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. 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. 23870067 c.1261G>A p.V421M missense 0.00006589●●●●●●
32. 23870084 c.1244G>C p.G415A 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. 23853868 c.5348G>A p.R1783H missense 0.00005766●●●●●●
41. 23855661 c.4822C>T p.R1608C missense 0.00005766●●●●●●
42. 23865989 c.2206C>A p.Q736K missense 0.00005766●●●●●●
43. 23857423 c.4300G>A p.V1434I missense 0.00005766●●●●●●
44. 23858853 c.3808C>T p.R1270C 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. 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. 23858159 c.4084G>A p.V1362I missense 0.00004122●●●●●●
64. 23853703 c.5513C>T p.S1838L 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. 23862691 c.2965G>A p.E989K missense 0.00004118●●●●●●
73. 23858666 c.3914G>A p.R1305Q missense 0.00004118●●●●●●
74. 23862976 c.2827C>T p.R943C missense 0.00004118●●●●●●
75. 23855655 c.4828C>T p.R1610C missense 0.00004118●●●●●●
76. 23862152 c.3220G>A p.D1074N missense 0.00004118●●●●●●
77. 23851743 c.5690A>G p.K1897R missense 0.00004118●●●●●●
78. 23874459 c.475G>A p.D159N missense 0.00004118●●●●●●
79. 23858708 c.3872G>A p.R1291Q 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. 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. 23853710 c.5506G>A p.A1836T missense 0.00003297●●●●●●
89. 23853715 c.5501G>A p.R1834H 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. 23857417 c.4306C>T p.R1436C missense 0.00003295●●●●●●
94. 23853880 c.5336C>A p.A1779D missense 0.00003295●●●●●●
95. 23857416 c.4307G>A p.R1436H missense 0.00003295●●●●●●
96. 23865937 c.2258T>C p.I753T missense 0.00003295●●●●●●
97. 23855654 c.4829G>A p.R1610H missense 0.00003295●●●●●●
98. 23863086 c.2717G>A p.R906H missense 0.00003295●●●●●●
99. 23851738 c.5695C>T p.R1899C missense 0.00003295●●●●●●
100. 23858102 c.4141G>A p.A1381T missense 0.00003295●●●●●●
101. 23855685 c.4798C>A p.Q1600K missense 0.00003295●●●●●●
102. 23863081 c.2722G>A p.D908N missense 0.00003295●●●●●●
103. 23858808 c.3853G>A p.E1285K missense 0.00003295●●●●●●
104. 23854136 c.5278G>A p.A1760T missense 0.00003295●●●●●●
105. 23851739 c.5694C>G p.F1898L missense 0.00003295●●●●●●
106. 23868125 c.1703G>A p.R568H missense 0.00003295●●●●●●
107. 23862667 c.2989G>C p.E997Q missense 0.00003295●●●●●●
108. 23865497 c.2425C>T p.R809C missense 0.00003295●●●●●●
109. 23863362 c.2600A>G p.K867R missense 0.00003295●●●●●●
110. 23863347 c.2615G>A p.R872H 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. 23865559 c.2363C>T p.T788M missense 0.00002476●●●●●●
119. 23871932 c.976G>A p.D326N 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. 23874453 c.481G>A p.A161T missense 0.00002471●●●●●●
134. 23869554 c.1492G>A p.E498K missense 0.00002471●●●●●●
135. 23853800 c.5416G>A p.A1806T missense 0.00002471●●●●●●
136. 23861814 c.3299A>T p.Q1100L missense 0.00002471●●●●●●
137. 23876333 c.100C>T p.R34C missense 0.00002471●●●●●●
138. 23867966 c.1862T>A p.L621H missense 0.00002471●●●●●●
139. 23851727 c.5706G>T p.Q1902H missense 0.00002471●●●●●●
140. 23861812 c.3301G>A p.V1101M missense 0.00002471●●●●●●
141. 23855714 c.4769G>A p.R1590H missense 0.00002471●●●●●●
142. 23873561 c.679G>A p.A227T missense 0.00002471●●●●●●
143. 23854154 c.5260G>A p.E1754K missense 0.00002471●●●●●●
144. 23862727 c.2929G>C p.V977L missense 0.00002471●●●●●●
145. 23862976 c.2827C>A p.R943S missense 0.00002471●●●●●●
146. 23858859 c.3802G>T p.A1268S missense 0.00002471●●●●●●
147. 23863387 c.2575G>A p.G859R missense 0.00002471●●●●●●
148. 23866022 c.2173C>T p.R725C missense 0.00002471●●●●●●
149. 23874530 c.404A>G p.N135S missense 0.00002471●●●●●●
150. 23851702 c.5731C>T p.R1911W missense 0.00002471●●●●●●
151. 23876273 c.160C>T p.R54W missense 0.00002471●●●●●●
152. 23873528 c.712C>T p.R238W missense 0.00002471●●●●●●
153. 23862583 c.3073T>A p.S1025T missense 0.00002471●●●●●●
154. 23855583 c.4900G>A p.A1634T missense 0.00002471●●●●●●
155. 23868126 c.1702C>T p.R568C missense 0.00002471●●●●●●
156. 23866276 c.2064C>A p.N688K missense 0.00002471●●●●●●
157. 23855609 c.4874A>G p.N1625S missense 0.00002471●●●●●●
158. 23855690 c.4793C>T p.S1598L missense 0.00002471●●●●●●
159. 23862568 c.3088G>C p.E1030Q missense 0.00002471●●●●●●
160. 23856793 c.4595G>A p.R1532H missense 0.00002471●●●●●●
161. 23871726 c.1088T>C p.M363T 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. 23869920 c.1408G>T p.D470Y missense 0.00001649●●●●●●
182. 23876243 c.190G>A p.E64K missense 0.00001649●●●●●●
183. 23871807 c.1007C>A p.A336D missense 0.00001649●●●●●●
184. 23870162 c.1166T>C p.M389T missense 0.00001649●●●●●●
185. 23855204 c.5096G>A p.R1699Q missense 0.00001649●●●●●●
186. 23858162 c.4081C>T p.R1361C missense 0.00001649●●●●●●
187. 23855315 c.4985C>T p.A1662V missense 0.00001649●●●●●●
188. 23857037 c.4455G>C p.K1485N missense 0.00001649●●●●●●
189. 23866768 c.1946T>C p.V649A missense 0.00001649●●●●●●
190. 23869920 c.1408G>A p.D470N missense 0.00001649●●●●●●
191. 23866783 c.1931C>T p.S644L missense 0.00001649●●●●●●
192. 23876426 c.7G>A p.D3N missense 0.00001649●●●●●●
193. 23858906 c.3755G>A p.R1252Q missense 0.00001648●●●●●●
194. 23870151 c.1177T>G p.S393A missense 0.00001648●●●●●●
195. 23855264 c.5036G>A p.R1679H missense 0.00001648●●●●●●
196. 23855277 c.5023A>G p.I1675V missense 0.00001648●●●●●●
197. 23866185 c.2155G>A p.D719N missense 0.00001648●●●●●●
198. 23856794 c.4594C>G p.R1532G missense 0.00001648●●●●●●
199. 23874852 c.329C>T p.A110V missense 0.00001648●●●●●●
200. 23858107 c.4136C>A p.T1379K missense 0.00001648●●●●●●
201. 23855568 c.4915G>A p.A1639T missense 0.00001648●●●●●●
202. 23876348 c.85C>T p.R29W missense 0.00001648●●●●●●
203. 23852451 c.5644C>T p.R1882C missense 0.00001648●●●●●●
204. 23876258 c.175G>C p.V59L missense 0.00001648●●●●●●
205. 23874539 c.395_396insTAC p.Pro132_Val133insThr inframe 0.00001648●●●●●●
206. 23869929 c.1399G>A p.E467K missense 0.00001648●●●●●●
207. 23857405 c.4318G>T p.A1440S missense 0.00001648●●●●●●
208. 23866221 c.2119T>C p.C707R missense 0.00001648●●●●●●
209. 23856981 c.4511A>G p.N1504S missense 0.00001648●●●●●●
210. 23852435 c.5660C>T p.A1887V missense 0.00001648●●●●●●
211. 23866197 c.2143A>G p.I715V missense 0.00001648●●●●●●
212. 23869955 c.1373T>C p.I458T missense 0.00001648●●●●●●
213. 23858928 c.3733G>A p.A1245T missense 0.00001648●●●●●●
214. 23857398 c.4325C>T p.A1442V missense 0.00001648●●●●●●
215. 23855274 c.5026G>A p.V1676M missense 0.00001648●●●●●●
216. 23852442 c.5653G>A p.E1885K missense 0.00001648●●●●●●
217. 23871742 c.1072A>G p.M358V missense 0.00001648●●●●●●
218. 23853898 c.5318A>T p.K1773M missense 0.00001648●●●●●●
219. 23866254 c.2086C>T p.R696C missense 0.00001648●●●●●●
220. 23857377 c.4346G>A p.R1449K missense 0.00001648●●●●●●
221. 23858092 c.4151G>A p.R1384Q missense 0.00001648●●●●●●
222. 23857018 c.4474_4476delGAG p.Glu1492del inframe 0.00001648●●●●●●
223. 23876365 c.68G>A p.R23H missense 0.00001648●●●●●●
224. 23853741 c.5475G>C p.E1825D missense 0.00001648●●●●●●
225. 23858103 c.4140C>A p.D1380E missense 0.00001648●●●●●●
226. 23863065 c.2738A>G p.N913S missense 0.00001647●●●●●●
227. 23866421 c.2008C>T p.H670Y missense 0.00001647●●●●●●
228. 23862705 c.2951T>C p.M984T missense 0.00001647●●●●●●
229. 23861839 c.3274C>G p.Q1092E missense 0.00001647●●●●●●
230. 23862635 c.3021G>T p.Q1007H missense 0.00001647●●●●●●
231. 23863408 c.2554G>A p.A852T missense 0.00001647●●●●●●
232. 23873506 c.734T>C p.F245S missense 0.00001647●●●●●●
233. 23873549 c.691T>C p.F231L missense 0.00001647●●●●●●
234. 23876314 c.119C>G p.P40R missense 0.00001647●●●●●●
235. 23874969 c.212T>C p.V71A missense 0.00001647●●●●●●
236. 23863032 c.2771T>C p.M924T missense 0.00001647●●●●●●
237. 23857437 c.4286A>T p.D1429V missense 0.00001647●●●●●●
238. 23863371 c.2591C>T p.T864M missense 0.00001647●●●●●●
239. 23866021 c.2174G>T p.R725L missense 0.00001647●●●●●●
240. 23874906 c.275T>C p.M92T missense 0.00001647●●●●●●
241. 23855629 c.4854G>C p.K1618N missense 0.00001647●●●●●●
242. 23873527 c.713G>A p.R238Q missense 0.00001647●●●●●●
243. 23870079 c.1249A>G p.S417G missense 0.00001647●●●●●●
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490. 23862676 c.2980C>A p.L994M missense 0.00000824●●●●●●
491. 23865524 c.2398C>A p.R800S missense 0.00000824●●●●●●
492. 23862217 c.3155G>A p.R1052Q missense 0.00000824●●●●●●
493. 23858140 c.4103C>T p.S1368L missense 0.00000824●●●●●●
494. 23873522 c.718G>A p.D240N missense 0.00000824●●●●●●
495. 23866754 c.1960C>T p.R654W missense 0.00000824●●●●●●
496. 23863392 c.2570A>G p.E857G missense 0.00000824●●●●●●
497. 23851644 c.5789G>A p.G1930D missense 0.00000824●●●●●●
498. 23866417 c.2012T>G p.F671C missense 0.00000824●●●●●●
499. 23863377 c.2585A>G p.K862R missense 0.00000824●●●●●●
500. 23855691 c.4792T>C p.S1598P missense 0.00000824●●●●●●
501. 23853895 c.5321A>G p.E1774G missense 0.00000824●●●●●●
502. 23857371 c.4352T>C p.F1451S missense 0.00000824●●●●●●
503. 23855627 c.4856_4858delAGA p.Lys1619del inframe 0.00000824●●●●●●
504. 23855576 c.4907G>A p.R1636H missense 0.00000824●●●●●●
505. 23853824 c.5392C>T p.R1798W missense 0.00000824●●●●●●
506. 23870021 c.1307T>C p.M436T missense 0.00000824●●●●●●
507. 23876360 c.73G>A p.E25K missense 0.00000824●●●●●●
508. 23869539 c.1507A>G p.K503E missense 0.00000824●●●●●●
509. 23866275 c.2065C>A p.P689T missense 0.00000824●●●●●●
510. 23854157 c.5257G>C p.A1753P missense 0.00000824●●●●●●
511. 23876314 c.119C>T p.P40L missense 0.00000824●●●●●●
512. 23856974 c.4518C>G p.N1506K missense 0.00000824●●●●●●
513. 23853735 c.5481G>C p.E1827D missense 0.00000824●●●●●●
514. 23872640 c.815C>T p.S272F missense 0.00000824●●●●●●
515. 23868178 c.1650G>C p.K550N missense 0.00000824●●●●●●
516. 23862245 c.3127G>C p.E1043Q missense 0.00000824●●●●●●
517. 23855633 c.4850A>C p.K1617T missense 0.00000824●●●●●●
518. 23868090 c.1738C>A p.L580M missense 0.00000824●●●●●●
519. 23858678 c.3902C>T p.S1301L missense 0.00000824●●●●●●
520. 23874913 c.268A>G p.M90V missense 0.00000824●●●●●●
521. 23868012 c.1816G>A p.V606I missense 0.00000824●●●●●●
522. 23855612 c.4871T>C p.L1624P missense 0.00000824●●●●●●
523. 23867997 c.1831C>A p.Q611K missense 0.00000824●●●●●●
524. 23862565 c.3091C>A p.Q1031K missense 0.00000824●●●●●●
525. 23870122 c.1206C>A p.H402Q missense 0.00000824●●●●●●
526. 23863434 c.2528A>G p.K843R missense 0.00000824●●●●●●
527. 23858103 c.4140C>G p.D1380E missense 0.00000824●●●●●●
528. 23861826 c.3287T>A p.I1096N missense 0.00000824●●●●●●
529. 23858086 c.4157A>T p.E1386V missense 0.00000824●●●●●●
530. 23854211 c.5203G>A p.D1735N missense 0.00000824●●●●●●
531. 23854147 c.5267A>G p.K1756R missense 0.00000824●●●●●●
532. 23858895 c.3766G>A p.D1256N missense 0.00000824●●●●●●
533. 23857410 c.4313A>T p.N1438I missense 0.00000824●●●●●●
534. 23855660 c.4823G>A p.R1608H missense 0.00000824●●●●●●
535. 23853875 c.5341C>A p.L1781M missense 0.00000824●●●●●●
536. 23869546 c.1500G>C p.E500D missense 0.00000824●●●●●●
537. 23870143 c.1185C>G p.D395E missense 0.00000824●●●●●●
538. 23866379 c.2050G>C p.G684R missense 0.00000824●●●●●●
539. 23862957 c.2846G>A p.C949Y missense 0.00000824●●●●●●
540. 23876344 c.89C>G p.P30R missense 0.00000824●●●●●●
541. 23869499 c.1547T>C p.M516T missense 0.00000824●●●●●●
542. 23853788 c.5428G>A p.G1810S missense 0.00000824●●●●●●
543. 23865982 c.2213T>C p.I738T missense 0.00000824●●●●●●
544. 23869468 c.1578G>C p.E526D missense 0.00000824●●●●●●
545. 23866223 c.2117T>A p.I706N missense 0.00000824●●●●●●
546. 23862997 c.2806G>A p.A936T missense 0.00000824●●●●●●
547. 23858847 c.3814C>T p.L1272F missense 0.00000824●●●●●●
548. 23858803 c.3858T>A p.N1286K missense 0.00000824●●●●●●
549. 23855534 c.4949G>A p.S1650N missense 0.00000824●●●●●●
550. 23853812 c.5404G>A p.A1802T missense 0.00000824●●●●●●
551. 23868044 c.1784T>A p.L595Q missense 0.00000824●●●●●●
552. 23865927 c.2268C>A p.N756K missense 0.00000824●●●●●●
553. 23862672 c.2984C>G p.T995S missense 0.00000824●●●●●●
554. 23856832 c.4556G>A p.G1519E missense 0.00000824●●●●●●
555. 23872573 c.882G>C p.K294N missense 0.00000824●●●●●●
556. 23855229 c.5071C>T p.R1691C missense 0.00000824●●●●●●
557. 23853694 c.5522G>A p.G1841D missense 0.00000824●●●●●●
558. 23865521 c.2401A>T p.I801F missense 0.00000824●●●●●●
559. 23862221 c.3151G>A p.E1051K missense 0.00000824●●●●●●
560. 23858150 c.4093A>G p.K1365E missense 0.00000824●●●●●●
561. 23871800 c.1014C>A p.D338E missense 0.00000824●●●●●●
562. 23867987 c.1841C>T p.S614F missense 0.00000824●●●●●●
563. 23862235 c.3137T>C p.V1046A missense 0.00000824●●●●●●
564. 23876383 c.50G>A p.R17H missense 0.00000824●●●●●●
565. 23855715 c.4768C>T p.R1590C missense 0.00000824●●●●●●
566. 23851665 c.5768G>A p.R1923Q missense 0.00000824●●●●●●
567. 23874507 c.427C>T p.R143W missense 0.00000824●●●●●●
568. 23870007 c.1321G>A p.V441M missense 0.00000824●●●●●●
569. 23866762 c.1952C>T p.A651V missense 0.00000824●●●●●●
570. 23863395 c.2567A>G p.E856G missense 0.00000824●●●●●●
571. 23873509 c.731G>A p.R244H missense 0.00000824●●●●●●
572. 23868078 c.1750G>A p.A584T missense 0.00000824●●●●●●
573. 23863386 c.2576G>C p.G859A missense 0.00000824●●●●●●
574. 23857468 c.4255A>C p.T1419P missense 0.00000824●●●●●●
575. 23855740 c.4743G>T p.K1581N missense 0.00000824●●●●●●
576. 23873952 c.610C>T p.R204C missense 0.00000824●●●●●●
577. 23863304 c.2658G>C p.K886N missense 0.00000824●●●●●●
578. 23863409 c.2553G>A p.M851I missense 0.00000824●●●●●●
579. 23862137 c.3235G>C p.E1079Q missense 0.00000824●●●●●●
580. 23858859 c.3802G>A p.A1268T missense 0.00000824●●●●●●
581. 23855647 c.4836G>C p.E1612D missense 0.00000824●●●●●●
582. 23853827 c.5389C>G p.H1797D missense 0.00000824●●●●●●
583. 23866765 c.1949C>T p.S650L missense 0.00000824●●●●●●
584. 23866178 c.2162G>A p.R721Q missense 0.00000824●●●●●●
585. 23862909 c.2894A>C p.K965T missense 0.00000824●●●●●●
586. 23855261 c.5039A>T p.N1680I missense 0.00000824●●●●●●
587. 23876332 c.101G>A p.R34H missense 0.00000824●●●●●●
588. 23856988 c.4504C>T p.R1502W missense 0.00000824●●●●●●
589. 23855309 c.4991G>A p.R1664H missense 0.00000824●●●●●●
590. 23876305 c.128A>G p.K43R missense 0.00000824●●●●●●
591. 23866199 c.2141G>A p.R714H missense 0.00000824●●●●●●
592. 23862928 c.2875C>G p.L959V missense 0.00000824●●●●●●
593. 23874957 c.224A>G p.Q75R missense 0.00000824●●●●●●
594. 23856761 c.4627C>A p.Q1543K missense 0.00000824●●●●●●
595. 23874928 c.253G>A p.D85N missense 0.00000824●●●●●●
596. 23868023 c.1805T>C p.L602P missense 0.00000824●●●●●●
597. 23852489 c.5606T>C p.L1869P missense 0.00000824●●●●●●
598. 23868003 c.1825C>A p.L609M missense 0.00000824●●●●●●
599. 23869526 c.1520T>C p.I507T missense 0.00000824●●●●●●
600. 23871685 c.1129G>C p.D377H missense 0.00000824●●●●●●
601. 23867962 c.1866C>A p.F622L missense 0.00000824●●●●●●
602. 23851726 c.5707C>A p.H1903N missense 0.00000824●●●●●●
603. 23867937 c.1891G>A p.G631R missense 0.00000824●●●●●●
604. 23863459 c.2503T>C p.Y835H missense 0.00000824●●●●●●
605. 23858093 c.4150C>T p.R1384W missense 0.00000824●●●●●●
606. 23854222 c.5192A>T p.K1731M missense 0.00000824●●●●●●
607. 23851768 c.5665G>A p.E1889K missense 0.00000824●●●●●●
608. 23874551 c.383A>G p.Y128C 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.