MYH6 variants in ExAC

MYH6 gene summary
MYH6 variants in DCM

The table below lists the MYH6 variants found in the ExAC population database. 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. 23876445 c.-13G>A splice site 0.00000825●●●●●●
2. 23876444 c.-12G>A splice site 0.00000825●●●●●●
3. 23876426 c.7G>A p.D3N missense 0.00001649●●●●●●
4. 23876398 c.35C>T p.A12V missense 0.00000824●●●●●●
5. 23876383 c.50G>A p.R17H missense 0.00000824●●●●●●
6. 23876366 c.67C>T p.R23C missense 0.00010709●●●●●●
7. 23876365 c.68G>A p.R23H missense 0.00001648●●●●●●
8. 23876363 c.70C>A p.L24I missense 0.00070022●●●●●●
9. 23876360 c.73G>A p.E25K missense 0.00000824●●●●●●
10. 23876356 c.77C>G p.A26G missense 0.00005767●●●●●●
11. 23876348 c.85C>T p.R29W missense 0.00001648●●●●●●
12. 23876347 c.86G>A p.R29Q missense 0.00149923●●●●●●
13. 23876347 c.86G>C p.R29P missense 0.00000824●●●●●●
14. 23876344 c.89C>G p.P30R missense 0.00000824●●●●●●
15. 23876340 c.93T>G p.F31L missense 0.00000824●●●●●●
16. 23876339 c.94G>C p.D32H missense 0.00000824●●●●●●
17. 23876333 c.100C>T p.R34C missense 0.00002471●●●●●●
18. 23876332 c.101G>A p.R34H missense 0.00000824●●●●●●
19. 23876318 c.115G>A p.V39M missense 0.00009061●●●●●●
20. 23876314 c.119C>G p.P40R missense 0.00001647●●●●●●
21. 23876314 c.119C>T p.P40L missense 0.00000824●●●●●●
22. 23876313 c.120delC p.Asp41MetfsTer29 frameshift 0.00000824●●●●●●
23. 23876312 c.121G>A p.D41N missense 0.00000824●●●●●●
24. 23876305 c.128A>G p.K43R missense 0.00000824●●●●●●
25. 23876273 c.160C>T p.R54W missense 0.00002471●●●●●●
26. 23876272 c.161G>A p.R54Q missense 0.00006591●●●●●●
27. 23876267 c.166G>A p.G56R missense 0.06979618●●●●●●
28. 23876258 c.175G>C p.V59L missense 0.00001648●●●●●●
29. 23876258 c.175G>A p.V59I missense 0.00000824●●●●●●
30. 23876243 c.190G>A p.E64K missense 0.00001649●●●●●●
31. 23876232 c.201G>A splice site 0.00000825●●●●●●
32. 23874985 c.202-6C>T splice site 0.00000824●●●●●●
33. 23874984 c.202-5T>A splice site 0.00000824●●●●●●
34. 23874978 c.203C>T p.T68M missense 0.00004119●●●●●●
35. 23874977 c.204G>A splice site 0.00001647●●●●●●
36. 23874970 c.211G>A p.V71M missense 0.00000824●●●●●●
37. 23874969 c.212T>C p.V71A missense 0.00001647●●●●●●
38. 23874957 c.224A>G p.Q75R missense 0.00000824●●●●●●
39. 23874948 c.233A>G p.Q78R missense 0.00001647●●●●●●
40. 23874937 c.244C>T p.P82S missense 0.00000824●●●●●●
41. 23874936 c.245C>T p.P82L missense 0.00011531●●●●●●
42. 23874928 c.253G>A p.D85N missense 0.00000824●●●●●●
43. 23874919 c.262G>C p.E88Q missense 0.00000824●●●●●●
44. 23874913 c.268A>G p.M90V missense 0.00000824●●●●●●
45. 23874906 c.275T>C p.M92T missense 0.00001647●●●●●●
46. 23874889 c.292G>A p.E98K missense 0.00023063●●●●●●
47. 23874889 c.292G>C p.E98Q missense 0.00000824●●●●●●
48. 23874877 c.304C>A p.L102I missense 0.00004119●●●●●●
49. 23874868 c.313C>A p.L105I missense 0.00004943●●●●●●
50. 23874853 c.328G>A p.A110T missense 0.00000824●●●●●●
51. 23874852 c.329C>T p.A110V missense 0.00001648●●●●●●
52. 23874842 c.339G>T p.M113I missense 0.00000825●●●●●●
53. 23874842 c.339G>A p.M113I missense 0.00000825●●●●●●
54. 23874838 c.343T>C p.Y115H missense 0.00000825●●●●●●
55. 23874836 c.345T>C splice site 0.00000826●●●●●●
56. 23874590 c.346-2A>G essential splice site 0.00003298●●●●●●
57. 23874576 c.358C>G p.L120V missense 0.00000824●●●●●●
58. 23874551 c.383A>G p.Y128C missense 0.00000824●●●●●●
59. 23874539 c.395_396insTAC p.Pro132_Val133insThr inframe 0.00001648●●●●●●
60. 23874530 c.404A>G p.N135S missense 0.00002471●●●●●●
61. 23874525 c.409G>A p.E137K missense 0.00007414●●●●●●
62. 23874521 c.413T>C p.V138A missense 0.00000824●●●●●●
63. 23874515 c.419C>A p.A140D missense 0.00001647●●●●●●
64. 23874513 c.421G>A p.A141T missense 0.00001647●●●●●●
65. 23874510 c.424T>C p.Y142H missense 0.00000824●●●●●●
66. 23874507 c.427C>G p.R143G missense 0.00001647●●●●●●
67. 23874507 c.427C>T p.R143W missense 0.00000824●●●●●●
68. 23874503 c.431G>T p.G144V missense 0.00009884●●●●●●
69. 23874494 c.440G>A p.R147K missense 0.00000824●●●●●●
70. 23874488 c.446A>T p.E149V missense 0.00000824●●●●●●
71. 23874459 c.475G>A p.D159N missense 0.00004118●●●●●●
72. 23874453 c.481G>A p.A161T missense 0.00002471●●●●●●
73. 23874449 c.485A>G p.Y162C missense 0.00001647●●●●●●
74. 23874432 c.502G>A p.D168N missense 0.00000824●●●●●●
75. 23874427 c.502+5G>A splice site 0.00000824●●●●●●
76. 23874426 c.502+6C>A splice site 0.00000824●●●●●●
77. 23874424 c.502+8T>A splice site 0.00000824●●●●●●
78. 23874303 c.530+6C>T splice site 0.00002472●●●●●●
79. 23874037 c.531-6C>T splice site 0.00002474●●●●●●
80. 23874036 c.531-5C>T splice site 0.00000825●●●●●●
81. 23874018 c.544G>A p.A182T missense 0.00000824●●●●●●
82. 23873994 c.568C>T p.R190C missense 0.00001647●●●●●●
83. 23873979 c.583T>C p.F195L missense 0.00000824●●●●●●
84. 23873972 c.590G>A p.S197N missense 0.00000824●●●●●●
85. 23873952 c.610C>T p.R204C missense 0.00000824●●●●●●
86. 23873951 c.611G>A p.R204H missense 0.00013180●●●●●●
87. 23873940 c.622G>A p.D208N missense 0.00550374●●●●●●
88. 23873937 c.625A>G p.N209D missense 0.00000824●●●●●●
89. 23873927 c.635C>T p.A212V missense 0.00002473●●●●●●
90. 23873920 c.642G>T p.K214N missense 0.00000825●●●●●●
91. 23873917 c.642+3G>C splice site 0.00000825●●●●●●
92. 23873916 c.642+4C>T splice site 0.00002476●●●●●●
93. 23873602 c.643-5C>T splice site 0.00038727●●●●●●
94. 23873600 c.643-3T>C splice site 0.00001648●●●●●●
95. 23873585 c.655G>T p.D219Y missense 0.00000824●●●●●●
96. 23873564 c.676C>T p.P226S missense 0.00001647●●●●●●
97. 23873561 c.679G>A p.A227T missense 0.00002471●●●●●●
98. 23873549 c.691T>C p.F231L missense 0.00001647●●●●●●
99. 23873546 c.694G>A p.G232S missense 0.00000824●●●●●●
100. 23873528 c.712C>T p.R238W missense 0.00002471●●●●●●
101. 23873527 c.713G>A p.R238Q missense 0.00001647●●●●●●
102. 23873522 c.718G>A p.D240N missense 0.00000824●●●●●●
103. 23873510 c.730C>T p.R244C missense 0.00000824●●●●●●
104. 23873509 c.731G>A p.R244H missense 0.00000824●●●●●●
105. 23873506 c.734T>C p.F245S missense 0.00001647●●●●●●
106. 23872995 c.736-8G>A splice site 0.00003557●●●●●●
107. 23872994 c.736-7T>A splice site 0.00001182●●●●●●
108. 23872978 c.745A>G p.I249V missense 0.00001103●●●●●●
109. 23872977 c.746T>C p.I249T missense 0.00002200●●●●●●
110. 23872967 c.756C>G p.H252Q missense 0.00004259●●●●●●
111. 23872938 c.785C>T p.A262V missense 0.00001038●●●●●●
112. 23872933 c.790A>T p.I264L missense 0.00001041●●●●●●
113. 23872666 c.800-11A>G splice site 0.75650833●●●●●●
114. 23872663 c.800-8C>A splice site 0.00000824●●●●●●
115. 23872662 c.800-7A>C splice site 0.00012360●●●●●●
116. 23872660 c.800-5C>T splice site 0.00008240●●●●●●
117. 23872640 c.815C>T p.S272F missense 0.00000824●●●●●●
118. 23872631 c.824T>A p.I275N missense 0.00017299●●●●●●
119. 23872624 c.831G>T p.Q277H missense 0.00042011●●●●●●
120. 23872617 c.838G>T p.A280S missense 0.00000824●●●●●●
121. 23872591 c.864C>G p.Y288X nonsense 0.00001647●●●●●●
122. 23872576 c.879C>G p.N293K missense 0.00000824●●●●●●
123. 23872573 c.882G>C p.K294N missense 0.00000824●●●●●●
124. 23872568 c.887C>T p.P296L missense 0.00000824●●●●●●
125. 23872551 c.898+6C>T splice site 0.00005766●●●●●●
126. 23872551 c.898+6C>A splice site 0.00008237●●●●●●
127. 23872016 c.899-7G>T splice site 0.00001696●●●●●●
128. 23871997 c.911T>C p.V304A missense 0.00000835●●●●●●
129. 23871980 c.928G>A p.D310N missense 0.00000830●●●●●●
130. 23871974 c.934G>A p.A312T missense 0.00000829●●●●●●
131. 23871971 c.937T>G p.F313V missense 0.00000828●●●●●●
132. 23871967 c.941T>C p.V314A missense 0.00002482●●●●●●
133. 23871947 c.961G>A p.V321M missense 0.00002477●●●●●●
134. 23871943 c.965C>G p.A322G missense 0.00000826●●●●●●
135. 23871932 c.976G>A p.D326N missense 0.00002476●●●●●●
136. 23871932 c.976G>T p.D326Y missense 0.00000825●●●●●●
137. 23871926 c.982G>A p.E328K missense 0.00005778●●●●●●
138. 23871914 c.994G>A p.A332T missense 0.00000826●●●●●●
139. 23871908 c.1000G>A p.D334N missense 0.00001652●●●●●●
140. 23871906 c.1002T>A p.D334E missense 0.00001652●●●●●●
141. 23871905 c.1002+1G>A essential splice site 0.00000826●●●●●●
142. 23871900 c.1002+6T>G splice site 0.00000826●●●●●●
143. 23871900 c.1002+6T>C splice site 0.00000826●●●●●●
144. 23871815 c.1003-4C>G splice site 0.00001649●●●●●●
145. 23871807 c.1007C>G p.A336G missense 0.00007421●●●●●●
146. 23871807 c.1007C>A p.A336D missense 0.00001649●●●●●●
147. 23871800 c.1014C>A p.D338E missense 0.00000824●●●●●●
148. 23871799 c.1015G>A p.V339M missense 0.00002473●●●●●●
149. 23871768 c.1046G>A p.G349D missense 0.00000824●●●●●●
150. 23871766 c.1048G>A p.V350I missense 0.00004943●●●●●●
151. 23871753 c.1061C>T p.T354M missense 0.00000824●●●●●●
152. 23871742 c.1072A>G p.M358V missense 0.00001648●●●●●●
153. 23871727 c.1087A>T p.M363L missense 0.00018947●●●●●●
154. 23871726 c.1088T>C p.M363T missense 0.00002471●●●●●●
155. 23871706 c.1108C>T p.R370W missense 0.00003296●●●●●●
156. 23871689 c.1125G>T p.E375D missense 0.00000824●●●●●●
157. 23871685 c.1129G>C p.D377H missense 0.00000824●●●●●●
158. 23871683 c.1131C>G p.D377E missense 0.00071705●●●●●●
159. 23871682 c.1132G>A p.G378S missense 0.00088192●●●●●●
160. 23871675 c.1139A>C p.E380A missense 0.00003298●●●●●●
161. 23871669 c.1141+4G>T splice site 0.00000824●●●●●●
162. 23871667 c.1141+6A>T splice site 0.00000825●●●●●●
163. 23871665 c.1141+8G>T splice site 0.00018137●●●●●●
164. 23870178 c.1150A>G p.K384E missense 0.00000827●●●●●●
165. 23870174 c.1154C>T p.S385L missense 0.00016519●●●●●●
166. 23870172 c.1156G>A p.A386T missense 0.00002477●●●●●●
167. 23870162 c.1166T>C p.M389T missense 0.00001649●●●●●●
168. 23870151 c.1177T>G p.S393A missense 0.00001648●●●●●●
169. 23870143 c.1185C>G p.D395E missense 0.00000824●●●●●●
170. 23870122 c.1206C>A p.H402Q missense 0.00000824●●●●●●
171. 23870085 c.1243G>A p.G415R missense 0.00027181●●●●●●
172. 23870084 c.1244G>C p.G415A missense 0.00006589●●●●●●
173. 23870079 c.1249A>G p.S417G missense 0.00001647●●●●●●
174. 23870076 c.1252G>A p.V418M missense 0.00023062●●●●●●
175. 23870070 c.1258C>T p.Q420X nonsense 0.00001647●●●●●●
176. 23870067 c.1261G>A p.V421M missense 0.00006589●●●●●●
177. 23870052 c.1276G>A p.G426R missense 0.00000824●●●●●●
178. 23870033 c.1295T>C p.V432A missense 0.00000824●●●●●●
179. 23870027 c.1301A>C p.E434A missense 0.00000824●●●●●●
180. 23870021 c.1307T>C p.M436T missense 0.00000824●●●●●●
181. 23870007 c.1321G>A p.V441M missense 0.00000824●●●●●●
182. 23870003 c.1325C>T p.T442M missense 0.00001647●●●●●●
183. 23870001 c.1327C>T p.R443C missense 0.00010708●●●●●●
184. 23870000 c.1328G>A p.R443H missense 0.00008237●●●●●●
185. 23869992 c.1336G>A p.A446T missense 0.00010708●●●●●●
186. 23869981 c.1347G>T p.E449D missense 0.00004942●●●●●●
187. 23869962 c.1366T>G p.Y456D missense 0.00000824●●●●●●
188. 23869956 c.1372A>G p.I458V missense 0.00000824●●●●●●
189. 23869955 c.1373T>C p.I458T missense 0.00001648●●●●●●
190. 23869929 c.1399G>A p.E467K missense 0.00001648●●●●●●
191. 23869920 c.1408G>A p.D470N missense 0.00001649●●●●●●
192. 23869920 c.1408G>T p.D470Y missense 0.00001649●●●●●●
193. 23869919 c.1409A>G p.D470G missense 0.00000824●●●●●●
194. 23869918 c.1410C>T p.D470D splice site 0.00018958●●●●●●
195. 23869635 c.1411T>C p.F471L missense 0.00000828●●●●●●
196. 23869560 c.1486G>A p.V496M missense 0.00007413●●●●●●
197. 23869560 c.1486G>C p.V496L missense 0.00000824●●●●●●
198. 23869554 c.1492G>A p.E498K missense 0.00002471●●●●●●
199. 23869546 c.1500G>C p.E500D missense 0.00000824●●●●●●
200. 23869539 c.1507A>G p.K503E missense 0.00000824●●●●●●
201. 23869531 c.1515G>C p.E505D missense 0.00000824●●●●●●
202. 23869526 c.1520T>C p.I507T missense 0.00000824●●●●●●
203. 23869524 c.1522G>C p.E508Q missense 0.00000824●●●●●●
204. 23869511 c.1535T>C p.I512T missense 0.00001647●●●●●●
205. 23869499 c.1547T>C p.M516T missense 0.00000824●●●●●●
206. 23869484 c.1562G>A p.C521Y missense 0.00000824●●●●●●
207. 23869481 c.1565T>C p.I522T missense 0.00000824●●●●●●
208. 23869468 c.1578G>C p.E526D missense 0.00000824●●●●●●
209. 23869464 c.1581+1G>A essential splice site 0.00000824●●●●●●
210. 23869455 c.1581+10delT splice site 0.00018128●●●●●●
211. 23868253 c.1582-7C>T splice site 0.00003297●●●●●●
212. 23868212 c.1616G>A p.C539Y missense 0.00000824●●●●●●
213. 23868200 c.1628A>G p.K543R missense 0.00004942●●●●●●
214. 23868190 c.1638C>A p.D546E missense 0.00000824●●●●●●
215. 23868189 c.1639A>G p.M547V missense 0.00001647●●●●●●
216. 23868178 c.1650G>C p.K550N missense 0.00000824●●●●●●
217. 23868176 c.1652C>T p.A551V missense 0.00000824●●●●●●
218. 23868166 c.1662C>A p.Y554X nonsense 0.00000824●●●●●●
219. 23868126 c.1702C>T p.R568C missense 0.00002471●●●●●●
220. 23868125 c.1703G>A p.R568H missense 0.00003295●●●●●●
221. 23868101 c.1727C>T p.A576V missense 0.00000824●●●●●●
222. 23868090 c.1738C>A p.L580M missense 0.00000824●●●●●●
223. 23868087 c.1741A>G p.I581V missense 0.00000824●●●●●●
224. 23868078 c.1750G>A p.A584T missense 0.00000824●●●●●●
225. 23868075 c.1753G>A p.G585S missense 0.00015650●●●●●●
226. 23868065 c.1763A>C p.D588A missense 0.00213337●●●●●●
227. 23868065 c.1763A>G p.D588G missense 0.00000824●●●●●●
228. 23868045 c.1783C>G p.L595V missense 0.00000824●●●●●●
229. 23868044 c.1784T>A p.L595Q missense 0.00000824●●●●●●
230. 23868039 c.1789A>G p.K597E missense 0.00000824●●●●●●
231. 23868032 c.1796A>T p.K599M missense 0.00000824●●●●●●
232. 23868029 c.1799A>T p.D600V missense 0.00000824●●●●●●
233. 23868023 c.1805T>C p.L602P missense 0.00000824●●●●●●
234. 23868012 c.1816G>A p.V606I missense 0.00000824●●●●●●
235. 23868011 c.1817T>C p.V606A missense 0.00000824●●●●●●
236. 23868003 c.1825C>A p.L609M missense 0.00000824●●●●●●
237. 23867997 c.1831C>A p.Q611K missense 0.00000824●●●●●●
238. 23867997 c.1831C>T p.Q611X nonsense 0.00000824●●●●●●
239. 23867996 c.1832A>T p.Q611L missense 0.00000824●●●●●●
240. 23867988 c.1840T>G p.S614A missense 0.00000824●●●●●●
241. 23867987 c.1841C>T p.S614F missense 0.00000824●●●●●●
242. 23867974 c.1854G>A p.M618I missense 0.00001647●●●●●●
243. 23867966 c.1862T>A p.L621H missense 0.00002471●●●●●●
244. 23867962 c.1866C>A p.F622L missense 0.00000824●●●●●●
245. 23867960 c.1868C>T p.S623F missense 0.00007413●●●●●●
246. 23867953 c.1875C>A p.Y625X nonsense 0.00001647●●●●●●
247. 23867952 c.1876G>A p.A626T missense 0.00000824●●●●●●
248. 23867943 c.1885G>A p.D629N missense 0.00009885●●●●●●
249. 23867937 c.1891G>A p.G631R missense 0.00000824●●●●●●
250. 23867932 c.1891+5G>A splice site 0.00000824●●●●●●
251. 23866806 c.1908C>A p.S636R missense 0.00000825●●●●●●
252. 23866793 c.1921A>C p.K641Q missense 0.00000825●●●●●●
253. 23866783 c.1931C>T p.S644L missense 0.00001649●●●●●●
254. 23866780 c.1934C>T p.S645F missense 0.00002473●●●●●●
255. 23866768 c.1946T>C p.V649A missense 0.00001649●●●●●●
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323. 23865557 c.2365C>T p.R789C missense 0.00001651●●●●●●
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329. 23865524 c.2398C>T p.R800C missense 0.00002473●●●●●●
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340. 23863498 c.2464G>A p.A822T missense 0.00014849●●●●●●
341. 23863474 c.2488C>T p.P830S missense 0.00000824●●●●●●
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347. 23863395 c.2567A>G p.E856G missense 0.00000824●●●●●●
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349. 23863387 c.2575G>A p.G859R missense 0.00002471●●●●●●
350. 23863387 c.2575G>T p.G859W missense 0.00008237●●●●●●
351. 23863386 c.2576G>C p.G859A missense 0.00000824●●●●●●
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355. 23863371 c.2591C>T p.T864M missense 0.00001647●●●●●●
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358. 23863351 c.2611C>T p.R871C missense 0.00006590●●●●●●
359. 23863348 c.2614C>T p.R872C missense 0.00032125●●●●●●
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361. 23863342 c.2620G>T p.E874X nonsense 0.00000824●●●●●●
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364. 23863304 c.2658G>C p.K886N missense 0.00000824●●●●●●
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377. 23863086 c.2717G>A p.R906H missense 0.00003295●●●●●●
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379. 23863081 c.2722G>A p.D908N missense 0.00003295●●●●●●
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381. 23863065 c.2738A>G p.N913S missense 0.00001647●●●●●●
382. 23863032 c.2771T>C p.M924T missense 0.00001647●●●●●●
383. 23862997 c.2806G>T p.A936S missense 0.00238856●●●●●●
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386. 23862976 c.2827C>T p.R943C missense 0.00004118●●●●●●
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433. 23862181 c.3191C>T p.T1064I missense 0.00001647●●●●●●
434. 23862177 c.3195G>C p.Q1065H missense 0.00023062●●●●●●
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454. 23859652 c.3346C>T p.R1116C missense 0.00004501●●●●●●
455. 23859651 c.3347G>A p.R1116H missense 0.00008985●●●●●●
456. 23859615 c.3383G>A p.R1128H missense 0.00002794●●●●●●
457. 23859610 c.3388G>A p.A1130T missense 0.10033088●●●●●●
458. 23859610 c.3388G>T p.A1130S missense 0.00000945●●●●●●
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460. 23859484 c.3514G>A p.E1172K missense 0.00002561●●●●●●
461. 23859467 c.3531delG p.Arg1178GlyfsTer38 frameshift 0.00001324●●●●●●
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463. 23859430 c.3568_3572delACTGC p.Thr1190ArgfsTer41 frameshift 0.00001106●●●●●●
464. 23859357 c.3641G>A p.R1214Q missense 0.00000829●●●●●●
465. 23858928 c.3733G>A p.A1245T missense 0.00001648●●●●●●
466. 23858912 c.3749T>A p.V1250E missense 0.00000824●●●●●●
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468. 23858903 c.3758C>T p.T1253M missense 0.00004943●●●●●●
469. 23858895 c.3766G>A p.D1256N missense 0.00000824●●●●●●
470. 23858890 c.3771G>T p.Q1257H missense 0.00000824●●●●●●
471. 23858877 c.3784C>T p.R1262C missense 0.00007414●●●●●●
472. 23858874 c.3787G>A p.V1263M missense 0.00004119●●●●●●
473. 23858874 c.3787G>T p.V1263L missense 0.00000824●●●●●●
474. 23858859 c.3802G>T p.A1268S missense 0.00002471●●●●●●
475. 23858859 c.3802G>A p.A1268T missense 0.00000824●●●●●●
476. 23858858 c.3803C>G p.A1268G missense 0.00000824●●●●●●
477. 23858853 c.3808C>T p.R1270C missense 0.00005766●●●●●●
478. 23858852 c.3809G>A p.R1270H missense 0.00000824●●●●●●
479. 23858847 c.3814C>T p.L1272F missense 0.00000824●●●●●●
480. 23858825 c.3836G>A p.R1279Q missense 0.00001647●●●●●●
481. 23858823 c.3838G>A p.A1280T missense 0.00000824●●●●●●
482. 23858808 c.3853G>A p.E1285K missense 0.00003295●●●●●●
483. 23858804 c.3857A>T p.N1286I missense 0.00000824●●●●●●
484. 23858803 c.3858T>G p.N1286K missense 0.00000824●●●●●●
485. 23858803 c.3858T>A p.N1286K missense 0.00000824●●●●●●
486. 23858800 c.3859+2T>G essential splice site 0.00000824●●●●●●
487. 23858795 c.3859+7G>A splice site 0.00002471●●●●●●
488. 23858728 c.3860-8A>G splice site 0.00002471●●●●●●
489. 23858723 c.3860-3C>T splice site 0.00001647●●●●●●
490. 23858722 c.3860-2A>C essential splice site 0.00000824●●●●●●
491. 23858720 c.3860G>A p.G1287E missense 0.00000824●●●●●●
492. 23858713 c.3867G>T p.L1289F missense 0.00011531●●●●●●
493. 23858708 c.3872G>A p.R1291Q missense 0.00004118●●●●●●
494. 23858697 c.3883G>C p.E1295Q missense 0.00324531●●●●●●
495. 23858687 c.3893C>T p.A1298V missense 0.00009061●●●●●●
496. 23858678 c.3902C>T p.S1301L missense 0.00000824●●●●●●
497. 23858667 c.3913delC p.R1305Gfs*123 frameshift 0.00000824●●●●●●
498. 23858667 c.3913C>T p.R1305W missense 0.00000824●●●●●●
499. 23858666 c.3914G>A p.R1305Q missense 0.00004118●●●●●●
500. 23858657 c.3923T>G p.L1308R missense 0.00001647●●●●●●
501. 23858654 c.3926_3927delCT p.Ser1309LeufsTer32 frameshift 0.00000824●●●●●●
502. 23858648 c.3932C>T p.T1311I missense 0.00018120●●●●●●
503. 23858613 c.3967delG p.Glu1323ArgfsTer105 frameshift 0.00000824●●●●●●
504. 23858602 c.3978G>C p.K1326N missense 0.00004119●●●●●●
505. 23858600 c.3978+2T>C essential splice site 0.00000824●●●●●●
506. 23858597 c.3978+5G>C splice site 0.00000824●●●●●●
507. 23858594 c.3978+8C>T splice site 0.00033781●●●●●●
508. 23858275 c.3979-11C>G splice site 0.01217861●●●●●●
509. 23858274 c.3979-10C>G splice site 0.00026021●●●●●●
510. 23858273 c.3979-9C>G splice site 0.01540124●●●●●●
511. 23858273 c.3979-9C>A splice site 0.00193641●●●●●●
512. 23858272 c.3979-8C>T splice site 0.02308161●●●●●●
513. 23858272 c.3979-8C>G splice site 0.00834348●●●●●●
514. 23858272 c.3979-8C>A splice site 0.00036541●●●●●●
515. 23858272 c.3979-8_3979-7insA splice site 0.00006090●●●●●●
516. 23858271 c.3979-7delT splice site 0.00359728●●●●●●
517. 23858271 c.3979-7dupT splice site 0.00169151●●●●●●
518. 23858271 c.3979-7_3979-6insC splice site 0.00031614●●●●●●
519. 23858271 c.3979-7_3979-3delTCCCC splice site 0.00001129●●●●●●
520. 23858271 c.3979-7_3979-4delTCCC splice site 0.00007092●●●●●●
521. 23858271 c.3979-7_3979-6delTC splice site 0.00001126●●●●●●
522. 23858267 c.3979-3C>G splice site 0.00002364●●●●●●
523. 23858266 c.3979-2A>C essential splice site 0.00001129●●●●●●
524. 23858263 c.3980C>T p.A1327V missense 0.00016994●●●●●●
525. 23858255 c.3988G>A p.A1330T missense 0.00013190●●●●●●
526. 23858254 c.3989C>T p.A1330V missense 0.00000873●●●●●●
527. 23858246 c.3997C>A p.H1333N missense 0.00000848●●●●●●
528. 23858245 c.3998A>G p.H1333R missense 0.00000845●●●●●●
529. 23858233 c.4010C>T p.S1337L missense 0.00000838●●●●●●
530. 23858227 c.4016G>A p.R1339Q missense 0.00001669●●●●●●
531. 23858222 c.4021G>T p.D1341Y missense 0.00000833●●●●●●
532. 23858217 c.4026C>A p.C1342X nonsense 0.00007474●●●●●●
533. 23858216 c.4027G>A p.D1343N missense 0.00017438●●●●●●
534. 23858207 c.4036C>T p.R1346W missense 0.00003315●●●●●●
535. 23858198 c.4045T>A p.Y1349N missense 0.00000827●●●●●●
536. 23858198 c.4045T>G p.Y1349D missense 0.00000827●●●●●●
537. 23858196 c.4047C>G p.Y1349X nonsense 0.00000826●●●●●●
538. 23858195 c.4048G>A p.E1350K missense 0.00001652●●●●●●
539. 23858173 c.4070C>T p.A1357V missense 0.00000825●●●●●●
540. 23858162 c.4081C>T p.R1361C missense 0.00001649●●●●●●
541. 23858161 c.4082G>A p.R1361H missense 0.00004123●●●●●●
542. 23858159 c.4084G>A p.V1362I missense 0.00004122●●●●●●
543. 23858150 c.4093A>G p.K1365E missense 0.00000824●●●●●●
544. 23858140 c.4103C>T p.S1368L missense 0.00000824●●●●●●
545. 23858107 c.4136C>T p.T1379M missense 0.00061789●●●●●●
546. 23858107 c.4136C>A p.T1379K missense 0.00001648●●●●●●
547. 23858103 c.4140C>G p.D1380E missense 0.00000824●●●●●●
548. 23858103 c.4140C>A p.D1380E missense 0.00001648●●●●●●
549. 23858102 c.4141G>A p.A1381T missense 0.00003295●●●●●●
550. 23858097 c.4146_4148delTCA p.Ile1382_Gln1383delinsMet inframe 0.00000824●●●●●●
551. 23858093 c.4150C>T p.R1384W missense 0.00000824●●●●●●
552. 23858092 c.4151G>A p.R1384Q missense 0.00001648●●●●●●
553. 23858086 c.4157A>T p.E1386V missense 0.00000824●●●●●●
554. 23857558 c.4176-11C>T splice site 0.00000838●●●●●●
555. 23857557 c.4176-10A>C splice site 0.00000835●●●●●●
556. 23857553 c.4176-6G>T splice site 0.00000833●●●●●●
557. 23857541 c.4182G>C p.K1394N missense 0.00001655●●●●●●
558. 23857531 c.4192C>T p.R1398W missense 0.00003302●●●●●●
559. 23857530 c.4193G>A p.R1398Q missense 0.00038785●●●●●●
560. 23857516 c.4207G>A p.E1403K missense 0.00003296●●●●●●
561. 23857516 c.4207G>T p.E1403X nonsense 0.00000824●●●●●●
562. 23857507 c.4216G>A p.V1406M missense 0.00004943●●●●●●
563. 23857492 c.4231G>A p.A1411T missense 0.00004943●●●●●●
564. 23857468 c.4255A>C p.T1419P missense 0.00000824●●●●●●
565. 23857459 c.4264C>T p.R1422W missense 0.00012355●●●●●●
566. 23857458 c.4265G>A p.R1422Q missense 0.00018945●●●●●●
567. 23857456 c.4267C>A p.L1423I missense 0.00001647●●●●●●
568. 23857437 c.4286A>T p.D1429V missense 0.00001647●●●●●●
569. 23857431 c.4292T>C p.M1431T missense 0.00000824●●●●●●
570. 23857430 c.4293G>A p.M1431I missense 0.00174621●●●●●●
571. 23857429 c.4294G>A p.V1432M missense 0.00000824●●●●●●
572. 23857428 c.4295T>A p.V1432E missense 0.00000824●●●●●●
573. 23857423 c.4300G>A p.V1434I missense 0.00005766●●●●●●
574. 23857417 c.4306C>T p.R1436C missense 0.00003295●●●●●●
575. 23857417 c.4306C>A p.R1436S missense 0.00000824●●●●●●
576. 23857416 c.4307G>A p.R1436H missense 0.00003295●●●●●●
577. 23857410 c.4313A>T p.N1438I missense 0.00000824●●●●●●
578. 23857405 c.4318G>C p.A1440P missense 0.00000824●●●●●●
579. 23857405 c.4318G>T p.A1440S missense 0.00001648●●●●●●
580. 23857398 c.4325C>T p.A1442V missense 0.00001648●●●●●●
581. 23857395 c.4328C>A p.A1443D missense 0.00006590●●●●●●
582. 23857378 c.4345A>G p.R1449G missense 0.00000824●●●●●●
583. 23857377 c.4346G>A p.R1449K missense 0.00001648●●●●●●
584. 23857371 c.4352T>C p.F1451S missense 0.00000824●●●●●●
585. 23857360 c.4359+4G>T splice site 0.00000824●●●●●●
586. 23857355 c.4359+9T>C splice site 0.00005768●●●●●●
587. 23857353 c.4359+11G>A splice site 0.00000824●●●●●●
588. 23857139 c.4360-7C>G splice site 0.00010008●●●●●●
589. 23857139 c.4360-7C>T splice site 0.00345276●●●●●●
590. 23857138 c.4360-6G>A splice site 0.00001667●●●●●●
591. 23857135 c.4360-3C>T splice site 0.00002500●●●●●●
592. 23857131 c.4361T>A p.I1454N missense 0.00001665●●●●●●
593. 23857123 c.4369G>A p.E1457K missense 0.00001663●●●●●●
594. 23857105 c.4387G>A p.E1463K missense 0.00001660●●●●●●
595. 23857102 c.4390G>T p.E1464X nonsense 0.00001659●●●●●●
596. 23857101 c.4391A>C p.E1464A missense 0.00001659●●●●●●
597. 23857098 c.4394C>T p.S1465L missense 0.00000829●●●●●●
598. 23857096 c.4396C>G p.Q1466E missense 0.00000829●●●●●●
599. 23857095 c.4397A>G p.Q1466R missense 0.00000829●●●●●●
600. 23857072 c.4420A>G p.K1474E missense 0.00001654●●●●●●
601. 23857068 c.4424A>G p.E1475G missense 0.00000827●●●●●●
602. 23857065 c.4427C>T p.A1476V missense 0.00000826●●●●●●
603. 23857063 c.4429C>T p.R1477C missense 0.00001652●●●●●●
604. 23857062 c.4430G>A p.R1477H missense 0.00001652●●●●●●
605. 23857051 c.4441A>T p.T1481S missense 0.00000825●●●●●●
606. 23857046 c.4446G>C p.E1482D missense 0.00000825●●●●●●
607. 23857045 c.4447C>T p.L1483F missense 0.00000825●●●●●●
608. 23857037 c.4455G>C p.K1485N missense 0.00001649●●●●●●
609. 23857027 c.4465G>A p.A1489T missense 0.00000824●●●●●●
610. 23857018 c.4474_4476delGAG p.Glu1492del inframe 0.00001648●●●●●●
611. 23856995 c.4497dupC p.Phe1500LeufsTer17 frameshift 0.00000824●●●●●●
612. 23856988 c.4504C>T p.R1502W missense 0.00000824●●●●●●
613. 23856987 c.4505G>A p.R1502Q missense 0.00018124●●●●●●
614. 23856981 c.4511A>G p.N1504S missense 0.00001648●●●●●●
615. 23856974 c.4518C>A p.N1506K missense 0.00000824●●●●●●
616. 23856974 c.4518C>G p.N1506K missense 0.00000824●●●●●●
617. 23856967 c.4525G>T p.E1509X nonsense 0.00000824●●●●●●
618. 23856964 c.4525+3G>A splice site 0.00003295●●●●●●
619. 23856871 c.4526-9G>C splice site 0.00001647●●●●●●
620. 23856869 c.4526-7T>G splice site 0.00000824●●●●●●
621. 23856866 c.4526-4C>T splice site 0.00000824●●●●●●
622. 23856861 c.4527G>A p.E1509E splice site 0.01137524●●●●●●
623. 23856853 c.4535C>T p.S1512L missense 0.00000824●●●●●●
624. 23856833 c.4555G>T p.Gly1519Ter nonsense 0.00000824●●●●●●
625. 23856832 c.4556G>A p.G1519E missense 0.00000824●●●●●●
626. 23856803 c.4585G>A p.E1529K missense 0.00000824●●●●●●
627. 23856799 c.4589A>T p.K1530M missense 0.00000824●●●●●●
628. 23856794 c.4594C>T p.R1532C missense 0.00009886●●●●●●
629. 23856794 c.4594C>G p.R1532G missense 0.00001648●●●●●●
630. 23856793 c.4595G>T p.R1532L missense 0.00021420●●●●●●
631. 23856793 c.4595G>A p.R1532H missense 0.00002471●●●●●●
632. 23856786 c.4602G>C p.Q1534H missense 0.00000824●●●●●●
633. 23856773 c.4615A>C p.K1539Q missense 0.00000824●●●●●●
634. 23856767 c.4621G>C p.E1541Q missense 0.00000824●●●●●●
635. 23856764 c.4624C>A p.L1542M missense 0.00000824●●●●●●
636. 23856761 c.4627C>A p.Q1543K missense 0.00000824●●●●●●
637. 23856732 c.4650+6G>A splice site 0.00000824●●●●●●
638. 23855836 c.4651-4C>A splice site 0.00001696●●●●●●
639. 23855836 c.4651-4C>T splice site 0.00000848●●●●●●
640. 23855835 c.4651-3C>A splice site 0.00017802●●●●●●
641. 23855833 c.4651-1G>A essential splice site 0.00000845●●●●●●
642. 23855818 c.4665C>A p.H1555Q missense 0.00000840●●●●●●
643. 23855817 c.4666G>A p.E1556K missense 0.00008390●●●●●●
644. 23855814 c.4669G>A p.E1557K missense 0.00000838●●●●●●
645. 23855811 c.4672G>A p.G1558S missense 0.00000837●●●●●●
646. 23855807 c.4676A>G p.K1559R missense 0.00000834●●●●●●
647. 23855802 c.4681C>T p.L1561F missense 0.00000833●●●●●●
648. 23855799 c.4684C>T p.R1562W missense 0.00000832●●●●●●
649. 23855798 c.4685G>T p.R1562L missense 0.00000832●●●●●●
650. 23855798 c.4685G>A p.R1562Q missense 0.00000832●●●●●●
651. 23855796 c.4687G>A p.A1563T missense 0.00000831●●●●●●
652. 23855785 c.4698G>C p.E1566D missense 0.00000829●●●●●●
653. 23855783 c.4700T>G p.F1567C missense 0.00000828●●●●●●
654. 23855779 c.4704C>A p.N1568K missense 0.00018189●●●●●●
655. 23855770 c.4713G>T p.K1571N missense 0.00002477●●●●●●
656. 23855762 c.4721T>A p.I1574N missense 0.00000825●●●●●●
657. 23855760 c.4723G>A p.E1575K missense 0.00004124●●●●●●
658. 23855757 c.4726C>T p.R1576W missense 0.00000824●●●●●●
659. 23855756 c.4727G>A p.R1576Q missense 0.00003298●●●●●●
660. 23855740 c.4743G>T p.K1581N missense 0.00000824●●●●●●
661. 23855736 c.4747G>A p.E1583K missense 0.00005767●●●●●●
662. 23855720 c.4763C>A p.A1588D missense 0.00000824●●●●●●
663. 23855715 c.4768C>A p.R1590S missense 0.00000824●●●●●●
664. 23855715 c.4768C>T p.R1590C missense 0.00000824●●●●●●
665. 23855714 c.4769G>A p.R1590H missense 0.00002471●●●●●●
666. 23855711 c.4772A>G p.N1591S missense 0.00007413●●●●●●
667. 23855702 c.4781G>A p.R1594Q missense 0.00001647●●●●●●
668. 23855691 c.4792T>C p.S1598P missense 0.00000824●●●●●●
669. 23855690 c.4793C>T p.S1598L missense 0.00002471●●●●●●
670. 23855685 c.4798C>A p.Q1600K missense 0.00003295●●●●●●
671. 23855662 c.4821_4822delAC p.Arg1608GlnfsTer18 frameshift 0.00001647●●●●●●
672. 23855661 c.4822C>T p.R1608C missense 0.00005766●●●●●●
673. 23855661 c.4822C>G p.R1608G missense 0.00000824●●●●●●
674. 23855660 c.4823G>A p.R1608H missense 0.00000824●●●●●●
675. 23855655 c.4828C>T p.R1610C missense 0.00004118●●●●●●
676. 23855654 c.4829G>A p.R1610H missense 0.00003295●●●●●●
677. 23855647 c.4836G>C p.E1612D missense 0.00000824●●●●●●
678. 23855637 c.4846G>A p.V1616M missense 0.00000824●●●●●●
679. 23855633 c.4850A>C p.K1617T missense 0.00000824●●●●●●
680. 23855629 c.4854G>T p.K1618N missense 0.00000824●●●●●●
681. 23855629 c.4854G>C p.K1618N missense 0.00001647●●●●●●
682. 23855627 c.4856_4858delAGA p.Lys1619del inframe 0.00000824●●●●●●
683. 23855612 c.4871T>C p.L1624P missense 0.00000824●●●●●●
684. 23855609 c.4874A>G p.N1625S missense 0.00002471●●●●●●
685. 23855583 c.4900G>A p.A1634T missense 0.00002471●●●●●●
686. 23855577 c.4906C>T p.R1636C missense 0.00042010●●●●●●
687. 23855576 c.4907G>A p.R1636H missense 0.00000824●●●●●●
688. 23855568 c.4915G>A p.A1639T missense 0.00001648●●●●●●
689. 23855565 c.4918G>A p.E1640K missense 0.00000824●●●●●●
690. 23855534 c.4949G>A p.S1650N missense 0.00000824●●●●●●
691. 23855349 c.4960-9G>A splice site 0.00164520●●●●●●
692. 23855346 c.4960-6G>C splice site 0.00000826●●●●●●
693. 23855340 c.4960G>A p.D1654N missense 0.00000826●●●●●●
694. 23855331 c.4969A>G p.I1657V missense 0.00004125●●●●●●
695. 23855319 c.4981G>A p.D1661N missense 0.00000825●●●●●●
696. 23855315 c.4985C>T p.A1662V missense 0.00001649●●●●●●
697. 23855310 c.4990C>T p.R1664C missense 0.00002473●●●●●●
698. 23855309 c.4991G>A p.R1664H missense 0.00000824●●●●●●
699. 23855301 c.4999G>A p.D1667N missense 0.00004946●●●●●●
700. 23855298 c.5002G>A p.D1668N missense 0.00002473●●●●●●
701. 23855286 c.5014A>T p.N1672Y missense 0.00000824●●●●●●
702. 23855280 c.5020G>A p.A1674T missense 0.00014834●●●●●●
703. 23855277 c.5023A>G p.I1675V missense 0.00001648●●●●●●
704. 23855274 c.5026G>A p.V1676M missense 0.00001648●●●●●●
705. 23855268 c.5032C>T p.R1678W missense 0.00002472●●●●●●
706. 23855267 c.5033G>A p.R1678Q missense 0.00002472●●●●●●
707. 23855264 c.5036G>A p.R1679H missense 0.00001648●●●●●●
708. 23855261 c.5039A>T p.N1680I missense 0.00000824●●●●●●
709. 23855254 c.5046dupG p.Leu1683AlafsTer4 frameshift 0.00001649●●●●●●
710. 23855229 c.5071C>T p.R1691C missense 0.00000824●●●●●●
711. 23855223 c.5077G>A p.V1693M missense 0.00012365●●●●●●
712. 23855205 c.5095C>T p.R1699W missense 0.00005771●●●●●●
713. 23855204 c.5096G>A p.R1699Q missense 0.00001649●●●●●●
714. 23855201 c.5099C>A p.S1700Y missense 0.00000825●●●●●●
715. 23855199 c.5101C>T p.R1701W missense 0.00004948●●●●●●
716. 23855198 c.5102G>A p.R1701Q missense 0.00002474●●●●●●
717. 23855189 c.5111C>T p.A1704V missense 0.00000825●●●●●●
718. 23855174 c.5126T>C p.I1709T missense 0.00000825●●●●●●
719. 23855165 c.5135G>T p.S1712I missense 0.00001651●●●●●●
720. 23855163 c.5137G>A p.E1713K missense 0.00003304●●●●●●
721. 23855160 c.5140C>T p.R1714W missense 0.00000826●●●●●●
722. 23855159 c.5141G>A p.R1714Q missense 0.00002480●●●●●●
723. 23855153 c.5147A>G p.Q1716R missense 0.00000827●●●●●●
724. 23855144 c.5156A>G p.H1719R missense 0.00000828●●●●●●
725. 23855133 c.5163+4A>C splice site 0.00000830●●●●●●
726. 23854257 c.5164-7T>C splice site 0.00000824●●●●●●
727. 23854254 c.5164-4C>G splice site 0.00000824●●●●●●
728. 23854231 c.5183A>G p.Q1728R missense 0.00000824●●●●●●
729. 23854225 c.5189A>G p.K1730R missense 0.00000824●●●●●●
730. 23854222 c.5192A>T p.K1731M missense 0.00000824●●●●●●
731. 23854222 c.5192A>C p.K1731T missense 0.00000824●●●●●●
732. 23854213 c.5201C>T p.S1734L missense 0.00014826●●●●●●
733. 23854211 c.5203G>A p.D1735N missense 0.00000824●●●●●●
734. 23854158 c.5256C>G p.N1752K missense 0.00000824●●●●●●
735. 23854157 c.5257G>C p.A1753P missense 0.00000824●●●●●●
736. 23854154 c.5260G>T p.E1754X nonsense 0.00000824●●●●●●
737. 23854154 c.5260G>C p.E1754Q missense 0.00000824●●●●●●
738. 23854154 c.5260G>A p.E1754K missense 0.00002471●●●●●●
739. 23854147 c.5267A>G p.K1756R missense 0.00000824●●●●●●
740. 23854136 c.5278G>A p.A1760T missense 0.00003295●●●●●●
741. 23854123 c.5289+2T>C essential splice site 0.00000824●●●●●●
742. 23853930 c.5290-4A>G splice site 0.00001649●●●●●●
743. 23853924 c.5292C>T splice site 0.00007421●●●●●●
744. 23853923 c.5293G>A p.A1765T missense 0.00008245●●●●●●
745. 23853919 c.5297T>C p.M1766T missense 0.00000824●●●●●●
746. 23853898 c.5318A>T p.K1773M missense 0.00001648●●●●●●
747. 23853895 c.5321A>G p.E1774G missense 0.00000824●●●●●●
748. 23853881 c.5335G>T p.A1779S missense 0.00000824●●●●●●
749. 23853880 c.5336C>A p.A1779D missense 0.00003295●●●●●●
750. 23853875 c.5341C>A p.L1781M missense 0.00000824●●●●●●
751. 23853872 c.5344G>C p.E1782Q missense 0.00000824●●●●●●
752. 23853868 c.5348G>A p.R1783H missense 0.00005766●●●●●●
753. 23853866 c.5350A>G p.M1784V missense 0.00001647●●●●●●
754. 23853865 c.5351T>A p.M1784K missense 0.00000824●●●●●●
755. 23853841 c.5375T>C p.I1792T missense 0.00000824●●●●●●
756. 23853827 c.5389C>G p.H1797D missense 0.00000824●●●●●●
757. 23853824 c.5392C>T p.R1798W missense 0.00000824●●●●●●
758. 23853823 c.5393G>A p.R1798Q missense 0.00000824●●●●●●
759. 23853815 c.5401G>A p.E1801K missense 0.00000824●●●●●●
760. 23853812 c.5404G>A p.A1802T missense 0.00000824●●●●●●
761. 23853809 c.5407G>C p.E1803Q missense 0.00000824●●●●●●
762. 23853806 c.5410C>A p.Q1804K missense 0.00037891●●●●●●
763. 23853800 c.5416G>A p.A1806T missense 0.00002471●●●●●●
764. 23853788 c.5428G>A p.G1810S missense 0.00000824●●●●●●
765. 23853762 c.5454A>T p.E1818D missense 0.00000824●●●●●●
766. 23853758 c.5458C>T p.R1820W missense 0.00006590●●●●●●
767. 23853757 c.5459G>A p.R1820Q missense 0.00008238●●●●●●
768. 23853752 c.5464C>G p.R1822G missense 0.00000824●●●●●●
769. 23853742 c.5474A>T p.E1825V missense 0.00000824●●●●●●
770. 23853741 c.5475G>C p.E1825D missense 0.00001648●●●●●●
771. 23853735 c.5481G>C p.E1827D missense 0.00000824●●●●●●
772. 23853731 c.5485G>C p.E1829Q missense 0.00004945●●●●●●
773. 23853725 c.5491G>A p.E1831K missense 0.00018132●●●●●●
774. 23853725 c.5491G>T p.E1831X nonsense 0.00000824●●●●●●
775. 23853715 c.5501G>A p.R1834H missense 0.00003297●●●●●●
776. 23853710 c.5506G>A p.A1836T missense 0.00003297●●●●●●
777. 23853703 c.5513C>T p.S1838L missense 0.00004122●●●●●●
778. 23853701 c.5515G>T p.V1839L missense 0.00000824●●●●●●
779. 23853697 c.5519A>G p.K1840R missense 0.00008245●●●●●●
780. 23853695 c.5521G>A p.G1841S missense 0.00000824●●●●●●
781. 23853694 c.5522G>A p.G1841D missense 0.00000824●●●●●●
782. 23853692 c.5524A>G p.M1842V missense 0.00000824●●●●●●
783. 23853682 c.5534G>T p.S1845I missense 0.00000825●●●●●●
784. 23853676 c.5540G>A p.R1847Q missense 0.00006599●●●●●●
785. 23853674 c.5542C>T p.R1848C missense 0.00001650●●●●●●
786. 23853656 c.5560T>C p.Y1854H missense 0.00000826●●●●●●
787. 23853653 c.5563C>T p.Q1855X nonsense 0.00000826●●●●●●
788. 23853649 c.5565+2T>A essential splice site 0.00000826●●●●●●
789. 23853647 c.5565+4C>T splice site 0.00000826●●●●●●
790. 23853646 c.5565+5G>C splice site 0.00000826●●●●●●
791. 23853646 c.5565+5G>T splice site 0.00000826●●●●●●
792. 23853644 c.5565+7C>T splice site 0.00000826●●●●●●
793. 23853643 c.5565+8_5565+9insTT splice site 0.00002478●●●●●●
794. 23853643 c.5565+8G>A splice site 0.00002478●●●●●●
795. 23853641 c.5565+10A>G splice site 0.00000826●●●●●●
796. 23852535 c.5566-6C>T splice site 0.00002653●●●●●●
797. 23852509 c.5586C>G p.N1862K missense 0.00000828●●●●●●
798. 23852502 c.5593C>T p.R1865W missense 0.00002475●●●●●●
799. 23852501 c.5594G>A p.R1865Q missense 0.00005774●●●●●●
800. 23852489 c.5606T>C p.L1869P missense 0.00000824●●●●●●
801. 23852468 c.5627A>G p.K1876R missense 0.00008241●●●●●●
802. 23852453 c.5642A>G p.K1881R missense 0.00004120●●●●●●
803. 23852451 c.5644C>T p.R1882C missense 0.00001648●●●●●●
804. 23852450 c.5645G>A p.R1882H missense 0.00012360●●●●●●
805. 23852450 c.5645G>T p.R1882L missense 0.00000824●●●●●●
806. 23852442 c.5653G>A p.E1885K missense 0.00001648●●●●●●
807. 23852439 c.5656G>A p.E1886K missense 0.00002472●●●●●●
808. 23852435 c.5660C>T p.A1887V missense 0.00001648●●●●●●
809. 23852434 c.5661G>A splice site 0.00002473●●●●●●
810. 23852431 c.5661+3G>A splice site 0.00000824●●●●●●
811. 23852429 c.5661+5G>C splice site 0.00000824●●●●●●
812. 23852425 c.5661+9A>G splice site 0.00005770●●●●●●
813. 23851777 c.5662-6C>T splice site 0.00003295●●●●●●
814. 23851777 c.5662-6C>A splice site 0.00000824●●●●●●
815. 23851770 c.5663A>C p.E1888A missense 0.00000824●●●●●●
816. 23851768 c.5665G>A p.E1889K missense 0.00000824●●●●●●
817. 23851743 c.5690A>G p.K1897R missense 0.00004118●●●●●●
818. 23851741 c.5692T>C p.F1898L missense 0.00009060●●●●●●
819. 23851739 c.5694C>G p.F1898L missense 0.00003295●●●●●●
820. 23851738 c.5695C>T p.R1899C missense 0.00003295●●●●●●
821. 23851727 c.5706G>T p.Q1902H missense 0.00002471●●●●●●
822. 23851726 c.5707C>A p.H1903N missense 0.00000824●●●●●●
823. 23851702 c.5731C>T p.R1911W missense 0.00002471●●●●●●
824. 23851698 c.5735C>T p.A1912V missense 0.00001647●●●●●●
825. 23851690 c.5743G>A p.A1915T missense 0.00000824●●●●●●
826. 23851680 c.5753A>T p.Q1918L missense 0.00000824●●●●●●
827. 23851666 c.5767C>T p.R1923X nonsense 0.00000824●●●●●●
828. 23851665 c.5768G>A p.R1923Q missense 0.00000824●●●●●●
829. 23851653 c.5780G>T p.R1927L missense 0.00000824●●●●●●
830. 23851653 c.5780G>A p.R1927H missense 0.00001647●●●●●●
831. 23851645 c.5788G>C p.G1930R missense 0.00000824●●●●●●
832. 23851644 c.5789G>A p.G1930D missense 0.00000824●●●●●●
833. 23851639 c.5794A>T p.K1932X nonsense 0.00001647●●●●●●
834. 23851637 c.5796G>A splice site 0.00001647●●●●●●
835. 23851633 c.5796+4G>A splice site 0.00000824●●●●●●
836. 23851629 c.5796+8C>G splice site 0.00000824●●●●●●
837. 23851274 c.5797-2A>G essential splice site 0.00000824●●●●●●
838. 23851266 c.5803dupA p.Met1935AsnfsTer4 frameshift 0.00000824●●●●●●
839. 23851264 c.5805G>T p.M1935I missense 0.00001647●●●●●●
840. 0 c.-13-1G>A essential splice site 0.00002476●●●●●●
841. 0 c.-13-1G>C essential splice site 0.00000825●●●●●●
842. 0 c.-13-7G>T splice site 0.00000826●●●●●●

* 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.