DSP protein-altering variants in ExAC


The table below lists the DSP protein-altering variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord. Variant (CDS) Variant (Protein) Variant Type ExAC frequencyPopulations*
1. 7542285 c.137G>A p.G46D missense 0.00003814
2. 7558419 c.344A>G p.N115S missense 0.00005766
3. 7569562 c.1563C>A p.D521E missense 0.00000824
4. 7574476 c.2288A>G p.Y763C missense 0.00008269
5. 7575015 c.2423G>A p.R808H missense 0.00000824
6. 7576540 c.2644G>A p.E882K missense 0.00004944
7. 7576579 c.2683T>C p.Y895H missense 0.00009887
8. 7576616 c.2720G>A p.R907H missense 0.00002472
9. 7577261 c.2863G>A p.A955T missense 0.00004280
10. 7579985 c.3562T>C p.Y1188H missense 0.00006715
11. 7580187 c.3764G>A p.R1255K missense 0.00003329
12. 7580197 c.3774C>A p.D1258E missense 0.00002497
13. 7580286 c.3863A>G p.K1288R missense 0.00000830
14. 7580396 c.3973A>C p.K1325Q missense 0.00000830
15. 7580445 c.4022G>A p.R1341H missense 0.00007466
16. 7580540 c.4117A>G p.T1373A missense 0.00009109
17. 7580937 c.4514C>T p.A1505V missense 0.00007491
18. 7580988 c.4565C>T p.T1522M missense 0.00003330
19. 7581309 c.4886G>T p.S1629I missense 0.00006747
20. 7581384 c.4961T>C p.L1654P missense 0.00001667
21. 7581747 c.5324G>T p.R1775I missense 0.00008338
22. 7583008 c.5513G>A p.R1838H missense 0.00005767
23. 7583112 c.5617C>T p.R1873C missense 0.00008239
24. 7583505 c.6010G>T p.V2004F missense 0.00000827
25. 7583814 c.6319G>C p.V2107L missense 0.00009914
26. 7585029 c.7534G>T p.D2512Y missense 0.00000824
27. 7585117 c.7622G>A p.R2541K missense 0.00002471
28. 7585279 c.7784C>T p.T2595I missense 0.00000825
29. 7585347 c.7852C>T p.P2618S missense 0.00003312
30. 7585410 c.7915C>T p.R2639W missense 0.00004146
31. 7585602 c.8107G>A p.G2703R missense 0.00000825
32. 7585669 c.8174G>A p.R2725H missense 0.00000825
33. 7585957 c.8462C>T p.S2821L missense 0.00001656
34. 7585995 c.8500C>T p.R2834C missense 0.00001672
35. 7586026 c.8531G>T p.G2844V missense 0.00000836
36. 7580466 c.4043T>G p.L1348R missense 0.00001659
37. 7542294 c.146C>T p.T49I missense 0.00004074
38. 7559632 c.596G>A p.R199K missense 0.00002474
39. 7562930 c.643G>A p.E215K missense 0.00006589
40. 7565674 c.860A>G p.N287S missense 0.00000824
41. 7566631 c.961G>C p.V321L missense 0.00002480
42. 7567645 c.1103T>C p.I368T missense 0.00007413
43. 7568095 c.1222A>C p.N408H missense 0.00002480
44. 7571644 c.1730T>C p.M577T missense 0.00001650
45. 7571815 c.1901C>G p.T634R missense 0.00000826
46. 7572120 c.1949A>G p.N650S missense 0.00003306
47. 7572134 c.1963A>T p.I655F missense 0.00000825
48. 7572194 c.2023A>G p.I675V missense 0.00002472
49. 7572208 c.2037A>G p.I679M missense 0.00004120
50. 7575559 c.2468C>T p.S823L missense 0.00005766
51. 7575643 c.2552T>A p.L851Q missense 0.00003295
52. 7579705 c.3282G>C p.K1094N missense 0.00001660
53. 7579727 c.3304G>A p.G1102S missense 0.00004154
54. 7579974 c.3551G>A p.R1184Q missense 0.00005887
55. 7580039 c.3616T>A p.L1206I missense 0.00009158
56. 7580379 c.3956C>T p.T1319I missense 0.00001660
57. 7580469 c.4046G>A p.S1349N missense 0.00001659
58. 7580528 c.4105G>A p.E1369K missense 0.00001657
59. 7580996 c.4573A>G p.I1525V missense 0.00001665
60. 7581324 c.4901G>A p.R1634Q missense 0.00008416
61. 7581620 c.5197G>A p.D1733N missense 0.00001653
62. 7581786 c.5363A>G p.Q1788R missense 0.00005925
63. 7582912 c.5417C>G p.T1806S missense 0.00002473
64. 7583317 c.5822A>C p.K1941T missense 0.00001656
65. 7583683 c.6188G>A p.R2063Q missense 0.00000833
66. 7583863 c.6368G>A p.R2123H missense 0.00001653
67. 7583937 c.6442G>A p.A2148T missense 0.00001653
68. 7583974 c.6479G>A p.R2160Q missense 0.00004126
69. 7584006 c.6511A>G p.N2171D missense 0.00000824
70. 7584079 c.6584A>G p.H2195R missense 0.00000824
71. 7585036 c.7541C>T p.S2514F missense 0.00000824
72. 7585197 c.7702G>A p.G2568S missense 0.00002471
73. 7585371 c.7876G>C p.E2626Q missense 0.00001659
74. 7585489 c.7994C>T p.T2665M missense 0.00002486
75. 7585545 c.8050A>G p.M2684V missense 0.00000827
76. 7585668 c.8173C>T p.R2725C missense 0.00004948
77. 7585704 c.8209G>C p.V2737L missense 0.00001650
78. 7585720 c.8225A>G p.H2742R missense 0.00000825
79. 7585770 c.8275C>T p.R2759C missense 0.00000826
80. 7585971 c.8476C>T p.R2826C missense 0.00000834
81. 7586061 c.8566T>A p.S2856T missense 0.00000837
82. 7584534 c.7039A>G p.I2347V missense 0.00002472
83. 7568689 c.1286T>C p.L429P missense 0.00000824
84. 7580124 c.3701A>G p.N1234S missense 0.00009136
85. 7583607 c.6112A>C p.K2038Q missense 0.00001658
86. 7583946 c.6451C>T p.R2151W missense 0.00008262
87. 7542186 c.38C>T p.T13I missense 0.00006508
88. 7542252 c.104G>C p.G35A missense 0.00002714
89. 7555962 c.182C>T p.T61M missense 0.00001651
90. 7562954 c.667G>A p.G223S missense 0.00004942
91. 7565627 c.813G>T p.Q271H missense 0.00000824
92. 7565703 c.889G>A p.D297N missense 0.00008240
93. 7566613 c.943C>T p.R315C missense 0.00007456
94. 7566616 c.946A>G p.M316V missense 0.00002484
95. 7569533 c.1534A>G p.I512V missense 0.00004118
96. 7570725 c.1630A>C p.M544L missense 0.00003295
97. 7574919 c.2327C>G p.A776G missense 0.00000824
98. 7580015 c.3592C>T p.H1198Y missense 0.00000837
99. 7580023 c.3600T>G p.N1200K missense 0.00002506
100. 7580598 c.4175G>A p.R1392Q missense 0.00008266
101. 7581119 c.4696C>G p.L1566V missense 0.00002503
102. 7581396 c.4973C>T p.S1658F missense 0.00000833
103. 7582881 c.5386A>G p.N1796D missense 0.00007438
104. 7584876 c.7381C>T p.L2461F missense 0.00000826
105. 7585216 c.7721G>A p.G2574D missense 0.00000824
106. 7585312 c.7817G>A p.S2606N missense 0.00004957
107. 7585459 c.7964C>G p.A2655G missense 0.00004145
108. 7542284 c.136G>A p.G46S missense 0.00003796
109. 7556039 c.259C>G p.L87V missense 0.00002558
110. 7559557 c.521G>T p.C174F missense 0.00005765
111. 7562952 c.665G>A p.R222Q missense 0.00001647
112. 7562972 c.685G>A p.G229S missense 0.00000824
113. 7565655 c.841A>G p.R281G missense 0.00000824
114. 7565714 c.900C>A p.D300E missense 0.00000824
115. 7565730 c.916G>A p.A306T missense 0.00004944
116. 7568070 c.1197C>G p.I399M missense 0.00001651
117. 7569425 c.1426G>A p.V476M missense 0.00004119
118. 7569486 c.1487C>T p.T496M missense 0.00002471
119. 7569500 c.1501G>A p.V501I missense 0.00005765
120. 7571629 c.1715G>A p.R572Q missense 0.00001650
121. 7571730 c.1816C>T p.R606W missense 0.00002474
122. 7572131 c.1960G>A p.V654I missense 0.00001651
123. 7576594 c.2698A>G p.K900E missense 0.00000824
124. 7577197 c.2799G>C p.L933F missense 0.00007513
125. 7577270 c.2872A>G p.I958V missense 0.00000876
126. 7578716 c.3005G>A p.R1002Q missense 0.00007418
127. 7579554 c.3131C>T p.A1044V missense 0.00000836
128. 7579557 c.3134G>A p.R1045Q missense 0.00004176
129. 7579748 c.3325G>A p.E1109K missense 0.00004157
130. 7580129 c.3706A>G p.R1236G missense 0.00007478
131. 7580174 c.3751G>C p.D1251H missense 0.00000832
132. 7580181 c.3758T>C p.I1253T missense 0.00000832
133. 7580300 c.3877A>G p.I1293V missense 0.00003321
134. 7580342 c.3919G>A p.A1307T missense 0.00001659
135. 7580535 c.4112A>G p.N1371S missense 0.00000828
136. 7580796 c.4373G>A p.R1458Q missense 0.00005793
137. 7581071 c.4648A>T p.T1550S missense 0.00001666
138. 7581136 c.4713G>C p.Q1571H missense 0.00000835
139. 7581216 c.4793T>A p.L1598Q missense 0.00000841
140. 7581486 c.5063C>T p.A1688V missense 0.00002495
141. 7581546 c.5123C>T p.S1708F missense 0.00001659
142. 7583106 c.5611T>G p.Y1871D missense 0.00000824
143. 7583305 c.5810G>A p.R1937K missense 0.00000828
144. 7583376 c.5881G>A p.V1961I missense 0.00003309
145. 7583636 c.6141G>C p.M2047I missense 0.00000831
146. 7583682 c.6187C>G p.R2063G missense 0.00000833
147. 7583728 c.6233T>C p.I2078T missense 0.00003321
148. 7583742 c.6247C>T p.R2083C missense 0.00004146
149. 7583856 c.6361G>A p.G2121R missense 0.00000826
150. 7583862 c.6367C>T p.R2123C missense 0.00001653
151. 7583947 c.6452G>A p.R2151Q missense 0.00000826
152. 7583961 c.6466A>G p.R2156G missense 0.00000825
153. 7584213 c.6718C>G p.Q2240E missense 0.00005772
154. 7584612 c.7117G>A p.A2373T missense 0.00002472
155. 7584657 c.7162G>A p.V2388I missense 0.00001648
156. 7584855 c.7360C>G p.Q2454E missense 0.00000826
157. 7584922 c.7427A>G p.E2476G missense 0.00000825
158. 7585233 c.7738G>T p.D2580Y missense 0.00000824
159. 7585628 c.8133G>T p.E2711D missense 0.00000824
160. 7585667 c.8172G>T p.Q2724H missense 0.00003299
161. 7585804 c.8309A>G p.Y2770C missense 0.00003301
162. 7585825 c.8330C>A p.P2777H missense 0.00001650
163. 7585977 c.8482G>A p.G2828S missense 0.00002503
164. 7585612 c.8117A>T p.K2706M missense 0.00004123
165. 7574952 c.2360A>G p.Y787C missense 0.00008236
166. 7575688 c.2597G>T p.R866L missense 0.00001648
167. 7558382 c.307C>T p.R103W missense 0.00002471
168. 7559460 c.424C>T p.L142F missense 0.00002477
169. 7581140 c.4717G>A p.V1573M missense 0.00000835
170. 7583892 c.6397G>A p.G2133S missense 0.00003306
171. 7559521 c.485G>A p.R162H missense 0.00001647
172. 7562973 c.686G>A p.G229D missense 0.00000824
173. 7563982 c.740C>T p.A247V missense 0.00003295
174. 7571731 c.1817G>A p.R606Q missense 0.00003298
175. 7572252 c.2081C>T p.A694V missense 0.00001648
176. 7572254 c.2083G>C p.D695H missense 0.00000824
177. 7574383 c.2195A>C p.N732T missense 0.00000824
178. 7574937 c.2345A>G p.D782G missense 0.00005765
179. 7575541 c.2450A>T p.D817V missense 0.00000824
180. 7575700 c.2609T>C p.I870T missense 0.00000824
181. 7575714 c.2623G>A p.D875N missense 0.00000824
182. 7579695 c.3272A>G p.K1091R missense 0.00000830
183. 7579925 c.3502G>A p.E1168K missense 0.00001677
184. 7580444 c.4021C>T p.R1341C missense 0.00000830
185. 7580494 c.4071G>C p.E1357D missense 0.00004975
186. 7580847 c.4424C>T p.T1475I missense 0.00000830
187. 7581089 c.4666A>G p.I1556V missense 0.00002501
188. 7581338 c.4915G>A p.V1639M missense 0.00006704
189. 7583017 c.5522C>T p.S1841L missense 0.00004119
190. 7583407 c.5912T>C p.L1971P missense 0.00000826
191. 7583800 c.6305G>T p.G2102V missense 0.00001653
192. 7583835 c.6340A>G p.N2114D missense 0.00000826
193. 7584067 c.6572G>A p.R2191K missense 0.00000824
194. 7584228 c.6733G>A p.E2245K missense 0.00000825
195. 7585252 c.7757G>A p.R2586Q missense 0.00000824
196. 7585342 c.7847C>T p.S2616L missense 0.00000828
197. 7585530 c.8035G>A p.V2679M missense 0.00000827
198. 7585972 c.8477G>A p.R2826H missense 0.00000834
199. 7580346 c.3923G>C p.R1308P missense 0.00001660
200. 7583550 c.6055G>T p.A2019S missense 0.00002484
201. 7542150 c.2T>G p.Met1? missense 0.00001185
202. 7542159 c.11A>G p.N4S missense 0.00002374
203. 7542194 c.46C>T p.R16C missense 0.00001402
204. 7542194 c.46C>A p.R16S missense 0.00005609
205. 7542203 c.55C>T p.R19C missense 0.00006007
206. 7542209 c.61G>A p.E21K missense 0.00003129
207. 7542211 c.63G>T p.E21D missense 0.00001609
208. 7542227 c.79C>T p.R27C missense 0.00003739
209. 7542230 c.82T>G p.Y28D missense 0.00001911
210. 7542239 c.91A>G p.T31A missense 0.00002168
211. 7542255 c.107G>T p.G36V missense 0.00002863
212. 7542255 c.107G>C p.G36A missense 0.00002863
213. 7542263 c.115A>G p.R39G missense 0.00003020
214. 7542279 c.131G>C p.R44P missense 0.00003694
215. 7542305 c.157T>C p.S53P missense 0.00004444
216. 7555968 c.188C>G p.S63C missense 0.00000825
217. 7555974 c.194A>T p.H65L missense 0.00000825
218. 7556015 c.235T>C p.S79P missense 0.00000828
219. 7556033 c.253G>A p.A85T missense 0.00000841
220. 7556036 c.256G>C p.E86Q missense 0.00001695
221. 7556045 c.265G>A p.V89M missense 0.00000869
222. 7556051 c.271C>G p.P91A missense 0.00001764
223. 7558359 c.284A>G p.Y95C missense 0.00002471
224. 7558362 c.287G>C p.G96A missense 0.00000824
225. 7558366 c.291T>G p.D97E missense 0.00000824
226. 7558374 c.299A>T p.Q100L missense 0.00000824
227. 7558375 c.300A>T p.Q100H missense 0.00004118
228. 7558379 c.304A>C p.T102P missense 0.00000824
229. 7558382 c.307C>G p.R103G missense 0.00001647
230. 7558383 c.308G>A p.R103Q missense 0.00000824
231. 7558389 c.314G>A p.R105Q missense 0.00004118
232. 7558409 c.334G>T p.A112S missense 0.00000824
233. 7558415 c.340G>A p.A114T missense 0.00003295
234. 7558428 c.353T>C p.M118T missense 0.00000824
235. 7558439 c.364G>A p.D122N missense 0.00000824
236. 7558460 c.385C>T p.R129W missense 0.00001655
237. 7558461 c.386G>A p.R129Q missense 0.00000828
238. 7558483 c.408T>G p.D136E missense 0.00001716
239. 7559459 c.423G>C p.R141S missense 0.00000826
240. 7559464 c.428T>C p.L143P missense 0.00000825
241. 7559467 c.431A>C p.Q144P missense 0.00000825
242. 7559481 c.445A>T p.M149L missense 0.00000824
243. 7559485 c.449G>A p.R150Q missense 0.00002471
244. 7559502 c.466A>C p.I156L missense 0.00000824
245. 7559502 c.466A>G p.I156V missense 0.00000824
246. 7559503 c.467T>A p.I156N missense 0.00001647
247. 7559515 c.479G>A p.R160Q missense 0.00002471
248. 7559520 c.484C>G p.R162G missense 0.00002471
249. 7559520 c.484C>T p.R162C missense 0.00002471
250. 7559521 c.485G>T p.R162L missense 0.00000824
251. 7559527 c.491C>T p.A164V missense 0.00000824
252. 7559539 c.503G>C p.G168A missense 0.00000824
253. 7559544 c.508G>A p.G170R missense 0.00001647
254. 7559554 c.518C>T p.T173I missense 0.00000824
255. 7559557 c.521G>A p.C174Y missense 0.00000824
256. 7559571 c.535G>A p.G179S missense 0.00001647
257. 7559576 c.540G>C p.W180C missense 0.00000824
258. 7559589 c.553A>G p.K185E missense 0.00001647
259. 7559590 c.554A>G p.K185R missense 0.00000824
260. 7559601 c.565A>G p.S189G missense 0.00000824
261. 7559608 c.572G>A p.C191Y missense 0.00000824
262. 7559611 c.575T>C p.L192S missense 0.00000824
263. 7559614 c.578G>C p.G193A missense 0.00000824
264. 7559619 c.583A>G p.M195V missense 0.00001648
265. 7559622 c.586A>G p.R196G missense 0.00000824
266. 7562912 c.625G>A p.V209M missense 0.00000824
267. 7562927 c.640G>A p.V214M missense 0.00000824
268. 7562952 c.665G>C p.R222P missense 0.00000824
269. 7562957 c.670A>G p.I224V missense 0.00000824
270. 7562972 c.685G>T p.G229C missense 0.00000824
271. 7562979 c.692A>G p.Y231C missense 0.00001647
272. 7562981 c.694C>T p.R232C missense 0.00000824
273. 7562982 c.695G>A p.R232H missense 0.00000824
274. 7563970 c.728G>A p.R243H missense 0.00000824
275. 7565636 c.822C>G p.N274K missense 0.00000824
276. 7565664 c.850A>G p.M284V missense 0.00000824
277. 7565676 c.862G>A p.D288N missense 0.00002472
278. 7565712 c.898G>A p.D300N missense 0.00000824
279. 7565725 c.911A>T p.N304I missense 0.00000824
280. 7565727 c.913A>G p.I305V missense 0.00000824
281. 7566614 c.944G>T p.R315L missense 0.00002485
282. 7566614 c.944G>A p.R315H missense 0.00000828
283. 7566635 c.965A>G p.K322R missense 0.00000826
284. 7566640 c.970A>C p.K324Q missense 0.00000826
285. 7566644 c.974A>G p.E325G missense 0.00000826
286. 7566662 c.992A>G p.Q331R missense 0.00000826
287. 7566662 c.992A>C p.Q331P missense 0.00000826
288. 7566667 c.997A>G p.S333G missense 0.00000826
289. 7566668 c.998G>A p.S333N missense 0.00000826
290. 7566672 c.1002C>A p.D334E missense 0.00001652
291. 7566676 c.1006C>T p.L336F missense 0.00000826
292. 7566680 c.1010T>C p.V337A missense 0.00000826
293. 7566682 c.1012C>T p.L338F missense 0.00000826
294. 7566686 c.1016A>G p.N339S missense 0.00001653
295. 7566704 c.1034A>G p.D345G missense 0.00003311
296. 7566710 c.1040T>C p.I347T missense 0.00000829
297. 7567609 c.1067C>T p.T356M missense 0.00000824
298. 7567631 c.1089G>C p.Q363H missense 0.00000824
299. 7567636 c.1094C>T p.T365I missense 0.00000824
300. 7567648 c.1106A>T p.D369V missense 0.00000824
301. 7567677 c.1135T>A p.F379I missense 0.00000824
302. 7568026 c.1153G>T p.A385S missense 0.00002474
303. 7568031 c.1158G>T p.Q386H missense 0.00000825
304. 7568033 c.1160C>T p.S387F missense 0.00000825
305. 7568035 c.1162A>G p.T388A missense 0.00000825
306. 7568053 c.1180G>A p.G394R missense 0.00000825
307. 7568066 c.1193C>T p.S398F missense 0.00000825
308. 7568097 c.1224C>A p.N408K missense 0.00000827
309. 7568105 c.1232T>C p.L411P missense 0.00000827
310. 7568110 c.1237C>T p.H413Y missense 0.00000828
311. 7568127 c.1254C>G p.I418M missense 0.00000830
312. 7568134 c.1261C>G p.L421V missense 0.00000831
313. 7568135 c.1262T>C p.L421P missense 0.00000831
314. 7568677 c.1274G>A p.R425Q missense 0.00002472
315. 7568679 c.1276G>A p.E426K missense 0.00000824
316. 7568686 c.1283T>A p.I428N missense 0.00000824
317. 7568691 c.1288G>A p.E430K missense 0.00000824
318. 7568700 c.1297C>T p.R433C missense 0.00001648
319. 7568701 c.1298G>A p.R433H missense 0.00002471
320. 7568727 c.1324T>G p.S442A missense 0.00002471
321. 7568752 c.1349C>T p.P450L missense 0.00001648
322. 7568765 c.1362C>A p.D454E missense 0.00000824
323. 7568781 c.1378C>G p.P460A missense 0.00000824
324. 7568782 c.1379C>T p.P460L missense 0.00000824
325. 7568815 c.1412A>G p.Q471R missense 0.00000825
326. 7568821 c.1418A>G p.Q473R missense 0.00004124
327. 7569425 c.1426G>T p.V476L missense 0.00000824
328. 7569443 c.1444T>G p.C482G missense 0.00001647
329. 7569467 c.1468C>T p.R490C missense 0.00004118
330. 7569468 c.1469G>A p.R490H missense 0.00004118
331. 7569492 c.1493C>T p.P498L missense 0.00002471
332. 7569498 c.1499G>A p.G500D missense 0.00000824
333. 7569503 c.1504G>A p.D502N missense 0.00000824
334. 7569508 c.1509G>T p.M503I missense 0.00000824
335. 7569521 c.1522G>A p.V508M missense 0.00000824
336. 7569539 c.1540C>T p.P514S missense 0.00000824
337. 7569557 c.1558G>A p.V520M missense 0.00001647
338. 7569561 c.1562A>C p.D521A missense 0.00002471
339. 7570698 c.1603G>T p.A535S missense 0.00000824
340. 7570726 c.1631T>C p.M544T missense 0.00000824
341. 7570758 c.1663A>T p.I555F missense 0.00000824
342. 7570766 c.1671A>G p.I557M missense 0.00000824
343. 7570767 c.1672G>C p.E558Q missense 0.00001647
344. 7570780 c.1685C>T p.A562V missense 0.00000824
345. 7571623 c.1709C>T p.T570I missense 0.00001650
346. 7571643 c.1729A>C p.M577L missense 0.00000825
347. 7571646 c.1732A>C p.K578Q missense 0.00000825
348. 7571650 c.1736C>T p.T579M missense 0.00000825
349. 7571652 c.1738A>G p.I580V missense 0.00000825
350. 7571658 c.1744G>A p.D582N missense 0.00000825
351. 7571664 c.1750G>A p.E584K missense 0.00000825
352. 7571695 c.1781G>T p.S594I missense 0.00000825
353. 7571721 c.1807G>C p.D603H missense 0.00000825
354. 7571738 c.1824A>G p.I608M missense 0.00000825
355. 7571754 c.1840G>A p.D614N missense 0.00003298
356. 7571766 c.1852C>T p.H618Y missense 0.00000825
357. 7571815 c.1901C>A p.T634K missense 0.00000826
358. 7572117 c.1946T>C p.V649A missense 0.00000827
359. 7572121 c.1950C>A p.N650K missense 0.00000826
360. 7572126 c.1955A>G p.N652S missense 0.00000826
361. 7572137 c.1966G>A p.E656K missense 0.00000825
362. 7572144 c.1973A>G p.N658S missense 0.00000825
363. 7572159 c.1988A>G p.K663R missense 0.00001649
364. 7572167 c.1996A>G p.T666A missense 0.00000824
365. 7572171 c.2000G>C p.W667S missense 0.00001649
366. 7572173 c.2002A>G p.M668V missense 0.00000824
367. 7572174 c.2003T>C p.M668T missense 0.00000824
368. 7572179 c.2008A>G p.M670V missense 0.00000824
369. 7572184 c.2013G>C p.E671D missense 0.00000824
370. 7572189 c.2018A>C p.Q673P missense 0.00004945
371. 7572194 c.2023A>T p.I675F missense 0.00000824
372. 7572197 c.2026C>T p.R676C missense 0.00001648
373. 7572198 c.2027G>A p.R676H missense 0.00001648
374. 7572201 c.2030G>A p.R677K missense 0.00002472
375. 7572212 c.2041C>G p.H681D missense 0.00000824
376. 7572213 c.2042A>G p.H681R missense 0.00000824
377. 7572218 c.2047G>A p.E683K missense 0.00001648
378. 7572245 c.2074C>G p.P692A missense 0.00000824
379. 7572277 c.2106C>G p.I702M missense 0.00000830
380. 7572290 c.2119A>G p.N707D missense 0.00000840
381. 7572293 c.2122G>A p.E708K missense 0.00000843
382. 7574322 c.2134G>A p.V712M missense 0.00000825
383. 7574341 c.2153C>T p.A718V missense 0.00000824
384. 7574344 c.2156T>C p.I719T missense 0.00000824
385. 7574359 c.2171A>C p.N724T missense 0.00000824
386. 7574372 c.2184T>A p.D728E missense 0.00002472
387. 7574374 c.2186T>G p.M729R missense 0.00000824
388. 7574379 c.2191G>A p.A731T missense 0.00000824
389. 7574382 c.2194A>G p.N732D missense 0.00005769
390. 7574407 c.2219G>C p.C740S missense 0.00001649
391. 7574410 c.2222A>G p.Y741C missense 0.00000824
392. 7574443 c.2255A>T p.K752I missense 0.00000825
393. 7574448 c.2260G>A p.E754K missense 0.00001651
394. 7574463 c.2275G>A p.V759I missense 0.00000826
395. 7574467 c.2279C>T p.T760I missense 0.00000826
396. 7574906 c.2314G>A p.A772T missense 0.00000824
397. 7574907 c.2315C>A p.A772E missense 0.00000824
398. 7574921 c.2329A>G p.I777V missense 0.00000824
399. 7574960 c.2368A>G p.R790G missense 0.00000824
400. 7574969 c.2377G>A p.E793K missense 0.00000824
401. 7574978 c.2386A>G p.T796A missense 0.00001647
402. 7574996 c.2404G>A p.D802N missense 0.00000824
403. 7575534 c.2443A>G p.K815E missense 0.00001650
404. 7575547 c.2456A>G p.N819S missense 0.00000824
405. 7575571 c.2480C>A p.T827N missense 0.00000824
406. 7575616 c.2525C>G p.T842S missense 0.00000824
407. 7575628 c.2537A>G p.Y846C missense 0.00000824
408. 7575631 c.2540C>T p.P847L missense 0.00000824
409. 7575631 c.2540C>G p.P847R missense 0.00003295
410. 7575634 c.2543T>C p.L848P missense 0.00000824
411. 7575657 c.2566T>C p.F856L missense 0.00000824
412. 7575660 c.2569G>A p.G857S missense 0.00004118
413. 7575669 c.2578G>A p.V860I missense 0.00001647
414. 7575675 c.2584C>G p.Q862E missense 0.00000824
415. 7575675 c.2584C>A p.Q862K missense 0.00000824
416. 7575688 c.2597G>A p.R866H missense 0.00000824
417. 7575698 c.2607G>C p.R869S missense 0.00000824
418. 7575713 c.2622C>G p.I874M missense 0.00004121
419. 7576562 c.2666G>A p.R889K missense 0.00006591
420. 7576570 c.2674C>T p.R892C missense 0.00000824
421. 7576571 c.2675G>A p.R892H missense 0.00003296
422. 7576574 c.2678A>C p.D893A missense 0.00000824
423. 7576580 c.2684A>C p.Y895S missense 0.00000824
424. 7576586 c.2690C>T p.A897V missense 0.00000824
425. 7576604 c.2708A>G p.Y903C missense 0.00000824
426. 7576615 c.2719C>T p.R907C missense 0.00000824
427. 7576619 c.2723G>T p.R908L missense 0.00000824
428. 7576624 c.2728G>T p.D910Y missense 0.00000824
429. 7576628 c.2732C>T p.S911F missense 0.00000824
430. 7576631 c.2735T>C p.L912S missense 0.00003296
431. 7576640 c.2744T>A p.M915K missense 0.00000824
432. 7576642 c.2746A>G p.K916E missense 0.00000824
433. 7576659 c.2763C>G p.N921K missense 0.00000824
434. 7576667 c.2771T>C p.M924T missense 0.00003298
435. 7577192 c.2794A>G p.N932D missense 0.00001675
436. 7577220 c.2822G>A p.R941Q missense 0.00000830
437. 7577238 c.2840T>C p.V947A missense 0.00001661
438. 7577241 c.2843A>C p.Q948P missense 0.00000831
439. 7577246 c.2848A>G p.I950V missense 0.00001664
440. 7577247 c.2849T>A p.I950N missense 0.00000834
441. 7577248 c.2850T>G p.I950M missense 0.00000834
442. 7577252 c.2854G>A p.E952K missense 0.00000834
443. 7577256 c.2858T>C p.L953P missense 0.00001675
444. 7577258 c.2860T>C p.C954R missense 0.00000838
445. 7577259 c.2861G>A p.C954Y missense 0.00000838
446. 7578021 c.2887C>T p.L963F missense 0.00000824
447. 7578066 c.2932A>G p.I978V missense 0.00000824
448. 7578075 c.2941A>G p.K981E missense 0.00002471
449. 7578093 c.2959T>A p.S987T missense 0.00004119
450. 7578096 c.2962C>T p.P988S missense 0.00000824
451. 7578100 c.2966C>T p.S989F missense 0.00000824
452. 7578111 c.2977C>G p.L993V missense 0.00000824
453. 7578116 c.2982A>C p.Q994H missense 0.00000824
454. 7578704 c.2993A>T p.D998V missense 0.00000825
455. 7578705 c.2994T>G p.D998E missense 0.00000825
456. 7578710 c.2999A>G p.H1000R missense 0.00000824
457. 7578715 c.3004C>T p.R1002W missense 0.00004121
458. 7578716 c.3005G>C p.R1002P missense 0.00000824
459. 7578749 c.3038A>G p.Y1013C missense 0.00000824
460. 7578769 c.3058A>T p.M1020L missense 0.00000824
461. 7578770 c.3059T>C p.M1020T missense 0.00000824
462. 7578778 c.3067A>C p.S1023R missense 0.00000824
463. 7579526 c.3103G>C p.E1035Q missense 0.00001696
464. 7579560 c.3137A>T p.D1046V missense 0.00001669
465. 7579560 c.3137A>G p.D1046G missense 0.00000834
466. 7579569 c.3146C>T p.S1049L missense 0.00005836
467. 7579569 c.3146C>G p.S1049W missense 0.00000834
468. 7579590 c.3167A>G p.K1056R missense 0.00002497
469. 7579644 c.3221C>T p.A1074V missense 0.00000831
470. 7579649 c.3226C>T p.L1076F missense 0.00002491
471. 7579698 c.3275C>T p.S1092L missense 0.00008302
472. 7579721 c.3298T>C p.C1100R missense 0.00000830
473. 7579746 c.3323A>G p.N1108S missense 0.00002494
474. 7579760 c.3337C>G p.R1113G missense 0.00000832
475. 7579761 c.3338G>A p.R1113Q missense 0.00004991
476. 7579766 c.3343A>G p.T1115A missense 0.00001664
477. 7579770 c.3347A>T p.Y1116F missense 0.00000832
478. 7579796 c.3373A>G p.R1125G missense 0.00000832
479. 7579811 c.3388G>A p.D1130N missense 0.00002497
480. 7579816 c.3393A>T p.R1131S missense 0.00000832
481. 7579827 c.3404A>C p.Q1135P missense 0.00000832
482. 7579879 c.3456C>A p.N1152K missense 0.00000835
483. 7579896 c.3473T>C p.L1158S missense 0.00000836
484. 7579926 c.3503A>G p.E1168G missense 0.00000838
485. 7579935 c.3512T>C p.I1171T missense 0.00000839
486. 7579953 c.3530T>A p.L1177Q missense 0.00003359
487. 7579973 c.3550C>T p.R1184W missense 0.00000842
488. 7579996 c.3573G>C p.E1191D missense 0.00001678
489. 7580024 c.3601G>A p.E1201K missense 0.00000835
490. 7580032 c.3609G>A p.M1203I missense 0.00000834
491. 7580033 c.3610A>G p.S1204G missense 0.00000833
492. 7580067 c.3644A>G p.N1215S missense 0.00000829
493. 7580072 c.3649A>T p.T1217S missense 0.00000829
494. 7580077 c.3654G>C p.K1218N missense 0.00001659
495. 7580078 c.3655A>G p.T1219A missense 0.00000829
496. 7580099 c.3676A>G p.M1226V missense 0.00000830
497. 7580108 c.3685G>A p.E1229K missense 0.00000830
498. 7580135 c.3712C>A p.Q1238K missense 0.00000831
499. 7580138 c.3715C>T p.L1239F missense 0.00000832
500. 7580183 c.3760G>A p.V1254I missense 0.00003329
501. 7580187 c.3764G>C p.R1255T missense 0.00001665
502. 7580189 c.3766C>T p.L1256F missense 0.00002496
503. 7580198 c.3775A>G p.S1259G missense 0.00000832
504. 7580220 c.3797A>G p.Q1266R missense 0.00000832
505. 7580223 c.3800G>A p.R1267Q missense 0.00002496
506. 7580231 c.3808G>A p.A1270T missense 0.00000832
507. 7580258 c.3835G>A p.A1279T missense 0.00000831
508. 7580259 c.3836C>T p.A1279V missense 0.00009142
509. 7580265 c.3842G>C p.G1281A missense 0.00000831
510. 7580268 c.3845C>G p.S1282C missense 0.00000831
511. 7580271 c.3848A>C p.E1283A missense 0.00001662
512. 7580301 c.3878T>C p.I1293T missense 0.00001660
513. 7580302 c.3879A>G p.I1293M missense 0.00000830
514. 7580327 c.3904C>T p.R1302C missense 0.00001660
515. 7580328 c.3905G>A p.R1302H missense 0.00002490
516. 7580335 c.3912G>C p.E1304D missense 0.00000830
517. 7580338 c.3915C>G p.D1305E missense 0.00000830
518. 7580379 c.3956C>G p.T1319S missense 0.00005810
519. 7580394 c.3971A>T p.N1324I missense 0.00000830
520. 7580405 c.3982G>A p.E1328K missense 0.00000830
521. 7580418 c.3995C>T p.A1332V missense 0.00002488
522. 7580441 c.4018C>T p.R1340C missense 0.00008295
523. 7580441 c.4018C>G p.R1340G missense 0.00000830
524. 7580441 c.4018C>A p.R1340S missense 0.00000830
525. 7580442 c.4019G>A p.R1340H missense 0.00003318
526. 7580460 c.4037A>G p.N1346S missense 0.00000829
527. 7580478 c.4055G>A p.R1352K missense 0.00000829
528. 7580481 c.4058A>G p.N1353S missense 0.00000829
529. 7580484 c.4061A>G p.N1354S missense 0.00001658
530. 7580525 c.4102A>G p.T1368A missense 0.00002486
531. 7580541 c.4118C>T p.T1373I missense 0.00000828
532. 7580562 c.4139T>G p.L1380R missense 0.00000827
533. 7580565 c.4142C>G p.T1381S missense 0.00001654
534. 7580589 c.4166G>T p.S1389I missense 0.00001653
535. 7580598 c.4175G>C p.R1392P missense 0.00000827
536. 7580601 c.4178C>A p.A1393D missense 0.00000827
537. 7580613 c.4190A>G p.N1397S missense 0.00001653
538. 7580624 c.4201G>C p.E1401Q missense 0.00000827
539. 7580656 c.4233G>C p.R1411S missense 0.00003306
540. 7580675 c.4252C>G p.Q1418E missense 0.00000826
541. 7580697 c.4274G>A p.R1425K missense 0.00001651
542. 7580726 c.4303G>C p.A1435P missense 0.00000825
543. 7580729 c.4306A>G p.T1436A missense 0.00000825
544. 7580808 c.4385G>T p.S1462I missense 0.00006626
545. 7580828 c.4405C>T p.L1469F missense 0.00001658
546. 7580837 c.4414G>T p.A1472S missense 0.00003318
547. 7580844 c.4421A>G p.K1474R missense 0.00000830
548. 7580856 c.4433A>G p.D1478G missense 0.00000830
549. 7580871 c.4448T>C p.I1483T missense 0.00000831
550. 7580880 c.4457T>C p.L1486S missense 0.00001663
551. 7580889 c.4466T>G p.L1489R missense 0.00000831
552. 7580894 c.4471G>A p.D1491N missense 0.00002495
553. 7580895 c.4472A>G p.D1491G missense 0.00000832
554. 7580895 c.4472A>T p.D1491V missense 0.00000832
555. 7580901 c.4478A>C p.E1493A missense 0.00001663
556. 7580910 c.4487A>T p.D1496V missense 0.00001664
557. 7580910 c.4487A>G p.D1496G missense 0.00000832
558. 7580913 c.4490G>A p.R1497Q missense 0.00009986
559. 7580957 c.4534T>C p.Y1512H missense 0.00000832
560. 7580981 c.4558A>T p.S1520C missense 0.00004994
561. 7580981 c.4558A>G p.S1520G missense 0.00005826
562. 7581027 c.4604T>A p.L1535Q missense 0.00000833
563. 7581033 c.4610G>A p.R1537H missense 0.00003331
564. 7581039 c.4616G>C p.R1539T missense 0.00000833
565. 7581044 c.4621G>A p.D1541N missense 0.00000833
566. 7581055 c.4632G>T p.R1544S missense 0.00000833
567. 7581056 c.4633G>A p.V1545I missense 0.00000833
568. 7581057 c.4634T>C p.V1545A missense 0.00000833
569. 7581063 c.4640A>C p.Q1547P missense 0.00000833
570. 7581080 c.4657G>A p.D1553N missense 0.00002500
571. 7581093 c.4670C>T p.T1557M missense 0.00000834
572. 7581096 c.4673G>A p.R1558Q missense 0.00003336
573. 7581158 c.4735C>T p.R1579W missense 0.00000836
574. 7581159 c.4736G>A p.R1579Q missense 0.00000836
575. 7581171 c.4748C>G p.T1583S missense 0.00000838
576. 7581173 c.4750G>C p.A1584P missense 0.00000838
577. 7581174 c.4751C>T p.A1584V missense 0.00000838
578. 7581177 c.4754C>T p.S1585L missense 0.00000839
579. 7581213 c.4790A>C p.E1597A missense 0.00000841
580. 7581228 c.4805G>A p.R1602K missense 0.00000843
581. 7581234 c.4811C>T p.S1604L missense 0.00000844
582. 7581242 c.4819G>A p.E1607K missense 0.00000844
583. 7581290 c.4867T>C p.S1623P missense 0.00000845
584. 7581294 c.4871T>C p.I1624T missense 0.00001689
585. 7581302 c.4879A>G p.K1627E missense 0.00000844
586. 7581304 c.4881G>T p.K1627N missense 0.00001688
587. 7581317 c.4894G>C p.D1632H missense 0.00000842
588. 7581317 c.4894G>A p.D1632N missense 0.00000842
589. 7581324 c.4901G>T p.R1634L missense 0.00001683
590. 7581345 c.4922A>G p.D1641G missense 0.00000836
591. 7581360 c.4937A>G p.E1646G missense 0.00001670
592. 7581414 c.4991T>G p.L1664R missense 0.00002497
593. 7581416 c.4993A>G p.R1665G missense 0.00000832
594. 7581419 c.4996C>T p.R1666W missense 0.00006658
595. 7581420 c.4997G>A p.R1666Q missense 0.00003329
596. 7581429 c.5006T>A p.L1669H missense 0.00000832
597. 7581433 c.5010G>C p.Q1670H missense 0.00000832
598. 7581442 c.5019A>T p.E1673D missense 0.00000832
599. 7581458 c.5035C>T p.H1679Y missense 0.00000832
600. 7581470 c.5047G>A p.E1683K missense 0.00000832
601. 7581484 c.5061G>C p.K1687N missense 0.00000832
602. 7581485 c.5062G>A p.A1688T missense 0.00005822
603. 7581494 c.5071G>A p.D1691N missense 0.00000832
604. 7581543 c.5120A>G p.Q1707R missense 0.00000830
605. 7581546 c.5123C>G p.S1708C missense 0.00000829
606. 7581561 c.5138T>C p.L1713P missense 0.00000829
607. 7581582 c.5159T>C p.L1720S missense 0.00000828
608. 7581603 c.5180T>C p.L1727P missense 0.00000827
609. 7581606 c.5183G>A p.R1728K missense 0.00003307
610. 7581617 c.5194G>A p.D1732N missense 0.00001653
611. 7581644 c.5221G>A p.A1741T missense 0.00007431
612. 7581645 c.5222C>T p.A1741V missense 0.00008256
613. 7581670 c.5247C>G p.I1749M missense 0.00000826
614. 7581680 c.5257A>T p.R1753W missense 0.00000826
615. 7581684 c.5261G>A p.S1754N missense 0.00000826
616. 7581708 c.5285G>A p.R1762Q missense 0.00001655
617. 7581713 c.5290C>G p.L1764V missense 0.00000828
618. 7581714 c.5291T>A p.L1764Q missense 0.00000828
619. 7581714 c.5291T>C p.L1764P missense 0.00000828
620. 7581732 c.5309T>C p.I1770T missense 0.00000831
621. 7582878 c.5383T>A p.S1795T missense 0.00000827
622. 7582885 c.5390G>C p.R1797T missense 0.00000826
623. 7582890 c.5395C>G p.Q1799E missense 0.00000825
624. 7582907 c.5412G>T p.Q1804H missense 0.00003297
625. 7582908 c.5413T>G p.C1805G missense 0.00000824
626. 7582909 c.5414G>A p.C1805Y missense 0.00003297
627. 7582974 c.5479G>A p.A1827T missense 0.00000824
628. 7582980 c.5485C>G p.L1829V missense 0.00000824
629. 7582993 c.5498A>G p.E1833G missense 0.00006610
630. 7583081 c.5586T>G p.N1862K missense 0.00000824
631. 7583089 c.5594A>G p.N1865S missense 0.00000824
632. 7583093 c.5598G>C p.Q1866H missense 0.00000824
633. 7583104 c.5609A>G p.Q1870R missense 0.00000824
634. 7583113 c.5618G>A p.R1873H missense 0.00004120
635. 7583151 c.5656G>C p.E1886Q missense 0.00000825
636. 7583163 c.5668A>G p.R1890G missense 0.00001650
637. 7583164 c.5669G>C p.R1890T missense 0.00000825
638. 7583164 c.5669G>A p.R1890K missense 0.00000825
639. 7583182 c.5687G>C p.R1896T missense 0.00000826
640. 7583193 c.5698G>A p.E1900K missense 0.00001652
641. 7583216 c.5721G>C p.K1907N missense 0.00001653
642. 7583217 c.5722A>G p.R1908G missense 0.00000826
643. 7583221 c.5726T>C p.I1909T missense 0.00000826
644. 7583289 c.5794C>T p.R1932C missense 0.00004139
645. 7583290 c.5795G>A p.R1932H missense 0.00002483
646. 7583299 c.5804A>G p.Y1935C missense 0.00000828
647. 7583303 c.5808G>C p.Q1936H missense 0.00000828
648. 7583329 c.5834G>A p.R1945H missense 0.00000828
649. 7583334 c.5839T>C p.Y1947H missense 0.00000828
650. 7583359 c.5864C>T p.T1955I missense 0.00000828
651. 7583377 c.5882T>G p.V1961G missense 0.00001654
652. 7583394 c.5899G>A p.V1967M missense 0.00000827
653. 7583416 c.5921A>T p.K1974M missense 0.00000826
654. 7583427 c.5932A>G p.M1978V missense 0.00000826
655. 7583430 c.5935C>G p.Q1979E missense 0.00000825
656. 7583446 c.5951A>T p.Q1984L missense 0.00000825
657. 7583453 c.5958C>G p.I1986M missense 0.00000825
658. 7583454 c.5959G>A p.D1987N missense 0.00002476
659. 7583458 c.5963A>G p.K1988R missense 0.00000825
660. 7583467 c.5972T>C p.L1991S missense 0.00001651
661. 7583471 c.5976C>A p.D1992E missense 0.00001652
662. 7583509 c.6014C>T p.A2005V missense 0.00000827
663. 7583523 c.6028C>T p.P2010S missense 0.00001655
664. 7583529 c.6034C>T p.L2012F missense 0.00000828
665. 7583532 c.6037C>T p.R2013W missense 0.00001655
666. 7583542 c.6047G>A p.G2016E missense 0.00000828
667. 7583550 c.6055G>A p.A2019T missense 0.00000828
668. 7583557 c.6062C>G p.A2021G missense 0.00000828
669. 7583557 c.6062C>A p.A2021E missense 0.00000828
670. 7583562 c.6067G>T p.A2023S missense 0.00000828
671. 7583563 c.6068C>G p.A2023G missense 0.00000828
672. 7583566 c.6071C>T p.S2024F missense 0.00000828
673. 7583574 c.6079G>A p.E2027K missense 0.00000828
674. 7583580 c.6085T>A p.Y2029N missense 0.00000829
675. 7583581 c.6086A>G p.Y2029C missense 0.00000829
676. 7583587 c.6092T>C p.L2031S missense 0.00001658
677. 7583592 c.6097G>A p.E2033K missense 0.00000829
678. 7583612 c.6117A>T p.L2039F missense 0.00000830
679. 7583614 c.6119T>G p.I2040S missense 0.00000830
680. 7583632 c.6137T>G p.V2046G missense 0.00000831
681. 7583682 c.6187C>T p.R2063W missense 0.00000833
682. 7583700 c.6205G>A p.V2069I missense 0.00000832
683. 7583718 c.6223C>T p.R2075W missense 0.00002494
684. 7583719 c.6224G>A p.R2075Q missense 0.00000831
685. 7583724 c.6229C>G p.L2077V missense 0.00000830
686. 7583736 c.6241G>A p.D2081N missense 0.00000830
687. 7583743 c.6248G>A p.R2083H missense 0.00000829
688. 7583754 c.6259T>C p.Y2087H missense 0.00000828
689. 7583757 c.6262G>T p.A2088S missense 0.00000828
690. 7583764 c.6269A>G p.E2090G missense 0.00001655
691. 7583785 c.6290A>G p.D2097G missense 0.00000827
692. 7583840 c.6345G>T p.L2115F missense 0.00007437
693. 7583841 c.6346A>G p.I2116V missense 0.00000826
694. 7583862 c.6367C>A p.R2123S missense 0.00000826
695. 7583872 c.6377A>G p.E2126G missense 0.00000826
696. 7583879 c.6384G>C p.Q2128H missense 0.00000826
697. 7583880 c.6385A>G p.I2129V missense 0.00000826
698. 7583890 c.6395G>A p.G2132E missense 0.00001653
699. 7583892 c.6397G>T p.G2133C missense 0.00000827
700. 7583910 c.6415A>G p.N2139D missense 0.00000826
701. 7583911 c.6416A>G p.N2139S missense 0.00004132
702. 7583959 c.6464A>G p.D2155G missense 0.00003302
703. 7583992 c.6497G>A p.R2166Q missense 0.00000824
704. 7584021 c.6526G>C p.V2176L missense 0.00000824
705. 7584021 c.6526G>T p.V2176F missense 0.00000824
706. 7584037 c.6542T>C p.V2181A missense 0.00001647
707. 7584042 c.6547T>G p.Y2183D missense 0.00000824
708. 7584045 c.6550G>A p.V2184M missense 0.00002471
709. 7584059 c.6564A>C p.E2188D missense 0.00000824
710. 7584060 c.6565C>T p.R2189W missense 0.00005766
711. 7584061 c.6566G>A p.R2189Q missense 0.00003295
712. 7584085 c.6590G>A p.G2197D missense 0.00000824
713. 7584087 c.6592C>G p.L2198V missense 0.00000824
714. 7584096 c.6601C>T p.L2201F missense 0.00000824
715. 7584102 c.6607G>C p.V2203L missense 0.00000824
716. 7584125 c.6630C>A p.F2210L missense 0.00000824
717. 7584184 c.6689C>T p.P2230L missense 0.00004119
718. 7584219 c.6724T>C p.S2242P missense 0.00000825
719. 7584227 c.6732C>G p.D2244E missense 0.00000825
720. 7584260 c.6765G>T p.Q2255H missense 0.00003301
721. 7584260 c.6765G>C p.Q2255H missense 0.00000825
722. 7584271 c.6776G>A p.C2259Y missense 0.00000825
723. 7584282 c.6787A>G p.I2263V missense 0.00000824
724. 7584397 c.6902T>C p.I2301T missense 0.00001647
725. 7584427 c.6932C>T p.P2311L missense 0.00001647
726. 7584448 c.6953G>C p.R2318T missense 0.00000824
727. 7584451 c.6956G>A p.G2319D missense 0.00000824
728. 7584456 c.6961G>A p.V2321M missense 0.00000824
729. 7584479 c.6984G>T p.K2328N missense 0.00000824
730. 7584484 c.6989T>G p.L2330R missense 0.00000824
731. 7584526 c.7031C>G p.T2344R missense 0.00000824
732. 7584528 c.7033G>C p.G2345R missense 0.00003296
733. 7584534 c.7039A>C p.I2347L missense 0.00001648
734. 7584536 c.7041C>G p.I2347M missense 0.00000824
735. 7584541 c.7046C>G p.S2349C missense 0.00001648
736. 7584562 c.7067A>C p.K2356T missense 0.00000824
737. 7584570 c.7075A>G p.I2359V missense 0.00001648
738. 7584648 c.7153C>T p.R2385C missense 0.00000824
739. 7584655 c.7160C>T p.P2387L missense 0.00000824
740. 7584672 c.7177A>C p.K2393Q missense 0.00000824
741. 7584679 c.7184G>A p.G2395D missense 0.00001649
742. 7584708 c.7213C>A p.L2405I missense 0.00000825
743. 7584730 c.7235C>A p.T2412N missense 0.00000826
744. 7584744 c.7249G>T p.D2417Y missense 0.00000826
745. 7584774 c.7279C>A p.L2427M missense 0.00001653
746. 7584802 c.7307A>C p.D2436A missense 0.00000827
747. 7584836 c.7341A>C p.K2447N missense 0.00000827
748. 7584859 c.7364C>T p.T2455I missense 0.00004132
749. 7584869 c.7374G>T p.K2458N missense 0.00000826
750. 7584885 c.7390C>T p.R2464C missense 0.00001652
751. 7584891 c.7396G>A p.V2466M missense 0.00000826
752. 7584960 c.7465G>A p.D2489N missense 0.00000824
753. 7584963 c.7468T>C p.Y2490H missense 0.00000824
754. 7584996 c.7501T>C p.C2501R missense 0.00000824
755. 7585002 c.7507T>A p.W2503R missense 0.00000824
756. 7585033 c.7538G>A p.G2513D missense 0.00000824
757. 7585039 c.7544C>G p.T2515S missense 0.00000824
758. 7585044 c.7549G>T p.V2517L missense 0.00000824
759. 7585047 c.7552G>A p.V2518I missense 0.00001647
760. 7585057 c.7562A>G p.D2521G missense 0.00001647
761. 7585078 c.7583A>G p.Y2528C missense 0.00000824
762. 7585084 c.7589T>C p.I2530T missense 0.00004118
763. 7585087 c.7592A>C p.Q2531P missense 0.00000824
764. 7585096 c.7601T>C p.I2534T missense 0.00000824
765. 7585102 c.7607A>T p.K2536M missense 0.00000824
766. 7585110 c.7615G>A p.V2539I missense 0.00000824
767. 7585113 c.7618G>A p.D2540N missense 0.00001647
768. 7585125 c.7630T>G p.F2544V missense 0.00000824
769. 7585143 c.7648G>C p.G2550R missense 0.00001647
770. 7585143 c.7648G>A p.G2550S missense 0.00000824
771. 7585159 c.7664C>T p.T2555I missense 0.00000824
772. 7585174 c.7679T>C p.M2560T missense 0.00000824
773. 7585201 c.7706C>T p.T2569I missense 0.00004119
774. 7585222 c.7727G>T p.G2576V missense 0.00000824
775. 7585225 c.7730T>C p.V2577A missense 0.00000824
776. 7585229 c.7734C>G p.S2578R missense 0.00000824
777. 7585230 c.7735G>A p.D2579N missense 0.00001648
778. 7585240 c.7745T>G p.F2582C missense 0.00001648
779. 7585245 c.7750A>G p.S2584G missense 0.00000824
780. 7585255 c.7760A>G p.H2587R missense 0.00000824
781. 7585273 c.7778T>G p.I2593S missense 0.00000825
782. 7585282 c.7787T>C p.I2596T missense 0.00000825
783. 7585299 c.7804T>G p.L2602V missense 0.00000826
784. 7585318 c.7823C>A p.S2608Y missense 0.00000827
785. 7585345 c.7850G>A p.S2617N missense 0.00000828
786. 7585350 c.7855A>G p.I2619V missense 0.00001656
787. 7585359 c.7864A>G p.I2622V missense 0.00001657
788. 7585380 c.7885G>A p.E2629K missense 0.00000829
789. 7585413 c.7918G>T p.G2640C missense 0.00000829
790. 7585429 c.7934T>C p.I2645T missense 0.00001657
791. 7585435 c.7940G>A p.G2647D missense 0.00000828
792. 7585443 c.7948C>T p.L2650F missense 0.00000829
793. 7585458 c.7963G>T p.A2655S missense 0.00000829
794. 7585468 c.7973G>T p.G2658V missense 0.00000829
795. 7585492 c.7997G>A p.G2666D missense 0.00000829
796. 7585496 c.8001G>C p.Q2667H missense 0.00000828
797. 7585516 c.8021C>G p.A2674G missense 0.00000828
798. 7585525 c.8030A>G p.Q2677R missense 0.00001655
799. 7585528 c.8033G>A p.G2678D missense 0.00000827
800. 7585537 c.8042A>C p.D2681A missense 0.00003308
801. 7585539 c.8044C>G p.Q2682E missense 0.00002481
802. 7585548 c.8053G>T p.A2685S missense 0.00000827
803. 7585557 c.8062C>G p.L2688V missense 0.00000827
804. 7585557 c.8062C>A p.L2688M missense 0.00000827
805. 7585564 c.8069C>G p.P2690R missense 0.00000826
806. 7585579 c.8084T>A p.F2695Y missense 0.00000826
807. 7585613 c.8118G>C p.K2706N missense 0.00002474
808. 7585615 c.8120T>C p.M2707T missense 0.00000825
809. 7585621 c.8126C>T p.A2709V missense 0.00001649
810. 7585627 c.8132A>G p.E2711G missense 0.00000824
811. 7585658 c.8163G>T p.E2721D missense 0.00000825
812. 7585711 c.8216C>T p.P2739L missense 0.00000825
813. 7585716 c.8221G>A p.V2741M missense 0.00000825
814. 7585719 c.8224C>T p.H2742Y missense 0.00000825
815. 7585728 c.8233A>G p.I2745V missense 0.00003301
816. 7585730 c.8235A>G p.I2745M missense 0.00000825
817. 7585733 c.8238C>G p.S2746R missense 0.00000825
818. 7585750 c.8255G>A p.R2752Q missense 0.00000826
819. 7585774 c.8279C>T p.A2760V missense 0.00001651
820. 7585793 c.8298C>G p.D2766E missense 0.00000825
821. 7585809 c.8314A>G p.K2772E missense 0.00000825
822. 7585838 c.8343A>T p.L2781F missense 0.00000825
823. 7585849 c.8354A>G p.Y2785C missense 0.00001649
824. 7585858 c.8363C>T p.A2788V missense 0.00000824
825. 7585864 c.8369A>G p.N2790S missense 0.00000824
826. 7585867 c.8372G>A p.R2791H missense 0.00000824
827. 7585869 c.8374T>A p.S2792T missense 0.00003298
828. 7585885 c.8390T>C p.I2797T missense 0.00003299
829. 7585887 c.8392A>G p.T2798A missense 0.00000825
830. 7585896 c.8401C>G p.R2801G missense 0.00002475
831. 7585897 c.8402G>A p.R2801H missense 0.00000825
832. 7585899 c.8404C>T p.L2802F missense 0.00000825
833. 7585926 c.8431A>G p.K2811E missense 0.00000826
834. 7585936 c.8441C>G p.P2814R missense 0.00000827
835. 7585954 c.8459C>T p.S2820F missense 0.00000828
836. 7585987 c.8492C>T p.S2831L missense 0.00000835
837. 7585989 c.8494G>A p.G2832R missense 0.00000835
838. 7585990 c.8495G>T p.G2832V missense 0.00000835
839. 7585993 c.8498C>G p.S2833C missense 0.00001671
840. 7586001 c.8506G>A p.G2836R missense 0.00000837
841. 7586002 c.8507G>A p.G2836E missense 0.00005016
842. 7586007 c.8512C>T p.R2838C missense 0.00001674
843. 7586011 c.8516C>G p.S2839C missense 0.00000838
844. 7586013 c.8518G>T p.G2840W missense 0.00000837
845. 7586026 c.8531G>C p.G2844A missense 0.00000836
846. 7586032 c.8537G>A p.R2846Q missense 0.00000836
847. 7586055 c.8560G>C p.G2854R missense 0.00000836
848. 7586059 c.8564A>T p.N2855I missense 0.00000836
849. 7586085 c.8590T>C p.F2864L missense 0.00002525
850. 7580603 c.4180C>T p.Q1394X nonsense 0.00000826
851. 7568676 c.1273C>T p.R425X nonsense 0.00000824
852. 7584495 c.7000C>T p.R2334X nonsense 0.00001648
853. 7580228 c.3805C>T p.R1269X nonsense 0.00000832
854. 7583973 c.6478C>T p.R2160X nonsense 0.00000825
855. 7580621 c.4198C>T p.R1400X nonsense 0.00000827
856. 7580285 c.3862A>T p.K1288X nonsense 0.00000830
857. 7580288 c.3865C>T p.Q1289X nonsense 0.00000830
858. 7580795 c.4372C>T p.R1458X nonsense 0.00000827
859. 7580954 c.4531C>T p.Q1511X nonsense 0.00003330
860. 7562883 c.598-2A>G essential splice site 0.00000824
861. 7562884 c.598-1G>C essential splice site 0.00000824
862. 7563014 c.726+1G>A essential splice site 0.00000824
863. 7574314 c.2131-5_2131-2delGACA essential splice site 0.00000825
864. 7575030 c.2436+2T>C essential splice site 0.00000824
865. 7583805 c.6310delA frameshift 0.00003306
866. 7559535 c.499delA p.Lys167ArgfsTer29 frameshift 0.00000824
867. 7559633 c.597_597+1insGTAA p.Ala200ValfsTer21 frameshift 0.00003300
868. 7570763 c.1668delC p.Asp556GlufsTer2 frameshift 0.00000824
869. 7574979 c.2387_2390delCTGT p.Val797AlafsTer14 frameshift 0.00000824
870. 7580155 c.3732_3733insGAAAATC p.Asp1248LysfsTer7 frameshift 0.00000832
871. 7580229 c.3806delG p.Arg1269GlnfsTer16 frameshift 0.00000832
872. 7580431 c.4008delG p.Glu1337ArgfsTer12 frameshift 0.00002488
873. 7580737 c.4314_4315delTG p.Glu1439GlyfsTer11 frameshift 0.00000825
874. 7585262 c.7767_7770delAGTA p.Ser2591ArgfsTer11 frameshift 0.00000824
875. 7585783 c.8288_8289insGCTT p.Gln2765AlafsTer23 frameshift 0.00000825
876. 7585967 c.8472_8473insCTCCGGC p.Ser2825LeufsTer29 frameshift 0.00000828
877. 7586077 c.8582delC p.Tyr2862ThrfsTer21 frameshift 0.00002520
878. 7575640 c.2549_2550insTCT p.D850delinsDL inframe 0.00003295
879. 7583167 c.5672_5674delAGA p.E1891_K1892delinsE inframe 0.00000825
880. 7584030 c.6535_6537delAAG p.K2179del1 inframe 0.00001648
881. 7580280 c.3857_3859delAGA p.Lys1288del inframe 0.00000831
882. 7580492 c.4069_4071delGAG p.Glu1357del inframe 0.00001658
883. 7580647 c.4224_4226delAAT p.Ile1409del inframe 0.00000826
884. 7581583 c.5160_5162delAGA p.Glu1723del inframe 0.00003311
885. 7583316 c.5821_5826delAAACTC p.Lys1941_Leu1942del inframe 0.00000828
886. 7584840 c.7345_7347delAAG p.Lys2449del inframe 0.00000827
887. 7585968 c.8473_8484delTCCCGCTCCGGC p.Ser2825_Gly2828del inframe 0.00004141
888. 7585980 c.8485_8496delTCCCGCTCGGGA p.Ser2829_Gly2832del inframe 0.00005849
889. 7586000 c.8505_8506insGGATCTCGCTCC p.Ser2835_Gly2836insGlySerArgSer inframe 0.00005011
890. 7585993 c.8498_8499insCCCGCTCCGGA p.Ser2835_Gly2836insGlySerArgSer inframe 0.00000835

* 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.