088T>C p.M363T missense 0.00002471●●●●●●
149. 23874453 c.481G>A p.A161T missense 0.00002471●●●●●●
150. 23869554 c.1492G>A p.E498K missense 0.00002471●●●●●●
151. 23853800 c.5416G>A p.A1806T missense 0.00002471●●●●●●
152. 23861814 c.3299A>T p.Q1100L missense 0.00002471●●●●●●
153. 23876333 c.100C>T p.R34C missense 0.00002471●●●●●●
154. 23867966 c.1862T>A p.L621H missense 0.00002471●●●●●●
155. 23851727 c.5706G>T p.Q1902H missense 0.00002471●●●●●●
156. 23861812 c.3301G>A p.V1101M missense 0.00002471●●●●●●
157. 23855714 c.4769G>A p.R1590H missense 0.00002471●●●●●●
158. 23873561 c.679G>A p.A227T missense 0.00002471●●●●●●
159. 23854154 c.5260G>A p.E1754K missense 0.00002471●●●●●●
160. 23862727 c.2929G>C p.V977L missense 0.00002471●●●●●●
161. 23862976 c.2827C>A p.R943S 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. 23871908 c.1000G>A p.D334N missense 0.00001652●●●●●●
174. 23857063 c.4429C>T p.R1477C missense 0.00001652●●●●●●
175. 23858195 c.4048G>A p.E1350K missense 0.00001652●●●●●●
176. 23871906 c.1002T>A p.D334E missense 0.00001652●●●●●●
177. 23857062 c.4430G>A p.R1477H missense 0.00001652●●●●●●
178. 23865557 c.2365C>T p.R789C missense 0.00001651●●●●●●
179. 23855165 c.5135G>T p.S1712I missense 0.00001651●●●●●●
180. 23853674 c.5542C>T p.R1848C missense 0.00001650●●●●●●
181. 23866768 c.1946T>C p.V649A missense 0.00001649●●●●●●
182. 23869920 c.1408G>A p.D470N missense 0.00001649●●●●●●
183. 23866783 c.1931C>T p.S644L missense 0.00001649●●●●●●
184. 23876426 c.7G>A p.D3N missense 0.00001649●●●●●●
185. 23869920 c.1408G>T p.D470Y missense 0.00001649●●●●●●
186. 23876243 c.190G>A p.E64K missense 0.00001649●●●●●●
187. 23871807 c.1007C>A p.A336D missense 0.00001649●●●●●●
188. 23870162 c.1166T>C p.M389T missense 0.00001649●●●●●●
189. 23855204 c.5096G>A p.R1699Q missense 0.00001649●●●●●●
190. 23858162 c.4081C>T p.R1361C missense 0.00001649●●●●●●
191. 23855315 c.4985C>T p.A1662V missense 0.00001649●●●●●●
192. 23857037 c.4455G>C p.K1485N missense 0.00001649●●●●●●
193. 23866197 c.2143A>G p.I715V missense 0.00001648●●●●●●
194. 23869955 c.1373T>C p.I458T missense 0.00001648●●●●●●
195. 23858928 c.3733G>A p.A1245T missense 0.00001648●●●●●●
196. 23857398 c.4325C>T p.A1442V missense 0.00001648●●●●●●
197. 23855274 c.5026G>A p.V1676M missense 0.00001648●●●●●●
198. 23852442 c.5653G>A p.E1885K missense 0.00001648●●●●●●
199. 23871742 c.1072A>G p.M358V missense 0.00001648●●●●●●
200. 23853898 c.5318A>T p.K1773M missense 0.00001648●●●●●●
201. 23857377 c.4346G>A p.R1449K missense 0.00001648●●●●●●
202. 23858092 c.4151G>A p.R1384Q missense 0.00001648●●●●●●
203. 23857018 c.4474_4476delGAG p.Glu1492del inframe 0.00001648●●●●●●
204. 23876365 c.68G>A p.R23H missense 0.00001648●●●●●●
205. 23866254 c.2086C>T p.R696C missense 0.00001648●●●●●●
206. 23853741 c.5475G>C p.E1825D missense 0.00001648●●●●●●
207. 23858103 c.4140C>A p.D1380E missense 0.00001648●●●●●●
208. 23870151 c.1177T>G p.S393A missense 0.00001648●●●●●●
209. 23858906 c.3755G>A p.R1252Q missense 0.00001648●●●●●●
210. 23855277 c.5023A>G p.I1675V missense 0.00001648●●●●●●
211. 23855264 c.5036G>A p.R1679H missense 0.00001648●●●●●●
212. 23866185 c.2155G>A p.D719N missense 0.00001648●●●●●●
213. 23856794 c.4594C>G p.R1532G missense 0.00001648●●●●●●
214. 23874852 c.329C>T p.A110V missense 0.00001648●●●●●●
215. 23858107 c.4136C>A p.T1379K missense 0.00001648●●●●●●
216. 23876348 c.85C>T p.R29W missense 0.00001648●●●●●●
217. 23855568 c.4915G>A p.A1639T missense 0.00001648●●●●●●
218. 23852451 c.5644C>T p.R1882C missense 0.00001648●●●●●●
219. 23876258 c.175G>C p.V59L missense 0.00001648●●●●●●
220. 23857405 c.4318G>T p.A1440S missense 0.00001648●●●●●●
221. 23874539 c.395_396insTAC p.Pro132_Val133insThr inframe 0.00001648●●●●●●
222. 23869929 c.1399G>A p.E467K missense 0.00001648●●●●●●
223. 23866221 c.2119T>C p.C707R missense 0.00001648●●●●●●
224. 23856981 c.4511A>G p.N1504S missense 0.00001648●●●●●●
225. 23852435 c.5660C>T p.A1887V missense 0.00001648●●●●●●
226. 23857456 c.4267C>A p.L1423I missense 0.00001647●●●●●●
227. 23874513 c.421G>A p.A141T missense 0.00001647●●●●●●
228. 23851653 c.5780G>A p.R1927H missense 0.00001647●●●●●●
229. 23874507 c.427C>G p.R143G missense 0.00001647●●●●●●
230. 23870003 c.1325C>T p.T442M missense 0.00001647●●●●●●
231. 23861824 c.3289G>A p.E1097K missense 0.00001647●●●●●●
232. 23863086 c.2717G>T p.R906L missense 0.00001647●●●●●●
233. 23862727 c.2929G>A p.V977M missense 0.00001647●●●●●●
234. 23858657 c.3923T>G p.L1308R missense 0.00001647●●●●●●
235. 23851264 c.5805G>T p.M1935I missense 0.00001647●●●●●●
236. 23862181 c.3191C>T p.T1064I missense 0.00001647●●●●●●
237. 23853866 c.5350A>G p.M1784V missense 0.00001647●●●●●●
238. 23874449 c.485A>G p.Y162C missense 0.00001647●●●●●●
239. 23873564 c.676C>T p.P226S missense 0.00001647●●●●●●
240. 23862631 c.3025C>G p.L1009V missense 0.00001647●●●●●●
241. 23874515 c.419C>A p.A140D missense 0.00001647●●●●●●
242. 23873994 c.568C>T p.R190C missense 0.00001647●●●●●●
243. 23863087 c.2716C>A p.R906S missense 0.00001647●●●●●●
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490. 23874494 c.440G>A p.R147K missense 0.00000824●●●●●●
491. 23876312 c.121G>A p.D41N missense 0.00000824●●●●●●
492. 23874510 c.424T>C p.Y142H missense 0.00000824●●●●●●
493. 23870027 c.1301A>C p.E434A missense 0.00000824●●●●●●
494. 23862152 c.3220G>T p.D1074Y missense 0.00000824●●●●●●
495. 23854154 c.5260G>C p.E1754Q missense 0.00000824●●●●●●
496. 23874521 c.413T>C p.V138A missense 0.00000824●●●●●●
497. 23855720 c.4763C>A p.A1588D missense 0.00000824●●●●●●
498. 23853919 c.5297T>C p.M1766T missense 0.00000824●●●●●●
499. 23851680 c.5753A>T p.Q1918L missense 0.00000824●●●●●●
500. 23863105 c.2698C>A p.L900I missense 0.00000824●●●●●●
501. 23858874 c.3787G>T p.V1263L missense 0.00000824●●●●●●
502. 23857378 c.4345A>G p.R1449G missense 0.00000824●●●●●●
503. 23858097 c.4146_4148delTCA p.Ile1382_Gln1383delinsMet inframe 0.00000824●●●●●●
504. 23874018 c.544G>A p.A182T missense 0.00000824●●●●●●
505. 23855629 c.4854G>T p.K1618N missense 0.00000824●●●●●●
506. 23853841 c.5375T>C p.I1792T missense 0.00000824●●●●●●
507. 23868087 c.1741A>G p.I581V missense 0.00000824●●●●●●
508. 23873972 c.590G>A p.S197N missense 0.00000824●●●●●●
509. 23869560 c.1486G>C p.V496L missense 0.00000824●●●●●●
510. 23866277 c.2063A>G p.N688S missense 0.00000824●●●●●●
511. 23863333 c.2629G>A p.E877K missense 0.00000824●●●●●●
512. 23873510 c.730C>T p.R244C missense 0.00000824●●●●●●
513. 23857027 c.4465G>A p.A1489T missense 0.00000824●●●●●●
514. 23853742 c.5474A>T p.E1825V missense 0.00000824●●●●●●
515. 23868190 c.1638C>A p.D546E missense 0.00000824●●●●●●
516. 23866200 c.2140C>T p.R714C missense 0.00000824●●●●●●
517. 23862940 c.2863G>C p.D955H missense 0.00000824●●●●●●
518. 23858720 c.3860G>A p.G1287E missense 0.00000824●●●●●●
519. 23874937 c.244C>T p.P82S missense 0.00000824●●●●●●
520. 23868029 c.1799A>T p.D600V missense 0.00000824●●●●●●
521. 23865904 c.2291A>C p.K764T missense 0.00000824●●●●●●
522. 23855715 c.4768C>A p.R1590S missense 0.00000824●●●●●●
523. 23856803 c.4585G>A p.E1529K missense 0.00000824●●●●●●
524. 23862579 c.3077A>C p.K1026T missense 0.00000824●●●●●●
525. 23857405 c.4318G>C p.A1440P missense 0.00000824●●●●●●
526. 23856764 c.4624C>A p.L1542M missense 0.00000824●●●●●●
527. 23857429 c.4294G>A p.V1432M missense 0.00000824●●●●●●
528. 23874919 c.262G>C p.E88Q missense 0.00000824●●●●●●
529. 23867952 c.1876G>A p.A626T missense 0.00000824●●●●●●
530. 23863474 c.2488C>T p.P830S missense 0.00000824●●●●●●
531. 23862209 c.3163C>T p.R1055W missense 0.00000824●●●●●●
532. 23874853 c.328G>A p.A110T missense 0.00000824●●●●●●
533. 23854222 c.5192A>C p.K1731T missense 0.00000824●●●●●●
534. 23851770 c.5663A>C p.E1888A missense 0.00000824●●●●●●
535. 23874576 c.358C>G p.L120V missense 0.00000824●●●●●●
536. 23871689 c.1125G>T p.E375D missense 0.00000824●●●●●●
537. 23857417 c.4306C>A p.R1436S missense 0.00000824●●●●●●
538. 23853881 c.5335G>T p.A1779S missense 0.00000824●●●●●●
539. 23851653 c.5780G>T p.R1927L missense 0.00000824●●●●●●
540. 23874488 c.446A>T p.E149V missense 0.00000824●●●●●●
541. 23869962 c.1366T>G p.Y456D missense 0.00000824●●●●●●
542. 23866753 c.1961G>A p.R654Q missense 0.00000824●●●●●●
543. 23871753 c.1061C>T p.T354M missense 0.00000824●●●●●●
544. 23866402 c.2027T>A p.I676N missense 0.00000824●●●●●●
545. 23863373 c.2589G>C p.E863D missense 0.00000824●●●●●●
546. 23869531 c.1515G>C p.E505D missense 0.00000824●●●●●●
547. 23866271 c.2069T>A p.L690Q missense 0.00000824●●●●●●
548. 23853809 c.5407G>C p.E1803Q missense 0.00000824●●●●●●
549. 23866390 c.2039G>A p.R680Q missense 0.00000824●●●●●●
550. 23869484 c.1562G>A p.C521Y missense 0.00000824●●●●●●
551. 23858858 c.3803C>G p.A1268G missense 0.00000824●●●●●●
552. 23857431 c.4292T>C p.M1431T missense 0.00000824●●●●●●
553. 23876398 c.35C>T p.A12V missense 0.00000824●●●●●●
554. 23858823 c.3838G>A p.A1280T missense 0.00000824●●●●●●
555. 23853823 c.5393G>A p.R1798Q missense 0.00000824●●●●●●
556. 23868065 c.1763A>G p.D588G missense 0.00000824●●●●●●
557. 23862711 c.2945A>G p.E982G missense 0.00000824●●●●●●
558. 23858667 c.3913C>T p.R1305W missense 0.00000824●●●●●●
559. 23856974 c.4518C>A p.N1506K missense 0.00000824●●●●●●
560. 23855286 c.5014A>T p.N1672Y missense 0.00000824●●●●●●
561. 23876258 c.175G>A p.V59I missense 0.00000824●●●●●●
562. 23872617 c.838G>T p.A280S missense 0.00000824●●●●●●
563. 23868176 c.1652C>T p.A551V missense 0.00000824●●●●●●
564. 23853701 c.5515G>T p.V1839L missense 0.00000824●●●●●●
565. 23862176 c.3196G>A p.E1066K missense 0.00000824●●●●●●
566. 23856786 c.4602G>C p.Q1534H missense 0.00000824●●●●●●
567. 23862233 c.3139C>T p.R1047C missense 0.00000824●●●●●●
568. 23868011 c.1817T>C p.V606A missense 0.00000824●●●●●●
569. 23854158 c.5256C>G p.N1752K missense 0.00000824●●●●●●
570. 23867996 c.1832A>T p.Q611L missense 0.00000824●●●●●●
571. 23862551 c.3105T>G p.D1035E missense 0.00000824●●●●●●
572. 23851690 c.5743G>A p.A1915T missense 0.00000824●●●●●●
573. 23876340 c.93T>G p.F31L missense 0.00000824●●●●●●
574. 23870033 c.1295T>C p.V432A missense 0.00000824●●●●●●
575. 23862169 c.3203T>C p.I1068T missense 0.00000824●●●●●●
576. 23870052 c.1276G>A p.G426R missense 0.00000824●●●●●●
577. 23861826 c.3287T>C p.I1096T missense 0.00000824●●●●●●
578. 23855757 c.4726C>T p.R1576W missense 0.00000824●●●●●●
579. 23873979 c.583T>C p.F195L missense 0.00000824●●●●●●
580. 23869919 c.1409A>G p.D470G missense 0.00000824●●●●●●
581. 23866287 c.2053G>A p.V685M missense 0.00000824●●●●●●
582. 23863341 c.2621A>T p.E874V missense 0.00000824●●●●●●
583. 23858912 c.3749T>A p.V1250E missense 0.00000824●●●●●●
584. 23866019 c.2176A>T p.I726F missense 0.00000824●●●●●●
585. 23868032 c.1796A>T p.K599M missense 0.00000824●●●●●●
586. 23863299 c.2663A>G p.D888G missense 0.00000824●●●●●●
587. 23858890 c.3771G>T p.Q1257H missense 0.00000824●●●●●●
588. 23853872 c.5344G>C p.E1782Q missense 0.00000824●●●●●●
589. 23874432 c.502G>A p.D168N missense 0.00000824●●●●●●
590. 23853865 c.5351T>A p.M1784K missense 0.00000824●●●●●●
591. 23858803 c.3858T>G p.N1286K missense 0.00000824●●●●●●
592. 23876339 c.94G>C p.D32H missense 0.00000824●●●●●●
593. 23873546 c.694G>A p.G232S missense 0.00000824●●●●●●
594. 23853762 c.5454A>T p.E1818D missense 0.00000824●●●●●●
595. 23868212 c.1616G>A p.C539Y missense 0.00000824●●●●●●
596. 23874970 c.211G>A p.V71M missense 0.00000824●●●●●●
597. 23872568 c.887C>T p.P296L missense 0.00000824●●●●●●
598. 23856767 c.4621G>C p.E1541Q missense 0.00000824●●●●●●
599. 23853692 c.5524A>G p.M1842V missense 0.00000824●●●●●●
600. 23868039 c.1789A>G p.K597E missense 0.00000824●●●●●●
601. 23865916 c.2279T>C p.F760S missense 0.00000824●●●●●●
602. 23862588 c.3068C>T p.S1023F missense 0.00000824●●●●●●
603. 23856799 c.4589A>T p.K1530M missense 0.00000824●●●●●●
604. 23865524 c.2398C>A p.R800S missense 0.00000824●●●●●●
605. 23862217 c.3155G>A p.R1052Q missense 0.00000824●●●●●●
606. 23858140 c.4103C>T p.S1368L missense 0.00000824●●●●●●
607. 23854231 c.5183A>G p.Q1728R missense 0.00000824●●●●●●
608. 23862676 c.2980C>A p.L994M 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.