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. 23874919 c.262G>C p.E88Q missense 0.00000824●●●●●●
2. 23872967 c.756C>G p.H252Q missense 0.00004259●●●●●●
3. 23868126 c.1702C>T p.R568C missense 0.00002471●●●●●●
4. 23866242 c.2098G>A p.V700M missense 0.00003296●●●●●●
5. 23865538 c.2384G>A p.R795Q missense 0.00003298●●●●●●
6. 23865521 c.2401A>G p.I801V missense 0.00002472●●●●●●
7. 23859652 c.3346C>A p.R1116S missense 0.00006301●●●●●●
8. 23857405 c.4318G>C p.A1440P missense 0.00000824●●●●●●
9. 23857395 c.4328C>A p.A1443D missense 0.00006590●●●●●●
10. 23857123 c.4369G>A p.E1457K missense 0.00001663●●●●●●
11. 23853758 c.5458C>T p.R1820W missense 0.00006590●●●●●●
12. 23852501 c.5594G>A p.R1865Q missense 0.00005774●●●●●●
13. 23852439 c.5656G>A p.E1886K missense 0.00002472●●●●●●
14. 23853752 c.5464C>G p.R1822G missense 0.00000824●●●●●●
15. 23854136 c.5278G>A p.A1760T missense 0.00003295●●●●●●
16. 23854157 c.5257G>C p.A1753P missense 0.00000824●●●●●●
17. 23855261 c.5039A>T p.N1680I missense 0.00000824●●●●●●
18. 23855267 c.5033G>A p.R1678Q missense 0.00002472●●●●●●
19. 23855633 c.4850A>C p.K1617T missense 0.00000824●●●●●●
20. 23855702 c.4781G>A p.R1594Q missense 0.00001647●●●●●●
21. 23855817 c.4666G>A p.E1556K missense 0.00008390●●●●●●
22. 23857062 c.4430G>A p.R1477H missense 0.00001652●●●●●●
23. 23857398 c.4325C>T p.A1442V missense 0.00001648●●●●●●
24. 23857416 c.4307G>A p.R1436H missense 0.00003295●●●●●●
25. 23857431 c.4292T>C p.M1431T missense 0.00000824●●●●●●
26. 23857492 c.4231G>A p.A1411T missense 0.00004943●●●●●●
27. 23858092 c.4151G>A p.R1384Q missense 0.00001648●●●●●●
28. 23861812 c.3301G>A p.V1101M missense 0.00002471●●●●●●
29. 23861824 c.3289G>A p.E1097K missense 0.00001647●●●●●●
30. 23862137 c.3235G>C p.E1079Q missense 0.00000824●●●●●●
31. 23862173 c.3199A>G p.S1067G missense 0.00009060●●●●●●
32. 23862727 c.2929G>C p.V977L missense 0.00002471●●●●●●
33. 23862957 c.2846G>A p.C949Y missense 0.00000824●●●●●●
34. 23863065 c.2738A>G p.N913S missense 0.00001647●●●●●●
35. 23863087 c.2716C>T p.R906C missense 0.00004942●●●●●●
36. 23863362 c.2600A>G p.K867R missense 0.00003295●●●●●●
37. 23863522 c.2440C>A p.L814M missense 0.00003304●●●●●●
38. 23865616 c.2306C>T p.A769V missense 0.00004998●●●●●●
39. 23866455 c.1974C>A p.N658K missense 0.00002472●●●●●●
40. 23868078 c.1750G>A p.A584T missense 0.00000824●●●●●●
41. 23869981 c.1347G>T p.E449D missense 0.00004942●●●●●●
42. 23870052 c.1276G>A p.G426R missense 0.00000824●●●●●●
43. 23870172 c.1156G>A p.A386T missense 0.00002477●●●●●●
44. 23871726 c.1088T>C p.M363T missense 0.00002471●●●●●●
45. 23871807 c.1007C>G p.A336G missense 0.00007421●●●●●●
46. 23871926 c.982G>A p.E328K missense 0.00005778●●●●●●
47. 23874842 c.339G>T p.M113I missense 0.00000825●●●●●●
48. 23874852 c.329C>T p.A110V missense 0.00001648●●●●●●
49. 23876318 c.115G>A p.V39M missense 0.00009061●●●●●●
50. 23876383 c.50G>A p.R17H missense 0.00000824●●●●●●
51. 23868200 c.1628A>G p.K543R missense 0.00004942●●●●●●
52. 23865587 c.2335C>T p.R779W missense 0.00000827●●●●●●
53. 23867943 c.1885G>A p.D629N missense 0.00009885●●●●●●
54. 23869526 c.1520T>C p.I507T missense 0.00000824●●●●●●
55. 23851739 c.5694C>G p.F1898L missense 0.00003295●●●●●●
56. 23852468 c.5627A>G p.K1876R missense 0.00008241●●●●●●
57. 23853715 c.5501G>A p.R1834H missense 0.00003297●●●●●●
58. 23855160 c.5140C>T p.R1714W missense 0.00000826●●●●●●
59. 23855165 c.5135G>T p.S1712I missense 0.00001651●●●●●●
60. 23855298 c.5002G>A p.D1668N missense 0.00002473●●●●●●
61. 23855661 c.4822C>T p.R1608C missense 0.00005766●●●●●●
62. 23855711 c.4772A>G p.N1591S missense 0.00007413●●●●●●
63. 23855762 c.4721T>A p.I1574N missense 0.00000825●●●●●●
64. 23856773 c.4615A>C p.K1539Q missense 0.00000824●●●●●●
65. 23856786 c.4602G>C p.Q1534H missense 0.00000824●●●●●●
66. 23856794 c.4594C>T p.R1532C missense 0.00009886●●●●●●
67. 23857063 c.4429C>T p.R1477C missense 0.00001652●●●●●●
68. 23857507 c.4216G>A p.V1406M missense 0.00004943●●●●●●
69. 23858825 c.3836G>A p.R1279Q missense 0.00001647●●●●●●
70. 23858903 c.3758C>T p.T1253M missense 0.00004943●●●●●●
71. 23862705 c.2951T>C p.M984T missense 0.00001647●●●●●●
72. 23863371 c.2591C>T p.T864M missense 0.00001647●●●●●●
73. 23863514 c.2448C>G p.I816M missense 0.00000826●●●●●●
74. 23865525 c.2397G>A p.M799I missense 0.00000824●●●●●●
75. 23865539 c.2383C>T p.R795W missense 0.00007421●●●●●●
76. 23865557 c.2365C>T p.R789C missense 0.00001651●●●●●●
77. 23865565 c.2357T>A p.I786N missense 0.00000825●●●●●●
78. 23865989 c.2206C>A p.Q736K missense 0.00005766●●●●●●
79. 23868032 c.1796A>T p.K599M missense 0.00000824●●●●●●
80. 23870000 c.1328G>A p.R443H missense 0.00008237●●●●●●
81. 23870067 c.1261G>A p.V421M missense 0.00006589●●●●●●
82. 23870079 c.1249A>G p.S417G missense 0.00001647●●●●●●
83. 23870143 c.1185C>G p.D395E missense 0.00000824●●●●●●
84. 23870151 c.1177T>G p.S393A missense 0.00001648●●●●●●
85. 23871753 c.1061C>T p.T354M missense 0.00000824●●●●●●
86. 23871766 c.1048G>A p.V350I missense 0.00004943●●●●●●
87. 23873509 c.731G>A p.R244H missense 0.00000824●●●●●●
88. 23873549 c.691T>C p.F231L missense 0.00001647●●●●●●
89. 23873561 c.679G>A p.A227T missense 0.00002471●●●●●●
90. 23874503 c.431G>T p.G144V missense 0.00009884●●●●●●
91. 23876312 c.121G>A p.D41N missense 0.00000824●●●●●●
92. 23876340 c.93T>G p.F31L missense 0.00000824●●●●●●
93. 23851264 c.5805G>T p.M1935I missense 0.00001647●●●●●●
94. 23851698 c.5735C>T p.A1912V missense 0.00001647●●●●●●
95. 23851738 c.5695C>T p.R1899C missense 0.00003295●●●●●●
96. 23853697 c.5519A>G p.K1840R missense 0.00008245●●●●●●
97. 23853757 c.5459G>A p.R1820Q missense 0.00008238●●●●●●
98. 23854225 c.5189A>G p.K1730R missense 0.00000824●●●●●●
99. 23855163 c.5137G>A p.E1713K missense 0.00003304●●●●●●
100. 23855583 c.4900G>A p.A1634T missense 0.00002471●●●●●●
101. 23855637 c.4846G>A p.V1616M missense 0.00000824●●●●●●
102. 23855714 c.4769G>A p.R1590H missense 0.00002471●●●●●●
103. 23855760 c.4723G>A p.E1575K missense 0.00004124●●●●●●
104. 23855798 c.4685G>T p.R1562L missense 0.00000832●●●●●●
105. 23856803 c.4585G>A p.E1529K missense 0.00000824●●●●●●
106. 23856981 c.4511A>G p.N1504S missense 0.00001648●●●●●●
107. 23857101 c.4391A>C p.E1464A missense 0.00001659●●●●●●
108. 23857531 c.4192C>T p.R1398W missense 0.00003302●●●●●●
109. 23858207 c.4036C>T p.R1346W missense 0.00003315●●●●●●
110. 23858254 c.3989C>T p.A1330V missense 0.00000873●●●●●●
111. 23858687 c.3893C>T p.A1298V missense 0.00009061●●●●●●
112. 23858808 c.3853G>A p.E1285K missense 0.00003295●●●●●●
113. 23858853 c.3808C>T p.R1270C missense 0.00005766●●●●●●
114. 23858874 c.3787G>A p.V1263M missense 0.00004119●●●●●●
115. 23859615 c.3383G>A p.R1128H missense 0.00002794●●●●●●
116. 23859651 c.3347G>A p.R1116H missense 0.00008985●●●●●●
117. 23859652 c.3346C>T p.R1116C missense 0.00004501●●●●●●
118. 23859655 c.3343G>A p.A1115T missense 0.00001810●●●●●●
119. 23862152 c.3220G>A p.D1074N missense 0.00004118●●●●●●
120. 23862583 c.3073T>A p.S1025T missense 0.00002471●●●●●●
121. 23862691 c.2965G>A p.E989K missense 0.00004118●●●●●●
122. 23863351 c.2611C>T p.R871C missense 0.00006590●●●●●●
123. 23863387 c.2575G>A p.G859R missense 0.00002471●●●●●●
124. 23863409 c.2553G>A p.M851I missense 0.00000824●●●●●●
125. 23865937 c.2258T>C p.I753T missense 0.00003295●●●●●●
126. 23866019 c.2176A>T p.I726F missense 0.00000824●●●●●●
127. 23866765 c.1949C>T p.S650L missense 0.00000824●●●●●●
128. 23868087 c.1741A>G p.I581V missense 0.00000824●●●●●●
129. 23868125 c.1703G>A p.R568H missense 0.00003295●●●●●●
130. 23869546 c.1500G>C p.E500D missense 0.00000824●●●●●●
131. 23869554 c.1492G>A p.E498K missense 0.00002471●●●●●●
132. 23871906 c.1002T>A p.D334E missense 0.00001652●●●●●●
133. 23871967 c.941T>C p.V314A missense 0.00002482●●●●●●
134. 23871980 c.928G>A p.D310N missense 0.00000830●●●●●●
135. 23873506 c.734T>C p.F245S missense 0.00001647●●●●●●
136. 23873522 c.718G>A p.D240N missense 0.00000824●●●●●●
137. 23874459 c.475G>A p.D159N missense 0.00004118●●●●●●
138. 23874494 c.440G>A p.R147K missense 0.00000824●●●●●●
139. 23876258 c.175G>C p.V59L missense 0.00001648●●●●●●
140. 23876273 c.160C>T p.R54W missense 0.00002471●●●●●●
141. 23876426 c.7G>A p.D3N missense 0.00001649●●●●●●
142. 23851727 c.5706G>T p.Q1902H missense 0.00002471●●●●●●
143. 23869511 c.1535T>C p.I512T missense 0.00001647●●●●●●
144. 23870084 c.1244G>C p.G415A missense 0.00006589●●●●●●
145. 23863032 c.2771T>C p.M924T missense 0.00001647●●●●●●
146. 23862676 c.2980C>A p.L994M missense 0.00000824●●●●●●
147. 23852509 c.5586C>G p.N1862K missense 0.00000828●●●●●●
148. 23853674 c.5542C>T p.R1848C missense 0.00001650●●●●●●
149. 23854158 c.5256C>G p.N1752K missense 0.00000824●●●●●●
150. 23855612 c.4871T>C p.L1624P missense 0.00000824●●●●●●
151. 23855690 c.4793C>T p.S1598L missense 0.00002471●●●●●●
152. 23855715 c.4768C>A p.R1590S missense 0.00000824●●●●●●
153. 23857037 c.4455G>C p.K1485N missense 0.00001649●●●●●●
154. 23857072 c.4420A>G p.K1474E missense 0.00001654●●●●●●
155. 23857429 c.4294G>A p.V1432M missense 0.00000824●●●●●●
156. 23858161 c.4082G>A p.R1361H missense 0.00004123●●●●●●
157. 23858877 c.3784C>T p.R1262C missense 0.00007414●●●●●●
158. 23861839 c.3274C>G p.Q1092E missense 0.00001647●●●●●●
159. 23862176 c.3196G>A p.E1066K missense 0.00000824●●●●●●
160. 23862245 c.3127G>C p.E1043Q missense 0.00000824●●●●●●
161. 23862928 c.2875C>G p.L959V missense 0.00000824●●●●●●
162. 23863086 c.2717G>A p.R906H missense 0.00003295●●●●●●
163. 23865523 c.2399G>A p.R800H missense 0.00004121●●●●●●
164. 23865556 c.2366G>A p.R789H missense 0.00003301●●●●●●
165. 23865569 c.2353C>T p.R785C missense 0.00005780●●●●●●
166. 23865922 c.2273A>G p.Y758C missense 0.00001647●●●●●●
167. 23865982 c.2213T>C p.I738T missense 0.00000824●●●●●●
168. 23866004 c.2191G>T p.A731S missense 0.00000824●●●●●●
169. 23866390 c.2039G>A p.R680Q missense 0.00000824●●●●●●
170. 23866768 c.1946T>C p.V649A missense 0.00001649●●●●●●
171. 23866783 c.1931C>T p.S644L missense 0.00001649●●●●●●
172. 23869635 c.1411T>C p.F471L missense 0.00000828●●●●●●
173. 23870021 c.1307T>C p.M436T missense 0.00000824●●●●●●
174. 23871908 c.1000G>A p.D334N missense 0.00001652●●●●●●
175. 23871971 c.937T>G p.F313V missense 0.00000828●●●●●●
176. 23873527 c.713G>A p.R238Q missense 0.00001647●●●●●●
177. 23873528 c.712C>T p.R238W missense 0.00002471●●●●●●
178. 23873937 c.625A>G p.N209D missense 0.00000824●●●●●●
179. 23876356 c.77C>G p.A26G missense 0.00005767●●●●●●
180. 23851644 c.5789G>A p.G1930D missense 0.00000824●●●●●●
181. 23851645 c.5788G>C p.G1930R missense 0.00000824●●●●●●
182. 23851653 c.5780G>T p.R1927L missense 0.00000824●●●●●●
183. 23851653 c.5780G>A p.R1927H missense 0.00001647●●●●●●
184. 23851665 c.5768G>A p.R1923Q missense 0.00000824●●●●●●
185. 23851680 c.5753A>T p.Q1918L missense 0.00000824●●●●●●
186. 23851690 c.5743G>A p.A1915T missense 0.00000824●●●●●●
187. 23851702 c.5731C>T p.R1911W missense 0.00002471●●●●●●
188. 23851726 c.5707C>A p.H1903N missense 0.00000824●●●●●●
189. 23851741 c.5692T>C p.F1898L missense 0.00009060●●●●●●
190. 23851743 c.5690A>G p.K1897R missense 0.00004118●●●●●●
191. 23851768 c.5665G>A p.E1889K missense 0.00000824●●●●●●
192. 23851770 c.5663A>C p.E1888A missense 0.00000824●●●●●●
193. 23852435 c.5660C>T p.A1887V missense 0.00001648●●●●●●
194. 23852442 c.5653G>A p.E1885K missense 0.00001648●●●●●●
195. 23852450 c.5645G>T p.R1882L missense 0.00000824●●●●●●
196. 23852451 c.5644C>T p.R1882C missense 0.00001648●●●●●●
197. 23852453 c.5642A>G p.K1881R missense 0.00004120●●●●●●
198. 23852489 c.5606T>C p.L1869P missense 0.00000824●●●●●●
199. 23852502 c.5593C>T p.R1865W missense 0.00002475●●●●●●
200. 23853656 c.5560T>C p.Y1854H missense 0.00000826●●●●●●
201. 23853676 c.5540G>A p.R1847Q missense 0.00006599●●●●●●
202. 23853682 c.5534G>T p.S1845I missense 0.00000825●●●●●●
203. 23853692 c.5524A>G p.M1842V missense 0.00000824●●●●●●
204. 23853694 c.5522G>A p.G1841D missense 0.00000824●●●●●●
205. 23853695 c.5521G>A p.G1841S missense 0.00000824●●●●●●
206. 23853701 c.5515G>T p.V1839L missense 0.00000824●●●●●●
207. 23853703 c.5513C>T p.S1838L missense 0.00004122●●●●●●
208. 23853710 c.5506G>A p.A1836T missense 0.00003297●●●●●●
209. 23853731 c.5485G>C p.E1829Q missense 0.00004945●●●●●●
210. 23853735 c.5481G>C p.E1827D missense 0.00000824●●●●●●
211. 23853741 c.5475G>C p.E1825D missense 0.00001648●●●●●●
212. 23853742 c.5474A>T p.E1825V missense 0.00000824●●●●●●
213. 23853762 c.5454A>T p.E1818D missense 0.00000824●●●●●●
214. 23853788 c.5428G>A p.G1810S missense 0.00000824●●●●●●
215. 23853800 c.5416G>A p.A1806T missense 0.00002471●●●●●●
216. 23853809 c.5407G>C p.E1803Q missense 0.00000824●●●●●●
217. 23853812 c.5404G>A p.A1802T missense 0.00000824●●●●●●
218. 23853815 c.5401G>A p.E1801K missense 0.00000824●●●●●●
219. 23853823 c.5393G>A p.R1798Q missense 0.00000824●●●●●●
220. 23853824 c.5392C>T p.R1798W missense 0.00000824●●●●●●
221. 23853827 c.5389C>G p.H1797D missense 0.00000824●●●●●●
222. 23853841 c.5375T>C p.I1792T missense 0.00000824●●●●●●
223. 23853865 c.5351T>A p.M1784K missense 0.00000824●●●●●●
224. 23853866 c.5350A>G p.M1784V missense 0.00001647●●●●●●
225. 23853868 c.5348G>A p.R1783H missense 0.00005766●●●●●●
226. 23853872 c.5344G>C p.E1782Q missense 0.00000824●●●●●●
227. 23853875 c.5341C>A p.L1781M missense 0.00000824●●●●●●
228. 23853880 c.5336C>A p.A1779D missense 0.00003295●●●●●●
229. 23853881 c.5335G>T p.A1779S missense 0.00000824●●●●●●
230. 23853895 c.5321A>G p.E1774G missense 0.00000824●●●●●●
231. 23853898 c.5318A>T p.K1773M missense 0.00001648●●●●●●
232. 23853919 c.5297T>C p.M1766T missense 0.00000824●●●●●●
233. 23853923 c.5293G>A p.A1765T missense 0.00008245●●●●●●
234. 23854147 c.5267A>G p.K1756R missense 0.00000824●●●●●●
235. 23854154 c.5260G>C p.E1754Q missense 0.00000824●●●●●●
236. 23854154 c.5260G>A p.E1754K missense 0.00002471●●●●●●
237. 23854211 c.5203G>A p.D1735N missense 0.00000824●●●●●●
238. 23854222 c.5192A>T p.K1731M missense 0.00000824●●●●●●
239. 23854222 c.5192A>C p.K1731T missense 0.00000824●●●●●●
240. 23854231 c.5183A>G p.Q1728R missense 0.00000824●●●●●●
241. 23855144 c.5156A>G p.H1719R missense 0.00000828●●●●●●
242. 23855153 c.5147A>G p.Q1716R missense 0.00000827●●●●●●
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487. 23868011 c.1817T>C p.V606A missense 0.00000824●●●●●●
488. 23868012 c.1816G>A p.V606I missense 0.00000824●●●●●●
489. 23868023 c.1805T>C p.L602P missense 0.00000824●●●●●●
490. 23868029 c.1799A>T p.D600V missense 0.00000824●●●●●●
491. 23868039 c.1789A>G p.K597E missense 0.00000824●●●●●●
492. 23868044 c.1784T>A p.L595Q missense 0.00000824●●●●●●
493. 23868045 c.1783C>G p.L595V missense 0.00000824●●●●●●
494. 23868065 c.1763A>G p.D588G missense 0.00000824●●●●●●
495. 23868090 c.1738C>A p.L580M missense 0.00000824●●●●●●
496. 23868101 c.1727C>T p.A576V missense 0.00000824●●●●●●
497. 23868176 c.1652C>T p.A551V missense 0.00000824●●●●●●
498. 23868178 c.1650G>C p.K550N missense 0.00000824●●●●●●
499. 23868189 c.1639A>G p.M547V missense 0.00001647●●●●●●
500. 23868190 c.1638C>A p.D546E missense 0.00000824●●●●●●
501. 23868212 c.1616G>A p.C539Y missense 0.00000824●●●●●●
502. 23869468 c.1578G>C p.E526D missense 0.00000824●●●●●●
503. 23869481 c.1565T>C p.I522T missense 0.00000824●●●●●●
504. 23869484 c.1562G>A p.C521Y missense 0.00000824●●●●●●
505. 23869499 c.1547T>C p.M516T missense 0.00000824●●●●●●
506. 23869524 c.1522G>C p.E508Q missense 0.00000824●●●●●●
507. 23869531 c.1515G>C p.E505D missense 0.00000824●●●●●●
508. 23869539 c.1507A>G p.K503E missense 0.00000824●●●●●●
509. 23869560 c.1486G>A p.V496M missense 0.00007413●●●●●●
510. 23869560 c.1486G>C p.V496L missense 0.00000824●●●●●●
511. 23869919 c.1409A>G p.D470G missense 0.00000824●●●●●●
512. 23869920 c.1408G>A p.D470N missense 0.00001649●●●●●●
513. 23869920 c.1408G>T p.D470Y missense 0.00001649●●●●●●
514. 23869929 c.1399G>A p.E467K missense 0.00001648●●●●●●
515. 23869955 c.1373T>C p.I458T missense 0.00001648●●●●●●
516. 23869956 c.1372A>G p.I458V missense 0.00000824●●●●●●
517. 23869962 c.1366T>G p.Y456D missense 0.00000824●●●●●●
518. 23870003 c.1325C>T p.T442M missense 0.00001647●●●●●●
519. 23870007 c.1321G>A p.V441M missense 0.00000824●●●●●●
520. 23870027 c.1301A>C p.E434A missense 0.00000824●●●●●●
521. 23870033 c.1295T>C p.V432A missense 0.00000824●●●●●●
522. 23870122 c.1206C>A p.H402Q missense 0.00000824●●●●●●
523. 23870162 c.1166T>C p.M389T missense 0.00001649●●●●●●
524. 23870178 c.1150A>G p.K384E missense 0.00000827●●●●●●
525. 23871675 c.1139A>C p.E380A missense 0.00003298●●●●●●
526. 23871685 c.1129G>C p.D377H missense 0.00000824●●●●●●
527. 23871689 c.1125G>T p.E375D missense 0.00000824●●●●●●
528. 23871706 c.1108C>T p.R370W missense 0.00003296●●●●●●
529. 23871742 c.1072A>G p.M358V missense 0.00001648●●●●●●
530. 23871768 c.1046G>A p.G349D missense 0.00000824●●●●●●
531. 23871799 c.1015G>A p.V339M missense 0.00002473●●●●●●
532. 23871800 c.1014C>A p.D338E missense 0.00000824●●●●●●
533. 23871807 c.1007C>A p.A336D missense 0.00001649●●●●●●
534. 23871914 c.994G>A p.A332T missense 0.00000826●●●●●●
535. 23871932 c.976G>A p.D326N missense 0.00002476●●●●●●
536. 23871932 c.976G>T p.D326Y missense 0.00000825●●●●●●
537. 23871943 c.965C>G p.A322G missense 0.00000826●●●●●●
538. 23871947 c.961G>A p.V321M missense 0.00002477●●●●●●
539. 23871974 c.934G>A p.A312T missense 0.00000829●●●●●●
540. 23871997 c.911T>C p.V304A missense 0.00000835●●●●●●
541. 23872568 c.887C>T p.P296L missense 0.00000824●●●●●●
542. 23872573 c.882G>C p.K294N missense 0.00000824●●●●●●
543. 23872576 c.879C>G p.N293K missense 0.00000824●●●●●●
544. 23872617 c.838G>T p.A280S missense 0.00000824●●●●●●
545. 23872640 c.815C>T p.S272F missense 0.00000824●●●●●●
546. 23872933 c.790A>T p.I264L missense 0.00001041●●●●●●
547. 23872938 c.785C>T p.A262V missense 0.00001038●●●●●●
548. 23872977 c.746T>C p.I249T missense 0.00002200●●●●●●
549. 23872978 c.745A>G p.I249V missense 0.00001103●●●●●●
550. 23873510 c.730C>T p.R244C missense 0.00000824●●●●●●
551. 23873546 c.694G>A p.G232S missense 0.00000824●●●●●●
552. 23873564 c.676C>T p.P226S missense 0.00001647●●●●●●
553. 23873585 c.655G>T p.D219Y missense 0.00000824●●●●●●
554. 23873920 c.642G>T p.K214N missense 0.00000825●●●●●●
555. 23873927 c.635C>T p.A212V missense 0.00002473●●●●●●
556. 23873952 c.610C>T p.R204C missense 0.00000824●●●●●●
557. 23873972 c.590G>A p.S197N missense 0.00000824●●●●●●
558. 23873979 c.583T>C p.F195L missense 0.00000824●●●●●●
559. 23873994 c.568C>T p.R190C missense 0.00001647●●●●●●
560. 23874018 c.544G>A p.A182T missense 0.00000824●●●●●●
561. 23874432 c.502G>A p.D168N missense 0.00000824●●●●●●
562. 23874449 c.485A>G p.Y162C missense 0.00001647●●●●●●
563. 23874453 c.481G>A p.A161T missense 0.00002471●●●●●●
564. 23874488 c.446A>T p.E149V missense 0.00000824●●●●●●
565. 23874507 c.427C>G p.R143G missense 0.00001647●●●●●●
566. 23874507 c.427C>T p.R143W missense 0.00000824●●●●●●
567. 23874510 c.424T>C p.Y142H missense 0.00000824●●●●●●
568. 23874513 c.421G>A p.A141T missense 0.00001647●●●●●●
569. 23874515 c.419C>A p.A140D missense 0.00001647●●●●●●
570. 23874521 c.413T>C p.V138A missense 0.00000824●●●●●●
571. 23874525 c.409G>A p.E137K missense 0.00007414●●●●●●
572. 23874530 c.404A>G p.N135S missense 0.00002471●●●●●●
573. 23874551 c.383A>G p.Y128C missense 0.00000824●●●●●●
574. 23874576 c.358C>G p.L120V missense 0.00000824●●●●●●
575. 23874838 c.343T>C p.Y115H missense 0.00000825●●●●●●
576. 23874842 c.339G>A p.M113I missense 0.00000825●●●●●●
577. 23874853 c.328G>A p.A110T missense 0.00000824●●●●●●
578. 23874868 c.313C>A p.L105I missense 0.00004943●●●●●●
579. 23874877 c.304C>A p.L102I missense 0.00004119●●●●●●
580. 23874889 c.292G>C p.E98Q missense 0.00000824●●●●●●
581. 23874906 c.275T>C p.M92T missense 0.00001647●●●●●●
582. 23874913 c.268A>G p.M90V missense 0.00000824●●●●●●
583. 23874928 c.253G>A p.D85N missense 0.00000824●●●●●●
584. 23874937 c.244C>T p.P82S missense 0.00000824●●●●●●
585. 23874948 c.233A>G p.Q78R missense 0.00001647●●●●●●
586. 23874957 c.224A>G p.Q75R missense 0.00000824●●●●●●
587. 23874969 c.212T>C p.V71A missense 0.00001647●●●●●●
588. 23874970 c.211G>A p.V71M missense 0.00000824●●●●●●
589. 23874978 c.203C>T p.T68M missense 0.00004119●●●●●●
590. 23876243 c.190G>A p.E64K missense 0.00001649●●●●●●
591. 23876258 c.175G>A p.V59I missense 0.00000824●●●●●●
592. 23876272 c.161G>A p.R54Q missense 0.00006591●●●●●●
593. 23876305 c.128A>G p.K43R missense 0.00000824●●●●●●
594. 23876314 c.119C>G p.P40R missense 0.00001647●●●●●●
595. 23876314 c.119C>T p.P40L missense 0.00000824●●●●●●
596. 23876332 c.101G>A p.R34H missense 0.00000824●●●●●●
597. 23876333 c.100C>T p.R34C missense 0.00002471●●●●●●
598. 23876339 c.94G>C p.D32H missense 0.00000824●●●●●●
599. 23876344 c.89C>G p.P30R missense 0.00000824●●●●●●
600. 23876347 c.86G>C p.R29P missense 0.00000824●●●●●●
601. 23876348 c.85C>T p.R29W missense 0.00001648●●●●●●
602. 23876360 c.73G>A p.E25K missense 0.00000824●●●●●●
603. 23876365 c.68G>A p.R23H missense 0.00001648●●●●●●
604. 23876398 c.35C>T p.A12V missense 0.00000824●●●●●●
605. 23872591 c.864C>G p.Y288X nonsense 0.00001647●●●●●●
606. 23856967 c.4525G>T p.E1509X nonsense 0.00000824●●●●●●
607. 23858217 c.4026C>A p.C1342X nonsense 0.00007474●●●●●●
608. 23854154 c.5260G>T p.E1754X nonsense 0.00000824●●●●●●
609. 23857102 c.4390G>T p.E1464X nonsense 0.00001659●●●●●●
610. 23862143 c.3229C>T p.Q1077X nonsense 0.00000824●●●●●●
611. 23856833 c.4555G>T p.Gly1519Ter nonsense 0.00000824●●●●●●
612. 23851639 c.5794A>T p.K1932X nonsense 0.00001647●●●●●●
613. 23851666 c.5767C>T p.R1923X nonsense 0.00000824●●●●●●
614. 23853653 c.5563C>T p.Q1855X nonsense 0.00000826●●●●●●
615. 23853725 c.5491G>T p.E1831X nonsense 0.00000824●●●●●●
616. 23857516 c.4207G>T p.E1403X nonsense 0.00000824●●●●●●
617. 23858196 c.4047C>G p.Y1349X nonsense 0.00000826●●●●●●
618. 23862218 c.3154C>T p.R1052X nonsense 0.00001647●●●●●●
619. 23862562 c.3094C>T p.Q1032X nonsense 0.00001647●●●●●●
620. 23862956 c.2847C>A p.C949X nonsense 0.00000824●●●●●●
621. 23863093 c.2710G>T p.E904X nonsense 0.00000824●●●●●●
622. 23863342 c.2620G>T p.E874X nonsense 0.00000824●●●●●●
623. 23867953 c.1875C>A p.Y625X nonsense 0.00001647●●●●●●
624. 23867997 c.1831C>T p.Q611X nonsense 0.00000824●●●●●●
625. 23868166 c.1662C>A p.Y554X nonsense 0.00000824●●●●●●
626. 23870070 c.1258C>T p.Q420X nonsense 0.00001647●●●●●●
627. 23869464 c.1581+1G>A essential splice site 0.00000824●●●●●●
628. 23874590 c.346-2A>G essential splice site 0.00003298●●●●●●
629. 23858800 c.3859+2T>G essential splice site 0.00000824●●●●●●
630. 23851274 c.5797-2A>G essential splice site 0.00000824●●●●●●
631. 23853649 c.5565+2T>A essential splice site 0.00000826●●●●●●
632. 23854123 c.5289+2T>C essential splice site 0.00000824●●●●●●
633. 23855833 c.4651-1G>A essential splice site 0.00000845●●●●●●
634. 23858266 c.3979-2A>C essential splice site 0.00001129●●●●●●
635. 23858600 c.3978+2T>C essential splice site 0.00000824●●●●●●
636. 23858722 c.3860-2A>C essential splice site 0.00000824●●●●●●
637. 23862874 c.2928+1G>A essential splice site 0.00000824●●●●●●
638. 23865632 c.2293-3_2293-2delCA essential splice site 0.00000842●●●●●●
639. 23865901 c.2292+2T>C essential splice site 0.00000824●●●●●●
640. 23865902 c.2292+1G>A essential splice site 0.00000824●●●●●●
641. 23866290 c.2051-1G>A essential splice site 0.00000824●●●●●●
642. 23871905 c.1002+1G>A essential splice site 0.00000826●●●●●●
643. 0 c.-13-1G>A essential splice site 0.00002476●●●●●●
644. 0 c.-13-1G>C essential splice site 0.00000825●●●●●●
645. 23858667 c.3913delC p.R1305Gfs*123 frameshift 0.00000824●●●●●●
646. 23866452 c.1977delG p.K659Nfs*2 frameshift 0.00000824●●●●●●
647. 23851266 c.5803dupA p.Met1935AsnfsTer4 frameshift 0.00000824●●●●●●
648. 23855254 c.5046dupG p.Leu1683AlafsTer4 frameshift 0.00001649●●●●●●
649. 23855662 c.4821_4822delAC p.Arg1608GlnfsTer18 frameshift 0.00001647●●●●●●
650. 23856995 c.4497dupC p.Phe1500LeufsTer17 frameshift 0.00000824●●●●●●
651. 23858613 c.3967delG p.Glu1323ArgfsTer105 frameshift 0.00000824●●●●●●
652. 23858654 c.3926_3927delCT p.Ser1309LeufsTer32 frameshift 0.00000824●●●●●●
653. 23859430 c.3568_3572delACTGC p.Thr1190ArgfsTer41 frameshift 0.00001106●●●●●●
654. 23859467 c.3531delG p.Arg1178GlyfsTer38 frameshift 0.00001324●●●●●●
655. 23866272 c.2068delC p.Leu690TrpfsTer38 frameshift 0.00002472●●●●●●
656. 23876313 c.120delC p.Asp41MetfsTer29 frameshift 0.00000824●●●●●●
657. 23855627 c.4856_4858delAGA p.Lys1619del inframe 0.00000824●●●●●●
658. 23857018 c.4474_4476delGAG p.Glu1492del inframe 0.00001648●●●●●●
659. 23858097 c.4146_4148delTCA p.Ile1382_Gln1383delinsMet inframe 0.00000824●●●●●●
660. 23874539 c.395_396insTAC p.Pro132_Val133insThr inframe 0.00001648●●●●●●

* 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.