MYH6 protein-altering variants in ExAC

MYH6 gene summary
MYH6 variants in DCM

The table below lists the MYH6 protein-altering 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. 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. 23858217 c.4026C>A p.C1342X nonsense 0.00007474●●●●●●
19. 23871807 c.1007C>G p.A336G missense 0.00007421●●●●●●
20. 23865539 c.2383C>T p.R795W missense 0.00007421●●●●●●
21. 23874525 c.409G>A p.E137K missense 0.00007414●●●●●●
22. 23858877 c.3784C>T p.R1262C missense 0.00007414●●●●●●
23. 23855711 c.4772A>G p.N1591S missense 0.00007413●●●●●●
24. 23869560 c.1486G>A p.V496M missense 0.00007413●●●●●●
25. 23867960 c.1868C>T p.S623F missense 0.00007413●●●●●●
26. 23853676 c.5540G>A p.R1847Q missense 0.00006599●●●●●●
27. 23866253 c.2087G>A p.R696H missense 0.00006591●●●●●●
28. 23876272 c.161G>A p.R54Q missense 0.00006591●●●●●●
29. 23853758 c.5458C>T p.R1820W missense 0.00006590●●●●●●
30. 23857395 c.4328C>A p.A1443D missense 0.00006590●●●●●●
31. 23863351 c.2611C>T p.R871C missense 0.00006590●●●●●●
32. 23870084 c.1244G>C p.G415A missense 0.00006589●●●●●●
33. 23870067 c.1261G>A p.V421M missense 0.00006589●●●●●●
34. 23859652 c.3346C>A p.R1116S missense 0.00006301●●●●●●
35. 23865569 c.2353C>T p.R785C missense 0.00005780●●●●●●
36. 23871926 c.982G>A p.E328K missense 0.00005778●●●●●●
37. 23852501 c.5594G>A p.R1865Q missense 0.00005774●●●●●●
38. 23855205 c.5095C>T p.R1699W missense 0.00005771●●●●●●
39. 23855736 c.4747G>A p.E1583K missense 0.00005767●●●●●●
40. 23876356 c.77C>G p.A26G missense 0.00005767●●●●●●
41. 23857423 c.4300G>A p.V1434I missense 0.00005766●●●●●●
42. 23865989 c.2206C>A p.Q736K missense 0.00005766●●●●●●
43. 23858853 c.3808C>T p.R1270C missense 0.00005766●●●●●●
44. 23853868 c.5348G>A p.R1783H missense 0.00005766●●●●●●
45. 23855661 c.4822C>T p.R1608C missense 0.00005766●●●●●●
46. 23862975 c.2828G>A p.R943H missense 0.00005765●●●●●●
47. 23865616 c.2306C>T p.A769V missense 0.00004998●●●●●●
48. 23855199 c.5101C>T p.R1701W missense 0.00004948●●●●●●
49. 23855301 c.4999G>A p.D1667N missense 0.00004946●●●●●●
50. 23853731 c.5485G>C p.E1829Q missense 0.00004945●●●●●●
51. 23871766 c.1048G>A p.V350I missense 0.00004943●●●●●●
52. 23858903 c.3758C>T p.T1253M missense 0.00004943●●●●●●
53. 23857507 c.4216G>A p.V1406M missense 0.00004943●●●●●●
54. 23857492 c.4231G>A p.A1411T missense 0.00004943●●●●●●
55. 23874868 c.313C>A p.L105I missense 0.00004943●●●●●●
56. 23863087 c.2716C>T p.R906C missense 0.00004942●●●●●●
57. 23869981 c.1347G>T p.E449D missense 0.00004942●●●●●●
58. 23868200 c.1628A>G p.K543R missense 0.00004942●●●●●●
59. 23859652 c.3346C>T p.R1116C missense 0.00004501●●●●●●
60. 23872967 c.756C>G p.H252Q missense 0.00004259●●●●●●
61. 23855331 c.4969A>G p.I1657V missense 0.00004125●●●●●●
62. 23855760 c.4723G>A p.E1575K missense 0.00004124●●●●●●
63. 23858161 c.4082G>A p.R1361H missense 0.00004123●●●●●●
64. 23853703 c.5513C>T p.S1838L missense 0.00004122●●●●●●
65. 23858159 c.4084G>A p.V1362I missense 0.00004122●●●●●●
66. 23865523 c.2399G>A p.R800H missense 0.00004121●●●●●●
67. 23852453 c.5642A>G p.K1881R missense 0.00004120●●●●●●
68. 23863422 c.2540C>T p.T847M missense 0.00004119●●●●●●
69. 23858602 c.3978G>C p.K1326N missense 0.00004119●●●●●●
70. 23874978 c.203C>T p.T68M missense 0.00004119●●●●●●
71. 23874877 c.304C>A p.L102I missense 0.00004119●●●●●●
72. 23858874 c.3787G>A p.V1263M missense 0.00004119●●●●●●
73. 23874459 c.475G>A p.D159N missense 0.00004118●●●●●●
74. 23855655 c.4828C>T p.R1610C missense 0.00004118●●●●●●
75. 23858708 c.3872G>A p.R1291Q missense 0.00004118●●●●●●
76. 23862976 c.2827C>T p.R943C missense 0.00004118●●●●●●
77. 23862691 c.2965G>A p.E989K missense 0.00004118●●●●●●
78. 23858666 c.3914G>A p.R1305Q missense 0.00004118●●●●●●
79. 23851743 c.5690A>G p.K1897R missense 0.00004118●●●●●●
80. 23862152 c.3220G>A p.D1074N missense 0.00004118●●●●●●
81. 23858207 c.4036C>T p.R1346W missense 0.00003315●●●●●●
82. 23855163 c.5137G>A p.E1713K missense 0.00003304●●●●●●
83. 23863522 c.2440C>A p.L814M missense 0.00003304●●●●●●
84. 23857531 c.4192C>T p.R1398W missense 0.00003302●●●●●●
85. 23865556 c.2366G>A p.R789H missense 0.00003301●●●●●●
86. 23874590 c.346-2A>G essential splice site 0.00003298●●●●●●
87. 23865538 c.2384G>A p.R795Q missense 0.00003298●●●●●●
88. 23871675 c.1139A>C p.E380A missense 0.00003298●●●●●●
89. 23855756 c.4727G>A p.R1576Q missense 0.00003298●●●●●●
90. 23853710 c.5506G>A p.A1836T missense 0.00003297●●●●●●
91. 23853715 c.5501G>A p.R1834H missense 0.00003297●●●●●●
92. 23871706 c.1108C>T p.R370W missense 0.00003296●●●●●●
93. 23857516 c.4207G>A p.E1403K missense 0.00003296●●●●●●
94. 23866242 c.2098G>A p.V700M missense 0.00003296●●●●●●
95. 23851739 c.5694C>G p.F1898L missense 0.00003295●●●●●●
96. 23854136 c.5278G>A p.A1760T missense 0.00003295●●●●●●
97. 23858102 c.4141G>A p.A1381T missense 0.00003295●●●●●●
98. 23862667 c.2989G>C p.E997Q missense 0.00003295●●●●●●
99. 23858808 c.3853G>A p.E1285K missense 0.00003295●●●●●●
100. 23865497 c.2425C>T p.R809C missense 0.00003295●●●●●●
101. 23863347 c.2615G>A p.R872H missense 0.00003295●●●●●●
102. 23863081 c.2722G>A p.D908N missense 0.00003295●●●●●●
103. 23865937 c.2258T>C p.I753T missense 0.00003295●●●●●●
104. 23863362 c.2600A>G p.K867R missense 0.00003295●●●●●●
105. 23863086 c.2717G>A p.R906H missense 0.00003295●●●●●●
106. 23857417 c.4306C>T p.R1436C missense 0.00003295●●●●●●
107. 23853880 c.5336C>A p.A1779D missense 0.00003295●●●●●●
108. 23855654 c.4829G>A p.R1610H missense 0.00003295●●●●●●
109. 23851738 c.5695C>T p.R1899C missense 0.00003295●●●●●●
110. 23868125 c.1703G>A p.R568H missense 0.00003295●●●●●●
111. 23857416 c.4307G>A p.R1436H missense 0.00003295●●●●●●
112. 23855685 c.4798C>A p.Q1600K missense 0.00003295●●●●●●
113. 23859615 c.3383G>A p.R1128H missense 0.00002794●●●●●●
114. 23859484 c.3514G>A p.E1172K missense 0.00002561●●●●●●
115. 23871967 c.941T>C p.V314A missense 0.00002482●●●●●●
116. 23855159 c.5141G>A p.R1714Q missense 0.00002480●●●●●●
117. 23855770 c.4713G>T p.K1571N missense 0.00002477●●●●●●
118. 23871947 c.961G>A p.V321M missense 0.00002477●●●●●●
119. 23870172 c.1156G>A p.A386T missense 0.00002477●●●●●●
120. 0 c.-13-1G>A essential splice site 0.00002476●●●●●●
121. 23871932 c.976G>A p.D326N missense 0.00002476●●●●●●
122. 23865559 c.2363C>T p.T788M missense 0.00002476●●●●●●
123. 23852502 c.5593C>T p.R1865W missense 0.00002475●●●●●●
124. 23855198 c.5102G>A p.R1701Q missense 0.00002474●●●●●●
125. 23871799 c.1015G>A p.V339M missense 0.00002473●●●●●●
126. 23855298 c.5002G>A p.D1668N missense 0.00002473●●●●●●
127. 23873927 c.635C>T p.A212V missense 0.00002473●●●●●●
128. 23855310 c.4990C>T p.R1664C missense 0.00002473●●●●●●
129. 23865524 c.2398C>T p.R800C missense 0.00002473●●●●●●
130. 23866780 c.1934C>T p.S645F missense 0.00002473●●●●●●
131. 23866272 c.2068delC p.Leu690TrpfsTer38 frameshift 0.00002472●●●●●●
132. 23855268 c.5032C>T p.R1678W missense 0.00002472●●●●●●
133. 23855267 c.5033G>A p.R1678Q missense 0.00002472●●●●●●
134. 23866455 c.1974C>A p.N658K missense 0.00002472●●●●●●
135. 23865521 c.2401A>G p.I801V missense 0.00002472●●●●●●
136. 23852439 c.5656G>A p.E1886K missense 0.00002472●●●●●●
137. 23862583 c.3073T>A p.S1025T missense 0.00002471●●●●●●
138. 23876333 c.100C>T p.R34C missense 0.00002471●●●●●●
139. 23871726 c.1088T>C p.M363T missense 0.00002471●●●●●●
140. 23861812 c.3301G>A p.V1101M missense 0.00002471●●●●●●
141. 23867966 c.1862T>A p.L621H missense 0.00002471●●●●●●
142. 23869554 c.1492G>A p.E498K missense 0.00002471●●●●●●
143. 23862727 c.2929G>C p.V977L missense 0.00002471●●●●●●
144. 23855583 c.4900G>A p.A1634T missense 0.00002471●●●●●●
145. 23861814 c.3299A>T p.Q1100L missense 0.00002471●●●●●●
146. 23866022 c.2173C>T p.R725C missense 0.00002471●●●●●●
147. 23856793 c.4595G>A p.R1532H missense 0.00002471●●●●●●
148. 23851727 c.5706G>T p.Q1902H missense 0.00002471●●●●●●
149. 23866276 c.2064C>A p.N688K missense 0.00002471●●●●●●
150. 23862976 c.2827C>A p.R943S missense 0.00002471●●●●●●
151. 23855609 c.4874A>G p.N1625S missense 0.00002471●●●●●●
152. 23874530 c.404A>G p.N135S missense 0.00002471●●●●●●
153. 23868126 c.1702C>T p.R568C missense 0.00002471●●●●●●
154. 23853800 c.5416G>A p.A1806T missense 0.00002471●●●●●●
155. 23862568 c.3088G>C p.E1030Q missense 0.00002471●●●●●●
156. 23855690 c.4793C>T p.S1598L missense 0.00002471●●●●●●
157. 23851702 c.5731C>T p.R1911W missense 0.00002471●●●●●●
158. 23873528 c.712C>T p.R238W missense 0.00002471●●●●●●
159. 23873561 c.679G>A p.A227T missense 0.00002471●●●●●●
160. 23858859 c.3802G>T p.A1268S missense 0.00002471●●●●●●
161. 23863387 c.2575G>A p.G859R missense 0.00002471●●●●●●
162. 23874453 c.481G>A p.A161T missense 0.00002471●●●●●●
163. 23854154 c.5260G>A p.E1754K missense 0.00002471●●●●●●
164. 23855714 c.4769G>A p.R1590H missense 0.00002471●●●●●●
165. 23876273 c.160C>T p.R54W missense 0.00002471●●●●●●
166. 23872977 c.746T>C p.I249T missense 0.00002200●●●●●●
167. 23859655 c.3343G>A p.A1115T missense 0.00001810●●●●●●
168. 23858227 c.4016G>A p.R1339Q missense 0.00001669●●●●●●
169. 23857131 c.4361T>A p.I1454N missense 0.00001665●●●●●●
170. 23857123 c.4369G>A p.E1457K missense 0.00001663●●●●●●
171. 23857105 c.4387G>A p.E1463K missense 0.00001660●●●●●●
172. 23857101 c.4391A>C p.E1464A missense 0.00001659●●●●●●
173. 23857102 c.4390G>T p.E1464X nonsense 0.00001659●●●●●●
174. 23865593 c.2329G>A p.E777K missense 0.00001656●●●●●●
175. 23865590 c.2332A>T p.M778L missense 0.00001655●●●●●●
176. 23857541 c.4182G>C p.K1394N missense 0.00001655●●●●●●
177. 23857072 c.4420A>G p.K1474E missense 0.00001654●●●●●●
178. 23871908 c.1000G>A p.D334N missense 0.00001652●●●●●●
179. 23857062 c.4430G>A p.R1477H missense 0.00001652●●●●●●
180. 23871906 c.1002T>A p.D334E missense 0.00001652●●●●●●
181. 23857063 c.4429C>T p.R1477C missense 0.00001652●●●●●●
182. 23858195 c.4048G>A p.E1350K missense 0.00001652●●●●●●
183. 23855165 c.5135G>T p.S1712I missense 0.00001651●●●●●●
184. 23865557 c.2365C>T p.R789C missense 0.00001651●●●●●●
185. 23853674 c.5542C>T p.R1848C missense 0.00001650●●●●●●
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. 23855315 c.4985C>T p.A1662V missense 0.00001649●●●●●●
190. 23866783 c.1931C>T p.S644L missense 0.00001649●●●●●●
191. 23876426 c.7G>A p.D3N missense 0.00001649●●●●●●
192. 23858162 c.4081C>T p.R1361C missense 0.00001649●●●●●●
193. 23869920 c.1408G>A p.D470N missense 0.00001649●●●●●●
194. 23869920 c.1408G>T p.D470Y missense 0.00001649●●●●●●
195. 23855254 c.5046dupG p.Leu1683AlafsTer4 frameshift 0.00001649●●●●●●
196. 23857037 c.4455G>C p.K1485N missense 0.00001649●●●●●●
197. 23866768 c.1946T>C p.V649A missense 0.00001649●●●●●●
198. 23855204 c.5096G>A p.R1699Q missense 0.00001649●●●●●●
199. 23855568 c.4915G>A p.A1639T missense 0.00001648●●●●●●
200. 23866185 c.2155G>A p.D719N missense 0.00001648●●●●●●
201. 23866221 c.2119T>C p.C707R missense 0.00001648●●●●●●
202. 23857405 c.4318G>T p.A1440S missense 0.00001648●●●●●●
203. 23857018 c.4474_4476delGAG p.Glu1492del inframe 0.00001648●●●●●●
204. 23856981 c.4511A>G p.N1504S missense 0.00001648●●●●●●
205. 23858107 c.4136C>A p.T1379K missense 0.00001648●●●●●●
206. 23876348 c.85C>T p.R29W missense 0.00001648●●●●●●
207. 23858906 c.3755G>A p.R1252Q missense 0.00001648●●●●●●
208. 23866197 c.2143A>G p.I715V missense 0.00001648●●●●●●
209. 23870151 c.1177T>G p.S393A missense 0.00001648●●●●●●
210. 23855274 c.5026G>A p.V1676M missense 0.00001648●●●●●●
211. 23869955 c.1373T>C p.I458T missense 0.00001648●●●●●●
212. 23852451 c.5644C>T p.R1882C missense 0.00001648●●●●●●
213. 23852435 c.5660C>T p.A1887V missense 0.00001648●●●●●●
214. 23853898 c.5318A>T p.K1773M missense 0.00001648●●●●●●
215. 23857377 c.4346G>A p.R1449K missense 0.00001648●●●●●●
216. 23853741 c.5475G>C p.E1825D missense 0.00001648●●●●●●
217. 23857398 c.4325C>T p.A1442V missense 0.00001648●●●●●●
218. 23874852 c.329C>T p.A110V missense 0.00001648●●●●●●
219. 23876258 c.175G>C p.V59L missense 0.00001648●●●●●●
220. 23866254 c.2086C>T p.R696C missense 0.00001648●●●●●●
221. 23855264 c.5036G>A p.R1679H missense 0.00001648●●●●●●
222. 23871742 c.1072A>G p.M358V missense 0.00001648●●●●●●
223. 23855277 c.5023A>G p.I1675V missense 0.00001648●●●●●●
224. 23858092 c.4151G>A p.R1384Q missense 0.00001648●●●●●●
225. 23856794 c.4594C>G p.R1532G missense 0.00001648●●●●●●
226. 23876365 c.68G>A p.R23H missense 0.00001648●●●●●●
227. 23874539 c.395_396insTAC p.Pro132_Val133insThr inframe 0.00001648●●●●●●
228. 23852442 c.5653G>A p.E1885K missense 0.00001648●●●●●●
229. 23869929 c.1399G>A p.E467K missense 0.00001648●●●●●●
230. 23858103 c.4140C>A p.D1380E missense 0.00001648●●●●●●
231. 23858928 c.3733G>A p.A1245T missense 0.00001648●●●●●●
232. 23862635 c.3021G>T p.Q1007H missense 0.00001647●●●●●●
233. 23862218 c.3154C>T p.R1052X nonsense 0.00001647●●●●●●
234. 23863032 c.2771T>C p.M924T missense 0.00001647●●●●●●
235. 23855629 c.4854G>C p.K1618N missense 0.00001647●●●●●●
236. 23851639 c.5794A>T p.K1932X nonsense 0.00001647●●●●●●
237. 23876314 c.119C>G p.P40R missense 0.00001647●●●●●●
238. 23863087 c.2716C>A p.R906S missense 0.00001647●●●●●●
239. 23866021 c.2174G>T p.R725L missense 0.00001647●●●●●●
240. 23874969 c.212T>C p.V71A missense 0.00001647●●●●●●
241. 23862562 c.3094C>T p.Q1032X nonsense 0.00001647●●●●●●
242. 23861839 c.3274C>G p.Q1092E missense 0.00001647●●●●●●
243. 23855662 c.4821_4822delAC p.Arg1608GlnfsTer18 frameshift 0.00001647●●●●●●
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491. 23868087 c.1741A>G p.I581V missense 0.00000824●●●●●●
492. 23868045 c.1783C>G p.L595V missense 0.00000824●●●●●●
493. 23862956 c.2847C>A p.C949X nonsense 0.00000824●●●●●●
494. 23866390 c.2039G>A p.R680Q missense 0.00000824●●●●●●
495. 23865927 c.2268C>A p.N756K missense 0.00000824●●●●●●
496. 23858720 c.3860G>A p.G1287E missense 0.00000824●●●●●●
497. 23855534 c.4949G>A p.S1650N missense 0.00000824●●●●●●
498. 23867996 c.1832A>T p.Q611L missense 0.00000824●●●●●●
499. 23862176 c.3196G>A p.E1066K missense 0.00000824●●●●●●
500. 23862565 c.3091C>A p.Q1031K missense 0.00000824●●●●●●
501. 23856832 c.4556G>A p.G1519E missense 0.00000824●●●●●●
502. 23865901 c.2292+2T>C essential splice site 0.00000824●●●●●●
503. 23855229 c.5071C>T p.R1691C missense 0.00000824●●●●●●
504. 23853695 c.5521G>A p.G1841S missense 0.00000824●●●●●●
505. 23866762 c.1952C>T p.A651V missense 0.00000824●●●●●●
506. 23863395 c.2567A>G p.E856G missense 0.00000824●●●●●●
507. 23862209 c.3163C>T p.R1055W missense 0.00000824●●●●●●
508. 23858140 c.4103C>T p.S1368L missense 0.00000824●●●●●●
509. 23854157 c.5257G>C p.A1753P missense 0.00000824●●●●●●
510. 23858097 c.4146_4148delTCA p.Ile1382_Gln1383delinsMet inframe 0.00000824●●●●●●
511. 23858103 c.4140C>G p.D1380E missense 0.00000824●●●●●●
512. 23856833 c.4555G>T p.Gly1519Ter nonsense 0.00000824●●●●●●
513. 23870007 c.1321G>A p.V441M missense 0.00000824●●●●●●
514. 23863434 c.2528A>G p.K843R missense 0.00000824●●●●●●
515. 23855612 c.4871T>C p.L1624P missense 0.00000824●●●●●●
516. 23855633 c.4850A>C p.K1617T missense 0.00000824●●●●●●
517. 23857428 c.4295T>A p.V1432E missense 0.00000824●●●●●●
518. 23855715 c.4768C>T p.R1590C missense 0.00000824●●●●●●
519. 23851690 c.5743G>A p.A1915T missense 0.00000824●●●●●●
520. 23876360 c.73G>A p.E25K missense 0.00000824●●●●●●
521. 23866379 c.2050G>C p.G684R missense 0.00000824●●●●●●
522. 23851665 c.5768G>A p.R1923Q missense 0.00000824●●●●●●
523. 23854154 c.5260G>T p.E1754X nonsense 0.00000824●●●●●●
524. 23869526 c.1520T>C p.I507T missense 0.00000824●●●●●●
525. 23863333 c.2629G>A p.E877K missense 0.00000824●●●●●●
526. 23857468 c.4255A>C p.T1419P missense 0.00000824●●●●●●
527. 23851266 c.5803dupA p.Met1935AsnfsTer4 frameshift 0.00000824●●●●●●
528. 23866223 c.2117T>A p.I706N missense 0.00000824●●●●●●
529. 23853815 c.5401G>A p.E1801K missense 0.00000824●●●●●●
530. 23868166 c.1662C>A p.Y554X nonsense 0.00000824●●●●●●
531. 23866199 c.2141G>A p.R714H missense 0.00000824●●●●●●
532. 23858858 c.3803C>G p.A1268G missense 0.00000824●●●●●●
533. 23871753 c.1061C>T p.T354M missense 0.00000824●●●●●●
534. 23870052 c.1276G>A p.G426R missense 0.00000824●●●●●●
535. 23876314 c.119C>T p.P40L missense 0.00000824●●●●●●
536. 23858823 c.3838G>A p.A1280T missense 0.00000824●●●●●●
537. 23853827 c.5389C>G p.H1797D missense 0.00000824●●●●●●
538. 23872640 c.815C>T p.S272F missense 0.00000824●●●●●●
539. 23862672 c.2984C>G p.T995S missense 0.00000824●●●●●●
540. 23858667 c.3913C>T p.R1305W missense 0.00000824●●●●●●
541. 23862957 c.2846G>A p.C949Y missense 0.00000824●●●●●●
542. 23856988 c.4504C>T p.R1502W missense 0.00000824●●●●●●
543. 23855309 c.4991G>A p.R1664H missense 0.00000824●●●●●●
544. 23874913 c.268A>G p.M90V missense 0.00000824●●●●●●
545. 23868029 c.1799A>T p.D600V missense 0.00000824●●●●●●
546. 23853725 c.5491G>T p.E1831X nonsense 0.00000824●●●●●●
547. 23868011 c.1817T>C p.V606A missense 0.00000824●●●●●●
548. 23862232 c.3140G>A p.R1047H missense 0.00000824●●●●●●
549. 23856761 c.4627C>A p.Q1543K missense 0.00000824●●●●●●
550. 23858654 c.3926_3927delCT p.Ser1309LeufsTer32 frameshift 0.00000824●●●●●●
551. 23870122 c.1206C>A p.H402Q missense 0.00000824●●●●●●
552. 23865521 c.2401A>T p.I801F missense 0.00000824●●●●●●
553. 23862248 c.3124C>A p.Q1042K missense 0.00000824●●●●●●
554. 23856967 c.4525G>T p.E1509X nonsense 0.00000824●●●●●●
555. 23854154 c.5260G>C p.E1754Q missense 0.00000824●●●●●●
556. 23863386 c.2576G>C p.G859A missense 0.00000824●●●●●●
557. 23862169 c.3203T>C p.I1068T missense 0.00000824●●●●●●
558. 23855637 c.4846G>A p.V1616M missense 0.00000824●●●●●●
559. 23861826 c.3287T>C p.I1096T missense 0.00000824●●●●●●
560. 23858086 c.4157A>T p.E1386V missense 0.00000824●●●●●●
561. 23854222 c.5192A>T p.K1731M missense 0.00000824●●●●●●
562. 23869956 c.1372A>G p.I458V missense 0.00000824●●●●●●
563. 23863105 c.2698C>A p.L900I missense 0.00000824●●●●●●
564. 23858912 c.3749T>A p.V1250E missense 0.00000824●●●●●●
565. 23873522 c.718G>A p.D240N missense 0.00000824●●●●●●
566. 23876340 c.93T>G p.F31L missense 0.00000824●●●●●●
567. 23858890 c.3771G>T p.Q1257H missense 0.00000824●●●●●●
568. 23855661 c.4822C>G p.R1608G missense 0.00000824●●●●●●
569. 23876344 c.89C>G p.P30R missense 0.00000824●●●●●●
570. 23869524 c.1522G>C p.E508Q missense 0.00000824●●●●●●
571. 23851645 c.5788G>C p.G1930R missense 0.00000824●●●●●●
572. 23869481 c.1565T>C p.I522T missense 0.00000824●●●●●●
573. 23858803 c.3858T>G p.N1286K missense 0.00000824●●●●●●
574. 23855565 c.4918G>A p.E1640K missense 0.00000824●●●●●●
575. 23872573 c.882G>C p.K294N missense 0.00000824●●●●●●
576. 23870021 c.1307T>C p.M436T missense 0.00000824●●●●●●
577. 23868065 c.1763A>G p.D588G missense 0.00000824●●●●●●
578. 23866178 c.2162G>A p.R721Q missense 0.00000824●●●●●●
579. 23866019 c.2176A>T p.I726F missense 0.00000824●●●●●●
580. 23868078 c.1750G>A p.A584T missense 0.00000824●●●●●●
581. 23862909 c.2894A>C p.K965T missense 0.00000824●●●●●●
582. 23853701 c.5515G>T p.V1839L missense 0.00000824●●●●●●
583. 23867997 c.1831C>A p.Q611K missense 0.00000824●●●●●●
584. 23862245 c.3127G>C p.E1043Q missense 0.00000824●●●●●●
585. 23862137 c.3235G>C p.E1079Q missense 0.00000824●●●●●●
586. 23856853 c.4535C>T p.S1512L missense 0.00000824●●●●●●
587. 23865902 c.2292+1G>A essential splice site 0.00000824●●●●●●
588. 23871800 c.1014C>A p.D338E missense 0.00000824●●●●●●
589. 23856773 c.4615A>C p.K1539Q missense 0.00000824●●●●●●
590. 23862217 c.3155G>A p.R1052Q missense 0.00000824●●●●●●
591. 23858150 c.4093A>G p.K1365E missense 0.00000824●●●●●●
592. 23855261 c.5039A>T p.N1680I missense 0.00000824●●●●●●
593. 23874507 c.427C>T p.R143W missense 0.00000824●●●●●●
594. 23870027 c.1301A>C p.E434A missense 0.00000824●●●●●●
595. 23867937 c.1891G>A p.G631R missense 0.00000824●●●●●●
596. 23863459 c.2503T>C p.Y835H missense 0.00000824●●●●●●
597. 23851274 c.5797-2A>G essential splice site 0.00000824●●●●●●
598. 23855720 c.4763C>A p.A1588D missense 0.00000824●●●●●●
599. 23853919 c.5297T>C p.M1766T missense 0.00000824●●●●●●
600. 23866452 c.1977delG p.K659Nfs*2 frameshift 0.00000824●●●●●●
601. 23873952 c.610C>T p.R204C missense 0.00000824●●●●●●
602. 23869560 c.1486G>C p.V496L missense 0.00000824●●●●●●
603. 23866396 c.2033A>G p.N678S missense 0.00000824●●●●●●
604. 23863357 c.2605G>A p.E869K missense 0.00000824●●●●●●
605. 23851666 c.5767C>T p.R1923X nonsense 0.00000824●●●●●●
606. 23854225 c.5189A>G p.K1730R missense 0.00000824●●●●●●
607. 23866277 c.2063A>G p.N688S missense 0.00000824●●●●●●
608. 23863341 c.2621A>T p.E874V missense 0.00000824●●●●●●
609. 23855629 c.4854G>T p.K1618N missense 0.00000824●●●●●●
610. 23853841 c.5375T>C p.I1792T missense 0.00000824●●●●●●
611. 23858800 c.3859+2T>G essential splice site 0.00000824●●●●●●
612. 23876305 c.128A>G p.K43R missense 0.00000824●●●●●●
613. 23868190 c.1638C>A p.D546E missense 0.00000824●●●●●●
614. 23866224 c.2116A>T p.I706F missense 0.00000824●●●●●●
615. 23866200 c.2140C>T p.R714C missense 0.00000824●●●●●●
616. 23862997 c.2806G>A p.A936T missense 0.00000824●●●●●●
617. 23857378 c.4345A>G p.R1449G missense 0.00000824●●●●●●
618. 23876332 c.101G>A p.R34H missense 0.00000824●●●●●●
619. 23865982 c.2213T>C p.I738T missense 0.00000824●●●●●●
620. 23868032 c.1796A>T p.K599M missense 0.00000824●●●●●●
621. 23868012 c.1816G>A p.V606I missense 0.00000824●●●●●●
622. 23865904 c.2291A>C p.K764T missense 0.00000824●●●●●●
623. 23862682 c.2974G>A p.A992T missense 0.00000824●●●●●●
624. 23858678 c.3902C>T p.S1301L missense 0.00000824●●●●●●
625. 23874957 c.224A>G p.Q75R missense 0.00000824●●●●●●
626. 23857027 c.4465G>A p.A1489T missense 0.00000824●●●●●●
627. 23853742 c.5474A>T p.E1825V missense 0.00000824●●●●●●
628. 23874928 c.253G>A p.D85N missense 0.00000824●●●●●●
629. 23868039 c.1789A>G p.K597E missense 0.00000824●●●●●●
630. 23865973 c.2222G>A p.R741K missense 0.00000824●●●●●●
631. 23862874 c.2928+1G>A essential splice site 0.00000824●●●●●●
632. 23856764 c.4624C>A p.L1542M missense 0.00000824●●●●●●
633. 23853692 c.5524A>G p.M1842V missense 0.00000824●●●●●●
634. 23858722 c.3860-2A>C essential splice site 0.00000824●●●●●●
635. 23874551 c.383A>G p.Y128C missense 0.00000824●●●●●●
636. 23871685 c.1129G>C p.D377H missense 0.00000824●●●●●●
637. 23867987 c.1841C>T p.S614F missense 0.00000824●●●●●●
638. 23867962 c.1866C>A p.F622L missense 0.00000824●●●●●●
639. 23862551 c.3105T>G p.D1035E missense 0.00000824●●●●●●
640. 23854222 c.5192A>C p.K1731T missense 0.00000824●●●●●●
641. 23855627 c.4856_4858delAGA p.Lys1619del inframe 0.00000824●●●●●●
642. 23869962 c.1366T>G p.Y456D missense 0.00000824●●●●●●
643. 23851768 c.5665G>A p.E1889K missense 0.00000824●●●●●●
644. 23856803 c.4585G>A p.E1529K missense 0.00000824●●●●●●
645. 23866753 c.1961G>A p.R654Q missense 0.00000824●●●●●●
646. 23853752 c.5464C>G p.R1822G missense 0.00000824●●●●●●
647. 23856995 c.4497dupC p.Phe1500LeufsTer17 frameshift 0.00000824●●●●●●
648. 23861826 c.3287T>A p.I1096N missense 0.00000824●●●●●●
649. 23858093 c.4150C>T p.R1384W missense 0.00000824●●●●●●
650. 23869484 c.1562G>A p.C521Y missense 0.00000824●●●●●●
651. 23866271 c.2069T>A p.L690Q missense 0.00000824●●●●●●
652. 23863299 c.2663A>G p.D888G missense 0.00000824●●●●●●
653. 23858895 c.3766G>A p.D1256N missense 0.00000824●●●●●●
654. 23857417 c.4306C>A p.R1436S missense 0.00000824●●●●●●
655. 23853881 c.5335G>T p.A1779S missense 0.00000824●●●●●●
656. 23876347 c.86G>C p.R29P missense 0.00000824●●●●●●
657. 23873585 c.655G>T p.D219Y missense 0.00000824●●●●●●
658. 23869531 c.1515G>C p.E505D missense 0.00000824●●●●●●
659. 23853872 c.5344G>C p.E1782Q missense 0.00000824●●●●●●
660. 23851653 c.5780G>T p.R1927L 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.