TTN variants in ExAC

TTN gene summary
TTN variants in

The table below lists the TTN 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. 179669357 c.13G>A p.A5T missense 0.00015965●●●●●●
2. 179669351 c.19A>G p.T7A missense 0.00000838●●●●●●
3. 179669350 c.20C>T p.T7M missense 0.00000838●●●●●●
4. 179669350 c.20C>A p.T7K missense 0.00000838●●●●●●
5. 179669344 c.26C>T p.T9M missense 0.00004188●●●●●●
6. 179669338 c.32C>T p.P11L missense 0.00000836●●●●●●
7. 179669329 c.41G>T p.S14I missense 0.00000836●●●●●●
8. 179669327 c.43G>A p.V15I missense 0.00015050●●●●●●
9. 179669324 c.46G>A p.V16M missense 0.00000836●●●●●●
10. 179669317 c.53T>G p.L18R missense 0.00000836●●●●●●
11. 179669313 c.57G>C p.E19D missense 0.00000837●●●●●●
12. 179669303 c.67G>A p.A23T missense 0.00000840●●●●●●
13. 179669300 c.70A>C p.T24P missense 0.00001683●●●●●●
14. 179669299 c.71C>A p.T24N missense 0.00000842●●●●●●
15. 179669299 c.71C>G p.T24S missense 0.00000842●●●●●●
16. 179669290 c.80C>T p.A27V missense 0.00000847●●●●●●
17. 179669288 c.82C>G p.H28D missense 0.00000848●●●●●●
18. 179669281 c.89G>A p.S30N missense 0.00000852●●●●●●
19. 179669272 c.91+7T>C splice site 0.00003443●●●●●●
20. 179667057 c.103C>G p.P35A missense 0.00002555●●●●●●
21. 179667056 c.104C>T p.P35L missense 0.00001701●●●●●●
22. 179667036 c.124G>A p.D42N missense 0.00000830●●●●●●
23. 179667027 c.133G>C p.V45L missense 0.00003310●●●●●●
24. 179667015 c.145T>C p.S49P missense 0.00001650●●●●●●
25. 179667014 c.146C>T p.S49F missense 0.00000825●●●●●●
26. 179667005 c.155C>G p.P52R missense 0.00000825●●●●●●
27. 179667003 c.157G>A p.G53S missense 0.00004947●●●●●●
28. 179667000 c.160G>A p.V54M missense 0.00004947●●●●●●
29. 179666983 c.177C>A p.S59R missense 0.00005768●●●●●●
30. 179666982 c.178G>T p.D60Y missense 0.01389370●●●●●●
31. 179666982 c.178G>A p.D60N missense 0.00000824●●●●●●
32. 179666981 c.179A>T p.D60V missense 0.00000824●●●●●●
33. 179666976 c.184C>T p.R62C missense 0.00001648●●●●●●
34. 179666975 c.185G>A p.R62H missense 0.00012360●●●●●●
35. 179666973 c.187G>A p.A63T missense 0.00004120●●●●●●
36. 179666972 c.188C>T p.A63V missense 0.00000824●●●●●●
37. 179666963 c.197C>T p.T66M missense 0.00005767●●●●●●
38. 179666952 c.208G>A p.V70M missense 0.00004119●●●●●●
39. 179666939 c.221A>G p.N74S missense 0.00000824●●●●●●
40. 179666934 c.226G>A p.G76R missense 0.00000824●●●●●●
41. 179666933 c.227G>C p.G76A missense 0.00013180●●●●●●
42. 179666930 c.230G>A p.R77Q missense 0.00001648●●●●●●
43. 179666925 c.235T>A p.S79T missense 0.00000824●●●●●●
44. 179666908 c.252T>A p.N84K missense 0.00000824●●●●●●
45. 179666906 c.254G>A p.G85E missense 0.00000824●●●●●●
46. 179666903 c.257C>A p.S86Y missense 0.00000824●●●●●●
47. 179666901 c.259G>C p.G87R missense 0.00001648●●●●●●
48. 179666901 c.259G>A p.G87R missense 0.00000824●●●●●●
49. 179666894 c.266C>G p.A89G missense 0.00016475●●●●●●
50. 179666894 c.266C>T p.A89V missense 0.00001648●●●●●●
51. 179666886 c.274A>T p.T92S missense 0.00000824●●●●●●
52. 179666886 c.274dupA p.Thr92AsnfsTer3 frameshift 0.00000824●●●●●●
53. 179666877 c.283C>T p.L95F missense 0.00000824●●●●●●
54. 179666871 c.289G>A p.V97M missense 0.00208433●●●●●●
55. 179666860 c.295+5G>A splice site 0.00001648●●●●●●
56. 179665414 c.296-5C>T splice site 0.00003434●●●●●●
57. 179665413 c.296-4G>A splice site 0.00000858●●●●●●
58. 179665404 c.301A>G p.T101A missense 0.00000854●●●●●●
59. 179665395 c.310C>T p.P104S missense 0.00000851●●●●●●
60. 179665392 c.313A>C p.N105H missense 0.00000850●●●●●●
61. 179665386 c.319G>A p.V107I missense 0.00001697●●●●●●
62. 179665380 c.325C>T p.R109X nonsense 0.00000847●●●●●●
63. 179665379 c.326G>A p.R109Q missense 0.00000847●●●●●●
64. 179665364 c.341C>A p.T114N missense 0.00000841●●●●●●
65. 179665362 c.343G>A p.V115M missense 0.00003365●●●●●●
66. 179665358 c.347G>C p.R116T missense 0.00000840●●●●●●
67. 179665346 c.359A>G p.Q120R missense 0.00000835●●●●●●
68. 179665332 c.373G>T p.V125L missense 0.00000832●●●●●●
69. 179665326 c.379G>A p.V127M missense 0.00000830●●●●●●
70. 179665322 c.383C>A p.T128N missense 0.00000829●●●●●●
71. 179665322 c.383C>G p.T128S missense 0.00000829●●●●●●
72. 179665313 c.392C>T p.P131L missense 0.00000827●●●●●●
73. 179665304 c.401T>G p.V134G missense 0.00000826●●●●●●
74. 179665290 c.415C>T p.R139W missense 0.00006599●●●●●●
75. 179665289 c.416G>A p.R139Q missense 0.00004124●●●●●●
76. 179665284 c.421G>A p.G141R missense 0.00000825●●●●●●
77. 179665283 c.422G>A p.G141E missense 0.00002473●●●●●●
78. 179665281 c.424G>A p.A142T missense 0.00001649●●●●●●
79. 179665278 c.427G>A p.E143K missense 0.00004945●●●●●●
80. 179665229 c.476A>G p.Y159C missense 0.00001648●●●●●●
81. 179665221 c.484C>G p.L162V missense 0.00000824●●●●●●
82. 179665220 c.485T>A p.L162Q missense 0.00004119●●●●●●
83. 179665166 c.539A>G p.N180S missense 0.00003296●●●●●●
84. 179665163 c.542G>A p.S181N missense 0.00553010●●●●●●
85. 179665161 c.544G>A p.V182I missense 0.00001648●●●●●●
86. 179665160 c.545T>C p.V182A missense 0.00001648●●●●●●
87. 179665158 c.547G>A p.G183R missense 0.00003297●●●●●●
88. 179665145 c.560C>T p.S187L missense 0.00000824●●●●●●
89. 179665135 c.570A>T p.E190D missense 0.00001649●●●●●●
90. 179665122 c.583G>A p.G195S missense 0.00000825●●●●●●
91. 179665118 c.583+4C>T splice site 0.00001650●●●●●●
92. 179664638 c.584-1G>T essential splice site 0.00000829●●●●●●
93. 179664628 c.593_595delAAG p.E198_V199delinsV inframe 0.00014894●●●●●●
94. 179664610 c.611C>T p.T204I missense 0.00001653●●●●●●
95. 179664608 c.613A>G p.K205E missense 0.00000826●●●●●●
96. 179664604 c.617C>A p.T206K missense 0.00000826●●●●●●
97. 179664602 c.619A>G p.I207V missense 0.00001653●●●●●●
98. 179664595 c.626C>T p.S209L missense 0.00000826●●●●●●
99. 179664593 c.628A>G p.T210A missense 0.00003305●●●●●●
100. 179664577 c.644A>G p.E215G missense 0.00000826●●●●●●
101. 179664563 c.658C>T p.R220X nonsense 0.00000826●●●●●●
102. 179664559 c.662T>C p.I221T missense 0.00003303●●●●●●
103. 179664553 c.668A>C p.K223T missense 0.00000826●●●●●●
104. 179664552 c.669G>A splice site 0.00001652●●●●●●
105. 179664549 c.669+3A>G splice site 0.00002477●●●●●●
106. 179664546 c.669+6T>C splice site 0.00000826●●●●●●
107. 179664544 c.669+8T>C splice site 0.00000826●●●●●●
108. 179664461 c.670-3C>T splice site 0.00000824●●●●●●
109. 179664454 c.674T>C p.I225T missense 0.00000824●●●●●●
110. 179664442 c.686T>C p.F229S missense 0.00000824●●●●●●
111. 179664437 c.691G>A p.A231T missense 0.00016482●●●●●●
112. 179664422 c.706A>G p.T236A missense 0.00000824●●●●●●
113. 179664419 c.709G>A p.V237I missense 0.00000824●●●●●●
114. 179664407 c.721A>G p.I241V missense 0.00000824●●●●●●
115. 179664403 c.725A>G p.D242G missense 0.00005767●●●●●●
116. 179664401 c.727G>A p.G243S missense 0.00000824●●●●●●
117. 179664395 c.733G>T p.A245S missense 0.00003296●●●●●●
118. 179664386 c.742C>A p.Q248K missense 0.00000824●●●●●●
119. 179664377 c.751C>A p.H251N missense 0.00000824●●●●●●
120. 179664376 c.752A>G p.H251R missense 0.00003295●●●●●●
121. 179664373 c.755A>G p.K252R missense 0.00001648●●●●●●
122. 179664352 c.776C>T p.P259L missense 0.00000824●●●●●●
123. 179664340 c.788C>A p.S263X nonsense 0.00000824●●●●●●
124. 179664325 c.803C>T p.P268L missense 0.00000824●●●●●●
125. 179664322 c.806C>T p.P269L missense 0.00000824●●●●●●
126. 179664316 c.812T>C p.I271T missense 0.00000824●●●●●●
127. 179664310 c.818C>T p.A273V missense 0.00000824●●●●●●
128. 179664293 c.835C>T p.R279W missense 0.00013184●●●●●●
129. 179664292 c.836G>A p.R279Q missense 0.00001648●●●●●●
130. 179664281 c.847C>G p.P283A missense 0.00000824●●●●●●
131. 179664280 c.848C>T p.P283L missense 0.00000824●●●●●●
132. 179664277 c.851C>T p.S284L missense 0.00005768●●●●●●
133. 179664260 c.868C>T p.P290S missense 0.00003296●●●●●●
134. 179664259 c.869C>T p.P290L missense 0.00000824●●●●●●
135. 179664259 c.869C>A p.P290H missense 0.00000824●●●●●●
136. 179664256 c.872C>G p.S291C missense 0.00000824●●●●●●
137. 179664253 c.875C>T p.P292L missense 0.00000824●●●●●●
138. 179664251 c.877G>A p.V293I missense 0.00000824●●●●●●
139. 179664243 c.885C>A p.H295Q missense 0.00000824●●●●●●
140. 179664238 c.890G>A p.R297Q missense 0.00000824●●●●●●
141. 179664232 c.896C>T p.P299L missense 0.00000824●●●●●●
142. 179664229 c.899C>A p.T300N missense 0.00004122●●●●●●
143. 179664220 c.908C>T p.P303L missense 0.00001649●●●●●●
144. 179664218 c.910G>A p.V304I missense 0.00000825●●●●●●
145. 179664206 c.914+8T>C splice site 0.00002474●●●●●●
146. 179659983 c.915-4dupT splice site 0.00003308●●●●●●
147. 179659980 c.915-1G>A essential splice site 0.00000827●●●●●●
148. 179659979 c.915G>A splice site 0.00001653●●●●●●
149. 179659975 c.919G>A p.V307M missense 0.00003305●●●●●●
150. 179659972 c.922T>C p.S308P missense 0.00000826●●●●●●
151. 179659953 c.941C>T p.S314F missense 0.00000825●●●●●●
152. 179659942 c.952A>G p.I318V missense 0.00000825●●●●●●
153. 179659938 c.956G>C p.R319T missense 0.00000824●●●●●●
154. 179659928 c.966G>T p.R322S missense 0.00004121●●●●●●
155. 179659924 c.970C>T p.P324S missense 0.00070869●●●●●●
156. 179659920 c.974T>C p.L325S missense 0.00002472●●●●●●
157. 179659912 c.982C>T p.R328C missense 0.12379053●●●●●●
158. 179659911 c.983G>A p.R328H missense 0.00000824●●●●●●
159. 179659905 c.989C>T p.T330I missense 0.00000824●●●●●●
160. 179659897 c.997T>G p.S333A missense 0.00000824●●●●●●
161. 179659891 c.1003G>A p.V335M missense 0.00391378●●●●●●
162. 179659888 c.1006G>C p.A336P missense 0.00000824●●●●●●
163. 179659863 c.1031C>G p.P344R missense 0.00000824●●●●●●
164. 179659845 c.1049A>G p.Y350C missense 0.00000824●●●●●●
165. 179659843 c.1051G>A p.V351M missense 0.00001648●●●●●●
166. 179659831 c.1063T>A p.S355T missense 0.00000824●●●●●●
167. 179659828 c.1066G>C p.E356Q missense 0.00011537●●●●●●
168. 179659815 c.1079G>C p.R360T missense 0.00619695●●●●●●
169. 179659806 c.1088C>T p.T363M missense 0.00004944●●●●●●
170. 179659798 c.1096A>G p.T366A missense 0.00000824●●●●●●
171. 179659797 c.1097C>A p.T366N missense 0.00002472●●●●●●
172. 179659795 c.1099T>C p.S367P missense 0.00002472●●●●●●
173. 179659753 c.1141G>A p.G381S missense 0.00006599●●●●●●
174. 179659752 c.1142G>A p.G381D missense 0.00000825●●●●●●
175. 179659746 c.1148A>T p.Q383L missense 0.00001651●●●●●●
176. 179659746 c.1148A>C p.Q383P missense 0.00003301●●●●●●
177. 179659737 c.1157T>G p.V386G missense 0.00000826●●●●●●
178. 179659725 c.1169G>A p.G390D missense 0.00000826●●●●●●
179. 179659719 c.1175C>T p.A392V missense 0.00001654●●●●●●
180. 179659708 c.1186G>T p.A396S missense 0.00014895●●●●●●
181. 179659708 c.1186G>A p.A396T missense 0.00000827●●●●●●
182. 179659698 c.1196C>G p.S399W missense 0.00000828●●●●●●
183. 179659693 c.1201A>G p.S401G missense 0.00000829●●●●●●
184. 179659691 c.1203T>A p.S401R missense 0.00000829●●●●●●
185. 179659683 c.1211A>G p.Y404C missense 0.00000830●●●●●●
186. 179659681 c.1213G>A p.A405T missense 0.00042334●●●●●●
187. 179659678 c.1216G>C p.A406P missense 0.00000830●●●●●●
188. 179659666 c.1228G>C p.A410P missense 0.00000832●●●●●●
189. 179659659 c.1235G>A p.G412D missense 0.00000834●●●●●●
190. 179659646 c.1245+3A>G splice site 0.00001672●●●●●●
191. 179659643 c.1245+6G>A splice site 0.00001674●●●●●●
192. 179659268 c.1256A>C p.D419A missense 0.00000824●●●●●●
193. 179659266 c.1258G>A p.A420T missense 0.00000824●●●●●●
194. 179659257 c.1267A>C p.S423R missense 0.00000824●●●●●●
195. 179659254 c.1270G>A p.A424T missense 0.00001648●●●●●●
196. 179659244 c.1280C>T p.A427V missense 0.00012358●●●●●●
197. 179659236 c.1288G>A p.V430I missense 0.00001648●●●●●●
198. 179659231 c.1293_1295delTGC p.A431_A432delinsA inframe 0.00000824●●●●●●
199. 179659227 c.1297G>A p.V433I missense 0.00022243●●●●●●
200. 179659220 c.1304T>C p.M435T missense 0.00000824●●●●●●
201. 179659218 c.1306G>A p.A436T missense 0.00000824●●●●●●
202. 179659217 c.1307C>T p.A436V missense 0.00000824●●●●●●
203. 179659206 c.1318G>A p.E440K missense 0.00000824●●●●●●
204. 179659200 c.1324G>A p.V442M missense 0.00007414●●●●●●
205. 179659199 c.1325T>G p.V442G missense 0.00003295●●●●●●
206. 179659199 c.1325T>C p.V442A missense 0.00000824●●●●●●
207. 179659196 c.1328T>G p.I443S missense 0.00000824●●●●●●
208. 179659195 c.1329C>G p.I443M missense 0.00000824●●●●●●
209. 179659194 c.1330A>G p.S444G missense 0.00003295●●●●●●
210. 179659191 c.1333G>A p.A445T missense 0.00023065●●●●●●
211. 179659190 c.1334C>T p.A445V missense 0.00000824●●●●●●
212. 179659190 c.1334C>A p.A445D missense 0.00000824●●●●●●
213. 179659188 c.1336G>A p.V446I missense 0.00000824●●●●●●
214. 179659172 c.1352A>G p.Q451R missense 0.00002471●●●●●●
215. 179659160 c.1364C>T p.T455M missense 0.00001647●●●●●●
216. 179659160 c.1364C>G p.T455R missense 0.00000824●●●●●●
217. 179659154 c.1370C>T p.A457V missense 0.00000824●●●●●●
218. 179659146 c.1378A>G p.I460V missense 0.00000824●●●●●●
219. 179659127 c.1397A>G p.Q466R missense 0.00004118●●●●●●
220. 179659122 c.1398+4C>T splice site 0.00025535●●●●●●
221. 179659122 c.1398+4C>A splice site 0.00001647●●●●●●
222. 179659121 c.1398+5G>A splice site 0.00014826●●●●●●
223. 179659118 c.1398+8C>T splice site 0.00350088●●●●●●
224. 179658271 c.1399-3C>T splice site 0.00000825●●●●●●
225. 179658269 c.1399-1G>C essential splice site 0.00000825●●●●●●
226. 179658268 c.1399G>A p.V467I missense 0.00000825●●●●●●
227. 179658267 c.1400T>C p.V467A missense 0.00000825●●●●●●
228. 179658255 c.1412C>T p.A471V missense 0.00003297●●●●●●
229. 179658253 c.1414G>A p.E472K missense 0.00000824●●●●●●
230. 179658246 c.1421C>T p.T474I missense 0.00000824●●●●●●
231. 179658223 c.1444G>T p.A482S missense 0.00000824●●●●●●
232. 179658220 c.1447G>A p.A483T missense 0.00003299●●●●●●
233. 179658217 c.1450G>A p.D484N missense 0.00006592●●●●●●
234. 179658212 c.1455dupA p.Ala486SerfsTer26 frameshift 0.00000824●●●●●●
235. 179658175 c.1492G>A p.V498I missense 0.01483721●●●●●●
236. 179658173 c.1494_1496delAAT p.Ile499del inframe 0.00000824●●●●●●
237. 179658169 c.1498A>G p.T500A missense 0.00000824●●●●●●
238. 179658166 c.1501A>G p.T501A missense 0.00000824●●●●●●
239. 179658161 c.1506G>T p.K502N missense 0.00000824●●●●●●
240. 179658146 c.1521C>G p.H507Q missense 0.00007416●●●●●●
241. 179658145 c.1522G>A p.V508I missense 0.00001648●●●●●●
242. 179658137 c.1530T>A p.H510Q missense 0.00002473●●●●●●
243. 179658125 c.1536+6A>G splice site 0.00000826●●●●●●
244. 179656928 c.1537-4G>A splice site 0.00215473●●●●●●
245. 179656926 c.1537-2A>G essential splice site 0.00001709●●●●●●
246. 179656920 c.1541G>A p.R514K missense 0.00002552●●●●●●
247. 179656920 c.1541_1543delGAA p.Arg514del inframe 0.00000849●●●●●●
248. 179656912 c.1549A>G p.T517A missense 0.00000848●●●●●●
249. 179656896 c.1565T>C p.V522A missense 0.00000843●●●●●●
250. 179656887 c.1574T>C p.V525A missense 0.00001685●●●●●●
251. 179656876 c.1585G>A p.A529T missense 0.00006740●●●●●●
252. 179656872 c.1589C>T p.A530V missense 0.00000843●●●●●●
253. 179656854 c.1607A>C p.E536A missense 0.00000846●●●●●●
254. 179656845 c.1616T>A p.I539N missense 0.00002546●●●●●●
255. 179656836 c.1625A>G p.E542G missense 0.00001704●●●●●●
256. 179656836 c.1625A>C p.E542A missense 0.00000852●●●●●●
257. 179656821 c.1640A>G p.Q547R missense 0.00005142●●●●●●
258. 179656815 c.1646A>T p.Q549L missense 0.00000859●●●●●●
259. 179656813 c.1648G>T p.V550L missense 0.00000859●●●●●●
260. 179656812 c.1649T>C p.V550A missense 0.00000859●●●●●●
261. 179656809 c.1652C>T p.T551I missense 0.00002579●●●●●●
262. 179656804 c.1657G>A p.E553K missense 0.00001723●●●●●●
263. 179656791 c.1662+8T>C splice site 0.00000867●●●●●●
264. 179655545 c.1690G>A p.A564T missense 0.00001649●●●●●●
265. 179655541 c.1694C>T p.S565F missense 0.00001649●●●●●●
266. 179655536 c.1699G>C p.V567L missense 0.00000824●●●●●●
267. 179655527 c.1708G>A p.A570T missense 0.00001648●●●●●●
268. 179655526 c.1709C>T p.A570V missense 0.00052744●●●●●●
269. 179655518 c.1717_1718delAA p.Lys573ValfsTer26 frameshift 0.00000824●●●●●●
270. 179655512 c.1723A>G p.T575A missense 0.00001648●●●●●●
271. 179655503 c.1732dupG p.Glu578GlyfsTer22 frameshift 0.00000824●●●●●●
272. 179655493 c.1742C>T p.P581L missense 0.00009887●●●●●●
273. 179655487 c.1748C>T p.A583V missense 0.00000824●●●●●●
274. 179655484 c.1751A>G p.Q584R missense 0.00000824●●●●●●
275. 179655470 c.1765A>G p.T589A missense 0.00000824●●●●●●
276. 179655470 c.1765A>T p.T589S missense 0.00000824●●●●●●
277. 179655469 c.1766C>T p.T589I missense 0.00000824●●●●●●
278. 179655464 c.1771C>G p.Q591E missense 0.00000824●●●●●●
279. 179655464 c.1771_1773delCAA p.Gln591del inframe 0.00000824●●●●●●
280. 179655460 c.1775A>T p.D592V missense 0.00000824●●●●●●
281. 179655434 c.1800+1G>A essential splice site 0.00004943●●●●●●
282. 179655432 c.1800+3G>A splice site 0.00000824●●●●●●
283. 179655427 c.1800+8C>G splice site 0.00000824●●●●●●
284. 179654849 c.1801-7T>C splice site 0.00000847●●●●●●
285. 179654847 c.1801-5A>C splice site 0.00000843●●●●●●
286. 179654846 c.1801-4delT splice site 0.00000842●●●●●●
287. 179654839 c.1804A>G p.M602V missense 0.00000836●●●●●●
288. 179654812 c.1831C>T p.P611S missense 0.00000827●●●●●●
289. 179654809 c.1834A>G p.K612E missense 0.00005785●●●●●●
290. 179654803 c.1840A>G p.I614V missense 0.00000826●●●●●●
291. 179654797 c.1846G>T p.A616S missense 0.00004953●●●●●●
292. 179654767 c.1876G>A p.V626I missense 0.00000825●●●●●●
293. 179654748 c.1895G>A p.G632D missense 0.00018139●●●●●●
294. 179654732 c.1911A>C p.R637S missense 0.00001649●●●●●●
295. 179654725 c.1918G>A p.V640M missense 0.00000824●●●●●●
296. 179654718 c.1925T>C p.I642T missense 0.00002473●●●●●●
297. 179654710 c.1933G>T p.E645X nonsense 0.00000824●●●●●●
298. 179654710 c.1933_1935delGAG p.Glu645del inframe 0.00001649●●●●●●
299. 179654704 c.1938+1G>T essential splice site 0.00000824●●●●●●
300. 179654231 c.1939-7T>C splice site 0.00000832●●●●●●
301. 179654220 c.1943G>C p.R648T missense 0.00004980●●●●●●
302. 179654209 c.1954G>A p.E652K missense 0.00004142●●●●●●
303. 179654199 c.1964C>T p.A655V missense 0.00000827●●●●●●
304. 179654199 c.1964C>A p.A655D missense 0.00000827●●●●●●
305. 179654188 c.1975A>G p.I659V missense 0.00001652●●●●●●
306. 179654179 c.1984G>A p.A662T missense 0.00000826●●●●●●
307. 179654158 c.2005C>A p.Q669K missense 0.00000825●●●●●●
308. 179654152 c.2011A>G p.T671A missense 0.00001651●●●●●●
309. 179654141 c.2022A>C p.R674S missense 0.00001650●●●●●●
310. 179654127 c.2036T>C p.M679T missense 0.00000825●●●●●●
311. 179654113 c.2050G>C p.E684Q missense 0.00000825●●●●●●
312. 179654094 c.2069A>G p.H690R missense 0.00001651●●●●●●
313. 179654080 c.2076+7A>G splice site 0.00000826●●●●●●
314. 179650871 c.2077-3C>A splice site 0.00000874●●●●●●
315. 179650862 c.2083G>T p.V695F missense 0.00000857●●●●●●
316. 179650862 c.2083G>A p.V695I missense 0.00001714●●●●●●
317. 179650861 c.2084T>C p.V695A missense 0.00000855●●●●●●
318. 179650858 c.2087G>A p.G696E missense 0.00000854●●●●●●
319. 179650855 c.2090A>G p.K697R missense 0.00000848●●●●●●
320. 179650831 c.2114T>A p.V705D missense 0.00000834●●●●●●
321. 179650829 c.2116G>A p.V706I missense 0.00000834●●●●●●
322. 179650807 c.2138G>A p.R713Q missense 0.00001660●●●●●●
323. 179650799 c.2146G>C p.E716Q missense 0.00000829●●●●●●
324. 179650794 c.2151delC p.Arg718GlufsTer29 frameshift 0.00000828●●●●●●
325. 179650793 c.2152A>G p.R718G missense 0.00001657●●●●●●
326. 179650792 c.2153G>A p.R718K missense 0.00000828●●●●●●
327. 179650790 c.2155G>A p.E719K missense 0.00000828●●●●●●
328. 179650766 c.2179T>C p.Y727H missense 0.00000826●●●●●●
329. 179650742 c.2203T>C p.Y735H missense 0.00001651●●●●●●
330. 179650736 c.2209T>A p.Y737N missense 0.00000825●●●●●●
331. 179650735 c.2210A>G p.Y737C missense 0.00001650●●●●●●
332. 179650727 c.2218C>A p.R740S missense 0.00009900●●●●●●
333. 179650726 c.2219G>A p.R740H missense 0.00002475●●●●●●
334. 179650718 c.2227G>A p.A743T missense 0.00000825●●●●●●
335. 179650715 c.2230G>A p.A744T missense 0.00036292●●●●●●
336. 179650712 c.2233A>G p.K745E missense 0.00000825●●●●●●
337. 179650691 c.2254C>T p.R752C missense 0.00001648●●●●●●
338. 179650690 c.2255G>A p.R752H missense 0.00002473●●●●●●
339. 179650685 c.2260G>A p.A754T missense 0.00001648●●●●●●
340. 179650681 c.2264C>T p.S755L missense 0.00043679●●●●●●
341. 179650676 c.2269C>G p.P757A missense 0.00001648●●●●●●
342. 179650675 c.2270C>T p.P757L missense 0.00172243●●●●●●
343. 179650675 c.2270C>A p.P757H missense 0.00001648●●●●●●
344. 179650670 c.2275G>A p.V759I missense 0.00001648●●●●●●
345. 179650657 c.2288C>T p.A763V missense 0.00001649●●●●●●
346. 179650650 c.2295G>T p.K765N missense 0.00000824●●●●●●
347. 179650635 c.2310G>T p.Q770H missense 0.00009065●●●●●●
348. 179650631 c.2314C>T p.P772S missense 0.00002472●●●●●●
349. 179650628 c.2317_2319delTCT p.Ser773del inframe 0.00000824●●●●●●
350. 179650627 c.2318C>T p.S773F missense 0.00004121●●●●●●
351. 179650621 c.2324C>A p.T775N missense 0.00004120●●●●●●
352. 179650621 c.2324C>T p.T775I missense 0.00000824●●●●●●
353. 179650594 c.2351delG p.Gly784GlufsTer14 frameshift 0.00000824●●●●●●
354. 179650587 c.2358C>G p.H786Q missense 0.00008240●●●●●●
355. 179650585 c.2360T>C p.I787T missense 0.00003296●●●●●●
356. 179650572 c.2370+3G>A splice site 0.00000824●●●●●●
357. 179650568 c.2370+7C>G splice site 0.00000824●●●●●●
358. 179650475 c.2371-6A>G splice site 0.00000824●●●●●●
359. 179650472 c.2371-3C>T splice site 0.00000824●●●●●●
360. 179650470 c.2371-1G>A essential splice site 0.00004120●●●●●●
361. 179650467 c.2373C>A splice site 0.00000824●●●●●●
362. 179650454 c.2386G>A p.D796N missense 0.00003296●●●●●●
363. 179650453 c.2387A>C p.D796A missense 0.00000824●●●●●●
364. 179650444 c.2396C>T p.T799M missense 0.00004944●●●●●●
365. 179650418 c.2422C>T p.R808C missense 0.00002472●●●●●●
366. 179650415 c.2425C>T p.P809S missense 0.00001648●●●●●●
367. 179650414 c.2426C>G p.P809R missense 0.00001648●●●●●●
368. 179650412 c.2428C>T p.R810C missense 0.00002472●●●●●●
369. 179650411 c.2429G>A p.R810H missense 0.00003297●●●●●●
370. 179650408 c.2432C>T p.T811I missense 0.16907050●●●●●●
371. 179650405 c.2435C>T p.A812V missense 0.00000824●●●●●●
372. 179650400 c.2440C>G p.P814A missense 0.00000824●●●●●●
373. 179650397 c.2443C>T p.H815Y missense 0.00000824●●●●●●
374. 179650367 c.2473A>G p.K825E missense 0.00000825●●●●●●
375. 179650366 c.2474A>G p.K825R missense 0.00000825●●●●●●
376. 179650365 c.2475G>C p.K825N missense 0.00000825●●●●●●
377. 179650357 c.2483A>G p.H828R missense 0.00000825●●●●●●
378. 179650343 c.2493+4A>T splice site 0.00000825●●●●●●
379. 179649085 c.2494-7C>A splice site 0.00001680●●●●●●
380. 179649084 c.2494-6A>C splice site 0.00000839●●●●●●
381. 179649083 c.2494-5T>C splice site 0.00000839●●●●●●
382. 179649078 c.2494G>T p.A832S missense 0.00000837●●●●●●
383. 179649070 c.2502A>G p.I834M missense 0.00000836●●●●●●
384. 179649068 c.2504C>A p.A835D missense 0.00002505●●●●●●
385. 179649066 c.2506G>A p.G836S missense 0.00005005●●●●●●
386. 179649053 c.2519C>G p.A840G missense 0.00000830●●●●●●
387. 179649050 c.2522C>A p.T841K missense 0.00000829●●●●●●
388. 179649045 c.2527C>G p.Q843E missense 0.00000828●●●●●●
389. 179649042 c.2530A>G p.K844E missense 0.00001655●●●●●●
390. 179649037 c.2535G>T p.E845D missense 0.00005791●●●●●●
391. 179649035 c.2537T>C p.L846S missense 0.00000827●●●●●●
392. 179649027 c.2545A>G p.T849A missense 0.00000826●●●●●●
393. 179648999 c.2573C>T p.S858L missense 0.00004948●●●●●●
394. 179648991 c.2581G>C p.A861P missense 0.00002474●●●●●●
395. 179648985 c.2587A>C p.T863P missense 0.00000824●●●●●●
396. 179648982 c.2590G>A p.V864M missense 0.00001649●●●●●●
397. 179648978 c.2594A>C p.K865T missense 0.00000824●●●●●●
398. 179648973 c.2599A>G p.S867G missense 0.00010716●●●●●●
399. 179648967 c.2605A>T p.T869S missense 0.00004122●●●●●●
400. 179648961 c.2611G>T p.V871L missense 0.00004121●●●●●●
401. 179648955 c.2617G>A p.A873T missense 0.00000824●●●●●●
402. 179648950 c.2622G>T p.E874D missense 0.00000824●●●●●●
403. 179648933 c.2639A>G p.Q880R missense 0.00000824●●●●●●
404. 179648922 c.2650G>A p.A884T missense 0.00004944●●●●●●
405. 179648910 c.2662G>A p.D888N missense 0.00007416●●●●●●
406. 179648906 c.2666C>T p.T889I missense 0.00001648●●●●●●
407. 179648903 c.2669A>T p.Y890F missense 0.00001648●●●●●●
408. 179648901 c.2671A>G p.K891E missense 0.00001648●●●●●●
409. 179648897 c.2675G>C p.S892T missense 0.00001648●●●●●●
410. 179648893 c.2679A>C p.E893D missense 0.00002472●●●●●●
411. 179648886 c.2686G>A p.V896I missense 0.00021424●●●●●●
412. 179648886 c.2686G>T p.V896F missense 0.00001648●●●●●●
413. 179648881 c.2691G>C p.E897D missense 0.00000824●●●●●●
414. 179648873 c.2699dupA p.Glu901GlyfsTer13 frameshift 0.00000824●●●●●●
415. 179648862 c.2710G>A p.V904M missense 0.00001648●●●●●●
416. 179648847 c.2725A>T p.T909S missense 0.00002472●●●●●●
417. 179648843 c.2729C>T p.T910I missense 0.00001648●●●●●●
418. 179648841 c.2731G>A p.V911I missense 0.00009888●●●●●●
419. 179648838 c.2734C>T p.R912C missense 0.00009888●●●●●●
420. 179648837 c.2735G>A p.R912H missense 0.00001648●●●●●●
421. 179648829 c.2743C>T p.R915C missense 0.00002472●●●●●●
422. 179648820 c.2752G>T p.V918L missense 0.00000824●●●●●●
423. 179648811 c.2761G>A p.G921R missense 0.00005770●●●●●●
424. 179648808 c.2764C>T p.R922C missense 0.00040389●●●●●●
425. 179648807 c.2765G>A p.R922H missense 0.00090665●●●●●●
426. 179648805 c.2767G>A p.E923K missense 0.00008243●●●●●●
427. 179648793 c.2775+4G>A splice site 0.00060176●●●●●●
428. 179648516 c.2776-4C>A splice site 0.00000833●●●●●●
429. 179648500 c.2788G>T p.A930S missense 0.00000828●●●●●●
430. 179648484 c.2804C>G p.P935R missense 0.00001652●●●●●●
431. 179648463 c.2825C>T p.P942L missense 0.00000826●●●●●●
432. 179648460 c.2828C>T p.P943L missense 0.00000826●●●●●●
433. 179648452 c.2836G>A p.V946I missense 0.00000826●●●●●●
434. 179648448 c.2840C>T p.S947L missense 0.00002480●●●●●●
435. 179648447 c.2841G>A splice site 0.00001653●●●●●●
436. 179647799 c.2842-8C>T splice site 0.00000835●●●●●●
437. 179647785 c.2848A>G p.K950E missense 0.00001663●●●●●●
438. 179647781 c.2852dupA p.Asn951LysfsTer8 frameshift 0.00000830●●●●●●
439. 179647779 c.2854G>C p.V952L missense 0.00000830●●●●●●
440. 179647775 c.2858C>G p.T953S missense 0.00000830●●●●●●
441. 179647770 c.2863A>G p.I955V missense 0.00001659●●●●●●
442. 179647740 c.2893C>T p.H965Y missense 0.00001655●●●●●●
443. 179647735 c.2898C>G p.I966M missense 0.00000827●●●●●●
444. 179647734 c.2899T>C p.S967P missense 0.00000827●●●●●●
445. 179647728 c.2905T>C p.Y969H missense 0.00001654●●●●●●
446. 179647727 c.2906A>G p.Y969C missense 0.00000827●●●●●●
447. 179647725 c.2908C>G p.P970A missense 0.00001653●●●●●●
448. 179647724 c.2909C>T p.P970L missense 0.00000827●●●●●●
449. 179647718 c.2915C>T p.P972L missense 0.00001653●●●●●●
450. 179647713 c.2920G>A p.V974M missense 0.00000826●●●●●●
451. 179647698 c.2935G>A p.E979K missense 0.00004126●●●●●●
452. 179647683 c.2950G>A p.E984K missense 0.00000825●●●●●●
453. 179647682 c.2951A>G p.E984G missense 0.00002474●●●●●●
454. 179647676 c.2957C>T p.S986F missense 0.00000824●●●●●●
455. 179647666 c.2967C>A p.F989L missense 0.00009067●●●●●●
456. 179647654 c.2979C>A p.F993L missense 0.00000824●●●●●●
457. 179647644 c.2989A>G p.I997V missense 0.00000824●●●●●●
458. 179647640 c.2993C>G p.A998G missense 0.00000824●●●●●●
459. 179647638 c.2995C>T p.R999C missense 0.00000824●●●●●●
460. 179647637 c.2996G>A p.R999H missense 0.00001649●●●●●●
461. 179647635 c.2998C>T p.L1000F missense 0.00003298●●●●●●
462. 179647631 c.3002T>G p.M1001R missense 0.00010717●●●●●●
463. 179647631 c.3002T>C p.M1001T missense 0.00006595●●●●●●
464. 179647626 c.3007C>T p.R1003C missense 0.00002473●●●●●●
465. 179647623 c.3010G>A p.E1004K missense 0.00009070●●●●●●
466. 179647613 c.3020C>T p.A1007V missense 0.00002474●●●●●●
467. 179647611 c.3022G>A p.E1008K missense 0.00000825●●●●●●
468. 179647602 c.3031G>A p.G1011R missense 0.00000825●●●●●●
469. 179647598 c.3035G>A p.R1012Q missense 0.00003300●●●●●●
470. 179647587 c.3046A>G p.S1016G missense 0.00000825●●●●●●
471. 179647572 c.3061G>T p.A1021S missense 0.00000825●●●●●●
472. 179647572 c.3061G>A p.A1021T missense 0.00000825●●●●●●
473. 179647563 c.3070G>A p.V1024I missense 0.00002477●●●●●●
474. 179647550 c.3083G>A p.C1028Y missense 0.00000826●●●●●●
475. 179647547 c.3086A>G p.Y1029C missense 0.00001652●●●●●●
476. 179647547 c.3086A>C p.Y1029S missense 0.00000826●●●●●●
477. 179647545 c.3088C>G p.L1030V missense 0.00001653●●●●●●
478. 179647542 c.3091G>A p.A1031T missense 0.00000826●●●●●●
479. 179647539 c.3094G>A p.V1032M missense 0.00000827●●●●●●
480. 179647533 c.3100G>A p.V1034M missense 0.00095093●●●●●●
481. 179647334 c.3101-5T>A splice site 0.00000857●●●●●●
482. 179647327 c.3103T>A p.S1035T missense 0.00000851●●●●●●
483. 179647327 c.3103T>G p.S1035A missense 0.00002553●●●●●●
484. 179647326 c.3104C>A p.S1035X nonsense 0.00000851●●●●●●
485. 179647321 c.3109G>T p.E1037X nonsense 0.00000848●●●●●●
486. 179647305 c.3125C>G p.T1042S missense 0.00000841●●●●●●
487. 179647300 c.3130G>A p.A1044T missense 0.00002520●●●●●●
488. 179647298 c.3132_3133insCTTTGAAAAGAATTTGAAAAGGAAACCACA nonsense 0.00000839●●●●●●
489. 179647297 c.3133G>A p.V1045M missense 0.00012586●●●●●●
490. 179647293 c.3137C>T p.T1046I missense 0.00000839●●●●●●
491. 179647285 c.3145T>C p.F1049L missense 0.00000838●●●●●●
492. 179647267 c.3163C>T p.R1055C missense 0.00000839●●●●●●
493. 179647266 c.3164G>A p.R1055H missense 0.00000839●●●●●●
494. 179647263 c.3164+3A>G splice site 0.00000839●●●●●●
495. 179647154 c.3165C>T splice site 0.00000828●●●●●●
496. 179647150 c.3169G>A p.V1057I missense 0.00000827●●●●●●
497. 179647149 c.3170T>C p.V1057A missense 0.00007447●●●●●●
498. 179647129 c.3190A>T p.M1064L missense 0.00000826●●●●●●
499. 179647128 c.3191T>C p.M1064T missense 0.00000826●●●●●●
500. 179647111 c.3208A>G p.T1070A missense 0.00000825●●●●●●
501. 179647108 c.3211G>A p.E1071K missense 0.00000825●●●●●●
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512. 179646984 c.3335A>T p.H1112L missense 0.00000824●●●●●●
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520. 179645973 c.3398A>G p.N1133S missense 0.00008283●●●●●●
521. 179645962 c.3409G>C p.G1137R missense 0.00211563●●●●●●
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523. 179645958 c.3413A>G p.E1138G missense 0.00002478●●●●●●
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527. 179645908 c.3463A>G p.T1155A missense 0.00000826●●●●●●
528. 179645902 c.3469G>A p.V1157I missense 0.00004128●●●●●●
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530. 179645899 c.3472_3474delGTT p.Val1158del inframe 0.00000826●●●●●●
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532. 179645896 c.3475C>T p.R1159C missense 0.00000826●●●●●●
533. 179645886 c.3485A>G p.H1162R missense 0.00000826●●●●●●
534. 179645883 c.3488G>A p.G1163E missense 0.00000826●●●●●●
535. 179645877 c.3494C>A p.T1165N missense 0.00000826●●●●●●
536. 179645874 c.3497C>T p.S1166F missense 0.00000826●●●●●●
537. 179645862 c.3509C>T p.S1170F missense 0.00000826●●●●●●
538. 179645858 c.3513G>T p.L1171F missense 0.00000826●●●●●●
539. 179645857 c.3514C>A p.L1172I missense 0.00003304●●●●●●
540. 179645849 c.3522A>C p.E1174D missense 0.00006609●●●●●●
541. 179645848 c.3523G>A p.A1175T missense 0.00016526●●●●●●
542. 179644935 c.3524-3T>C splice site 0.00000835●●●●●●
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544. 179644894 c.3562C>T p.L1188F missense 0.00000826●●●●●●
545. 179644882 c.3574C>G p.Q1192E missense 0.00001651●●●●●●
546. 179644855 c.3601A>G p.K1201E missense 0.69444399●●●●●●
547. 179644851 c.3605T>C p.V1202A missense 0.00019797●●●●●●
548. 179644849 c.3607G>A p.G1203R missense 0.00000825●●●●●●
549. 179644848 c.3608G>C p.G1203A missense 0.00008249●●●●●●
550. 179644845 c.3611A>C p.E1204A missense 0.00001650●●●●●●
551. 179644843 c.3613A>G p.T1205A missense 0.00000825●●●●●●
552. 179644840 c.3616G>T p.A1206S missense 0.00005775●●●●●●
553. 179644839 c.3617C>G p.A1206G missense 0.00000825●●●●●●
554. 179644837 c.3619C>A p.P1207T missense 0.00001650●●●●●●
555. 179644836 c.3620C>G p.P1207R missense 0.00000825●●●●●●
556. 179644813 c.3643G>A p.E1215K missense 0.00000825●●●●●●
557. 179644806 c.3650_3651delAG p.Glu1217ValfsTer2 frameshift 0.00000825●●●●●●
558. 179644788 c.3668C>T p.A1223V missense 0.00121273●●●●●●
559. 179644776 c.3680A>G p.K1227R missense 0.00001650●●●●●●
560. 179644776 c.3680A>C p.K1227T missense 0.00000825●●●●●●
561. 179644765 c.3691A>G p.K1231E missense 0.00001650●●●●●●
562. 179644763 c.3693A>C p.K1231N missense 0.00000825●●●●●●
563. 179644761 c.3695A>T p.D1232V missense 0.00012375●●●●●●
564. 179644743 c.3713C>A p.T1238N missense 0.00002476●●●●●●
565. 179644743 c.3713C>G p.T1238S missense 0.00000825●●●●●●
566. 179644737 c.3719T>C p.V1240A missense 0.00000825●●●●●●
567. 179644728 c.3728A>G p.Q1243R missense 0.00000826●●●●●●
568. 179644726 c.3729+1G>A essential splice site 0.00000826●●●●●●
569. 179644720 c.3729+7A>G splice site 0.00000826●●●●●●
570. 179644196 c.3730-7T>C splice site 0.00001250●●●●●●
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572. 179644161 c.3758G>A p.R1253K missense 0.00001108●●●●●●
573. 179644156 c.3763A>G p.I1255V missense 0.00001064●●●●●●
574. 179644153 c.3766A>G p.K1256E missense 0.00001056●●●●●●
575. 179644146 c.3773T>C p.I1258T missense 0.00001044●●●●●●
576. 179644134 c.3785T>C p.I1262T missense 0.00002022●●●●●●
577. 179644111 c.3808C>G p.L1270V missense 0.00000923●●●●●●
578. 179644108 c.3811C>A p.L1271I missense 0.00000914●●●●●●
579. 179644100 c.3819A>C p.E1273D missense 0.00000891●●●●●●
580. 179644097 c.3822T>G p.D1274E missense 0.00000887●●●●●●
581. 179644084 c.3835A>T p.M1279L missense 0.00034493●●●●●●
582. 179644080 c.3839C>A p.A1280E missense 0.00000855●●●●●●
583. 179644068 c.3851C>T p.S1284F missense 0.00000843●●●●●●
584. 179644051 c.3868G>A p.E1290K missense 0.00001670●●●●●●
585. 179644051 c.3868G>C p.E1290Q missense 0.00000835●●●●●●
586. 179644047 c.3872C>T p.S1291L missense 0.00000833●●●●●●
587. 179644041 c.3878T>C p.F1293S missense 0.00000832●●●●●●
588. 179644035 c.3884C>T p.S1295L missense 0.96057697●●●●●●
589. 179644033 c.3886A>G p.R1296G missense 0.00000828●●●●●●
590. 179644020 c.3899A>G p.Y1300C missense 0.00001656●●●●●●
591. 179644006 c.3913G>C p.G1305R missense 0.00010774●●●●●●
592. 179644006 c.3913G>T p.G1305W missense 0.00007459●●●●●●
593. 179643999 c.3920G>A p.G1307D missense 0.00000829●●●●●●
594. 179643979 c.3940A>G p.M1314V missense 0.00001659●●●●●●
595. 179643977 c.3942G>A p.M1314I missense 0.00000830●●●●●●
596. 179643964 c.3955T>A p.L1319I missense 0.00003320●●●●●●
597. 179643948 c.3963+8A>G splice site 0.00000830●●●●●●
598. 179643842 c.3967G>T p.A1323S missense 0.00008312●●●●●●
599. 179643842 c.3967G>A p.A1323T missense 0.00000831●●●●●●
600. 179643841 c.3968C>T p.A1323V missense 0.00000831●●●●●●
601. 179643821 c.3988C>T p.R1330C missense 0.00009960●●●●●●
602. 179643820 c.3989G>A p.R1330H missense 0.00003322●●●●●●
603. 179643811 c.3998A>G p.H1333R missense 0.00001658●●●●●●
604. 179643790 c.4019A>G p.D1340G missense 0.00002483●●●●●●
605. 179643775 c.4034G>A p.G1345D missense 0.00993169●●●●●●
606. 179643767 c.4042A>G p.S1348G missense 0.00002480●●●●●●
607. 179643761 c.4048C>T p.R1350C missense 0.00000826●●●●●●
608. 179643760 c.4049G>A p.R1350H missense 0.00014048●●●●●●
609. 179643749 c.4060G>A p.V1354I missense 0.00000826●●●●●●
610. 179643737 c.4072G>T p.D1358Y missense 0.00001652●●●●●●
611. 179643733 c.4076A>C p.E1359A missense 0.00000826●●●●●●
612. 179643733 c.4076A>G p.E1359G missense 0.00010736●●●●●●
613. 179643728 c.4081A>C p.I1361L missense 0.00001652●●●●●●
614. 179643722 c.4087A>G p.T1363A missense 0.00001652●●●●●●
615. 179643706 c.4103A>C p.N1368T missense 0.00000826●●●●●●
616. 179643706 c.4103A>G p.N1368S missense 0.00000826●●●●●●
617. 179643695 c.4114A>C p.N1372H missense 0.00000826●●●●●●
618. 179643691 c.4118C>T p.A1373V missense 0.00001652●●●●●●
619. 179643689 c.4120A>G p.I1374V missense 0.00002478●●●●●●
620. 179643680 c.4129G>A p.G1377R missense 0.00000826●●●●●●
621. 179643662 c.4147C>G p.P1383A missense 0.00002479●●●●●●
622. 179643662 c.4147C>A p.P1383T missense 0.00000826●●●●●●
623. 179643659 c.4150G>T p.A1384S missense 0.00003305●●●●●●
624. 179643656 c.4153G>A p.A1385T missense 0.00009090●●●●●●
625. 179643649 c.4160T>C p.L1387P missense 0.00004959●●●●●●
626. 179643640 c.4169C>T p.P1390L missense 0.00004960●●●●●●
627. 179643632 c.4177A>G p.I1393V missense 0.01217193●●●●●●
628. 179643626 c.4183A>T p.T1395S missense 0.00002482●●●●●●
629. 179643620 c.4189G>C p.E1397Q missense 0.00000828●●●●●●
630. 179643610 c.4199G>C p.S1400T missense 0.00067127●●●●●●
631. 179643601 c.4208G>C p.R1403T missense 0.00033209●●●●●●
632. 179642701 c.4210T>G p.S1404A missense 0.00000900●●●●●●
633. 179642698 c.4213C>G p.L1405V missense 0.00001784●●●●●●
634. 179642698 c.4213C>A p.L1405I missense 0.00000892●●●●●●
635. 179642689 c.4222C>A p.R1408S missense 0.00000867●●●●●●
636. 179642689 c.4222C>T p.R1408C missense 0.00000867●●●●●●
637. 179642688 c.4223G>A p.R1408H missense 0.00003460●●●●●●
638. 179642683 c.4228G>C p.V1410L missense 0.00005131●●●●●●
639. 179642667 c.4244T>C p.I1415T missense 0.00000839●●●●●●
640. 179642665 c.4246C>T p.R1416C missense 0.00499229●●●●●●
641. 179642664 c.4247G>A p.R1416H missense 0.00001674●●●●●●
642. 179642653 c.4258G>A p.A1420T missense 0.00000833●●●●●●
643. 179642650 c.4261C>T p.R1421W missense 0.00007486●●●●●●
644. 179642649 c.4262G>A p.R1421Q missense 0.00003326●●●●●●
645. 179642641 c.4270C>T p.P1424S missense 0.00004152●●●●●●
646. 179642637 c.4274C>T p.A1425V missense 0.00000829●●●●●●
647. 179642630 c.4281delG p.Met1427IlefsTer35 frameshift 0.00000828●●●●●●
648. 179642622 c.4289C>A p.A1430E missense 0.00034744●●●●●●
649. 179642620 c.4291C>T p.R1431W missense 0.00016545●●●●●●
650. 179642619 c.4292G>A p.R1431Q missense 0.00006617●●●●●●
651. 179642613 c.4298C>T p.S1433F missense 0.00000827●●●●●●
652. 179642602 c.4309A>C p.M1437L missense 0.00000826●●●●●●
653. 179642600 c.4311G>A p.M1437I missense 0.00000826●●●●●●
654. 179642590 c.4321C>T p.R1441C missense 0.00001651●●●●●●
655. 179642589 c.4322G>C p.R1441P missense 0.01113001●●●●●●
656. 179642589 c.4322G>A p.R1441H missense 0.00001651●●●●●●
657. 179642583 c.4328T>C p.L1443P missense 0.00435055●●●●●●
658. 179642583 c.4328T>A p.L1443Q missense 0.00000826●●●●●●
659. 179642552 c.4359A>T p.R1453S missense 0.00047021●●●●●●
660. 179642533 c.4378G>A p.V1460M missense 0.00000825●●●●●●
661. 179642515 c.4396T>C p.F1466L missense 0.00053607●●●●●●
662. 179642490 c.4421C>T p.A1474V missense 0.00000825●●●●●●
663. 179642490 c.4421C>G p.A1474G missense 0.00001649●●●●●●
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665. 179642482 c.4429G>C p.D1477H missense 0.00002474●●●●●●
666. 179642475 c.4436A>G p.K1479R missense 0.00001649●●●●●●
667. 179642462 c.4449A>T p.R1483S missense 0.00004122●●●●●●
668. 179642458 c.4453A>G p.M1485V missense 0.00002474●●●●●●
669. 179642449 c.4462A>G p.T1488A missense 0.00002474●●●●●●
670. 179642448 c.4463C>T p.T1488M missense 0.00001649●●●●●●
671. 179642448 c.4463C>A p.T1488K missense 0.00000825●●●●●●
672. 179642436 c.4475A>T p.H1492L missense 0.00000824●●●●●●
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674. 179642430 c.4480+1G>A essential splice site 0.00000824●●●●●●
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677. 179642279 c.4513G>T p.V1505L missense 0.00000828●●●●●●
678. 179642260 c.4532G>A p.G1511D missense 0.00000829●●●●●●
679. 179642257 c.4535C>T p.T1512I missense 0.00002488●●●●●●
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681. 179642162 c.4630A>G p.I1544V missense 0.00526817●●●●●●
682. 179642153 c.4639G>A p.V1547M missense 0.00003433●●●●●●
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685. 179642051 c.4646-7C>A splice site 0.00003348●●●●●●
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688. 179642039 c.4651G>A p.E1551K missense 0.00000834●●●●●●
689. 179642027 c.4663A>T p.K1555X nonsense 0.00000831●●●●●●
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691. 179642019 c.4671G>A p.M1557I missense 0.00026548●●●●●●
692. 179642015 c.4675G>A p.V1559I missense 0.00000829●●●●●●
693. 179641997 c.4693G>A p.V1565I missense 0.00000827●●●●●●
694. 179641990 c.4700T>C p.I1567T missense 0.00000826●●●●●●
695. 179641981 c.4709G>C p.G1570A missense 0.00009903●●●●●●
696. 179641975 c.4715G>A p.R1572Q missense 0.07111511●●●●●●
697. 179641975 c.4715G>T p.R1572L missense 0.00000825●●●●●●
698. 179641963 c.4727A>C p.K1576T missense 0.00000824●●●●●●
699. 179641951 c.4739C>T p.T1580M missense 0.00173889●●●●●●
700. 179641904 c.4786A>G p.I1596V missense 0.00000824●●●●●●
701. 179641898 c.4792C>T p.P1598S missense 0.00000824●●●●●●
702. 179641895 c.4795C>T p.H1599Y missense 0.00000824●●●●●●
703. 179641883 c.4807A>C p.K1603Q missense 0.00001649●●●●●●
704. 179641881 c.4809A>T p.K1603N missense 0.00001649●●●●●●
705. 179641873 c.4814+3A>G splice site 0.00000825●●●●●●
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708. 179641750 c.4841_4842insTGC p.Ala1614dup inframe 0.00000830●●●●●●
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710. 179641717 c.4874C>G p.S1625C missense 0.00004147●●●●●●
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715. 179641669 c.4922C>T p.T1641I missense 0.00000827●●●●●●
716. 179641643 c.4948G>C p.E1650Q missense 0.00001653●●●●●●
717. 179641624 c.4967C>T p.P1656L missense 0.00000826●●●●●●
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720. 179641610 c.4981A>C p.I1661L missense 0.00000826●●●●●●
721. 179641601 c.4990C>T p.R1664W missense 0.00000826●●●●●●
722. 179641600 c.4991G>A p.R1664Q missense 0.00002478●●●●●●
723. 179641591 c.5000A>G p.Y1667C missense 0.00001651●●●●●●
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726. 179641524 c.5067G>A p.W1689X nonsense 0.00000825●●●●●●
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728. 179641516 c.5075G>A p.G1692D missense 0.00000825●●●●●●
729. 179641511 c.5080C>T p.L1694F missense 0.00000825●●●●●●
730. 179641505 c.5086G>A p.D1696N missense 0.00000825●●●●●●
731. 179641476 c.5115C>G p.F1705L missense 0.00001651●●●●●●
732. 179641459 c.5132C>T p.S1711F missense 0.00001651●●●●●●
733. 179641450 c.5141T>A p.L1714H missense 0.00000825●●●●●●
734. 179641445 c.5146C>T p.R1716C missense 0.00001651●●●●●●
735. 179641444 c.5147G>A p.R1716H missense 0.00000825●●●●●●
736. 179641406 c.5185A>T p.I1729F missense 0.00000825●●●●●●
737. 179641394 c.5197A>G p.T1733A missense 0.00001651●●●●●●
738. 179641393 c.5198C>T p.T1733M missense 0.00023935●●●●●●
739. 179641381 c.5210A>G p.E1737G missense 0.00000825●●●●●●
740. 179641376 c.5215C>T p.L1739F missense 0.00001651●●●●●●
741. 179641369 c.5222A>G p.D1741G missense 0.00000825●●●●●●
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1329. 179631137 c.9674A>G p.N3225S missense 0.00002473●●●●●●
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1453. 179622357 c.10590C>A p.Y3530X nonsense 0.00000830●●●●●●
1454. 179622355 c.10592C>G p.S3531X nonsense 0.00000830●●●●●●
1455. 179622351 c.10596G>C p.E3532D missense 0.00001663●●●●●●
1456. 179622344 c.10603G>A p.G3535R missense 0.00001668●●●●●●
1457. 179622331 c.10616G>C p.C3539S missense 0.00000843●●●●●●
1458. 179622330 c.10617C>A p.C3539X nonsense 0.00000844●●●●●●
1459. 179622319 c.10628A>G p.N3543S missense 0.00001713●●●●●●
1460. 179622293 c.10654G>C p.A3552P missense 0.00003569●●●●●●
1461. 179622289 c.10658C>T p.T3553I missense 0.00000895●●●●●●
1462. 179622283 c.10664_10665delCA p.Thr3555SerfsTer10 frameshift 0.00000900●●●●●●
1463. 179622277 c.10670C>G p.T3557S missense 0.00000903●●●●●●
1464. 179621529 c.10679-5T>C splice site 0.00000862●●●●●●
1465. 179621527 c.10679-3C>T splice site 0.00001725●●●●●●
1466. 179621521 c.10682A>G p.Q3561R missense 0.00019535●●●●●●
1467. 179621513 c.10690G>C p.D3564H missense 0.00003373●●●●●●
1468. 179621503 c.10700G>A p.S3567N missense 0.01405498●●●●●●
1469. 179621491 c.10712A>G p.D3571G missense 0.00000835●●●●●●
1470. 179621479 c.10724C>T p.S3575F missense 0.00000833●●●●●●
1471. 179621477 c.10726G>A p.A3576T missense 0.99968490●●●●●●
1472. 179621459 c.10744G>A p.A3582T missense 0.00000830●●●●●●
1473. 179621455 c.10748A>G p.D3583G missense 0.00000830●●●●●●
1474. 179621455 c.10748A>C p.D3583A missense 0.00000830●●●●●●
1475. 179621434 c.10769A>T p.E3590V missense 0.00000830●●●●●●
1476. 179621433 c.10770G>C p.E3590D missense 0.00012450●●●●●●
1477. 179621425 c.10778T>G p.I3593R missense 0.00000830●●●●●●
1478. 179621423 c.10780T>G p.S3594A missense 0.00000830●●●●●●
1479. 179621422 c.10781C>G p.S3594C missense 0.00002490●●●●●●
1480. 179621409 c.10794dupT p.Lys3599Ter frameshift 0.00001660●●●●●●
1481. 179621404 c.10799C>A p.S3600X nonsense 0.00001660●●●●●●
1482. 179621384 c.10819G>T p.Glu3607Ter nonsense 0.00002491●●●●●●
1483. 179621372 c.10831C>A p.Q3611K missense 0.00000830●●●●●●
1484. 179621368 c.10835T>C p.V3612A missense 0.00000831●●●●●●
1485. 179621363 c.10840G>T p.Glu3614Ter nonsense 0.00008309●●●●●●
1486. 179621354 c.10849T>C p.S3617P missense 0.00000831●●●●●●
1487. 179621353 c.10850C>T p.S3617F missense 0.00518061●●●●●●
1488. 179621351 c.10852C>T p.Q3618X nonsense 0.00000832●●●●●●
1489. 179621349 c.10854A>C p.Q3618H missense 0.00095639●●●●●●
1490. 179621335 c.10868C>T p.T3623I missense 0.00000833●●●●●●
1491. 179621306 c.10897T>C p.C3633R missense 0.00000834●●●●●●
1492. 179621302 c.10901A>G p.H3634R missense 0.00002503●●●●●●
1493. 179621296 c.10907C>T p.A3636V missense 0.00000834●●●●●●
1494. 179621281 c.10922T>C p.I3641T missense 0.00015838●●●●●●
1495. 179621272 c.10931G>A p.S3644N missense 0.00662533●●●●●●
1496. 179621256 c.10947G>C p.K3649N missense 0.00001664●●●●●●
1497. 179621236 c.10967C>T p.T3656M missense 0.00004156●●●●●●
1498. 179621227 c.10976C>T p.A3659V missense 0.00002492●●●●●●
1499. 179621225 c.10978C>T p.P3660S missense 0.00000831●●●●●●
1500. 179621222 c.10981A>G p.K3661E missense 0.00000830●●●●●●
1501. 179621216 c.10987T>C p.F3663L missense 0.00001661●●●●●●
1502. 179621203 c.11000A>T p.Q3667L missense 0.00001661●●●●●●
1503. 179621198 c.11005G>A p.V3669I missense 0.00001661●●●●●●
1504. 179621189 c.11014A>C p.K3672Q missense 0.00000831●●●●●●
1505. 179621184 c.11019_11020insTGGAATTGTATAATTTTCTCATGGCA p.Gly3674TrpfsTer19 frameshift 0.00000831●●●●●●
1506. 179621183 c.11020G>A p.G3674S missense 0.00004153●●●●●●
1507. 179621177 c.11026A>T p.T3676S missense 0.00000831●●●●●●
1508. 179621140 c.11063T>C p.F3688S missense 0.00005814●●●●●●
1509. 179621137 c.11066T>C p.I3689T missense 0.00019103●●●●●●
1510. 179621128 c.11075C>A p.T3692N missense 0.00001661●●●●●●
1511. 179621119 c.11084_11085insA p.His3695GlnfsTer27 frameshift 0.00000830●●●●●●
1512. 179621117 c.11086G>A p.E3696K missense 0.00001661●●●●●●
1513. 179621095 c.11108C>A p.S3703Y missense 0.00000830●●●●●●
1514. 179621093 c.11110G>A p.E3704K missense 0.00000830●●●●●●
1515. 179621090 c.11113delA p.R3705Dfs*2 frameshift 0.00001660●●●●●●
1516. 179621086 c.11117T>C p.L3706P missense 0.00000830●●●●●●
1517. 179621082 c.11121delA p.Lys3707AsnfsTer19 frameshift 0.00000830●●●●●●
1518. 179621080 c.11123A>T p.Q3708L missense 0.00000830●●●●●●
1519. 179621051 c.11152A>G p.T3718A missense 0.00000829●●●●●●
1520. 179621048 c.11155A>G p.I3719V missense 0.00000829●●●●●●
1521. 179621026 c.11177A>T p.D3726V missense 0.00000829●●●●●●
1522. 179621020 c.11183dupG p.Leu3729ThrfsTer9 frameshift 0.00009947●●●●●●
1523. 179621013 c.11190C>G p.Y3730X nonsense 0.00000829●●●●●●
1524. 179621006 c.11197A>G p.I3733V missense 0.00001658●●●●●●
1525. 179620996 c.11207A>G p.N3736S missense 0.00000829●●●●●●
1526. 179620987 c.11216G>A p.G3739E missense 0.00001660●●●●●●
1527. 179620985 c.11218G>A p.E3740K missense 0.00001660●●●●●●
1528. 179620982 c.11221_11222delAG p.Arg3741AspfsTer13 frameshift 0.00000831●●●●●●
1529. 179620976 c.11227A>G p.T3743A missense 0.00000831●●●●●●
1530. 179620975 c.11228C>T p.T3743M missense 0.00004158●●●●●●
1531. 179620954 c.11249A>G p.E3750G missense 0.00000834●●●●●●
1532. 179620951 c.11252G>A p.G3751D missense 0.85080113●●●●●●
1533. 179620950 c.11253T>C splice site 0.00001737●●●●●●
1534. 179620948 c.11254+1G>C essential splice site 0.00002619●●●●●●
1535. 179620947 c.11254+2T>C essential splice site 0.00040205●●●●●●
1536. 179620943 c.11254+6T>C splice site 0.00010537●●●●●●
1537. 179620941 c.11254+8G>T splice site 0.00000880●●●●●●
1538. 179617906 c.11256T>C p.A3752A splice site 0.00000938●●●●●●
1539. 179617902 c.11260G>C p.E3754Q missense 0.00000931●●●●●●
1540. 179617881 c.11281A>G p.I3761V missense 0.00000910●●●●●●
1541. 179617880 c.11282T>C p.I3761T missense 0.00000909●●●●●●
1542. 179617869 c.11293A>G p.I3765V missense 0.00000909●●●●●●
1543. 179617861 c.11301G>A p.M3767I missense 0.00004570●●●●●●
1544. 179617857 c.11305A>G p.M3769V missense 0.00000917●●●●●●
1545. 179606622 c.11338G>A p.E3780K missense 0.00007301●●●●●●
1546. 179606619 c.11341G>A p.E3781K missense 0.00003435●●●●●●
1547. 179606601 c.11359G>A p.A3787T missense 0.00004996●●●●●●
1548. 179606598 c.11362G>A p.E3788K missense 0.00002341●●●●●●
1549. 179606590 c.11370A>T p.Q3790H missense 0.00001885●●●●●●
1550. 179606570 c.11390C>T p.T3797I missense 0.00001308●●●●●●
1551. 179606562 c.11398C>T p.L3800F missense 0.00002388●●●●●●
1552. 179606544 c.11416G>A p.V3806I missense 0.00000989●●●●●●
1553. 179606538 c.11422C>T p.P3808S missense 0.18877877●●●●●●
1554. 179606534 c.11426C>T p.T3809I missense 0.00000893●●●●●●
1555. 179606520 c.11440G>A p.E3814K missense 0.00013783●●●●●●
1556. 179606510 c.11450G>T p.G3817V missense 0.00000851●●●●●●
1557. 179606510 c.11450G>A p.G3817D missense 0.00001702●●●●●●
1558. 179606475 c.11485G>T p.A3829S missense 0.00000833●●●●●●
1559. 179606474 c.11486C>T p.A3829V missense 0.00000832●●●●●●
1560. 179606461 c.11499G>A p.M3833I missense 0.00003325●●●●●●
1561. 179606460 c.11500G>C p.G3834R missense 0.00001662●●●●●●
1562. 179606454 c.11506G>A p.V3836M missense 0.00100525●●●●●●
1563. 179606439 c.11521G>A p.V3841I missense 0.00000830●●●●●●
1564. 179606432 c.11528T>C p.V3843A missense 0.00000830●●●●●●
1565. 179606411 c.11549A>G p.K3850R missense 0.00000829●●●●●●
1566. 179606393 c.11567A>G p.N3856S missense 0.00001658●●●●●●
1567. 179606391 c.11569G>A p.G3857R missense 0.00000829●●●●●●
1568. 179606390 c.11570G>A p.G3857E missense 0.00000829●●●●●●
1569. 179606376 c.11584C>A p.P3862T missense 0.00001658●●●●●●
1570. 179606375 c.11585C>G p.P3862R missense 0.00005802●●●●●●
1571. 179606370 c.11590G>C p.A3864P missense 0.00000829●●●●●●
1572. 179606364 c.11596T>C p.Y3866H missense 0.00000829●●●●●●
1573. 179606360 c.11600A>G p.K3867R missense 0.00000829●●●●●●
1574. 179606355 c.11605G>C p.V3869L missense 0.00000829●●●●●●
1575. 179606346 c.11614G>A p.G3872S missense 0.00000829●●●●●●
1576. 179606345 c.11615G>T p.G3872V missense 0.00000829●●●●●●
1577. 179606325 c.11635A>G p.I3879V missense 0.00000829●●●●●●
1578. 179606322 c.11638C>G p.L3880V missense 0.00000829●●●●●●
1579. 179606312 c.11648A>G p.K3883R missense 0.00000829●●●●●●
1580. 179606307 c.11653G>C p.E3885Q missense 0.00000829●●●●●●
1581. 179606293 c.11667G>T p.E3889D missense 0.00000829●●●●●●
1582. 179606288 c.11672C>T p.T3891I missense 0.00041447●●●●●●
1583. 179606277 c.11683A>T p.S3895C missense 0.00000829●●●●●●
1584. 179606276 c.11684G>A p.S3895N missense 0.00000829●●●●●●
1585. 179606267 c.11693A>G p.Y3898C missense 0.00000829●●●●●●
1586. 179606254 c.11706A>G p.I3902M missense 0.00000829●●●●●●
1587. 179606243 c.11717A>G p.Y3906C missense 0.00000829●●●●●●
1588. 179606241 c.11719C>G p.L3907V missense 0.00342352●●●●●●
1589. 179606226 c.11734A>G p.K3912E missense 0.00000829●●●●●●
1590. 179606214 c.11746C>G p.H3916D missense 0.00000829●●●●●●
1591. 179606207 c.11753A>G p.D3918G missense 0.00001657●●●●●●
1592. 179606204 c.11756C>A p.T3919N missense 0.00002485●●●●●●
1593. 179606204 c.11756C>T p.T3919I missense 0.00000828●●●●●●
1594. 179606183 c.11777C>T p.A3926V missense 0.00003313●●●●●●
1595. 179606172 c.11788G>A p.E3930K missense 0.00033135●●●●●●
1596. 179606157 c.11803C>T p.P3935S missense 0.00000828●●●●●●
1597. 179606151 c.11809C>T p.P3937S missense 0.00000828●●●●●●
1598. 179606118 c.11842C>T p.R3948C missense 0.00021575●●●●●●
1599. 179606117 c.11843G>A p.R3948H missense 0.00002490●●●●●●
1600. 179606106 c.11854G>C p.G3952R missense 0.00000830●●●●●●
1601. 179606105 c.11855G>T p.G3952V missense 0.00000830●●●●●●
1602. 179606105 c.11855G>A p.G3952E missense 0.00001660●●●●●●
1603. 179606100 c.11860C>T p.P3954S missense 0.00000830●●●●●●
1604. 179606069 c.11891A>T p.E3964V missense 0.00000831●●●●●●
1605. 179606052 c.11908A>G p.T3970A missense 0.00000831●●●●●●
1606. 179606047 c.11913G>T p.W3971C missense 0.00000832●●●●●●
1607. 179606021 c.11939C>T p.T3980I missense 0.00000832●●●●●●
1608. 179606018 c.11942G>C p.S3981T missense 0.00000832●●●●●●
1609. 179606009 c.11951A>T p.Y3984F missense 0.00000832●●●●●●
1610. 179606004 c.11956A>G p.I3986V missense 0.00000832●●●●●●
1611. 179606003 c.11957T>G p.I3986S missense 0.00000832●●●●●●
1612. 179606001 c.11959A>G p.I3987V missense 0.00023308●●●●●●
1613. 179605998 c.11962C>T p.H3988Y missense 0.00000833●●●●●●
1614. 179605991 c.11969C>T p.P3990L missense 0.00704167●●●●●●
1615. 179605986 c.11974G>A p.G3992S missense 0.00002497●●●●●●
1616. 179605983 c.11977T>C p.S3993P missense 0.00000832●●●●●●
1617. 179605976 c.11984C>T p.T3995I missense 0.00000832●●●●●●
1618. 179605973 c.11987T>C p.F3996S missense 0.00000832●●●●●●
1619. 179605964 c.11996A>G p.N3999S missense 0.00013315●●●●●●
1620. 179605949 c.12011A>G p.E4004G missense 0.00002496●●●●●●
1621. 179605942 c.12018T>A p.S4006R missense 0.00000832●●●●●●
1622. 179605934 c.12026A>G p.Y4009C missense 0.00002495●●●●●●
1623. 179605924 c.12036A>C p.K4012N missense 0.00000831●●●●●●
1624. 179605913 c.12047T>C p.M4016T missense 0.00000831●●●●●●
1625. 179605912 c.12048G>A p.M4016I missense 0.00005815●●●●●●
1626. 179605911 c.12049T>G p.L4017V missense 0.00005816●●●●●●
1627. 179605898 c.12062C>G p.T4021S missense 0.00002491●●●●●●
1628. 179605889 c.12071delC p.Ala4024GlufsTer12 frameshift 0.00000830●●●●●●
1629. 179605878 c.12082G>A p.V4028M missense 0.00000830●●●●●●
1630. 179605878 c.12082G>C p.V4028L missense 0.00000830●●●●●●
1631. 179605869 c.12091G>C p.E4031Q missense 0.00000830●●●●●●
1632. 179605863 c.12097A>C p.T4033P missense 0.00000830●●●●●●
1633. 179605860 c.12100G>A p.D4034N missense 0.00000830●●●●●●
1634. 179605857 c.12103A>G p.M4035V missense 0.00001660●●●●●●
1635. 179605847 c.12113C>G p.T4038S missense 0.00000830●●●●●●
1636. 179605847 c.12113C>A p.T4038N missense 0.00001659●●●●●●
1637. 179605844 c.12116C>T p.P4039L missense 0.00000830●●●●●●
1638. 179605844 c.12116C>G p.P4039R missense 0.00000830●●●●●●
1639. 179605829 c.12131C>T p.S4044F missense 0.00009127●●●●●●
1640. 179605815 c.12145C>T p.P4049S missense 0.00048115●●●●●●
1641. 179605785 c.12175G>T p.G4059C missense 0.00000829●●●●●●
1642. 179605785 c.12175G>A p.G4059S missense 0.00000829●●●●●●
1643. 179605784 c.12176G>A p.G4059D missense 0.00000829●●●●●●
1644. 179605779 c.12181G>A p.A4061T missense 0.00017416●●●●●●
1645. 179605778 c.12182C>G p.A4061G missense 0.00000829●●●●●●
1646. 179605752 c.12208G>A p.E4070K missense 0.00000829●●●●●●
1647. 179605751 c.12209A>G p.E4070G missense 0.00000829●●●●●●
1648. 179605745 c.12215C>T p.A4072V missense 0.00001658●●●●●●
1649. 179605742 c.12218C>T p.T4073M missense 0.00004146●●●●●●
1650. 179605727 c.12233C>T p.T4078I missense 0.00118586●●●●●●
1651. 179605725 c.12235A>G p.I4079V missense 0.01788468●●●●●●
1652. 179605716 c.12244G>C p.A4082P missense 0.00001658●●●●●●
1653. 179605658 c.12302A>G p.N4101S missense 0.00000829●●●●●●
1654. 179605648 c.12312C>A p.S4104R missense 0.00000829●●●●●●
1655. 179605631 c.12329G>T p.G4110V missense 0.00000829●●●●●●
1656. 179605628 c.12332C>G p.A4111G missense 0.00010778●●●●●●
1657. 179605628 c.12332C>T p.A4111V missense 0.00001658●●●●●●
1658. 179605602 c.12358C>T p.Q4120X nonsense 0.00000829●●●●●●
1659. 179605599 c.12361G>C p.D4121H missense 0.00001658●●●●●●
1660. 179605587 c.12373C>T p.P4125S missense 0.00000829●●●●●●
1661. 179605586 c.12374C>G p.P4125R missense 0.00000829●●●●●●
1662. 179605571 c.12389A>T p.E4130V missense 0.00000829●●●●●●
1663. 179605569 c.12391T>A p.F4131I missense 0.00000829●●●●●●
1664. 179605569 c.12391T>C p.F4131L missense 0.00003315●●●●●●
1665. 179605566 c.12394C>G p.L4132V missense 0.00000829●●●●●●
1666. 179605562 c.12398G>T p.C4133F missense 0.00000829●●●●●●
1667. 179605559 c.12401T>A p.I4134N missense 0.00016574●●●●●●
1668. 179605556 c.12404A>G p.N4135S missense 0.00005800●●●●●●
1669. 179605556 c.12404A>T p.N4135I missense 0.00000829●●●●●●
1670. 179605555 c.12405T>G p.N4135K missense 0.00000829●●●●●●
1671. 179605551 c.12409A>G p.S4137G missense 0.00000829●●●●●●
1672. 179605548 c.12412A>G p.I4138V missense 0.00001657●●●●●●
1673. 179605544 c.12416A>G p.H4139R missense 0.00004972●●●●●●
1674. 179605526 c.12434A>C p.E4145A missense 0.00001658●●●●●●
1675. 179605514 c.12446A>G p.N4149S missense 0.00000829●●●●●●
1676. 179605499 c.12461T>A p.I4154N missense 0.00000829●●●●●●
1677. 179605490 c.12470C>T p.S4157F missense 0.00001658●●●●●●
1678. 179605488 c.12472C>G p.Q4158E missense 0.00000829●●●●●●
1679. 179605482 c.12478A>G p.T4160A missense 0.00000829●●●●●●
1680. 179605481 c.12479C>A p.T4160N missense 0.00001658●●●●●●
1681. 179605467 c.12493G>A p.G4165S missense 0.00010781●●●●●●
1682. 179605416 c.12544G>A p.E4182K missense 0.00004975●●●●●●
1683. 179605413 c.12547A>G p.K4183E missense 0.00014926●●●●●●
1684. 179605404 c.12556C>T p.P4186S missense 0.00000829●●●●●●
1685. 179605403 c.12557C>T p.P4186L missense 0.00000829●●●●●●
1686. 179605401 c.12559A>C p.S4187R missense 0.00000829●●●●●●
1687. 179605400 c.12560G>A p.S4187N missense 0.00000829●●●●●●
1688. 179605395 c.12565A>G p.M4189V missense 0.00003317●●●●●●
1689. 179605394 c.12566T>C p.M4189T missense 0.00000829●●●●●●
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1700. 179605280 c.12680C>T p.T4227I missense 0.00000830●●●●●●
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1703. 179605217 c.12743A>C p.Q4248P missense 0.00001663●●●●●●
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1705. 179605212 c.12748G>A p.V4250M missense 0.00084840●●●●●●
1706. 179605181 c.12779C>T p.A4260V missense 0.00001665●●●●●●
1707. 179605163 c.12797G>T p.S4266I missense 0.00000834●●●●●●
1708. 179605159 c.12801A>T p.L4267F missense 0.00002503●●●●●●
1709. 179605147 c.12813C>G p.H4271Q missense 0.00000835●●●●●●
1710. 179605146 c.12814G>A p.V4272M missense 0.00006679●●●●●●
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1714. 179605125 c.12835G>A p.D4279N missense 0.00000835●●●●●●
1715. 179605117 c.12843G>T p.M4281I missense 0.00000835●●●●●●
1716. 179605116 c.12844A>C p.I4282L missense 0.00006678●●●●●●
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1718. 179605100 c.12860A>G p.Y4287C missense 0.00000834●●●●●●
1719. 179605086 c.12874C>T p.P4292S missense 0.00000833●●●●●●
1720. 179605085 c.12875C>T p.P4292L missense 0.00003333●●●●●●
1721. 179605077 c.12883C>T p.H4295Y missense 0.00002498●●●●●●
1722. 179605071 c.12889T>G p.C4297G missense 0.00007491●●●●●●
1723. 179605062 c.12898G>A p.G4300R missense 0.00000832●●●●●●
1724. 179605050 c.12910T>A p.L4304M missense 0.00000831●●●●●●
1725. 179605048 c.12912G>T p.L4304F missense 0.00001663●●●●●●
1726. 179605044 c.12916G>A p.E4306K missense 0.00000831●●●●●●
1727. 179605044 c.12916G>C p.E4306Q missense 0.00000831●●●●●●
1728. 179605005 c.12955G>A p.A4319T missense 0.00058896●●●●●●
1729. 179604995 c.12965T>C p.I4322T missense 0.00000829●●●●●●
1730. 179604974 c.12986G>A p.R4329K missense 0.00038986●●●●●●
1731. 179604972 c.12988T>C p.F4330L missense 0.00001659●●●●●●
1732. 179604965 c.12995T>C p.L4332P missense 0.00000830●●●●●●
1733. 179604960 c.13000C>G p.L4334V missense 0.00000830●●●●●●
1734. 179604919 c.13041C>A p.D4347E missense 0.00000830●●●●●●
1735. 179604915 c.13045G>A p.V4349M missense 0.00000830●●●●●●
1736. 179604912 c.13048G>A p.V4350M missense 0.00003320●●●●●●
1737. 179604907 c.13053G>A p.M4351I missense 0.00000830●●●●●●
1738. 179604906 c.13054C>T p.P4352S missense 0.00000830●●●●●●
1739. 179604905 c.13055C>A p.P4352H missense 0.00000830●●●●●●
1740. 179604905 c.13055C>T p.P4352L missense 0.00000830●●●●●●
1741. 179604888 c.13072G>A p.E4358K missense 0.00000830●●●●●●
1742. 179604870 c.13090G>A p.V4364M missense 0.00004150●●●●●●
1743. 179604832 c.13128C>A p.D4376E missense 0.00002491●●●●●●
1744. 179604830 c.13130T>C p.L4377P missense 0.00000830●●●●●●
1745. 179604825 c.13135dupT p.Ser4379PhefsTer2 frameshift 0.00000830●●●●●●
1746. 179604819 c.13141G>C p.E4381Q missense 0.00000830●●●●●●
1747. 179604816 c.13144A>G p.S4382G missense 0.00000830●●●●●●
1748. 179604815 c.13145G>T p.S4382I missense 0.00000830●●●●●●
1749. 179604804 c.13156G>A p.G4386S missense 0.00000831●●●●●●
1750. 179604766 c.13194A>T p.Q4398H missense 0.00003321●●●●●●
1751. 179604758 c.13202G>A p.R4401Q missense 0.00052295●●●●●●
1752. 179604755 c.13205C>T p.A4402V missense 0.00001660●●●●●●
1753. 179604741 c.13219G>A p.V4407M missense 0.00000829●●●●●●
1754. 179604733 c.13227C>A p.S4409R missense 0.00000829●●●●●●
1755. 179604732 c.13228G>A p.E4410K missense 0.00005805●●●●●●
1756. 179604706 c.13254G>T p.W4418C missense 0.00000829●●●●●●
1757. 179604698 c.13262A>G p.N4421S missense 0.00009117●●●●●●
1758. 179604695 c.13265T>G p.I4422S missense 0.00007460●●●●●●
1759. 179604687 c.13273G>T p.V4425L missense 0.00000829●●●●●●
1760. 179604680 c.13280T>C p.V4427A missense 0.00001658●●●●●●
1761. 179604678 c.13282G>A p.E4428K missense 0.00003315●●●●●●
1762. 179604641 c.13319T>C p.M4440T missense 0.00000829●●●●●●
1763. 179604640 c.13320G>A p.M4440I missense 0.00000829●●●●●●
1764. 179604636 c.13324A>G p.M4442V missense 0.00001657●●●●●●
1765. 179604635 c.13325T>C p.M4442T missense 0.00001657●●●●●●
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1767. 179604620 c.13340C>T p.S4447L missense 0.00001657●●●●●●
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1769. 179604618 c.13342G>A p.A4448T missense 0.00000829●●●●●●
1770. 179604599 c.13361A>G p.E4454G missense 0.00001657●●●●●●
1771. 179604588 c.13372A>G p.I4458V missense 0.00000828●●●●●●
1772. 179604584 c.13376T>C p.I4459T missense 0.00006628●●●●●●
1773. 179604555 c.13405C>G p.L4469V missense 0.00002486●●●●●●
1774. 179604548 c.13412T>A p.M4471K missense 0.00000829●●●●●●
1775. 179604539 c.13421G>C p.R4474T missense 0.00000829●●●●●●
1776. 179604525 c.13435G>A p.A4479T missense 0.00000829●●●●●●
1777. 179604522 c.13438A>G p.I4480V missense 0.00004971●●●●●●
1778. 179604519 c.13441A>G p.I4481V missense 0.00000829●●●●●●
1779. 179604513 c.13447G>A p.E4483K missense 0.00000829●●●●●●
1780. 179604492 c.13468G>A p.A4490T missense 0.00000828●●●●●●
1781. 179604465 c.13495G>A p.A4499T missense 0.00000828●●●●●●
1782. 179604465 c.13495G>T p.A4499S missense 0.00000828●●●●●●
1783. 179604464 c.13496C>T p.A4499V missense 0.00000829●●●●●●
1784. 179604464 c.13496C>A p.A4499D missense 0.00000829●●●●●●
1785. 179604461 c.13499A>G p.K4500R missense 0.00002486●●●●●●
1786. 179604459 c.13501A>G p.T4501A missense 0.00000829●●●●●●
1787. 179604451 c.13509G>T p.L4503F missense 0.00000829●●●●●●
1788. 179604450 c.13510C>A p.Q4504K missense 0.00000829●●●●●●
1789. 179604446 c.13514A>G p.E4505G missense 0.00000829●●●●●●
1790. 179604440 c.13520T>C p.M4507T missense 0.00032314●●●●●●
1791. 179604439 c.13521G>A p.M4507I missense 0.00000829●●●●●●
1792. 179604415 c.13545G>C p.K4515N missense 0.00000829●●●●●●
1793. 179604415 c.13545G>T p.K4515N missense 0.00000829●●●●●●
1794. 179604411 c.13549G>A p.E4517K missense 0.00000829●●●●●●
1795. 179604410 c.13550A>G p.E4517G missense 0.00000829●●●●●●
1796. 179604375 c.13585C>G p.L4529V missense 0.00000830●●●●●●
1797. 179604372 c.13588A>T p.I4530F missense 0.00000829●●●●●●
1798. 179604366 c.13594A>C p.T4532P missense 0.07227376●●●●●●
1799. 179604357 c.13603G>T p.V4535F missense 0.00007468●●●●●●
1800. 179604357 c.13603G>A p.V4535I missense 0.00000830●●●●●●
1801. 179604342 c.13618G>A p.V4540M missense 0.00004149●●●●●●
1802. 179604336 c.13624A>G p.S4542G missense 0.00000830●●●●●●
1803. 179604306 c.13654G>T p.V4552F missense 0.00001660●●●●●●
1804. 179604303 c.13657A>G p.T4553A missense 0.00000830●●●●●●
1805. 179604294 c.13666G>T p.V4556F missense 0.00002489●●●●●●
1806. 179604293 c.13667T>C p.V4556A missense 0.00000830●●●●●●
1807. 179604274 c.13686delT p.Asp4563ThrfsTer8 frameshift 0.00000830●●●●●●
1808. 179604270 c.13690G>A p.E4564K missense 0.00000830●●●●●●
1809. 179604264 c.13696C>T p.Q4566X nonsense 0.00000829●●●●●●
1810. 179604262 c.13698A>C p.Q4566H missense 0.00000829●●●●●●
1811. 179604260 c.13700A>G p.D4567G missense 0.00001659●●●●●●
1812. 179604259 c.13701T>G p.D4567E missense 0.00005805●●●●●●
1813. 179604258 c.13702G>A p.E4568K missense 0.00001659●●●●●●
1814. 179604255 c.13705_13706delAG p.Leu4570GlufsTer12 frameshift 0.00000829●●●●●●
1815. 179604254 c.13706G>A p.S4569N missense 0.00115286●●●●●●
1816. 179604243 c.13717T>C p.S4573P missense 0.00000829●●●●●●
1817. 179604242 c.13718C>T p.S4573L missense 0.00009951●●●●●●
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1820. 179604228 c.13732_13734delGAG p.Glu4578del inframe 0.00000829●●●●●●
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1822. 179604219 c.13741T>C p.S4581P missense 0.00000829●●●●●●
1823. 179604206 c.13754C>T p.T4585I missense 0.00000829●●●●●●
1824. 179604191 c.13769C>T p.T4590I missense 0.00002487●●●●●●
1825. 179604170 c.13790A>C p.E4597A missense 0.00000829●●●●●●
1826. 179604168 c.13792G>C p.G4598R missense 0.00000829●●●●●●
1827. 179604160 c.13800A>C p.L4600F missense 0.07225549●●●●●●
1828. 179604143 c.13817C>G p.P4606R missense 0.00000829●●●●●●
1829. 179604141 c.13819A>G p.M4607V missense 0.00014100●●●●●●
1830. 179604132 c.13828A>G p.T4610A missense 0.00000829●●●●●●
1831. 179604131 c.13829C>G p.T4610R missense 0.00002488●●●●●●
1832. 179604123 c.13837G>A p.V4613M missense 0.00000830●●●●●●
1833. 179604122 c.13838T>C p.V4613A missense 0.00000829●●●●●●
1834. 179604117 c.13843A>G p.T4615A missense 0.00000830●●●●●●
1835. 179604101 c.13859G>A p.G4620D missense 0.00443139●●●●●●
1836. 179604101 c.13859G>T p.G4620V missense 0.00000830●●●●●●
1837. 179604095 c.13865T>C p.I4622T missense 0.00000830●●●●●●
1838. 179604075 c.13885A>G p.I4629V missense 0.00000831●●●●●●
1839. 179604071 c.13889C>T p.T4630I missense 0.00000831●●●●●●
1840. 179604063 c.13897A>G p.K4633E missense 0.00004993●●●●●●
1841. 179604062 c.13898A>T p.K4633I missense 0.00010819●●●●●●
1842. 179604053 c.13907A>G p.N4636S missense 0.00003335●●●●●●
1843. 179604045 c.13915T>A p.F4639I missense 0.00000835●●●●●●
1844. 179604036 c.13924A>G p.K4642E missense 0.00001676●●●●●●
1845. 179604020 c.13940A>G p.D4647G missense 0.00001691●●●●●●
1846. 179604017 c.13943_13947dupAAAAG p.Phe4650LysfsTer14 frameshift 0.00000850●●●●●●
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1848. 179603991 c.13969A>C p.N4657H missense 0.00321098●●●●●●
1849. 179603987 c.13973C>T p.T4658I missense 0.00000885●●●●●●
1850. 179603985 c.13975T>C p.Y4659H missense 0.00000888●●●●●●
1851. 179603984 c.13976A>G p.Y4659C missense 0.00121825●●●●●●
1852. 179603981 c.13979C>T p.T4660M missense 0.00000897●●●●●●
1853. 179603970 c.13990G>A p.D4664N missense 0.00000924●●●●●●
1854. 179603958 c.14002A>G p.T4668A missense 0.00005594●●●●●●
1855. 179603955 c.14005G>A p.E4669K missense 0.00006556●●●●●●
1856. 179603945 c.14015A>G p.Q4672R missense 0.00000940●●●●●●
1857. 179603942 c.14018G>A p.G4673E missense 0.00001884●●●●●●
1858. 179603938 c.14022G>T p.E4674D missense 0.00000943●●●●●●
1859. 179603938 c.14022G>C p.E4674D missense 0.00000943●●●●●●
1860. 179603936 c.14024A>G p.Y4675C missense 0.00001887●●●●●●
1861. 179603927 c.14033A>C p.E4678A missense 0.00003788●●●●●●
1862. 179603910 c.14050G>A p.G4684R missense 0.00005742●●●●●●
1863. 179603894 c.14066C>T p.S4689L missense 0.00001940●●●●●●
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1900. 179602841 c.14339G>A p.S4780N missense 0.00013320●●●●●●
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1911. 179600773 c.14400A>T p.R4800S missense 0.00000875●●●●●●
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1913. 179600765 c.14408C>T p.S4803F missense 0.00001736●●●●●●
1914. 179600748 c.14425G>A p.G4809S missense 0.00002557●●●●●●
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1917. 179600744 c.14429A>G p.K4810R missense 0.00000849●●●●●●
1918. 179600742 c.14431G>A p.A4811T missense 0.00000848●●●●●●
1919. 179600714 c.14459G>A p.G4820E missense 0.00004165●●●●●●
1920. 179600709 c.14464C>T p.P4822S missense 0.00002496●●●●●●
1921. 179600703 c.14470A>G p.I4824V missense 0.00000831●●●●●●
1922. 179600699 c.14474A>C p.E4825A missense 0.00000830●●●●●●
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1925. 179600682 c.14491G>T p.D4831Y missense 0.00001659●●●●●●
1926. 179600673 c.14500G>T p.A4834S missense 0.00000829●●●●●●
1927. 179600660 c.14513C>T p.S4838L missense 0.00000829●●●●●●
1928. 179600655 c.14518A>C p.N4840H missense 0.00007463●●●●●●
1929. 179600654 c.14519A>C p.N4840T missense 0.00001658●●●●●●
1930. 179600648 c.14525G>A p.R4842K missense 0.09585600●●●●●●
1931. 179600640 c.14533G>A p.D4845N missense 0.00014927●●●●●●
1932. 179600637 c.14536G>A p.A4846T missense 0.00002488●●●●●●
1933. 179600624 c.14549A>T p.H4850L missense 0.00000829●●●●●●
1934. 179600591 c.14582A>T p.D4861V missense 0.00007469●●●●●●
1935. 179600585 c.14588G>A p.G4863E missense 0.00001660●●●●●●
1936. 179600568 c.14605G>C p.A4869P missense 0.00000830●●●●●●
1937. 179600557 c.14616G>C p.K4872N missense 0.00000832●●●●●●
1938. 179600549 c.14624C>G p.A4875G missense 0.00003328●●●●●●
1939. 179600544 c.14629A>C p.I4877L missense 0.00001664●●●●●●
1940. 179600540 c.14633G>A p.C4878Y missense 0.00004161●●●●●●
1941. 179600534 c.14639C>T p.A4880V missense 0.00004993●●●●●●
1942. 179600532 c.14641G>C p.E4881Q missense 0.00000832●●●●●●
1943. 179600530 c.14643G>C p.E4881D missense 0.00000832●●●●●●
1944. 179600514 c.14659A>C p.K4887Q missense 0.00000832●●●●●●
1945. 179600511 c.14662C>G p.P4888A missense 0.00003329●●●●●●
1946. 179600507 c.14666A>G p.H4889R missense 0.00000832●●●●●●
1947. 179600494 c.14679A>T p.E4893D missense 0.00000832●●●●●●
1948. 179600489 c.14684A>G p.E4895G missense 0.00000832●●●●●●
1949. 179600480 c.14693A>G p.Q4898R missense 0.00000832●●●●●●
1950. 179600475 c.14698G>A p.A4900T missense 0.00341936●●●●●●
1951. 179600474 c.14699C>T p.A4900V missense 0.00009980●●●●●●
1952. 179600460 c.14713G>A p.V4905I missense 0.00000831●●●●●●
1953. 179600427 c.14746A>G p.K4916E missense 0.00006649●●●●●●
1954. 179600420 c.14753C>T p.T4918I missense 0.00000831●●●●●●
1955. 179600420 c.14753_14754delCA p.Thr4918SerfsTer17 frameshift 0.00000831●●●●●●
1956. 179600414 c.14759C>T p.T4920M missense 0.00004988●●●●●●
1957. 179600412 c.14761T>C p.W4921R missense 0.00000831●●●●●●
1958. 179600408 c.14765G>A p.S4922N missense 0.00421481●●●●●●
1959. 179600396 c.14777A>C p.Q4926P missense 0.00000832●●●●●●
1960. 179600392 c.14781A>C p.K4927N missense 0.00001664●●●●●●
1961. 179600392 c.14781_14782insA p.Leu4928ThrfsTer8 frameshift 0.00000832●●●●●●
1962. 179600391 c.14782C>T p.L4928F missense 0.00000832●●●●●●
1963. 179600385 c.14788C>A p.P4930T missense 0.00012486●●●●●●
1964. 179600385 c.14788C>G p.P4930A missense 0.00005827●●●●●●
1965. 179600382 c.14791G>C p.G4931R missense 0.00000832●●●●●●
1966. 179600370 c.14803A>G p.K4935E missense 0.00000834●●●●●●
1967. 179600360 c.14813T>C p.F4938S missense 0.00005850●●●●●●
1968. 179600355 c.14818G>A p.D4940N missense 0.00000837●●●●●●
1969. 179600348 c.14825T>C p.I4942T missense 0.00000840●●●●●●
1970. 179600345 c.14828C>A p.A4943E missense 0.00009262●●●●●●
1971. 179600319 c.14854C>A p.L4952M missense 0.00000861●●●●●●
1972. 179600307 c.14866G>C p.G4956R missense 0.00000873●●●●●●
1973. 179600306 c.14867G>A p.G4956E missense 0.00001749●●●●●●
1974. 179600304 c.14869A>C p.T4957P missense 0.00007895●●●●●●
1975. 179600303 c.14870C>G p.T4957S missense 0.00315272●●●●●●
1976. 179600303 c.14870C>T p.T4957I missense 0.00000878●●●●●●
1977. 179600300 c.14873A>G p.Y4958C missense 0.00002648●●●●●●
1978. 179600299 c.14874T>G p.Y4958X nonsense 0.00000885●●●●●●
1979. 179600286 c.14887T>C p.S4963P missense 0.00000910●●●●●●
1980. 179600267 c.14906G>A p.S4969N missense 0.00000977●●●●●●
1981. 179600262 c.14911T>G p.C4971G missense 0.00047736●●●●●●
1982. 179600241 c.14932A>G p.R4978G missense 0.00003418●●●●●●
1983. 179600229 c.14935+9C>T splice site 0.00005243●●●●●●
1984. 179600228 c.14935+10G>A splice site 0.00004025●●●●●●
1985. 179599721 c.14936-6A>G splice site 0.00002728●●●●●●
1986. 179599720 c.14936-5T>C splice site 0.00002668●●●●●●
1987. 179599719 c.14936-4G>T splice site 0.00005209●●●●●●
1988. 179599697 c.14954A>C p.K4985T missense 0.00012074●●●●●●
1989. 179599686 c.14965C>A p.P4989T missense 0.00003014●●●●●●
1990. 179599668 c.14983C>T p.P4995S missense 0.00002579●●●●●●
1991. 179599667 c.14984C>G p.P4995R missense 0.01061990●●●●●●
1992. 179599661 c.14990A>G p.E4997G missense 0.00002393●●●●●●
1993. 179599653 c.14998C>T p.R5000C missense 0.00013400●●●●●●
1994. 179599652 c.14999G>A p.R5000H missense 0.00002227●●●●●●
1995. 179599650 c.15001C>G p.L5001V missense 0.00002178●●●●●●
1996. 179599643 c.15008G>A p.C5003Y missense 0.00004154●●●●●●
1997. 179599611 c.15040A>T p.T5014S missense 0.00012241●●●●●●
1998. 179599611 c.15040A>G p.T5014A missense 0.00007869●●●●●●
1999. 179599605 c.15046T>C p.F5016L missense 0.00000862●●●●●●
2000. 179599590 c.15061G>A p.E5021K missense 0.00000839●●●●●●
2001. 179599588 c.15063A>C p.E5021D missense 0.00001678●●●●●●
2002. 179599581 c.15070G>A p.E5024K missense 0.00005837●●●●●●
2003. 179599571 c.15080C>T p.T5027I missense 0.00001663●●●●●●
2004. 179599565 c.15086G>A p.R5029Q missense 0.00019108●●●●●●
2005. 179599561 c.15090G>A p.M5030I missense 0.00000830●●●●●●
2006. 179599555 c.15096delT p.Phe5032LeufsTer13 frameshift 0.00000830●●●●●●
2007. 179599550 c.15101A>G p.N5034S missense 0.00000830●●●●●●
2008. 179599530 c.15121A>G p.I5041V missense 0.00001659●●●●●●
2009. 179599529 c.15122T>G p.I5041S missense 0.00001659●●●●●●
2010. 179599507 c.15144C>G p.D5048E missense 0.00001658●●●●●●
2011. 179599485 c.15166G>A p.A5056T missense 0.00000829●●●●●●
2012. 179599478 c.15173A>G p.N5058S missense 0.00001660●●●●●●
2013. 179599476 c.15175G>A p.D5059N missense 0.00004980●●●●●●
2014. 179599473 c.15178G>C p.V5060L missense 0.00351416●●●●●●
2015. 179599473 c.15178G>A p.V5060I missense 0.00273324●●●●●●
2016. 179599467 c.15184A>G p.S5062G missense 0.00000833●●●●●●
2017. 179599466 c.15185G>A p.S5062N missense 0.00009168●●●●●●
2018. 179599455 c.15196A>G p.S5066G missense 0.00001680●●●●●●
2019. 179599440 c.15211A>G p.I5071V missense 0.00001713●●●●●●
2020. 179599426 c.15217+8T>C splice site 0.00000873●●●●●●
2021. 179599328 c.15223C>G p.P5075A missense 0.00000903●●●●●●
2022. 179599320 c.15231C>G p.F5077L missense 0.00000901●●●●●●
2023. 179599312 c.15239C>T p.T5080I missense 0.00000896●●●●●●
2024. 179599300 c.15251C>A p.A5084E missense 0.00000889●●●●●●
2025. 179599298 c.15253G>A p.D5085N missense 0.00000886●●●●●●
2026. 179599292 c.15259G>A p.V5087M missense 0.00000881●●●●●●
2027. 179599288 c.15263G>A p.R5088K missense 0.00000878●●●●●●
2028. 179599285 c.15266G>T p.G5089V missense 0.00000874●●●●●●
2029. 179599282 c.15269C>A p.T5090K missense 0.00000871●●●●●●
2030. 179599277 c.15274G>A p.A5092T missense 0.00001737●●●●●●
2031. 179599274 c.15277C>G p.L5093V missense 0.00002595●●●●●●
2032. 179599264 c.15287G>A p.C5096Y missense 0.00000860●●●●●●
2033. 179599252 c.15299G>A p.G5100D missense 0.00000851●●●●●●
2034. 179599231 c.15320G>T p.S5107I missense 0.00000836●●●●●●
2035. 179599204 c.15347G>A p.R5116Q missense 0.00000830●●●●●●
2036. 179599199 c.15352A>C p.S5118R missense 0.00000830●●●●●●
2037. 179599198 c.15353G>C p.S5118T missense 0.00000830●●●●●●
2038. 179599186 c.15365G>A p.R5122K missense 0.00000829●●●●●●
2039. 179599182 c.15369G>C p.L5123F missense 0.00000829●●●●●●
2040. 179599168 c.15383C>T p.S5128F missense 0.00002487●●●●●●
2041. 179599163 c.15388G>A p.V5130M missense 0.00000829●●●●●●
2042. 179599159 c.15392G>A p.C5131Y missense 0.00000829●●●●●●
2043. 179599144 c.15407C>T p.S5136L missense 0.00000829●●●●●●
2044. 179599132 c.15419C>T p.A5140V missense 0.00000830●●●●●●
2045. 179599091 c.15460G>A p.G5154S missense 0.00000846●●●●●●
2046. 179599073 c.15478G>A p.A5160T missense 0.00000866●●●●●●
2047. 179599066 c.15485A>G p.H5162R missense 0.00000874●●●●●●
2048. 179599057 c.15494A>G p.K5165R missense 0.00002649●●●●●●
2049. 179599048 c.15496+7G>T splice site 0.00000896●●●●●●
2050. 179598616 c.15500C>T p.P5167L missense 0.00000882●●●●●●
2051. 179598610 c.15506C>G p.T5169S missense 0.00000870●●●●●●
2052. 179598605 c.15511G>C p.V5171L missense 0.00000863●●●●●●
2053. 179598574 c.15542G>C p.G5181A missense 0.00039176●●●●●●
2054. 179598563 c.15553G>A p.V5185I missense 0.00006644●●●●●●
2055. 179598553 c.15563A>C p.Q5188P missense 0.00090410●●●●●●
2056. 179598536 c.15580T>A p.S5194T missense 0.00000829●●●●●●
2057. 179598532 c.15584A>G p.E5195G missense 0.00084514●●●●●●
2058. 179598511 c.15605T>C p.M5202T missense 0.00000828●●●●●●
2059. 179598511 c.15605T>A p.M5202K missense 0.00000828●●●●●●
2060. 179598482 c.15634G>A p.G5212R missense 0.00001657●●●●●●
2061. 179598475 c.15641T>A p.I5214N missense 0.00000828●●●●●●
2062. 179598461 c.15655T>C p.S5219P missense 0.00000828●●●●●●
2063. 179598457 c.15659A>G p.N5220S missense 0.00004141●●●●●●
2064. 179598454 c.15662G>A p.G5221D missense 0.00000828●●●●●●
2065. 179598449 c.15667G>A p.A5223T missense 0.00000828●●●●●●
2066. 179598446 c.15670G>T p.V5224F missense 0.00001656●●●●●●
2067. 179598430 c.15686A>C p.D5229A missense 0.00000828●●●●●●
2068. 179598428 c.15688G>A p.V5230I missense 0.00000828●●●●●●
2069. 179598409 c.15707G>A p.G5236D missense 0.00000829●●●●●●
2070. 179598400 c.15716C>T p.T5239M missense 0.00000829●●●●●●
2071. 179598400 c.15716C>A p.T5239K missense 0.00000829●●●●●●
2072. 179598392 c.15724G>A p.A5242T missense 0.00000829●●●●●●
2073. 179598385 c.15731A>G p.N5244S missense 0.00000829●●●●●●
2074. 179598376 c.15740G>A p.G5247E missense 0.00000831●●●●●●
2075. 179598367 c.15749C>T p.T5250I missense 0.00004992●●●●●●
2076. 179598364 c.15752C>G p.S5251C missense 0.00000833●●●●●●
2077. 179598252 c.15776-8C>T splice site 0.00000839●●●●●●
2078. 179598249 c.15776-5T>G splice site 0.00000838●●●●●●
2079. 179598249 c.15776-5T>C splice site 0.00000838●●●●●●
2080. 179598242 c.15778C>A p.P5260T missense 0.00000837●●●●●●
2081. 179598235 c.15785A>G p.K5262R missense 0.00000835●●●●●●
2082. 179598232 c.15788T>A p.I5263N missense 0.00004170●●●●●●
2083. 179598229 c.15791T>C p.I5264T missense 0.00001666●●●●●●
2084. 179598224 c.15796C>T p.R5266X nonsense 0.00000832●●●●●●
2085. 179598206 c.15814G>A p.V5272M missense 0.00001660●●●●●●
2086. 179598188 c.15832G>A p.A5278T missense 0.00001660●●●●●●
2087. 179598185 c.15835A>G p.T5279A missense 0.00000829●●●●●●
2088. 179598170 c.15850G>A p.V5284M missense 0.00108602●●●●●●
2089. 179598160 c.15860C>T p.T5287M missense 0.00033161●●●●●●
2090. 179598142 c.15878A>G p.K5293R missense 0.00001658●●●●●●
2091. 179598136 c.15884A>G p.Y5295C missense 0.00000829●●●●●●
2092. 179598124 c.15896G>C p.R5299T missense 0.00010779●●●●●●
2093. 179598113 c.15907G>A p.A5303T missense 0.00004976●●●●●●
2094. 179598097 c.15923G>A p.R5308Q missense 0.00004977●●●●●●
2095. 179598095 c.15925A>G p.I5309V missense 0.00000829●●●●●●
2096. 179598094 c.15926T>A p.I5309K missense 0.00000829●●●●●●
2097. 179598087 c.15933T>G p.F5311L missense 0.00000829●●●●●●
2098. 179598080 c.15940A>G p.N5314D missense 0.00009125●●●●●●
2099. 179598068 c.15952delC p.Leu5318SerfsTer34 frameshift 0.00000830●●●●●●
2100. 179598064 c.15956A>C p.K5319T missense 0.00000830●●●●●●
2101. 179598055 c.15965C>T p.S5322L missense 0.00001661●●●●●●
2102. 179598053 c.15967G>A p.A5323T missense 0.00000831●●●●●●
2103. 179598034 c.15986G>A p.G5329D missense 0.00046044●●●●●●
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2105. 179598010 c.16010A>G p.N5337S missense 0.00004277●●●●●●
2106. 179598002 c.16018G>A p.G5340S missense 0.00000867●●●●●●
2107. 179597992 c.16028C>T p.S5343F missense 0.00000881●●●●●●
2108. 179597857 c.16055-9A>C splice site 0.00041440●●●●●●
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2110. 179597846 c.16057C>T p.R5353X nonsense 0.00000895●●●●●●
2111. 179597846 c.16057C>A splice site 0.00001790●●●●●●
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2113. 179597843 c.16060G>C p.D5354H missense 0.00000892●●●●●●
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2115. 179597840 c.16063A>G p.I5355V missense 0.00001783●●●●●●
2116. 179597825 c.16078A>G p.T5360A missense 0.00000877●●●●●●
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2120. 179597803 c.16100A>G p.D5367G missense 0.00000858●●●●●●
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2122. 179597782 c.16121G>A p.C5374Y missense 0.00008419●●●●●●
2123. 179597777 c.16126C>A p.L5376M missense 0.00005038●●●●●●
2124. 179597770 c.16133G>A p.C5378Y missense 0.00000838●●●●●●
2125. 179597764 c.16139T>C p.I5380T missense 0.00001672●●●●●●
2126. 179597756 c.16147T>A p.S5383T missense 0.00000835●●●●●●
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2128. 179597750 c.16153C>G p.P5385A missense 0.00000835●●●●●●
2129. 179597746 c.16157T>C p.M5386T missense 0.00003338●●●●●●
2130. 179597743 c.16160G>C p.R5387T missense 0.00001669●●●●●●
2131. 179597737 c.16166C>T p.S5389F missense 0.00000834●●●●●●
2132. 179597724 c.16179T>A p.D5393E missense 0.00000834●●●●●●
2133. 179597717 c.16186G>A p.E5396K missense 0.00000834●●●●●●
2134. 179597691 c.16212G>C p.R5404S missense 0.00000834●●●●●●
2135. 179597687 c.16216G>A p.A5406T missense 0.00000834●●●●●●
2136. 179597683 c.16220T>C p.F5407S missense 0.00000834●●●●●●
2137. 179597671 c.16232C>T p.T5411I missense 0.00000834●●●●●●
2138. 179597669 c.16234G>A p.A5412T missense 0.00000834●●●●●●
2139. 179597662 c.16241T>C p.L5414S missense 0.00001668●●●●●●
2140. 179597660 c.16243G>A p.E5415K missense 0.00000834●●●●●●
2141. 179597651 c.16252A>G p.R5418G missense 0.00000834●●●●●●
2142. 179597645 c.16258G>A p.D5420N missense 0.00000835●●●●●●
2143. 179597637 c.16266T>A p.N5422K missense 0.00000835●●●●●●
2144. 179597626 c.16277A>T p.N5426I missense 0.00001674●●●●●●
2145. 179597626 c.16277A>G p.N5426S missense 0.00000837●●●●●●
2146. 179597624 c.16279T>G p.F5427V missense 0.00000837●●●●●●
2147. 179597614 c.16289G>A p.R5430Q missense 0.00001674●●●●●●
2148. 179597612 c.16291G>C p.A5431P missense 0.00002510●●●●●●
2149. 179597612 c.16291G>A p.A5431T missense 0.00001673●●●●●●
2150. 179597606 c.16297A>G p.N5433D missense 0.00000837●●●●●●
2151. 179597600 c.16303G>A p.V5435M missense 0.00563633●●●●●●
2152. 179597590 c.16313A>G p.K5438R missense 0.00076500●●●●●●
2153. 179597440 c.16348C>G p.P5450A missense 0.00000935●●●●●●
2154. 179597437 c.16351A>G p.S5451G missense 0.00003733●●●●●●
2155. 179597419 c.16369G>A p.G5457S missense 0.00001820●●●●●●
2156. 179597410 c.16378G>A p.D5460N missense 0.00000895●●●●●●
2157. 179597407 c.16381G>A p.V5461I missense 0.00000890●●●●●●
2158. 179597403 c.16385T>A p.L5462Q missense 0.00000882●●●●●●
2159. 179597401 c.16387C>A p.P5463T missense 0.00001761●●●●●●
2160. 179597401 c.16387C>T p.P5463S missense 0.00000881●●●●●●
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2280. 179596158 c.17335A>C p.T5779P missense 0.00000829●●●●●●
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2295. 179596063 c.17430A>G p.I5810M missense 0.00001657●●●●●●
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2299. 179596031 c.17461+1G>C essential splice site 0.00000830●●●●●●
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2304. 179595919 c.17473A>G p.I5825V missense 0.00001660●●●●●●
2305. 179595913 c.17479G>A p.E5827K missense 0.00005808●●●●●●
2306. 179595904 c.17488G>A p.V5830M missense 0.00001659●●●●●●
2307. 179595900 c.17492C>A p.S5831Y missense 0.00000829●●●●●●
2308. 179595892 c.17500G>A p.V5834I missense 0.00002486●●●●●●
2309. 179595885 c.17507A>G p.Q5836R missense 0.00000829●●●●●●
2310. 179595873 c.17519C>A p.A5840D missense 0.00004143●●●●●●
2311. 179595849 c.17543G>A p.G5848E missense 0.00021544●●●●●●
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2314. 179595829 c.17563A>T p.K5855X nonsense 0.00000829●●●●●●
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2320. 179595796 c.17596G>T p.G5866C missense 0.00009115●●●●●●
2321. 179595780 c.17612T>C p.I5871T missense 0.00001657●●●●●●
2322. 179595777 c.17615G>A p.S5872N missense 0.00000829●●●●●●
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2373. 179595292 c.17968A>G p.T5990A missense 0.00001658●●●●●●
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2375. 179595280 c.17980A>T p.T5994S missense 0.00000829●●●●●●
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2378. 179595259 c.18001C>G p.Q6001E missense 0.00000831●●●●●●
2379. 179595096 c.18031C>G p.P6011A missense 0.00000943●●●●●●
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2381. 179595095 c.18032C>T p.P6011L missense 0.00000942●●●●●●
2382. 179595090 c.18037T>C p.Y6013H missense 0.00004684●●●●●●
2383. 179595064 c.18063A>T p.Q6021H missense 0.00000922●●●●●●
2384. 179595063 c.18064G>A p.D6022N missense 0.00000922●●●●●●
2385. 179595056 c.18071A>G p.N6024S missense 0.00005509●●●●●●
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2393. 179594976 c.18151G>A p.E6051K missense 0.00000857●●●●●●
2394. 179594955 c.18172C>T p.R6058C missense 0.00010948●●●●●●
2395. 179594955 c.18172C>A p.R6058S missense 0.00001684●●●●●●
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2397. 179594954 c.18173G>T p.R6058L missense 0.00000842●●●●●●
2398. 179594945 c.18182G>T p.W6061L missense 0.00000840●●●●●●
2399. 179594937 c.18190G>C p.D6064H missense 0.00000838●●●●●●
2400. 179594930 c.18197C>T p.S6066F missense 0.00005865●●●●●●
2401. 179594901 c.18226G>T p.A6076S missense 0.00000838●●●●●●
2402. 179594897 c.18230C>A p.T6077N missense 0.00000838●●●●●●
2403. 179594895 c.18232G>A p.D6078N missense 0.00002515●●●●●●
2404. 179594883 c.18244T>A p.Y6082N missense 0.00001677●●●●●●
2405. 179594880 c.18247A>G p.I6083V missense 0.00002515●●●●●●
2406. 179594862 c.18265G>A p.D6089N missense 0.00007563●●●●●●
2407. 179594860 c.18267T>A p.D6089E missense 0.00003361●●●●●●
2408. 179594838 c.18289G>A p.A6097T missense 0.00000844●●●●●●
2409. 179594837 c.18290C>T p.A6097V missense 0.00000844●●●●●●
2410. 179594835 c.18292A>G p.T6098A missense 0.00000845●●●●●●
2411. 179594832 c.18295C>T p.L6099F missense 0.00003381●●●●●●
2412. 179594832 c.18295C>G p.L6099V missense 0.00000845●●●●●●
2413. 179594828 c.18299T>C p.F6100S missense 0.00000846●●●●●●
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2416. 179594653 c.18327G>T p.K6109N missense 0.00000906●●●●●●
2417. 179594648 c.18332C>A p.P6111H missense 0.00000897●●●●●●
2418. 179594634 c.18346G>A p.V6116M missense 0.00000873●●●●●●
2419. 179594621 c.18359G>C p.G6120A missense 0.00003437●●●●●●
2420. 179594606 c.18374T>C p.F6125S missense 0.00001695●●●●●●
2421. 179594601 c.18379T>G p.C6127G missense 0.00048901●●●●●●
2422. 179594573 c.18407G>A p.R6136Q missense 0.00042476●●●●●●
2423. 179594567 c.18413C>A p.S6138Y missense 0.00000832●●●●●●
2424. 179594553 c.18427G>A p.G6143R missense 0.00000831●●●●●●
2425. 179594535 c.18445A>G p.I6149V missense 0.00000830●●●●●●
2426. 179594522 c.18458G>A p.G6153D missense 0.00001659●●●●●●
2427. 179594517 c.18463T>G p.S6155A missense 0.00000829●●●●●●
2428. 179594510 c.18470T>C p.I6157T missense 0.00004146●●●●●●
2429. 179594495 c.18485C>T p.T6162I missense 0.00000829●●●●●●
2430. 179594478 c.18502G>A p.A6168T missense 0.00000829●●●●●●
2431. 179594447 c.18533G>A p.C6178Y missense 0.00000829●●●●●●
2432. 179594439 c.18541C>T p.R6181X nonsense 0.00000829●●●●●●
2433. 179594438 c.18542G>A p.R6181Q missense 0.00003314●●●●●●
2434. 179594430 c.18550G>A p.A6184T missense 0.00045577●●●●●●
2435. 179594423 c.18557C>T p.T6186M missense 0.00014088●●●●●●
2436. 179594423 c.18557C>G p.T6186R missense 0.00000829●●●●●●
2437. 179594420 c.18560C>T p.A6187V missense 0.00003315●●●●●●
2438. 179594418 c.18562A>G p.S6188G missense 0.00001658●●●●●●
2439. 179594410 c.18570C>A p.S6190R missense 0.00000829●●●●●●
2440. 179594408 c.18572T>C p.I6191T missense 0.00007463●●●●●●
2441. 179594403 c.18577C>T p.L6193F missense 0.00000829●●●●●●
2442. 179594394 c.18586A>G p.K6196E missense 0.00002489●●●●●●
2443. 179594391 c.18589G>C p.E6197Q missense 0.00000830●●●●●●
2444. 179594386 c.18589+5G>A splice site 0.00003319●●●●●●
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2447. 179594287 c.18596C>T p.P6199L missense 0.00000832●●●●●●
2448. 179594264 c.18619C>G p.P6207A missense 0.00000831●●●●●●
2449. 179594261 c.18622G>C p.V6208L missense 0.00000831●●●●●●
2450. 179594261 c.18622G>A p.V6208M missense 0.00001662●●●●●●
2451. 179594258 c.18625G>C p.E6209Q missense 0.00000831●●●●●●
2452. 179594255 c.18628G>A p.V6210I missense 0.00001662●●●●●●
2453. 179594251 c.18632T>C p.V6211A missense 0.00000831●●●●●●
2454. 179594237 c.18646G>A p.V6216M missense 0.00001661●●●●●●
2455. 179594230 c.18653T>G p.L6218R missense 0.00000830●●●●●●
2456. 179594228 c.18655G>A p.E6219K missense 0.00004152●●●●●●
2457. 179594224 c.18659G>C p.C6220S missense 0.00046494●●●●●●
2458. 179594220 c.18663A>C p.E6221D missense 0.00009961●●●●●●
2459. 179594206 c.18677C>T p.P6226L missense 0.00001660●●●●●●
2460. 179594203 c.18680C>T p.P6227L missense 0.00000830●●●●●●
2461. 179594188 c.18695G>T p.W6232L missense 0.00000830●●●●●●
2462. 179594178 c.18705T>A p.N6235K missense 0.00000830●●●●●●
2463. 179594177 c.18706A>G p.N6236D missense 0.00003322●●●●●●
2464. 179594174 c.18709A>T p.R6237W missense 0.00000830●●●●●●
2465. 179594164 c.18719G>A p.R6240Q missense 0.00012459●●●●●●
2466. 179594156 c.18727A>G p.K6243E missense 0.00000831●●●●●●
2467. 179594138 c.18745G>A p.D6249N missense 0.00033239●●●●●●
2468. 179594136 c.18747C>G p.D6249E missense 0.00001662●●●●●●
2469. 179594117 c.18766C>A p.L6256I missense 0.00000831●●●●●●
2470. 179594116 c.18767T>G p.L6256R missense 0.00001662●●●●●●
2471. 179594113 c.18770A>G p.H6257R missense 0.00001662●●●●●●
2472. 179594110 c.18773T>A p.I6258K missense 0.00000831●●●●●●
2473. 179594108 c.18775A>G p.T6259A missense 0.00013298●●●●●●
2474. 179594107 c.18776C>G p.T6259S missense 0.00298440●●●●●●
2475. 179594105 c.18778A>C p.K6260Q missense 0.00002494●●●●●●
2476. 179594098 c.18785A>G p.D6262G missense 0.00000832●●●●●●
2477. 179594096 c.18787C>T p.P6263S missense 0.00000832●●●●●●
2478. 179594090 c.18793G>C p.D6265H missense 0.00000832●●●●●●
2479. 179594087 c.18796A>G p.T6266A missense 0.00000832●●●●●●
2480. 179594059 c.18824A>G p.N6275S missense 0.00444541●●●●●●
2481. 179594051 c.18832G>A p.G6278S missense 0.00001680●●●●●●
2482. 179594046 c.18837C>G p.S6279R missense 0.00000843●●●●●●
2483. 179594044 c.18839G>C p.C6280S missense 0.00000845●●●●●●
2484. 179594036 c.18847A>G p.S6283G missense 0.00001702●●●●●●
2485. 179594027 c.18856G>A p.V6286I missense 0.00058440●●●●●●
2486. 179594021 c.18862C>G p.L6288V missense 0.00000866●●●●●●
2487. 179593895 c.18870A>G splice site 0.00001852●●●●●●
2488. 179593894 c.18871C>A p.P6291T missense 0.00001853●●●●●●
2489. 179593872 c.18893T>C p.I6298T missense 0.00005519●●●●●●
2490. 179593872 c.18893T>G p.I6298R missense 0.00000920●●●●●●
2491. 179593863 c.18902C>G p.T6301S missense 0.00000914●●●●●●
2492. 179593828 c.18937A>G p.S6313G missense 0.00000885●●●●●●
2493. 179593827 c.18938G>C p.S6313T missense 0.00078795●●●●●●
2494. 179593822 c.18943G>A p.V6315M missense 0.00000883●●●●●●
2495. 179593810 c.18955C>T p.P6319S missense 0.00000874●●●●●●
2496. 179593807 c.18958_18960delCCT p.Pro6320del inframe 0.00000870●●●●●●
2497. 179593804 c.18961A>G p.I6321V missense 0.00050479●●●●●●
2498. 179593780 c.18985G>A p.D6329N missense 0.00001727●●●●●●
2499. 179593779 c.18986A>T p.D6329V missense 0.00000862●●●●●●
2500. 179593763 c.19002A>C p.E6334D missense 0.00000859●●●●●●
2501. 179593761 c.19004A>G p.D6335G missense 0.00296061●●●●●●
2502. 179593758 c.19007A>G p.D6336G missense 0.00000858●●●●●●
2503. 179593749 c.19016A>G p.Y6339C missense 0.00011969●●●●●●
2504. 179593733 c.19032C>G p.D6344E missense 0.00001705●●●●●●
2505. 179593729 c.19036G>A p.V6346M missense 0.00002554●●●●●●
2506. 179593711 c.19054A>G p.R6352G missense 0.00002542●●●●●●
2507. 179593705 c.19060G>A p.V6354M missense 0.00000846●●●●●●
2508. 179593702 c.19063G>T p.D6355Y missense 0.00019444●●●●●●
2509. 179593702 c.19063G>C p.D6355H missense 0.00000845●●●●●●
2510. 179593698 c.19067A>T p.N6356I missense 0.00000845●●●●●●
2511. 179593695 c.19070G>T p.G6357V missense 0.00000844●●●●●●
2512. 179593664 c.19101G>T p.K6367N missense 0.00000847●●●●●●
2513. 179593662 c.19103A>G p.N6368S missense 0.00000847●●●●●●
2514. 179593660 c.19105G>A p.E6369K missense 0.00000848●●●●●●
2515. 179593652 c.19113delA p.Val6372LeufsTer9 frameshift 0.00000855●●●●●●
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2517. 179593638 c.19127A>G p.Y6376C missense 0.00000867●●●●●●
2518. 179593614 c.19147+4T>C splice site 0.00003529●●●●●●
2519. 179593612 c.19147+6T>C splice site 0.00000883●●●●●●
2520. 179593510 c.19148-5_19148-3delTAC splice site 0.00000860●●●●●●
2521. 179593503 c.19150C>A p.P6384T missense 0.00306354●●●●●●
2522. 179593491 c.19162G>A p.V6388I missense 0.00003405●●●●●●
2523. 179593473 c.19180G>C p.V6394L missense 0.00006728●●●●●●
2524. 179593463 c.19190C>T p.T6397M missense 0.00002510●●●●●●
2525. 179593460 c.19193A>C p.E6398A missense 0.00000836●●●●●●
2526. 179593453 c.19200T>A p.D6400E missense 0.00000834●●●●●●
2527. 179593451 c.19202C>T p.P6401L missense 0.00000834●●●●●●
2528. 179593449 c.19204A>G p.M6402V missense 0.00487614●●●●●●
2529. 179593445 c.19208C>A p.T6403N missense 0.00000833●●●●●●
2530. 179593442 c.19211T>A p.L6404X nonsense 0.00000833●●●●●●
2531. 179593389 c.19264G>A p.G6422R missense 0.00002510●●●●●●
2532. 179593386 c.19267A>G p.K6423E missense 0.00000837●●●●●●
2533. 179593381 c.19272A>C p.Q6424H missense 0.00000837●●●●●●
2534. 179593377 c.19276G>A p.V6426I missense 0.00000837●●●●●●
2535. 179593374 c.19279C>T p.P6427S missense 0.00003351●●●●●●
2536. 179593370 c.19283G>T p.S6428I missense 0.00000838●●●●●●
2537. 179593364 c.19289A>G p.Y6430C missense 0.00002515●●●●●●
2538. 179593352 c.19301G>A p.S6434N missense 0.06986004●●●●●●
2539. 179593346 c.19307A>C p.E6436A missense 0.00000841●●●●●●
2540. 179593338 c.19315G>A p.V6439M missense 0.00002527●●●●●●
2541. 179593302 c.19351G>A p.D6451N missense 0.00000847●●●●●●
2542. 179593296 c.19357G>A p.G6453S missense 0.00005090●●●●●●
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2544. 179593274 c.19379A>G p.E6460G missense 0.00000852●●●●●●
2545. 179593264 c.19389C>A p.F6463L missense 0.00000855●●●●●●
2546. 179593250 c.19403G>C p.C6468S missense 0.00000865●●●●●●
2547. 179593244 c.19409C>T p.A6470V missense 0.00000871●●●●●●
2548. 179593235 c.19418G>T p.R6473I missense 0.00000879●●●●●●
2549. 179593221 c.19426+6T>C splice site 0.00000892●●●●●●
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2551. 179593125 c.19427-1G>C essential splice site 0.00000983●●●●●●
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2554. 179593110 c.19441C>A p.P6481T missense 0.00011596●●●●●●
2555. 179593104 c.19447T>C p.F6483L missense 0.00000959●●●●●●
2556. 179593082 c.19469T>C p.M6490T missense 0.00001863●●●●●●
2557. 179593079 c.19472A>G p.D6491G missense 0.00000921●●●●●●
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2560. 179593067 c.19484G>C p.G6495A missense 0.00001793●●●●●●
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2562. 179593055 c.19496A>T p.H6499L missense 0.00002623●●●●●●
2563. 179593041 c.19510G>C p.V6504L missense 0.00000856●●●●●●
2564. 179593026 c.19525C>T p.P6509S missense 0.00001695●●●●●●
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2579. 179592894 c.19657T>C p.C6553R missense 0.00000899●●●●●●
2580. 179592888 c.19663G>A p.V6555M missense 0.00001830●●●●●●
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2590. 179592536 c.19769C>T p.T6590I missense 0.00002523●●●●●●
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2594. 179592500 c.19805C>A p.P6602Q missense 0.00001659●●●●●●
2595. 179592479 c.19826A>G p.K6609R missense 0.00002485●●●●●●
2596. 179592478 c.19827G>C p.K6609N missense 0.00006627●●●●●●
2597. 179592478 c.19827G>T p.K6609N missense 0.00000828●●●●●●
2598. 179592476 c.19829A>T p.D6610V missense 0.00000828●●●●●●
2599. 179592470 c.19835T>A p.V6612E missense 0.00000828●●●●●●
2600. 179592465 c.19840C>A p.L6614I missense 0.00000828●●●●●●
2601. 179592455 c.19850G>A p.G6617D missense 0.00004970●●●●●●
2602. 179592449 c.19856A>C p.K6619T missense 0.00001656●●●●●●
2603. 179592444 c.19861T>C p.F6621L missense 0.00000828●●●●●●
2604. 179592441 c.19864A>T p.I6622F missense 0.00000828●●●●●●
2605. 179592429 c.19876G>A p.G6626R missense 0.00000828●●●●●●
2606. 179592425 c.19880C>T p.S6627L missense 0.00001657●●●●●●
2607. 179592387 c.19918_19919delAA p.Lys6640AspfsTer11 frameshift 0.00000834●●●●●●
2608. 179592384 c.19921A>C p.T6641P missense 0.00000834●●●●●●
2609. 179592383 c.19922C>A p.T6641N missense 0.00032544●●●●●●
2610. 179592368 c.19937G>A p.C6646Y missense 0.00002530●●●●●●
2611. 179592365 c.19940A>G p.H6647R missense 0.00000845●●●●●●
2612. 179592362 c.19943T>G p.V6648G missense 0.00001696●●●●●●
2613. 179592359 c.19946C>T p.T6649I missense 0.00000851●●●●●●
2614. 179592356 c.19949A>G p.N6650S missense 0.00000853●●●●●●
2615. 179592356 c.19949A>C p.N6650T missense 0.00000853●●●●●●
2616. 179592342 c.19963G>A p.D6655N missense 0.00003499●●●●●●
2617. 179592341 c.19964A>G p.D6655G missense 0.00000876●●●●●●
2618. 179592338 c.19967C>G p.S6656C missense 0.00001756●●●●●●
2619. 179592338 c.19967C>T p.S6656F missense 0.00001756●●●●●●
2620. 179592335 c.19970G>T p.C6657F missense 0.00000882●●●●●●
2621. 179592331 c.19974_19976delTAC p.T6658_T6659delinsT inframe 0.00000889●●●●●●
2622. 179592330 c.19975A>G p.T6659A missense 0.00000886●●●●●●
2623. 179592329 c.19976C>T p.T6659M missense 0.00394699●●●●●●
2624. 179592327 c.19978A>T p.M6660L missense 0.00000889●●●●●●
2625. 179592323 c.19982T>C p.L6661S missense 0.00001784●●●●●●
2626. 179592308 c.19993+4T>C splice site 0.00002707●●●●●●
2627. 179592306 c.19993+6C>A splice site 0.00000904●●●●●●
2628. 179592097 c.19995A>T p.E6665D missense 0.00007505●●●●●●
2629. 179592096 c.19996C>A p.P6666T missense 0.00000939●●●●●●
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2631. 179592093 c.19999C>T p.P6667S missense 0.00000931●●●●●●
2632. 179592084 c.20008G>A p.V6670I missense 0.00000918●●●●●●
2633. 179592068 c.20024C>T p.A6675V missense 0.00000893●●●●●●
2634. 179592065 c.20027C>T p.S6676F missense 0.00000888●●●●●●
2635. 179592051 c.20041G>A p.A6681T missense 0.00000866●●●●●●
2636. 179592047 c.20045G>T p.G6682V missense 0.00006029●●●●●●
2637. 179592036 c.20056C>T p.R6686X nonsense 0.00000848●●●●●●
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2639. 179592018 c.20074G>A p.A6692T missense 0.00001675●●●●●●
2640. 179592005 c.20087A>C p.E6696A missense 0.00000834●●●●●●
2641. 179591994 c.20098G>T p.V6700L missense 0.00000833●●●●●●
2642. 179591984 c.20108G>A p.R6703Q missense 0.00003331●●●●●●
2643. 179591953 c.20139G>C p.K6713N missense 0.00000831●●●●●●
2644. 179591951 c.20141A>G p.Y6714C missense 0.00000831●●●●●●
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2646. 179591945 c.20147T>G p.M6716R missense 0.00001661●●●●●●
2647. 179591936 c.20156T>C p.I6719T missense 0.00002491●●●●●●
2648. 179591922 c.20170G>A p.V6724I missense 0.00000830●●●●●●
2649. 179591917 c.20175A>G p.I6725M missense 0.00428379●●●●●●
2650. 179591893 c.20199G>C p.E6733D missense 0.00000831●●●●●●
2651. 179591859 c.20233C>T p.P6745S missense 0.00003370●●●●●●
2652. 179591856 c.20236G>A p.A6746T missense 0.00028789●●●●●●
2653. 179591826 c.20266A>G p.I6756V missense 0.00000886●●●●●●
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2656. 179590778 c.20276-5delT splice site 0.00001812●●●●●●
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2660. 179590734 c.20315C>G p.T6772S missense 0.00001729●●●●●●
2661. 179590732 c.20317C>T p.L6773F missense 0.00000863●●●●●●
2662. 179590728 c.20321A>G p.K6774R missense 0.00000860●●●●●●
2663. 179590722 c.20327C>T p.A6776V missense 0.00000855●●●●●●
2664. 179590720 c.20329G>C p.E6777Q missense 0.00000853●●●●●●
2665. 179590714 c.20335A>T p.S6779C missense 0.00059386●●●●●●
2666. 179590708 c.20341G>A p.E6781K missense 0.00106326●●●●●●
2667. 179590705 c.20344T>C p.C6782R missense 0.00000842●●●●●●
2668. 179590695 c.20354C>T p.S6785L missense 0.00013410●●●●●●
2669. 179590658 c.20391C>A p.D6797E missense 0.00000836●●●●●●
2670. 179590653 c.20396G>A p.R6799Q missense 0.00000837●●●●●●
2671. 179590631 c.20418A>C p.K6806N missense 0.00011706●●●●●●
2672. 179590599 c.20450G>T p.S6817I missense 0.00000834●●●●●●
2673. 179590584 c.20465A>G p.N6822S missense 0.00002498●●●●●●
2674. 179590584 c.20465A>C p.N6822T missense 0.00000833●●●●●●
2675. 179590581 c.20468T>G p.V6823G missense 0.00004164●●●●●●
2676. 179590575 c.20474C>T p.T6825I missense 0.00002498●●●●●●
2677. 179590568 c.20481C>A p.D6827E missense 0.00000833●●●●●●
2678. 179590564 c.20485G>A p.G6829S missense 0.00002503●●●●●●
2679. 179590522 c.20527A>G p.T6843A missense 0.00000863●●●●●●
2680. 179590497 c.20552A>C p.K6851T missense 0.00000888●●●●●●
2681. 179590490 c.20554+5A>G splice site 0.00002676●●●●●●
2682. 179590487 c.20554+8T>C splice site 0.00000893●●●●●●
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2684. 179590352 c.20579T>G p.L6860R missense 0.00000875●●●●●●
2685. 179590347 c.20584A>G p.S6862G missense 0.00005235●●●●●●
2686. 179590346 c.20585G>C p.S6862T missense 0.00000872●●●●●●
2687. 179590329 c.20602G>A p.G6868R missense 0.01159570●●●●●●
2688. 179590326 c.20605G>A p.E6869K missense 0.00000858●●●●●●
2689. 179590320 c.20611G>A p.A6871T missense 0.00000853●●●●●●
2690. 179590317 c.20614G>A p.E6872K missense 0.00000849●●●●●●
2691. 179590310 c.20621A>G p.Q6874R missense 0.00000844●●●●●●
2692. 179590308 c.20623G>A p.A6875T missense 0.00001685●●●●●●
2693. 179590301 c.20630T>C p.I6877T missense 0.00033564●●●●●●
2694. 179590299 c.20632G>C p.E6878Q missense 0.00000839●●●●●●
2695. 179590298 c.20633A>C p.E6878A missense 0.00000838●●●●●●
2696. 179590295 c.20636G>A p.G6879D missense 0.00000837●●●●●●
2697. 179590293 c.20638G>A p.A6880T missense 0.00001672●●●●●●
2698. 179590292 c.20639C>T p.A6880V missense 0.00000835●●●●●●
2699. 179590266 c.20665A>C p.K6889Q missense 0.00000832●●●●●●
2700. 179590266 c.20665A>G p.K6889E missense 0.00000832●●●●●●
2701. 179590257 c.20674G>A p.E6892K missense 0.00002494●●●●●●
2702. 179590251 c.20680G>C p.V6894L missense 0.00000832●●●●●●
2703. 179590250 c.20681T>A p.V6894E missense 0.00000832●●●●●●
2704. 179590248 c.20683A>G p.I6895V missense 0.00000832●●●●●●
2705. 179590235 c.20696A>G p.E6899G missense 0.00000832●●●●●●
2706. 179590229 c.20702T>C p.I6901T missense 0.00001664●●●●●●
2707. 179590224 c.20707A>G p.I6903V missense 0.00005825●●●●●●
2708. 179590216 c.20715T>G p.F6905L missense 0.00001666●●●●●●
2709. 179590208 c.20723A>G p.N6908S missense 0.00001668●●●●●●
2710. 179590196 c.20735T>C p.L6912P missense 0.00000835●●●●●●
2711. 179590188 c.20743G>T p.A6915S missense 0.00008369●●●●●●
2712. 179590163 c.20768G>A p.G6923E missense 0.00000879●●●●●●
2713. 179590155 c.20776A>G p.I6926V missense 0.00000931●●●●●●
2714. 179590152 c.20779T>C p.C6927R missense 0.00000960●●●●●●
2715. 179590139 c.20792A>G p.N6931S missense 0.00028839●●●●●●
2716. 179590133 c.20798G>C p.G6933A missense 0.00089205●●●●●●
2717. 179590126 c.20805G>T p.M6935I missense 0.00001535●●●●●●
2718. 179590125 c.20806A>T p.R6936W missense 0.00001572●●●●●●
2719. 179590119 c.20812A>T p.N6938Y missense 0.00001829●●●●●●
2720. 179589271 c.20837-6T>C splice site 0.00003720●●●●●●
2721. 179589260 c.20842G>A p.A6948T missense 0.00003579●●●●●●
2722. 179589257 c.20845_20848delGTCA p.Val6949LeufsTer8 frameshift 0.00000879●●●●●●
2723. 179589254 c.20848_20850delATT p.Ile6950del inframe 0.00000875●●●●●●
2724. 179589253 c.20849T>C p.I6950T missense 0.00000879●●●●●●
2725. 179589252 c.20850T>G p.I6950M missense 0.00000877●●●●●●
2726. 179589247 c.20855A>C p.E6952A missense 0.00000866●●●●●●
2727. 179589241 c.20861C>T p.A6954V missense 0.05105354●●●●●●
2728. 179589233 c.20869A>T p.M6957L missense 0.00003394●●●●●●
2729. 179589232 c.20870T>C p.M6957T missense 0.00000848●●●●●●
2730. 179589229 c.20873C>T p.T6958M missense 0.00001692●●●●●●
2731. 179589211 c.20891C>T p.T6964M missense 0.00005014●●●●●●
2732. 179589206 c.20896A>G p.T6966A missense 0.00000834●●●●●●
2733. 179589197 c.20905T>A p.C6969S missense 0.00000833●●●●●●
2734. 179589197 c.20905T>C p.C6969R missense 0.00004996●●●●●●
2735. 179589184 c.20918G>A p.G6973D missense 0.00000831●●●●●●
2736. 179589182 c.20920A>T p.T6974S missense 0.00000831●●●●●●
2737. 179589178 c.20924C>T p.P6975L missense 0.00004155●●●●●●
2738. 179589169 c.20933_20934delCT p.Ser6978CysfsTer2 frameshift 0.00001661●●●●●●
2739. 179589167 c.20935G>A p.V6979I missense 0.00000831●●●●●●
2740. 179589159 c.20943G>C p.W6981C missense 0.00001661●●●●●●
2741. 179589144 c.20958G>T p.K6986N missense 0.00000830●●●●●●
2742. 179589142 c.20960T>C p.L6987P missense 0.00002490●●●●●●
2743. 179589130 c.20972G>A p.S6991N missense 0.00001660●●●●●●
2744. 179589129 c.20973C>G p.S6991R missense 0.00000830●●●●●●
2745. 179589116 c.20986T>C p.F6996L missense 0.00000830●●●●●●
2746. 179589103 c.20999A>G p.N7000S missense 0.00007473●●●●●●
2747. 179589100 c.21002A>G p.K7001R missense 0.00013286●●●●●●
2748. 179589096 c.21006C>G p.I7002M missense 0.00000830●●●●●●
2749. 179589085 c.21017G>A p.R7006K missense 0.00001662●●●●●●
2750. 179589083 c.21019A>T p.I7007F missense 0.00144561●●●●●●
2751. 179589082 c.21020T>C p.I7007T missense 0.00001662●●●●●●
2752. 179589080 c.21022C>A p.L7008I missense 0.00000831●●●●●●
2753. 179589074 c.21028G>A p.V7010I missense 0.00004155●●●●●●
2754. 179589059 c.21043G>A p.A7015T missense 0.00000832●●●●●●
2755. 179589058 c.21044C>T p.A7015V missense 0.01645098●●●●●●
2756. 179589039 c.21063G>C p.Q7021H missense 0.00000834●●●●●●
2757. 179589034 c.21068A>C p.Q7023P missense 0.00000834●●●●●●
2758. 179588996 c.21106G>A p.D7036N missense 0.00517990●●●●●●
2759. 179588995 c.21107A>T p.D7036V missense 0.00002545●●●●●●
2760. 179588871 c.21116-1G>A essential splice site 0.00001724●●●●●●
2761. 179588867 c.21119G>A p.R7040Q missense 0.00000860●●●●●●
2762. 179588856 c.21130C>T p.P7044S missense 0.00000852●●●●●●
2763. 179588844 c.21142C>T p.R7048X nonsense 0.00001695●●●●●●
2764. 179588843 c.21143G>A p.R7048Q missense 0.00003388●●●●●●
2765. 179588829 c.21157A>C p.T7053P missense 0.00010095●●●●●●
2766. 179588823 c.21163G>T p.G7055W missense 0.00003358●●●●●●
2767. 179588813 c.21173G>A p.G7058D missense 0.00170849●●●●●●
2768. 179588811 c.21175G>A p.A7059T missense 0.00000837●●●●●●
2769. 179588807 c.21179C>T p.S7060F missense 0.00000837●●●●●●
2770. 179588802 c.21184A>G p.I7062V missense 0.00000836●●●●●●
2771. 179588789 c.21197A>G p.K7066R missense 0.00023365●●●●●●
2772. 179588759 c.21227C>T p.A7076V missense 0.00000833●●●●●●
2773. 179588732 c.21254T>G p.V7085G missense 0.00000831●●●●●●
2774. 179588730 c.21256A>G p.S7086G missense 0.00001662●●●●●●
2775. 179588709 c.21277A>G p.T7093A missense 0.00000830●●●●●●
2776. 179588695 c.21291T>A p.N7097K missense 0.00000830●●●●●●
2777. 179588660 c.21326C>T p.S7109L missense 0.00000830●●●●●●
2778. 179588654 c.21332T>C p.M7111T missense 0.00001661●●●●●●
2779. 179588651 c.21335G>T p.G7112V missense 0.00000830●●●●●●
2780. 179588646 c.21340T>C p.Y7114H missense 0.00000831●●●●●●
2781. 179588638 c.21348C>G p.C7116W missense 0.00000831●●●●●●
2782. 179588637 c.21349G>A p.V7117M missense 0.00002494●●●●●●
2783. 179588628 c.21358A>G p.N7120D missense 0.00000833●●●●●●
2784. 179588627 c.21359A>C p.N7120T missense 0.00000833●●●●●●
2785. 179588622 c.21364G>A p.A7122T missense 0.00051841●●●●●●
2786. 179588622 c.21364G>T p.A7122S missense 0.00000836●●●●●●
2787. 179588619 c.21367G>A p.G7123R missense 0.00000837●●●●●●
2788. 179588609 c.21377A>C p.E7126A missense 0.00001687●●●●●●
2789. 179588604 c.21382C>T p.R7128C missense 0.00001697●●●●●●
2790. 179588603 c.21383G>A p.R7128H missense 0.00002553●●●●●●
2791. 179588598 c.21388G>C p.V7130L missense 0.00000857●●●●●●
2792. 179588583 c.21403G>A p.E7135K missense 0.00000873●●●●●●
2793. 179588582 c.21403+1G>A essential splice site 0.00000875●●●●●●
2794. 179588577 c.21403+6T>C splice site 0.00000880●●●●●●
2795. 179588431 c.21404-8C>G splice site 0.00004843●●●●●●
2796. 179588429 c.21404-6A>G splice site 0.00001931●●●●●●
2797. 179588429 c.21404-6A>C splice site 0.00000965●●●●●●
2798. 179588427 c.21404-4A>G splice site 0.00052937●●●●●●
2799. 179588420 c.21407C>T p.P7136L missense 0.00002857●●●●●●
2800. 179588411 c.21416T>A p.F7139Y missense 0.00005634●●●●●●
2801. 179588394 c.21433C>T p.P7145S missense 0.00000915●●●●●●
2802. 179588385 c.21442G>A p.V7148I missense 0.00000905●●●●●●
2803. 179588352 c.21475G>A p.V7159I missense 0.00004321●●●●●●
2804. 179588351 c.21476T>C p.V7159A missense 0.00001728●●●●●●
2805. 179588342 c.21485delG p.Gly7162GlufsTer16 frameshift 0.00000855●●●●●●
2806. 179588339 c.21488C>A p.T7163N missense 0.00000854●●●●●●
2807. 179588330 c.21497T>G p.F7166C missense 0.00002549●●●●●●
2808. 179588319 c.21508T>C p.W7170R missense 0.00000846●●●●●●
2809. 179588316 c.21511T>G p.F7171V missense 0.00000845●●●●●●
2810. 179588306 c.21521C>T p.A7174V missense 0.00001684●●●●●●
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2812. 179588295 c.21532G>C p.V7178L missense 0.00000840●●●●●●
2813. 179588289 c.21538G>A p.G7180R missense 0.00006715●●●●●●
2814. 179588283 c.21544C>T p.R7182W missense 0.00008393●●●●●●
2815. 179588282 c.21545G>A p.R7182Q missense 0.00004196●●●●●●
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2818. 179588273 c.21554T>C p.I7185T missense 0.00000839●●●●●●
2819. 179588270 c.21557A>G p.Y7186C missense 0.00000839●●●●●●
2820. 179588267 c.21560T>A p.F7187Y missense 0.00000839●●●●●●
2821. 179588238 c.21589T>C p.F7197L missense 0.00003359●●●●●●
2822. 179588231 c.21596T>C p.I7199T missense 0.00002520●●●●●●
2823. 179588215 c.21612T>G p.S7204R missense 0.00003358●●●●●●
2824. 179588188 c.21639C>G p.N7213K missense 0.00000840●●●●●●
2825. 179588186 c.21641A>G p.N7214S missense 0.00000840●●●●●●
2826. 179588184 c.21643G>A p.A7215T missense 0.00000841●●●●●●
2827. 179588183 c.21644C>T p.A7215V missense 0.00001681●●●●●●
2828. 179588180 c.21647G>A p.G7216D missense 0.00000841●●●●●●
2829. 179588174 c.21653C>T p.A7218V missense 0.00004210●●●●●●
2830. 179588171 c.21656C>T p.S7219F missense 0.00023580●●●●●●
2831. 179588162 c.21665C>G p.T7222S missense 0.00000844●●●●●●
2832. 179588159 c.21668G>A p.R7223H missense 0.00052432●●●●●●
2833. 179588157 c.21670C>T p.L7224F missense 0.00000845●●●●●●
2834. 179588153 c.21674T>C p.F7225S missense 0.00001692●●●●●●
2835. 179588049 c.21685C>T p.P7229S missense 0.00000842●●●●●●
2836. 179588048 c.21686C>A p.P7229Q missense 0.00003365●●●●●●
2837. 179588045 c.21689C>T p.A7230V missense 0.00004202●●●●●●
2838. 179588040 c.21694T>G p.F7232V missense 0.00005035●●●●●●
2839. 179588029 c.21705A>T p.R7235S missense 0.00000837●●●●●●
2840. 179588027 c.21707T>C p.L7236S missense 0.00001674●●●●●●
2841. 179588024 c.21710G>A p.S7237N missense 0.00000837●●●●●●
2842. 179588024 c.21710G>C p.S7237T missense 0.00000837●●●●●●
2843. 179588022 c.21712G>A p.D7238N missense 0.00000836●●●●●●
2844. 179588021 c.21713A>T p.D7238V missense 0.00005854●●●●●●
2845. 179588013 c.21721G>A p.V7241I missense 0.00005012●●●●●●
2846. 179588006 c.21728C>T p.P7243L missense 0.00000835●●●●●●
2847. 179587985 c.21749A>G p.E7250G missense 0.00000834●●●●●●
2848. 179587979 c.21755C>T p.T7252I missense 0.00000834●●●●●●
2849. 179587962 c.21772C>T p.P7258S missense 0.00000834●●●●●●
2850. 179587955 c.21779C>A p.S7260Y missense 0.00448954●●●●●●
2851. 179587950 c.21784_21786delACT p.Thr7262del inframe 0.00001669●●●●●●
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2853. 179587945 c.21789G>C p.W7263C missense 0.00001669●●●●●●
2854. 179587944 c.21790A>C p.K7264Q missense 0.00001669●●●●●●
2855. 179587935 c.21799G>A p.G7267S missense 0.00000835●●●●●●
2856. 179587934 c.21800G>A p.G7267D missense 0.00080943●●●●●●
2857. 179587926 c.21808A>G p.I7270V missense 0.00000834●●●●●●
2858. 179587926 c.21808delA p.Ile7270Ter frameshift 0.00001669●●●●●●
2859. 179587925 c.21809T>C p.I7270T missense 0.00000834●●●●●●
2860. 179587920 c.21814A>G p.T7272A missense 0.00001668●●●●●●
2861. 179587916 c.21818C>T p.S7273F missense 0.00000834●●●●●●
2862. 179587901 c.21833T>A p.I7278K missense 0.00001668●●●●●●
2863. 179587890 c.21844G>A p.E7282K missense 0.00001668●●●●●●
2864. 179587889 c.21845A>G p.E7282G missense 0.00000834●●●●●●
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2866. 179587857 c.21877A>C p.T7293P missense 0.00000832●●●●●●
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2905. 179587207 c.22307T>C p.V7436A missense 0.00001661●●●●●●
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2910. 179587130 c.22384G>C p.D7462H missense 0.17860474●●●●●●
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2913. 179587128 c.22386T>A p.D7462E missense 0.00013336●●●●●●
2914. 179587108 c.22406T>C p.F7469S missense 0.00000836●●●●●●
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2917. 179587094 c.22420G>A p.A7474T missense 0.00012565●●●●●●
2918. 179587075 c.22439A>C p.Q7480P missense 0.00022678●●●●●●
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2920. 179587045 c.22469C>G p.S7490C missense 0.00000861●●●●●●
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2923. 179587004 c.22510G>A p.A7504T missense 0.00000904●●●●●●
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2925. 179586868 c.22529-7C>A splice site 0.00000897●●●●●●
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2928. 179586837 c.22553A>T p.D7518V missense 0.00002641●●●●●●
2929. 179586835 c.22555A>C p.I7519L missense 0.00000879●●●●●●
2930. 179586835 c.22555A>T p.I7519F missense 0.00000879●●●●●●
2931. 179586829 c.22561C>T p.P7521S missense 0.00000874●●●●●●
2932. 179586815 c.22575T>A p.D7525E missense 0.00008654●●●●●●
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2934. 179586798 c.22592G>A p.S7531N missense 0.00002561●●●●●●
2935. 179586793 c.22597G>A p.D7533N missense 0.00000848●●●●●●
2936. 179586789 c.22601T>A p.F7534Y missense 0.00010147●●●●●●
2937. 179586788 c.22602dupT p.Glu7535Ter frameshift 0.00000845●●●●●●
2938. 179586773 c.22617dupT p.Gly7540TrpfsTer13 frameshift 0.00000835●●●●●●
2939. 179586762 c.22628C>T p.P7543L missense 0.00004159●●●●●●
2940. 179586757 c.22633C>T p.R7545X nonsense 0.00000831●●●●●●
2941. 179586756 c.22634G>A p.R7545Q missense 0.00202628●●●●●●
2942. 179586746 c.22644G>T p.W7548C missense 0.00000829●●●●●●
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2944. 179586737 c.22653T>A p.D7551E missense 0.00002486●●●●●●
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2946. 179586724 c.22666C>T p.R7556C missense 0.00012426●●●●●●
2947. 179586724 c.22666C>A p.R7556S missense 0.00000828●●●●●●
2948. 179586723 c.22667G>A p.R7556H missense 0.00005799●●●●●●
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2950. 179586721 c.22669C>A p.P7557T missense 0.00001657●●●●●●
2951. 179586697 c.22693T>A p.C7565S missense 0.00000828●●●●●●
2952. 179586696 c.22694G>T p.C7565F missense 0.00000828●●●●●●
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2958. 179586658 c.22732G>C p.G7578R missense 0.00001658●●●●●●
2959. 179586647 c.22743C>G p.D7581E missense 0.00001659●●●●●●
2960. 179586645 c.22745C>G p.S7582C missense 0.00003320●●●●●●
2961. 179586645 c.22745_22746delCT p.Ser7582TrpfsTer10 frameshift 0.00000830●●●●●●
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2963. 179586612 c.22778T>C p.V7593A missense 0.00000842●●●●●●
2964. 179586604 c.22786G>C p.D7596H missense 0.02978453●●●●●●
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2966. 179586592 c.22798G>T p.A7600S missense 0.00000864●●●●●●
2967. 179586586 c.22804C>T p.L7602F missense 0.00000873●●●●●●
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2973. 179585891 c.22855G>C p.V7619L missense 0.00001827●●●●●●
2974. 179585888 c.22858G>T p.A7620S missense 0.00000892●●●●●●
2975. 179585857 c.22889G>C p.C7630S missense 0.00007519●●●●●●
2976. 179585851 c.22895T>C p.I7632T missense 0.00001666●●●●●●
2977. 179585824 c.22922C>T p.S7641L missense 0.00006640●●●●●●
2978. 179585815 c.22931G>A p.R7644Q missense 0.00005808●●●●●●
2979. 179585805 c.22941C>A p.S7647R missense 0.00000829●●●●●●
2980. 179585804 c.22942G>A p.E7648K missense 0.00002488●●●●●●
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2983. 179585782 c.22964A>T p.Y7655F missense 0.00000829●●●●●●
2984. 179585780 c.22966A>G p.N7656D missense 0.00004146●●●●●●
2985. 179585776 c.22970T>C p.M7657T missense 0.00000829●●●●●●
2986. 179585775 c.22971G>A p.M7657I missense 0.00001659●●●●●●
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2989. 179585740 c.23006A>G p.N7669S missense 0.00001659●●●●●●
2990. 179585723 c.23023G>T p.D7675Y missense 0.00136124●●●●●●
2991. 179585723 c.23023G>A p.D7675N missense 0.00001660●●●●●●
2992. 179585718 c.23028C>G p.S7676R missense 0.00003321●●●●●●
2993. 179585717 c.23029G>A p.G7677R missense 0.00023251●●●●●●
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2996. 179585702 c.23044G>A p.E7682K missense 0.00002494●●●●●●
2997. 179585696 c.23050C>T p.H7684Y missense 0.00000832●●●●●●
2998. 179585681 c.23065G>A p.D7689N missense 0.00001670●●●●●●
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3000. 179585677 c.23069C>T p.A7690V missense 0.00000838●●●●●●
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3101. 179584396 c.23823T>A p.N7941K missense 0.00000828●●●●●●
3102. 179584395 c.23824A>G p.K7942E missense 0.00004142●●●●●●
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3108. 179584322 c.23897G>C p.S7966T missense 0.00002509●●●●●●
3109. 179584301 c.23918C>T p.T7973I missense 0.00000853●●●●●●
3110. 179584293 c.23926G>A p.V7976I missense 0.00005179●●●●●●
3111. 179584283 c.23936C>G p.S7979C missense 0.00000869●●●●●●
3112. 179584275 c.23938+6T>C splice site 0.00000875●●●●●●
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3117. 179584160 c.23957C>T p.S7986F missense 0.00007535●●●●●●
3118. 179584152 c.23965C>T p.R7989C missense 0.00012511●●●●●●
3119. 179584145 c.23972T>C p.L7991P missense 0.00000832●●●●●●
3120. 179584138 c.23979C>A p.D7993E missense 0.00000830●●●●●●
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3122. 179584128 c.23989A>G p.I7997V missense 0.00002488●●●●●●
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3126. 179584097 c.24020G>A p.R8007Q missense 0.00012428●●●●●●
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3132. 179584083 c.24034G>C p.A8012P missense 0.00000828●●●●●●
3133. 179584079 c.24038C>T p.P8013L missense 0.00000828●●●●●●
3134. 179584070 c.24047T>C p.V8016A missense 0.00001657●●●●●●
3135. 179584049 c.24068A>G p.N8023S missense 0.00000828●●●●●●
3136. 179584048 c.24069T>A p.N8023K missense 0.00000828●●●●●●
3137. 179584042 c.24075T>G p.I8025M missense 0.00121737●●●●●●
3138. 179584022 c.24095A>G p.Q8032R missense 0.00001656●●●●●●
3139. 179584013 c.24104T>G p.F8035C missense 0.00000828●●●●●●
3140. 179584013 c.24104T>C p.F8035S missense 0.00001657●●●●●●
3141. 179584010 c.24107C>T p.S8036L missense 0.00007455●●●●●●
3142. 179584002 c.24115G>A p.V8039I missense 0.00000829●●●●●●
3143. 179583992 c.24125T>C p.L8042S missense 0.00000829●●●●●●
3144. 179583964 c.24153C>G p.D8051E missense 0.00000830●●●●●●
3145. 179583960 c.24157G>A p.G8053S missense 0.00002492●●●●●●
3146. 179583957 c.24160A>T p.I8054L missense 0.00194410●●●●●●
3147. 179583956 c.24161T>A p.I8054K missense 0.00000831●●●●●●
3148. 179583950 c.24167C>T p.T8056M missense 0.00000831●●●●●●
3149. 179583935 c.24182A>G p.N8061S missense 0.00001664●●●●●●
3150. 179583921 c.24196G>A p.D8066N missense 0.00001671●●●●●●
3151. 179583911 c.24206C>T p.S8069L missense 0.00001678●●●●●●
3152. 179583897 c.24220G>A p.V8074M missense 0.00002549●●●●●●
3153. 179583702 c.24227-2A>G essential splice site 0.00001195●●●●●●
3154. 179583698 c.24229C>T p.P8077S missense 0.00003508●●●●●●
3155. 179583695 c.24232C>A p.P8078T missense 0.00001151●●●●●●
3156. 179583662 c.24265G>C p.V8089L missense 0.00002973●●●●●●
3157. 179583649 c.24278T>C p.M8093T missense 0.00000946●●●●●●
3158. 179583646 c.24281G>A p.S8094N missense 0.00000934●●●●●●
3159. 179583625 c.24302T>A p.I8101N missense 0.00000882●●●●●●
3160. 179583625 c.24302T>C p.I8101T missense 0.00000882●●●●●●
3161. 179583622 c.24305G>A p.R8102K missense 0.00000880●●●●●●
3162. 179583605 c.24322A>G p.K8108E missense 0.00001704●●●●●●
3163. 179583583 c.24344G>A p.S8115N missense 0.00008374●●●●●●
3164. 179583574 c.24353T>C p.L8118P missense 0.00001669●●●●●●
3165. 179583571 c.24356T>C p.V8119A missense 0.00000834●●●●●●
3166. 179583569 c.24358C>T p.P8120S missense 0.00005001●●●●●●
3167. 179583566 c.24361G>A p.G8121R missense 0.00000833●●●●●●
3168. 179583562 c.24365A>T p.E8122V missense 0.00000832●●●●●●
3169. 179583556 c.24371G>A p.C8124Y missense 0.00001664●●●●●●
3170. 179583551 c.24376A>G p.I8126V missense 0.00000831●●●●●●
3171. 179583529 c.24398C>T p.T8133I missense 0.00001660●●●●●●
3172. 179583529 c.24398C>G p.T8133R missense 0.00005811●●●●●●
3173. 179583524 c.24403C>A p.L8135M missense 0.00000830●●●●●●
3174. 179583509 c.24418G>A p.V8140M missense 0.00000830●●●●●●
3175. 179583497 c.24430G>A p.E8144K missense 0.00000830●●●●●●
3176. 179583496 c.24431A>C p.E8144A missense 0.17662534●●●●●●
3177. 179583496 c.24431A>G p.E8144G missense 0.00000830●●●●●●
3178. 179583495 c.24432A>T p.E8144D missense 0.00019074●●●●●●
3179. 179583473 c.24454G>T p.V8152F missense 0.00000829●●●●●●
3180. 179583473 c.24454G>A p.V8152I missense 0.00004147●●●●●●
3181. 179583467 c.24460A>G p.N8154D missense 0.00000829●●●●●●
3182. 179583466 c.24461A>G p.N8154S missense 0.00000829●●●●●●
3183. 179583458 c.24469G>A p.G8157S missense 0.00000829●●●●●●
3184. 179583454 c.24473G>A p.S8158N missense 0.00000829●●●●●●
3185. 179583445 c.24482G>A p.C8161Y missense 0.00000830●●●●●●
3186. 179583425 c.24502A>G p.K8168E missense 0.00000832●●●●●●
3187. 179583335 c.24506-8C>G splice site 0.00009250●●●●●●
3188. 179583330 c.24506-3T>C splice site 0.00000840●●●●●●
3189. 179583321 c.24512C>T p.A8171V missense 0.00000839●●●●●●
3190. 179583298 c.24535G>A p.D8179N missense 0.00000833●●●●●●
3191. 179583292 c.24541A>G p.S8181G missense 0.00000832●●●●●●
3192. 179583286 c.24547G>C p.E8183Q missense 0.00018302●●●●●●
3193. 179583269 c.24564A>G p.I8188M missense 0.00002493●●●●●●
3194. 179583262 c.24571G>A p.E8191K missense 0.00004154●●●●●●
3195. 179583256 c.24577A>G p.T8193A missense 0.00000830●●●●●●
3196. 179583253 c.24580T>C p.Y8194H missense 0.00000830●●●●●●
3197. 179583250 c.24583A>G p.T8195A missense 0.00000830●●●●●●
3198. 179583249 c.24584C>T p.T8195I missense 0.00000830●●●●●●
3199. 179583243 c.24590C>A p.T8197K missense 0.00000830●●●●●●
3200. 179583220 c.24613A>G p.I8205V missense 0.00000830●●●●●●
3201. 179583219 c.24614T>A p.I8205K missense 0.00001660●●●●●●
3202. 179583214 c.24619G>A p.D8207N missense 0.00004981●●●●●●
3203. 179583211 c.24622G>A p.E8208K missense 0.00007471●●●●●●
3204. 179583194 c.24639A>C p.Q8213H missense 0.00004150●●●●●●
3205. 179583181 c.24652A>G p.S8218G missense 0.00072179●●●●●●
3206. 179583178 c.24655A>G p.I8219V missense 0.00000830●●●●●●
3207. 179583175 c.24658A>G p.T8220A missense 0.00000830●●●●●●
3208. 179583170 c.24663G>A p.M8221I missense 0.00000830●●●●●●
3209. 179583146 c.24687A>T p.E8229D missense 0.00000829●●●●●●
3210. 179583141 c.24692T>C p.L8231P missense 0.00001658●●●●●●
3211. 179583133 c.24700A>G p.T8234A missense 0.00000829●●●●●●
3212. 179583132 c.24701C>T p.T8234I missense 0.00002487●●●●●●
3213. 179583130 c.24703A>G p.I8235V missense 0.00000829●●●●●●
3214. 179583127 c.24706G>A p.E8236K missense 0.00003316●●●●●●
3215. 179583125 c.24708_24710delGGA p.Glu8236del inframe 0.00000829●●●●●●
3216. 179583120 c.24713A>G p.Y8238C missense 0.00000829●●●●●●
3217. 179583114 c.24719A>G p.Q8240R missense 0.00002487●●●●●●
3218. 179583109 c.24724A>G p.S8242G missense 0.00000829●●●●●●
3219. 179583097 c.24736G>A p.E8246K missense 0.00004145●●●●●●
3220. 179583078 c.24755A>G p.D8252G missense 0.00000830●●●●●●
3221. 179583077 c.24756T>G p.D8252E missense 0.00013281●●●●●●
3222. 179583075 c.24758T>C p.I8253T missense 0.00000830●●●●●●
3223. 179583072 c.24761G>C p.C8254S missense 0.00000831●●●●●●
3224. 179583067 c.24766G>A p.A8256T missense 0.00000832●●●●●●
3225. 179583064 c.24769C>G p.L8257V missense 0.00004162●●●●●●
3226. 179583048 c.24784+1G>A essential splice site 0.00000838●●●●●●
3227. 179582951 c.24785-3T>C splice site 0.00000858●●●●●●
3228. 179582936 c.24797T>A p.F8266Y missense 0.00000853●●●●●●
3229. 179582934 c.24799A>T p.I8267F missense 0.00001706●●●●●●
3230. 179582913 c.24820G>A p.E8274K missense 0.00198003●●●●●●
3231. 179582910 c.24823G>A p.A8275T missense 0.00000844●●●●●●
3232. 179582903 c.24830T>C p.I8277T missense 0.00000841●●●●●●
3233. 179582900 c.24833G>C p.G8278A missense 0.00001681●●●●●●
3234. 179582880 c.24853T>A p.C8285S missense 0.00000835●●●●●●
3235. 179582859 c.24874G>C p.E8292Q missense 0.00000833●●●●●●
3236. 179582853 c.24880A>G p.R8294G missense 0.02104589●●●●●●
3237. 179582849 c.24884T>A p.I8295N missense 0.00000832●●●●●●
3238. 179582847 c.24886T>A p.S8296T missense 0.00001663●●●●●●
3239. 179582846 c.24887C>G p.S8296C missense 0.00000832●●●●●●
3240. 179582831 c.24902A>T p.H8301L missense 0.00000830●●●●●●
3241. 179582828 c.24905C>A p.T8302K missense 0.00008298●●●●●●
3242. 179582820 c.24913C>T p.R8305X nonsense 0.00002488●●●●●●
3243. 179582819 c.24914G>A p.R8305Q missense 0.00002487●●●●●●
3244. 179582811 c.24922C>T p.P8308S missense 0.00003315●●●●●●
3245. 179582807 c.24926C>T p.A8309V missense 0.00000829●●●●●●
3246. 179582807 c.24926C>A p.A8309E missense 0.00000829●●●●●●
3247. 179582805 c.24928T>A p.Y8310N missense 0.00001657●●●●●●
3248. 179582800 c.24933A>C p.K8311N missense 0.00000829●●●●●●
3249. 179582799 c.24934A>G p.M8312V missense 0.00000829●●●●●●
3250. 179582798 c.24935T>C p.M8312T missense 0.00000829●●●●●●
3251. 179582793 c.24940T>C p.F8314L missense 0.00007456●●●●●●
3252. 179582791 c.24942C>A p.F8314L missense 0.00001657●●●●●●
3253. 179582782 c.24951C>G p.N8317K missense 0.00000828●●●●●●
3254. 179582781 c.24952G>A p.V8318I missense 0.00073728●●●●●●
3255. 179582769 c.24964G>T p.V8322L missense 0.00075381●●●●●●
3256. 179582769 c.24964G>A p.V8322I missense 0.00000828●●●●●●
3257. 179582760 c.24973A>G p.K8325E missense 0.00613807●●●●●●
3258. 179582758 c.24975A>T p.K8325N missense 0.00000828●●●●●●
3259. 179582751 c.24982C>A p.H8328N missense 0.00000828●●●●●●
3260. 179582741 c.24992T>A p.V8331E missense 0.00000828●●●●●●
3261. 179582730 c.25003T>G p.S8335A missense 0.00000828●●●●●●
3262. 179582702 c.25031C>A p.A8344E missense 0.00000829●●●●●●
3263. 179582697 c.25036G>A p.A8346T missense 0.00001661●●●●●●
3264. 179582696 c.25037C>T p.A8346V missense 0.00000830●●●●●●
3265. 179582687 c.25046C>G p.A8349G missense 0.00000831●●●●●●
3266. 179582679 c.25054G>C p.V8352L missense 0.00000833●●●●●●
3267. 179582669 c.25063+1G>A essential splice site 0.00000835●●●●●●
3268. 179582663 c.25063+7G>A splice site 0.00000837●●●●●●
3269. 179582542 c.25064-5T>C splice site 0.00000860●●●●●●
3270. 179582541 c.25064-4A>G splice site 0.00001720●●●●●●
3271. 179582537 c.25064C>A p.A8355E missense 0.30876983●●●●●●
3272. 179582536 c.25065G>A splice site 0.00004273●●●●●●
3273. 179582535 c.25066C>T p.R8356C missense 0.00017938●●●●●●
3274. 179582534 c.25067G>A p.R8356H missense 0.00002567●●●●●●
3275. 179582514 c.25087G>T p.A8363S missense 0.00021278●●●●●●
3276. 179582514 c.25087G>C p.A8363P missense 0.00001702●●●●●●
3277. 179582497 c.25104C>A p.D8368E missense 0.00005088●●●●●●
3278. 179582475 c.25126C>T p.P8376S missense 0.00011007●●●●●●
3279. 179582465 c.25136T>C p.F8379S missense 0.00000846●●●●●●
3280. 179582457 c.25144C>T p.R8382C missense 0.00011844●●●●●●
3281. 179582456 c.25145G>A p.R8382H missense 0.00044909●●●●●●
3282. 179582453 c.25148T>C p.I8383T missense 0.00004227●●●●●●
3283. 179582447 c.25154G>C p.G8385A missense 0.00001691●●●●●●
3284. 179582438 c.25163C>T p.P8388L missense 0.00000845●●●●●●
3285. 179582415 c.25186G>A p.D8396N missense 0.00000845●●●●●●
3286. 179582409 c.25192G>C p.V8398L missense 0.00000845●●●●●●
3287. 179582409 c.25192G>A p.V8398I missense 0.00001690●●●●●●
3288. 179582406 c.25195C>G p.L8399V missense 0.00000845●●●●●●
3289. 179582399 c.25202A>C p.K8401T missense 0.00000845●●●●●●
3290. 179582394 c.25207G>T p.D8403Y missense 0.00000845●●●●●●
3291. 179582393 c.25208A>G p.D8403G missense 0.00000845●●●●●●
3292. 179582386 c.25215T>A p.N8405K missense 0.00000845●●●●●●
3293. 179582378 c.25223C>T p.T8408I missense 0.00024514●●●●●●
3294. 179582375 c.25226C>A p.S8409Y missense 0.00000845●●●●●●
3295. 179582370 c.25231G>A p.V8411I missense 0.00002538●●●●●●
3296. 179582366 c.25235A>G p.H8412R missense 0.00001691●●●●●●
3297. 179582362 c.25239T>G p.N8413K missense 0.00000846●●●●●●
3298. 179582360 c.25241T>C p.V8414A missense 0.00000846●●●●●●
3299. 179582352 c.25249C>T p.L8417F missense 0.00000846●●●●●●
3300. 179582347 c.25254G>T p.Q8418H missense 0.00001692●●●●●●
3301. 179582331 c.25270C>G p.Q8424E missense 0.00000846●●●●●●
3302. 179582327 c.25274G>A p.S8425N missense 0.17836272●●●●●●
3303. 179582322 c.25279A>G p.I8427V missense 0.00001690●●●●●●
3304. 179582315 c.25286A>G p.Q8429R missense 0.00000846●●●●●●
3305. 179582283 c.25318A>T p.T8440S missense 0.00000860●●●●●●
3306. 179582274 c.25327T>G p.S8443A missense 0.00000868●●●●●●
3307. 179582271 c.25330A>G p.S8444G missense 0.00000871●●●●●●
3308. 179582255 c.25346T>C p.L8449P missense 0.00000887●●●●●●
3309. 179582253 c.25348T>C p.S8450P missense 0.00000888●●●●●●
3310. 179582251 c.25350A>G p.S8450S splice site 0.00001782●●●●●●
3311. 179582249 c.25351+1G>T essential splice site 0.00000893●●●●●●
3312. 179582243 c.25351+7A>G splice site 0.00002694●●●●●●
3313. 179582242 c.25351+8A>T splice site 0.00000899●●●●●●
3314. 179582111 c.25352-2A>G essential splice site 0.00000851●●●●●●
3315. 179582107 c.25354C>A p.H8452N missense 0.00000848●●●●●●
3316. 179582106 c.25355A>G p.H8452R missense 0.00000847●●●●●●
3317. 179582106 c.25355A>C p.H8452P missense 0.00000847●●●●●●
3318. 179582097 c.25364C>T p.P8455L missense 0.00000842●●●●●●
3319. 179582074 c.25387G>A p.V8463I missense 0.00000833●●●●●●
3320. 179582065 c.25396G>C p.D8466H missense 0.00002493●●●●●●
3321. 179582064 c.25397A>G p.D8466G missense 0.00001662●●●●●●
3322. 179582063 c.25398T>A p.D8466E missense 0.01122093●●●●●●
3323. 179582058 c.25403C>T p.A8468V missense 0.00000830●●●●●●
3324. 179582046 c.25415G>C p.S8472T missense 0.00005808●●●●●●
3325. 179582044 c.25417G>A p.G8473S missense 0.00000830●●●●●●
3326. 179582028 c.25433A>G p.H8478R missense 0.00000829●●●●●●
3327. 179582014 c.25447delG p.Ala8483HisfsTer22 frameshift 0.00000829●●●●●●
3328. 179581987 c.25474G>A p.D8492N missense 0.00000829●●●●●●
3329. 179581985 c.25476T>A p.D8492E missense 0.00000829●●●●●●
3330. 179581980 c.25481G>A p.R8494Q missense 0.00013274●●●●●●
3331. 179581977 c.25484A>T p.E8495V missense 0.00002489●●●●●●
3332. 179581974 c.25487T>C p.I8496T missense 0.00000830●●●●●●
3333. 179581972 c.25489C>T p.R8497C missense 0.00003319●●●●●●
3334. 179581971 c.25490G>A p.R8497H missense 0.00430598●●●●●●
3335. 179581963 c.25498G>A p.G8500S missense 0.00000830●●●●●●
3336. 179581962 c.25499delG p.Gly8500AlafsTer5 frameshift 0.00001659●●●●●●
3337. 179581958 c.25503C>G p.N8501K missense 0.00000830●●●●●●
3338. 179581953 c.25508A>G p.K8503R missense 0.00002490●●●●●●
3339. 179581953 c.25508A>C p.K8503T missense 0.00000830●●●●●●
3340. 179581951 c.25510A>C p.M8504L missense 0.00001660●●●●●●
3341. 179581926 c.25535C>T p.T8512I missense 0.00000830●●●●●●
3342. 179581915 c.25546C>T p.L8516F missense 0.00000831●●●●●●
3343. 179581906 c.25555G>A p.G8519S missense 0.00000831●●●●●●
3344. 179581897 c.25564G>A p.D8522N missense 0.00014137●●●●●●
3345. 179581891 c.25570G>A p.G8524R missense 0.00008321●●●●●●
3346. 179581883 c.25578C>A p.Y8526X nonsense 0.00000833●●●●●●
3347. 179581866 c.25595A>G p.N8532S missense 0.00001668●●●●●●
3348. 179581864 c.25597A>G p.I8533V missense 0.00003336●●●●●●
3349. 179581861 c.25600G>T p.A8534S missense 0.00001670●●●●●●
3350. 179581848 c.25613C>T p.S8538F missense 0.00001677●●●●●●
3351. 179581845 c.25616G>T p.C8539F missense 0.00026885●●●●●●
3352. 179581842 c.25619C>T p.S8540F missense 0.00051362●●●●●●
3353. 179581835 c.25626G>T p.Q8542H missense 0.03971046●●●●●●
3354. 179581824 c.25637A>C p.Q8546P missense 0.00000867●●●●●●
3355. 179581824 c.25637A>G p.Q8546R missense 0.00016465●●●●●●
3356. 179581820 c.25639+2T>G essential splice site 0.00000875●●●●●●
3357. 179581820 c.25639+2T>C essential splice site 0.00000875●●●●●●
3358. 179581818 c.25639+4C>T splice site 0.00000879●●●●●●
3359. 179580496 c.25645C>T p.P8549S missense 0.00004993●●●●●●
3360. 179580495 c.25646C>A p.P8549H missense 0.00002457●●●●●●
3361. 179580481 c.25660A>G p.K8554E missense 0.00032179●●●●●●
3362. 179580479 c.25662G>T p.K8554N missense 0.00014829●●●●●●
3363. 179580465 c.25676G>A p.R8559K missense 0.00001862●●●●●●
3364. 179580450 c.25691A>G p.D8564G missense 0.00003151●●●●●●
3365. 179580442 c.25699A>C p.T8567P missense 0.00001457●●●●●●
3366. 179580442 c.25699A>G p.T8567A missense 0.00002914●●●●●●
3367. 179580433 c.25708G>A p.E8570K missense 0.00003888●●●●●●
3368. 179580424 c.25717A>C p.I8573L missense 0.00002400●●●●●●
3369. 179580418 c.25723G>A p.G8575R missense 0.00002298●●●●●●
3370. 179580414 c.25727C>T p.S8576F missense 0.00001110●●●●●●
3371. 179580382 c.25759G>A p.E8587K missense 0.00000907●●●●●●
3372. 179580382 c.25759G>C p.E8587Q missense 0.00000907●●●●●●
3373. 179580362 c.25779C>A p.S8593R missense 0.00000851●●●●●●
3374. 179580360 c.25781G>A p.S8594N missense 0.00000848●●●●●●
3375. 179580357 c.25784A>G p.K8595R missense 0.00000845●●●●●●
3376. 179580347 c.25794G>A p.M8598I missense 0.00001678●●●●●●
3377. 179580345 c.25796C>A p.S8599X nonsense 0.00000838●●●●●●
3378. 179580340 c.25801G>T p.V8601F missense 0.00005016●●●●●●
3379. 179580340 c.25801G>A p.V8601I missense 0.00000836●●●●●●
3380. 179580334 c.25807T>C p.S8603P missense 0.00000834●●●●●●
3381. 179580333 c.25808C>T p.S8603L missense 0.00001669●●●●●●
3382. 179580324 c.25817T>G p.V8606G missense 0.00000832●●●●●●
3383. 179580321 c.25820T>C p.L8607P missense 0.00000832●●●●●●
3384. 179580312 c.25829A>G p.H8610R missense 0.00004154●●●●●●
3385. 179580311 c.25830C>G p.H8610Q missense 0.00002492●●●●●●
3386. 179580309 c.25832A>G p.N8611S missense 0.00001661●●●●●●
3387. 179580307 c.25834C>T p.L8612F missense 0.00000830●●●●●●
3388. 179580288 c.25853G>A p.G8618E missense 0.00003320●●●●●●
3389. 179580273 c.25868A>G p.E8623G missense 0.00000830●●●●●●
3390. 179580264 c.25877A>G p.N8626S missense 0.00008302●●●●●●
3391. 179580250 c.25891G>A p.A8631T missense 0.00003325●●●●●●
3392. 179580244 c.25897A>G p.S8633G missense 0.00000832●●●●●●
3393. 179580241 c.25900A>T p.S8634C missense 0.00000833●●●●●●
3394. 179580215 c.25921+5G>C splice site 0.00000850●●●●●●
3395. 179580213 c.25921+7G>A splice site 0.00001709●●●●●●
3396. 179580210 c.25921+10C>T splice site 0.07605923●●●●●●
3397. 179579991 c.25922A>G p.E8641G missense 0.00000865●●●●●●
3398. 179579986 c.25927C>T p.P8643S missense 0.00000856●●●●●●
3399. 179579985 c.25928C>G p.P8643R missense 0.00000855●●●●●●
3400. 179579982 c.25931T>C p.I8644T missense 0.00000851●●●●●●
3401. 179579977 c.25936C>T p.R8646C missense 0.01672862●●●●●●
3402. 179579976 c.25937G>A p.R8646H missense 0.00008441●●●●●●
3403. 179579971 c.25942A>G p.K8648E missense 0.00002520●●●●●●
3404. 179579963 c.25950T>A p.H8650Q missense 0.00000835●●●●●●
3405. 179579961 c.25952C>T p.P8651L missense 0.00000835●●●●●●
3406. 179579959 c.25954A>G p.I8652V missense 0.00001668●●●●●●
3407. 179579957 c.25956A>G p.I8652M missense 0.00013334●●●●●●
3408. 179579956 c.25957G>C p.E8653Q missense 0.00000833●●●●●●
3409. 179579952 c.25961C>T p.T8654I missense 0.00022474●●●●●●
3410. 179579949 c.25964T>C p.L8655P missense 0.00000832●●●●●●
3411. 179579938 c.25975G>A p.D8659N missense 0.00001661●●●●●●
3412. 179579935 c.25978G>A p.V8660I missense 0.00139391●●●●●●
3413. 179579907 c.26006C>T p.T8669I missense 0.00000828●●●●●●
3414. 179579904 c.26009C>A p.P8670H missense 0.00000828●●●●●●
3415. 179579893 c.26020G>A p.V8674I missense 0.00003313●●●●●●
3416. 179579885 c.26028delG p.Trp8676CysfsTer16 frameshift 0.00003313●●●●●●
3417. 179579883 c.26030A>G p.Y8677C missense 0.00000828●●●●●●
3418. 179579857 c.26056G>A p.G8686S missense 0.00011593●●●●●●
3419. 179579854 c.26059A>C p.K8687Q missense 0.00000828●●●●●●
3420. 179579844 c.26069A>G p.K8690R missense 0.00000828●●●●●●
3421. 179579833 c.26080G>C p.E8694Q missense 0.00000828●●●●●●
3422. 179579830 c.26083A>G p.N8695D missense 0.00001656●●●●●●
3423. 179579821 c.26092A>T p.T8698S missense 0.00000828●●●●●●
3424. 179579797 c.26116G>A p.D8706N missense 0.00001657●●●●●●
3425. 179579796 c.26117A>T p.D8706V missense 0.00000828●●●●●●
3426. 179579793 c.26120C>T p.A8707V missense 0.00001657●●●●●●
3427. 179579790 c.26123C>T p.A8708V missense 0.00003314●●●●●●
3428. 179579785 c.26128A>C p.I8710L missense 0.00000829●●●●●●
3429. 179579769 c.26144G>A p.C8715Y missense 0.00006646●●●●●●
3430. 179579769 c.26144G>T p.C8715F missense 0.00003323●●●●●●
3431. 179579758 c.26155A>G p.N8719D missense 0.00001667●●●●●●
3432. 179579753 c.26160T>G p.D8720E missense 0.00000835●●●●●●
3433. 179579752 c.26161G>A p.V8721M missense 0.00025926●●●●●●
3434. 179579743 c.26170G>T p.D8724Y missense 0.00001695●●●●●●
3435. 179579734 c.26179G>A p.V8727I missense 0.00002583●●●●●●
3436. 179579708 c.26200+5G>A splice site 0.00000890●●●●●●
3437. 179579309 c.26201-9T>C splice site 0.00000962●●●●●●
3438. 179579307 c.26201-7dupT splice site 0.00001921●●●●●●
3439. 179579305 c.26201-5A>T splice site 0.00010384●●●●●●
3440. 179579299 c.26202delA p.Pro8735HisfsTer5 frameshift 0.00000924●●●●●●
3441. 179579295 c.26206C>A p.P8736T missense 0.00000916●●●●●●
3442. 179579291 c.26210G>A p.R8737K missense 0.00000911●●●●●●
3443. 179579280 c.26221A>G p.K8741E missense 0.00016889●●●●●●
3444. 179579270 c.26231A>G p.D8744G missense 0.00003481●●●●●●
3445. 179579256 c.26245G>A p.V8749I missense 0.00480597●●●●●●
3446. 179579255 c.26246T>C p.V8749A missense 0.00007693●●●●●●
3447. 179579253 c.26248G>T p.G8750C missense 0.00000854●●●●●●
3448. 179579244 c.26257G>A p.V8753I missense 0.00000848●●●●●●
3449. 179579239 c.26262G>T p.Q8754H missense 0.00000846●●●●●●
3450. 179579234 c.26267A>G p.Q8756R missense 0.00000844●●●●●●
3451. 179579233 c.26268G>C p.Q8756H missense 0.00000844●●●●●●
3452. 179579225 c.26276T>C p.I8759T missense 0.00004208●●●●●●
3453. 179579220 c.26281G>A p.G8761S missense 0.00005042●●●●●●
3454. 179579208 c.26293A>G p.I8765V missense 0.00000835●●●●●●
3455. 179579207 c.26294T>C p.I8765T missense 0.00000835●●●●●●
3456. 179579196 c.26305T>G p.W8769G missense 0.00000834●●●●●●
3457. 179579177 c.26324A>C p.E8775A missense 0.00000833●●●●●●
3458. 179579175 c.26326A>C p.I8776L missense 0.00000833●●●●●●
3459. 179579172 c.26329G>A p.V8777I missense 0.00004165●●●●●●
3460. 179579167 c.26334A>C p.R8778S missense 0.00000833●●●●●●
3461. 179579162 c.26339G>A p.S8780N missense 0.00000832●●●●●●
3462. 179579161 c.26340T>G p.S8780R missense 0.00000832●●●●●●
3463. 179579152 c.26349A>G p.I8783M missense 0.00000832●●●●●●
3464. 179579151 c.26350T>C p.W8784R missense 0.00001664●●●●●●
3465. 179579133 c.26368A>G p.N8790D missense 0.00002492●●●●●●
3466. 179579127 c.26374G>T p.A8792S missense 0.00000831●●●●●●
3467. 179579126 c.26375C>A p.A8792E missense 0.00000831●●●●●●
3468. 179579124 c.26377A>G p.T8793A missense 0.00003323●●●●●●
3469. 179579121 c.26380T>A p.L8794I missense 0.00000830●●●●●●
3470. 179579121 c.26380T>G p.L8794V missense 0.00000830●●●●●●
3471. 179579108 c.26393G>C p.R8798T missense 0.00002490●●●●●●
3472. 179579099 c.26402C>T p.P8801L missense 0.00001659●●●●●●
3473. 179579093 c.26408A>G p.N8803S missense 0.17930085●●●●●●
3474. 179579091 c.26410G>T p.A8804S missense 0.00000829●●●●●●
3475. 179579088 c.26413G>A p.G8805R missense 0.00000829●●●●●●
3476. 179579076 c.26425T>C p.C8809R missense 0.00000829●●●●●●
3477. 179579071 c.26430G>C p.Q8810H missense 0.00001658●●●●●●
3478. 179579042 c.26459G>A p.C8820Y missense 0.00000830●●●●●●
3479. 179579037 c.26464G>A p.A8822T missense 0.00010813●●●●●●
3480. 179579036 c.26465C>T p.A8822V missense 0.00000832●●●●●●
3481. 179579033 c.26468C>T p.T8823M missense 0.00002496●●●●●●
3482. 179579025 c.26476G>A p.V8826I missense 0.00001669●●●●●●
3483. 179579020 c.26481C>T splice site 0.00002508●●●●●●
3484. 179579019 c.26482G>A p.E8828K missense 0.00000837●●●●●●
3485. 179578906 c.26483-4C>T splice site 0.00003351●●●●●●
3486. 179578900 c.26485C>T p.P8829S missense 0.00000836●●●●●●
3487. 179578891 c.26494A>G p.I8832V missense 0.00082616●●●●●●
3488. 179578890 c.26495T>C p.I8832T missense 0.00001668●●●●●●
3489. 179578879 c.26506C>T p.P8836S missense 0.00000833●●●●●●
3490. 179578857 c.26528C>T p.T8843M missense 0.00034988●●●●●●
3491. 179578848 c.26537C>A p.T8846N missense 0.00000833●●●●●●
3492. 179578834 c.26551T>G p.C8851G missense 0.00003334●●●●●●
3493. 179578830 c.26555C>A p.T8852K missense 0.00001668●●●●●●
3494. 179578828 c.26557G>C p.V8853L missense 0.00005003●●●●●●
3495. 179578822 c.26563G>A p.G8855S missense 0.00000835●●●●●●
3496. 179578821 c.26564G>T p.G8855V missense 0.00003339●●●●●●
3497. 179578813 c.26572G>C p.E8858Q missense 0.00000835●●●●●●
3498. 179578795 c.26590T>C p.F8864L missense 0.00003344●●●●●●
3499. 179578794 c.26591T>C p.F8864S missense 0.00000836●●●●●●
3500. 179578790 c.26595G>C p.K8865N missense 0.00005858●●●●●●
3501. 179578786 c.26599G>A p.G8867R missense 0.00003348●●●●●●
3502. 179578783 c.26602A>C p.K8868Q missense 0.00002509●●●●●●
3503. 179578780 c.26605G>A p.E8869K missense 0.00003349●●●●●●
3504. 179578767 c.26618A>G p.D8873G missense 0.00000837●●●●●●
3505. 179578766 c.26619C>A p.D8873E missense 0.00004183●●●●●●
3506. 179578713 c.26672A>G p.N8891S missense 0.00035064●●●●●●
3507. 179578711 c.26674G>A p.V8892I missense 0.00003340●●●●●●
3508. 179578704 c.26681C>T p.P8894L missense 0.07510496●●●●●●
3509. 179578701 c.26684G>A p.S8895N missense 0.00000836●●●●●●
3510. 179578701 c.26684G>C p.S8895T missense 0.00000836●●●●●●
3511. 179578690 c.26695G>T p.V8899L missense 0.00001673●●●●●●
3512. 179578667 c.26718C>A p.N8906K missense 0.00000838●●●●●●
3513. 179578666 c.26719C>G p.P8907A missense 0.00000838●●●●●●
3514. 179578657 c.26728A>C p.K8910Q missense 0.00000839●●●●●●
3515. 179578648 c.26737T>G p.C8913G missense 0.00001681●●●●●●
3516. 179578641 c.26744C>G p.A8915G missense 0.00001685●●●●●●
3517. 179578632 c.26753A>G p.Q8918R missense 0.00001692●●●●●●
3518. 179578630 c.26755G>A p.V8919I missense 0.00000848●●●●●●
3519. 179578620 c.26761+4G>A splice site 0.00001714●●●●●●
3520. 179578091 c.26770G>A p.V8924I missense 0.00004194●●●●●●
3521. 179578057 c.26804C>G p.T8935R missense 0.00002938●●●●●●
3522. 179578043 c.26818G>A p.G8940S missense 0.00043937●●●●●●
3523. 179578040 c.26821T>C p.S8941P missense 0.00002071●●●●●●
3524. 179578034 c.26827G>A p.V8943I missense 0.00026347●●●●●●
3525. 179578031 c.26830G>A p.V8944I missense 0.00001656●●●●●●
3526. 179578026 c.26835G>A p.M8945I missense 0.00001540●●●●●●
3527. 179578022 c.26839T>A p.C8947S missense 0.00001471●●●●●●
3528. 179578012 c.26849A>G p.Y8950C missense 0.00050386●●●●●●
3529. 179578004 c.26857C>T p.P8953S missense 0.00003614●●●●●●
3530. 179578000 c.26861C>T p.P8954L missense 0.00001147●●●●●●
3531. 179577998 c.26863A>G p.I8955V missense 0.00429957●●●●●●
3532. 179577994 c.26867C>T p.S8956F missense 0.00001097●●●●●●
3533. 179577988 c.26873C>T p.S8958F missense 0.00002071●●●●●●
3534. 179577979 c.26882A>G p.H8961R missense 0.00000981●●●●●●
3535. 179577968 c.26893G>A p.E8965K missense 0.00010310●●●●●●
3536. 179577950 c.26911A>G p.K8971E missense 0.00000881●●●●●●
3537. 179577937 c.26924C>T p.T8975I missense 0.00000859●●●●●●
3538. 179577937 c.26924C>A p.T8975N missense 0.00000859●●●●●●
3539. 179577929 c.26932G>C p.D8978H missense 0.00000850●●●●●●
3540. 179577926 c.26935A>C p.N8979H missense 0.00015257●●●●●●
3541. 179577925 c.26936A>G p.N8979S missense 0.00001694●●●●●●
3542. 179577922 c.26939C>T p.T8980I missense 0.00001691●●●●●●
3543. 179577882 c.26979T>G p.S8993R missense 0.00004997●●●●●●
3544. 179577877 c.26984A>G p.D8995G missense 0.00002497●●●●●●
3545. 179577876 c.26985C>A p.D8995E missense 0.00006659●●●●●●
3546. 179577866 c.26995A>G p.I8999V missense 0.00000832●●●●●●
3547. 179577839 c.27022G>A p.E9008K missense 0.00000833●●●●●●
3548. 179577836 c.27025T>C p.C9009R missense 0.00001665●●●●●●
3549. 179577836 c.27025T>A p.C9009S missense 0.00001665●●●●●●
3550. 179577830 c.27031G>C p.A9011P missense 0.00000833●●●●●●
3551. 179577830 c.27031G>A p.A9011T missense 0.00000833●●●●●●
3552. 179577814 c.27047G>A p.R9016K missense 0.00000837●●●●●●
3553. 179577708 c.27050-6G>A splice site 0.00005190●●●●●●
3554. 179577689 c.27063T>A p.F9021L missense 0.00000861●●●●●●
3555. 179577649 c.27103A>C p.N9035H missense 0.00000856●●●●●●
3556. 179577634 c.27118A>G p.S9040G missense 0.00000853●●●●●●
3557. 179577628 c.27124G>A p.V9042I missense 0.00005114●●●●●●
3558. 179577616 c.27136C>T p.P9046S missense 0.00000847●●●●●●
3559. 179577597 c.27155G>C p.W9052S missense 0.00000840●●●●●●
3560. 179577594 c.27158T>C p.F9053S missense 0.00000840●●●●●●
3561. 179577589 c.27163G>C p.G9055R missense 0.00000839●●●●●●
3562. 179577582 c.27170G>A p.S9057N missense 0.00004183●●●●●●
3563. 179577576 c.27176T>G p.L9059R missense 0.00000835●●●●●●
3564. 179577571 c.27181C>G p.P9061A missense 0.00000835●●●●●●
3565. 179577559 c.27193T>C p.C9065R missense 0.00004167●●●●●●
3566. 179577559 c.27193T>G p.C9065G missense 0.00000833●●●●●●
3567. 179577554 c.27198C>G p.N9066K missense 0.00024992●●●●●●
3568. 179577553 c.27199G>A p.V9067M missense 0.00001666●●●●●●
3569. 179577535 c.27217G>C p.V9073L missense 0.00001663●●●●●●
3570. 179577508 c.27244G>C p.D9082H missense 0.00001661●●●●●●
3571. 179577502 c.27250T>A p.S9084T missense 0.00000830●●●●●●
3572. 179577472 c.27280A>G p.S9094G missense 0.00002490●●●●●●
3573. 179577464 c.27288A>T p.E9096D missense 0.00000830●●●●●●
3574. 179577460 c.27292G>A p.G9098S missense 0.00001661●●●●●●
3575. 179577454 c.27298G>T p.A9100S missense 0.00002491●●●●●●
3576. 179577447 c.27305G>A p.C9102Y missense 0.00000831●●●●●●
3577. 179577439 c.27313C>T p.H9105Y missense 0.00000831●●●●●●
3578. 179577423 c.27328+1G>A essential splice site 0.00002500●●●●●●
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3583. 179577287 c.27362A>G p.Y9121C missense 0.00000850●●●●●●
3584. 179577274 c.27375A>T p.K9125N missense 0.00000848●●●●●●
3585. 179577251 c.27398G>T p.G9133V missense 0.00000842●●●●●●
3586. 179577233 c.27416C>T p.P9139L missense 0.00002506●●●●●●
3587. 179577230 c.27419C>T p.P9140L missense 0.00000834●●●●●●
3588. 179577224 c.27425C>T p.S9142L missense 0.00000833●●●●●●
3589. 179577224 c.27425_27426insCCATTTC p.Val9143HisfsTer19 frameshift 0.00000833●●●●●●
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3591. 179577203 c.27446G>C p.G9149A missense 0.00000830●●●●●●
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3593. 179577195 c.27454G>A p.V9152I missense 0.00001660●●●●●●
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3596. 179577152 c.27497C>T p.S9166L missense 0.00000829●●●●●●
3597. 179577149 c.27500C>A p.A9167E missense 0.00000829●●●●●●
3598. 179577143 c.27506T>C p.L9169P missense 0.00000829●●●●●●
3599. 179577116 c.27533A>G p.D9178G missense 0.00000828●●●●●●
3600. 179577107 c.27542A>C p.Q9181P missense 0.00000828●●●●●●
3601. 179577104 c.27545A>G p.Y9182C missense 0.00001657●●●●●●
3602. 179577104 c.27545A>T p.Y9182F missense 0.00000828●●●●●●
3603. 179577103 c.27546C>A p.Y9182X nonsense 0.00000828●●●●●●
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3605. 179577078 c.27571G>A p.G9191R missense 0.00000829●●●●●●
3606. 179577069 c.27580T>G p.S9194A missense 0.00002487●●●●●●
3607. 179577066 c.27583T>C p.C9195R missense 0.00002488●●●●●●
3608. 179577057 c.27592C>G p.Q9198E missense 0.00010791●●●●●●
3609. 179577056 c.27593A>G p.Q9198R missense 0.00008301●●●●●●
3610. 179577050 c.27599T>G p.L9200R missense 0.00001662●●●●●●
3611. 179577042 c.27607G>A p.E9203K missense 0.00000832●●●●●●
3612. 179576946 c.27611C>T p.P9204L missense 0.00000833●●●●●●
3613. 179576943 c.27614C>T p.P9205L missense 0.00000833●●●●●●
3614. 179576938 c.27619T>G p.F9207V missense 0.00001665●●●●●●
3615. 179576935 c.27622G>C p.V9208L missense 0.00002499●●●●●●
3616. 179576934 c.27623T>C p.V9208A missense 0.00003331●●●●●●
3617. 179576932 c.27625A>G p.K9209E missense 0.00010821●●●●●●
3618. 179576931 c.27626A>G p.K9209R missense 0.00000833●●●●●●
3619. 179576929 c.27628C>G p.Q9210E missense 0.00000832●●●●●●
3620. 179576926 c.27631_27636delTTGGAG p.Leu9211_Glu9212del inframe 0.00000833●●●●●●
3621. 179576923 c.27634G>A p.E9212K missense 0.00000832●●●●●●
3622. 179576919 c.27638C>T p.P9213L missense 0.00000833●●●●●●
3623. 179576905 c.27652G>T p.V9218F missense 0.00006659●●●●●●
3624. 179576899 c.27658G>A p.D9220N missense 0.00000832●●●●●●
3625. 179576890 c.27667T>C p.S9223P missense 0.00018313●●●●●●
3626. 179576889 c.27668C>T p.S9223F missense 0.00000833●●●●●●
3627. 179576880 c.27677G>A p.C9226Y missense 0.00003331●●●●●●
3628. 179576874 c.27683T>C p.L9228P missense 0.00000833●●●●●●
3629. 179576851 c.27706G>A p.V9236I missense 0.00000833●●●●●●
3630. 179576848 c.27709T>G p.S9237A missense 0.00009158●●●●●●
3631. 179576842 c.27715T>C p.Y9239H missense 0.00004160●●●●●●
3632. 179576833 c.27724G>T p.D9242Y missense 0.00001662●●●●●●
3633. 179576817 c.27740C>T p.P9247L missense 0.00000830●●●●●●
3634. 179576814 c.27743C>T p.T9248I missense 0.00000830●●●●●●
3635. 179576811 c.27746C>T p.T9249M missense 0.00001660●●●●●●
3636. 179576783 c.27774T>G p.N9258K missense 0.00002488●●●●●●
3637. 179576779 c.27778G>T p.A9260S missense 0.00000829●●●●●●
3638. 179576764 c.27793A>C p.N9265H missense 0.00002488●●●●●●
3639. 179576763 c.27794A>G p.N9265S missense 0.00001659●●●●●●
3640. 179576757 c.27800T>C p.V9267A missense 0.00000830●●●●●●
3641. 179576755 c.27802G>A p.D9268N missense 0.00000830●●●●●●
3642. 179576752 c.27805A>G p.I9269V missense 0.00000830●●●●●●
3643. 179576748 c.27809A>G p.N9270S missense 0.00000830●●●●●●
3644. 179576742 c.27815G>C p.S9272T missense 0.00001661●●●●●●
3645. 179576733 c.27824A>G p.Y9275C missense 0.00012478●●●●●●
3646. 179576713 c.27844A>C p.S9282R missense 0.00000844●●●●●●
3647. 179576710 c.27847G>A p.V9283M missense 0.00017852●●●●●●
3648. 179576706 c.27851G>A p.G9284E missense 0.00000857●●●●●●
3649. 179576702 c.27855A>C p.E9285D missense 0.00000863●●●●●●
3650. 179576701 c.27856G>T p.V9286F missense 0.00003459●●●●●●
3651. 179576700 c.27857T>C p.V9286A missense 0.00000866●●●●●●
3652. 179576685 c.27872T>C p.F9291S missense 0.00002650●●●●●●
3653. 179576677 c.27880G>A p.V9294I missense 0.00001788●●●●●●
3654. 179576672 c.27885A>G splice site 0.00000897●●●●●●
3655. 179576668 c.27886+3G>A splice site 0.00011727●●●●●●
3656. 179576665 c.27886+6T>G splice site 0.00000904●●●●●●
3657. 179576071 c.27892A>G p.K9298E missense 0.00001721●●●●●●
3658. 179576061 c.27902C>T p.P9301L missense 0.00000852●●●●●●
3659. 179576049 c.27914G>A p.R9305Q missense 0.00015197●●●●●●
3660. 179576035 c.27928G>A p.V9310I missense 0.00015852●●●●●●
3661. 179576022 c.27941T>C p.V9314A missense 0.00000831●●●●●●
3662. 179576022 c.27941T>A p.V9314D missense 0.00000831●●●●●●
3663. 179576016 c.27947T>G p.L9316R missense 0.00015771●●●●●●
3664. 179576011 c.27952G>T p.V9318F missense 0.00001659●●●●●●
3665. 179576004 c.27959T>C p.F9320S missense 0.00000829●●●●●●
3666. 179576002 c.27961G>T p.D9321Y missense 0.00000829●●●●●●
3667. 179575993 c.27970A>G p.I9324V missense 0.00000829●●●●●●
3668. 179575992 c.27971T>C p.I9324T missense 0.00000829●●●●●●
3669. 179575986 c.27977G>T p.G9326V missense 0.00000828●●●●●●
3670. 179575975 c.27988A>G p.I9330V missense 0.00001656●●●●●●
3671. 179575973 c.27990C>G p.I9330M missense 0.00000828●●●●●●
3672. 179575969 c.27994G>A p.V9332M missense 0.00000828●●●●●●
3673. 179575959 c.28004A>G p.Y9335C missense 0.00000828●●●●●●
3674. 179575951 c.28012G>A p.G9338S missense 0.00002485●●●●●●
3675. 179575917 c.28046C>T p.T9349I missense 0.00000828●●●●●●
3676. 179575908 c.28055T>C p.L9352S missense 0.00012423●●●●●●
3677. 179575899 c.28064C>T p.T9355I missense 0.00000828●●●●●●
3678. 179575893 c.28070C>T p.T9357I missense 0.00043079●●●●●●
3679. 179575884 c.28079T>G p.I9360S missense 0.00001657●●●●●●
3680. 179575879 c.28084A>G p.K9362E missense 0.00000829●●●●●●
3681. 179575871 c.28092C>G p.D9364E missense 0.00000830●●●●●●
3682. 179575870 c.28093C>T p.R9365W missense 0.00012446●●●●●●
3683. 179575869 c.28094G>A p.R9365Q missense 0.00002490●●●●●●
3684. 179575865 c.28098C>G p.S9366R missense 0.00001661●●●●●●
3685. 179575864 c.28099C>T p.L9367F missense 0.00002493●●●●●●
3686. 179575846 c.28117T>C p.C9373R missense 0.00000837●●●●●●
3687. 179575846 c.28117T>G p.C9373G missense 0.00000837●●●●●●
3688. 179575836 c.28127C>G p.T9376R missense 0.00005062●●●●●●
3689. 179575832 c.28131C>A p.N9377K missense 0.00004230●●●●●●
3690. 179575825 c.28138G>C p.G9380R missense 0.00000852●●●●●●
3691. 179575821 c.28142C>G p.S9381C missense 0.00000856●●●●●●
3692. 179575812 c.28151C>G p.S9384C missense 0.00000865●●●●●●
3693. 179575657 c.28175-8A>G splice site 0.00000850●●●●●●
3694. 179575655 c.28175-6T>C splice site 0.00007641●●●●●●
3695. 179575647 c.28177G>A p.G9393R missense 0.00001689●●●●●●
3696. 179575639 c.28185C>G p.N9395K missense 0.00002517●●●●●●
3697. 179575638 c.28186C>T p.P9396S missense 0.00000839●●●●●●
3698. 179575637 c.28187C>T p.P9396L missense 0.00012573●●●●●●
3699. 179575620 c.28204C>T p.R9402C missense 0.00002496●●●●●●
3700. 179575619 c.28205G>A p.R9402H missense 0.00012474●●●●●●
3701. 179575617 c.28207C>G p.L9403V missense 0.00000831●●●●●●
3702. 179575602 c.28222G>A p.A9408T missense 0.00000829●●●●●●
3703. 179575592 c.28232G>A p.G9411E missense 0.00003316●●●●●●
3704. 179575589 c.28235A>G p.E9412G missense 0.00000829●●●●●●
3705. 179575572 c.28252T>C p.C9418R missense 0.00000829●●●●●●
3706. 179575567 c.28257C>A p.H9419Q missense 0.00000829●●●●●●
3707. 179575566 c.28258G>A p.V9420I missense 0.00002486●●●●●●
3708. 179575562 c.28262C>T p.T9421M missense 0.00010772●●●●●●
3709. 179575554 c.28270C>A p.Q9424K missense 0.00000829●●●●●●
3710. 179575550 c.28274C>G p.P9425R missense 0.00001657●●●●●●
3711. 179575550 c.28274C>T p.P9425L missense 0.00000829●●●●●●
3712. 179575527 c.28297G>C p.D9433H missense 0.00000828●●●●●●
3713. 179575525 c.28299C>G p.D9433E missense 0.00004142●●●●●●
3714. 179575523 c.28301G>T p.S9434I missense 0.00000828●●●●●●
3715. 179575511 c.28313G>A p.R9438Q missense 0.04511639●●●●●●
3716. 179575503 c.28321G>A p.G9441R missense 0.00001657●●●●●●
3717. 179575470 c.28354G>A p.A9452T missense 0.00006627●●●●●●
3718. 179575470 c.28354G>C p.A9452P missense 0.00001657●●●●●●
3719. 179575458 c.28366G>T p.V9456F missense 0.00000828●●●●●●
3720. 179575448 c.28376T>C p.V9459A missense 0.00000828●●●●●●
3721. 179575437 c.28387G>T p.D9463Y missense 0.00000828●●●●●●
3722. 179575437 c.28387G>A p.D9463N missense 0.00000828●●●●●●
3723. 179575431 c.28393G>C p.G9465R missense 0.00000828●●●●●●
3724. 179575415 c.28409A>G p.Y9470C missense 0.00000828●●●●●●
3725. 179575401 c.28423G>C p.V9475L missense 0.00000829●●●●●●
3726. 179575367 c.28457T>C p.I9486T missense 0.00000838●●●●●●
3727. 179575364 c.28460A>C p.K9487T missense 0.00000840●●●●●●
3728. 179575356 c.28462+6G>A splice site 0.00000851●●●●●●
3729. 179575356 c.28462+6G>T splice site 0.00000851●●●●●●
3730. 179575351 c.28462+11T>C splice site 0.00023990●●●●●●
3731. 179574587 c.28463-4A>G splice site 0.00000848●●●●●●
3732. 179574586 c.28463-3T>C splice site 0.00000847●●●●●●
3733. 179574581 c.28465C>T p.R9489W missense 0.00003377●●●●●●
3734. 179574580 c.28466G>A p.R9489Q missense 0.00003375●●●●●●
3735. 179574572 c.28474C>A p.P9492T missense 0.00000838●●●●●●
3736. 179574569 c.28477C>A p.P9493T missense 0.00000836●●●●●●
3737. 179574554 c.28492A>T p.R9498X nonsense 0.00000832●●●●●●
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3743. 179574479 c.28567A>T p.I9523L missense 0.00000828●●●●●●
3744. 179574466 c.28580G>C p.W9527S missense 0.00000828●●●●●●
3745. 179574466 c.28580G>A p.W9527X nonsense 0.00000828●●●●●●
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3752. 179574403 c.28643C>T p.T9548M missense 0.00001657●●●●●●
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3765. 179574307 c.28739C>T p.S9580L missense 0.00000840●●●●●●
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3779. 179572465 c.28829G>A p.S9610N missense 0.00004974●●●●●●
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3782. 179572451 c.28843G>A p.G9615R missense 0.00000829●●●●●●
3783. 179572450 c.28844G>T p.G9615V missense 0.00000829●●●●●●
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3788. 179572324 c.28970C>T p.S9657L missense 0.00034289●●●●●●
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3790. 179572277 c.29017A>G p.T9673A missense 0.00000849●●●●●●
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3795. 179571652 c.29071A>G p.K9691E missense 0.00001048●●●●●●
3796. 179571640 c.29083G>A p.D9695N missense 0.00001009●●●●●●
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3798. 179571598 c.29125G>A p.V9709I missense 0.00001938●●●●●●
3799. 179571595 c.29128G>A p.V9710I missense 0.00170675●●●●●●
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3802. 179571457 c.29144C>T p.A9715V missense 0.00000830●●●●●●
3803. 179571454 c.29147C>T p.T9716I missense 0.00000830●●●●●●
3804. 179571449 c.29152A>G p.I9718V missense 0.00001659●●●●●●
3805. 179571448 c.29153T>C p.I9718T missense 0.07969968●●●●●●
3806. 179571448 c.29153T>G p.I9718S missense 0.00001659●●●●●●
3807. 179571443 c.29158A>G p.K9720E missense 0.00001659●●●●●●
3808. 179571431 c.29170G>A p.D9724N missense 0.00002487●●●●●●
3809. 179571425 c.29176A>G p.I9726V missense 0.00003316●●●●●●
3810. 179571418 c.29183A>G p.N9728S missense 0.00004144●●●●●●
3811. 179571396 c.29205G>T p.K9735N missense 0.00000828●●●●●●
3812. 179571382 c.29219A>G p.N9740S missense 0.00001656●●●●●●
3813. 179571381 c.29220C>A p.N9740K missense 0.00001656●●●●●●
3814. 179571381 c.29220C>G p.N9740K missense 0.00000828●●●●●●
3815. 179571380 c.29221C>A p.Q9741K missense 0.00001656●●●●●●
3816. 179571374 c.29227G>A p.G9743S missense 0.00000828●●●●●●
3817. 179571371 c.29230C>T p.R9744C missense 0.00006625●●●●●●
3818. 179571356 c.29245C>T p.Q9749X nonsense 0.00000828●●●●●●
3819. 179571349 c.29252G>T p.G9751V missense 0.00001656●●●●●●
3820. 179571323 c.29278G>C p.D9760H missense 0.00001656●●●●●●
3821. 179571323 c.29278G>A p.D9760N missense 0.00001656●●●●●●
3822. 179571320 c.29281A>G p.T9761A missense 0.00000828●●●●●●
3823. 179571319 c.29282C>G p.T9761S missense 0.00000828●●●●●●
3824. 179571296 c.29305T>C p.Y9769H missense 0.00000828●●●●●●
3825. 179571287 c.29314G>A p.V9772M missense 0.00006625●●●●●●
3826. 179571284 c.29317G>A p.A9773T missense 0.00005797●●●●●●
3827. 179571275 c.29326G>A p.E9776K missense 0.00002485●●●●●●
3828. 179571268 c.29333G>C p.G9778A missense 0.00002485●●●●●●
3829. 179571238 c.29363T>G p.V9788G missense 0.00000830●●●●●●
3830. 179571236 c.29365G>A p.D9789N missense 0.00001661●●●●●●
3831. 179571231 c.29370A>T p.E9790D missense 0.00000832●●●●●●
3832. 179571211 c.29390T>C p.I9797T missense 0.00001708●●●●●●
3833. 179571206 c.29395G>A p.G9799S missense 0.00000870●●●●●●
3834. 179571180 c.29420+1G>C essential splice site 0.00001257●●●●●●
3835. 179570090 c.29421-6A>G splice site 0.00003386●●●●●●
3836. 179570076 c.29429T>C p.I9810T missense 0.00003676●●●●●●
3837. 179570071 c.29434A>C p.K9812Q missense 0.00001637●●●●●●
3838. 179570051 c.29454_29456delAGA p.Glu9820del inframe 0.00007086●●●●●●
3839. 179570041 c.29464G>T p.D9822Y missense 0.00004352●●●●●●
3840. 179570038 c.29467A>G p.I9823V missense 0.00001054●●●●●●
3841. 179570036 c.29469_29471delCAT p.Ile9823del inframe 0.00001014●●●●●●
3842. 179570029 c.29476C>A p.L9826I missense 0.00001954●●●●●●
3843. 179570019 c.29486A>G p.N9829S missense 0.00000907●●●●●●
3844. 179570013 c.29492A>T p.D9831V missense 0.00000883●●●●●●
3845. 179569986 c.29519G>A p.R9840H missense 0.00001666●●●●●●
3846. 179569972 c.29533A>C p.T9845P missense 0.00000830●●●●●●
3847. 179569962 c.29543G>A p.R9848Q missense 0.00003317●●●●●●
3848. 179569932 c.29573A>G p.K9858R missense 0.00000829●●●●●●
3849. 179569915 c.29590G>A p.E9864K missense 0.00000829●●●●●●
3850. 179569913 c.29592G>C p.E9864D missense 0.00000829●●●●●●
3851. 179569699 c.29605-6_29605-4delTCT splice site 0.00000829●●●●●●
3852. 179569697 c.29605-4T>C splice site 0.00000829●●●●●●
3853. 179569690 c.29608A>G p.I9870V missense 0.00000829●●●●●●
3854. 179569689 c.29609T>C p.I9870T missense 0.00000829●●●●●●
3855. 179569678 c.29620G>C p.E9874Q missense 0.00000829●●●●●●
3856. 179569677 c.29621_29624delAGAG p.Glu9874GlyfsTer28 frameshift 0.00000829●●●●●●
3857. 179569665 c.29633G>A p.R9878K missense 0.00000829●●●●●●
3858. 179569661 c.29637C>G p.D9879E missense 0.00000829●●●●●●
3859. 179569660 c.29638G>A p.E9880K missense 0.00002486●●●●●●
3860. 179569619 c.29679A>T p.R9893S missense 0.00000829●●●●●●
3861. 179569615 c.29683T>C p.S9895P missense 0.00001659●●●●●●
3862. 179569503 c.29696C>T p.P9899L missense 0.00000848●●●●●●
3863. 179569483 c.29716A>G p.I9906V missense 0.00000853●●●●●●
3864. 179569482 c.29717T>C p.I9906T missense 0.00000854●●●●●●
3865. 179569478 c.29721A>C p.E9907D missense 0.00000856●●●●●●
3866. 179569452 c.29747A>G p.D9916G missense 0.00000872●●●●●●
3867. 179569437 c.29762T>C p.I9921T missense 0.00006180●●●●●●
3868. 179569422 c.29777A>C p.N9926T missense 0.00000893●●●●●●
3869. 179569422 c.29777A>T p.N9926I missense 0.00001786●●●●●●
3870. 179569411 c.29788A>G p.I9930V missense 0.00000894●●●●●●
3871. 179569410 c.29789T>G p.I9930S missense 0.00001789●●●●●●
3872. 179569405 c.29794C>A p.L9932I missense 0.00000894●●●●●●
3873. 179569401 c.29798C>T p.S9933L missense 0.00001789●●●●●●
3874. 179569399 c.29800T>C p.W9934R missense 0.00000894●●●●●●
3875. 179569387 c.29812A>T p.T9938S missense 0.01988002●●●●●●
3876. 179569384 c.29815G>C p.E9939Q missense 0.00001788●●●●●●
3877. 179569368 c.29831G>C p.S9944T missense 0.00000890●●●●●●
3878. 179569368 c.29831G>A p.S9944N missense 0.00000890●●●●●●
3879. 179569365 c.29834A>G p.D9945G missense 0.00000889●●●●●●
3880. 179569345 c.29854G>C p.D9952H missense 0.00000884●●●●●●
3881. 179569342 c.29857G>A p.G9953S missense 0.00000884●●●●●●
3882. 179569335 c.29864G>A p.R9955Q missense 0.00001764●●●●●●
3883. 179569318 c.29881A>G p.K9961E missense 0.00000872●●●●●●
3884. 179569317 c.29882A>G p.K9961R missense 0.00001741●●●●●●
3885. 179569312 c.29887T>G p.C9963G missense 0.00003470●●●●●●
3886. 179569300 c.29899G>A p.D9967N missense 0.00000861●●●●●●
3887. 179569293 c.29906G>A p.G9969D missense 0.00001714●●●●●●
3888. 179569284 c.29915G>A p.R9972Q missense 0.00000852●●●●●●
3889. 179569261 c.29938G>A p.A9980T missense 0.00061577●●●●●●
3890. 179569261 c.29938G>T p.A9980S missense 0.00001687●●●●●●
3891. 179569255 c.29944G>A p.A9982T missense 0.00005067●●●●●●
3892. 179569239 c.29960T>A p.I9987N missense 0.00000845●●●●●●
3893. 179569236 c.29962+1G>T essential splice site 0.00003384●●●●●●
3894. 179569134 c.29963A>G p.E9988G missense 0.00000835●●●●●●
3895. 179569120 c.29977C>T p.R9993W missense 0.00002496●●●●●●
3896. 179569098 c.29999T>C p.L10000P missense 0.00001657●●●●●●
3897. 179569094 c.30003A>C p.K10001N missense 0.00000829●●●●●●
3898. 179569057 c.30040G>C p.V10014L missense 0.00000828●●●●●●
3899. 179569054 c.30043C>T p.P10015S missense 0.00000828●●●●●●
3900. 179569042 c.30055T>C p.S10019P missense 0.00000828●●●●●●
3901. 179569042 c.30055T>G p.S10019A missense 0.00002484●●●●●●
3902. 179569037 c.30060A>C p.E10020D missense 0.00000828●●●●●●
3903. 179569017 c.30080T>C p.I10027T missense 0.00000828●●●●●●
3904. 179569009 c.30088C>T p.P10030S missense 0.00002484●●●●●●
3905. 179569006 c.30091C>T p.Q10031X nonsense 0.00000828●●●●●●
3906. 179568963 c.30134T>G p.L10045W missense 0.00000828●●●●●●
3907. 179568961 c.30136A>G p.T10046A missense 0.00000828●●●●●●
3908. 179568960 c.30137C>T p.T10046I missense 0.00004968●●●●●●
3909. 179568945 c.30152G>A p.R10051Q missense 0.00002484●●●●●●
3910. 179568945 c.30152G>C p.R10051P missense 0.00000828●●●●●●
3911. 179568943 c.30154G>A p.A10052T missense 0.00001656●●●●●●
3912. 179568928 c.30169C>T p.Q10057X nonsense 0.00000828●●●●●●
3913. 179568916 c.30181A>C p.K10061Q missense 0.00012422●●●●●●
3914. 179568911 c.30186T>G p.Y10062X nonsense 0.00001656●●●●●●
3915. 179568901 c.30196G>C p.E10066Q missense 0.00000828●●●●●●
3916. 179568894 c.30203C>T p.S10068L missense 0.00000828●●●●●●
3917. 179568873 c.30223+1G>A essential splice site 0.00000831●●●●●●
3918. 179568869 c.30223+5G>A splice site 0.00002503●●●●●●
3919. 179568869 c.30223+5G>C splice site 0.00000834●●●●●●
3920. 179567398 c.30224-8T>G splice site 0.00392632●●●●●●
3921. 179567398 c.30224-8T>A splice site 0.00001730●●●●●●
3922. 179567397 c.30224-7T>G splice site 0.00011211●●●●●●
3923. 179567388 c.30226G>A p.E10076K missense 0.00001688●●●●●●
3924. 179567384 c.30230C>T p.P10077L missense 0.00006718●●●●●●
3925. 179567378 c.30236A>G p.Q10079R missense 0.00000835●●●●●●
3926. 179567367 c.30247C>T p.R10083C missense 0.00004160●●●●●●
3927. 179567366 c.30248G>T p.R10083L missense 0.00000832●●●●●●
3928. 179567352 c.30262G>A p.V10088M missense 0.00001659●●●●●●
3929. 179567340 c.30274C>T p.H10092Y missense 0.00414319●●●●●●
3930. 179567334 c.30280T>C p.S10094P missense 0.00000829●●●●●●
3931. 179567331 c.30283G>A p.A10095T missense 0.00002485●●●●●●
3932. 179567316 c.30298G>A p.E10100K missense 0.00000828●●●●●●
3933. 179567271 c.30343A>G p.T10115A missense 0.00000828●●●●●●
3934. 179567270 c.30344C>A p.T10115K missense 0.00000828●●●●●●
3935. 179567259 c.30355G>C p.E10119Q missense 0.00009108●●●●●●
3936. 179567234 c.30380A>T p.N10127I missense 0.00000828●●●●●●
3937. 179567226 c.30388_30390delCGC p.Arg10130del inframe 0.00000828●●●●●●
3938. 179567225 c.30389G>A p.R10130H missense 0.00023192●●●●●●
3939. 179567210 c.30404C>T p.T10135I missense 0.00000828●●●●●●
3940. 179567202 c.30412A>C p.N10138H missense 0.00006626●●●●●●
3941. 179567186 c.30428A>G p.D10143G missense 0.00000829●●●●●●
3942. 179567174 c.30433+7delT splice site 0.00000829●●●●●●
3943. 179567170 c.30433+11T>G splice site 0.00058036●●●●●●
3944. 179566974 c.30434-2A>G essential splice site 0.00000829●●●●●●
3945. 179566969 c.30437T>A p.V10146D missense 0.00001658●●●●●●
3946. 179566963 c.30443C>T p.S10148L missense 0.00004143●●●●●●
3947. 179566956 c.30450C>G p.I10150M missense 0.00000828●●●●●●
3948. 179566951 c.30455G>A p.R10152Q missense 0.00003314●●●●●●
3949. 179566945 c.30461A>G p.E10154G missense 0.00000828●●●●●●
3950. 179566921 c.30485C>T p.T10162M missense 0.00044724●●●●●●
3951. 179566903 c.30503C>T p.T10168M missense 0.00002485●●●●●●
3952. 179566900 c.30506C>T p.T10169M missense 0.00000828●●●●●●
3953. 179566892 c.30511+3G>A splice site 0.00009940●●●●●●
3954. 179566889 c.30511+6G>T splice site 0.00000828●●●●●●
3955. 179566798 c.30512-5delT splice site 0.00001042●●●●●●
3956. 179566793 c.30512A>G p.E10171G missense 0.00002074●●●●●●
3957. 179566792 c.30513A>T p.E10171D missense 0.00015595●●●●●●
3958. 179566790 c.30515T>C p.I10172T missense 0.00001041●●●●●●
3959. 179566782 c.30523G>A p.E10175K missense 0.00001052●●●●●●
3960. 179566322 c.30539-8C>T splice site 0.00000829●●●●●●
3961. 179566318 c.30539-4C>A splice site 0.00001657●●●●●●
3962. 179566315 c.30539-1G>A essential splice site 0.00000829●●●●●●
3963. 179566299 c.30554G>C p.R10185T missense 0.00000829●●●●●●
3964. 179566256 c.30597A>C p.E10199D missense 0.00001662●●●●●●
3965. 179566255 c.30598G>C p.E10200Q missense 0.00004157●●●●●●
3966. 179566252 c.30598+3A>T splice site 0.00001664●●●●●●
3967. 179566249 c.30598+6A>G splice site 0.00000833●●●●●●
3968. 179566247 c.30598+8C>T splice site 0.00000833●●●●●●
3969. 179565924 c.30605C>T p.P10202L missense 0.00001658●●●●●●
3970. 179565912 c.30617C>T p.A10206V missense 0.00000828●●●●●●
3971. 179565910 c.30619C>G p.P10207A missense 0.00002485●●●●●●
3972. 179565906 c.30623C>T p.P10208L missense 0.00000828●●●●●●
3973. 179565901 c.30628C>T p.P10210S missense 0.00000828●●●●●●
3974. 179565900 c.30629C>G p.P10210R missense 0.00004969●●●●●●
3975. 179565900 c.30629C>T p.P10210L missense 0.00000828●●●●●●
3976. 179565855 c.30674G>A p.R10225H missense 0.00000828●●●●●●
3977. 179565840 c.30682+7T>C splice site 0.00001656●●●●●●
3978. 179563611 c.30713A>G p.K10238R missense 0.00017671●●●●●●
3979. 179563609 c.30715A>G p.K10239E missense 0.00004416●●●●●●
3980. 179563607 c.30717A>C p.K10239N missense 0.00008828●●●●●●
3981. 179563606 c.30718G>T p.V10240F missense 0.00088300●●●●●●
3982. 179563578 c.30746C>T p.P10249L missense 0.00004429●●●●●●
3983. 179561853 c.30797C>A p.A10266E missense 0.00004487●●●●●●
3984. 179560996 c.30803C>T p.A10268V missense 0.00004506●●●●●●
3985. 179560988 c.30811A>G p.I10271V missense 0.00004190●●●●●●
3986. 179560942 c.30857T>C p.I10286T missense 0.00014351●●●●●●
3987. 179560934 c.30865A>G p.K10289E missense 0.00003630●●●●●●
3988. 179560867 c.30932G>C p.R10311T missense 0.00004335●●●●●●
3989. 179560847 c.30952G>A p.E10318K missense 0.01455668●●●●●●
3990. 179560837 c.30962A>T p.Y10321F missense 0.00004439●●●●●●
3991. 179560805 c.30994C>G p.P10332A missense 0.00053581●●●●●●
3992. 179560739 c.31060A>G p.K10354E missense 0.00004505●●●●●●
3993. 179560685 c.31114G>C p.E10372Q missense 0.00011521●●●●●●
3994. 179560679 c.31120G>T p.E10374X nonsense 0.00006096●●●●●●
3995. 179560649 c.31150T>G p.W10384G missense 0.00007821●●●●●●
3996. 179560643 c.31156G>A p.E10386K missense 0.00016113●●●●●●
3997. 179560625 c.31174G>A p.E10392K missense 0.00008308●●●●●●
3998. 179560131 c.31214A>G p.H10405R missense 0.00002488●●●●●●
3999. 179560120 c.31225G>T p.V10409F missense 0.00001658●●●●●●
4000. 179560116 c.31229C>T p.P10410L missense 0.00005804●●●●●●
4001. 179560114 c.31231G>C p.A10411P missense 0.00004145●●●●●●
4002. 179560102 c.31243G>A p.E10415K missense 0.00003316●●●●●●
4003. 179560089 c.31256C>T p.P10419L missense 0.00000829●●●●●●
4004. 179560067 c.31270+8delA splice site 0.00000830●●●●●●
4005. 179559591 c.31313G>A p.R10438Q missense 0.00007874●●●●●●
4006. 179559573 c.31331A>T p.K10444I missense 0.00003977●●●●●●
4007. 179559571 c.31333G>T p.V10445F missense 0.00007997●●●●●●
4008. 179559553 c.31348+3A>T splice site 0.00004069●●●●●●
4009. 179559386 c.31366A>G p.K10456E missense 0.00004055●●●●●●
4010. 179559368 c.31384C>A p.P10462T missense 0.00004016●●●●●●
4011. 179559364 c.31388C>T p.S10463F missense 0.00004019●●●●●●
4012. 179559362 c.31390C>T p.R10464W missense 0.00016130●●●●●●
4013. 179559361 c.31391G>A p.R10464Q missense 0.00004037●●●●●●
4014. 179559353 c.31399G>A p.V10467I missense 0.00231783●●●●●●
4015. 179558743 c.31427-8_31427-7delCT splice site 0.00002280●●●●●●
4016. 179558742 c.31427-7T>C splice site 0.00001145●●●●●●
4017. 179558729 c.31433C>G p.A10478G missense 0.00003167●●●●●●
4018. 179558727 c.31435G>A p.V10479M missense 0.00001043●●●●●●
4019. 179558721 c.31441A>G p.T10481A missense 0.00014184●●●●●●
4020. 179558720 c.31442C>T p.T10481I missense 0.00001004●●●●●●
4021. 179558714 c.31448_31450delAGA p.Lys10483del inframe 0.00000964●●●●●●
4022. 179558709 c.31453G>T p.V10485F missense 0.00001912●●●●●●
4023. 179558706 c.31456A>T p.I10486F missense 0.00008509●●●●●●
4024. 179558690 c.31472T>C p.M10491T missense 0.00004539●●●●●●
4025. 179558682 c.31480G>T p.A10494S missense 0.00000898●●●●●●
4026. 179558657 c.31505C>T p.S10502L missense 0.00013401●●●●●●
4027. 179558655 c.31507G>A p.V10503I missense 0.00000896●●●●●●
4028. 179558647 c.31513+2T>A essential splice site 0.00000907●●●●●●
4029. 179558644 c.31513+5A>G splice site 0.00000912●●●●●●
4030. 179558420 c.31514-4delT splice site 0.00009870●●●●●●
4031. 179558413 c.31517C>G p.P10506R missense 0.00003170●●●●●●
4032. 179558411 c.31519G>A p.E10507K missense 0.00002094●●●●●●
4033. 179558410 c.31520A>C p.E10507A missense 0.00005194●●●●●●
4034. 179558374 c.31556A>G p.H10519R missense 0.00000916●●●●●●
4035. 179558372 c.31558G>A p.V10520I missense 0.00000914●●●●●●
4036. 179558366 c.31564A>G p.I10522V missense 0.35363728●●●●●●
4037. 179558358 c.31572A>C p.K10524N missense 0.00000945●●●●●●
4038. 179558355 c.31575G>T p.R10525S missense 0.00001905●●●●●●
4039. 179558336 c.31594G>A p.V10532I missense 0.00008741●●●●●●
4040. 179558336 c.31594G>T p.V10532F missense 0.00001093●●●●●●
4041. 179558332 c.31594+4T>C splice site 0.00002317●●●●●●
4042. 179558328 c.31594+8T>C splice site 0.00001230●●●●●●
4043. 179557265 c.31637C>G p.P10546R missense 0.00002841●●●●●●
4044. 179557259 c.31643C>T p.P10548L missense 0.00002847●●●●●●
4045. 179557257 c.31645A>G p.I10549V missense 0.00025675●●●●●●
4046. 179557257 c.31645A>C p.I10549L missense 0.00002853●●●●●●
4047. 179557251 c.31651A>G p.K10551E missense 0.00002932●●●●●●
4048. 179557230 c.31672C>A p.P10558T missense 0.00003617●●●●●●
4049. 179556823 c.31682C>A p.P10561H missense 0.00000840●●●●●●
4050. 179556815 c.31690C>T p.P10564S missense 0.00000836●●●●●●
4051. 179556805 c.31700C>A p.P10567H missense 0.00002500●●●●●●
4052. 179556803 c.31702G>A p.V10568M missense 0.00004998●●●●●●
4053. 179556786 c.31719G>C p.K10573N missense 0.00000832●●●●●●
4054. 179556784 c.31721C>T p.P10574L missense 0.00001663●●●●●●
4055. 179556782 c.31723G>A p.V10575I missense 0.00005821●●●●●●
4056. 179556770 c.31735A>C p.K10579Q missense 0.00007486●●●●●●
4057. 179556765 c.31740G>T p.K10580N missense 0.00001664●●●●●●
4058. 179556761 c.31744C>T p.P10582S missense 0.00017482●●●●●●
4059. 179556761 c.31744C>A p.P10582T missense 0.00000832●●●●●●
4060. 179556749 c.31756C>G p.P10586A missense 0.00002504●●●●●●
4061. 179556748 c.31757C>A p.P10586Q missense 0.00041745●●●●●●
4062. 179556748 c.31757C>T p.P10586L missense 0.00001670●●●●●●
4063. 179556743 c.31762G>A p.V10588I missense 0.00002509●●●●●●
4064. 179556739 c.31762+4C>T splice site 0.00009218●●●●●●
4065. 179556738 c.31762+5G>A splice site 0.00035227●●●●●●
4066. 179556738 c.31762+5_31762+7delGCC splice site 0.00014268●●●●●●
4067. 179554631 c.31763-8A>C splice site 0.00000828●●●●●●
4068. 179554624 c.31763-1G>A essential splice site 0.00027334●●●●●●
4069. 179554618 c.31768G>A p.E10590K missense 0.00000828●●●●●●
4070. 179554599 c.31787T>C p.V10596A missense 0.00003313●●●●●●
4071. 179554597 c.31789C>T p.P10597S missense 0.00000828●●●●●●
4072. 179554579 c.31807G>A p.V10603I missense 0.00024021●●●●●●
4073. 179554576 c.31810C>G p.P10604A missense 0.00000828●●●●●●
4074. 179554569 c.31817C>G p.A10606G missense 0.00000828●●●●●●
4075. 179554565 c.31821G>T p.K10607N missense 0.00002485●●●●●●
4076. 179554555 c.31831G>A p.A10611T missense 0.00000829●●●●●●
4077. 179554549 c.31837C>G p.P10613A missense 0.00033979●●●●●●
4078. 179554548 c.31838C>A p.P10613Q missense 0.00000829●●●●●●
4079. 179554545 c.31841C>A p.A10614D missense 0.00004974●●●●●●
4080. 179554545 c.31841C>T p.A10614V missense 0.00000829●●●●●●
4081. 179554542 c.31844A>T p.K10615I missense 0.00001659●●●●●●
4082. 179554535 c.31846+5A>G splice site 0.00000830●●●●●●
4083. 179554324 c.31847-2A>G essential splice site 0.00001100●●●●●●
4084. 179554305 c.31864G>A p.G10622R missense 0.39948200●●●●●●
4085. 179554294 c.31875delA p.Glu10626LysfsTer4 frameshift 0.00001013●●●●●●
4086. 179554285 c.31884A>T p.K10628N missense 0.00002014●●●●●●
4087. 179554284 c.31885A>G p.I10629V missense 0.00003032●●●●●●
4088. 179554280 c.31889C>A p.T10630N missense 0.00004033●●●●●●
4089. 179554277 c.31892T>C p.I10631T missense 0.00001008●●●●●●
4090. 179554263 c.31906G>A p.E10636K missense 0.00001020●●●●●●
4091. 179554257 c.31912T>A p.S10638T missense 0.00001025●●●●●●
4092. 179554256 c.31913C>A p.S10638Y missense 0.00001022●●●●●●
4093. 179554247 c.31922C>T p.P10641L missense 0.00003094●●●●●●
4094. 179554107 c.31928-7C>T splice site 0.00000847●●●●●●
4095. 179554085 c.31943A>G p.K10648R missense 0.00000836●●●●●●
4096. 179554076 c.31952T>C p.V10651A missense 0.00001669●●●●●●
4097. 179554062 c.31966A>T p.K10656X nonsense 0.00000834●●●●●●
4098. 179554052 c.31976C>T p.P10659L missense 0.00000834●●●●●●
4099. 179554050 c.31978C>T p.R10660W missense 0.00000834●●●●●●
4100. 179554049 c.31979G>A p.R10660Q missense 0.00002501●●●●●●
4101. 179554049 c.31979G>T p.R10660L missense 0.00000834●●●●●●
4102. 179554047 c.31981A>G p.K10661E missense 0.00000834●●●●●●
4103. 179554031 c.31997C>T p.P10666L missense 0.00000834●●●●●●
4104. 179554025 c.32003C>T p.P10668L missense 0.00000835●●●●●●
4105. 179554018 c.32010A>G splice site 0.00000835●●●●●●
4106. 179554017 c.32011G>A p.V10671M missense 0.00000835●●●●●●
4107. 179554007 c.32011+10C>G splice site 0.00138015●●●●●●
4108. 179553857 c.32018C>G p.A10673G missense 0.00000830●●●●●●
4109. 179553855 c.32020C>G p.L10674V missense 0.00009953●●●●●●
4110. 179553854 c.32021T>C p.L10674P missense 0.00003318●●●●●●
4111. 179553849 c.32026A>G p.K10676E missense 0.00012437●●●●●●
4112. 179553844 c.32031A>T p.K10677N missense 0.00001658●●●●●●
4113. 179553842 c.32033C>T p.P10678L missense 0.00000829●●●●●●
4114. 179553840 c.32035G>A p.V10679I missense 0.00004144●●●●●●
4115. 179553825 c.32050G>A p.V10684I missense 0.00000829●●●●●●
4116. 179553813 c.32062G>C p.V10688L missense 0.00000828●●●●●●
4117. 179553807 c.32068G>C p.V10690L missense 0.00001657●●●●●●
4118. 179553804 c.32071G>A p.A10691T missense 0.00015741●●●●●●
4119. 179553795 c.32080G>A p.A10694T missense 0.00002487●●●●●●
4120. 179553795 c.32080G>C p.A10694P missense 0.00000829●●●●●●
4121. 179553792 c.32083C>T p.P10695S missense 0.00005803●●●●●●
4122. 179553791 c.32084C>T p.P10695L missense 0.00000829●●●●●●
4123. 179553786 c.32089C>T p.P10697S missense 0.00000829●●●●●●
4124. 179553785 c.32090C>T p.P10697L missense 0.00003318●●●●●●
4125. 179553782 c.32093G>A p.R10698Q missense 0.00025735●●●●●●
4126. 179553779 c.32095+1G>A essential splice site 0.00023255●●●●●●
4127. 179553510 c.32096-5T>G splice site 0.00000847●●●●●●
4128. 179553504 c.32097T>C splice site 0.00000841●●●●●●
4129. 179553496 c.32105C>G p.S10702C missense 0.00000834●●●●●●
4130. 179553487 c.32114C>T p.T10705I missense 0.00007480●●●●●●
4131. 179553481 c.32120T>C p.V10707A missense 0.00000830●●●●●●
4132. 179553478 c.32123A>G p.E10708G missense 0.00003319●●●●●●
4133. 179553474 c.32127_32131delAAAGA p.Lys10710IlefsTer4 frameshift 0.00000829●●●●●●
4134. 179553468 c.32133dupA p.Phe10712IlefsTer4 frameshift 0.00000829●●●●●●
4135. 179553440 c.32161G>A p.A10721T missense 0.00003314●●●●●●
4136. 179553437 c.32164G>A p.V10722I missense 0.00000828●●●●●●
4137. 179553427 c.32174G>A p.R10725K missense 0.00000829●●●●●●
4138. 179553422 c.32179G>A p.E10727K missense 0.00001657●●●●●●
4139. 179553415 c.32186C>T p.T10729M missense 0.00033144●●●●●●
4140. 179553413 c.32188C>T p.R10730W missense 0.00001657●●●●●●
4141. 179553412 c.32189G>A p.R10730Q missense 0.00003315●●●●●●
4142. 179553410 c.32191C>A p.H10731N missense 0.00000829●●●●●●
4143. 179553407 c.32194G>A p.E10732K missense 0.00004974●●●●●●
4144. 179553401 c.32197+3A>G splice site 0.00000829●●●●●●
4145. 179553396 c.32197+8delA splice site 0.00000830●●●●●●
4146. 179552960 c.32198-9C>A splice site 0.00001658●●●●●●
4147. 179552959 c.32198-8T>A splice site 0.00000829●●●●●●
4148. 179552950 c.32199A>G splice site 0.00000829●●●●●●
4149. 179552934 c.32215T>G p.W10739G missense 0.00000828●●●●●●
4150. 179552931 c.32218A>T p.S10740C missense 0.00000828●●●●●●
4151. 179552925 c.32224T>G p.S10742A missense 0.00000828●●●●●●
4152. 179552924 c.32225C>T p.S10742L missense 0.00002485●●●●●●
4153. 179552906 c.32243T>C p.V10748A missense 0.00000828●●●●●●
4154. 179552895 c.32254G>A p.V10752I missense 0.00348677●●●●●●
4155. 179552886 c.32263_32264dupGA p.Glu10756LysfsTer17 frameshift 0.00000828●●●●●●
4156. 179552880 c.32269_32271delGAA p.Glu10757del inframe 0.00000828●●●●●●
4157. 179552869 c.32280G>C p.E10760D missense 0.00000828●●●●●●
4158. 179552866 c.32283_32285delGGA p.Glu10763del inframe 0.00000828●●●●●●
4159. 179552846 c.32303A>G p.E10768G missense 0.00000829●●●●●●
4160. 179552832 c.32311+6C>A splice site 0.00000832●●●●●●
4161. 179550322 c.32315T>G p.M10772R missense 0.00000899●●●●●●
4162. 179550311 c.32326G>A p.E10776K missense 0.00001768●●●●●●
4163. 179550302 c.32335G>T p.V10779F missense 0.00000876●●●●●●
4164. 179550298 c.32339T>C p.V10780A missense 0.00000874●●●●●●
4165. 179550287 c.32350C>G p.L10784V missense 0.00199898●●●●●●
4166. 179550266 c.32371G>A p.V10791M missense 0.00000918●●●●●●
4167. 179550255 c.32382G>C p.E10794D missense 0.00000972●●●●●●
4168. 179550246 c.32391A>G splice site 0.00001038●●●●●●
4169. 179550245 c.32392G>A p.V10798M missense 0.00001047●●●●●●
4170. 179550239 c.32392+6C>T splice site 0.00004474●●●●●●
4171. 179549988 c.32462C>T p.P10821L missense 0.00096025●●●●●●
4172. 179549980 c.32470G>T p.V10824F missense 0.00004835●●●●●●
4173. 179549722 c.32471-6C>T splice site 0.00003602●●●●●●
4174. 179549717 c.32471-1G>A essential splice site 0.00006805●●●●●●
4175. 179549707 c.32480C>T p.A10827V missense 0.00242415●●●●●●
4176. 179549704 c.32483C>G p.P10828R missense 0.00003067●●●●●●
4177. 179549683 c.32504A>G p.K10835R missense 0.00001301●●●●●●
4178. 179549672 c.32515G>T p.A10839S missense 0.00001256●●●●●●
4179. 179549656 c.32531A>C p.K10844T missense 0.00002484●●●●●●
4180. 179549645 c.32542C>T p.P10848S missense 0.00002569●●●●●●
4181. 179549628 c.32554+5_32554+6delAT splice site 0.00016837●●●●●●
4182. 179549487 c.32555-11T>A splice site 0.00001679●●●●●●
4183. 179549484 c.32555-8C>A splice site 0.00000837●●●●●●
4184. 179549482 c.32555-6T>C splice site 0.00034276●●●●●●
4185. 179549478 c.32555-2A>C essential splice site 0.00001670●●●●●●
4186. 179549476 c.32555T>C p.V10852A missense 0.00000835●●●●●●
4187. 179549474 c.32557C>T p.P10853S missense 0.00039223●●●●●●
4188. 179549473 c.32558delC p.Pro10853GlnfsTer28 frameshift 0.00000834●●●●●●
4189. 179549464 c.32567C>G p.P10856R missense 0.00000833●●●●●●
4190. 179549462 c.32569A>G p.K10857E missense 0.00003329●●●●●●
4191. 179549460 c.32571G>T p.K10857N missense 0.00001664●●●●●●
4192. 179549456 c.32575C>T p.P10859S missense 0.00003326●●●●●●
4193. 179549450 c.32581C>T p.P10861S missense 0.00001662●●●●●●
4194. 179549442 c.32589A>C p.K10863N missense 0.00000831●●●●●●
4195. 179549440 c.32591A>G p.K10864R missense 0.00000831●●●●●●
4196. 179549438 c.32593G>C p.V10865L missense 0.00039024●●●●●●
4197. 179549438 c.32593G>A p.V10865I missense 0.00000830●●●●●●
4198. 179549429 c.32602A>G p.K10868E missense 0.00001661●●●●●●
4199. 179549417 c.32614A>G p.M10872V missense 0.00000832●●●●●●
4200. 179549417 c.32614A>C p.M10872L missense 0.00000832●●●●●●
4201. 179549412 c.32619A>T p.E10873D missense 0.00000832●●●●●●
4202. 179549407 c.32624C>T p.P10875L missense 0.00505816●●●●●●
4203. 179549148 c.32639-8C>A splice site 0.00004401●●●●●●
4204. 179549138 c.32641A>G p.T10881A missense 0.00000863●●●●●●
4205. 179549131 c.32648G>A p.R10883K missense 0.01241056●●●●●●
4206. 179549126 c.32653A>G p.M10885V missense 0.00024620●●●●●●
4207. 179549126 c.32653A>T p.M10885L missense 0.00008490●●●●●●
4208. 179549119 c.32660T>C p.I10887T missense 0.00001690●●●●●●
4209. 179549108 c.32671G>A p.E10891K missense 0.00000843●●●●●●
4210. 179549095 c.32684T>C p.V10895A missense 0.00000842●●●●●●
4211. 179549078 c.32701G>C p.E10901Q missense 0.00000846●●●●●●
4212. 179549074 c.32705C>T p.A10902V missense 0.00002545●●●●●●
4213. 179549049 c.32722+8C>T splice site 0.00005222●●●●●●
4214. 179549048 c.32722+9G>A splice site 0.00858485●●●●●●
4215. 179548819 c.32723-10C>G splice site 0.00000835●●●●●●
4216. 179548814 c.32723-5T>C splice site 0.00000833●●●●●●
4217. 179548810 c.32723-1G>C essential splice site 0.00000833●●●●●●
4218. 179548809 c.32723T>A p.V10908E missense 0.00008324●●●●●●
4219. 179548801 c.32731G>A p.E10911K missense 0.00012463●●●●●●
4220. 179548797 c.32735C>T p.P10912L missense 0.00000831●●●●●●
4221. 179548789 c.32743G>C p.A10915P missense 0.00091304●●●●●●
4222. 179548786 c.32746G>A p.V10916I missense 0.00000830●●●●●●
4223. 179548783 c.32749C>A p.P10917T missense 0.00001660●●●●●●
4224. 179548782 c.32750C>T p.P10917L missense 0.00078825●●●●●●
4225. 179548782 c.32750C>A p.P10917Q missense 0.00000830●●●●●●
4226. 179548771 c.32761G>C p.V10921L missense 0.00000830●●●●●●
4227. 179548765 c.32767A>C p.K10923Q missense 0.00007469●●●●●●
4228. 179548755 c.32777C>T p.P10926L missense 0.00000831●●●●●●
4229. 179548752 c.32780A>G p.K10927R missense 0.00004155●●●●●●
4230. 179548740 c.32792A>C p.E10931A missense 0.00004168●●●●●●
4231. 179548737 c.32795C>T p.P10932L missense 0.00000835●●●●●●
4232. 179548735 c.32797C>A p.P10933T missense 0.00003340●●●●●●
4233. 179548734 c.32798C>A p.P10933Q missense 0.00002506●●●●●●
4234. 179548729 c.32803A>G p.K10935E missense 0.00000838●●●●●●
4235. 179548727 c.32805A>G splice site 0.00000838●●●●●●
4236. 179548721 c.32806+5A>G splice site 0.00010939●●●●●●
4237. 179548028 c.32807-10T>A splice site 0.00082318●●●●●●
4238. 179547988 c.32837A>T p.E10946V missense 0.00009402●●●●●●
4239. 179547937 c.32887+1G>T essential splice site 0.00009465●●●●●●
4240. 179547637 c.32888-7G>A splice site 0.00001378●●●●●●
4241. 179547633 c.32888-3C>A splice site 0.00001300●●●●●●
4242. 179547627 c.32891T>A p.V10964E missense 0.00001244●●●●●●
4243. 179547612 c.32906A>G p.E10969G missense 0.00001077●●●●●●
4244. 179547600 c.32918C>T p.A10973V missense 0.00002869●●●●●●
4245. 179547594 c.32924C>T p.T10975I missense 0.00000912●●●●●●
4246. 179547594 c.32924C>A p.T10975N missense 0.00001825●●●●●●
4247. 179547582 c.32936A>C p.E10979A missense 0.00000863●●●●●●
4248. 179547582 c.32936_32938delAAG p.Glu10979del inframe 0.00000857●●●●●●
4249. 179547579 c.32939C>G p.A10980G missense 0.00000857●●●●●●
4250. 179547565 c.32953C>T p.R10985W missense 0.00025995●●●●●●
4251. 179547564 c.32954G>C p.R10985P missense 0.00052812●●●●●●
4252. 179547564 c.32954G>A p.R10985Q missense 0.00003353●●●●●●
4253. 179547547 c.32971G>A p.E10991K missense 0.00000831●●●●●●
4254. 179547544 c.32974T>C p.Y10992H missense 0.00000831●●●●●●
4255. 179547536 c.32982A>C p.E10994D missense 0.00000830●●●●●●
4256. 179547515 c.33003G>C p.E11001D missense 0.00000829●●●●●●
4257. 179547505 c.33013C>T p.P11005S missense 0.00000828●●●●●●
4258. 179547505 c.33013C>A p.P11005T missense 0.00000828●●●●●●
4259. 179547472 c.33046G>A p.E11016K missense 0.00001657●●●●●●
4260. 179547469 c.33049G>A p.E11017K missense 0.00001657●●●●●●
4261. 179547466 c.33052C>T p.R11018W missense 0.00003314●●●●●●
4262. 179547465 c.33053G>A p.R11018Q missense 0.00083666●●●●●●
4263. 179547465 c.33053G>C p.R11018P missense 0.00000828●●●●●●
4264. 179547459 c.33059A>G p.Y11020C missense 0.00015740●●●●●●
4265. 179547454 c.33064C>G p.R11022G missense 0.00000829●●●●●●
4266. 179547442 c.33076C>A p.H11026N missense 0.00004974●●●●●●
4267. 179547430 c.33088A>T p.I11030F missense 0.00000830●●●●●●
4268. 179546453 c.33107C>T p.P11036L missense 0.00000830●●●●●●
4269. 179546448 c.33112C>T p.P11038S missense 0.00004975●●●●●●
4270. 179546433 c.33127C>T p.P11043S missense 0.00000829●●●●●●
4271. 179546424 c.33136C>T p.P11046S missense 0.00000829●●●●●●
4272. 179546411 c.33149A>C p.K11050T missense 0.00000829●●●●●●
4273. 179546410 c.33150A>C p.K11050N missense 0.00001658●●●●●●
4274. 179546397 c.33163_33164insAAAAC p.Pro11055GlnfsTer7 frameshift 0.00000830●●●●●●
4275. 179546396 c.33164C>T p.P11055L missense 0.00004148●●●●●●
4276. 179546394 c.33166G>C p.A11056P missense 0.00000830●●●●●●
4277. 179546384 c.33172+4G>A splice site 0.00007477●●●●●●
4278. 179546185 c.33173-8T>C splice site 0.00000947●●●●●●
4279. 179546182 c.33173-5T>C splice site 0.00001872●●●●●●
4280. 179546166 c.33184G>T p.A11062S missense 0.00000890●●●●●●
4281. 179546137 c.33213delC p.Ile11072PhefsTer36 frameshift 0.00000857●●●●●●
4282. 179546109 c.33241C>T p.P11081S missense 0.00000867●●●●●●
4283. 179545906 c.33248-8C>G splice site 0.00000932●●●●●●
4284. 179545902 c.33248-4A>G splice site 0.00000925●●●●●●
4285. 179545897 c.33249G>T splice site 0.00007245●●●●●●
4286. 179545884 c.33262A>G p.K11088E missense 0.00000873●●●●●●
4287. 179545883 c.33263A>T p.K11088M missense 0.00004359●●●●●●
4288. 179545878 c.33268G>T p.V11090F missense 0.00000865●●●●●●
4289. 179545860 c.33286C>T p.R11096C missense 0.00000850●●●●●●
4290. 179545859 c.33287G>A p.R11096H missense 0.23472974●●●●●●
4291. 179545842 c.33304C>T p.R11102C missense 0.00001685●●●●●●
4292. 179545841 c.33305G>A p.R11102H missense 0.00006741●●●●●●
4293. 179545833 c.33313G>C p.E11105Q missense 0.00001687●●●●●●
4294. 179545832 c.33314A>G p.E11105G missense 0.00000844●●●●●●
4295. 179545818 c.33328C>T p.P11110S missense 0.00003393●●●●●●
4296. 179545818 c.33328C>A p.P11110T missense 0.00000848●●●●●●
4297. 179545815 c.33331G>A p.A11111T missense 0.00011910●●●●●●
4298. 179545801 c.33340+5A>C splice site 0.00001727●●●●●●
4299. 179545796 c.33340+10T>C splice site 0.00243478●●●●●●
4300. 179545053 c.33346A>G p.M11116V missense 0.00000828●●●●●●
4301. 179545048 c.33351G>T p.K11117N missense 0.00000829●●●●●●
4302. 179545032 c.33367G>A p.A11123T missense 0.00009941●●●●●●
4303. 179545023 c.33376A>G p.K11126E missense 0.00000828●●●●●●
4304. 179545022 c.33377A>C p.K11126T missense 0.00000828●●●●●●
4305. 179545022 c.33377A>G p.K11126R missense 0.00000828●●●●●●
4306. 179545020 c.33379G>A p.V11127I missense 0.00000828●●●●●●
4307. 179545017 c.33382C>G p.P11128A missense 0.00000828●●●●●●
4308. 179545004 c.33395A>C p.K11132T missense 0.00000828●●●●●●
4309. 179544998 c.33401T>C p.V11134A missense 0.00000828●●●●●●
4310. 179544995 c.33404C>A p.A11135E missense 0.00033963●●●●●●
4311. 179544987 c.33412G>C p.V11138L missense 0.00000828●●●●●●
4312. 179544983 c.33416G>C p.R11139T missense 0.00149130●●●●●●
4313. 179544980 c.33418+1G>A essential splice site 0.00002485●●●●●●
4314. 179544979 c.33418+2T>A essential splice site 0.00000829●●●●●●
4315. 179544977 c.33418+4C>A splice site 0.00002486●●●●●●
4316. 179544977 c.33418+4C>G splice site 0.00000829●●●●●●
4317. 179544975 c.33418+6T>G splice site 0.00002486●●●●●●
4318. 179544973 c.33418+8A>G splice site 0.00001657●●●●●●
4319. 179544790 c.33419-8C>T splice site 0.00000835●●●●●●
4320. 179544790 c.33419-8C>A splice site 0.00000835●●●●●●
4321. 179544787 c.33419-5T>A splice site 0.00000835●●●●●●
4322. 179544784 c.33419-2A>C essential splice site 0.00001669●●●●●●
4323. 179544777 c.33424G>A p.E11142K missense 0.00005831●●●●●●
4324. 179544776 c.33425A>G p.E11142G missense 0.00001666●●●●●●
4325. 179544774 c.33427G>A p.V11143M missense 0.00000833●●●●●●
4326. 179544756 c.33445C>T p.P11149S missense 0.00001663●●●●●●
4327. 179544746 c.33455T>C p.V11152A missense 0.00001662●●●●●●
4328. 179544707 c.33494A>C p.Y11165S missense 0.00003323●●●●●●
4329. 179544701 c.33500T>C p.V11167A missense 0.00000831●●●●●●
4330. 179544693 c.33508G>A p.E11170K missense 0.00000831●●●●●●
4331. 179544690 c.33511G>A p.E11171K missense 0.00004153●●●●●●
4332. 179544688 c.33513_33515dupAGA p.Glu11171dup inframe 0.01100754●●●●●●
4333. 179544688 c.33513_33515delAGA p.Glu11172del inframe 0.00014123●●●●●●
4334. 179544677 c.33524A>T p.H11175L missense 0.00000830●●●●●●
4335. 179544672 c.33529G>A p.E11177K missense 0.00000830●●●●●●
4336. 179544670 c.33531_33533delAGA p.Glu11179del inframe 0.00000830●●●●●●
4337. 179544666 c.33535delG p.E11179Sfs*3 frameshift 0.00000830●●●●●●
4338. 179544665 c.33536A>G p.E11179G missense 0.00000830●●●●●●
4339. 179544656 c.33545C>G p.T11182S missense 0.00000830●●●●●●
4340. 179544632 c.33569T>C p.I11190T missense 0.00000831●●●●●●
4341. 179544621 c.33580G>A p.V11194M missense 0.00002493●●●●●●
4342. 179544616 c.33580+5A>C splice site 0.00001663●●●●●●
4343. 179544407 c.33583C>G p.P11195A missense 0.00001998●●●●●●
4344. 179544389 c.33601C>A p.P11201T missense 0.00000928●●●●●●
4345. 179544388 c.33602C>T p.P11201L missense 0.00001856●●●●●●
4346. 179544383 c.33607C>A p.P11203T missense 0.00000914●●●●●●
4347. 179544347 c.33643A>G p.K11215E missense 0.00000884●●●●●●
4348. 179544340 c.33650C>T p.A11217V missense 0.00006209●●●●●●
4349. 179544337 c.33653C>T p.P11218L missense 0.00000890●●●●●●
4350. 179544334 c.33656C>T p.P11219L missense 0.00003575●●●●●●
4351. 179544142 c.33666G>T splice site 0.00001667●●●●●●
4352. 179544120 c.33688G>A p.E11230K missense 0.00006652●●●●●●
4353. 179544116 c.33692A>G p.E11231G missense 0.00000831●●●●●●
4354. 179544114 c.33694A>G p.K11232E missense 0.00000831●●●●●●
4355. 179544098 c.33710T>C p.I11237T missense 0.00001663●●●●●●
4356. 179544092 c.33716A>G p.K11239R missense 0.00000831●●●●●●
4357. 179544089 c.33719A>G p.K11240R missense 0.00002494●●●●●●
4358. 179544077 c.33731C>T p.P11244L missense 0.00009153●●●●●●
4359. 179544065 c.33742+1G>T essential splice site 0.00002499●●●●●●
4360. 179544064 c.33742+2T>C essential splice site 0.00000833●●●●●●
4361. 179544058 c.33742+8C>T splice site 0.00070832●●●●●●
4362. 179544055 c.33742+11A>G splice site 0.00192564●●●●●●
4363. 179543549 c.33751G>A p.V11251M missense 0.00001661●●●●●●
4364. 179543541 c.33759G>C p.K11253N missense 0.00000830●●●●●●
4365. 179543528 c.33772G>A p.E11258K missense 0.00001660●●●●●●
4366. 179543515 c.33785C>A p.P11262Q missense 0.00000830●●●●●●
4367. 179543512 c.33788T>C p.V11263A missense 0.00000830●●●●●●
4368. 179543507 c.33793G>T p.V11265F missense 0.00000830●●●●●●
4369. 179543504 c.33796C>T p.P11266S missense 0.00021590●●●●●●
4370. 179543483 c.33817C>T p.P11273S missense 0.00000831●●●●●●
4371. 179543474 c.33826G>C p.V11276L missense 0.00000832●●●●●●
4372. 179543470 c.33826+4C>T splice site 0.00000832●●●●●●
4373. 179543469 c.33826+5A>C splice site 0.00001665●●●●●●
4374. 179543469 c.33826+5A>G splice site 0.00001665●●●●●●
4375. 179543467 c.33826+7G>A splice site 0.00000833●●●●●●
4376. 179543232 c.33827-8C>T splice site 0.00025761●●●●●●
4377. 179543216 c.33835G>T p.V11279L missense 0.00001862●●●●●●
4378. 179543215 c.33836T>C p.V11279A missense 0.00001874●●●●●●
4379. 179543213 c.33838C>T p.P11280S missense 0.00016678●●●●●●
4380. 179543204 c.33847C>G p.P11283A missense 0.00001819●●●●●●
4381. 179543201 c.33850G>T p.V11284L missense 0.00003709●●●●●●
4382. 179543195 c.33856G>A p.E11286K missense 0.00057492●●●●●●
4383. 179543189 c.33862_33864delAAG p.Lys11288del inframe 0.00005517●●●●●●
4384. 179543170 c.33881C>G p.P11294R missense 0.00013207●●●●●●
4385. 179543161 c.33890T>A p.V11297E missense 0.00002004●●●●●●
4386. 179542943 c.33911-8C>A splice site 0.00006677●●●●●●
4387. 179542942 c.33911-7T>C splice site 0.00000834●●●●●●
4388. 179542941 c.33911-6_33911-5insG splice site 0.00005001●●●●●●
4389. 179542930 c.33916G>C p.E11306Q missense 0.00000831●●●●●●
4390. 179542924 c.33922C>A p.P11308T missense 0.00000830●●●●●●
4391. 179542924 c.33922C>T p.P11308S missense 0.00001660●●●●●●
4392. 179542915 c.33931C>T p.L11311F missense 0.00000829●●●●●●
4393. 179542911 c.33935T>C p.I11312T missense 0.00002487●●●●●●
4394. 179542898 c.33948G>T p.K11316N missense 0.00000829●●●●●●
4395. 179542887 c.33959C>T p.P11320L missense 0.00000829●●●●●●
4396. 179542881 c.33965C>T p.P11322L missense 0.00001658●●●●●●
4397. 179542881 c.33965C>G p.P11322R missense 0.00001658●●●●●●
4398. 179542875 c.33971A>G p.K11324R missense 0.00000829●●●●●●
4399. 179542649 c.33995-5T>G splice site 0.00000850●●●●●●
4400. 179542649 c.33995-5T>C splice site 0.00002551●●●●●●
4401. 179542635 c.34004A>C p.K11335T missense 0.00000843●●●●●●
4402. 179542633 c.34006C>T p.R11336C missense 0.00001685●●●●●●
4403. 179542632 c.34007G>A p.R11336H missense 0.00000842●●●●●●
4404. 179542627 c.34012C>T p.P11338S missense 0.00000840●●●●●●
4405. 179542617 c.34022T>A p.V11341D missense 0.00000836●●●●●●
4406. 179542612 c.34027G>A p.V11343I missense 0.00002504●●●●●●
4407. 179542608 c.34031C>T p.A11344V missense 0.00000834●●●●●●
4408. 179542596 c.34043A>G p.E11348G missense 0.00000832●●●●●●
4409. 179542588 c.34051G>A p.V11351I missense 0.00000831●●●●●●
4410. 179542582 c.34057T>C p.F11353L missense 0.00000831●●●●●●
4411. 179542581 c.34058T>C p.F11353S missense 0.00001661●●●●●●
4412. 179542575 c.34064A>G p.E11355G missense 0.00009131●●●●●●
4413. 179542563 c.34076C>A p.P11359H missense 0.00000830●●●●●●
4414. 179542551 c.34088T>A p.V11363D missense 0.00000829●●●●●●
4415. 179542548 c.34091T>C p.L11364P missense 0.00000829●●●●●●
4416. 179542527 c.34112T>A p.L11371Q missense 0.00000829●●●●●●
4417. 179542515 c.34124A>C p.E11375A missense 0.00000829●●●●●●
4418. 179542510 c.34129G>T p.V11377F missense 0.00001658●●●●●●
4419. 179542509 c.34130T>A p.V11377D missense 0.00000829●●●●●●
4420. 179542506 c.34133T>C p.L11378P missense 0.00000829●●●●●●
4421. 179542496 c.34143_34145delAGA p.Glu11383del inframe 0.00000829●●●●●●
4422. 179542495 c.34144G>A p.E11382K missense 0.00000829●●●●●●
4423. 179542489 c.34150G>C p.V11384L missense 0.00001660●●●●●●
4424. 179542488 c.34151T>C p.V11384A missense 0.00000830●●●●●●
4425. 179542447 c.34192G>T p.V11398F missense 0.00004147●●●●●●
4426. 179542441 c.34198C>A p.P11400T missense 0.00000830●●●●●●
4427. 179542438 c.34201G>A p.E11401K missense 0.00009961●●●●●●
4428. 179542428 c.34211A>G p.Y11404C missense 0.00003321●●●●●●
4429. 179542426 c.34213G>A p.V11405I missense 0.00000831●●●●●●
4430. 179542425 c.34214T>C p.V11405A missense 0.00000830●●●●●●
4431. 179542423 c.34216C>A p.P11406T missense 0.00046517●●●●●●
4432. 179542420 c.34219G>A p.E11407K missense 0.00001663●●●●●●
4433. 179542414 c.34225G>A p.E11409K missense 0.00000832●●●●●●
4434. 179542402 c.34237C>T p.P11413S missense 0.00000834●●●●●●
4435. 179542401 c.34238C>G p.P11413R missense 0.00001675●●●●●●
4436. 179542399 c.34240G>A p.E11414K missense 0.00001676●●●●●●
4437. 179542392 c.34247_34249delAAG p.Glu11416del inframe 0.00282770●●●●●●
4438. 179542366 c.34273G>A p.V11425M missense 0.00001718●●●●●●
4439. 179542353 c.34286C>T p.A11429V missense 0.00000899●●●●●●
4440. 179542342 c.34291+6G>A splice site 0.00001899●●●●●●
4441. 179541999 c.34307A>G p.K11436R missense 0.00254130●●●●●●
4442. 179540727 c.34379-5T>C splice site 0.00003416●●●●●●
4443. 179540686 c.34415T>C p.V11472A missense 0.00001339●●●●●●
4444. 179540680 c.34421T>G p.I11474S missense 0.00001306●●●●●●
4445. 179540664 c.34437G>C p.E11479D missense 0.00001292●●●●●●
4446. 179540663 c.34438G>A p.A11480T missense 0.00001294●●●●●●
4447. 179540657 c.34444C>T p.P11482S missense 0.00002613●●●●●●
4448. 179540654 c.34447G>A p.A11483T missense 0.00002647●●●●●●
4449. 179540644 c.34453+4T>A splice site 0.00001383●●●●●●
4450. 179540642 c.34453+6delG splice site 0.00002821●●●●●●
4451. 179540461 c.34474C>A p.P11492T missense 0.01142355●●●●●●
4452. 179540430 c.34505G>T p.G11502V missense 0.00234742●●●●●●
4453. 179539846 c.34538-6C>T splice site 0.00000857●●●●●●
4454. 179539845 c.34538-5T>A splice site 0.00000857●●●●●●
4455. 179539814 c.34564G>A p.E11522K missense 0.00000851●●●●●●
4456. 179539812 c.34566A>C p.E11522D missense 0.00441114●●●●●●
4457. 179539807 c.34571G>A p.R11524Q missense 0.00011098●●●●●●
4458. 179539777 c.34601T>C p.L11534P missense 0.00006241●●●●●●
4459. 179539765 c.34612+1G>A essential splice site 0.00001904●●●●●●
4460. 179539763 c.34612+3A>G splice site 0.00000968●●●●●●
4461. 179539760 c.34612+6T>C splice site 0.00000992●●●●●●
4462. 179539141 c.34613-5T>C splice site 0.00004471●●●●●●
4463. 179539137 c.34613-1G>T essential splice site 0.00001934●●●●●●
4464. 179539135 c.34614G>A splice site 0.00003640●●●●●●
4465. 179539128 c.34621G>A p.E11541K missense 0.00001583●●●●●●
4466. 179539113 c.34636C>A p.P11546T missense 0.00001509●●●●●●
4467. 179539099 c.34650A>C p.E11550D missense 0.00008872●●●●●●
4468. 179539095 c.34654A>G p.I11552V missense 0.00002954●●●●●●
4469. 179539086 c.34663_34665delGAA p.Glu11555del inframe 0.00018190●●●●●●
4470. 179539080 c.34669C>T p.P11557S missense 0.00001538●●●●●●
4471. 179539076 c.34673G>A p.S11558N missense 0.00001587●●●●●●
4472. 179539074 c.34675A>G p.I11559V missense 0.00001611●●●●●●
4473. 179539071 c.34678G>A p.E11560K missense 0.00001656●●●●●●
4474. 179539053 c.34696G>T p.A11566S missense 0.00008741●●●●●●
4475. 179539053 c.34696G>A p.A11566T missense 0.00002185●●●●●●
4476. 179539033 c.34708+8C>A splice site 0.00106697●●●●●●
4477. 179539033 c.34708+8C>T splice site 0.00005472●●●●●●
4478. 179538435 c.34711C>T p.P11571S missense 0.00000839●●●●●●
4479. 179538425 c.34721T>C p.I11574T missense 0.00000835●●●●●●
4480. 179538411 c.34735C>T p.P11579S missense 0.00002501●●●●●●
4481. 179538410 c.34736C>T p.P11579L missense 0.00000834●●●●●●
4482. 179538393 c.34753G>A p.V11585I missense 0.00000833●●●●●●
4483. 179538384 c.34762A>G p.K11588E missense 0.00000834●●●●●●
4484. 179538378 c.34768G>C p.E11590Q missense 0.00007508●●●●●●
4485. 179538377 c.34769A>G p.E11590G missense 0.00059232●●●●●●
4486. 179538374 c.34772C>T p.A11591V missense 0.00001669●●●●●●
4487. 179538369 c.34777C>T p.P11593S missense 0.00003341●●●●●●
4488. 179538368 c.34778C>T p.P11593L missense 0.00001671●●●●●●
4489. 179538352 c.34786+8A>G splice site 0.00005057●●●●●●
4490. 179537434 c.34787-4A>C splice site 0.00006062●●●●●●
4491. 179537431 c.34787-1G>T essential splice site 0.00001444●●●●●●
4492. 179537407 c.34810A>G p.K11604E missense 0.00001143●●●●●●
4493. 179537397 c.34820T>C p.V11607A missense 0.00001062●●●●●●
4494. 179537392 c.34825G>C p.V11609L missense 0.00001037●●●●●●
4495. 179537391 c.34826T>C p.V11609A missense 0.00001034●●●●●●
4496. 179537387 c.34830G>T p.Q11610H missense 0.00001008●●●●●●
4497. 179537380 c.34837G>T p.E11613X nonsense 0.00000976●●●●●●
4498. 179537371 c.34846C>G p.P11616A missense 0.00000946●●●●●●
4499. 179537361 c.34855+1G>A essential splice site 0.00005521●●●●●●
4500. 179537355 c.34855+7C>T splice site 0.00000908●●●●●●
4501. 179537203 c.34861G>A p.E11621K missense 0.00000835●●●●●●
4502. 179537200 c.34864G>A p.V11622I missense 0.00367635●●●●●●
4503. 179537188 c.34876G>A p.V11626I missense 0.00000836●●●●●●
4504. 179537187 c.34877T>A p.V11626D missense 0.00000835●●●●●●
4505. 179537170 c.34894C>A p.L11632I missense 0.00004178●●●●●●
4506. 179537149 c.34915G>A p.V11639I missense 0.00000836●●●●●●
4507. 179537139 c.34925C>G p.A11642G missense 0.00000836●●●●●●
4508. 179537132 c.34930+2T>C essential splice site 0.00000836●●●●●●
4509. 179536971 c.34954G>T p.V11652L missense 0.00002521●●●●●●
4510. 179536961 c.34964C>T p.A11655V missense 0.00002592●●●●●●
4511. 179536955 c.34970G>A p.R11657H missense 0.00306230●●●●●●
4512. 179536944 c.34981G>A p.V11661I missense 0.00002612●●●●●●
4513. 179536943 c.34982T>C p.V11661A missense 0.00013022●●●●●●
4514. 179536930 c.34995A>T p.R11665S missense 0.00002499●●●●●●
4515. 179536914 c.35011G>T p.V11671L missense 0.00002195●●●●●●
4516. 179536901 c.35024T>C p.V11675A missense 0.00001810●●●●●●
4517. 179536889 c.35036C>T p.P11679L missense 0.00004705●●●●●●
4518. 179536884 c.35041G>A p.E11681K missense 0.00013028●●●●●●
4519. 179536846 c.35079A>C p.E11693D missense 0.00000944●●●●●●
4520. 179536842 c.35083G>A p.E11695K missense 0.00000917●●●●●●
4521. 179536793 c.35132_35133insTGTCTTTCTTCTGTATTTCTTGTTTCTGAC p.Glu11711delinsAspValPheLeuLeuTyrPheLeuPheLeuThr inframe 0.00000833●●●●●●
4522. 179536769 c.35156T>A p.V11719D missense 0.00000831●●●●●●
4523. 179536757 c.35168T>A p.I11723K missense 0.00000830●●●●●●
4524. 179536748 c.35177T>C p.F11726S missense 0.00000830●●●●●●
4525. 179536740 c.35185G>A p.E11729K missense 0.00010793●●●●●●
4526. 179536728 c.35197G>A p.V11733I missense 0.00000830●●●●●●
4527. 179536717 c.35208A>C p.K11736N missense 0.00002491●●●●●●
4528. 179536704 c.35221C>T p.P11741S missense 0.00000831●●●●●●
4529. 179536703 c.35222C>T p.P11741L missense 0.00000831●●●●●●
4530. 179535906 c.35228-9T>A splice site 0.00011316●●●●●●
4531. 179535905 c.35228-8C>A splice site 0.00003078●●●●●●
4532. 179535892 c.35233G>A p.E11745K missense 0.00003846●●●●●●
4533. 179535876 c.35249T>C p.I11750T missense 0.00000897●●●●●●
4534. 179535871 c.35254C>A p.P11752T missense 0.00000884●●●●●●
4535. 179535861 c.35264A>C p.K11755T missense 0.00063010●●●●●●
4536. 179535858 c.35267C>T p.P11756L missense 0.00004370●●●●●●
4537. 179535858 c.35267C>A p.P11756Q missense 0.00008741●●●●●●
4538. 179535847 c.35278G>T p.V11760F missense 0.00000872●●●●●●
4539. 179535846 c.35279T>C p.V11760A missense 0.00000872●●●●●●
4540. 179535844 c.35281G>T p.V11761F missense 0.00001744●●●●●●
4541. 179535837 c.35288G>A p.R11763Q missense 0.00000875●●●●●●
4542. 179535826 c.35299C>T p.P11767S missense 0.00001778●●●●●●
4543. 179535817 c.35308G>A p.V11770I missense 0.00000914●●●●●●
4544. 179535817 c.35308G>C p.V11770L missense 0.00000914●●●●●●
4545. 179535815 c.35308+2T>C essential splice site 0.00000922●●●●●●
4546. 179535813 c.35308+4T>A splice site 0.00000928●●●●●●
4547. 179535019 c.35312C>T p.P11771L missense 0.00011309●●●●●●
4548. 179535017 c.35314G>A p.E11772K missense 0.00001565●●●●●●
4549. 179535005 c.35326A>C p.K11776Q missense 0.00004368●●●●●●
4550. 179534981 c.35350C>T p.R11784C missense 0.00001382●●●●●●
4551. 179534980 c.35351G>A p.R11784H missense 0.00001386●●●●●●
4552. 179534974 c.35357C>G p.P11786R missense 0.00001393●●●●●●
4553. 179534972 c.35359G>A p.E11787K missense 0.00001402●●●●●●
4554. 179534968 c.35363A>G p.E11788G missense 0.00002834●●●●●●
4555. 179534966 c.35365C>A p.P11789T missense 0.00008598●●●●●●
4556. 179534965 c.35366C>A p.P11789H missense 0.00002888●●●●●●
4557. 179534960 c.35371G>T p.V11791F missense 0.00010511●●●●●●
4558. 179534951 c.35380A>T p.T11794S missense 0.00005087●●●●●●
4559. 179534402 c.35387C>A p.A11796E missense 0.00003485●●●●●●
4560. 179534400 c.35389C>T p.P11797S missense 0.00003485●●●●●●
4561. 179534397 c.35392G>A p.E11798K missense 0.00007835●●●●●●
4562. 179534390 c.35399C>T p.P11800L missense 0.00000870●●●●●●
4563. 179534387 c.35402A>G p.K11801R missense 0.00000870●●●●●●
4564. 179534380 c.35409T>G p.I11803M missense 0.00029560●●●●●●
4565. 179534376 c.35413C>T p.P11805S missense 0.00000869●●●●●●
4566. 179534361 c.35428C>T p.R11810C missense 0.00001738●●●●●●
4567. 179534360 c.35429G>A p.R11810H missense 0.00000869●●●●●●
4568. 179534346 c.35443A>G p.K11815E missense 0.00001738●●●●●●
4569. 179534327 c.35462C>T p.P11821L missense 0.00000869●●●●●●
4570. 179534325 c.35464G>T p.A11822S missense 0.00000869●●●●●●
4571. 179534324 c.35465C>G p.A11822G missense 0.00000869●●●●●●
4572. 179534166 c.35479A>G p.M11827V missense 0.00003506●●●●●●
4573. 179534164 c.35481G>A p.M11827I missense 0.00047932●●●●●●
4574. 179534153 c.35492G>A p.S11831N missense 0.00004281●●●●●●
4575. 179534130 c.35515A>G p.I11839V missense 0.00005397●●●●●●
4576. 179532455 c.35546-7T>C splice site 0.00002672●●●●●●
4577. 179532446 c.35548T>A p.Y11850N missense 0.00011555●●●●●●
4578. 179532443 c.35551G>A p.E11851K missense 0.00000888●●●●●●
4579. 179532437 c.35557T>A p.S11853T missense 0.00000888●●●●●●
4580. 179532409 c.35585T>C p.V11862A missense 0.00001774●●●●●●
4581. 179532406 c.35588T>G p.L11863R missense 0.00000887●●●●●●
4582. 179532400 c.35594C>T p.T11865I missense 0.00013306●●●●●●
4583. 179532382 c.35612A>C p.K11871T missense 0.00000887●●●●●●
4584. 179532377 c.35617A>G p.K11873E missense 0.00003548●●●●●●
4585. 179532377 c.35617A>C p.K11873Q missense 0.00000887●●●●●●
4586. 179532362 c.35629+3A>G splice site 0.00000887●●●●●●
4587. 179532258 c.35630-6T>C splice site 0.00000959●●●●●●
4588. 179532249 c.35633C>G p.P11878R missense 0.00000971●●●●●●
4589. 179532237 c.35645A>G p.K11882R missense 0.00000988●●●●●●
4590. 179532226 c.35656C>G p.P11886A missense 0.00002019●●●●●●
4591. 179532213 c.35669T>C p.I11890T missense 0.00001046●●●●●●
4592. 179532212 c.35670A>G p.I11890M missense 0.00001051●●●●●●
4593. 179532211 c.35671T>C p.Y11891H missense 0.00001058●●●●●●
4594. 179532204 c.35678C>G p.T11893S missense 0.00001090●●●●●●
4595. 179532180 c.35702C>T p.P11901L missense 0.00001289●●●●●●
4596. 179532170 c.35712A>G splice site 0.00001369●●●●●●
4597. 179532168 c.35713+1delG essential splice site 0.00005578●●●●●●
4598. 179532167 c.35713+2T>C essential splice site 0.00001395●●●●●●
4599. 179532043 c.35717C>G p.P11906R missense 0.00005334●●●●●●
4600. 179532041 c.35719G>A p.D11907N missense 0.00001765●●●●●●
4601. 179532040 c.35720A>T p.D11907V missense 0.00003519●●●●●●
4602. 179532019 c.35741C>G p.P11914R missense 0.00001673●●●●●●
4603. 179531993 c.35767C>T p.P11923S missense 0.00005272●●●●●●
4604. 179531986 c.35774T>C p.I11925T missense 0.00001868●●●●●●
4605. 179531959 c.35797+4T>C splice site 0.00002704●●●●●●
4606. 179531635 c.35798-7T>G splice site 0.00004961●●●●●●
4607. 179531604 c.35822T>C p.I11941T missense 0.00007871●●●●●●
4608. 179531602 c.35824C>G p.P11942A missense 0.00003931●●●●●●
4609. 179531598 c.35828dupA p.Glu11945ArgfsTer6 frameshift 0.00003914●●●●●●
4610. 179531583 c.35843T>C p.I11948T missense 0.00007761●●●●●●
4611. 179531562 c.35864C>T p.P11955L missense 0.00004100●●●●●●
4612. 179531559 c.35867C>T p.S11956L missense 0.00004166●●●●●●
4613. 179531550 c.35875+1G>C essential splice site 0.00004397●●●●●●
4614. 179531549 c.35875+2T>C essential splice site 0.00008850●●●●●●
4615. 179531543 c.35875+8T>G splice site 0.00068108●●●●●●
4616. 179530473 c.35921T>C p.M11974T missense 0.00193798●●●●●●
4617. 179530154 c.35993T>G p.M11998R missense 0.00002608●●●●●●
4618. 179530131 c.36016G>A p.E12006K missense 0.00000869●●●●●●
4619. 179530128 c.36019G>C p.E12007Q missense 0.00007824●●●●●●
4620. 179530121 c.36026A>G p.E12009G missense 0.00000869●●●●●●
4621. 179530118 c.36029C>G p.T12010S missense 0.00000869●●●●●●
4622. 179530116 c.36031C>T p.P12011S missense 0.00005217●●●●●●
4623. 179530113 c.36034C>T p.R12012C missense 0.00000870●●●●●●
4624. 179530112 c.36035G>T p.R12012L missense 0.00001739●●●●●●
4625. 179530112 c.36035G>A p.R12012H missense 0.00001739●●●●●●
4626. 179530110 c.36037A>G p.M12013V missense 0.00000870●●●●●●
4627. 179530100 c.36043+4C>T splice site 0.00001740●●●●●●
4628. 179530099 c.36043+5G>A splice site 0.00000870●●●●●●
4629. 179530098 c.36043+6T>C splice site 0.00002609●●●●●●
4630. 179529653 c.36044C>G p.T12015R missense 0.00030015●●●●●●
4631. 179529653 c.36044C>T p.T12015M missense 0.00010005●●●●●●
4632. 179529648 c.36049G>A p.E12017K missense 0.00002702●●●●●●
4633. 179529647 c.36050A>G p.E12017G missense 0.00001330●●●●●●
4634. 179529618 c.36079A>G p.T12027A missense 0.00001083●●●●●●
4635. 179529615 c.36082G>C p.V12028L missense 0.00037213●●●●●●
4636. 179529609 c.36088T>G p.S12030A missense 0.00074402●●●●●●
4637. 179529588 c.36109T>C p.S12037P missense 0.00000987●●●●●●
4638. 179529587 c.36110C>T p.S12037L missense 0.00002960●●●●●●
4639. 179529584 c.36113T>A p.V12038D missense 0.00000984●●●●●●
4640. 179529575 c.36118+4C>T splice site 0.00000979●●●●●●
4641. 179529463 c.36120G>T splice site 0.00000883●●●●●●
4642. 179529457 c.36126A>C p.E12042D missense 0.00178971●●●●●●
4643. 179529456 c.36127G>A p.A12043T missense 0.00002643●●●●●●
4644. 179529441 c.36142G>C p.V12048L missense 0.00000876●●●●●●
4645. 179529425 c.36158C>T p.T12053M missense 0.00004376●●●●●●
4646. 179529413 c.36170C>A p.P12057H missense 0.00000874●●●●●●
4647. 179529396 c.36187G>A p.V12063I missense 0.00000874●●●●●●
4648. 179529390 c.36193C>A p.P12065T missense 0.00001750●●●●●●
4649. 179529387 c.36196G>A p.D12066N missense 0.00005250●●●●●●
4650. 179529385 c.36198T>A p.D12066E missense 0.00000875●●●●●●
4651. 179529385 c.36198T>G p.D12066E missense 0.00001751●●●●●●
4652. 179529380 c.36202+1G>T essential splice site 0.00000876●●●●●●
4653. 179529378 c.36202+3A>G splice site 0.00001752●●●●●●
4654. 179529273 c.36203-9T>C splice site 0.03397272●●●●●●
4655. 179529272 c.36203-8C>T splice site 0.00000871●●●●●●
4656. 179529264 c.36203T>C p.V12068A missense 0.00000871●●●●●●
4657. 179529255 c.36212C>G p.A12071G missense 0.00002611●●●●●●
4658. 179529252 c.36215T>C p.L12072P missense 0.00000870●●●●●●
4659. 179529240 c.36227T>C p.V12076A missense 0.00000870●●●●●●
4660. 179529238 c.36229C>T p.P12077S missense 0.00000870●●●●●●
4661. 179529237 c.36230C>T p.P12077L missense 0.00000870●●●●●●
4662. 179529225 c.36242T>G p.V12081G missense 0.00002610●●●●●●
4663. 179529219 c.36248C>G p.P12083R missense 0.00000870●●●●●●
4664. 179529217 c.36250C>T p.P12084S missense 0.00001740●●●●●●
4665. 179529213 c.36254A>G p.Q12085R missense 0.00028718●●●●●●
4666. 179529199 c.36268G>C p.V12090L missense 0.00000871●●●●●●
4667. 179529193 c.36274G>A p.V12092I missense 0.00000871●●●●●●
4668. 179529187 c.36280G>A p.V12094M missense 0.00000871●●●●●●
4669. 179529186 c.36280+1G>T essential splice site 0.00000871●●●●●●
4670. 179528833 c.36281-8C>A splice site 0.00000884●●●●●●
4671. 179528826 c.36281-1G>C essential splice site 0.00000879●●●●●●
4672. 179528820 c.36286G>A p.E12096K missense 0.00002624●●●●●●
4673. 179528820 c.36286G>C p.E12096Q missense 0.00002624●●●●●●
4674. 179528810 c.36296_36297delAA p.Lys12099ArgfsTer5 frameshift 0.00000870●●●●●●
4675. 179528808 c.36298G>C p.E12100Q missense 0.00000870●●●●●●
4676. 179528807 c.36299A>T p.E12100V missense 0.00742622●●●●●●
4677. 179528805 c.36301A>C p.I12101L missense 0.00000870●●●●●●
4678. 179528803 c.36303T>G p.I12101M missense 0.00001738●●●●●●
4679. 179528802 c.36304A>T p.I12102F missense 0.00000869●●●●●●
4680. 179528791 c.36315G>T p.K12105N missense 0.00000868●●●●●●
4681. 179528787 c.36319G>A p.V12107M missense 0.00000867●●●●●●
4682. 179528783 c.36323C>T p.S12108L missense 0.00001734●●●●●●
4683. 179528778 c.36328G>A p.V12110M missense 0.00000867●●●●●●
4684. 179528778 c.36328G>T p.V12110L missense 0.00000867●●●●●●
4685. 179528763 c.36343C>A p.P12115T missense 0.00000866●●●●●●
4686. 179528762 c.36344C>G p.P12115R missense 0.00002599●●●●●●
4687. 179528759 c.36347A>G p.E12116G missense 0.00207045●●●●●●
4688. 179528748 c.36358_36360delGTT p.Val12120del inframe 0.00000866●●●●●●
4689. 179528741 c.36364+1G>C essential splice site 0.00002598●●●●●●
4690. 179528636 c.36365-7T>C splice site 0.00001724●●●●●●
4691. 179528630 c.36365-1G>C essential splice site 0.00000862●●●●●●
4692. 179528630 c.36365-1G>A essential splice site 0.00000862●●●●●●
4693. 179528627 c.36367C>G p.P12123A missense 0.00003447●●●●●●
4694. 179528611 c.36383A>T p.E12128V missense 0.00000862●●●●●●
4695. 179528606 c.36388A>C p.I12130L missense 0.00000862●●●●●●
4696. 179528603 c.36391C>T p.R12131C missense 0.00023264●●●●●●
4697. 179528603 c.36391C>A p.R12131S missense 0.00000862●●●●●●
4698. 179528602 c.36392G>A p.R12131H missense 0.00009479●●●●●●
4699. 179528597 c.36397G>A p.E12133K missense 0.00000862●●●●●●
4700. 179528595 c.36399G>C p.E12133D missense 0.00000861●●●●●●
4701. 179528591 c.36403G>A p.V12135M missense 0.00000861●●●●●●
4702. 179528583 c.36411G>T p.L12137F missense 0.00000861●●●●●●
4703. 179528582 c.36412G>C p.A12138P missense 0.00000861●●●●●●
4704. 179528581 c.36413C>T p.A12138V missense 0.00000861●●●●●●
4705. 179528579 c.36415C>A p.P12139T missense 0.00000861●●●●●●
4706. 179528569 c.36425A>T p.E12142V missense 0.00000861●●●●●●
4707. 179528569 c.36425A>G p.E12142G missense 0.00000861●●●●●●
4708. 179528567 c.36427C>G p.P12143A missense 0.00000861●●●●●●
4709. 179528567 c.36427C>T p.P12143S missense 0.00000861●●●●●●
4710. 179528560 c.36434T>G p.V12145G missense 0.00000861●●●●●●
4711. 179528558 c.36436C>A p.P12146T missense 0.00001722●●●●●●
4712. 179528549 c.36445A>G p.K12149E missense 0.00000861●●●●●●
4713. 179528546 c.36448G>T p.V12150L missense 0.00003443●●●●●●
4714. 179528541 c.36448+5T>G splice site 0.00000861●●●●●●
4715. 179528445 c.36449-8C>A splice site 0.00001705●●●●●●
4716. 179528438 c.36449-1G>C essential splice site 0.00000852●●●●●●
4717. 179528435 c.36451C>T p.P12151S missense 0.00014475●●●●●●
4718. 179528432 c.36454G>C p.E12152Q missense 0.00003405●●●●●●
4719. 179528431 c.36455A>G p.E12152G missense 0.00000851●●●●●●
4720. 179528429 c.36457C>G p.P12153A missense 0.00000851●●●●●●
4721. 179528425 c.36461C>G p.P12154R missense 0.00031468●●●●●●
4722. 179528420 c.36466G>C p.E12156Q missense 0.00007651●●●●●●
4723. 179528414 c.36472G>C p.V12158L missense 0.00003399●●●●●●
4724. 179528396 c.36490C>A p.P12164T missense 0.00005939●●●●●●
4725. 179528393 c.36493G>T p.V12165L missense 0.00003394●●●●●●
4726. 179528390 c.36496G>C p.A12166P missense 0.00001696●●●●●●
4727. 179528387 c.36499C>T p.P12167S missense 0.00000848●●●●●●
4728. 179528384 c.36502C>G p.P12168A missense 0.00003390●●●●●●
4729. 179528383 c.36503C>T p.P12168L missense 0.00001695●●●●●●
4730. 179528378 c.36508G>A p.E12170K missense 0.14758806●●●●●●
4731. 179528377 c.36509A>T p.E12170V missense 0.00232952●●●●●●
4732. 179528372 c.36514G>C p.E12172Q missense 0.00000847●●●●●●
4733. 179528369 c.36517G>C p.V12173L missense 0.00000847●●●●●●
4734. 179528355 c.36531A>G splice site 0.00000845●●●●●●
4735. 179528349 c.36532+5T>C splice site 0.00000843●●●●●●
4736. 179528348 c.36532+6T>C splice site 0.00000843●●●●●●
4737. 179528220 c.36556_36558delGTT p.Val12186del inframe 0.00001702●●●●●●
4738. 179528068 c.36625G>T p.V12209L missense 0.02690832●●●●●●
4739. 179528038 c.36655T>G p.L12219V missense 0.01497981●●●●●●
4740. 179528017 c.36676A>G p.K12226E missense 0.00183635●●●●●●
4741. 179527095 c.37009C>T p.P12337S missense 0.02018512●●●●●●
4742. 179526535 c.37236G>T p.K12412N missense 0.00000865●●●●●●
4743. 179522825 c.37771C>A p.P12591T missense 0.00000907●●●●●●
4744. 179522298 c.37965dupT p.Pro12656SerfsTer7 frameshift 0.00001798●●●●●●
4745. 179519027 c.38297-9T>A splice site 0.00023338●●●●●●
4746. 179519009 c.38306C>T p.A12769V missense 0.00001770●●●●●●
4747. 179519004 c.38311A>G p.K12771E missense 0.00022986●●●●●●
4748. 179518998 c.38317G>T p.V12773F missense 0.00000883●●●●●●
4749. 179518994 c.38321T>C p.V12774A missense 0.00000883●●●●●●
4750. 179518992 c.38323C>T p.L12775F missense 0.00135968●●●●●●
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5465. 179490092 c.44456C>T p.T14819I missense 0.00005809●●●●●●
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5467. 179490079 c.44469G>T p.R14823S missense 0.00000830●●●●●●
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5475. 179490023 c.44525C>T p.T14842I missense 0.00000829●●●●●●
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5483. 179489431 c.44576T>C p.L14859P missense 0.00003356●●●●●●
5484. 179489419 c.44588C>T p.T14863M missense 0.00004187●●●●●●
5485. 179489419 c.44588C>G p.T14863R missense 0.00000837●●●●●●
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5490. 179489368 c.44639A>G p.N14880S missense 0.00000833●●●●●●
5491. 179489365 c.44642C>T p.A14881V missense 0.00000833●●●●●●
5492. 179489315 c.44692T>C p.Y14898H missense 0.00000832●●●●●●
5493. 179489275 c.44732T>A p.I14911K missense 0.00000832●●●●●●
5494. 179489274 c.44733A>G p.I14911M missense 0.00005822●●●●●●
5495. 179489273 c.44734C>T p.H14912Y missense 0.00006653●●●●●●
5496. 179489266 c.44741G>A p.C14914Y missense 0.00002495●●●●●●
5497. 179489263 c.44744C>T p.T14915I missense 0.00000832●●●●●●
5498. 179489245 c.44762C>T p.T14921I missense 0.00000831●●●●●●
5499. 179489239 c.44768C>G p.T14923S missense 0.00000831●●●●●●
5500. 179489233 c.44774A>G p.D14925G missense 0.00003326●●●●●●
5501. 179489225 c.44782G>A p.D14928N missense 0.00000831●●●●●●
5502. 179489216 c.44791A>G p.T14931A missense 0.00000831●●●●●●
5503. 179489195 c.44812G>A p.V14938M missense 0.00001663●●●●●●
5504. 179489194 c.44813T>C p.V14938A missense 0.00011640●●●●●●
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5506. 179489187 c.44815+5G>A splice site 0.00000832●●●●●●
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5508. 179487501 c.44816-7C>T splice site 0.00003471●●●●●●
5509. 179487498 c.44816-4A>G splice site 0.00006813●●●●●●
5510. 179487495 c.44816-1G>A essential splice site 0.00001637●●●●●●
5511. 179487464 c.44846C>G p.T14949S missense 0.00001343●●●●●●
5512. 179487462 c.44848G>A p.D14950N missense 0.00005324●●●●●●
5513. 179487460 c.44850C>A p.D14950E missense 0.00001321●●●●●●
5514. 179487431 c.44879G>A p.R14960Q missense 0.00001251●●●●●●
5515. 179487414 c.44896T>C p.S14966P missense 0.00001312●●●●●●
5516. 179487410 c.44900G>A p.R14967Q missense 0.00008219●●●●●●
5517. 179486733 c.44916T>A p.V14972V splice site 0.00002395●●●●●●
5518. 179486720 c.44929G>A p.D14977N missense 0.00001118●●●●●●
5519. 179486699 c.44950G>C p.G14984R missense 0.00004900●●●●●●
5520. 179486699 c.44950G>T p.G14984C missense 0.00000980●●●●●●
5521. 179486684 c.44965A>G p.I14989V missense 0.00000925●●●●●●
5522. 179486681 c.44968A>C p.I14990L missense 0.00000915●●●●●●
5523. 179486679 c.44970A>G p.I14990M missense 0.00000915●●●●●●
5524. 179486671 c.44978G>A p.G14993E missense 0.00006196●●●●●●
5525. 179486663 c.44986C>T p.R14996C missense 0.00000865●●●●●●
5526. 179486662 c.44987G>A p.R14996H missense 0.00004323●●●●●●
5527. 179486651 c.44998A>G p.I15000V missense 0.00000852●●●●●●
5528. 179486648 c.45001A>C p.N15001H missense 0.00005090●●●●●●
5529. 179486635 c.45014T>C p.L15005P missense 0.00002528●●●●●●
5530. 179486633 c.45016G>T p.D15006Y missense 0.00000842●●●●●●
5531. 179486599 c.45050C>G p.T15017R missense 0.00000837●●●●●●
5532. 179486596 c.45053C>T p.A15018V missense 0.00069498●●●●●●
5533. 179486596 c.45053C>A p.A15018E missense 0.00017584●●●●●●
5534. 179486590 c.45059C>A p.T15020N missense 0.00006697●●●●●●
5535. 179486580 c.45069G>T p.M15023I missense 0.00000837●●●●●●
5536. 179486563 c.45082+4A>T splice site 0.00000839●●●●●●
5537. 179486560 c.45082+7G>A splice site 0.00001678●●●●●●
5538. 179486478 c.45083-10A>G splice site 0.00757325●●●●●●
5539. 179486472 c.45083-4G>A splice site 0.00000871●●●●●●
5540. 179486472 c.45083-4G>C splice site 0.00000871●●●●●●
5541. 179486462 c.45089_45091delAAG p.E15030_A15031delinsA inframe 0.00021634●●●●●●
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5543. 179486459 c.45092C>G p.A15031G missense 0.00000865●●●●●●
5544. 179486457 c.45094G>A p.V15032I missense 0.00000864●●●●●●
5545. 179486438 c.45113C>G p.A15038G missense 0.00000857●●●●●●
5546. 179486434 c.45117C>A p.N15039K missense 0.00000855●●●●●●
5547. 179486431 c.45120T>G p.I15040M missense 0.00108415●●●●●●
5548. 179486423 c.45128G>A p.S15043N missense 0.00005094●●●●●●
5549. 179486414 c.45137A>G p.D15046G missense 0.00003380●●●●●●
5550. 179486412 c.45139A>C p.T15047P missense 0.00000844●●●●●●
5551. 179486408 c.45143T>A p.I15048K missense 0.00000842●●●●●●
5552. 179486399 c.45152T>C p.V15051A missense 0.00004195●●●●●●
5553. 179486376 c.45175G>A p.A15059T missense 0.00332453●●●●●●
5554. 179486369 c.45182delT p.Val15061GlyfsTer19 frameshift 0.00000835●●●●●●
5555. 179486366 c.45185T>C p.I15062T missense 0.00008346●●●●●●
5556. 179486357 c.45194A>G p.K15065R missense 0.00000834●●●●●●
5557. 179486355 c.45196G>C p.G15066R missense 0.00000834●●●●●●
5558. 179486354 c.45197G>A p.G15066E missense 0.00000834●●●●●●
5559. 179486352 c.45199G>A p.D15067N missense 0.00005003●●●●●●
5560. 179486350 c.45201T>A p.D15067E missense 0.00000834●●●●●●
5561. 179486345 c.45206A>T p.E15069V missense 0.00580029●●●●●●
5562. 179486343 c.45208A>G p.I15070V missense 0.00000833●●●●●●
5563. 179486341 c.45210C>G p.I15070M missense 0.00000833●●●●●●
5564. 179486339 c.45212T>C p.I15071T missense 0.00005832●●●●●●
5565. 179486319 c.45232A>C p.I15078L missense 0.00000833●●●●●●
5566. 179486304 c.45247C>T p.R15083W missense 0.00004997●●●●●●
5567. 179486303 c.45248G>A p.R15083Q missense 0.00004164●●●●●●
5568. 179486297 c.45254G>C p.R15085T missense 0.00002499●●●●●●
5569. 179486283 c.45268C>A p.Q15090K missense 0.00014158●●●●●●
5570. 179486280 c.45271A>T p.N15091Y missense 0.00001666●●●●●●
5571. 179486277 c.45274G>A p.A15092T missense 0.00004165●●●●●●
5572. 179486254 c.45297C>G p.N15099K missense 0.00000834●●●●●●
5573. 179486254 c.45297C>A p.N15099K missense 0.00000834●●●●●●
5574. 179486243 c.45308G>A p.R15103Q missense 0.00000834●●●●●●
5575. 179486241 c.45310C>T p.L15104F missense 0.00000834●●●●●●
5576. 179486233 c.45318C>G p.S15106R missense 0.00001667●●●●●●
5577. 179486228 c.45323G>A p.R15108Q missense 0.00000834●●●●●●
5578. 179486228 c.45323G>C p.R15108P missense 0.00000834●●●●●●
5579. 179486223 c.45328G>A p.D15110N missense 0.00758372●●●●●●
5580. 179486092 c.45353T>C p.L15118P missense 0.00000845●●●●●●
5581. 179486087 c.45358G>A p.A15120T missense 0.00000845●●●●●●
5582. 179486057 c.45388G>A p.E15130K missense 0.00001690●●●●●●
5583. 179486046 c.45399A>C p.E15133D missense 0.00000845●●●●●●
5584. 179486037 c.45408G>T p.K15136N missense 0.00464794●●●●●●
5585. 179486018 c.45427A>G p.I15143V missense 0.00000843●●●●●●
5586. 179486005 c.45440G>A p.S15147N missense 0.00000842●●●●●●
5587. 179485972 c.45473C>T p.T15158I missense 0.00001676●●●●●●
5588. 179485956 c.45489T>G p.D15163E missense 0.00000837●●●●●●
5589. 179485946 c.45499G>A p.V15167I missense 0.00021745●●●●●●
5590. 179485940 c.45505G>A p.A15169T missense 0.00000836●●●●●●
5591. 179485937 c.45508G>A p.D15170N missense 0.00000836●●●●●●
5592. 179485931 c.45514A>G p.K15172E missense 0.00000836●●●●●●
5593. 179485924 c.45521G>A p.R15174K missense 0.00003342●●●●●●
5594. 179485921 c.45524T>C p.V15175A missense 0.00000835●●●●●●
5595. 179485908 c.45537A>T p.K15179N missense 0.00001670●●●●●●
5596. 179485877 c.45568G>A p.V15190I missense 0.00005009●●●●●●
5597. 179485876 c.45569T>C p.V15190A missense 0.00001670●●●●●●
5598. 179485865 c.45580G>A p.G15194R missense 0.00001670●●●●●●
5599. 179485859 c.45586G>A p.A15196T missense 0.00002506●●●●●●
5600. 179485856 c.45589A>G p.R15197G missense 0.00000835●●●●●●
5601. 179485854 c.45591A>C p.R15197S missense 0.00000835●●●●●●
5602. 179485847 c.45598G>A p.A15200T missense 0.00005013●●●●●●
5603. 179485846 c.45599C>G p.A15200G missense 0.00042614●●●●●●
5604. 179485830 c.45615T>A splice site 0.00000836●●●●●●
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5606. 179485708 c.45629T>A p.I15210N missense 0.00000836●●●●●●
5607. 179485693 c.45644A>C p.K15215T missense 0.00001670●●●●●●
5608. 179485685 c.45652C>T p.R15218W missense 0.00005009●●●●●●
5609. 179485682 c.45655G>A p.V15219M missense 0.00000835●●●●●●
5610. 179485664 c.45673G>A p.V15225I missense 0.00002503●●●●●●
5611. 179485651 c.45686G>A p.C15229Y missense 0.00000834●●●●●●
5612. 179485633 c.45704G>A p.G15235D missense 0.00001666●●●●●●
5613. 179485613 c.45724A>G p.R15242G missense 0.00001665●●●●●●
5614. 179485612 c.45725G>A p.R15242K missense 0.00009157●●●●●●
5615. 179485606 c.45731A>C p.E15244A missense 0.00000832●●●●●●
5616. 179485598 c.45739A>G p.I15247V missense 0.00000832●●●●●●
5617. 179485589 c.45748A>T p.S15250C missense 0.00005822●●●●●●
5618. 179485577 c.45760A>T p.I15254F missense 0.00011637●●●●●●
5619. 179485573 c.45764T>C p.I15255T missense 0.00000831●●●●●●
5620. 179485559 c.45778C>G p.L15260V missense 0.00000831●●●●●●
5621. 179485558 c.45779T>C p.L15260P missense 0.00055641●●●●●●
5622. 179485544 c.45793A>G p.R15265G missense 0.00000830●●●●●●
5623. 179485523 c.45814G>A p.D15272N missense 0.00002490●●●●●●
5624. 179485521 c.45816T>A p.D15272E missense 0.00000830●●●●●●
5625. 179485517 c.45820C>G p.Q15274E missense 0.00000830●●●●●●
5626. 179485513 c.45824C>T p.A15275V missense 0.00000830●●●●●●
5627. 179485505 c.45832_45834delAAT p.Asn15278del inframe 0.00000830●●●●●●
5628. 179485498 c.45839C>T p.S15280F missense 0.00000830●●●●●●
5629. 179485494 c.45843G>C p.L15281F missense 0.00007468●●●●●●
5630. 179485447 c.45890T>C p.V15297A missense 0.00000831●●●●●●
5631. 179485442 c.45895G>A p.E15299K missense 0.00000832●●●●●●
5632. 179485441 c.45895+1G>A essential splice site 0.00000832●●●●●●
5633. 179485441 c.45895+1G>T essential splice site 0.00000832●●●●●●
5634. 179485351 c.45897G>C p.E15299D missense 0.00000839●●●●●●
5635. 179485347 c.45901G>C p.D15301H missense 0.00000838●●●●●●
5636. 179485340 c.45908G>T p.R15303M missense 0.00003352●●●●●●
5637. 179485332 c.45916G>A p.E15306K missense 0.00001675●●●●●●
5638. 179485330 c.45918G>C p.E15306D missense 0.00000838●●●●●●
5639. 179485328 c.45920C>T p.P15307L missense 0.00000838●●●●●●
5640. 179485322 c.45926A>C p.K15309T missense 0.00000837●●●●●●
5641. 179485316 c.45932T>C p.I15311T missense 0.00000837●●●●●●
5642. 179485314 c.45934G>C p.E15312Q missense 0.00000837●●●●●●
5643. 179485300 c.45948G>C p.K15316N missense 0.00000837●●●●●●
5644. 179485269 c.45979C>T p.R15327C missense 0.00017527●●●●●●
5645. 179485268 c.45980G>A p.R15327H missense 0.00008344●●●●●●
5646. 179485262 c.45986A>G p.N15329S missense 0.00000834●●●●●●
5647. 179485238 c.46010A>T p.N15337I missense 0.00000833●●●●●●
5648. 179485229 c.46019_46021delAAG p.Glu15340del inframe 0.00000833●●●●●●
5649. 179485212 c.46036C>T p.R15346C missense 0.00002497●●●●●●
5650. 179485211 c.46037G>A p.R15346H missense 0.00000832●●●●●●
5651. 179485208 c.46040T>G p.V15347G missense 0.00007490●●●●●●
5652. 179485206 c.46042T>G p.S15348A missense 0.00000832●●●●●●
5653. 179485193 c.46055A>G p.D15352G missense 0.00003329●●●●●●
5654. 179485191 c.46057A>G p.K15353E missense 0.00000832●●●●●●
5655. 179485183 c.46065G>C p.K15355N missense 0.00033288●●●●●●
5656. 179485172 c.46076C>A p.T15359N missense 0.00000832●●●●●●
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5659. 179485163 c.46085A>G p.D15362G missense 0.00000832●●●●●●
5660. 179485144 c.46104A>C p.E15368D missense 0.00000832●●●●●●
5661. 179485143 c.46105G>A p.G15369S missense 0.00000832●●●●●●
5662. 179485106 c.46142T>C p.V15381A missense 0.00044372●●●●●●
5663. 179485101 c.46147G>C p.E15383Q missense 0.00001683●●●●●●
5664. 179485098 c.46150C>T p.L15384F missense 0.00000844●●●●●●
5665. 179485089 c.46159A>T p.I15387L missense 0.00000852●●●●●●
5666. 179485087 c.46161A>G p.I15387M missense 0.00004272●●●●●●
5667. 179485076 c.46172C>T p.T15391I missense 0.00000872●●●●●●
5668. 179485065 c.46183G>A p.E15395K missense 0.00000884●●●●●●
5669. 179485027 c.46221C>A p.D15407E missense 0.00000904●●●●●●
5670. 179485026 c.46222G>A p.A15408T missense 0.00021730●●●●●●
5671. 179485025 c.46223C>A p.A15408D missense 0.00000905●●●●●●
5672. 179485016 c.46232_46234delCCT p.Ser15411del inframe 0.00000908●●●●●●
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5674. 179484993 c.46255G>A p.A15419T missense 0.00000911●●●●●●
5675. 179484972 c.46276A>T p.N15426Y missense 0.00000913●●●●●●
5676. 179484969 c.46279G>A p.G15427R missense 0.00001825●●●●●●
5677. 179484968 c.46280G>A p.G15427E missense 0.00000913●●●●●●
5678. 179484953 c.46295_46297delAAG p.Glu15432del inframe 0.00002736●●●●●●
5679. 179484950 c.46298G>A p.G15433D missense 0.00000912●●●●●●
5680. 179484938 c.46304+6C>T splice site 0.00000907●●●●●●
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5683. 179484829 c.46315G>C p.E15439Q missense 0.00000835●●●●●●
5684. 179484819 c.46325G>C p.G15442A missense 0.00001669●●●●●●
5685. 179484781 c.46363G>A p.D15455N missense 0.00010015●●●●●●
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5687. 179484774 c.46370_46371insTGA p.Asp15456dup inframe 0.00001670●●●●●●
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5690. 179484769 c.46375G>C p.E15459Q missense 0.00000835●●●●●●
5691. 179484757 c.46387G>A p.G15463R missense 0.00033442●●●●●●
5692. 179484754 c.46390G>T p.V15464L missense 0.00000836●●●●●●
5693. 179484754 c.46390G>A p.V15464I missense 0.00000836●●●●●●
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5695. 179484748 c.46396G>C p.D15466H missense 0.00000837●●●●●●
5696. 179484738 c.46406C>T p.S15469F missense 0.00001675●●●●●●
5697. 179484736 c.46408C>T p.R15470C missense 0.00000838●●●●●●
5698. 179484712 c.46429+3A>G splice site 0.00000842●●●●●●
5699. 179484622 c.46430-8C>T splice site 0.00001692●●●●●●
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9515. 179432820 c.78039A>C p.E26013D missense 0.00002493●●●●●●
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9517. 179432818 c.78041C>T p.P26014L missense 0.00000831●●●●●●
9518. 179432795 c.78064G>A p.V26022I missense 0.00005821●●●●●●
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9523. 179432779 c.78080T>C p.L26027P missense 0.00000832●●●●●●
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9526. 179432741 c.78118G>T p.V26040F missense 0.00000831●●●●●●
9527. 179432736 c.78123C>A p.N26041K missense 0.00000831●●●●●●
9528. 179432729 c.78130A>G p.I26044V missense 0.00004153●●●●●●
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9531. 179432696 c.78163C>G p.L26055V missense 0.00000830●●●●●●
9532. 179432696 c.78163C>A p.L26055I missense 0.00000830●●●●●●
9533. 179432683 c.78176T>C p.I26059T missense 0.00001659●●●●●●
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9535. 179432669 c.78190A>T p.R26064X nonsense 0.00000829●●●●●●
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9538. 179432645 c.78214G>C p.G26072R missense 0.00000828●●●●●●
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9541. 179432635 c.78224A>T p.K26075I missense 0.00000828●●●●●●
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9548. 179432564 c.78295A>G p.M26099V missense 0.00000829●●●●●●
9549. 179432557 c.78302A>C p.K26101T missense 0.00002486●●●●●●
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9551. 179432543 c.78316A>T p.T26106S missense 0.00000829●●●●●●
9552. 179432536 c.78323A>G p.Q26108R missense 0.00001658●●●●●●
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9555. 179432506 c.78353G>T p.S26118I missense 0.00001660●●●●●●
9556. 179432494 c.78365G>A p.G26122D missense 0.00000830●●●●●●
9557. 179432488 c.78371T>A p.I26124N missense 0.00003321●●●●●●
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9559. 179432477 c.78382C>T p.R26128C missense 0.00000831●●●●●●
9560. 179432476 c.78383G>C p.R26128P missense 0.00000831●●●●●●
9561. 179432476 c.78383G>A p.R26128H missense 0.00001661●●●●●●
9562. 179432474 c.78385G>T p.D26129Y missense 0.00018277●●●●●●
9563. 179432468 c.78391C>T p.P26131S missense 0.00000831●●●●●●
9564. 179432465 c.78394G>A p.D26132N missense 0.00000831●●●●●●
9565. 179432459 c.78400C>T p.R26134C missense 0.00001663●●●●●●
9566. 179432458 c.78401G>A p.R26134H missense 0.00004158●●●●●●
9567. 179432446 c.78413C>A p.A26138D missense 0.00000832●●●●●●
9568. 179432434 c.78425A>C p.N26142T missense 0.00000833●●●●●●
9569. 179432428 c.78431T>C p.I26144T missense 0.00014992●●●●●●
9570. 179432427 c.78432T>G p.I26144M missense 0.00000833●●●●●●
9571. 179432420 c.78439C>G p.Q26147E missense 0.00001667●●●●●●
9572. 179432418 c.78441A>T p.Q26147H missense 0.00002500●●●●●●
9573. 179432413 c.78446C>G p.T26149S missense 0.00006667●●●●●●
9574. 179432410 c.78449T>C p.V26150A missense 0.00000833●●●●●●
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9576. 179432398 c.78461C>T p.T26154I missense 0.00000834●●●●●●
9577. 179432396 c.78463G>A p.E26155K missense 0.00000834●●●●●●
9578. 179432374 c.78485G>A p.R26162K missense 0.00000834●●●●●●
9579. 179432369 c.78490A>G p.I26164V missense 0.00001668●●●●●●
9580. 179432356 c.78503C>T p.A26168V missense 0.00000835●●●●●●
9581. 179432342 c.78517A>C p.S26173R missense 0.00002505●●●●●●
9582. 179432335 c.78524C>T p.P26175L missense 0.00000836●●●●●●
9583. 179432321 c.78538G>A p.G26180R missense 0.00000837●●●●●●
9584. 179432296 c.78563T>C p.V26188A missense 0.00003349●●●●●●
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9593. 179432188 c.78671C>T p.T26224I missense 0.00000832●●●●●●
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9610. 179431960 c.78899C>A p.T26300N missense 0.00000842●●●●●●
9611. 179431953 c.78906A>C p.E26302D missense 0.00005042●●●●●●
9612. 179431945 c.78914C>G p.S26305C missense 0.00003356●●●●●●
9613. 179431930 c.78929C>T p.P26310L missense 0.00002510●●●●●●
9614. 179431909 c.78950G>A p.S26317N missense 0.00000833●●●●●●
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9628. 179431787 c.79072G>A p.V26358I missense 0.00002486●●●●●●
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9660. 179431541 c.79318C>T p.R26440C missense 0.00230376●●●●●●
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9691. 179431223 c.79636A>G p.T26546A missense 0.00000829●●●●●●
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10213. 179426803 c.84056C>T p.S28019L missense 0.00000851●●●●●●
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10223. 179426713 c.84146C>T p.T28049I missense 0.00000838●●●●●●
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10226. 179426699 c.84160G>C p.D28054H missense 0.00000837●●●●●●
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10229. 179426672 c.84187C>T p.R28063C missense 0.00002509●●●●●●
10230. 179426671 c.84188G>A p.R28063H missense 0.00010036●●●●●●
10231. 179426666 c.84193G>C p.D28065H missense 0.00002508●●●●●●
10232. 179426656 c.84203G>C p.S28068T missense 0.00003343●●●●●●
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10237. 179426560 c.84299C>T p.T28100I missense 0.00000833●●●●●●
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10239. 179426549 c.84310A>G p.I28104V missense 0.00000833●●●●●●
10240. 179426507 c.84352C>T p.R28118C missense 0.00552799●●●●●●
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10243. 179426497 c.84362C>A p.T28121K missense 0.00000833●●●●●●
10244. 179426495 c.84364G>C p.G28122R missense 0.00000833●●●●●●
10245. 179426485 c.84374A>G p.Y28125C missense 0.00000833●●●●●●
10246. 179426474 c.84385G>T p.V28129F missense 0.00000835●●●●●●
10247. 179426461 c.84398A>G p.N28133S missense 0.00000838●●●●●●
10248. 179426459 c.84400C>T p.R28134C missense 0.00001677●●●●●●
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10251. 179426437 c.84422G>C p.S28141T missense 0.00000845●●●●●●
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10255. 179426411 c.84448T>C p.Y28150H missense 0.00010175●●●●●●
10256. 179426398 c.84461C>T p.P28154L missense 0.00071281●●●●●●
10257. 179426393 c.84466G>C p.G28156R missense 0.00005939●●●●●●
10258. 179426305 c.84554G>A p.R28185Q missense 0.00003348●●●●●●
10259. 179426291 c.84568C>T p.H28190Y missense 0.00000836●●●●●●
10260. 179426271 c.84588A>C p.R28196S missense 0.00001670●●●●●●
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10262. 179426268 c.84591C>A p.S28197R missense 0.00001669●●●●●●
10263. 179426261 c.84598C>T p.L28200F missense 0.00000834●●●●●●
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10271. 179426207 c.84652G>A p.G28218S missense 0.00001660●●●●●●
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10273. 179426188 c.84671T>C p.M28224T missense 0.00000829●●●●●●
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10277. 179426163 c.84696A>C p.E28232D missense 0.00029002●●●●●●
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10304. 179425901 c.84958G>A p.D28320N missense 0.00001660●●●●●●
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10317. 179425787 c.85072A>T p.M28358L missense 0.00000829●●●●●●
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10360. 179425442 c.85417G>A p.G28473R missense 0.00001667●●●●●●
10361. 179425439 c.85420C>T p.R28474C missense 0.00002500●●●●●●
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10383. 179425305 c.85554_85555insTTCC p.Asn28519PhefsTer3 frameshift 0.00000839●●●●●●
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10385. 179425292 c.85567_85570delTTTA p.Phe28523GlufsTer2 frameshift 0.00000840●●●●●●
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10387. 179425256 c.85603G>A p.E28535K missense 0.00000838●●●●●●
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10394. 179425208 c.85651C>A p.P28551T missense 0.00022576●●●●●●
10395. 179425195 c.85664C>T p.T28555M missense 0.00002505●●●●●●
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10399. 179425168 c.85691A>T p.K28564I missense 0.00057492●●●●●●
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10401. 179425151 c.85708T>C p.C28570R missense 0.00000833●●●●●●
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10415. 179425021 c.85838C>T p.T28613I missense 0.00000830●●●●●●
10416. 179425012 c.85847G>A p.R28616Q missense 0.00002489●●●●●●
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10418. 179424989 c.85870C>T p.R28624C missense 0.00000829●●●●●●
10419. 179424988 c.85871G>A p.R28624H missense 0.00011610●●●●●●
10420. 179424925 c.85934C>T p.A28645V missense 0.00000829●●●●●●
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10422. 179424887 c.85972C>T p.P28658S missense 0.00000830●●●●●●
10423. 179424883 c.85976A>C p.K28659T missense 0.00002489●●●●●●
10424. 179424880 c.85979T>C p.I28660T missense 0.00001660●●●●●●
10425. 179424863 c.85996A>C p.T28666P missense 0.00000831●●●●●●
10426. 179424857 c.86002A>G p.I28668V missense 0.00010805●●●●●●
10427. 179424856 c.86003T>C p.I28668T missense 0.00004988●●●●●●
10428. 179424856 c.86003T>A p.I28668K missense 0.00001663●●●●●●
10429. 179424847 c.86012C>A p.A28671D missense 0.00002495●●●●●●
10430. 179424842 c.86017G>C p.V28673L missense 0.00000832●●●●●●
10431. 179424835 c.86024C>T p.P28675L missense 0.00001664●●●●●●
10432. 179424827 c.86032G>A p.D28678N missense 0.00000833●●●●●●
10433. 179424823 c.86036G>A p.G28679D missense 0.00000833●●●●●●
10434. 179424814 c.86045C>T p.P28682L missense 0.00000833●●●●●●
10435. 179424776 c.86083G>A p.D28695N missense 0.00002500●●●●●●
10436. 179424757 c.86102C>T p.S28701F missense 0.00000833●●●●●●
10437. 179424755 c.86104A>C p.I28702L missense 0.00001666●●●●●●
10438. 179424742 c.86117G>A p.R28706Q missense 0.00085820●●●●●●
10439. 179424739 c.86120G>A p.G28707E missense 0.00002500●●●●●●
10440. 179424734 c.86125G>A p.E28709K missense 0.00000833●●●●●●
10441. 179424721 c.86138G>T p.S28713I missense 0.00000832●●●●●●
10442. 179424719 c.86140G>A p.G28714R missense 0.00004995●●●●●●
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10445. 179424703 c.86156C>T p.A28719V missense 0.00000832●●●●●●
10446. 179424698 c.86161T>C p.Y28721H missense 0.00000831●●●●●●
10447. 179424688 c.86171G>C p.R28724T missense 0.00000831●●●●●●
10448. 179424679 c.86180C>T p.S28727F missense 0.00001661●●●●●●
10449. 179424677 c.86182G>C p.V28728L missense 0.00000830●●●●●●
10450. 179424670 c.86189A>C p.K28730T missense 0.00000830●●●●●●
10451. 179424668 c.86191G>A p.V28731I missense 0.00000830●●●●●●
10452. 179424661 c.86198C>G p.A28733G missense 0.00001660●●●●●●
10453. 179424625 c.86234C>G p.A28745G missense 0.00002491●●●●●●
10454. 179424625 c.86234C>T p.A28745V missense 0.00002491●●●●●●
10455. 179424625 c.86234C>A p.A28745E missense 0.00000830●●●●●●
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10460. 179424579 c.86280G>A p.M28760I missense 0.00001664●●●●●●
10461. 179424562 c.86297T>C p.V28766A missense 0.00000834●●●●●●
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10466. 179424545 c.86314T>C p.F28772L missense 0.00000840●●●●●●
10467. 179424538 c.86321T>C p.M28774T missense 0.00000844●●●●●●
10468. 179424523 c.86336G>A p.R28779Q missense 0.00002567●●●●●●
10469. 179424514 c.86345C>T p.P28782L missense 0.00000859●●●●●●
10470. 179424512 c.86347G>A p.V28783I missense 0.00000860●●●●●●
10471. 179424509 c.86350C>G p.P28784A missense 0.00000861●●●●●●
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10474. 179424494 c.86365A>C p.S28789R missense 0.00001728●●●●●●
10475. 179424478 c.86381A>T p.D28794V missense 0.00000866●●●●●●
10476. 179424473 c.86386C>T p.R28796C missense 0.00002599●●●●●●
10477. 179424472 c.86387G>A p.R28796H missense 0.00001735●●●●●●
10478. 179424466 c.86393G>A p.R28798K missense 0.00001732●●●●●●
10479. 179424464 c.86395G>C p.A28799P missense 0.00000866●●●●●●
10480. 179424451 c.86408C>T p.T28803I missense 0.00000864●●●●●●
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10482. 179424440 c.86419C>T p.R28807C missense 0.00000862●●●●●●
10483. 179424439 c.86420G>A p.R28807H missense 0.00004312●●●●●●
10484. 179424428 c.86431A>T p.T28811S missense 0.00001714●●●●●●
10485. 179424425 c.86434A>G p.I28812V missense 0.00020557●●●●●●
10486. 179424424 c.86435T>C p.I28812T missense 0.00002569●●●●●●
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10488. 179424409 c.86450G>A p.R28817K missense 0.00001701●●●●●●
10489. 179424406 c.86453A>G p.N28818S missense 0.00000849●●●●●●
10490. 179424388 c.86471C>T p.T28824I missense 0.00008418●●●●●●
10491. 179424374 c.86485A>G p.N28829D missense 0.00000836●●●●●●
10492. 179424366 c.86493G>C p.L28831F missense 0.00000833●●●●●●
10493. 179424364 c.86495G>C p.S28832T missense 0.00000832●●●●●●
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10495. 179424361 c.86498C>T p.A28833V missense 0.00003327●●●●●●
10496. 179424358 c.86501C>T p.A28834V missense 0.00000831●●●●●●
10497. 179424331 c.86528T>G p.L28843X nonsense 0.00000829●●●●●●
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10499. 179424314 c.86545C>G p.P28849A missense 0.00002487●●●●●●
10500. 179424301 c.86558C>T p.T28853I missense 0.00000829●●●●●●
10501. 179424299 c.86560G>A p.V28854M missense 0.00000829●●●●●●
10502. 179424293 c.86566G>C p.D28856H missense 0.00000829●●●●●●
10503. 179424290 c.86569G>A p.V28857I missense 0.00000829●●●●●●
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10506. 179424259 c.86600A>G p.D28867G missense 0.00000829●●●●●●
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10516. 179424188 c.86671G>C p.A28891P missense 0.00000829●●●●●●
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10519. 179424183 c.86676G>T p.W28892C missense 0.00000829●●●●●●
10520. 179424176 c.86683G>A p.V28895M missense 0.00174921●●●●●●
10521. 179424173 c.86686A>C p.T28896P missense 0.00000829●●●●●●
10522. 179424168 c.86691C>A p.N28897K missense 0.00000829●●●●●●
10523. 179424159 c.86700C>A p.N28900K missense 0.00000829●●●●●●
10524. 179424158 c.86701C>T p.R28901C missense 0.00002490●●●●●●
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10531. 179424077 c.86782G>A p.G28928S missense 0.00000836●●●●●●
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10616. 179422653 c.87428G>T p.G29143V missense 0.00003312●●●●●●
10617. 179422636 c.87445G>T p.D29149Y missense 0.00000828●●●●●●
10618. 179422633 c.87448A>T p.I29150L missense 0.00004969●●●●●●
10619. 179422632 c.87449T>C p.I29150T missense 0.00006625●●●●●●
10620. 179422627 c.87454G>A p.E29152K missense 0.00000828●●●●●●
10621. 179422619 c.87462T>G p.S29154R missense 0.00000828●●●●●●
10622. 179422609 c.87472A>C p.K29158Q missense 0.00000828●●●●●●
10623. 179422585 c.87496G>A p.G29166S missense 0.00004140●●●●●●
10624. 179422579 c.87502A>G p.S29168G missense 0.00000828●●●●●●
10625. 179422563 c.87518A>G p.Y29173C missense 0.00000828●●●●●●
10626. 179422552 c.87529A>G p.K29177E missense 0.00000828●●●●●●
10627. 179422551 c.87530A>G p.K29177R missense 0.00000828●●●●●●
10628. 179422540 c.87541A>C p.S29181R missense 0.00000828●●●●●●
10629. 179422539 c.87542G>A p.S29181N missense 0.00000828●●●●●●
10630. 179422533 c.87548C>A p.A29183E missense 0.00000828●●●●●●
10631. 179422528 c.87553T>C p.W29185R missense 0.00000828●●●●●●
10632. 179422518 c.87563T>A p.V29188E missense 0.00000828●●●●●●
10633. 179422513 c.87568G>C p.A29190P missense 0.00000828●●●●●●
10634. 179422509 c.87572C>T p.T29191I missense 0.00000828●●●●●●
10635. 179422506 c.87575T>G p.V29192G missense 0.00000828●●●●●●
10636. 179422504 c.87577G>A p.A29193T missense 0.00000828●●●●●●
10637. 179422499 c.87582A>C p.R29194S missense 0.00000828●●●●●●
10638. 179422497 c.87584C>A p.T29195N missense 0.00000828●●●●●●
10639. 179422495 c.87586A>G p.M29196V missense 0.00004968●●●●●●
10640. 179422494 c.87587T>C p.M29196T missense 0.00000828●●●●●●
10641. 179422481 c.87600G>C p.M29200I missense 0.00027325●●●●●●
10642. 179422471 c.87610A>C p.T29204P missense 0.00000828●●●●●●
10643. 179422470 c.87611C>G p.T29204R missense 0.00021530●●●●●●
10644. 179422470 c.87611C>T p.T29204I missense 0.00000828●●●●●●
10645. 179422467 c.87614G>A p.G29205E missense 0.00002484●●●●●●
10646. 179422462 c.87619_87621delGAA p.Glu29207del inframe 0.00005797●●●●●●
10647. 179422459 c.87622T>C p.Y29208H missense 0.00000828●●●●●●
10648. 179422458 c.87623A>T p.Y29208F missense 0.00018218●●●●●●
10649. 179422450 c.87631C>A p.R29211S missense 0.00000828●●●●●●
10650. 179422449 c.87632G>A p.R29211H missense 0.00002484●●●●●●
10651. 179422443 c.87638A>G p.K29213R missense 0.00000828●●●●●●
10652. 179422431 c.87650G>A p.R29217H missense 0.00003312●●●●●●
10653. 179422413 c.87668A>G p.H29223R missense 0.00002484●●●●●●
10654. 179422369 c.87706+6T>C splice site 0.00000828●●●●●●
10655. 179422288 c.87707-6T>C splice site 0.00000829●●●●●●
10656. 179422286 c.87707-4G>T splice site 0.00165843●●●●●●
10657. 179422259 c.87730C>T p.P29244S missense 0.00002488●●●●●●
10658. 179422259 c.87730C>G p.P29244A missense 0.00000829●●●●●●
10659. 179422256 c.87733T>C p.W29245R missense 0.00000829●●●●●●
10660. 179422254 c.87735G>C p.W29245C missense 0.00000829●●●●●●
10661. 179422253 c.87736G>C p.V29246L missense 0.00001659●●●●●●
10662. 179422231 c.87758G>A p.S29253N missense 0.00000829●●●●●●
10663. 179422184 c.87805G>A p.V29269I missense 0.00001657●●●●●●
10664. 179422181 c.87808G>A p.V29270I missense 0.00348851●●●●●●
10665. 179422166 c.87823G>C p.E29275Q missense 0.00000829●●●●●●
10666. 179422155 c.87834_87837delCAGA p.Asp29278GlufsTer122 frameshift 0.00000828●●●●●●
10667. 179422153 c.87836G>C p.R29279T missense 0.00000828●●●●●●
10668. 179422139 c.87850T>C p.W29284R missense 0.00000828●●●●●●
10669. 179422112 c.87877C>T p.R29293C missense 0.00183915●●●●●●
10670. 179422111 c.87878G>A p.R29293H missense 0.00005799●●●●●●
10671. 179422100 c.87889T>C p.F29297L missense 0.00000829●●●●●●
10672. 179422099 c.87890T>A p.F29297Y missense 0.00000829●●●●●●
10673. 179422087 c.87902C>A p.T29301K missense 0.00000829●●●●●●
10674. 179422079 c.87910G>C p.A29304P missense 0.00000829●●●●●●
10675. 179422055 c.87934G>A p.V29312M missense 0.00000829●●●●●●
10676. 179422039 c.87950C>G p.A29317G missense 0.00000830●●●●●●
10677. 179422033 c.87956G>A p.G29319E missense 0.00000830●●●●●●
10678. 179422031 c.87958G>A p.V29320I missense 0.00000830●●●●●●
10679. 179422010 c.87979T>C p.S29327P missense 0.00000830●●●●●●
10680. 179422003 c.87986C>T p.P29329L missense 0.00000831●●●●●●
10681. 179421991 c.87998T>C p.I29333T missense 0.00001662●●●●●●
10682. 179421990 c.87999dupT p.Asp29334Ter frameshift 0.00000831●●●●●●
10683. 179421976 c.88009+4C>T splice site 0.00000832●●●●●●
10684. 179421975 c.88009+5G>A splice site 0.00001665●●●●●●
10685. 179421972 c.88009+8T>C splice site 0.00002498●●●●●●
10686. 179421869 c.88012C>T p.P29338S missense 0.00015251●●●●●●
10687. 179421853 c.88028G>A p.R29343H missense 0.00009296●●●●●●
10688. 179421850 c.88031T>A p.I29344N missense 0.00000844●●●●●●
10689. 179421844 c.88037A>T p.D29346V missense 0.00000843●●●●●●
10690. 179421834 c.88047G>T p.K29349N missense 0.00000842●●●●●●
10691. 179421818 c.88063T>C p.S29355P missense 0.00000840●●●●●●
10692. 179421797 c.88084G>T p.D29362Y missense 0.00000838●●●●●●
10693. 179421791 c.88090G>A p.G29364S missense 0.00038480●●●●●●
10694. 179421781 c.88100T>C p.I29367T missense 0.00000835●●●●●●
10695. 179421778 c.88103C>T p.T29368I missense 0.00001669●●●●●●
10696. 179421775 c.88106G>T p.G29369V missense 0.00007508●●●●●●
10697. 179421775 c.88106G>A p.G29369D missense 0.00003337●●●●●●
10698. 179421772 c.88109A>G p.Y29370C missense 0.00001668●●●●●●
10699. 179421769 c.88112T>C p.I29371T missense 0.00005002●●●●●●
10700. 179421769 c.88112T>A p.I29371N missense 0.00000834●●●●●●
10701. 179421764 c.88117G>A p.E29373K missense 0.00005835●●●●●●
10702. 179421758 c.88123C>T p.R29375C missense 0.00005831●●●●●●
10703. 179421757 c.88124G>A p.R29375H missense 0.00002499●●●●●●
10704. 179421749 c.88132C>G p.P29378A missense 0.00000833●●●●●●
10705. 179421725 c.88156A>T p.S29386C missense 0.00008314●●●●●●
10706. 179421718 c.88163C>T p.T29388I missense 0.00000831●●●●●●
10707. 179421709 c.88172C>G p.T29391S missense 0.00001662●●●●●●
10708. 179421703 c.88178C>G p.T29393S missense 0.00000831●●●●●●
10709. 179421698 c.88183T>C p.F29395L missense 0.00013296●●●●●●
10710. 179421694 c.88187T>C p.I29396T missense 0.35060367●●●●●●
10711. 179421692 c.88189_88191delATC p.Ile29397del inframe 0.00001661●●●●●●
10712. 179421667 c.88214A>G p.Q29405R missense 0.00005817●●●●●●
10713. 179421656 c.88225C>T p.R29409C missense 0.00000831●●●●●●
10714. 179421655 c.88226G>A p.R29409H missense 0.00003324●●●●●●
10715. 179421635 c.88246G>T p.V29416F missense 0.00001662●●●●●●
10716. 179421632 c.88249G>C p.G29417R missense 0.00000831●●●●●●
10717. 179421616 c.88265C>T p.P29422L missense 0.00001663●●●●●●
10718. 179421611 c.88270G>C p.E29424Q missense 0.00000832●●●●●●
10719. 179421596 c.88285A>G p.I29429V missense 0.00005828●●●●●●
10720. 179421587 c.88294A>G p.I29432V missense 0.00000834●●●●●●
10721. 179421584 c.88297G>A p.D29433N missense 0.00043383●●●●●●
10722. 179421576 c.88305T>C p.Y29435Y splice site 0.00001672●●●●●●
10723. 179421567 c.88306+8T>C splice site 0.00007557●●●●●●
10724. 179419877 c.88309G>A p.G29437S missense 0.00002517●●●●●●
10725. 179419877 c.88309G>C p.G29437R missense 0.00000839●●●●●●
10726. 179419874 c.88312C>G p.P29438A missense 0.00000839●●●●●●
10727. 179419846 c.88340C>G p.T29447R missense 0.00023406●●●●●●
10728. 179419832 c.88354T>C p.Y29452H missense 0.00000834●●●●●●
10729. 179419829 c.88357A>G p.R29453G missense 0.00000834●●●●●●
10730. 179419822 c.88364G>A p.G29455D missense 0.00000833●●●●●●
10731. 179419792 c.88394C>T p.S29465F missense 0.00272915●●●●●●
10732. 179419784 c.88402C>T p.P29468S missense 0.00000832●●●●●●
10733. 179419783 c.88403C>T p.P29468L missense 0.00004162●●●●●●
10734. 179419780 c.88406C>T p.A29469V missense 0.00013322●●●●●●
10735. 179419756 c.88430A>T p.D29477V missense 0.00000834●●●●●●
10736. 179419755 c.88431_88436delTGATAA p.Asp29477_Lys29479delinsGlu inframe 0.00001667●●●●●●
10737. 179419748 c.88438_88440delGAA p.Glu29480del inframe 0.00000834●●●●●●
10738. 179419727 c.88459G>A p.V29487M missense 0.00042509●●●●●●
10739. 179419727 c.88459G>T p.V29487L missense 0.00000834●●●●●●
10740. 179419726 c.88460delT p.Val29487GlyfsTer27 frameshift 0.00000834●●●●●●
10741. 179419700 c.88486G>A p.A29496T missense 0.00004166●●●●●●
10742. 179419693 c.88493T>C p.I29498T missense 0.00000832●●●●●●
10743. 179419690 c.88496T>G p.L29499R missense 0.00019980●●●●●●
10744. 179419688 c.88498A>C p.I29500L missense 0.00001665●●●●●●
10745. 179419676 c.88510G>A p.D29504N missense 0.00087343●●●●●●
10746. 179419673 c.88513C>T p.R29505C missense 0.00002495●●●●●●
10747. 179419672 c.88514G>A p.R29505H missense 0.00004989●●●●●●
10748. 179419655 c.88531T>C p.Y29511H missense 0.00000831●●●●●●
10749. 179419607 c.88579A>G p.R29527G missense 0.00000830●●●●●●
10750. 179419604 c.88582G>A p.V29528I missense 0.00000830●●●●●●
10751. 179419595 c.88591C>T p.L29531F missense 0.00003318●●●●●●
10752. 179419487 c.88595-8A>G splice site 0.00000828●●●●●●
10753. 179419486 c.88595-7C>T splice site 0.00000828●●●●●●
10754. 179419473 c.88601C>T p.P29534L missense 0.00000828●●●●●●
10755. 179419455 c.88619C>G p.P29540R missense 0.00000828●●●●●●
10756. 179419453 c.88621A>G p.I29541V missense 0.00000828●●●●●●
10757. 179419452 c.88622T>C p.I29541T missense 0.00000828●●●●●●
10758. 179419438 c.88636G>A p.V29546I missense 0.00000828●●●●●●
10759. 179419428 c.88646A>G p.E29549G missense 0.00000828●●●●●●
10760. 179419425 c.88649A>T p.K29550M missense 0.00000828●●●●●●
10761. 179419424 c.88650G>C p.K29550N missense 0.00000828●●●●●●
10762. 179419419 c.88655C>G p.T29552S missense 0.00002485●●●●●●
10763. 179419408 c.88666C>T p.R29556W missense 0.00003313●●●●●●
10764. 179419390 c.88684G>A p.G29562S missense 0.00000828●●●●●●
10765. 179419389 c.88685G>A p.G29562D missense 0.00014911●●●●●●
10766. 179419370 c.88704C>A p.H29568Q missense 0.00000828●●●●●●
10767. 179419369 c.88705T>A p.Y29569N missense 0.00002485●●●●●●
10768. 179419366 c.88708A>G p.I29570V missense 0.00075389●●●●●●
10769. 179419354 c.88720C>T p.R29574C missense 0.00024855●●●●●●
10770. 179419354 c.88720C>G p.R29574G missense 0.00000829●●●●●●
10771. 179419353 c.88721G>A p.R29574H missense 0.00041426●●●●●●
10772. 179419347 c.88727delC p.Thr29576LysfsTer36 frameshift 0.00000828●●●●●●
10773. 179419341 c.88733G>A p.R29578H missense 0.00014087●●●●●●
10774. 179419338 c.88736T>C p.V29579A missense 0.00000829●●●●●●
10775. 179419336 c.88738G>A p.V29580M missense 0.00000829●●●●●●
10776. 179419336 c.88738G>T p.V29580L missense 0.00000829●●●●●●
10777. 179419327 c.88747A>G p.M29583V missense 0.00003315●●●●●●
10778. 179419320 c.88754C>T p.S29585F missense 0.00000829●●●●●●
10779. 179419314 c.88760A>G p.H29587R missense 0.00000829●●●●●●
10780. 179419312 c.88762T>G p.L29588V missense 0.00013262●●●●●●
10781. 179419309 c.88765G>C p.E29589Q missense 0.00000829●●●●●●
10782. 179419306 c.88768G>C p.E29590Q missense 0.00000829●●●●●●
10783. 179419298 c.88776_88778delCAT p.Ile29593del inframe 0.00000829●●●●●●
10784. 179419277 c.88797C>G p.I29599M missense 0.00000831●●●●●●
10785. 179419272 c.88802G>A p.G29601E missense 0.00000831●●●●●●
10786. 179419269 c.88805A>G p.N29602S missense 0.00000832●●●●●●
10787. 179419267 c.88807G>A p.E29603K missense 0.00000832●●●●●●
10788. 179419261 c.88813A>C p.I29605L missense 0.00000834●●●●●●
10789. 179419255 c.88819C>T p.R29607W missense 0.00000838●●●●●●
10790. 179419255 c.88819C>G p.R29607G missense 0.00000838●●●●●●
10791. 179419254 c.88820G>A p.R29607Q missense 0.00004190●●●●●●
10792. 179419248 c.88826G>A p.R29609Q missense 0.00003371●●●●●●
10793. 179419243 c.88831G>T p.V29611L missense 0.00001695●●●●●●
10794. 179419243 c.88831G>A p.V29611M missense 0.00003391●●●●●●
10795. 179419211 c.88863A>C p.E29621D missense 0.00000878●●●●●●
10796. 179419205 c.88869T>G p.D29623E missense 0.00000884●●●●●●
10797. 179419201 c.88873G>A p.V29625I missense 0.00000896●●●●●●
10798. 179419186 c.88888G>A p.A29630T missense 0.00000963●●●●●●
10799. 179419185 c.88889C>A p.A29630E missense 0.00000970●●●●●●
10800. 179419180 c.88894G>C p.V29632L missense 0.00001008●●●●●●
10801. 179419173 c.88894+7C>G splice site 0.00001073●●●●●●
10802. 179419171 c.88894+9T>C splice site 0.00002186●●●●●●
10803. 179418946 c.88895-3T>A splice site 0.00000878●●●●●●
10804. 179418940 c.88898C>A p.T29633K missense 0.00000873●●●●●●
10805. 179418920 c.88918C>T p.P29640S missense 0.00000857●●●●●●
10806. 179418917 c.88921G>A p.E29641K missense 0.00001713●●●●●●
10807. 179418905 c.88933A>T p.I29645F missense 0.00000846●●●●●●
10808. 179418904 c.88934T>C p.I29645T missense 0.00001692●●●●●●
10809. 179418897 c.88941G>T p.K29647N missense 0.00001686●●●●●●
10810. 179418892 c.88946C>T p.S29649L missense 0.00003363●●●●●●
10811. 179418889 c.88949T>C p.M29650T missense 0.00003355●●●●●●
10812. 179418884 c.88954G>A p.V29652I missense 0.00000837●●●●●●
10813. 179418883 c.88955T>C p.V29652A missense 0.00000837●●●●●●
10814. 179418866 c.88972A>G p.I29658V missense 0.00010828●●●●●●
10815. 179418865 c.88973T>C p.I29658T missense 0.00003331●●●●●●
10816. 179418856 c.88982G>A p.G29661D missense 0.00000832●●●●●●
10817. 179418854 c.88984G>A p.G29662S missense 0.00023279●●●●●●
10818. 179418835 c.89003A>T p.Y29668F missense 0.00000830●●●●●●
10819. 179418820 c.89018G>A p.R29673Q missense 0.00019896●●●●●●
10820. 179418820 c.89018G>T p.R29673L missense 0.00001658●●●●●●
10821. 179418803 c.89035G>C p.G29679R missense 0.00000829●●●●●●
10822. 179418794 c.89044A>C p.K29682Q missense 0.00001657●●●●●●
10823. 179418791 c.89047G>A p.V29683I missense 0.00001657●●●●●●
10824. 179418784 c.89054A>G p.K29685R missense 0.00001657●●●●●●
10825. 179418776 c.89062A>C p.I29688L missense 0.00001657●●●●●●
10826. 179418773 c.89065C>T p.R29689C missense 0.00002486●●●●●●
10827. 179418772 c.89066G>A p.R29689H missense 0.00001657●●●●●●
10828. 179418763 c.89075G>A p.R29692K missense 0.00000829●●●●●●
10829. 179418759 c.89079A>T p.Q29693H missense 0.00001657●●●●●●
10830. 179418746 c.89092C>A p.L29698I missense 0.00000829●●●●●●
10831. 179418740 c.89098_89100delGAA p.Glu29700del inframe 0.00009948●●●●●●
10832. 179418739 c.89099A>T p.E29700V missense 0.00000829●●●●●●
10833. 179418727 c.89111A>G p.Y29704C missense 0.00000830●●●●●●
10834. 179418724 c.89114A>G p.Q29705R missense 0.00000830●●●●●●
10835. 179418689 c.89149G>C p.G29717R missense 0.00004245●●●●●●
10836. 179418674 c.89164C>A p.P29722T missense 0.00004337●●●●●●
10837. 179418673 c.89165C>A p.P29722Q missense 0.00000868●●●●●●
10838. 179418668 c.89170G>A p.E29724K missense 0.00000876●●●●●●
10839. 179418643 c.89195T>A p.I29732N missense 0.00003594●●●●●●
10840. 179418533 c.89199T>A p.D29733E missense 0.00000885●●●●●●
10841. 179418531 c.89201C>T p.P29734L missense 0.00000883●●●●●●
10842. 179418511 c.89221A>G p.I29741V missense 0.00000868●●●●●●
10843. 179418502 c.89230G>A p.A29744T missense 0.00001724●●●●●●
10844. 179418492 c.89240C>G p.T29747S missense 0.00051238●●●●●●
10845. 179418474 c.89258T>A p.L29753H missense 0.00002529●●●●●●
10846. 179418471 c.89261G>A p.G29754D missense 0.00001683●●●●●●
10847. 179418448 c.89284G>T p.G29762W missense 0.00000833●●●●●●
10848. 179418442 c.89290A>G p.S29764G missense 0.00000831●●●●●●
10849. 179418436 c.89296G>T p.V29766F missense 0.00000831●●●●●●
10850. 179418436 c.89296G>C p.V29766L missense 0.00000831●●●●●●
10851. 179418423 c.89309T>C p.V29770A missense 0.00000830●●●●●●
10852. 179418418 c.89314G>A p.E29772K missense 0.00026554●●●●●●
10853. 179418415 c.89317A>T p.I29773L missense 0.00308662●●●●●●
10854. 179418391 c.89341T>A p.W29781R missense 0.00001659●●●●●●
10855. 179418370 c.89362G>A p.G29788R missense 0.00000829●●●●●●
10856. 179418364 c.89368G>A p.V29790I missense 0.00003316●●●●●●
10857. 179418346 c.89386G>A p.V29796M missense 0.00131821●●●●●●
10858. 179418327 c.89405C>A p.P29802H missense 0.00001658●●●●●●
10859. 179418322 c.89410G>A p.V29804I missense 0.00001658●●●●●●
10860. 179418321 c.89411T>C p.V29804A missense 0.00001658●●●●●●
10861. 179418318 c.89414A>G p.N29805S missense 0.00002487●●●●●●
10862. 179418306 c.89426G>A p.R29809Q missense 0.00056369●●●●●●
10863. 179418304 c.89428G>A p.V29810I missense 0.00000829●●●●●●
10864. 179418266 c.89466A>G p.I29822M missense 0.00000837●●●●●●
10865. 179418261 c.89471T>G p.M29824R missense 0.00000840●●●●●●
10866. 179418259 c.89473A>T p.N29825Y missense 0.00000841●●●●●●
10867. 179418253 c.89479C>A p.P29827T missense 0.00027031●●●●●●
10868. 179418244 c.89488G>A p.A29830T missense 0.00000854●●●●●●
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10870. 179418232 c.89500C>A p.L29834I missense 0.00005180●●●●●●
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10874. 179418222 c.89503+7A>T splice site 0.00004355●●●●●●
10875. 179418126 c.89504-3C>T splice site 0.00000877●●●●●●
10876. 179418112 c.89515A>G p.I29839V missense 0.00002600●●●●●●
10877. 179418087 c.89540C>T p.T29847I missense 0.00001706●●●●●●
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10879. 179418072 c.89555A>G p.K29852R missense 0.00000845●●●●●●
10880. 179418052 c.89575G>C p.V29859L missense 0.00000836●●●●●●
10881. 179418037 c.89590A>G p.K29864E missense 0.00000832●●●●●●
10882. 179418019 c.89608A>G p.T29870A missense 0.00000829●●●●●●
10883. 179417999 c.89628T>G p.D29876E missense 0.00001657●●●●●●
10884. 179417988 c.89639T>G p.L29880R missense 0.00000828●●●●●●
10885. 179417982 c.89645G>A p.S29882N missense 0.00004141●●●●●●
10886. 179417974 c.89653A>G p.R29885G missense 0.00000828●●●●●●
10887. 179417955 c.89672C>G p.T29891S missense 0.00000828●●●●●●
10888. 179417938 c.89689C>T p.L29897F missense 0.00002486●●●●●●
10889. 179417919 c.89708C>G p.T29903S missense 0.00029833●●●●●●
10890. 179417919 c.89708C>T p.T29903I missense 0.00000829●●●●●●
10891. 179417916 c.89711G>A p.R29904H missense 0.00007459●●●●●●
10892. 179417913 c.89714A>G p.N29905S missense 0.00000829●●●●●●
10893. 179417911 c.89716G>A p.D29906N missense 0.00000829●●●●●●
10894. 179417907 c.89720C>T p.T29907I missense 0.00001658●●●●●●
10895. 179417902 c.89725A>G p.K29909E missense 0.00001659●●●●●●
10896. 179417892 c.89735T>C p.L29912P missense 0.00001660●●●●●●
10897. 179417874 c.89753T>C p.V29918A missense 0.00002493●●●●●●
10898. 179417867 c.89760A>C p.E29920D missense 0.00009979●●●●●●
10899. 179417854 c.89773A>T p.T29925S missense 0.00000832●●●●●●
10900. 179417845 c.89782G>A p.V29928I missense 0.00000833●●●●●●
10901. 179417839 c.89788G>A p.V29930M missense 0.00000833●●●●●●
10902. 179417830 c.89797A>C p.T29933P missense 0.00000833●●●●●●
10903. 179417817 c.89810G>A p.C29937Y missense 0.00000834●●●●●●
10904. 179417797 c.89830C>T p.H29944Y missense 0.00000833●●●●●●
10905. 179417787 c.89840G>A p.R29947Q missense 0.00003335●●●●●●
10906. 179417761 c.89866C>T p.P29956S missense 0.00001666●●●●●●
10907. 179417751 c.89876T>C p.I29959T missense 0.00000833●●●●●●
10908. 179417734 c.89893A>G p.I29965V missense 0.00002498●●●●●●
10909. 179417729 c.89898T>G p.I29966M missense 0.00000832●●●●●●
10910. 179417721 c.89906T>C p.V29969A missense 0.00002497●●●●●●
10911. 179417703 c.89924C>T p.A29975V missense 0.00009150●●●●●●
10912. 179417700 c.89927C>T p.T29976I missense 0.00001663●●●●●●
10913. 179417695 c.89932A>G p.R29978G missense 0.00000832●●●●●●
10914. 179417691 c.89936C>T p.T29979I missense 0.00004157●●●●●●
10915. 179417680 c.89947G>A p.V29983M missense 0.00009976●●●●●●
10916. 179417656 c.89971T>A p.S29991T missense 0.00000831●●●●●●
10917. 179417643 c.89984T>C p.I29995T missense 0.00000831●●●●●●
10918. 179417638 c.89989T>A p.L29997M missense 0.00150455●●●●●●
10919. 179417634 c.89993C>T p.S29998L missense 0.00005820●●●●●●
10920. 179417589 c.90038T>C p.I30013T missense 0.00000831●●●●●●
10921. 179417576 c.90051A>T p.E30017D missense 0.00000831●●●●●●
10922. 179417575 c.90052C>A p.P30018T missense 0.00000831●●●●●●
10923. 179417574 c.90053C>G p.P30018R missense 0.00000831●●●●●●
10924. 179417572 c.90055T>C p.C30019R missense 0.00000831●●●●●●
10925. 179417562 c.90065C>T p.T30022I missense 0.00000831●●●●●●
10926. 179417550 c.90077A>C p.K30026T missense 0.00000831●●●●●●
10927. 179417536 c.90091C>A p.P30031T missense 0.00000830●●●●●●
10928. 179417524 c.90103C>T p.R30035C missense 0.00001661●●●●●●
10929. 179417523 c.90104G>A p.R30035H missense 0.00001661●●●●●●
10930. 179417512 c.90115A>G p.M30039V missense 0.00000830●●●●●●
10931. 179417500 c.90127A>G p.T30043A missense 0.00000830●●●●●●
10932. 179417497 c.90130A>G p.K30044E missense 0.00000830●●●●●●
10933. 179417493 c.90134C>T p.T30045I missense 0.00002489●●●●●●
10934. 179417484 c.90143T>C p.I30048T missense 0.00000829●●●●●●
10935. 179417478 c.90149G>C p.S30050T missense 0.00000829●●●●●●
10936. 179417466 c.90161C>T p.P30054L missense 0.00000829●●●●●●
10937. 179417463 c.90164A>T p.D30055V missense 0.00000829●●●●●●
10938. 179417446 c.90181G>A p.V30061I missense 0.00004974●●●●●●
10939. 179417442 c.90185T>C p.I30062T missense 0.00000829●●●●●●
10940. 179417441 c.90186_90188delCAC p.Thr30063del inframe 0.00000829●●●●●●
10941. 179417439 c.90188C>T p.T30063I missense 0.00000829●●●●●●
10942. 179417418 c.90209A>G p.K30070R missense 0.00002486●●●●●●
10943. 179417415 c.90212G>A p.G30071D missense 0.00000829●●●●●●
10944. 179417400 c.90227C>T p.T30076M missense 0.00004973●●●●●●
10945. 179417389 c.90238G>A p.A30080T missense 0.00000829●●●●●●
10946. 179417383 c.90244A>G p.I30082V missense 0.00000829●●●●●●
10947. 179417377 c.90250A>G p.K30084E missense 0.00003316●●●●●●
10948. 179417376 c.90251A>C p.K30084T missense 0.00000829●●●●●●
10949. 179417372 c.90255_90256delAT p.Cys30086Ter frameshift 0.00000829●●●●●●
10950. 179417371 c.90256T>C p.C30086R missense 0.00002487●●●●●●
10951. 179417359 c.90268G>A p.V30090I missense 0.00001658●●●●●●
10952. 179417343 c.90284A>G p.E30095G missense 0.00000829●●●●●●
10953. 179417340 c.90287A>G p.Q30096R missense 0.00001659●●●●●●
10954. 179417340 c.90287A>C p.Q30096P missense 0.00000829●●●●●●
10955. 179417329 c.90298G>A p.E30100K missense 0.00000830●●●●●●
10956. 179417326 c.90301T>C p.F30101L missense 0.00000830●●●●●●
10957. 179417295 c.90332T>C p.L30111P missense 0.00004154●●●●●●
10958. 179417287 c.90340C>T p.P30114S missense 0.00000831●●●●●●
10959. 179417284 c.90343G>C p.V30115L missense 0.00000831●●●●●●
10960. 179417268 c.90359T>A p.I30120N missense 0.00004989●●●●●●
10961. 179417260 c.90367A>G p.K30123E missense 0.00000832●●●●●●
10962. 179417245 c.90382A>T p.T30128S missense 0.00011650●●●●●●
10963. 179417242 c.90385C>T p.P30129S missense 0.00000832●●●●●●
10964. 179417235 c.90392T>C p.V30131A missense 0.00000833●●●●●●
10965. 179417202 c.90425C>G p.T30142S missense 0.00000839●●●●●●
10966. 179417193 c.90434T>C p.I30145T missense 0.00000844●●●●●●
10967. 179417191 c.90436G>A p.G30146R missense 0.00000846●●●●●●
10968. 179417190 c.90437G>A p.G30146E missense 0.00000846●●●●●●
10969. 179417176 c.90451C>T p.L30151F missense 0.00000857●●●●●●
10970. 179417175 c.90452T>C p.L30151P missense 0.00000858●●●●●●
10971. 179417161 c.90466A>G p.K30156E missense 0.00000868●●●●●●
10972. 179417132 c.90495G>C p.W30165C missense 0.00000874●●●●●●
10973. 179417121 c.90506G>A p.G30169D missense 0.00006124●●●●●●
10974. 179417104 c.90523A>G p.S30175G missense 0.00003488●●●●●●
10975. 179417098 c.90529T>C p.F30177L missense 0.00002611●●●●●●
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10978. 179417091 c.90536G>A p.R30179H missense 0.00411362●●●●●●
10979. 179417082 c.90545A>G p.K30182R missense 0.00000865●●●●●●
10980. 179417076 c.90551A>T p.E30184V missense 0.00001723●●●●●●
10981. 179417056 c.90571A>G p.I30191V missense 0.00000853●●●●●●
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10983. 179417037 c.90590A>G p.E30197G missense 0.00004209●●●●●●
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10985. 179417031 c.90596G>A p.G30199E missense 0.00000839●●●●●●
10986. 179416999 c.90628G>A p.V30210M missense 0.00000833●●●●●●
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10989. 179416989 c.90638T>C p.I30213T missense 0.00193924●●●●●●
10990. 179416987 c.90640G>A p.A30214T missense 0.00000832●●●●●●
10991. 179416977 c.90650T>C p.I30217T missense 0.00000832●●●●●●
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10995. 179416936 c.90691C>T p.P30231S missense 0.00005820●●●●●●
10996. 179416932 c.90695T>C p.I30232T missense 0.00002494●●●●●●
10997. 179416929 c.90698G>A p.R30233Q missense 0.00005820●●●●●●
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10999. 179416903 c.90724G>T p.V30242F missense 0.00000830●●●●●●
11000. 179416898 c.90729C>G p.I30243M missense 0.00000830●●●●●●
11001. 179416887 c.90740A>G p.D30247G missense 0.00000830●●●●●●
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11003. 179416882 c.90745C>G p.P30249A missense 0.00000829●●●●●●
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11005. 179416878 c.90749A>C p.E30250A missense 0.00000829●●●●●●
11006. 179416876 c.90751G>C p.D30251H missense 0.00000829●●●●●●
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11020. 179416764 c.90863A>C p.N30288T missense 0.00004982●●●●●●
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11023. 179416732 c.90895G>T p.V30299L missense 0.00001661●●●●●●
11024. 179416732 c.90895G>C p.V30299L missense 0.00000831●●●●●●
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11027. 179416717 c.90910A>T p.R30304X nonsense 0.00000830●●●●●●
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11030. 179416705 c.90922A>C p.S30308R missense 0.00000830●●●●●●
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11032. 179416693 c.90934G>A p.V30312I missense 0.00000830●●●●●●
11033. 179416693 c.90934G>T p.V30312F missense 0.00000830●●●●●●
11034. 179416686 c.90941G>C p.S30314T missense 0.00000829●●●●●●
11035. 179416683 c.90944T>C p.I30315T missense 0.00000829●●●●●●
11036. 179416680 c.90947T>C p.I30316T missense 0.00000829●●●●●●
11037. 179416677 c.90950T>A p.V30317E missense 0.00000829●●●●●●
11038. 179416677 c.90950T>C p.V30317A missense 0.00002488●●●●●●
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11040. 179416659 c.90968G>A p.R30323K missense 0.01060021●●●●●●
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11042. 179416647 c.90980C>T p.P30327L missense 0.00000829●●●●●●
11043. 179416647 c.90980C>G p.P30327R missense 0.00002486●●●●●●
11044. 179416645 c.90982C>T p.P30328S missense 0.00000829●●●●●●
11045. 179416636 c.90991C>T p.P30331S missense 0.00006627●●●●●●
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11047. 179416609 c.91018G>T p.G30340C missense 0.00000828●●●●●●
11048. 179416585 c.91042C>T p.P30348S missense 0.00000828●●●●●●
11049. 179416570 c.91057G>C p.G30353R missense 0.00000828●●●●●●
11050. 179416561 c.91066G>A p.V30356I missense 0.00000828●●●●●●
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11052. 179416557 c.91070C>T p.T30357I missense 0.00000828●●●●●●
11053. 179416554 c.91073G>A p.G30358E missense 0.00000828●●●●●●
11054. 179416543 c.91084G>A p.E30362K missense 0.00000829●●●●●●
11055. 179416543 c.91084G>C p.E30362Q missense 0.00001657●●●●●●
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11058. 179416503 c.91124A>T p.N30375I missense 0.00000829●●●●●●
11059. 179416492 c.91135A>G p.I30379V missense 0.00000829●●●●●●
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11062. 179416473 c.91154G>C p.R30385T missense 0.00000829●●●●●●
11063. 179416467 c.91160C>T p.T30387I missense 0.00001658●●●●●●
11064. 179416461 c.91166T>C p.L30389P missense 0.00000829●●●●●●
11065. 179416458 c.91169T>A p.V30390E missense 0.00000829●●●●●●
11066. 179416456 c.91171G>C p.E30391Q missense 0.00001659●●●●●●
11067. 179416454 c.91173A>C p.E30391D missense 0.00035667●●●●●●
11068. 179416435 c.91192C>T p.R30398C missense 0.00000831●●●●●●
11069. 179416434 c.91193G>A p.R30398H missense 0.00001663●●●●●●
11070. 179416429 c.91198T>A p.Y30400N missense 0.00000832●●●●●●
11071. 179416428 c.91199A>G p.Y30400C missense 0.00001665●●●●●●
11072. 179416428 c.91199A>T p.Y30400F missense 0.00006660●●●●●●
11073. 179416426 c.91201G>A p.A30401T missense 0.00000833●●●●●●
11074. 179416418 c.91209T>G p.N30403K missense 0.00000836●●●●●●
11075. 179416414 c.91213G>C p.A30405P missense 0.00000839●●●●●●
11076. 179416413 c.91214C>T p.A30405V missense 0.00000840●●●●●●
11077. 179416407 c.91220T>C p.L30407P missense 0.00000845●●●●●●
11078. 179416387 c.91240A>T p.S30414C missense 0.00000870●●●●●●
11079. 179416368 c.91259T>C p.V30420A missense 0.00000910●●●●●●
11080. 179416368 c.91259T>A p.V30420D missense 0.00000910●●●●●●
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11082. 179415981 c.91277C>T p.P30426L missense 0.00001664●●●●●●
11083. 179415952 c.91306C>T p.R30436W missense 0.00001660●●●●●●
11084. 179415951 c.91307G>A p.R30436Q missense 0.00001660●●●●●●
11085. 179415942 c.91316T>G p.I30439S missense 0.00000830●●●●●●
11086. 179415941 c.91317C>G p.I30439M missense 0.00000830●●●●●●
11087. 179415933 c.91325A>C p.K30442T missense 0.00000830●●●●●●
11088. 179415924 c.91334C>A p.P30445Q missense 0.00000830●●●●●●
11089. 179415916 c.91342C>T p.R30448C missense 0.00004152●●●●●●
11090. 179415915 c.91343G>A p.R30448H missense 0.00007474●●●●●●
11091. 179415910 c.91348G>A p.G30450R missense 0.00000831●●●●●●
11092. 179415906 c.91352G>A p.G30451D missense 0.00002492●●●●●●
11093. 179415895 c.91363G>A p.V30455M missense 0.00000832●●●●●●
11094. 179415892 c.91366G>A p.G30456S missense 0.00000832●●●●●●
11095. 179415885 c.91373G>A p.S30458N missense 0.00007493●●●●●●
11096. 179415884 c.91374C>A p.S30458R missense 0.00001665●●●●●●
11097. 179415874 c.91384C>T p.R30462W missense 0.00007505●●●●●●
11098. 179415859 c.91399C>T p.R30467C missense 0.00002507●●●●●●
11099. 179415858 c.91400G>A p.R30467H missense 0.00001672●●●●●●
11100. 179415849 c.91409G>T p.R30470I missense 0.00000837●●●●●●
11101. 179415849 c.91409G>C p.R30470T missense 0.00000837●●●●●●
11102. 179415832 c.91426G>A p.V30476I missense 0.00005872●●●●●●
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11104. 179415805 c.91453G>C p.G30485R missense 0.00000842●●●●●●
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11110. 179415783 c.91475A>G p.Y30492C missense 0.00001689●●●●●●
11111. 179415766 c.91492G>T p.A30498S missense 0.00000846●●●●●●
11112. 179415754 c.91504G>A p.V30502I missense 0.00000846●●●●●●
11113. 179415738 c.91520C>T p.P30507L missense 0.00002547●●●●●●
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11118. 179415694 c.91564G>A p.V30522I missense 0.00000909●●●●●●
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11122. 179415001 c.91565-1G>C essential splice site 0.00000856●●●●●●
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11126. 179414991 c.91574T>C p.I30525T missense 0.00000844●●●●●●
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11130. 179414961 c.91604G>A p.G30535D missense 0.00000832●●●●●●
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11142. 179414863 c.91702G>A p.E30568K missense 0.00005797●●●●●●
11143. 179414854 c.91711A>G p.M30571V missense 0.00000828●●●●●●
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11146. 179414833 c.91732G>A p.V30578I missense 0.00007454●●●●●●
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11149. 179414800 c.91765G>A p.A30589T missense 0.00426699●●●●●●
11150. 179414794 c.91771C>T p.R30591W missense 0.00004143●●●●●●
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11152. 179414791 c.91774G>A p.D30592N missense 0.00013261●●●●●●
11153. 179414784 c.91781G>A p.R30594H missense 0.00001659●●●●●●
11154. 179414734 c.91831G>A p.E30611K missense 0.00000840●●●●●●
11155. 179414731 c.91834A>G p.I30612V missense 0.00000843●●●●●●
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11157. 179414715 c.91850A>G p.Q30617R missense 0.00000871●●●●●●
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11159. 179414705 c.91852+8T>A splice site 0.02756241●●●●●●
11160. 179414599 c.91853-3T>C splice site 0.00002679●●●●●●
11161. 179414595 c.91854T>C splice site 0.00000891●●●●●●
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11164. 179414566 c.91883G>A p.R30628K missense 0.00000866●●●●●●
11165. 179414565 c.91884A>T p.R30628S missense 0.00155494●●●●●●
11166. 179414563 c.91886T>C p.F30629S missense 0.00001725●●●●●●
11167. 179414557 c.91892A>G p.N30631S missense 0.00004296●●●●●●
11168. 179414551 c.91898C>G p.T30633S missense 0.00000855●●●●●●
11169. 179414548 c.91901G>A p.G30634E missense 0.00000852●●●●●●
11170. 179414540 c.91909A>G p.M30637V missense 0.00000846●●●●●●
11171. 179414534 c.91915C>G p.L30639V missense 0.00000842●●●●●●
11172. 179414521 c.91928C>T p.A30643V missense 0.00003341●●●●●●
11173. 179414512 c.91937A>G p.N30646S missense 0.00065780●●●●●●
11174. 179414507 c.91942G>A p.G30648S missense 0.00005822●●●●●●
11175. 179414504 c.91945T>C p.C30649R missense 0.00001662●●●●●●
11176. 179414489 c.91960C>A p.H30654N missense 0.00001659●●●●●●
11177. 179414482 c.91967T>A p.I30656N missense 0.00000829●●●●●●
11178. 179414471 c.91978C>T p.R30660W missense 0.00002489●●●●●●
11179. 179414470 c.91979G>A p.R30660Q missense 0.00001659●●●●●●
11180. 179414440 c.92009T>C p.I30670T missense 0.00032343●●●●●●
11181. 179414429 c.92020T>C p.C30674R missense 0.00000829●●●●●●
11182. 179414427 c.92022T>G p.C30674W missense 0.00000829●●●●●●
11183. 179414425 c.92024A>C p.E30675A missense 0.00000829●●●●●●
11184. 179414407 c.92042C>A p.A30681D missense 0.00012437●●●●●●
11185. 179414407 c.92042C>T p.A30681V missense 0.00000829●●●●●●
11186. 179414390 c.92059G>A p.G30687S missense 0.00001658●●●●●●
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11188. 179414386 c.92063A>G p.N30688S missense 0.00000829●●●●●●
11189. 179414378 c.92071C>G p.Q30691E missense 0.00001658●●●●●●
11190. 179414377 c.92072A>G p.Q30691R missense 0.00000829●●●●●●
11191. 179414372 c.92077C>T p.R30693C missense 0.00001658●●●●●●
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11193. 179414366 c.92083T>C p.S30695P missense 0.00000829●●●●●●
11194. 179414350 c.92099T>C p.F30700S missense 0.00000829●●●●●●
11195. 179414332 c.92117T>G p.L30706R missense 0.00000830●●●●●●
11196. 179414330 c.92119G>A p.D30707N missense 0.00000830●●●●●●
11197. 179414329 c.92120A>C p.D30707A missense 0.00000830●●●●●●
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11199. 179414323 c.92126A>C p.D30709A missense 0.00000831●●●●●●
11200. 179414318 c.92131G>A p.V30711M missense 0.09056139●●●●●●
11201. 179414318 c.92131G>C p.V30711L missense 0.00000831●●●●●●
11202. 179414312 c.92137G>C p.A30713P missense 0.00000835●●●●●●
11203. 179414304 c.92145A>G p.I30715M missense 0.00001677●●●●●●
11204. 179414303 c.92146_92147delCA p.Gln30716IlefsTer5 frameshift 0.00000840●●●●●●
11205. 179414300 c.92149T>C p.Y30717H missense 0.00000841●●●●●●
11206. 179414299 c.92150A>G p.Y30717C missense 0.00000841●●●●●●
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11208. 179414290 c.92152+7T>G splice site 0.00003382●●●●●●
11209. 179414186 c.92167C>T p.P30723S missense 0.00004229●●●●●●
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11211. 179414183 c.92170G>A p.G30724S missense 0.00000846●●●●●●
11212. 179414177 c.92176C>T p.P30726S missense 0.00248375●●●●●●
11213. 179414177 c.92176C>G p.P30726A missense 0.00004210●●●●●●
11214. 179414162 c.92191A>G p.I30731V missense 0.03133832●●●●●●
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11216. 179414131 c.92222C>T p.A30741V missense 0.00001660●●●●●●
11217. 179414125 c.92228C>G p.P30743R missense 0.00000830●●●●●●
11218. 179414114 c.92239G>T p.G30747C missense 0.00000829●●●●●●
11219. 179414093 c.92260T>C p.Y30754H missense 0.00000829●●●●●●
11220. 179414077 c.92276G>A p.R30759K missense 0.00000829●●●●●●
11221. 179414069 c.92284A>C p.K30762Q missense 0.00000829●●●●●●
11222. 179414062 c.92291C>A p.T30764K missense 0.00000829●●●●●●
11223. 179414059 c.92294G>C p.R30765T missense 0.00015744●●●●●●
11224. 179414059 c.92294G>A p.R30765K missense 0.00000829●●●●●●
11225. 179414057 c.92296T>C p.W30766R missense 0.00002486●●●●●●
11226. 179414035 c.92318G>A p.R30773Q missense 0.00001657●●●●●●
11227. 179414020 c.92333C>G p.T30778R missense 0.00004972●●●●●●
11228. 179413991 c.92362G>A p.G30788S missense 0.00062192●●●●●●
11229. 179413990 c.92363G>A p.G30788D missense 0.00000829●●●●●●
11230. 179413987 c.92366A>G p.N30789S missense 0.00001659●●●●●●
11231. 179413979 c.92374G>A p.E30792K missense 0.00000830●●●●●●
11232. 179413972 c.92381A>G p.H30794R missense 0.00000830●●●●●●
11233. 179413970 c.92383G>A p.V30795I missense 0.00000830●●●●●●
11234. 179413967 c.92386A>G p.M30796V missense 0.00000830●●●●●●
11235. 179413951 c.92402C>T p.A30801V missense 0.00003322●●●●●●
11236. 179413932 c.92421T>G p.S30807R missense 0.00000831●●●●●●
11237. 179413919 c.92434C>T p.L30812F missense 0.00000831●●●●●●
11238. 179413915 c.92438T>C p.I30813T missense 0.00000831●●●●●●
11239. 179413904 c.92449G>C p.E30817Q missense 0.00003324●●●●●●
11240. 179413902 c.92451G>T p.E30817D missense 0.00003324●●●●●●
11241. 179413898 c.92455G>A p.V30819I missense 0.00000831●●●●●●
11242. 179413894 c.92459A>G p.N30820S missense 0.00000831●●●●●●
11243. 179413886 c.92467G>A p.G30823S missense 0.00006643●●●●●●
11244. 179413883 c.92470C>T p.P30824S missense 0.00000830●●●●●●
11245. 179413871 c.92482G>A p.V30828I missense 0.00000830●●●●●●
11246. 179413866 c.92487A>T p.K30829N missense 0.00000830●●●●●●
11247. 179413865 c.92488G>A p.V30830I missense 0.00002490●●●●●●
11248. 179413847 c.92506A>C p.T30836P missense 0.00014932●●●●●●
11249. 179413833 c.92520A>T p.L30840F missense 0.00001659●●●●●●
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11252. 179413819 c.92534C>T p.P30845L missense 0.00000829●●●●●●
11253. 179413816 c.92537T>C p.V30846A missense 0.00083752●●●●●●
11254. 179413810 c.92543A>C p.D30848A missense 0.00001658●●●●●●
11255. 179413799 c.92554G>A p.E30852K missense 0.00001658●●●●●●
11256. 179413792 c.92561T>C p.I30854T missense 0.00002487●●●●●●
11257. 179413789 c.92564G>T p.G30855V missense 0.00003316●●●●●●
11258. 179413763 c.92590G>A p.D30864N missense 0.00013263●●●●●●
11259. 179413741 c.92612T>C p.V30871A missense 0.00004972●●●●●●
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11261. 179413687 c.92666G>A p.G30889D missense 0.00001657●●●●●●
11262. 179413676 c.92677A>G p.K30893E missense 0.00004971●●●●●●
11263. 179413669 c.92684G>A p.R30895Q missense 0.00009944●●●●●●
11264. 179413657 c.92696T>C p.I30899T missense 0.00017403●●●●●●
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11266. 179413643 c.92710A>G p.K30904E missense 0.00004144●●●●●●
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11270. 179413603 c.92750T>C p.V30917A missense 0.00002488●●●●●●
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11274. 179413589 c.92764G>A p.A30922T missense 0.00000829●●●●●●
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11278. 179413573 c.92780T>A p.I30927K missense 0.00083758●●●●●●
11279. 179413571 c.92782G>C p.D30928H missense 0.00011612●●●●●●
11280. 179413552 c.92801C>T p.T30934I missense 0.00000829●●●●●●
11281. 179413547 c.92806G>A p.V30936I missense 0.00008294●●●●●●
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11285. 179413531 c.92822C>A p.A30941D missense 0.00000829●●●●●●
11286. 179413522 c.92831G>A p.R30944H missense 0.00006634●●●●●●
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11289. 179413474 c.92879G>A p.S30960N missense 0.00000829●●●●●●
11290. 179413471 c.92882A>G p.K30961R missense 0.00000829●●●●●●
11291. 179413463 c.92890T>G p.S30964A missense 0.00005800●●●●●●
11292. 179413448 c.92905C>T p.R30969W missense 0.00000829●●●●●●
11293. 179413447 c.92906G>A p.R30969Q missense 0.00000829●●●●●●
11294. 179413445 c.92908G>A p.A30970T missense 0.00001657●●●●●●
11295. 179413438 c.92915T>G p.I30972S missense 0.00001657●●●●●●
11296. 179413429 c.92924C>A p.T30975K missense 0.00000829●●●●●●
11297. 179413427 c.92926G>A p.D30976N missense 0.00000828●●●●●●
11298. 179413403 c.92950G>A p.E30984K missense 0.00001656●●●●●●
11299. 179413402 c.92951A>G p.E30984G missense 0.00002485●●●●●●
11300. 179413399 c.92954A>C p.N30985T missense 0.00002485●●●●●●
11301. 179413387 c.92966A>T p.N30989I missense 0.00000828●●●●●●
11302. 179413387 c.92966A>G p.N30989S missense 0.00000828●●●●●●
11303. 179413385 c.92968G>A p.D30990N missense 0.00000828●●●●●●
11304. 179413383 c.92970T>G p.D30990E missense 0.00000828●●●●●●
11305. 179413366 c.92987T>C p.L30996P missense 0.00001656●●●●●●
11306. 179413361 c.92992G>A p.V30998M missense 0.00001656●●●●●●
11307. 179413349 c.93004A>C p.S31002R missense 0.00000828●●●●●●
11308. 179413348 c.93005G>T p.S31002I missense 0.00090281●●●●●●
11309. 179413346 c.93007G>A p.G31003S missense 0.00000828●●●●●●
11310. 179413342 c.93011G>A p.S31004N missense 0.00003313●●●●●●
11311. 179413324 c.93029C>T p.T31010I missense 0.00000829●●●●●●
11312. 179413322 c.93031G>A p.V31011M missense 0.00003315●●●●●●
11313. 179413315 c.93038T>C p.V31013A missense 0.00000829●●●●●●
11314. 179413297 c.93056C>A p.P31019Q missense 0.00001659●●●●●●
11315. 179413277 c.93076A>G p.K31026E missense 0.00000830●●●●●●
11316. 179413264 c.93089G>A p.R31030Q missense 0.00003320●●●●●●
11317. 179413261 c.93092G>A p.G31031E missense 0.00001660●●●●●●
11318. 179413246 c.93107T>C p.M31036T missense 0.00002489●●●●●●
11319. 179413223 c.93130G>A p.G31044S missense 0.00005807●●●●●●
11320. 179413222 c.93131G>T p.G31044V missense 0.00011612●●●●●●
11321. 179413222 c.93131G>A p.G31044D missense 0.00002488●●●●●●
11322. 179413213 c.93140G>A p.R31047Q missense 0.00003318●●●●●●
11323. 179413199 c.93154G>A p.V31052M missense 0.00001658●●●●●●
11324. 179413186 c.93167G>A p.R31056Q missense 0.00002487●●●●●●
11325. 179413177 c.93176G>C p.S31059T missense 0.00000829●●●●●●
11326. 179413176 c.93177T>A p.S31059R missense 0.00000829●●●●●●
11327. 179413175 c.93178C>T p.R31060C missense 0.00003315●●●●●●
11328. 179413174 c.93179G>A p.R31060H missense 0.00003315●●●●●●
11329. 179413172 c.93181C>T p.R31061C missense 0.00000829●●●●●●
11330. 179413171 c.93182G>A p.R31061H missense 0.00002487●●●●●●
11331. 179413139 c.93214C>T p.R31072C missense 0.00006631●●●●●●
11332. 179413138 c.93215G>A p.R31072H missense 0.00012431●●●●●●
11333. 179413127 c.93226A>C p.K31076Q missense 0.00001657●●●●●●
11334. 179413112 c.93241G>C p.A31081P missense 0.00000829●●●●●●
11335. 179413109 c.93244G>A p.E31082K missense 0.00007460●●●●●●
11336. 179413099 c.93254C>T p.P31085L missense 0.00014091●●●●●●
11337. 179413088 c.93265C>T p.R31089C missense 0.00001658●●●●●●
11338. 179413087 c.93266G>A p.R31089H missense 0.00004145●●●●●●
11339. 179413061 c.93292G>A p.V31098I missense 0.00002486●●●●●●
11340. 179413048 c.93305A>G p.Y31102C missense 0.00004144●●●●●●
11341. 179413041 c.93312G>C p.M31104I missense 0.00000829●●●●●●
11342. 179413030 c.93323T>C p.I31108T missense 0.00004972●●●●●●
11343. 179413027 c.93326T>C p.V31109A missense 0.00000829●●●●●●
11344. 179413019 c.93334G>A p.E31112K missense 0.00000829●●●●●●
11345. 179413000 c.93353G>A p.R31118K missense 0.00000829●●●●●●
11346. 179412986 c.93367G>C p.V31123L missense 0.00011601●●●●●●
11347. 179412982 c.93371A>T p.D31124V missense 0.00008286●●●●●●
11348. 179412965 c.93388G>A p.A31130T missense 0.00001657●●●●●●
11349. 179412935 c.93418G>A p.D31140N missense 0.00000828●●●●●●
11350. 179412925 c.93428G>A p.S31143N missense 0.00000828●●●●●●
11351. 179412923 c.93430C>G p.R31144G missense 0.00001656●●●●●●
11352. 179412922 c.93431G>A p.R31144Q missense 0.00001656●●●●●●
11353. 179412911 c.93442T>C p.Y31148H missense 0.00004141●●●●●●
11354. 179412878 c.93475T>C p.F31159L missense 0.00000828●●●●●●
11355. 179412858 c.93495C>A p.H31165Q missense 0.00000828●●●●●●
11356. 179412856 c.93497C>A p.T31166N missense 0.00000828●●●●●●
11357. 179412841 c.93512T>G p.F31171C missense 0.00000828●●●●●●
11358. 179412830 c.93523C>A p.R31175S missense 0.00000828●●●●●●
11359. 179412830 c.93523C>T p.R31175C missense 0.00001656●●●●●●
11360. 179412829 c.93524G>A p.R31175H missense 0.00050515●●●●●●
11361. 179412826 c.93527T>C p.L31176P missense 0.00001656●●●●●●
11362. 179412824 c.93529G>A p.V31177I missense 0.00000828●●●●●●
11363. 179412816 c.93537A>C p.K31179N missense 0.00000828●●●●●●
11364. 179412800 c.93553C>T p.R31185C missense 0.00001657●●●●●●
11365. 179412799 c.93554G>A p.R31185H missense 0.00003314●●●●●●
11366. 179412783 c.93570T>A p.N31190K missense 0.00004143●●●●●●
11367. 179412779 c.93574G>A p.A31192T missense 0.00000829●●●●●●
11368. 179412775 c.93578G>T p.G31193V missense 0.00000829●●●●●●
11369. 179412772 c.93581A>G p.Y31194C missense 0.00004145●●●●●●
11370. 179412761 c.93592A>G p.R31198G missense 0.00001659●●●●●●
11371. 179412743 c.93610G>A p.V31204I missense 0.00000831●●●●●●
11372. 179412731 c.93622G>A p.E31208K missense 0.00000831●●●●●●
11373. 179412715 c.93638C>T p.P31213L missense 0.00000832●●●●●●
11374. 179412689 c.93664A>C p.N31222H missense 0.00000831●●●●●●
11375. 179412680 c.93673A>G p.I31225V missense 0.00001661●●●●●●
11376. 179412679 c.93674T>C p.I31225T missense 0.00000830●●●●●●
11377. 179412670 c.93683A>G p.K31228R missense 0.00000830●●●●●●
11378. 179412650 c.93703A>T p.I31235F missense 0.00000830●●●●●●
11379. 179412644 c.93709G>A p.V31237I missense 0.00004979●●●●●●
11380. 179412644 c.93709G>C p.V31237L missense 0.00000830●●●●●●
11381. 179412641 c.93712C>G p.P31238A missense 0.00000830●●●●●●
11382. 179412635 c.93718A>G p.S31240G missense 0.00000830●●●●●●
11383. 179412629 c.93724C>T p.R31242C missense 0.00004979●●●●●●
11384. 179412628 c.93725G>A p.R31242H missense 0.00010787●●●●●●
11385. 179412626 c.93727C>T p.P31243S missense 0.00000830●●●●●●
11386. 179412623 c.93730G>A p.A31244T missense 0.00000830●●●●●●
11387. 179412622 c.93731C>T p.A31244V missense 0.00001659●●●●●●
11388. 179412619 c.93734C>T p.P31245L missense 0.00003319●●●●●●
11389. 179412616 c.93737A>G p.K31246R missense 0.00000830●●●●●●
11390. 179412596 c.93757G>A p.E31253K missense 0.00000830●●●●●●
11391. 179412593 c.93760A>G p.M31254V missense 0.00000830●●●●●●
11392. 179412589 c.93764G>A p.R31255K missense 0.00000830●●●●●●
11393. 179412571 c.93782G>A p.R31261Q missense 0.00000830●●●●●●
11394. 179412562 c.93791T>C p.I31264T missense 0.00000830●●●●●●
11395. 179412560 c.93793A>G p.T31265A missense 0.00000830●●●●●●
11396. 179412551 c.93802_93803insCAA p.Thr31267dup inframe 0.00000829●●●●●●
11397. 179412550 c.93803A>C p.K31268T missense 0.00071330●●●●●●
11398. 179412547 c.93806A>T p.D31269V missense 0.00000830●●●●●●
11399. 179412544 c.93809_93810delGA p.Arg31270AsnfsTer12 frameshift 0.00000829●●●●●●
11400. 179412538 c.93815C>T p.T31272I missense 0.00006635●●●●●●
11401. 179412516 c.93837G>T p.M31279I missense 0.00000829●●●●●●
11402. 179412505 c.93848_93849delCT p.Ser31283TrpfsTer14 frameshift 0.00000829●●●●●●
11403. 179412503 c.93850G>C p.G31284R missense 0.00000829●●●●●●
11404. 179412493 c.93860T>C p.F31287S missense 0.00002486●●●●●●
11405. 179412487 c.93866C>A p.T31289N missense 0.00000829●●●●●●
11406. 179412479 c.93874A>G p.N31292D missense 0.00006632●●●●●●
11407. 179412452 c.93901G>A p.V31301I missense 0.01059122●●●●●●
11408. 179412440 c.93913G>A p.V31305I missense 0.00000829●●●●●●
11409. 179412436 c.93917T>C p.I31306T missense 0.00003315●●●●●●
11410. 179412434 c.93919G>A p.G31307R missense 0.00002486●●●●●●
11411. 179412419 c.93934G>C p.V31312L missense 0.00001657●●●●●●
11412. 179412418 c.93935T>G p.V31312G missense 0.00002486●●●●●●
11413. 179412413 c.93940G>A p.G31314S missense 0.00000829●●●●●●
11414. 179412406 c.93947T>C p.I31316T missense 0.00002486●●●●●●
11415. 179412385 c.93968C>T p.A31323V missense 0.00005799●●●●●●
11416. 179412379 c.93974C>T p.S31325L missense 0.00001657●●●●●●
11417. 179412370 c.93983T>G p.L31328R missense 0.00000828●●●●●●
11418. 179412362 c.93991G>A p.G31331R missense 0.00022367●●●●●●
11419. 179412358 c.93995A>T p.E31332V missense 0.00000828●●●●●●
11420. 179412337 c.94016C>T p.T31339I missense 0.00043094●●●●●●
11421. 179412322 c.94031A>C p.Y31344S missense 0.00000829●●●●●●
11422. 179412311 c.94042A>C p.K31348Q missense 0.00001659●●●●●●
11423. 179412310 c.94043A>T p.K31348M missense 0.00008297●●●●●●
11424. 179412308 c.94045C>T p.R31349C missense 0.00014108●●●●●●
11425. 179412308 c.94045C>G p.R31349G missense 0.00000830●●●●●●
11426. 179412307 c.94046G>A p.R31349H missense 0.00179268●●●●●●
11427. 179412298 c.94055G>C p.G31352A missense 0.00000831●●●●●●
11428. 179412290 c.94063G>A p.A31355T missense 0.00000831●●●●●●
11429. 179412289 c.94064C>T p.A31355V missense 0.00001662●●●●●●
11430. 179412278 c.94075G>A p.V31359I missense 0.00001665●●●●●●
11431. 179412262 c.94091A>G p.K31364R missense 0.00000835●●●●●●
11432. 179412261 c.94092G>T p.K31364N missense 0.00000836●●●●●●
11433. 179412260 c.94093C>T p.R31365C missense 0.00003347●●●●●●
11434. 179412259 c.94094G>A p.R31365H missense 0.00000838●●●●●●
11435. 179412250 c.94103_94107delTTAAA p.Thr31366fs frameshift 0.00000848●●●●●●
11436. 179412215 c.94138T>G p.S31380A missense 0.00000903●●●●●●
11437. 179412209 c.94144C>T p.R31382C missense 0.00000920●●●●●●
11438. 179412208 c.94145G>A p.R31382H missense 0.00011994●●●●●●
11439. 179412203 c.94150A>G p.S31384G missense 0.00000930●●●●●●
11440. 179412196 c.94157A>C p.E31386A missense 0.00000940●●●●●●
11441. 179412187 c.94166T>A p.F31389Y missense 0.00000951●●●●●●
11442. 179412186 c.94167delT p.F31389Lfs*7 frameshift 0.00000957●●●●●●
11443. 179412166 c.94187A>C p.E31396A missense 0.00001963●●●●●●
11444. 179412161 c.94192G>A p.A31398T missense 0.00000991●●●●●●
11445. 179412146 c.94207G>A p.E31403K missense 0.00002023●●●●●●
11446. 179412040 c.94220-8A>G splice site 0.00000861●●●●●●
11447. 179412022 c.94230C>G p.S31410R missense 0.00000847●●●●●●
11448. 179412021 c.94231G>A p.A31411T missense 0.00005079●●●●●●
11449. 179412018 c.94234C>T p.P31412S missense 0.00000844●●●●●●
11450. 179412012 c.94240A>G p.R31414G missense 0.00001680●●●●●●
11451. 179412008 c.94244C>T p.P31415L missense 0.00000838●●●●●●
11452. 179411988 c.94264G>C p.A31422P missense 0.00000832●●●●●●
11453. 179411985 c.94267A>C p.N31423H missense 0.00000831●●●●●●
11454. 179411978 c.94274T>C p.M31425T missense 0.00000830●●●●●●
11455. 179411975 c.94277C>T p.S31426F missense 0.00001659●●●●●●
11456. 179411973 c.94279A>C p.I31427L missense 0.00000829●●●●●●
11457. 179411970 c.94282C>G p.R31428G missense 0.00006635●●●●●●
11458. 179411970 c.94282C>A p.R31428S missense 0.00003317●●●●●●
11459. 179411970 c.94282C>T p.R31428C missense 0.00002488●●●●●●
11460. 179411969 c.94283G>A p.R31428H missense 0.00028196●●●●●●
11461. 179411957 c.94295C>T p.P31432L missense 0.00000829●●●●●●
11462. 179411952 c.94300C>T p.H31434Y missense 0.00000829●●●●●●
11463. 179411949 c.94303G>A p.D31435N missense 0.00006627●●●●●●
11464. 179411945 c.94307G>A p.G31436D missense 0.00001657●●●●●●
11465. 179411939 c.94313G>A p.S31438N missense 0.00000828●●●●●●
11466. 179411922 c.94330T>C p.W31444R missense 0.00008282●●●●●●
11467. 179411907 c.94345G>C p.E31449Q missense 0.00000828●●●●●●
11468. 179411904 c.94348C>T p.R31450C missense 0.00043063●●●●●●
11469. 179411903 c.94349G>A p.R31450H missense 0.00000828●●●●●●
11470. 179411895 c.94357A>T p.I31453F missense 0.00000828●●●●●●
11471. 179411892 c.94360C>T p.L31454F missense 0.00000828●●●●●●
11472. 179411879 c.94373A>G p.E31458G missense 0.00000828●●●●●●
11473. 179411864 c.94388G>A p.C31463Y missense 0.00000828●●●●●●
11474. 179411859 c.94393G>A p.E31465K missense 0.00000828●●●●●●
11475. 179411840 c.94412C>T p.T31471I missense 0.00001656●●●●●●
11476. 179411787 c.94465G>T p.A31489S missense 0.00000829●●●●●●
11477. 179411772 c.94480G>A p.A31494T missense 0.00001659●●●●●●
11478. 179411771 c.94481C>A p.A31494D missense 0.00000830●●●●●●
11479. 179411766 c.94486G>A p.E31496K missense 0.00002494●●●●●●
11480. 179411753 c.94499C>G p.P31500R missense 0.00000837●●●●●●
11481. 179411751 c.94501A>G p.I31501V missense 0.00000838●●●●●●
11482. 179411750 c.94502T>C p.I31501T missense 0.00002516●●●●●●
11483. 179411745 c.94507G>A p.A31503T missense 0.00010111●●●●●●
11484. 179411741 c.94511A>C p.Q31504P missense 0.00000845●●●●●●
11485. 179411738 c.94514A>C p.N31505T missense 0.00002543●●●●●●
11486. 179411732 c.94520T>C p.V31507A missense 0.00000853●●●●●●
11487. 179411725 c.94522+5G>A splice site 0.00001725●●●●●●
11488. 179411638 c.94523-6T>C splice site 0.00000897●●●●●●
11489. 179411631 c.94524T>G p.D31508E missense 0.00000892●●●●●●
11490. 179411631 c.94524T>C splice site 0.00001785●●●●●●
11491. 179411613 c.94542G>C p.E31514D missense 0.00000884●●●●●●
11492. 179411606 c.94549G>A p.D31517N missense 0.00000881●●●●●●
11493. 179411602 c.94553T>C p.V31518A missense 0.00007892●●●●●●
11494. 179411579 c.94576A>G p.I31526V missense 0.00002590●●●●●●
11495. 179411575 c.94580G>T p.W31527L missense 0.00000861●●●●●●
11496. 179411564 c.94591G>A p.A31531T missense 0.00005122●●●●●●
11497. 179411551 c.94604G>T p.G31535V missense 0.00001684●●●●●●
11498. 179411528 c.94627A>G p.I31543V missense 0.00000832●●●●●●
11499. 179411527 c.94628T>C p.I31543T missense 0.00000832●●●●●●
11500. 179411526 c.94629A>G p.I31543M missense 0.00006657●●●●●●
11501. 179411522 c.94633C>T p.R31545C missense 0.00017468●●●●●●
11502. 179411519 c.94636A>C p.K31546Q missense 0.00001662●●●●●●
11503. 179411503 c.94652T>C p.V31551A missense 0.00000830●●●●●●
11504. 179411503 c.94652T>A p.V31551E missense 0.00004151●●●●●●
11505. 179411492 c.94663C>G p.R31555G missense 0.00001660●●●●●●
11506. 179411492 c.94663C>T p.R31555C missense 0.00000830●●●●●●
11507. 179411491 c.94664G>A p.R31555H missense 0.00004150●●●●●●
11508. 179411457 c.94698C>A p.D31566E missense 0.00001660●●●●●●
11509. 179411435 c.94720C>T p.L31574F missense 0.00000830●●●●●●
11510. 179411407 c.94748G>A p.R31583H missense 0.00002494●●●●●●
11511. 179411381 c.94774G>A p.V31592I missense 0.00001668●●●●●●
11512. 179411373 c.94782C>G p.S31594R missense 0.00000835●●●●●●
11513. 179411360 c.94795T>A p.S31599T missense 0.00000839●●●●●●
11514. 179411354 c.94801G>A p.G31601S missense 0.00000842●●●●●●
11515. 179411338 c.94817G>A p.R31606Q missense 0.00002567●●●●●●
11516. 179411329 c.94826A>G p.Y31609C missense 0.00001731●●●●●●
11517. 179411328 c.94827C>T splice site 0.00000868●●●●●●
11518. 179411327 c.94828G>A p.A31610T missense 0.00006969●●●●●●
11519. 179411232 c.94829-3C>T splice site 0.00000864●●●●●●
11520. 179411215 c.94843G>A p.E31615K missense 0.00004248●●●●●●
11521. 179411209 c.94849G>A p.D31617N missense 0.00002536●●●●●●
11522. 179411207 c.94851T>A p.D31617E missense 0.00291282●●●●●●
11523. 179411202 c.94856G>A p.R31619Q missense 0.00000842●●●●●●
11524. 179411199 c.94859T>G p.Leu31620Ter nonsense 0.00000840●●●●●●
11525. 179411181 c.94877C>A p.T31626N missense 0.00000835●●●●●●
11526. 179411181 c.94877C>T p.T31626I missense 0.00002506●●●●●●
11527. 179411178 c.94880T>C p.I31627T missense 0.00001669●●●●●●
11528. 179411173 c.94885G>A p.A31629T missense 0.00002501●●●●●●
11529. 179411169 c.94889G>A p.G31630D missense 0.00000833●●●●●●
11530. 179411166 c.94892C>T p.S31631F missense 0.00000833●●●●●●
11531. 179411158 c.94900G>C p.V31634L missense 0.00000832●●●●●●
11532. 179411152 c.94906G>A p.D31636N missense 0.00019947●●●●●●
11533. 179411151 c.94907A>G p.D31636G missense 0.00000831●●●●●●
11534. 179411142 c.94916T>C p.V31639A missense 0.00000830●●●●●●
11535. 179411140 c.94918G>A p.G31640S missense 0.00000830●●●●●●
11536. 179411125 c.94933C>T p.P31645S missense 0.00003318●●●●●●
11537. 179411099 c.94959C>A p.D31653E missense 0.00001657●●●●●●
11538. 179411093 c.94965G>T p.E31655D missense 0.00000829●●●●●●
11539. 179411092 c.94966C>A p.L31656I missense 0.00000829●●●●●●
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11541. 179411086 c.94972C>A p.L31658I missense 0.00000828●●●●●●
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11785. 179407653 c.96928A>C p.T32310P missense 0.00000838●●●●●●
11786. 179407652 c.96929C>T p.T32310I missense 0.00000837●●●●●●
11787. 179407650 c.96931A>G p.M32311V missense 0.00000836●●●●●●
11788. 179407637 c.96944C>T p.T32315I missense 0.00550895●●●●●●
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11790. 179407623 c.96958G>T p.A32320S missense 0.00000830●●●●●●
11791. 179407610 c.96971T>C p.V32324A missense 0.00004146●●●●●●
11792. 179407605 c.96976C>G p.L32326V missense 0.00000829●●●●●●
11793. 179407596 c.96985C>T p.P32329S missense 0.00000829●●●●●●
11794. 179407592 c.96989T>C p.I32330T missense 0.00004144●●●●●●
11795. 179407584 c.96997C>T p.R32333C missense 0.00001658●●●●●●
11796. 179407583 c.96998G>A p.R32333H missense 0.00042273●●●●●●
11797. 179407580 c.97001C>T p.P32334L missense 0.00001658●●●●●●
11798. 179407578 c.97003C>T p.P32335S missense 0.00000829●●●●●●
11799. 179407577 c.97004C>G p.P32335R missense 0.00000829●●●●●●
11800. 179407574 c.97007C>T p.P32336L missense 0.00000829●●●●●●
11801. 179407551 c.97030G>A p.G32344S missense 0.00001658●●●●●●
11802. 179407545 c.97036A>C p.K32346Q missense 0.00000829●●●●●●
11803. 179407527 c.97054C>T p.R32352C missense 0.00003315●●●●●●
11804. 179407526 c.97055G>A p.R32352H missense 0.00006630●●●●●●
11805. 179407514 c.97067A>C p.E32356A missense 0.00001657●●●●●●
11806. 179407511 c.97070C>G p.T32357S missense 0.00001657●●●●●●
11807. 179407511 c.97070C>T p.T32357I missense 0.00002485●●●●●●
11808. 179407505 c.97076C>T p.T32359I missense 0.00000828●●●●●●
11809. 179407503 c.97078A>C p.K32360Q missense 0.00000828●●●●●●
11810. 179407500 c.97081G>C p.V32361L missense 0.00000828●●●●●●
11811. 179407496 c.97085C>T p.A32362V missense 0.00005798●●●●●●
11812. 179407496 c.97085C>G p.A32362G missense 0.00001657●●●●●●
11813. 179407482 c.97099C>T p.R32367C missense 0.00041411●●●●●●
11814. 179407481 c.97100G>A p.R32367H missense 0.00000828●●●●●●
11815. 179407475 c.97106C>T p.T32369I missense 0.00001656●●●●●●
11816. 179407472 c.97109C>A p.T32370N missense 0.00004969●●●●●●
11817. 179407469 c.97112T>G p.I32371S missense 0.00000828●●●●●●
11818. 179407436 c.97145A>T p.K32382M missense 0.00000828●●●●●●
11819. 179407435 c.97146G>T p.K32382N missense 0.00001657●●●●●●
11820. 179407431 c.97150G>A p.V32384I missense 0.00000829●●●●●●
11821. 179407425 c.97156G>A p.G32386R missense 0.00000829●●●●●●
11822. 179407424 c.97157G>C p.G32386A missense 0.00002486●●●●●●
11823. 179407385 c.97192+4A>G splice site 0.00000838●●●●●●
11824. 179407383 c.97192+6G>A splice site 0.00007553●●●●●●
11825. 179407293 c.97193-3T>C splice site 0.00003426●●●●●●
11826. 179407285 c.97198C>A p.P32400T missense 0.00011947●●●●●●
11827. 179407279 c.97204C>A p.P32402T missense 0.00000851●●●●●●
11828. 179407278 c.97205C>G p.P32402R missense 0.00000851●●●●●●
11829. 179407272 c.97211C>T p.T32404I missense 0.00000849●●●●●●
11830. 179407270 c.97213G>A p.G32405R missense 0.00000849●●●●●●
11831. 179407264 c.97219A>G p.I32407V missense 0.00000847●●●●●●
11832. 179407257 c.97226T>C p.I32409T missense 0.00000845●●●●●●
11833. 179407248 c.97235T>C p.I32412T missense 0.00001684●●●●●●
11834. 179407239 c.97244C>T p.T32415I missense 0.00000839●●●●●●
11835. 179407236 c.97247C>T p.S32416L missense 0.00001677●●●●●●
11836. 179407230 c.97253C>G p.T32418S missense 0.00002513●●●●●●
11837. 179407228 c.97255A>G p.I32419V missense 0.00001674●●●●●●
11838. 179407201 c.97282G>A p.G32428S missense 0.00000834●●●●●●
11839. 179407198 c.97285G>A p.G32429S missense 0.00003337●●●●●●
11840. 179407182 c.97301G>C p.G32434A missense 0.00000834●●●●●●
11841. 179407168 c.97315C>A p.Q32439K missense 0.00000834●●●●●●
11842. 179407168 c.97315C>T p.Q32439X nonsense 0.00000834●●●●●●
11843. 179407164 c.97319G>A p.R32440H missense 0.00000834●●●●●●
11844. 179407159 c.97324G>A p.A32442T missense 0.00003337●●●●●●
11845. 179407153 c.97330C>T p.R32444C missense 0.00000835●●●●●●
11846. 179407152 c.97331G>C p.R32444P missense 0.00028381●●●●●●
11847. 179407152 c.97331G>A p.R32444H missense 0.00000835●●●●●●
11848. 179407135 c.97348G>A p.V32450I missense 0.00009195●●●●●●
11849. 179407115 c.97368G>C p.R32456S missense 0.00000839●●●●●●
11850. 179407110 c.97373C>T p.T32458M missense 0.00000840●●●●●●
11851. 179407092 c.97391T>G p.L32464R missense 0.00000849●●●●●●
11852. 179407090 c.97393A>G p.T32465A missense 0.00000852●●●●●●
11853. 179407087 c.97396G>A p.E32466K missense 0.00007709●●●●●●
11854. 179407075 c.97408T>G p.Y32470D missense 0.00001743●●●●●●
11855. 179407065 c.97418G>A p.R32473H missense 0.00024938●●●●●●
11856. 179407063 c.97420G>A p.V32474M missense 0.00000896●●●●●●
11857. 179407057 c.97426G>A p.A32476T missense 0.00000911●●●●●●
11858. 179407048 c.97435C>A p.R32479S missense 0.00012183●●●●●●
11859. 179407047 c.97436G>A p.R32479H missense 0.00006622●●●●●●
11860. 179407042 c.97441G>A p.G32481R missense 0.00003876●●●●●●
11861. 179407042 c.97441G>C p.G32481R missense 0.00001938●●●●●●
11862. 179407041 c.97442G>A p.G32481E missense 0.00010702●●●●●●
11863. 179407038 c.97445T>C p.I32482T missense 0.00001962●●●●●●
11864. 179407027 c.97456T>G p.L32486V missense 0.00001027●●●●●●
11865. 179407011 c.97472T>C p.I32491T missense 0.00004383●●●●●●
11866. 179407003 c.97480C>T p.R32494C missense 0.00001142●●●●●●
11867. 179407002 c.97481G>A p.R32494H missense 0.00003458●●●●●●
11868. 179406993 c.97490T>C p.I32497T missense 0.00095494●●●●●●
11869. 179406991 c.97492C>T p.R32498C missense 0.00003686●●●●●●
11870. 179406988 c.97492+3_97492+6dupAAGT splice site 0.00001277●●●●●●
11871. 179406315 c.97493-4G>T splice site 0.00005064●●●●●●
11872. 179406311 c.97493G>A p.R32498H missense 0.00001221●●●●●●
11873. 179406294 c.97510G>A p.E32504K missense 0.00001094●●●●●●
11874. 179406290 c.97514C>T p.T32505I missense 0.00001080●●●●●●
11875. 179406286 c.97518A>C p.L32506F missense 0.00001043●●●●●●
11876. 179406284 c.97520A>G p.Q32507R missense 0.00001031●●●●●●
11877. 179406280 c.97524A>G p.I32508M missense 0.00003028●●●●●●
11878. 179406273 c.97531G>A p.V32511I missense 0.00000983●●●●●●
11879. 179406266 c.97538G>A p.R32513H missense 0.00046007●●●●●●
11880. 179406257 c.97547T>A p.M32516K missense 0.00000928●●●●●●
11881. 179406248 c.97556C>A p.T32519N missense 0.00002715●●●●●●
11882. 179406225 c.97579G>A p.G32527S missense 0.00001745●●●●●●
11883. 179406224 c.97580G>A p.G32527D missense 0.00000872●●●●●●
11884. 179406199 c.97605T>G p.I32535M missense 0.00001704●●●●●●
11885. 179406192 c.97612C>T p.R32538C missense 0.00012744●●●●●●
11886. 179406191 c.97613G>A p.R32538H missense 0.17782218●●●●●●
11887. 179406183 c.97621G>T p.V32541L missense 0.00000852●●●●●●
11888. 179406183 c.97621G>A p.V32541M missense 0.00000852●●●●●●
11889. 179406176 c.97628C>G p.A32543G missense 0.00000853●●●●●●
11890. 179406170 c.97634G>A p.R32545Q missense 0.00000856●●●●●●
11891. 179406168 c.97636T>A p.W32546R missense 0.00000856●●●●●●
11892. 179406162 c.97642C>T p.R32548C missense 0.00004311●●●●●●
11893. 179406161 c.97643G>A p.R32548H missense 0.00006913●●●●●●
11894. 179406146 c.97658C>T p.P32553L missense 0.00002667●●●●●●
11895. 179406132 c.97672C>T p.R32558W missense 0.00000969●●●●●●
11896. 179406131 c.97673G>A p.R32558Q missense 0.00009828●●●●●●
11897. 179406126 c.97678C>T p.R32560C missense 0.00004147●●●●●●
11898. 179406125 c.97679G>A p.R32560H missense 0.00002115●●●●●●
11899. 179406104 c.97700G>A p.G32567D missense 0.00001442●●●●●●
11900. 179406099 c.97705G>C p.E32569Q missense 0.00001595●●●●●●
11901. 179406096 c.97708T>C p.Y32570H missense 0.00001660●●●●●●
11902. 179406087 c.97717C>T p.R32573C missense 0.00020033●●●●●●
11903. 179406086 c.97718G>A p.R32573H missense 0.00006202●●●●●●
11904. 179406062 c.97742G>T p.G32581V missense 0.00069143●●●●●●
11905. 179406050 c.97754C>G p.P32585R missense 0.00003912●●●●●●
11906. 179406044 c.97760G>A p.R32587H missense 0.00373965●●●●●●
11907. 179406044 c.97760G>C p.R32587P missense 0.00129107●●●●●●
11908. 179406027 c.97777G>A p.V32593I missense 0.00005542●●●●●●
11909. 179406012 c.97792A>G p.I32598V missense 0.00006036●●●●●●
11910. 179406003 c.97795+6G>T splice site 0.38296669●●●●●●
11911. 179405091 c.97802C>T p.P32601L missense 0.00001733●●●●●●
11912. 179405085 c.97808A>G p.K32603R missense 0.00000850●●●●●●
11913. 179405072 c.97821_97822delAA p.Arg32608SerfsTer3 frameshift 0.00000835●●●●●●
11914. 179405070 c.97823G>A p.R32608K missense 0.00000835●●●●●●
11915. 179405034 c.97859C>T p.A32620V missense 0.00015750●●●●●●
11916. 179405028 c.97865G>A p.S32622N missense 0.00000829●●●●●●
11917. 179404992 c.97901G>C p.G32634A missense 0.00000828●●●●●●
11918. 179404985 c.97908G>C p.L32636F missense 0.00000828●●●●●●
11919. 179404984 c.97909A>G p.I32637V missense 0.00000828●●●●●●
11920. 179404966 c.97927G>T p.D32643Y missense 0.00000828●●●●●●
11921. 179404961 c.97932A>C p.Q32644H missense 0.00000828●●●●●●
11922. 179404951 c.97942A>C p.T32648P missense 0.00000828●●●●●●
11923. 179404950 c.97943C>A p.T32648N missense 0.00001656●●●●●●
11924. 179404947 c.97946A>C p.K32649T missense 0.00000828●●●●●●
11925. 179404946 c.97947G>C p.K32649N missense 0.00000828●●●●●●
11926. 179404944 c.97949G>A p.C32650Y missense 0.00000828●●●●●●
11927. 179404940 c.97953C>G p.N32651K missense 0.00000828●●●●●●
11928. 179404920 c.97973G>A p.R32658Q missense 0.00004969●●●●●●
11929. 179404917 c.97976A>T p.E32659V missense 0.00001656●●●●●●
11930. 179404915 c.97978T>C p.Y32660H missense 0.00000828●●●●●●
11931. 179404873 c.98020C>T p.R32674C missense 0.00005809●●●●●●
11932. 179404872 c.98021G>A p.R32674H missense 0.00003323●●●●●●
11933. 179404870 c.98023G>A p.V32675I missense 0.00008318●●●●●●
11934. 179404861 c.98032T>G p.C32678G missense 0.00001669●●●●●●
11935. 179404842 c.98051G>C p.G32684A missense 0.00000844●●●●●●
11936. 179404839 c.98054A>G p.E32685G missense 0.00001690●●●●●●
11937. 179404818 c.98075C>G p.T32692R missense 0.00002567●●●●●●
11938. 179404802 c.98091A>C p.E32697D missense 0.00003436●●●●●●
11939. 179404798 c.98095C>T p.L32699F missense 0.00000860●●●●●●
11940. 179404792 c.98098+3G>A splice site 0.00011199●●●●●●
11941. 179404788 c.98098+7C>A splice site 0.00001723●●●●●●
11942. 179404786 c.98098+9T>A splice site 0.18308465●●●●●●
11943. 179404698 c.98099-5dupT splice site 0.00000832●●●●●●
11944. 179404688 c.98104C>A p.P32702T missense 0.00001661●●●●●●
11945. 179404685 c.98107G>A p.D32703N missense 0.00000830●●●●●●
11946. 179404631 c.98161G>A p.V32721I missense 0.00002486●●●●●●
11947. 179404628 c.98164A>T p.I32722F missense 0.02511351●●●●●●
11948. 179404623 c.98169A>C p.R32723S missense 0.00000829●●●●●●
11949. 179404615 c.98177T>C p.I32726T missense 0.00000829●●●●●●
11950. 179404614 c.98178A>G p.I32726M missense 0.00000829●●●●●●
11951. 179404609 c.98183T>A p.I32728N missense 0.00000829●●●●●●
11952. 179404589 c.98203A>G p.I32735V missense 0.00002486●●●●●●
11953. 179404578 c.98214G>C p.W32738C missense 0.00000829●●●●●●
11954. 179404573 c.98219A>G p.K32740R missense 0.00001657●●●●●●
11955. 179404567 c.98225G>A p.G32742D missense 0.00004144●●●●●●
11956. 179404550 c.98242C>T p.R32748C missense 0.00404482●●●●●●
11957. 179404549 c.98243G>A p.R32748H missense 0.00006631●●●●●●
11958. 179404544 c.98248A>G p.M32750V missense 0.00000829●●●●●●
11959. 179404540 c.98252T>C p.I32751T missense 0.00001657●●●●●●
11960. 179404537 c.98255C>T p.A32752V missense 0.00001658●●●●●●
11961. 179404525 c.98267C>T p.T32756I missense 0.00042266●●●●●●
11962. 179404517 c.98275G>A p.E32759K missense 0.00000829●●●●●●
11963. 179404502 c.98290G>A p.E32764K missense 0.00000829●●●●●●
11964. 179404501 c.98291A>G p.E32764G missense 0.00001657●●●●●●
11965. 179404498 c.98294C>G p.A32765G missense 0.00283422●●●●●●
11966. 179404496 c.98296G>T p.D32766Y missense 0.00000829●●●●●●
11967. 179404493 c.98299_98300delAG p.Arg32767fs frameshift 0.00000829●●●●●●
11968. 179404493 c.98299delA p.Arg32767GlyfsTer26 frameshift 0.00000829●●●●●●
11969. 179404487 c.98305G>T p.D32769Y missense 0.00000829●●●●●●
11970. 179404483 c.98309C>G p.S32770C missense 0.00000829●●●●●●
11971. 179404470 c.98322C>A p.D32774E missense 0.00000829●●●●●●
11972. 179404460 c.98332G>A p.E32778K missense 0.00000829●●●●●●
11973. 179404451 c.98341T>C p.C32781R missense 0.00030659●●●●●●
11974. 179404427 c.98365A>C p.K32789Q missense 0.00000829●●●●●●
11975. 179404426 c.98366A>G p.K32789R missense 0.00008285●●●●●●
11976. 179404417 c.98375T>C p.V32792A missense 0.00001657●●●●●●
11977. 179404414 c.98378T>C p.I32793T missense 0.00000829●●●●●●
11978. 179404412 c.98380G>C p.G32794R missense 0.00000829●●●●●●
11979. 179404407 c.98385T>G p.S32795R missense 0.00007457●●●●●●
11980. 179404402 c.98390A>G p.N32797S missense 0.00435806●●●●●●
11981. 179404393 c.98399A>C p.E32800A missense 0.00000829●●●●●●
11982. 179404361 c.98431C>T p.R32811C missense 0.00013257●●●●●●
11983. 179404360 c.98432G>A p.R32811H missense 0.00003314●●●●●●
11984. 179404345 c.98447G>A p.S32816N missense 0.00001657●●●●●●
11985. 179404334 c.98458C>T p.P32820S missense 0.00001657●●●●●●
11986. 179404327 c.98465A>G p.D32822G missense 0.00006627●●●●●●
11987. 179404319 c.98473G>A p.G32825S missense 0.00000828●●●●●●
11988. 179404312 c.98480A>G p.D32827G missense 0.00000828●●●●●●
11989. 179404310 c.98482A>G p.I32828V missense 0.00003313●●●●●●
11990. 179404303 c.98489G>A p.G32830D missense 0.00001656●●●●●●
11991. 179404292 c.98500G>A p.E32834K missense 0.00016564●●●●●●
11992. 179404285 c.98507G>A p.R32836Q missense 0.00001656●●●●●●
11993. 179404280 c.98512G>C p.V32838L missense 0.00000828●●●●●●
11994. 179404280 c.98512G>A p.V32838M missense 0.00000828●●●●●●
11995. 179404280 c.98512G>T p.V32838L missense 0.00000828●●●●●●
11996. 179404268 c.98524G>A p.A32842T missense 0.00003313●●●●●●
11997. 179404265 c.98527T>G p.W32843G missense 0.00000828●●●●●●
11998. 179404255 c.98537T>C p.I32846T missense 0.00000828●●●●●●
11999. 179404253 c.98539G>T p.D32847Y missense 0.00002484●●●●●●
12000. 179404241 c.98551C>T p.Arg32851Ter nonsense 0.00001656●●●●●●
12001. 179404240 c.98552G>A p.R32851Q missense 0.00001656●●●●●●
12002. 179404234 c.98558C>T p.T32853I missense 0.00000828●●●●●●
12003. 179404228 c.98564T>C p.L32855P missense 0.00000828●●●●●●
12004. 179404217 c.98575G>A p.G32859S missense 0.00000828●●●●●●
12005. 179404216 c.98576G>A p.G32859D missense 0.00000828●●●●●●
12006. 179404207 c.98585A>T p.E32862V missense 0.00000828●●●●●●
12007. 179404205 c.98587A>T p.N32863Y missense 0.00000828●●●●●●
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12310. 179400099 c.101243C>T p.T33748I missense 0.00000828●●●●●●
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12325. 179399961 c.101381A>G p.E33794G missense 0.00000828●●●●●●
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12330. 179399902 c.101440G>A p.E33814K missense 0.00001657●●●●●●
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12332. 179399877 c.101465C>T p.A33822V missense 0.00000828●●●●●●
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12340. 179399836 c.101506T>A p.C33836S missense 0.00013253●●●●●●
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12350. 179399743 c.101599C>G p.L33867V missense 0.00009122●●●●●●
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12427. 179399072 c.102270_102271insAC p.Arg34091ThrfsTer8 frameshift 0.00000829●●●●●●
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12430. 179399068 c.102274C>T p.R34092C missense 0.00003315●●●●●●
12431. 179399067 c.102275G>A p.R34092H missense 0.00004973●●●●●●
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12710. 179397010 c.104332A>G p.T34778A missense 0.00000829●●●●●●
12711. 179397009 c.104333C>T p.T34778M missense 0.00005804●●●●●●
12712. 179397006 c.104336C>G p.T34779S missense 0.00000829●●●●●●
12713. 179396995 c.104347C>T p.L34783F missense 0.00110357●●●●●●
12714. 179396989 c.104353G>C p.E34785Q missense 0.00003320●●●●●●
12715. 179396983 c.104359A>G p.K34787E missense 0.00002491●●●●●●
12716. 179396977 c.104365G>A p.E34789K missense 0.00050697●●●●●●
12717. 179396974 c.104368C>T p.L34790F missense 0.00001662●●●●●●
12718. 179396965 c.104377A>C p.M34793L missense 0.00241208●●●●●●
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12721. 179396929 c.104413C>T p.R34805X nonsense 0.00000833●●●●●●
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12723. 179396917 c.104425G>A p.V34809M missense 0.00000833●●●●●●
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12727. 179396890 c.104452_104454delGAA p.Glu34818del inframe 0.00000832●●●●●●
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12729. 179396884 c.104458G>A p.E34820K missense 0.00004995●●●●●●
12730. 179396878 c.104464T>C p.S34822P missense 0.00000832●●●●●●
12731. 179396877 c.104465C>T p.S34822L missense 0.00001664●●●●●●
12732. 179396871 c.104471A>G p.H34824R missense 0.00000831●●●●●●
12733. 179396858 c.104484A>T p.E34828D missense 0.00000831●●●●●●
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12735. 179396834 c.104508_104510delACT p.Leu34837del inframe 0.00000830●●●●●●
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12737. 179396824 c.104518C>T p.R34840W missense 0.00003319●●●●●●
12738. 179396823 c.104519G>A p.R34840Q missense 0.00010787●●●●●●
12739. 179396821 c.104521C>T p.R34841C missense 0.00002489●●●●●●
12740. 179396820 c.104522G>A p.R34841H missense 0.00012445●●●●●●
12741. 179396808 c.104534C>T p.P34845L missense 0.00000830●●●●●●
12742. 179396802 c.104540_104541insATAT p.Tyr34847Ter frameshift 0.00000830●●●●●●
12743. 179396797 c.104545G>A p.E34849K missense 0.00003318●●●●●●
12744. 179396782 c.104560G>C p.V34854L missense 0.00496955●●●●●●
12745. 179396781 c.104561T>C p.V34854A missense 0.00000830●●●●●●
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12747. 179396772 c.104570T>C p.L34857P missense 0.00000830●●●●●●
12748. 179396769 c.104573T>A p.I34858N missense 0.00000830●●●●●●
12749. 179396766 c.104576G>A p.R34859Q missense 0.01295143●●●●●●
12750. 179396764 c.104578T>C p.S34860P missense 0.00000830●●●●●●
12751. 179396761 c.104581C>T p.R34861C missense 0.00001661●●●●●●
12752. 179396760 c.104582G>A p.R34861H missense 0.00004983●●●●●●
12753. 179396752 c.104590C>A p.P34864T missense 0.00000831●●●●●●
12754. 179396751 c.104591C>T p.P34864L missense 0.00014134●●●●●●
12755. 179396737 c.104605G>A p.E34869K missense 0.00000835●●●●●●
12756. 179396700 c.104642G>A p.R34881K missense 0.00000845●●●●●●
12757. 179396697 c.104645C>T p.T34882I missense 0.00000846●●●●●●
12758. 179396694 c.104648G>A p.R34883H missense 0.00000849●●●●●●
12759. 179396668 c.104674A>G p.S34892G missense 0.00001722●●●●●●
12760. 179396665 c.104677G>A p.E34893K missense 0.00000863●●●●●●
12761. 179396652 c.104690C>T p.S34897L missense 0.00003479●●●●●●
12762. 179396649 c.104693G>C p.R34898T missense 0.00000871●●●●●●
12763. 179396648 c.104694A>C p.R34898S missense 0.00003479●●●●●●
12764. 179396634 c.104708C>G p.A34903G missense 0.00000874●●●●●●
12765. 179396631 c.104711G>A p.R34904K missense 0.00007857●●●●●●
12766. 179396625 c.104717A>C p.D34906A missense 0.00001744●●●●●●
12767. 179396625 c.104717A>G p.D34906G missense 0.00000872●●●●●●
12768. 179396616 c.104726C>T p.S34909F missense 0.00000871●●●●●●
12769. 179396610 c.104732A>G p.Y34911C missense 0.00000868●●●●●●
12770. 179396608 c.104734G>A p.E34912K missense 0.00000869●●●●●●
12771. 179396596 c.104746G>A p.A34916T missense 0.00000863●●●●●●
12772. 179396592 c.104750C>T p.A34917V missense 0.00000860●●●●●●
12773. 179396581 c.104761C>G p.Q34921E missense 0.00000854●●●●●●
12774. 179396568 c.104774A>C p.E34925A missense 0.00234053●●●●●●
12775. 179396567 c.104775A>C p.E34925D missense 0.00000848●●●●●●
12776. 179396562 c.104780A>G p.K34927R missense 0.00000841●●●●●●
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12778. 179396548 c.104794A>G p.S34932G missense 0.00000833●●●●●●
12779. 179396544 c.104798A>T p.Q34933L missense 0.00001663●●●●●●
12780. 179396530 c.104812C>G p.L34938V missense 0.00000829●●●●●●
12781. 179396527 c.104815G>C p.D34939H missense 0.00000829●●●●●●
12782. 179396514 c.104828G>A p.R34943Q missense 0.00000829●●●●●●
12783. 179396512 c.104830A>G p.I34944V missense 0.00000828●●●●●●
12784. 179396497 c.104845C>T p.R34949C missense 0.00002485●●●●●●
12785. 179396496 c.104846G>A p.R34949H missense 0.00002485●●●●●●
12786. 179396493 c.104849C>T p.S34950L missense 0.00000828●●●●●●
12787. 179396485 c.104857G>A p.V34953I missense 0.00004969●●●●●●
12788. 179396485 c.104857G>T p.V34953L missense 0.00001656●●●●●●
12789. 179396479 c.104863T>G p.C34955G missense 0.00000828●●●●●●
12790. 179396475 c.104867G>A p.G34956D missense 0.00000828●●●●●●
12791. 179396464 c.104878C>T p.R34960C missense 0.00002484●●●●●●
12792. 179396457 c.104885T>A p.I34962N missense 0.00000828●●●●●●
12793. 179396452 c.104890A>T p.N34964Y missense 0.00001656●●●●●●
12794. 179396451 c.104891A>G p.N34964S missense 0.00000828●●●●●●
12795. 179396428 c.104914G>A p.E34972K missense 0.00000828●●●●●●
12796. 179396409 c.104933A>G p.N34978S missense 0.00003312●●●●●●
12797. 179396406 c.104936G>C p.G34979A missense 0.00005797●●●●●●
12798. 179396389 c.104953A>G p.S34985G missense 0.00002485●●●●●●
12799. 179396371 c.104971A>G p.T34991A missense 0.00000828●●●●●●
12800. 179396364 c.104978C>T p.T34993M missense 0.00006629●●●●●●
12801. 179396356 c.104986G>A p.V34996I missense 0.00000829●●●●●●
12802. 179396353 c.104989C>G p.L34997V missense 0.00002486●●●●●●
12803. 179396329 c.105013C>T p.H35005Y missense 0.00000829●●●●●●
12804. 179396311 c.105031A>G p.T35011A missense 0.00000829●●●●●●
12805. 179396305 c.105037C>T p.R35013C missense 0.00010775●●●●●●
12806. 179396305 c.105037C>A p.R35013S missense 0.00000829●●●●●●
12807. 179396304 c.105038G>A p.R35013H missense 0.00005801●●●●●●
12808. 179396301 c.105041C>A p.A35014D missense 0.00003315●●●●●●
12809. 179396293 c.105049A>G p.T35017A missense 0.00001657●●●●●●
12810. 179396278 c.105064G>A p.E35022K missense 0.00000829●●●●●●
12811. 179396272 c.105070T>G p.S35024A missense 0.00000828●●●●●●
12812. 179396265 c.105077A>G p.Y35026C missense 0.00000828●●●●●●
12813. 179396263 c.105079G>A p.A35027T missense 0.00000828●●●●●●
12814. 179396259 c.105083C>T p.T35028M missense 0.00000828●●●●●●
12815. 179396256 c.105086T>G p.L35029W missense 0.00000828●●●●●●
12816. 179396253 c.105089A>G p.D35030G missense 0.00001657●●●●●●
12817. 179396252 c.105090C>A p.D35030E missense 0.00000828●●●●●●
12818. 179396251 c.105091G>A p.V35031M missense 0.00004970●●●●●●
12819. 179396244 c.105098G>A p.G35033E missense 0.00000828●●●●●●
12820. 179396223 c.105119C>G p.A35040G missense 0.00000828●●●●●●
12821. 179396215 c.105127C>T p.R35043C missense 0.00060462●●●●●●
12822. 179396214 c.105128G>A p.R35043H missense 0.00019879●●●●●●
12823. 179396214 c.105128G>C p.R35043P missense 0.00000828●●●●●●
12824. 179396206 c.105136G>A p.E35046K missense 0.00000828●●●●●●
12825. 179396193 c.105149G>C p.R35050T missense 0.00002485●●●●●●
12826. 179396192 c.105150A>C p.R35050S missense 0.00000828●●●●●●
12827. 179396188 c.105154G>A p.V35052I missense 0.00000828●●●●●●
12828. 179396185 c.105157T>C p.F35053L missense 0.00000828●●●●●●
12829. 179396178 c.105164A>G p.E35055G missense 0.00000828●●●●●●
12830. 179396162 c.105180G>C p.E35060D missense 0.03781102●●●●●●
12831. 179396160 c.105182C>T p.A35061V missense 0.00002485●●●●●●
12832. 179396143 c.105199T>C p.F35067L missense 0.00000828●●●●●●
12833. 179396133 c.105209C>T p.T35070I missense 0.00001656●●●●●●
12834. 179396130 c.105212C>G p.S35071C missense 0.00020704●●●●●●
12835. 179396122 c.105220G>A p.E35074K missense 0.00000828●●●●●●
12836. 179396115 c.105227C>T p.S35076L missense 0.00000828●●●●●●
12837. 179396107 c.105235G>A p.V35079I missense 0.00000828●●●●●●
12838. 179396101 c.105241G>A p.E35081K missense 0.00002484●●●●●●
12839. 179396082 c.105260C>T p.T35087M missense 0.00010766●●●●●●
12840. 179396071 c.105271G>C p.E35091Q missense 0.00000828●●●●●●
12841. 179396070 c.105272A>C p.E35091A missense 0.00000828●●●●●●
12842. 179396051 c.105291A>T p.E35097D missense 0.00000828●●●●●●
12843. 179396031 c.105311T>C p.M35104T missense 0.00000828●●●●●●
12844. 179395996 c.105346G>A p.E35116K missense 0.00000828●●●●●●
12845. 179395968 c.105374C>T p.T35125M missense 0.00005796●●●●●●
12846. 179395959 c.105383C>T p.A35128V missense 0.00005796●●●●●●
12847. 179395951 c.105391A>G p.I35131V missense 0.00000828●●●●●●
12848. 179395936 c.105406C>G p.R35136G missense 0.00001656●●●●●●
12849. 179395936 c.105406C>T p.R35136W missense 0.00005797●●●●●●
12850. 179395935 c.105407G>A p.R35136Q missense 0.00002484●●●●●●
12851. 179395930 c.105412A>G p.M35138V missense 0.00001656●●●●●●
12852. 179395929 c.105413T>C p.M35138T missense 0.00002484●●●●●●
12853. 179395926 c.105416C>T p.T35139I missense 0.00004968●●●●●●
12854. 179395924 c.105418G>A p.V35140I missense 0.00004140●●●●●●
12855. 179395918 c.105424G>A p.E35142K missense 0.00004968●●●●●●
12856. 179395912 c.105430G>A p.E35144K missense 0.00006624●●●●●●
12857. 179395909 c.105433T>A p.S35145T missense 0.00000828●●●●●●
12858. 179395906 c.105436G>A p.A35146T missense 0.00000828●●●●●●
12859. 179395893 c.105449G>A p.C35150Y missense 0.00004968●●●●●●
12860. 179395888 c.105454A>C p.T35152P missense 0.00001656●●●●●●
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12864. 179395875 c.105467C>T p.P35156L missense 0.00000828●●●●●●
12865. 179395873 c.105469G>C p.V35157L missense 0.00000828●●●●●●
12866. 179395870 c.105472C>A p.P35158T missense 0.00000828●●●●●●
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12868. 179395869 c.105473C>A p.P35158Q missense 0.00000828●●●●●●
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12870. 179395860 c.105482C>A p.T35161N missense 0.00004140●●●●●●
12871. 179395852 c.105490C>T p.R35164C missense 0.00005796●●●●●●
12872. 179395851 c.105491G>A p.R35164H missense 0.00002484●●●●●●
12873. 179395830 c.105512C>T p.T35171I missense 0.00019045●●●●●●
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12880. 179395785 c.105557T>C p.F35186S missense 0.00000828●●●●●●
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12890. 179395704 c.105638A>C p.E35213A missense 0.00000828●●●●●●
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12893. 179395689 c.105653T>C p.I35218T missense 0.00024843●●●●●●
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12895. 179395656 c.105686C>T p.T35229I missense 0.00000828●●●●●●
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12897. 179395624 c.105718C>T p.R35240W missense 0.00000828●●●●●●
12898. 179395623 c.105719G>A p.R35240Q missense 0.00007455●●●●●●
12899. 179395605 c.105737C>G p.A35246G missense 0.00008284●●●●●●
12900. 179395587 c.105755G>A p.R35252Q missense 0.00001657●●●●●●
12901. 179395585 c.105757G>A p.V35253M missense 0.00005800●●●●●●
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12903. 179395573 c.105769G>A p.E35257K missense 0.01393838●●●●●●
12904. 179395567 c.105775T>C p.S35259P missense 0.00000829●●●●●●
12905. 179395560 c.105782C>T p.P35261L missense 0.04012468●●●●●●
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12907. 179395554 c.105788C>T p.A35263V missense 0.01138267●●●●●●
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12909. 179395552 c.105790G>C p.V35264L missense 0.00000829●●●●●●
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12911. 179395537 c.105805delA p.Thr35269GlnfsTer24 frameshift 0.00000829●●●●●●
12912. 179395536 c.105806C>T p.T35269I missense 0.00002488●●●●●●
12913. 179395530 c.105812C>T p.P35271L missense 0.00001659●●●●●●
12914. 179395528 c.105814delA p.T35272Hfs*21 frameshift 0.00001659●●●●●●
12915. 179395521 c.105821C>T p.T35274I missense 0.00000830●●●●●●
12916. 179395517 c.105825G>C p.E35275D missense 0.00001660●●●●●●
12917. 179395512 c.105830T>C p.V35277A missense 0.00000830●●●●●●
12918. 179395510 c.105832C>A p.Q35278K missense 0.00000830●●●●●●
12919. 179395508 c.105834G>C p.Q35278H missense 0.00000830●●●●●●
12920. 179395500 c.105842C>T p.P35281L missense 0.00000830●●●●●●
12921. 179395498 c.105844G>T p.V35282F missense 0.00000830●●●●●●
12922. 179395479 c.105863T>C p.I35288T missense 0.00001660●●●●●●
12923. 179395471 c.105871T>G p.F35291V missense 0.00002489●●●●●●
12924. 179395461 c.105881C>T p.A35294V missense 0.00004149●●●●●●
12925. 179395442 c.105900T>G p.I35300M missense 0.00000830●●●●●●
12926. 179395434 c.105908T>C p.L35303P missense 0.00001659●●●●●●
12927. 179395422 c.105920T>C p.V35307A missense 0.00002488●●●●●●
12928. 179395419 c.105923A>C p.E35308A missense 0.00000829●●●●●●
12929. 179395417 c.105925A>C p.S35309R missense 0.00000829●●●●●●
12930. 179395407 c.105935T>G p.L35312X nonsense 0.00001658●●●●●●
12931. 179395402 c.105940G>A p.A35314T missense 0.00004145●●●●●●
12932. 179395392 c.105950T>C p.V35317A missense 0.00000829●●●●●●
12933. 179395375 c.105967G>A p.G35323S missense 0.00000829●●●●●●
12934. 179395351 c.105991C>A p.H35331N missense 0.00000829●●●●●●
12935. 179395338 c.106004A>G p.H35335R missense 0.00001658●●●●●●
12936. 179395324 c.106018G>A p.G35340S missense 0.00000829●●●●●●
12937. 179395318 c.106024delT p.Tyr35342MetfsTer63 frameshift 0.00000829●●●●●●
12938. 179395315 c.106027G>A p.E35343K missense 0.00000829●●●●●●
12939. 179395302 c.106040A>G p.N35347S missense 0.00000829●●●●●●
12940. 179395298 c.106044C>A p.N35348K missense 0.00004143●●●●●●
12941. 179395287 c.106055C>A p.S35352Y missense 0.00001657●●●●●●
12942. 179395285 c.106057G>C p.D35353H missense 0.00000828●●●●●●
12943. 179395282 c.106060C>T p.Q35354X nonsense 0.00000828●●●●●●
12944. 179395281 c.106061A>G p.Q35354R missense 0.00002485●●●●●●
12945. 179395248 c.106094G>A p.G35365D missense 0.00000828●●●●●●
12946. 179395242 c.106100C>T p.T35367M missense 0.00002485●●●●●●
12947. 179395225 c.106117C>A p.Q35373K missense 0.00000828●●●●●●
12948. 179395221 c.106121T>A p.F35374Y missense 0.00015736●●●●●●
12949. 179395215 c.106127G>C p.G35376A missense 0.00002485●●●●●●
12950. 179395209 c.106133C>G p.A35378G missense 0.00007455●●●●●●
12951. 179395209 c.106133C>T p.A35378V missense 0.00000828●●●●●●
12952. 179395188 c.106154A>C p.K35385T missense 0.00000828●●●●●●
12953. 179395186 c.106156G>T p.V35386L missense 0.00000828●●●●●●
12954. 179395173 c.106169C>T p.S35390L missense 0.00000828●●●●●●
12955. 179395162 c.106180A>C p.K35394Q missense 0.00000828●●●●●●
12956. 179395158 c.106184C>T p.S35395L missense 0.00001656●●●●●●
12957. 179395151 c.106191G>C p.Q35397H missense 0.00000828●●●●●●
12958. 179395129 c.106213A>C p.T35405P missense 0.00001656●●●●●●
12959. 179395125 c.106217G>C p.R35406T missense 0.00002485●●●●●●
12960. 179395125 c.106217G>A p.R35406K missense 0.00000828●●●●●●
12961. 179395108 c.106234G>C p.A35412P missense 0.00000828●●●●●●
12962. 179395084 c.106258C>T p.P35420S missense 0.00003312●●●●●●
12963. 179395083 c.106259C>G p.P35420R missense 0.00000828●●●●●●
12964. 179395075 c.106267G>T p.V35423F missense 0.00000828●●●●●●
12965. 179395069 c.106273G>C p.G35425R missense 0.00000828●●●●●●
12966. 179395059 c.106283A>T p.D35428V missense 0.00002485●●●●●●
12967. 179395051 c.106291G>C p.V35431L missense 0.00000828●●●●●●
12968. 179395050 c.106292T>C p.V35431A missense 0.00000828●●●●●●
12969. 179395047 c.106295C>A p.S35432Y missense 0.00000828●●●●●●
12970. 179395042 c.106300G>C p.D35434H missense 0.00000828●●●●●●
12971. 179395030 c.106312A>G p.K35438E missense 0.00000829●●●●●●
12972. 179395023 c.106319C>T p.A35440V missense 0.00003316●●●●●●
12973. 179395000 c.106342C>T p.R35448W missense 0.00004163●●●●●●
12974. 179394999 c.106343G>A p.R35448Q missense 0.00002500●●●●●●
12975. 179394993 c.106349C>G p.T35450S missense 0.00005010●●●●●●
12976. 179394977 c.106365A>C p.K35455N missense 0.00001684●●●●●●
12977. 179394967 c.106374+1delG essential splice site 0.00000848●●●●●●
12978. 179394841 c.106377C>T splice site 0.00000835●●●●●●
12979. 179394836 c.106382C>T p.T35461I missense 0.00000835●●●●●●
12980. 179394830 c.106388G>C p.G35463A missense 0.00004168●●●●●●
12981. 179394827 c.106391G>A p.G35464D missense 0.00000833●●●●●●
12982. 179394801 c.106417G>A p.G35473R missense 0.00001663●●●●●●
12983. 179394797 c.106421G>T p.G35474V missense 0.00000831●●●●●●
12984. 179394795 c.106423T>A p.F35475I missense 0.00024107●●●●●●
12985. 179394795 c.106423T>G p.F35475V missense 0.00000831●●●●●●
12986. 179394776 c.106442A>G p.K35481R missense 0.00002490●●●●●●
12987. 179394767 c.106451C>G p.T35484S missense 0.00000830●●●●●●
12988. 179394752 c.106466T>A p.L35489H missense 0.00000829●●●●●●
12989. 179394750 c.106468T>C p.Y35490H missense 0.00015756●●●●●●
12990. 179394729 c.106489T>G p.S35497A missense 0.00000829●●●●●●
12991. 179394707 c.106511G>C p.S35504T missense 0.00002487●●●●●●
12992. 179394687 c.106531G>C p.A35511P missense 0.00000829●●●●●●
12993. 179394687 c.106531G>A p.A35511T missense 0.00000829●●●●●●
12994. 179394686 c.106531+1G>A essential splice site 0.00000829●●●●●●
12995. 179394681 c.106531+6T>G splice site 0.00000829●●●●●●
12996. 179394681 c.106531+6T>C splice site 0.00002488●●●●●●
12997. 179393941 c.106537A>G p.K35513E missense 0.00009522●●●●●●
12998. 179393929 c.106549G>A p.A35517T missense 0.00002896●●●●●●
12999. 179393926 c.106552C>A p.Q35518K missense 0.00002626●●●●●●
13000. 179393925 c.106553A>T p.Q35518L missense 0.00002615●●●●●●
13001. 179393907 c.106571A>G p.K35524R missense 0.00001767●●●●●●
13002. 179393898 c.106580A>T p.E35527V missense 0.00081363●●●●●●
13003. 179393893 c.106585A>C p.T35529P missense 0.00002836●●●●●●
13004. 179393880 c.106598A>C p.K35533T missense 0.00001208●●●●●●
13005. 179393874 c.106604T>C p.V35535A missense 0.00001128●●●●●●
13006. 179393859 c.106619T>C p.I35540T missense 0.01422636●●●●●●
13007. 179393836 c.106642G>A p.E35548K missense 0.00001738●●●●●●
13008. 179393808 c.106670C>G p.S35557C missense 0.00000835●●●●●●
13009. 179393803 c.106675G>C p.E35559Q missense 0.00041703●●●●●●
13010. 179393799 c.106679A>T p.K35560M missense 0.00000833●●●●●●
13011. 179393798 c.106680G>C p.K35560N missense 0.00000833●●●●●●
13012. 179393797 c.106681T>A p.L35561I missense 0.00000833●●●●●●
13013. 179393770 c.106708G>T p.V35570F missense 0.00004985●●●●●●
13014. 179393751 c.106727T>C p.V35576A missense 0.00000830●●●●●●
13015. 179393733 c.106745C>A p.T35582N missense 0.00000830●●●●●●
13016. 179393715 c.106763T>C p.I35588T missense 0.00000830●●●●●●
13017. 179393713 c.106765G>T p.V35589F missense 0.00001659●●●●●●
13018. 179393709 c.106769A>G p.H35590R missense 0.00002488●●●●●●
13019. 179393697 c.106781C>A p.T35594N missense 0.00001658●●●●●●
13020. 179393692 c.106786A>G p.T35596A missense 0.00000829●●●●●●
13021. 179393691 c.106787C>T p.T35596I missense 0.00979222●●●●●●
13022. 179393686 c.106792C>G p.Q35598E missense 0.00005804●●●●●●
13023. 179393686 c.106792C>T p.Q35598X nonsense 0.00000829●●●●●●
13024. 179393683 c.106795G>C p.A35599P missense 0.00003316●●●●●●
13025. 179393673 c.106805_106807delAAG p.Glu35602del inframe 0.00001658●●●●●●
13026. 179393658 c.106820C>T p.A35607V missense 0.00015756●●●●●●
13027. 179393656 c.106822G>A p.E35608K missense 0.00000829●●●●●●
13028. 179393653 c.106825A>G p.I35609V missense 0.00000829●●●●●●
13029. 179393651 c.106827T>G p.I35609M missense 0.00019904●●●●●●
13030. 179393650 c.106828A>G p.K35610E missense 0.00000829●●●●●●
13031. 179393643 c.106835T>C p.F35612S missense 0.00000829●●●●●●
13032. 179393641 c.106837T>G p.S35613A missense 0.00004977●●●●●●
13033. 179393641 c.106837T>C p.S35613P missense 0.00001659●●●●●●
13034. 179393620 c.106858G>A p.E35620K missense 0.00003318●●●●●●
13035. 179393614 c.106864C>G p.Q35622E missense 0.00000830●●●●●●
13036. 179393610 c.106868G>T p.R35623I missense 0.00001659●●●●●●
13037. 179393602 c.106876T>G p.L35626V missense 0.00005809●●●●●●
13038. 179393595 c.106883C>G p.A35628G missense 0.00003321●●●●●●
13039. 179393592 c.106886A>G p.N35629S missense 0.00001661●●●●●●
13040. 179393590 c.106888A>G p.I35630V missense 0.00000830●●●●●●
13041. 179393572 c.106906G>A p.V35636M missense 0.00000831●●●●●●
13042. 179393564 c.106914G>C p.W35638C missense 0.00000832●●●●●●
13043. 179393559 c.106919T>G p.L35640R missense 0.00001665●●●●●●
13044. 179393551 c.106927G>A p.V35643I missense 0.00005006●●●●●●
13045. 179393531 c.106947G>C p.E35649D missense 0.00000837●●●●●●
13046. 179393524 c.106954C>T p.Arg35652Ter nonsense 0.00001678●●●●●●
13047. 179393523 c.106955G>A p.R35652Q missense 0.00017627●●●●●●
13048. 179393519 c.106959T>A p.Y35653X nonsense 0.00000839●●●●●●
13049. 179393505 c.106973G>A p.S35658N missense 0.00001685●●●●●●
13050. 179393496 c.106982C>T p.T35661I missense 0.00000845●●●●●●
13051. 179393484 c.106994A>G p.K35665R missense 0.00000846●●●●●●
13052. 179393476 c.107002A>C p.S35668R missense 0.00001695●●●●●●
13053. 179393469 c.107009G>C p.R35670T missense 0.00004239●●●●●●
13054. 179393462 c.107016A>C p.E35672D missense 0.00000849●●●●●●
13055. 179393451 c.107027C>T p.T35676I missense 0.00001704●●●●●●
13056. 179393428 c.107050G>A p.G35684R missense 0.00002579●●●●●●
13057. 179393422 c.107056G>A p.V35686I missense 0.00003455●●●●●●
13058. 179393409 c.107069A>G p.Y35690C missense 0.00000867●●●●●●
13059. 179393398 c.107080C>G p.L35694V missense 0.00006984●●●●●●
13060. 179393397 c.107081T>C p.L35694P missense 0.00000873●●●●●●
13061. 179393395 c.107083A>G p.S35695G missense 0.00000874●●●●●●
13062. 179393389 c.107089G>C p.E35697Q missense 0.00050032●●●●●●
13063. 179393374 c.107104C>G p.P35702A missense 0.00000884●●●●●●
13064. 179393373 c.107105C>T p.P35702L missense 0.00020361●●●●●●
13065. 179393370 c.107108C>G p.A35703G missense 0.00000886●●●●●●
13066. 179393358 c.107120A>T p.Q35707L missense 0.00000888●●●●●●
13067. 179393344 c.107134A>C p.N35712H missense 0.00009807●●●●●●
13068. 179393329 c.107149C>T p.Q35717X nonsense 0.00000892●●●●●●
13069. 179393319 c.107159T>G p.L35720R missense 0.00000890●●●●●●
13070. 179393314 c.107164A>C p.T35722P missense 0.00000891●●●●●●
13071. 179393296 c.107182G>A p.E35728K missense 0.00000896●●●●●●
13072. 179393279 c.107199C>G p.I35733M missense 0.00000908●●●●●●
13073. 179393278 c.107200G>A p.E35734K missense 0.00000910●●●●●●
13074. 179393265 c.107213A>G p.N35738S missense 0.00000921●●●●●●
13075. 179393160 c.107224-6T>C splice site 0.00002542●●●●●●
13076. 179393148 c.107230A>G p.I35744V missense 0.00007551●●●●●●
13077. 179393124 c.107254C>T p.R35752C missense 0.00023296●●●●●●
13078. 179393123 c.107255G>A p.R35752H missense 0.00002495●●●●●●
13079. 179393111 c.107267T>C p.V35756A missense 0.04465902●●●●●●
13080. 179393093 c.107285G>A p.R35762Q missense 0.00003317●●●●●●
13081. 179393058 c.107320A>G p.I35774V missense 0.00004971●●●●●●
13082. 179393039 c.107339G>A p.R35780H missense 0.00002486●●●●●●
13083. 179393027 c.107351delC p.S35784*fs*1 frameshift 0.00000829●●●●●●
13084. 179393021 c.107357C>T p.T35786I missense 0.00000829●●●●●●
13085. 179393016 c.107362T>G p.S35788A missense 0.00000829●●●●●●
13086. 179393004 c.107374C>A p.L35792I missense 0.00000830●●●●●●
13087. 179393002 c.107376T>C splice site 0.00000830●●●●●●
13088. 179393000 c.107377+1G>A essential splice site 0.00001661●●●●●●
13089. 179392997 c.107377+4A>G splice site 0.00000831●●●●●●
13090. 179392996 c.107377+5G>T splice site 0.00000831●●●●●●
13091. 179392996 c.107377+5G>A splice site 0.00000831●●●●●●
13092. 179392478 c.107378-3C>T splice site 0.00000924●●●●●●
13093. 179392470 c.107383G>C p.V35795L missense 0.00002715●●●●●●
13094. 179392469 c.107384T>C p.V35795A missense 0.00008123●●●●●●
13095. 179392464 c.107389G>C p.E35797Q missense 0.00001788●●●●●●
13096. 179392461 c.107392C>T p.P35798S missense 0.00004445●●●●●●
13097. 179392448 c.107405T>G p.V35802G missense 0.00000872●●●●●●
13098. 179392433 c.107420G>C p.S35807T missense 0.00000852●●●●●●
13099. 179392424 c.107429C>T p.T35810I missense 0.00000844●●●●●●
13100. 179392404 c.107449T>C p.S35817P missense 0.00001666●●●●●●
13101. 179392403 c.107450C>T p.S35817L missense 0.00003332●●●●●●
13102. 179392392 c.107461G>T p.V35821F missense 0.00000831●●●●●●
13103. 179392374 c.107479A>C p.K35827Q missense 0.00000830●●●●●●
13104. 179392337 c.107516G>A p.S35839N missense 0.00001659●●●●●●
13105. 179392336 c.107517T>G p.S35839R missense 0.00002488●●●●●●
13106. 179392332 c.107521A>C p.S35841R missense 0.00000829●●●●●●
13107. 179392325 c.107528T>C p.M35843T missense 0.00000829●●●●●●
13108. 179392277 c.107576T>C p.M35859T missense 0.00224486●●●●●●
13109. 179392276 c.107577G>C p.M35859I missense 0.00000828●●●●●●
13110. 179392263 c.107590G>C p.V35864L missense 0.00000828●●●●●●
13111. 179392262 c.107591T>C p.V35864A missense 0.00004141●●●●●●
13112. 179392260 c.107593G>A p.E35865K missense 0.00000828●●●●●●
13113. 179392248 c.107605A>G p.S35869G missense 0.00033958●●●●●●
13114. 179392239 c.107614A>G p.M35872V missense 0.00000828●●●●●●
13115. 179392236 c.107617G>C p.G35873R missense 0.00001657●●●●●●
13116. 179392236 c.107617G>A p.G35873R missense 0.00001657●●●●●●
13117. 179392235 c.107618G>A p.G35873E missense 0.00000828●●●●●●
13118. 179392226 c.107627A>G p.N35876S missense 0.00001657●●●●●●
13119. 179392223 c.107630T>C p.M35877T missense 0.00000829●●●●●●
13120. 179392218 c.107635C>T p.Q35879X nonsense 0.00001657●●●●●●
13121. 179392196 c.107657A>G p.K35886R missense 0.00001660●●●●●●
13122. 179392192 c.107661G>A p.M35887I missense 0.00000831●●●●●●
13123. 179392188 c.107665A>C p.K35889Q missense 0.00000832●●●●●●
13124. 179392182 c.107671G>A p.G35891S missense 0.00006674●●●●●●
13125. 179392174 c.107679A>T p.R35893S missense 0.00000840●●●●●●
13126. 179392165 c.107680+8A>G splice site 0.00000846●●●●●●
13127. 179392041 c.107681-7C>T splice site 0.00001778●●●●●●
13128. 179392038 c.107681-4A>C splice site 0.00001771●●●●●●
13129. 179392038 c.107681-4A>G splice site 0.00000885●●●●●●
13130. 179392022 c.107693A>T p.K35898I missense 0.00000874●●●●●●
13131. 179392019 c.107696T>C p.I35899T missense 0.00001743●●●●●●
13132. 179391995 c.107720G>T p.S35907I missense 0.00002572●●●●●●
13133. 179391992 c.107723T>C p.I35908T missense 0.00002565●●●●●●
13134. 179391987 c.107728G>A p.E35910K missense 0.00002561●●●●●●
13135. 179391977 c.107738T>C p.V35913A missense 0.00002549●●●●●●
13136. 179391962 c.107753G>A p.C35918Y missense 0.00010143●●●●●●
13137. 179391962 c.107753G>C p.C35918S missense 0.00000845●●●●●●
13138. 179391953 c.107762C>T p.T35921M missense 0.00000842●●●●●●
13139. 179391945 c.107770C>G p.P35924A missense 0.00000839●●●●●●
13140. 179391942 c.107773A>G p.T35925A missense 0.00002513●●●●●●
13141. 179391941 c.107774C>T p.T35925I missense 0.00002512●●●●●●
13142. 179391936 c.107779G>A p.E35927K missense 0.00000836●●●●●●
13143. 179391932 c.107783T>C p.V35928A missense 0.00000835●●●●●●
13144. 179391932 c.107783T>A p.V35928E missense 0.00002504●●●●●●
13145. 179391921 c.107794T>A p.C35932S missense 0.00000832●●●●●●
13146. 179391899 c.107816G>C p.S35939T missense 0.00002491●●●●●●
13147. 179391894 c.107821G>C p.E35941Q missense 0.00002491●●●●●●
13148. 179391875 c.107840T>A p.I35947N missense 0.00000830●●●●●●
13149. 179391862 c.107853T>A p.D35951E missense 0.00004149●●●●●●
13150. 179391851 c.107864C>A p.T35955N missense 0.00002490●●●●●●
13151. 179391834 c.107881G>T p.V35961L missense 0.00001662●●●●●●
13152. 179391826 c.107889delA frameshift 0.00000832●●●●●●
13153. 179391819 c.107896G>A p.G35966S missense 0.00000833●●●●●●
13154. 179391818 c.107897G>A p.G35966D missense 0.00000833●●●●●●
13155. 179391815 c.107900G>A p.G35967E missense 0.00001667●●●●●●
13156. 179391806 c.107909C>A p.T35970N missense 0.00001672●●●●●●
13157. 179391806 c.107909C>G p.T35970S missense 0.00000836●●●●●●
13158. 179391800 c.107915G>T p.S35972I missense 0.00004193●●●●●●
13159. 179391795 c.107920G>A p.G35974R missense 0.00000842●●●●●●
13160. 179391768 c.107947A>C p.T35983P missense 0.00001738●●●●●●
13161. 179391755 c.107960A>G p.H35987R missense 0.00000902●●●●●●
13162. 179391750 c.107965C>T p.R35989X nonsense 0.00000924●●●●●●
13163. 179391749 c.107966G>A p.R35989Q missense 0.00000935●●●●●●
13164. 179391739 c.107976A>G silent 0.00000988●●●●●●
13165. 0 c.26762-14_26762-10dupTTTGT splice site 0.14286640●●●●●●

* 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.