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. 23876318 c.115G>A p.V39M missense 0.00009061●●●●●●
5. 23858687 c.3893C>T p.A1298V missense 0.00009061●●●●●●
6. 23851741 c.5692T>C p.F1898L missense 0.00009060●●●●●●
7. 23862173 c.3199A>G p.S1067G missense 0.00009060●●●●●●
8. 23859651 c.3347G>A p.R1116H missense 0.00008985●●●●●●
9. 23855817 c.4666G>A p.E1556K missense 0.00008390●●●●●●
10. 23853697 c.5519A>G p.K1840R missense 0.00008245●●●●●●
11. 23853923 c.5293G>A p.A1765T 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. 23857395 c.4328C>A p.A1443D missense 0.00006590●●●●●●
30. 23863351 c.2611C>T p.R871C missense 0.00006590●●●●●●
31. 23853758 c.5458C>T p.R1820W missense 0.00006590●●●●●●
32. 23870067 c.1261G>A p.V421M missense 0.00006589●●●●●●
33. 23870084 c.1244G>C p.G415A 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. 23876356 c.77C>G p.A26G missense 0.00005767●●●●●●
40. 23855736 c.4747G>A p.E1583K 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. 23858903 c.3758C>T p.T1253M missense 0.00004943●●●●●●
52. 23857507 c.4216G>A p.V1406M missense 0.00004943●●●●●●
53. 23857492 c.4231G>A p.A1411T missense 0.00004943●●●●●●
54. 23874868 c.313C>A p.L105I missense 0.00004943●●●●●●
55. 23871766 c.1048G>A p.V350I 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. 23858602 c.3978G>C p.K1326N 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. 23863422 c.2540C>T p.T847M missense 0.00004119●●●●●●
73. 23855655 c.4828C>T p.R1610C missense 0.00004118●●●●●●
74. 23874459 c.475G>A p.D159N missense 0.00004118●●●●●●
75. 23858708 c.3872G>A p.R1291Q missense 0.00004118●●●●●●
76. 23862976 c.2827C>T p.R943C missense 0.00004118●●●●●●
77. 23858666 c.3914G>A p.R1305Q missense 0.00004118●●●●●●
78. 23862691 c.2965G>A p.E989K 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. 23863522 c.2440C>A p.L814M missense 0.00003304●●●●●●
83. 23855163 c.5137G>A p.E1713K 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. 23871675 c.1139A>C p.E380A missense 0.00003298●●●●●●
88. 23855756 c.4727G>A p.R1576Q missense 0.00003298●●●●●●
89. 23865538 c.2384G>A p.R795Q 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. 23866242 c.2098G>A p.V700M missense 0.00003296●●●●●●
94. 23857516 c.4207G>A p.E1403K missense 0.00003296●●●●●●
95. 23854136 c.5278G>A p.A1760T missense 0.00003295●●●●●●
96. 23858102 c.4141G>A p.A1381T missense 0.00003295●●●●●●
97. 23862667 c.2989G>C p.E997Q missense 0.00003295●●●●●●
98. 23858808 c.3853G>A p.E1285K missense 0.00003295●●●●●●
99. 23865497 c.2425C>T p.R809C missense 0.00003295●●●●●●
100. 23863347 c.2615G>A p.R872H missense 0.00003295●●●●●●
101. 23863081 c.2722G>A p.D908N missense 0.00003295●●●●●●
102. 23863362 c.2600A>G p.K867R missense 0.00003295●●●●●●
103. 23865937 c.2258T>C p.I753T missense 0.00003295●●●●●●
104. 23863086 c.2717G>A p.R906H missense 0.00003295●●●●●●
105. 23851738 c.5695C>T p.R1899C 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. 23868125 c.1703G>A p.R568H missense 0.00003295●●●●●●
110. 23857416 c.4307G>A p.R1436H missense 0.00003295●●●●●●
111. 23855685 c.4798C>A p.Q1600K missense 0.00003295●●●●●●
112. 23851739 c.5694C>G p.F1898L 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. 23865521 c.2401A>G p.I801V missense 0.00002472●●●●●●
132. 23866455 c.1974C>A p.N658K missense 0.00002472●●●●●●
133. 23852439 c.5656G>A p.E1886K missense 0.00002472●●●●●●
134. 23866272 c.2068delC p.Leu690TrpfsTer38 frameshift 0.00002472●●●●●●
135. 23855268 c.5032C>T p.R1678W missense 0.00002472●●●●●●
136. 23855267 c.5033G>A p.R1678Q missense 0.00002472●●●●●●
137. 23871726 c.1088T>C p.M363T missense 0.00002471●●●●●●
138. 23876333 c.100C>T p.R34C missense 0.00002471●●●●●●
139. 23861812 c.3301G>A p.V1101M missense 0.00002471●●●●●●
140. 23867966 c.1862T>A p.L621H missense 0.00002471●●●●●●
141. 23869554 c.1492G>A p.E498K missense 0.00002471●●●●●●
142. 23862727 c.2929G>C p.V977L missense 0.00002471●●●●●●
143. 23855583 c.4900G>A p.A1634T missense 0.00002471●●●●●●
144. 23861814 c.3299A>T p.Q1100L missense 0.00002471●●●●●●
145. 23866022 c.2173C>T p.R725C missense 0.00002471●●●●●●
146. 23868126 c.1702C>T p.R568C 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. 23855609 c.4874A>G p.N1625S missense 0.00002471●●●●●●
151. 23862976 c.2827C>A p.R943S missense 0.00002471●●●●●●
152. 23874530 c.404A>G p.N135S missense 0.00002471●●●●●●
153. 23853800 c.5416G>A p.A1806T missense 0.00002471●●●●●●
154. 23862568 c.3088G>C p.E1030Q missense 0.00002471●●●●●●
155. 23855690 c.4793C>T p.S1598L missense 0.00002471●●●●●●
156. 23851702 c.5731C>T p.R1911W missense 0.00002471●●●●●●
157. 23873528 c.712C>T p.R238W missense 0.00002471●●●●●●
158. 23873561 c.679G>A p.A227T missense 0.00002471●●●●●●
159. 23858859 c.3802G>T p.A1268S missense 0.00002471●●●●●●
160. 23863387 c.2575G>A p.G859R missense 0.00002471●●●●●●
161. 23874453 c.481G>A p.A161T missense 0.00002471●●●●●●
162. 23854154 c.5260G>A p.E1754K missense 0.00002471●●●●●●
163. 23855714 c.4769G>A p.R1590H missense 0.00002471●●●●●●
164. 23876273 c.160C>T p.R54W missense 0.00002471●●●●●●
165. 23862583 c.3073T>A p.S1025T 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. 23857062 c.4430G>A p.R1477H missense 0.00001652●●●●●●
179. 23871906 c.1002T>A p.D334E missense 0.00001652●●●●●●
180. 23857063 c.4429C>T p.R1477C missense 0.00001652●●●●●●
181. 23858195 c.4048G>A p.E1350K missense 0.00001652●●●●●●
182. 23871908 c.1000G>A p.D334N 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. 23855315 c.4985C>T p.A1662V missense 0.00001649●●●●●●
187. 23866783 c.1931C>T p.S644L missense 0.00001649●●●●●●
188. 23876426 c.7G>A p.D3N missense 0.00001649●●●●●●
189. 23858162 c.4081C>T p.R1361C missense 0.00001649●●●●●●
190. 23869920 c.1408G>A p.D470N missense 0.00001649●●●●●●
191. 23855254 c.5046dupG p.Leu1683AlafsTer4 frameshift 0.00001649●●●●●●
192. 23869920 c.1408G>T p.D470Y missense 0.00001649●●●●●●
193. 23857037 c.4455G>C p.K1485N missense 0.00001649●●●●●●
194. 23866768 c.1946T>C p.V649A missense 0.00001649●●●●●●
195. 23855204 c.5096G>A p.R1699Q missense 0.00001649●●●●●●
196. 23876243 c.190G>A p.E64K missense 0.00001649●●●●●●
197. 23871807 c.1007C>A p.A336D missense 0.00001649●●●●●●
198. 23870162 c.1166T>C p.M389T missense 0.00001649●●●●●●
199. 23866221 c.2119T>C p.C707R missense 0.00001648●●●●●●
200. 23857405 c.4318G>T p.A1440S missense 0.00001648●●●●●●
201. 23858107 c.4136C>A p.T1379K missense 0.00001648●●●●●●
202. 23857018 c.4474_4476delGAG p.Glu1492del inframe 0.00001648●●●●●●
203. 23856981 c.4511A>G p.N1504S missense 0.00001648●●●●●●
204. 23858906 c.3755G>A p.R1252Q missense 0.00001648●●●●●●
205. 23876348 c.85C>T p.R29W missense 0.00001648●●●●●●
206. 23866197 c.2143A>G p.I715V missense 0.00001648●●●●●●
207. 23870151 c.1177T>G p.S393A missense 0.00001648●●●●●●
208. 23855274 c.5026G>A p.V1676M missense 0.00001648●●●●●●
209. 23869955 c.1373T>C p.I458T missense 0.00001648●●●●●●
210. 23852435 c.5660C>T p.A1887V missense 0.00001648●●●●●●
211. 23852451 c.5644C>T p.R1882C missense 0.00001648●●●●●●
212. 23853898 c.5318A>T p.K1773M missense 0.00001648●●●●●●
213. 23857377 c.4346G>A p.R1449K missense 0.00001648●●●●●●
214. 23853741 c.5475G>C p.E1825D missense 0.00001648●●●●●●
215. 23857398 c.4325C>T p.A1442V missense 0.00001648●●●●●●
216. 23876258 c.175G>C p.V59L missense 0.00001648●●●●●●
217. 23866254 c.2086C>T p.R696C missense 0.00001648●●●●●●
218. 23874852 c.329C>T p.A110V missense 0.00001648●●●●●●
219. 23858092 c.4151G>A p.R1384Q missense 0.00001648●●●●●●
220. 23856794 c.4594C>G p.R1532G 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. 23876365 c.68G>A p.R23H missense 0.00001648●●●●●●
225. 23874539 c.395_396insTAC p.Pro132_Val133insThr inframe 0.00001648●●●●●●
226. 23852442 c.5653G>A p.E1885K missense 0.00001648●●●●●●
227. 23869929 c.1399G>A p.E467K missense 0.00001648●●●●●●
228. 23858103 c.4140C>A p.D1380E missense 0.00001648●●●●●●
229. 23858928 c.3733G>A p.A1245T missense 0.00001648●●●●●●
230. 23866185 c.2155G>A p.D719N missense 0.00001648●●●●●●
231. 23855568 c.4915G>A p.A1639T missense 0.00001648●●●●●●
232. 23855629 c.4854G>C p.K1618N missense 0.00001647●●●●●●
233. 23851639 c.5794A>T p.K1932X nonsense 0.00001647●●●●●●
234. 23876314 c.119C>G p.P40R missense 0.00001647●●●●●●
235. 23863087 c.2716C>A p.R906S missense 0.00001647●●●●●●
236. 23874969 c.212T>C p.V71A missense 0.00001647●●●●●●
237. 23866021 c.2174G>T p.R725L missense 0.00001647●●●●●●
238. 23861839 c.3274C>G p.Q1092E missense 0.00001647●●●●●●
239. 23862562 c.3094C>T p.Q1032X nonsense 0.00001647●●●●●●
240. 23855662 c.4821_4822delAC p.Arg1608GlnfsTer18 frameshift 0.00001647●●●●●●
241. 23870003 c.1325C>T p.T442M missense 0.00001647●●●●●●
242. 23851653 c.5780G>A p.R1927H missense 0.00001647●●●●●●
243. 23857456 c.4267C>A p.L1423I missense 0.00001647●●●●●●
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492. 23853815 c.5401G>A p.E1801K missense 0.00000824●●●●●●
493. 23868166 c.1662C>A p.Y554X nonsense 0.00000824●●●●●●
494. 23866199 c.2141G>A p.R714H missense 0.00000824●●●●●●
495. 23858858 c.3803C>G p.A1268G missense 0.00000824●●●●●●
496. 23871753 c.1061C>T p.T354M missense 0.00000824●●●●●●
497. 23870052 c.1276G>A p.G426R missense 0.00000824●●●●●●
498. 23876314 c.119C>T p.P40L missense 0.00000824●●●●●●
499. 23858823 c.3838G>A p.A1280T missense 0.00000824●●●●●●
500. 23868011 c.1817T>C p.V606A missense 0.00000824●●●●●●
501. 23862672 c.2984C>G p.T995S missense 0.00000824●●●●●●
502. 23858667 c.3913C>T p.R1305W missense 0.00000824●●●●●●
503. 23862957 c.2846G>A p.C949Y missense 0.00000824●●●●●●
504. 23856988 c.4504C>T p.R1502W missense 0.00000824●●●●●●
505. 23855309 c.4991G>A p.R1664H missense 0.00000824●●●●●●
506. 23874913 c.268A>G p.M90V missense 0.00000824●●●●●●
507. 23868029 c.1799A>T p.D600V missense 0.00000824●●●●●●
508. 23853725 c.5491G>T p.E1831X nonsense 0.00000824●●●●●●
509. 23856967 c.4525G>T p.E1509X nonsense 0.00000824●●●●●●
510. 23862232 c.3140G>A p.R1047H missense 0.00000824●●●●●●
511. 23856761 c.4627C>A p.Q1543K missense 0.00000824●●●●●●
512. 23858654 c.3926_3927delCT p.Ser1309LeufsTer32 frameshift 0.00000824●●●●●●
513. 23870122 c.1206C>A p.H402Q missense 0.00000824●●●●●●
514. 23865521 c.2401A>T p.I801F missense 0.00000824●●●●●●
515. 23862248 c.3124C>A p.Q1042K missense 0.00000824●●●●●●
516. 23854222 c.5192A>T p.K1731M missense 0.00000824●●●●●●
517. 23869956 c.1372A>G p.I458V missense 0.00000824●●●●●●
518. 23854154 c.5260G>C p.E1754Q missense 0.00000824●●●●●●
519. 23863386 c.2576G>C p.G859A missense 0.00000824●●●●●●
520. 23862169 c.3203T>C p.I1068T missense 0.00000824●●●●●●
521. 23855637 c.4846G>A p.V1616M missense 0.00000824●●●●●●
522. 23861826 c.3287T>C p.I1096T missense 0.00000824●●●●●●
523. 23858086 c.4157A>T p.E1386V missense 0.00000824●●●●●●
524. 23869481 c.1565T>C p.I522T missense 0.00000824●●●●●●
525. 23863105 c.2698C>A p.L900I missense 0.00000824●●●●●●
526. 23858912 c.3749T>A p.V1250E missense 0.00000824●●●●●●
527. 23873522 c.718G>A p.D240N missense 0.00000824●●●●●●
528. 23876340 c.93T>G p.F31L missense 0.00000824●●●●●●
529. 23858890 c.3771G>T p.Q1257H missense 0.00000824●●●●●●
530. 23855661 c.4822C>G p.R1608G missense 0.00000824●●●●●●
531. 23876344 c.89C>G p.P30R missense 0.00000824●●●●●●
532. 23869524 c.1522G>C p.E508Q missense 0.00000824●●●●●●
533. 23851645 c.5788G>C p.G1930R missense 0.00000824●●●●●●
534. 23868078 c.1750G>A p.A584T missense 0.00000824●●●●●●
535. 23862909 c.2894A>C p.K965T missense 0.00000824●●●●●●
536. 23858803 c.3858T>G p.N1286K missense 0.00000824●●●●●●
537. 23855565 c.4918G>A p.E1640K missense 0.00000824●●●●●●
538. 23872573 c.882G>C p.K294N missense 0.00000824●●●●●●
539. 23870021 c.1307T>C p.M436T missense 0.00000824●●●●●●
540. 23868065 c.1763A>G p.D588G missense 0.00000824●●●●●●
541. 23866178 c.2162G>A p.R721Q missense 0.00000824●●●●●●
542. 23866019 c.2176A>T p.I726F missense 0.00000824●●●●●●
543. 23865902 c.2292+1G>A essential splice site 0.00000824●●●●●●
544. 23871800 c.1014C>A p.D338E missense 0.00000824●●●●●●
545. 23853701 c.5515G>T p.V1839L missense 0.00000824●●●●●●
546. 23867997 c.1831C>A p.Q611K missense 0.00000824●●●●●●
547. 23862245 c.3127G>C p.E1043Q missense 0.00000824●●●●●●
548. 23862137 c.3235G>C p.E1079Q missense 0.00000824●●●●●●
549. 23856853 c.4535C>T p.S1512L missense 0.00000824●●●●●●
550. 23874507 c.427C>T p.R143W missense 0.00000824●●●●●●
551. 23870027 c.1301A>C p.E434A missense 0.00000824●●●●●●
552. 23867937 c.1891G>A p.G631R missense 0.00000824●●●●●●
553. 23863459 c.2503T>C p.Y835H missense 0.00000824●●●●●●
554. 23856773 c.4615A>C p.K1539Q missense 0.00000824●●●●●●
555. 23862217 c.3155G>A p.R1052Q missense 0.00000824●●●●●●
556. 23858150 c.4093A>G p.K1365E missense 0.00000824●●●●●●
557. 23855261 c.5039A>T p.N1680I missense 0.00000824●●●●●●
558. 23866277 c.2063A>G p.N688S missense 0.00000824●●●●●●
559. 23863341 c.2621A>T p.E874V missense 0.00000824●●●●●●
560. 23851274 c.5797-2A>G essential splice site 0.00000824●●●●●●
561. 23855720 c.4763C>A p.A1588D missense 0.00000824●●●●●●
562. 23853919 c.5297T>C p.M1766T missense 0.00000824●●●●●●
563. 23866452 c.1977delG p.K659Nfs*2 frameshift 0.00000824●●●●●●
564. 23873952 c.610C>T p.R204C missense 0.00000824●●●●●●
565. 23869560 c.1486G>C p.V496L missense 0.00000824●●●●●●
566. 23866396 c.2033A>G p.N678S missense 0.00000824●●●●●●
567. 23863357 c.2605G>A p.E869K missense 0.00000824●●●●●●
568. 23851666 c.5767C>T p.R1923X nonsense 0.00000824●●●●●●
569. 23854225 c.5189A>G p.K1730R missense 0.00000824●●●●●●
570. 23857405 c.4318G>C p.A1440P missense 0.00000824●●●●●●
571. 23876332 c.101G>A p.R34H missense 0.00000824●●●●●●
572. 23855629 c.4854G>T p.K1618N missense 0.00000824●●●●●●
573. 23853841 c.5375T>C p.I1792T missense 0.00000824●●●●●●
574. 23858800 c.3859+2T>G essential splice site 0.00000824●●●●●●
575. 23876305 c.128A>G p.K43R missense 0.00000824●●●●●●
576. 23868190 c.1638C>A p.D546E missense 0.00000824●●●●●●
577. 23866224 c.2116A>T p.I706F missense 0.00000824●●●●●●
578. 23866200 c.2140C>T p.R714C missense 0.00000824●●●●●●
579. 23862997 c.2806G>A p.A936T missense 0.00000824●●●●●●
580. 23857378 c.4345A>G p.R1449G missense 0.00000824●●●●●●
581. 23874928 c.253G>A p.D85N missense 0.00000824●●●●●●
582. 23868039 c.1789A>G p.K597E missense 0.00000824●●●●●●
583. 23865973 c.2222G>A p.R741K missense 0.00000824●●●●●●
584. 23865982 c.2213T>C p.I738T missense 0.00000824●●●●●●
585. 23868032 c.1796A>T p.K599M missense 0.00000824●●●●●●
586. 23874919 c.262G>C p.E88Q missense 0.00000824●●●●●●
587. 23868012 c.1816G>A p.V606I missense 0.00000824●●●●●●
588. 23865904 c.2291A>C p.K764T missense 0.00000824●●●●●●
589. 23862682 c.2974G>A p.A992T missense 0.00000824●●●●●●
590. 23858678 c.3902C>T p.S1301L missense 0.00000824●●●●●●
591. 23874957 c.224A>G p.Q75R missense 0.00000824●●●●●●
592. 23857027 c.4465G>A p.A1489T missense 0.00000824●●●●●●
593. 23853742 c.5474A>T p.E1825V missense 0.00000824●●●●●●
594. 23867962 c.1866C>A p.F622L missense 0.00000824●●●●●●
595. 23862551 c.3105T>G p.D1035E missense 0.00000824●●●●●●
596. 23862874 c.2928+1G>A essential splice site 0.00000824●●●●●●
597. 23856764 c.4624C>A p.L1542M missense 0.00000824●●●●●●
598. 23853692 c.5524A>G p.M1842V missense 0.00000824●●●●●●
599. 23858722 c.3860-2A>C essential splice site 0.00000824●●●●●●
600. 23874551 c.383A>G p.Y128C missense 0.00000824●●●●●●
601. 23871685 c.1129G>C p.D377H missense 0.00000824●●●●●●
602. 23867987 c.1841C>T p.S614F missense 0.00000824●●●●●●
603. 23853752 c.5464C>G p.R1822G missense 0.00000824●●●●●●
604. 23856995 c.4497dupC p.Phe1500LeufsTer17 frameshift 0.00000824●●●●●●
605. 23861826 c.3287T>A p.I1096N missense 0.00000824●●●●●●
606. 23858093 c.4150C>T p.R1384W missense 0.00000824●●●●●●
607. 23854222 c.5192A>C p.K1731T missense 0.00000824●●●●●●
608. 23855627 c.4856_4858delAGA p.Lys1619del inframe 0.00000824●●●●●●
609. 23869962 c.1366T>G p.Y456D missense 0.00000824●●●●●●
610. 23851768 c.5665G>A p.E1889K missense 0.00000824●●●●●●
611. 23856803 c.4585G>A p.E1529K missense 0.00000824●●●●●●
612. 23866753 c.1961G>A p.R654Q missense 0.00000824●●●●●●
613. 23876347 c.86G>C p.R29P missense 0.00000824●●●●●●
614. 23873585 c.655G>T p.D219Y missense 0.00000824●●●●●●
615. 23869531 c.1515G>C p.E505D missense 0.00000824●●●●●●
616. 23853872 c.5344G>C p.E1782Q missense 0.00000824●●●●●●
617. 23851653 c.5780G>T p.R1927L missense 0.00000824●●●●●●
618. 23869484 c.1562G>A p.C521Y missense 0.00000824●●●●●●
619. 23866271 c.2069T>A p.L690Q missense 0.00000824●●●●●●
620. 23863299 c.2663A>G p.D888G missense 0.00000824●●●●●●
621. 23858895 c.3766G>A p.D1256N missense 0.00000824●●●●●●
622. 23857417 c.4306C>A p.R1436S missense 0.00000824●●●●●●
623. 23853881 c.5335G>T p.A1779S missense 0.00000824●●●●●●
624. 23868090 c.1738C>A p.L580M missense 0.00000824●●●●●●
625. 23858847 c.3814C>T p.L1272F missense 0.00000824●●●●●●
626. 23866765 c.1949C>T p.S650L missense 0.00000824●●●●●●
627. 23870143 c.1185C>G p.D395E missense 0.00000824●●●●●●
628. 23869464 c.1581+1G>A essential splice site 0.00000824●●●●●●
629. 23862940 c.2863G>C p.D955H missense 0.00000824●●●●●●
630. 23858803 c.3858T>A p.N1286K missense 0.00000824●●●●●●
631. 23853823 c.5393G>A p.R1798Q missense 0.00000824●●●●●●
632. 23872576 c.879C>G p.N293K missense 0.00000824●●●●●●
633. 23868176 c.1652C>T p.A551V missense 0.00000824●●●●●●
634. 23853809 c.5407G>C p.E1803Q missense 0.00000824●●●●●●
635. 23869546 c.1500G>C p.E500D missense 0.00000824●●●●●●
636. 23862579 c.3077A>C p.K1026T missense 0.00000824●●●●●●
637. 23856974 c.4518C>A p.N1506K missense 0.00000824●●●●●●
638. 23855286 c.5014A>T p.N1672Y missense 0.00000824●●●●●●
639. 23874889 c.292G>C p.E98Q missense 0.00000824●●●●●●
640. 23871768 c.1046G>A p.G349D missense 0.00000824●●●●●●
641. 23867997 c.1831C>T p.Q611X nonsense 0.00000824●●●●●●
642. 23858600 c.3978+2T>C essential splice site 0.00000824●●●●●●
643. 23874521 c.413T>C p.V138A missense 0.00000824●●●●●●
644. 23852489 c.5606T>C p.L1869P missense 0.00000824●●●●●●
645. 23874510 c.424T>C p.Y142H missense 0.00000824●●●●●●
646. 23870033 c.1295T>C p.V432A missense 0.00000824●●●●●●
647. 23867952 c.1876G>A p.A626T missense 0.00000824●●●●●●
648. 23863474 c.2488C>T p.P830S missense 0.00000824●●●●●●
649. 23862233 c.3139C>T p.R1047C missense 0.00000824●●●●●●
650. 23855715 c.4768C>A p.R1590S missense 0.00000824●●●●●●
651. 23856786 c.4602G>C p.Q1534H missense 0.00000824●●●●●●
652. 23873972 c.590G>A p.S197N missense 0.00000824●●●●●●
653. 23869919 c.1409A>G p.D470G missense 0.00000824●●●●●●
654. 23866402 c.2027T>A p.I676N missense 0.00000824●●●●●●
655. 23863373 c.2589G>C p.E863D missense 0.00000824●●●●●●
656. 23863342 c.2620G>T p.E874X nonsense 0.00000824●●●●●●
657. 23857516 c.4207G>T p.E1403X nonsense 0.00000824●●●●●●
658. 23855757 c.4726C>T p.R1576W missense 0.00000824●●●●●●
659. 23874018 c.544G>A p.A182T missense 0.00000824●●●●●●
660. 23851726 c.5707C>A p.H1903N 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.