DSP variants in ExAC

DSP gene summary
DSP variants in DCM

The table below lists the DSP 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. 7542236 c.88G>A p.V30M missense 0.00310766●●●●●●
2. 7542285 c.137G>A p.G46D missense 0.00003814●●●●●●
3. 7556022 c.242G>A p.C81Y missense 0.00012463●●●●●●
4. 7556049 c.269A>G p.Q90R missense 0.00067680●●●●●●
5. 7558419 c.344A>G p.N115S missense 0.00005766●●●●●●
6. 7562975 c.688G>A p.D230N missense 0.00039537●●●●●●
7. 7565727 c.913A>T p.I305F missense 0.02992749●●●●●●
8. 7569480 c.1481A>T p.Y494F missense 0.01176238●●●●●●
9. 7569562 c.1563C>A p.D521E missense 0.00000824●●●●●●
10. 7570791 c.1696G>A p.A566T missense 0.00018126●●●●●●
11. 7571692 c.1778A>G p.N593S missense 0.00051122●●●●●●
12. 7574476 c.2288A>G p.Y763C missense 0.00008269●●●●●●
13. 7575014 c.2422C>T p.R808C missense 0.00037071●●●●●●
14. 7575015 c.2423G>A p.R808H missense 0.00000824●●●●●●
15. 7576540 c.2644G>A p.E882K missense 0.00004944●●●●●●
16. 7576579 c.2683T>C p.Y895H missense 0.00009887●●●●●●
17. 7576616 c.2720G>A p.R907H missense 0.00002472●●●●●●
18. 7576619 c.2723G>A p.R908H missense 0.00112050●●●●●●
19. 7577213 c.2815G>A p.G939S missense 0.00368648●●●●●●
20. 7577261 c.2863G>A p.A955T missense 0.00004280●●●●●●
21. 7577264 c.2866A>T p.N956Y missense 0.00011232●●●●●●
22. 7579985 c.3562T>C p.Y1188H missense 0.00006715●●●●●●
23. 7580187 c.3764G>A p.R1255K missense 0.00003329●●●●●●
24. 7580197 c.3774C>A p.D1258E missense 0.00002497●●●●●●
25. 7580286 c.3863A>G p.K1288R missense 0.00000830●●●●●●
26. 7580346 c.3923G>A p.R1308Q missense 0.00121158●●●●●●
27. 7580396 c.3973A>C p.K1325Q missense 0.00000830●●●●●●
28. 7580445 c.4022G>A p.R1341H missense 0.00007466●●●●●●
29. 7580540 c.4117A>G p.T1373A missense 0.00009109●●●●●●
30. 7580564 c.4141A>T p.T1381S missense 0.00088503●●●●●●
31. 7580795 c.4372C>G p.R1458G missense 0.00173703●●●●●●
32. 7580912 c.4489C>T p.R1497W missense 0.00034944●●●●●●
33. 7580937 c.4514C>T p.A1505V missense 0.00007491●●●●●●
34. 7580958 c.4535A>G p.Y1512C missense 0.11560290●●●●●●
35. 7580988 c.4565C>T p.T1522M missense 0.00003330●●●●●●
36. 7581001 c.4578C>A p.N1526K missense 0.01351531●●●●●●
37. 7581011 c.4588G>T p.V1530F missense 0.00133205●●●●●●
38. 7581032 c.4609C>T p.R1537C missense 0.00913512●●●●●●
39. 7581198 c.4775A>G p.K1592R missense 0.00018482●●●●●●
40. 7581309 c.4886G>T p.S1629I missense 0.00006747●●●●●●
41. 7581366 c.4943A>G p.Q1648R missense 0.00016691●●●●●●
42. 7581384 c.4961T>C p.L1654P missense 0.00001667●●●●●●
43. 7581601 c.5178C>A p.N1726K missense 0.00086014●●●●●●
44. 7581636 c.5213G>A p.R1738Q missense 0.17240810●●●●●●
45. 7581641 c.5218G>A p.E1740K missense 0.00123848●●●●●●
46. 7581747 c.5324G>T p.R1775I missense 0.00008338●●●●●●
47. 7582993 c.5498A>T p.E1833V missense 0.00946015●●●●●●
48. 7583008 c.5513G>A p.R1838H missense 0.00005767●●●●●●
49. 7583088 c.5593A>T p.N1865Y missense 0.00051073●●●●●●
50. 7583112 c.5617C>T p.R1873C missense 0.00008239●●●●●●
51. 7583505 c.6010G>T p.V2004F missense 0.00000827●●●●●●
52. 7583703 c.6208G>A p.D2070N missense 0.00391873●●●●●●
53. 7583814 c.6319G>C p.V2107L missense 0.00009914●●●●●●
54. 7584294 c.6799A>T p.T2267S missense 0.00033780●●●●●●
55. 7584376 c.6881C>G p.A2294G missense 0.00084835●●●●●●
56. 7585029 c.7534G>T p.D2512Y missense 0.00000824●●●●●●
57. 7585117 c.7622G>A p.R2541K missense 0.00002471●●●●●●
58. 7585279 c.7784C>T p.T2595I missense 0.00000825●●●●●●
59. 7585347 c.7852C>T p.P2618S missense 0.00003312●●●●●●
60. 7585411 c.7916G>A p.R2639Q missense 0.00097805●●●●●●
61. 7585410 c.7915C>T p.R2639W missense 0.00004146●●●●●●
62. 7585602 c.8107G>A p.G2703R missense 0.00000825●●●●●●
63. 7585669 c.8174G>A p.R2725H missense 0.00000825●●●●●●
64. 7585686 c.8191T>C p.Y2731H missense 0.00280477●●●●●●
65. 7585795 c.8300C>A p.T2767N missense 0.00212116●●●●●●
66. 7585950 c.8455A>C p.M2819L missense 0.00171989●●●●●●
67. 7585957 c.8462C>T p.S2821L missense 0.00001656●●●●●●
68. 7585995 c.8500C>T p.R2834C missense 0.00001672●●●●●●
69. 7586026 c.8531G>T p.G2844V missense 0.00000836●●●●●●
70. 7586100 c.8605A>G p.I2869V missense 0.00216078●●●●●●
71. 7580878 c.4455G>T p.R1485S missense 0.00175366●●●●●●
72. 7580466 c.4043T>G p.L1348R missense 0.00001659●●●●●●
73. 7542294 c.146C>T p.T49I missense 0.00004074●●●●●●
74. 7559632 c.596G>A p.R199K missense 0.00002474●●●●●●
75. 7562930 c.643G>A p.E215K missense 0.00006589●●●●●●
76. 7565596 c.782C>T p.A261V missense 0.00014848●●●●●●
77. 7565674 c.860A>G p.N287S missense 0.00000824●●●●●●
78. 7566631 c.961G>C p.V321L missense 0.00002480●●●●●●
79. 7567645 c.1103T>C p.I368T missense 0.00007413●●●●●●
80. 7568027 c.1154C>T p.A385V missense 0.00014843●●●●●●
81. 7568095 c.1222A>C p.N408H missense 0.00002480●●●●●●
82. 7571644 c.1730T>C p.M577T missense 0.00001650●●●●●●
83. 7571815 c.1901C>G p.T634R missense 0.00000826●●●●●●
84. 7572120 c.1949A>G p.N650S missense 0.00003306●●●●●●
85. 7572134 c.1963A>T p.I655F missense 0.00000825●●●●●●
86. 7572194 c.2023A>G p.I675V missense 0.00002472●●●●●●
87. 7572208 c.2037A>G p.I679M missense 0.00004120●●●●●●
88. 7575559 c.2468C>T p.S823L missense 0.00005766●●●●●●
89. 7575643 c.2552T>A p.L851Q missense 0.00003295●●●●●●
90. 7575687 c.2596C>T p.R866C missense 0.00060960●●●●●●
91. 7576669 c.2773C>T p.R925W missense 0.00046996●●●●●●
92. 7576670 c.2774G>A p.R925Q missense 0.00023086●●●●●●
93. 7579705 c.3282G>C p.K1094N missense 0.00001660●●●●●●
94. 7579727 c.3304G>A p.G1102S missense 0.00004154●●●●●●
95. 7579974 c.3551G>A p.R1184Q missense 0.00005887●●●●●●
96. 7580039 c.3616T>A p.L1206I missense 0.00009158●●●●●●
97. 7580285 c.3862A>C p.K1288Q missense 0.00033219●●●●●●
98. 7580345 c.3922C>T p.R1308W missense 0.00011618●●●●●●
99. 7580379 c.3956C>T p.T1319I missense 0.00001660●●●●●●
100. 7580469 c.4046G>A p.S1349N missense 0.00001659●●●●●●
101. 7580528 c.4105G>A p.E1369K missense 0.00001657●●●●●●
102. 7580996 c.4573A>G p.I1525V missense 0.00001665●●●●●●
103. 7581324 c.4901G>A p.R1634Q missense 0.00008416●●●●●●
104. 7581590 c.5167G>C p.E1723Q missense 0.00021517●●●●●●
105. 7581620 c.5197G>A p.D1733N missense 0.00001653●●●●●●
106. 7581786 c.5363A>G p.Q1788R missense 0.00005925●●●●●●
107. 7582912 c.5417C>G p.T1806S missense 0.00002473●●●●●●
108. 7583239 c.5744G>A p.R1915H missense 0.00016535●●●●●●
109. 7583317 c.5822A>C p.K1941T missense 0.00001656●●●●●●
110. 7583683 c.6188G>A p.R2063Q missense 0.00000833●●●●●●
111. 7583802 c.6307A>G p.K2103E missense 0.00011569●●●●●●
112. 7583863 c.6368G>A p.R2123H missense 0.00001653●●●●●●
113. 7583937 c.6442G>A p.A2148T missense 0.00001653●●●●●●
114. 7583974 c.6479G>A p.R2160Q missense 0.00004126●●●●●●
115. 7584006 c.6511A>G p.N2171D missense 0.00000824●●●●●●
116. 7584079 c.6584A>G p.H2195R missense 0.00000824●●●●●●
117. 7585036 c.7541C>T p.S2514F missense 0.00000824●●●●●●
118. 7585197 c.7702G>A p.G2568S missense 0.00002471●●●●●●
119. 7585371 c.7876G>C p.E2626Q missense 0.00001659●●●●●●
120. 7585378 c.7883T>C p.L2628P missense 0.00013270●●●●●●
121. 7585489 c.7994C>T p.T2665M missense 0.00002486●●●●●●
122. 7585545 c.8050A>G p.M2684V missense 0.00000827●●●●●●
123. 7585668 c.8173C>T p.R2725C missense 0.00004948●●●●●●
124. 7585704 c.8209G>C p.V2737L missense 0.00001650●●●●●●
125. 7585720 c.8225A>G p.H2742R missense 0.00000825●●●●●●
126. 7585770 c.8275C>T p.R2759C missense 0.00000826●●●●●●
127. 7585962 c.8467C>G p.P2823A missense 0.00033131●●●●●●
128. 7585971 c.8476C>T p.R2826C missense 0.00000834●●●●●●
129. 7586061 c.8566T>A p.S2856T missense 0.00000837●●●●●●
130. 7584534 c.7039A>G p.I2347V missense 0.00002472●●●●●●
131. 7568689 c.1286T>C p.L429P missense 0.00000824●●●●●●
132. 7580124 c.3701A>G p.N1234S missense 0.00009136●●●●●●
133. 7581164 c.4741A>G p.K1581E missense 0.00022597●●●●●●
134. 7581173 c.4750G>A p.A1584T missense 0.00030170●●●●●●
135. 7583607 c.6112A>C p.K2038Q missense 0.00001658●●●●●●
136. 7583946 c.6451C>T p.R2151W missense 0.00008262●●●●●●
137. 7542186 c.38C>T p.T13I missense 0.00006508●●●●●●
138. 7542252 c.104G>C p.G35A missense 0.00002714●●●●●●
139. 7555962 c.182C>T p.T61M missense 0.00001651●●●●●●
140. 7562954 c.667G>A p.G223S missense 0.00004942●●●●●●
141. 7565627 c.813G>T p.Q271H missense 0.00000824●●●●●●
142. 7565703 c.889G>A p.D297N missense 0.00008240●●●●●●
143. 7566613 c.943C>T p.R315C missense 0.00007456●●●●●●
144. 7566616 c.946A>G p.M316V missense 0.00002484●●●●●●
145. 7569533 c.1534A>G p.I512V missense 0.00004118●●●●●●
146. 7570725 c.1630A>C p.M544L missense 0.00003295●●●●●●
147. 7574919 c.2327C>G p.A776G missense 0.00000824●●●●●●
148. 7580015 c.3592C>T p.H1198Y missense 0.00000837●●●●●●
149. 7580023 c.3600T>G p.N1200K missense 0.00002506●●●●●●
150. 7580069 c.3646A>G p.I1216V missense 0.00016590●●●●●●
151. 7580598 c.4175G>A p.R1392Q missense 0.00008266●●●●●●
152. 7581119 c.4696C>G p.L1566V missense 0.00002503●●●●●●
153. 7581396 c.4973C>T p.S1658F missense 0.00000833●●●●●●
154. 7581596 c.5173C>T p.R1725W missense 0.00019855●●●●●●
155. 7582881 c.5386A>G p.N1796D missense 0.00007438●●●●●●
156. 7583050 c.5555G>A p.R1852H missense 0.00023887●●●●●●
157. 7583790 c.6295C>A p.P2099T missense 0.00026452●●●●●●
158. 7583791 c.6296C>T p.P2099L missense 0.00026453●●●●●●
159. 7584876 c.7381C>T p.L2461F missense 0.00000826●●●●●●
160. 7585216 c.7721G>A p.G2574D missense 0.00000824●●●●●●
161. 7585312 c.7817G>A p.S2606N missense 0.00004957●●●●●●
162. 7585459 c.7964C>G p.A2655G missense 0.00004145●●●●●●
163. 7542284 c.136G>A p.G46S missense 0.00003796●●●●●●
164. 7556039 c.259C>G p.L87V missense 0.00002558●●●●●●
165. 7559557 c.521G>T p.C174F missense 0.00005765●●●●●●
166. 7562952 c.665G>A p.R222Q missense 0.00001647●●●●●●
167. 7562972 c.685G>A p.G229S missense 0.00000824●●●●●●
168. 7565655 c.841A>G p.R281G missense 0.00000824●●●●●●
169. 7565714 c.900C>A p.D300E missense 0.00000824●●●●●●
170. 7565730 c.916G>A p.A306T missense 0.00004944●●●●●●
171. 7568070 c.1197C>G p.I399M missense 0.00001651●●●●●●
172. 7569425 c.1426G>A p.V476M missense 0.00004119●●●●●●
173. 7569482 c.1483G>A p.V495M missense 0.00013178●●●●●●
174. 7569486 c.1487C>T p.T496M missense 0.00002471●●●●●●
175. 7569500 c.1501G>A p.V501I missense 0.00005765●●●●●●
176. 7571629 c.1715G>A p.R572Q missense 0.00001650●●●●●●
177. 7571730 c.1816C>T p.R606W missense 0.00002474●●●●●●
178. 7572131 c.1960G>A p.V654I missense 0.00001651●●●●●●
179. 7576580 c.2684A>G p.Y895C missense 0.00019774●●●●●●
180. 7576594 c.2698A>G p.K900E missense 0.00000824●●●●●●
181. 7576618 c.2722C>T p.R908C missense 0.00018950●●●●●●
182. 7577197 c.2799G>C p.L933F missense 0.00007513●●●●●●
183. 7577270 c.2872A>G p.I958V missense 0.00000876●●●●●●
184. 7578716 c.3005G>A p.R1002Q missense 0.00007418●●●●●●
185. 7579554 c.3131C>T p.A1044V missense 0.00000836●●●●●●
186. 7579557 c.3134G>A p.R1045Q missense 0.00004176●●●●●●
187. 7579720 c.3297G>C p.K1099N missense 0.00011626●●●●●●
188. 7579748 c.3325G>A p.E1109K missense 0.00004157●●●●●●
189. 7580129 c.3706A>G p.R1236G missense 0.00007478●●●●●●
190. 7580174 c.3751G>C p.D1251H missense 0.00000832●●●●●●
191. 7580181 c.3758T>C p.I1253T missense 0.00000832●●●●●●
192. 7580300 c.3877A>G p.I1293V missense 0.00003321●●●●●●
193. 7580342 c.3919G>A p.A1307T missense 0.00001659●●●●●●
194. 7580535 c.4112A>G p.N1371S missense 0.00000828●●●●●●
195. 7580796 c.4373G>A p.R1458Q missense 0.00005793●●●●●●
196. 7581071 c.4648A>T p.T1550S missense 0.00001666●●●●●●
197. 7581136 c.4713G>C p.Q1571H missense 0.00000835●●●●●●
198. 7581216 c.4793T>A p.L1598Q missense 0.00000841●●●●●●
199. 7581486 c.5063C>T p.A1688V missense 0.00002495●●●●●●
200. 7581546 c.5123C>T p.S1708F missense 0.00001659●●●●●●
201. 7583106 c.5611T>G p.Y1871D missense 0.00000824●●●●●●
202. 7583305 c.5810G>A p.R1937K missense 0.00000828●●●●●●
203. 7583376 c.5881G>A p.V1961I missense 0.00003309●●●●●●
204. 7583636 c.6141G>C p.M2047I missense 0.00000831●●●●●●
205. 7583682 c.6187C>G p.R2063G missense 0.00000833●●●●●●
206. 7583728 c.6233T>C p.I2078T missense 0.00003321●●●●●●
207. 7583742 c.6247C>T p.R2083C missense 0.00004146●●●●●●
208. 7583856 c.6361G>A p.G2121R missense 0.00000826●●●●●●
209. 7583862 c.6367C>T p.R2123C missense 0.00001653●●●●●●
210. 7583947 c.6452G>A p.R2151Q missense 0.00000826●●●●●●
211. 7583961 c.6466A>G p.R2156G missense 0.00000825●●●●●●
212. 7584213 c.6718C>G p.Q2240E missense 0.00005772●●●●●●
213. 7584612 c.7117G>A p.A2373T missense 0.00002472●●●●●●
214. 7584657 c.7162G>A p.V2388I missense 0.00001648●●●●●●
215. 7584855 c.7360C>G p.Q2454E missense 0.00000826●●●●●●
216. 7584922 c.7427A>G p.E2476G missense 0.00000825●●●●●●
217. 7585233 c.7738G>T p.D2580Y missense 0.00000824●●●●●●
218. 7585628 c.8133G>T p.E2711D missense 0.00000824●●●●●●
219. 7585667 c.8172G>T p.Q2724H missense 0.00003299●●●●●●
220. 7585804 c.8309A>G p.Y2770C missense 0.00003301●●●●●●
221. 7585825 c.8330C>A p.P2777H missense 0.00001650●●●●●●
222. 7585977 c.8482G>A p.G2828S missense 0.00002503●●●●●●
223. 7584150 c.6655G>A p.V2219I missense 0.00057663●●●●●●
224. 7585612 c.8117A>T p.K2706M missense 0.00004123●●●●●●
225. 7574952 c.2360A>G p.Y787C missense 0.00008236●●●●●●
226. 7575688 c.2597G>T p.R866L missense 0.00001648●●●●●●
227. 7558382 c.307C>T p.R103W missense 0.00002471●●●●●●
228. 7559460 c.424C>T p.L142F missense 0.00002477●●●●●●
229. 7581140 c.4717G>A p.V1573M missense 0.00000835●●●●●●
230. 7583892 c.6397G>A p.G2133S missense 0.00003306●●●●●●
231. 7542160 c.12C>G p.N4K missense 0.00497197●●●●●●
232. 7542305 c.157T>G p.S53A missense 0.00102204●●●●●●
233. 7559521 c.485G>A p.R162H missense 0.00001647●●●●●●
234. 7562973 c.686G>A p.G229D missense 0.00000824●●●●●●
235. 7563982 c.740C>T p.A247V missense 0.00003295●●●●●●
236. 7571731 c.1817G>A p.R606Q missense 0.00003298●●●●●●
237. 7572252 c.2081C>T p.A694V missense 0.00001648●●●●●●
238. 7572254 c.2083G>C p.D695H missense 0.00000824●●●●●●
239. 7574383 c.2195A>C p.N732T missense 0.00000824●●●●●●
240. 7574937 c.2345A>G p.D782G missense 0.00005765●●●●●●
241. 7575541 c.2450A>T p.D817V missense 0.00000824●●●●●●
242. 7575700 c.2609T>C p.I870T missense 0.00000824●●●●●●
243. 7575714 c.2623G>A p.D875N missense 0.00000824●●●●●●
244. 7579695 c.3272A>G p.K1091R missense 0.00000830●●●●●●
245. 7579925 c.3502G>A p.E1168K missense 0.00001677●●●●●●
246. 7580073 c.3650C>T p.T1217M missense 0.00047279●●●●●●
247. 7580444 c.4021C>T p.R1341C missense 0.00000830●●●●●●
248. 7580494 c.4071G>C p.E1357D missense 0.00004975●●●●●●
249. 7580847 c.4424C>T p.T1475I missense 0.00000830●●●●●●
250. 7580949 c.4526G>A p.R1509K missense 0.00016648●●●●●●
251. 7581089 c.4666A>G p.I1556V missense 0.00002501●●●●●●
252. 7581338 c.4915G>A p.V1639M missense 0.00006704●●●●●●
253. 7583017 c.5522C>T p.S1841L missense 0.00004119●●●●●●
254. 7583049 c.5554C>T p.R1852C missense 0.00028829●●●●●●
255. 7583407 c.5912T>C p.L1971P missense 0.00000826●●●●●●
256. 7583800 c.6305G>T p.G2102V missense 0.00001653●●●●●●
257. 7583835 c.6340A>G p.N2114D missense 0.00000826●●●●●●
258. 7584067 c.6572G>A p.R2191K missense 0.00000824●●●●●●
259. 7584228 c.6733G>A p.E2245K missense 0.00000825●●●●●●
260. 7585252 c.7757G>A p.R2586Q missense 0.00000824●●●●●●
261. 7585342 c.7847C>T p.S2616L missense 0.00000828●●●●●●
262. 7585530 c.8035G>A p.V2679M missense 0.00000827●●●●●●
263. 7585972 c.8477G>A p.R2826H missense 0.00000834●●●●●●
264. 7580346 c.3923G>C p.R1308P missense 0.00001660●●●●●●
265. 7583550 c.6055G>T p.A2019S missense 0.00002484●●●●●●
266. 7542150 c.2T>G p.Met1? missense 0.00001185●●●●●●
267. 7542159 c.11A>G p.N4S missense 0.00002374●●●●●●
268. 7542194 c.46C>T p.R16C missense 0.00001402●●●●●●
269. 7542194 c.46C>A p.R16S missense 0.00005609●●●●●●
270. 7542195 c.47G>A p.R16H missense 0.00012784●●●●●●
271. 7542203 c.55C>T p.R19C missense 0.00006007●●●●●●
272. 7542209 c.61G>A p.E21K missense 0.00003129●●●●●●
273. 7542211 c.63G>T p.E21D missense 0.00001609●●●●●●
274. 7542227 c.79C>T p.R27C missense 0.00003739●●●●●●
275. 7542230 c.82T>G p.Y28D missense 0.00001911●●●●●●
276. 7542239 c.91A>G p.T31A missense 0.00002168●●●●●●
277. 7542255 c.107G>T p.G36V missense 0.00002863●●●●●●
278. 7542255 c.107G>C p.G36A missense 0.00002863●●●●●●
279. 7542263 c.115A>G p.R39G missense 0.00003020●●●●●●
280. 7542279 c.131G>C p.R44P missense 0.00003694●●●●●●
281. 7542305 c.157T>C p.S53P missense 0.00004444●●●●●●
282. 7555968 c.188C>G p.S63C missense 0.00000825●●●●●●
283. 7555974 c.194A>T p.H65L missense 0.00000825●●●●●●
284. 7556015 c.235T>C p.S79P missense 0.00000828●●●●●●
285. 7556033 c.253G>A p.A85T missense 0.00000841●●●●●●
286. 7556036 c.256G>C p.E86Q missense 0.00001695●●●●●●
287. 7556045 c.265G>A p.V89M missense 0.00000869●●●●●●
288. 7556051 c.271C>G p.P91A missense 0.00001764●●●●●●
289. 7558359 c.284A>G p.Y95C missense 0.00002471●●●●●●
290. 7558362 c.287G>C p.G96A missense 0.00000824●●●●●●
291. 7558366 c.291T>G p.D97E missense 0.00000824●●●●●●
292. 7558374 c.299A>T p.Q100L missense 0.00000824●●●●●●
293. 7558375 c.300A>T p.Q100H missense 0.00004118●●●●●●
294. 7558379 c.304A>C p.T102P missense 0.00000824●●●●●●
295. 7558382 c.307C>G p.R103G missense 0.00001647●●●●●●
296. 7558383 c.308G>A p.R103Q missense 0.00000824●●●●●●
297. 7558389 c.314G>A p.R105Q missense 0.00004118●●●●●●
298. 7558409 c.334G>T p.A112S missense 0.00000824●●●●●●
299. 7558415 c.340G>A p.A114T missense 0.00003295●●●●●●
300. 7558428 c.353T>C p.M118T missense 0.00000824●●●●●●
301. 7558439 c.364G>A p.D122N missense 0.00000824●●●●●●
302. 7558460 c.385C>T p.R129W missense 0.00001655●●●●●●
303. 7558461 c.386G>A p.R129Q missense 0.00000828●●●●●●
304. 7558483 c.408T>G p.D136E missense 0.00001716●●●●●●
305. 7559459 c.423G>C p.R141S missense 0.00000826●●●●●●
306. 7559464 c.428T>C p.L143P missense 0.00000825●●●●●●
307. 7559467 c.431A>C p.Q144P missense 0.00000825●●●●●●
308. 7559481 c.445A>T p.M149L missense 0.00000824●●●●●●
309. 7559485 c.449G>A p.R150Q missense 0.00002471●●●●●●
310. 7559502 c.466A>C p.I156L missense 0.00000824●●●●●●
311. 7559502 c.466A>G p.I156V missense 0.00000824●●●●●●
312. 7559503 c.467T>A p.I156N missense 0.00001647●●●●●●
313. 7559515 c.479G>A p.R160Q missense 0.00002471●●●●●●
314. 7559520 c.484C>G p.R162G missense 0.00002471●●●●●●
315. 7559520 c.484C>T p.R162C missense 0.00002471●●●●●●
316. 7559521 c.485G>T p.R162L missense 0.00000824●●●●●●
317. 7559527 c.491C>T p.A164V missense 0.00000824●●●●●●
318. 7559539 c.503G>C p.G168A missense 0.00000824●●●●●●
319. 7559544 c.508G>A p.G170R missense 0.00001647●●●●●●
320. 7559554 c.518C>T p.T173I missense 0.00000824●●●●●●
321. 7559557 c.521G>A p.C174Y missense 0.00000824●●●●●●
322. 7559571 c.535G>A p.G179S missense 0.00001647●●●●●●
323. 7559576 c.540G>C p.W180C missense 0.00000824●●●●●●
324. 7559589 c.553A>G p.K185E missense 0.00001647●●●●●●
325. 7559590 c.554A>G p.K185R missense 0.00000824●●●●●●
326. 7559601 c.565A>G p.S189G missense 0.00000824●●●●●●
327. 7559608 c.572G>A p.C191Y missense 0.00000824●●●●●●
328. 7559611 c.575T>C p.L192S missense 0.00000824●●●●●●
329. 7559614 c.578G>C p.G193A missense 0.00000824●●●●●●
330. 7559619 c.583A>G p.M195V missense 0.00001648●●●●●●
331. 7559622 c.586A>G p.R196G missense 0.00000824●●●●●●
332. 7562912 c.625G>A p.V209M missense 0.00000824●●●●●●
333. 7562927 c.640G>A p.V214M missense 0.00000824●●●●●●
334. 7562952 c.665G>C p.R222P missense 0.00000824●●●●●●
335. 7562957 c.670A>G p.I224V missense 0.00000824●●●●●●
336. 7562972 c.685G>T p.G229C missense 0.00000824●●●●●●
337. 7562979 c.692A>G p.Y231C missense 0.00001647●●●●●●
338. 7562981 c.694C>T p.R232C missense 0.00000824●●●●●●
339. 7562982 c.695G>A p.R232H missense 0.00000824●●●●●●
340. 7563970 c.728G>A p.R243H missense 0.00000824●●●●●●
341. 7565636 c.822C>G p.N274K missense 0.00000824●●●●●●
342. 7565664 c.850A>G p.M284V missense 0.00000824●●●●●●
343. 7565676 c.862G>A p.D288N missense 0.00002472●●●●●●
344. 7565712 c.898G>A p.D300N missense 0.00000824●●●●●●
345. 7565725 c.911A>T p.N304I missense 0.00000824●●●●●●
346. 7565727 c.913A>G p.I305V missense 0.00000824●●●●●●
347. 7566614 c.944G>T p.R315L missense 0.00002485●●●●●●
348. 7566614 c.944G>A p.R315H missense 0.00000828●●●●●●
349. 7566635 c.965A>G p.K322R missense 0.00000826●●●●●●
350. 7566640 c.970A>C p.K324Q missense 0.00000826●●●●●●
351. 7566644 c.974A>G p.E325G missense 0.00000826●●●●●●
352. 7566662 c.992A>G p.Q331R missense 0.00000826●●●●●●
353. 7566662 c.992A>C p.Q331P missense 0.00000826●●●●●●
354. 7566667 c.997A>G p.S333G missense 0.00000826●●●●●●
355. 7566668 c.998G>A p.S333N missense 0.00000826●●●●●●
356. 7566672 c.1002C>A p.D334E missense 0.00001652●●●●●●
357. 7566676 c.1006C>T p.L336F missense 0.00000826●●●●●●
358. 7566680 c.1010T>C p.V337A missense 0.00000826●●●●●●
359. 7566682 c.1012C>T p.L338F missense 0.00000826●●●●●●
360. 7566686 c.1016A>G p.N339S missense 0.00001653●●●●●●
361. 7566704 c.1034A>G p.D345G missense 0.00003311●●●●●●
362. 7566710 c.1040T>C p.I347T missense 0.00000829●●●●●●
363. 7567609 c.1067C>T p.T356M missense 0.00000824●●●●●●
364. 7567631 c.1089G>C p.Q363H missense 0.00000824●●●●●●
365. 7567636 c.1094C>T p.T365I missense 0.00000824●●●●●●
366. 7567648 c.1106A>T p.D369V missense 0.00000824●●●●●●
367. 7567677 c.1135T>A p.F379I missense 0.00000824●●●●●●
368. 7568026 c.1153G>T p.A385S missense 0.00002474●●●●●●
369. 7568031 c.1158G>T p.Q386H missense 0.00000825●●●●●●
370. 7568033 c.1160C>T p.S387F missense 0.00000825●●●●●●
371. 7568035 c.1162A>G p.T388A missense 0.00000825●●●●●●
372. 7568053 c.1180G>A p.G394R missense 0.00000825●●●●●●
373. 7568066 c.1193C>T p.S398F missense 0.00000825●●●●●●
374. 7568097 c.1224C>A p.N408K missense 0.00000827●●●●●●
375. 7568105 c.1232T>C p.L411P missense 0.00000827●●●●●●
376. 7568110 c.1237C>T p.H413Y missense 0.00000828●●●●●●
377. 7568127 c.1254C>G p.I418M missense 0.00000830●●●●●●
378. 7568134 c.1261C>G p.L421V missense 0.00000831●●●●●●
379. 7568135 c.1262T>C p.L421P missense 0.00000831●●●●●●
380. 7568677 c.1274G>A p.R425Q missense 0.00002472●●●●●●
381. 7568679 c.1276G>A p.E426K missense 0.00000824●●●●●●
382. 7568686 c.1283T>A p.I428N missense 0.00000824●●●●●●
383. 7568691 c.1288G>A p.E430K missense 0.00000824●●●●●●
384. 7568700 c.1297C>T p.R433C missense 0.00001648●●●●●●
385. 7568701 c.1298G>A p.R433H missense 0.00002471●●●●●●
386. 7568727 c.1324T>G p.S442A missense 0.00002471●●●●●●
387. 7568752 c.1349C>T p.P450L missense 0.00001648●●●●●●
388. 7568765 c.1362C>A p.D454E missense 0.00000824●●●●●●
389. 7568781 c.1378C>G p.P460A missense 0.00000824●●●●●●
390. 7568782 c.1379C>T p.P460L missense 0.00000824●●●●●●
391. 7568815 c.1412A>G p.Q471R missense 0.00000825●●●●●●
392. 7568821 c.1418A>G p.Q473R missense 0.00004124●●●●●●
393. 7569425 c.1426G>T p.V476L missense 0.00000824●●●●●●
394. 7569443 c.1444T>G p.C482G missense 0.00001647●●●●●●
395. 7569467 c.1468C>T p.R490C missense 0.00004118●●●●●●
396. 7569468 c.1469G>A p.R490H missense 0.00004118●●●●●●
397. 7569492 c.1493C>T p.P498L missense 0.00002471●●●●●●
398. 7569498 c.1499G>A p.G500D missense 0.00000824●●●●●●
399. 7569503 c.1504G>A p.D502N missense 0.00000824●●●●●●
400. 7569508 c.1509G>T p.M503I missense 0.00000824●●●●●●
401. 7569521 c.1522G>A p.V508M missense 0.00000824●●●●●●
402. 7569539 c.1540C>T p.P514S missense 0.00000824●●●●●●
403. 7569557 c.1558G>A p.V520M missense 0.00001647●●●●●●
404. 7569561 c.1562A>C p.D521A missense 0.00002471●●●●●●
405. 7570698 c.1603G>T p.A535S missense 0.00000824●●●●●●
406. 7570726 c.1631T>C p.M544T missense 0.00000824●●●●●●
407. 7570758 c.1663A>T p.I555F missense 0.00000824●●●●●●
408. 7570766 c.1671A>G p.I557M missense 0.00000824●●●●●●
409. 7570767 c.1672G>C p.E558Q missense 0.00001647●●●●●●
410. 7570780 c.1685C>T p.A562V missense 0.00000824●●●●●●
411. 7571623 c.1709C>T p.T570I missense 0.00001650●●●●●●
412. 7571643 c.1729A>C p.M577L missense 0.00000825●●●●●●
413. 7571646 c.1732A>C p.K578Q missense 0.00000825●●●●●●
414. 7571650 c.1736C>T p.T579M missense 0.00000825●●●●●●
415. 7571652 c.1738A>G p.I580V missense 0.00000825●●●●●●
416. 7571658 c.1744G>A p.D582N missense 0.00000825●●●●●●
417. 7571664 c.1750G>A p.E584K missense 0.00000825●●●●●●
418. 7571695 c.1781G>T p.S594I missense 0.00000825●●●●●●
419. 7571721 c.1807G>C p.D603H missense 0.00000825●●●●●●
420. 7571738 c.1824A>G p.I608M missense 0.00000825●●●●●●
421. 7571754 c.1840G>A p.D614N missense 0.00003298●●●●●●
422. 7571766 c.1852C>T p.H618Y missense 0.00000825●●●●●●
423. 7571815 c.1901C>A p.T634K missense 0.00000826●●●●●●
424. 7572117 c.1946T>C p.V649A missense 0.00000827●●●●●●
425. 7572121 c.1950C>A p.N650K missense 0.00000826●●●●●●
426. 7572126 c.1955A>G p.N652S missense 0.00000826●●●●●●
427. 7572137 c.1966G>A p.E656K missense 0.00000825●●●●●●
428. 7572144 c.1973A>G p.N658S missense 0.00000825●●●●●●
429. 7572159 c.1988A>G p.K663R missense 0.00001649●●●●●●
430. 7572167 c.1996A>G p.T666A missense 0.00000824●●●●●●
431. 7572171 c.2000G>C p.W667S missense 0.00001649●●●●●●
432. 7572173 c.2002A>G p.M668V missense 0.00000824●●●●●●
433. 7572174 c.2003T>C p.M668T missense 0.00000824●●●●●●
434. 7572179 c.2008A>G p.M670V missense 0.00000824●●●●●●
435. 7572184 c.2013G>C p.E671D missense 0.00000824●●●●●●
436. 7572189 c.2018A>C p.Q673P missense 0.00004945●●●●●●
437. 7572194 c.2023A>T p.I675F missense 0.00000824●●●●●●
438. 7572197 c.2026C>T p.R676C missense 0.00001648●●●●●●
439. 7572198 c.2027G>A p.R676H missense 0.00001648●●●●●●
440. 7572201 c.2030G>A p.R677K missense 0.00002472●●●●●●
441. 7572212 c.2041C>G p.H681D missense 0.00000824●●●●●●
442. 7572213 c.2042A>G p.H681R missense 0.00000824●●●●●●
443. 7572218 c.2047G>A p.E683K missense 0.00001648●●●●●●
444. 7572245 c.2074C>G p.P692A missense 0.00000824●●●●●●
445. 7572277 c.2106C>G p.I702M missense 0.00000830●●●●●●
446. 7572290 c.2119A>G p.N707D missense 0.00000840●●●●●●
447. 7572293 c.2122G>A p.E708K missense 0.00000843●●●●●●
448. 7574322 c.2134G>A p.V712M missense 0.00000825●●●●●●
449. 7574341 c.2153C>T p.A718V missense 0.00000824●●●●●●
450. 7574344 c.2156T>C p.I719T missense 0.00000824●●●●●●
451. 7574359 c.2171A>C p.N724T missense 0.00000824●●●●●●
452. 7574372 c.2184T>A p.D728E missense 0.00002472●●●●●●
453. 7574374 c.2186T>G p.M729R missense 0.00000824●●●●●●
454. 7574379 c.2191G>A p.A731T missense 0.00000824●●●●●●
455. 7574382 c.2194A>G p.N732D missense 0.00005769●●●●●●
456. 7574407 c.2219G>C p.C740S missense 0.00001649●●●●●●
457. 7574410 c.2222A>G p.Y741C missense 0.00000824●●●●●●
458. 7574443 c.2255A>T p.K752I missense 0.00000825●●●●●●
459. 7574448 c.2260G>A p.E754K missense 0.00001651●●●●●●
460. 7574463 c.2275G>A p.V759I missense 0.00000826●●●●●●
461. 7574467 c.2279C>T p.T760I missense 0.00000826●●●●●●
462. 7574906 c.2314G>A p.A772T missense 0.00000824●●●●●●
463. 7574907 c.2315C>A p.A772E missense 0.00000824●●●●●●
464. 7574921 c.2329A>G p.I777V missense 0.00000824●●●●●●
465. 7574960 c.2368A>G p.R790G missense 0.00000824●●●●●●
466. 7574969 c.2377G>A p.E793K missense 0.00000824●●●●●●
467. 7574978 c.2386A>G p.T796A missense 0.00001647●●●●●●
468. 7574996 c.2404G>A p.D802N missense 0.00000824●●●●●●
469. 7575534 c.2443A>G p.K815E missense 0.00001650●●●●●●
470. 7575547 c.2456A>G p.N819S missense 0.00000824●●●●●●
471. 7575571 c.2480C>A p.T827N missense 0.00000824●●●●●●
472. 7575616 c.2525C>G p.T842S missense 0.00000824●●●●●●
473. 7575628 c.2537A>G p.Y846C missense 0.00000824●●●●●●
474. 7575631 c.2540C>T p.P847L missense 0.00000824●●●●●●
475. 7575631 c.2540C>G p.P847R missense 0.00003295●●●●●●
476. 7575634 c.2543T>C p.L848P missense 0.00000824●●●●●●
477. 7575637 c.2546A>G p.Y849C missense 0.00010708●●●●●●
478. 7575657 c.2566T>C p.F856L missense 0.00000824●●●●●●
479. 7575660 c.2569G>A p.G857S missense 0.00004118●●●●●●
480. 7575669 c.2578G>A p.V860I missense 0.00001647●●●●●●
481. 7575675 c.2584C>G p.Q862E missense 0.00000824●●●●●●
482. 7575675 c.2584C>A p.Q862K missense 0.00000824●●●●●●
483. 7575688 c.2597G>A p.R866H missense 0.00000824●●●●●●
484. 7575698 c.2607G>C p.R869S missense 0.00000824●●●●●●
485. 7575713 c.2622C>G p.I874M missense 0.00004121●●●●●●
486. 7576562 c.2666G>A p.R889K missense 0.00006591●●●●●●
487. 7576570 c.2674C>T p.R892C missense 0.00000824●●●●●●
488. 7576571 c.2675G>A p.R892H missense 0.00003296●●●●●●
489. 7576574 c.2678A>C p.D893A missense 0.00000824●●●●●●
490. 7576580 c.2684A>C p.Y895S missense 0.00000824●●●●●●
491. 7576586 c.2690C>T p.A897V missense 0.00000824●●●●●●
492. 7576604 c.2708A>G p.Y903C missense 0.00000824●●●●●●
493. 7576615 c.2719C>T p.R907C missense 0.00000824●●●●●●
494. 7576619 c.2723G>T p.R908L missense 0.00000824●●●●●●
495. 7576624 c.2728G>T p.D910Y missense 0.00000824●●●●●●
496. 7576628 c.2732C>T p.S911F missense 0.00000824●●●●●●
497. 7576631 c.2735T>C p.L912S missense 0.00003296●●●●●●
498. 7576640 c.2744T>A p.M915K missense 0.00000824●●●●●●
499. 7576642 c.2746A>G p.K916E missense 0.00000824●●●●●●
500. 7576659 c.2763C>G p.N921K missense 0.00000824●●●●●●
501. 7576661 c.2765C>T p.T922I missense 0.00021431●●●●●●
502. 7576667 c.2771T>C p.M924T missense 0.00003298●●●●●●
503. 7577192 c.2794A>G p.N932D missense 0.00001675●●●●●●
504. 7577220 c.2822G>A p.R941Q missense 0.00000830●●●●●●
505. 7577238 c.2840T>C p.V947A missense 0.00001661●●●●●●
506. 7577241 c.2843A>C p.Q948P missense 0.00000831●●●●●●
507. 7577246 c.2848A>G p.I950V missense 0.00001664●●●●●●
508. 7577247 c.2849T>A p.I950N missense 0.00000834●●●●●●
509. 7577248 c.2850T>G p.I950M missense 0.00000834●●●●●●
510. 7577252 c.2854G>A p.E952K missense 0.00000834●●●●●●
511. 7577256 c.2858T>C p.L953P missense 0.00001675●●●●●●
512. 7577258 c.2860T>C p.C954R missense 0.00000838●●●●●●
513. 7577259 c.2861G>A p.C954Y missense 0.00000838●●●●●●
514. 7578021 c.2887C>T p.L963F missense 0.00000824●●●●●●
515. 7578066 c.2932A>G p.I978V missense 0.00000824●●●●●●
516. 7578075 c.2941A>G p.K981E missense 0.00002471●●●●●●
517. 7578093 c.2959T>A p.S987T missense 0.00004119●●●●●●
518. 7578096 c.2962C>T p.P988S missense 0.00000824●●●●●●
519. 7578100 c.2966C>T p.S989F missense 0.00000824●●●●●●
520. 7578111 c.2977C>G p.L993V missense 0.00000824●●●●●●
521. 7578116 c.2982A>C p.Q994H missense 0.00000824●●●●●●
522. 7578704 c.2993A>T p.D998V missense 0.00000825●●●●●●
523. 7578705 c.2994T>G p.D998E missense 0.00000825●●●●●●
524. 7578710 c.2999A>G p.H1000R missense 0.00000824●●●●●●
525. 7578715 c.3004C>T p.R1002W missense 0.00004121●●●●●●
526. 7578716 c.3005G>C p.R1002P missense 0.00000824●●●●●●
527. 7578749 c.3038A>G p.Y1013C missense 0.00000824●●●●●●
528. 7578769 c.3058A>T p.M1020L missense 0.00000824●●●●●●
529. 7578770 c.3059T>C p.M1020T missense 0.00000824●●●●●●
530. 7578778 c.3067A>C p.S1023R missense 0.00000824●●●●●●
531. 7579526 c.3103G>C p.E1035Q missense 0.00001696●●●●●●
532. 7579560 c.3137A>T p.D1046V missense 0.00001669●●●●●●
533. 7579560 c.3137A>G p.D1046G missense 0.00000834●●●●●●
534. 7579569 c.3146C>T p.S1049L missense 0.00005836●●●●●●
535. 7579569 c.3146C>G p.S1049W missense 0.00000834●●●●●●
536. 7579590 c.3167A>G p.K1056R missense 0.00002497●●●●●●
537. 7579644 c.3221C>T p.A1074V missense 0.00000831●●●●●●
538. 7579649 c.3226C>T p.L1076F missense 0.00002491●●●●●●
539. 7579698 c.3275C>T p.S1092L missense 0.00008302●●●●●●
540. 7579721 c.3298T>C p.C1100R missense 0.00000830●●●●●●
541. 7579746 c.3323A>G p.N1108S missense 0.00002494●●●●●●
542. 7579760 c.3337C>G p.R1113G missense 0.00000832●●●●●●
543. 7579761 c.3338G>A p.R1113Q missense 0.00004991●●●●●●
544. 7579766 c.3343A>G p.T1115A missense 0.00001664●●●●●●
545. 7579770 c.3347A>T p.Y1116F missense 0.00000832●●●●●●
546. 7579796 c.3373A>G p.R1125G missense 0.00000832●●●●●●
547. 7579811 c.3388G>A p.D1130N missense 0.00002497●●●●●●
548. 7579816 c.3393A>T p.R1131S missense 0.00000832●●●●●●
549. 7579827 c.3404A>C p.Q1135P missense 0.00000832●●●●●●
550. 7579879 c.3456C>A p.N1152K missense 0.00000835●●●●●●
551. 7579896 c.3473T>C p.L1158S missense 0.00000836●●●●●●
552. 7579926 c.3503A>G p.E1168G missense 0.00000838●●●●●●
553. 7579935 c.3512T>C p.I1171T missense 0.00000839●●●●●●
554. 7579953 c.3530T>A p.L1177Q missense 0.00003359●●●●●●
555. 7579973 c.3550C>T p.R1184W missense 0.00000842●●●●●●
556. 7579996 c.3573G>C p.E1191D missense 0.00001678●●●●●●
557. 7580024 c.3601G>A p.E1201K missense 0.00000835●●●●●●
558. 7580032 c.3609G>A p.M1203I missense 0.00000834●●●●●●
559. 7580033 c.3610A>G p.S1204G missense 0.00000833●●●●●●
560. 7580067 c.3644A>G p.N1215S missense 0.00000829●●●●●●
561. 7580072 c.3649A>T p.T1217S missense 0.00000829●●●●●●
562. 7580077 c.3654G>C p.K1218N missense 0.00001659●●●●●●
563. 7580078 c.3655A>G p.T1219A missense 0.00000829●●●●●●
564. 7580099 c.3676A>G p.M1226V missense 0.00000830●●●●●●
565. 7580108 c.3685G>A p.E1229K missense 0.00000830●●●●●●
566. 7580135 c.3712C>A p.Q1238K missense 0.00000831●●●●●●
567. 7580138 c.3715C>T p.L1239F missense 0.00000832●●●●●●
568. 7580183 c.3760G>A p.V1254I missense 0.00003329●●●●●●
569. 7580187 c.3764G>C p.R1255T missense 0.00001665●●●●●●
570. 7580189 c.3766C>T p.L1256F missense 0.00002496●●●●●●
571. 7580198 c.3775A>G p.S1259G missense 0.00000832●●●●●●
572. 7580220 c.3797A>G p.Q1266R missense 0.00000832●●●●●●
573. 7580223 c.3800G>A p.R1267Q missense 0.00002496●●●●●●
574. 7580231 c.3808G>A p.A1270T missense 0.00000832●●●●●●
575. 7580258 c.3835G>A p.A1279T missense 0.00000831●●●●●●
576. 7580259 c.3836C>T p.A1279V missense 0.00009142●●●●●●
577. 7580265 c.3842G>C p.G1281A missense 0.00000831●●●●●●
578. 7580268 c.3845C>G p.S1282C missense 0.00000831●●●●●●
579. 7580271 c.3848A>C p.E1283A missense 0.00001662●●●●●●
580. 7580301 c.3878T>C p.I1293T missense 0.00001660●●●●●●
581. 7580302 c.3879A>G p.I1293M missense 0.00000830●●●●●●
582. 7580327 c.3904C>T p.R1302C missense 0.00001660●●●●●●
583. 7580328 c.3905G>A p.R1302H missense 0.00002490●●●●●●
584. 7580335 c.3912G>C p.E1304D missense 0.00000830●●●●●●
585. 7580338 c.3915C>G p.D1305E missense 0.00000830●●●●●●
586. 7580379 c.3956C>G p.T1319S missense 0.00005810●●●●●●
587. 7580394 c.3971A>T p.N1324I missense 0.00000830●●●●●●
588. 7580405 c.3982G>A p.E1328K missense 0.00000830●●●●●●
589. 7580418 c.3995C>T p.A1332V missense 0.00002488●●●●●●
590. 7580441 c.4018C>T p.R1340C missense 0.00008295●●●●●●
591. 7580441 c.4018C>G p.R1340G missense 0.00000830●●●●●●
592. 7580441 c.4018C>A p.R1340S missense 0.00000830●●●●●●
593. 7580442 c.4019G>A p.R1340H missense 0.00003318●●●●●●
594. 7580460 c.4037A>G p.N1346S missense 0.00000829●●●●●●
595. 7580478 c.4055G>A p.R1352K missense 0.00000829●●●●●●
596. 7580481 c.4058A>G p.N1353S missense 0.00000829●●●●●●
597. 7580484 c.4061A>G p.N1354S missense 0.00001658●●●●●●
598. 7580525 c.4102A>G p.T1368A missense 0.00002486●●●●●●
599. 7580541 c.4118C>T p.T1373I missense 0.00000828●●●●●●
600. 7580562 c.4139T>G p.L1380R missense 0.00000827●●●●●●
601. 7580565 c.4142C>G p.T1381S missense 0.00001654●●●●●●
602. 7580589 c.4166G>T p.S1389I missense 0.00001653●●●●●●
603. 7580598 c.4175G>C p.R1392P missense 0.00000827●●●●●●
604. 7580601 c.4178C>A p.A1393D missense 0.00000827●●●●●●
605. 7580613 c.4190A>G p.N1397S missense 0.00001653●●●●●●
606. 7580624 c.4201G>C p.E1401Q missense 0.00000827●●●●●●
607. 7580656 c.4233G>C p.R1411S missense 0.00003306●●●●●●
608. 7580675 c.4252C>G p.Q1418E missense 0.00000826●●●●●●
609. 7580697 c.4274G>A p.R1425K missense 0.00001651●●●●●●
610. 7580726 c.4303G>C p.A1435P missense 0.00000825●●●●●●
611. 7580729 c.4306A>G p.T1436A missense 0.00000825●●●●●●
612. 7580808 c.4385G>T p.S1462I missense 0.00006626●●●●●●
613. 7580828 c.4405C>T p.L1469F missense 0.00001658●●●●●●
614. 7580837 c.4414G>T p.A1472S missense 0.00003318●●●●●●
615. 7580844 c.4421A>G p.K1474R missense 0.00000830●●●●●●
616. 7580856 c.4433A>G p.D1478G missense 0.00000830●●●●●●
617. 7580871 c.4448T>C p.I1483T missense 0.00000831●●●●●●
618. 7580880 c.4457T>C p.L1486S missense 0.00001663●●●●●●
619. 7580889 c.4466T>G p.L1489R missense 0.00000831●●●●●●
620. 7580894 c.4471G>A p.D1491N missense 0.00002495●●●●●●
621. 7580895 c.4472A>G p.D1491G missense 0.00000832●●●●●●
622. 7580895 c.4472A>T p.D1491V missense 0.00000832●●●●●●
623. 7580901 c.4478A>C p.E1493A missense 0.00001663●●●●●●
624. 7580910 c.4487A>T p.D1496V missense 0.00001664●●●●●●
625. 7580910 c.4487A>G p.D1496G missense 0.00000832●●●●●●
626. 7580913 c.4490G>A p.R1497Q missense 0.00009986●●●●●●
627. 7580957 c.4534T>C p.Y1512H missense 0.00000832●●●●●●
628. 7580981 c.4558A>T p.S1520C missense 0.00004994●●●●●●
629. 7580981 c.4558A>G p.S1520G missense 0.00005826●●●●●●
630. 7581027 c.4604T>A p.L1535Q missense 0.00000833●●●●●●
631. 7581033 c.4610G>A p.R1537H missense 0.00003331●●●●●●
632. 7581039 c.4616G>C p.R1539T missense 0.00000833●●●●●●
633. 7581044 c.4621G>A p.D1541N missense 0.00000833●●●●●●
634. 7581055 c.4632G>T p.R1544S missense 0.00000833●●●●●●
635. 7581056 c.4633G>A p.V1545I missense 0.00000833●●●●●●
636. 7581057 c.4634T>C p.V1545A missense 0.00000833●●●●●●
637. 7581063 c.4640A>C p.Q1547P missense 0.00000833●●●●●●
638. 7581080 c.4657G>A p.D1553N missense 0.00002500●●●●●●
639. 7581093 c.4670C>T p.T1557M missense 0.00000834●●●●●●
640. 7581096 c.4673G>A p.R1558Q missense 0.00003336●●●●●●
641. 7581158 c.4735C>T p.R1579W missense 0.00000836●●●●●●
642. 7581159 c.4736G>A p.R1579Q missense 0.00000836●●●●●●
643. 7581171 c.4748C>G p.T1583S missense 0.00000838●●●●●●
644. 7581173 c.4750G>C p.A1584P missense 0.00000838●●●●●●
645. 7581174 c.4751C>T p.A1584V missense 0.00000838●●●●●●
646. 7581177 c.4754C>T p.S1585L missense 0.00000839●●●●●●
647. 7581213 c.4790A>C p.E1597A missense 0.00000841●●●●●●
648. 7581228 c.4805G>A p.R1602K missense 0.00000843●●●●●●
649. 7581234 c.4811C>T p.S1604L missense 0.00000844●●●●●●
650. 7581242 c.4819G>A p.E1607K missense 0.00000844●●●●●●
651. 7581290 c.4867T>C p.S1623P missense 0.00000845●●●●●●
652. 7581294 c.4871T>C p.I1624T missense 0.00001689●●●●●●
653. 7581302 c.4879A>G p.K1627E missense 0.00000844●●●●●●
654. 7581304 c.4881G>T p.K1627N missense 0.00001688●●●●●●
655. 7581317 c.4894G>C p.D1632H missense 0.00000842●●●●●●
656. 7581317 c.4894G>A p.D1632N missense 0.00000842●●●●●●
657. 7581324 c.4901G>T p.R1634L missense 0.00001683●●●●●●
658. 7581345 c.4922A>G p.D1641G missense 0.00000836●●●●●●
659. 7581360 c.4937A>G p.E1646G missense 0.00001670●●●●●●
660. 7581414 c.4991T>G p.L1664R missense 0.00002497●●●●●●
661. 7581416 c.4993A>G p.R1665G missense 0.00000832●●●●●●
662. 7581419 c.4996C>T p.R1666W missense 0.00006658●●●●●●
663. 7581420 c.4997G>A p.R1666Q missense 0.00003329●●●●●●
664. 7581429 c.5006T>A p.L1669H missense 0.00000832●●●●●●
665. 7581433 c.5010G>C p.Q1670H missense 0.00000832●●●●●●
666. 7581442 c.5019A>T p.E1673D missense 0.00000832●●●●●●
667. 7581458 c.5035C>T p.H1679Y missense 0.00000832●●●●●●
668. 7581470 c.5047G>A p.E1683K missense 0.00000832●●●●●●
669. 7581484 c.5061G>C p.K1687N missense 0.00000832●●●●●●
670. 7581485 c.5062G>A p.A1688T missense 0.00005822●●●●●●
671. 7581494 c.5071G>A p.D1691N missense 0.00000832●●●●●●
672. 7581543 c.5120A>G p.Q1707R missense 0.00000830●●●●●●
673. 7581546 c.5123C>G p.S1708C missense 0.00000829●●●●●●
674. 7581561 c.5138T>C p.L1713P missense 0.00000829●●●●●●
675. 7581582 c.5159T>C p.L1720S missense 0.00000828●●●●●●
676. 7581603 c.5180T>C p.L1727P missense 0.00000827●●●●●●
677. 7581606 c.5183G>A p.R1728K missense 0.00003307●●●●●●
678. 7581617 c.5194G>A p.D1732N missense 0.00001653●●●●●●
679. 7581644 c.5221G>A p.A1741T missense 0.00007431●●●●●●
680. 7581645 c.5222C>T p.A1741V missense 0.00008256●●●●●●
681. 7581670 c.5247C>G p.I1749M missense 0.00000826●●●●●●
682. 7581680 c.5257A>T p.R1753W missense 0.00000826●●●●●●
683. 7581684 c.5261G>A p.S1754N missense 0.00000826●●●●●●
684. 7581708 c.5285G>A p.R1762Q missense 0.00001655●●●●●●
685. 7581713 c.5290C>G p.L1764V missense 0.00000828●●●●●●
686. 7581714 c.5291T>A p.L1764Q missense 0.00000828●●●●●●
687. 7581714 c.5291T>C p.L1764P missense 0.00000828●●●●●●
688. 7581732 c.5309T>C p.I1770T missense 0.00000831●●●●●●
689. 7582878 c.5383T>A p.S1795T missense 0.00000827●●●●●●
690. 7582885 c.5390G>C p.R1797T missense 0.00000826●●●●●●
691. 7582890 c.5395C>G p.Q1799E missense 0.00000825●●●●●●
692. 7582907 c.5412G>T p.Q1804H missense 0.00003297●●●●●●
693. 7582908 c.5413T>G p.C1805G missense 0.00000824●●●●●●
694. 7582909 c.5414G>A p.C1805Y missense 0.00003297●●●●●●
695. 7582974 c.5479G>A p.A1827T missense 0.00000824●●●●●●
696. 7582980 c.5485C>G p.L1829V missense 0.00000824●●●●●●
697. 7582993 c.5498A>G p.E1833G missense 0.00006610●●●●●●
698. 7583081 c.5586T>G p.N1862K missense 0.00000824●●●●●●
699. 7583089 c.5594A>G p.N1865S missense 0.00000824●●●●●●
700. 7583093 c.5598G>C p.Q1866H missense 0.00000824●●●●●●
701. 7583104 c.5609A>G p.Q1870R missense 0.00000824●●●●●●
702. 7583113 c.5618G>A p.R1873H missense 0.00004120●●●●●●
703. 7583151 c.5656G>C p.E1886Q missense 0.00000825●●●●●●
704. 7583163 c.5668A>G p.R1890G missense 0.00001650●●●●●●
705. 7583164 c.5669G>C p.R1890T missense 0.00000825●●●●●●
706. 7583164 c.5669G>A p.R1890K missense 0.00000825●●●●●●
707. 7583182 c.5687G>C p.R1896T missense 0.00000826●●●●●●
708. 7583193 c.5698G>A p.E1900K missense 0.00001652●●●●●●
709. 7583216 c.5721G>C p.K1907N missense 0.00001653●●●●●●
710. 7583217 c.5722A>G p.R1908G missense 0.00000826●●●●●●
711. 7583221 c.5726T>C p.I1909T missense 0.00000826●●●●●●
712. 7583289 c.5794C>T p.R1932C missense 0.00004139●●●●●●
713. 7583290 c.5795G>A p.R1932H missense 0.00002483●●●●●●
714. 7583299 c.5804A>G p.Y1935C missense 0.00000828●●●●●●
715. 7583303 c.5808G>C p.Q1936H missense 0.00000828●●●●●●
716. 7583329 c.5834G>A p.R1945H missense 0.00000828●●●●●●
717. 7583334 c.5839T>C p.Y1947H missense 0.00000828●●●●●●
718. 7583359 c.5864C>T p.T1955I missense 0.00000828●●●●●●
719. 7583377 c.5882T>G p.V1961G missense 0.00001654●●●●●●
720. 7583394 c.5899G>A p.V1967M missense 0.00000827●●●●●●
721. 7583416 c.5921A>T p.K1974M missense 0.00000826●●●●●●
722. 7583427 c.5932A>G p.M1978V missense 0.00000826●●●●●●
723. 7583430 c.5935C>G p.Q1979E missense 0.00000825●●●●●●
724. 7583446 c.5951A>T p.Q1984L missense 0.00000825●●●●●●
725. 7583453 c.5958C>G p.I1986M missense 0.00000825●●●●●●
726. 7583454 c.5959G>A p.D1987N missense 0.00002476●●●●●●
727. 7583458 c.5963A>G p.K1988R missense 0.00000825●●●●●●
728. 7583467 c.5972T>C p.L1991S missense 0.00001651●●●●●●
729. 7583471 c.5976C>A p.D1992E missense 0.00001652●●●●●●
730. 7583509 c.6014C>T p.A2005V missense 0.00000827●●●●●●
731. 7583523 c.6028C>T p.P2010S missense 0.00001655●●●●●●
732. 7583529 c.6034C>T p.L2012F missense 0.00000828●●●●●●
733. 7583532 c.6037C>T p.R2013W missense 0.00001655●●●●●●
734. 7583542 c.6047G>A p.G2016E missense 0.00000828●●●●●●
735. 7583550 c.6055G>A p.A2019T missense 0.00000828●●●●●●
736. 7583557 c.6062C>G p.A2021G missense 0.00000828●●●●●●
737. 7583557 c.6062C>A p.A2021E missense 0.00000828●●●●●●
738. 7583562 c.6067G>T p.A2023S missense 0.00000828●●●●●●
739. 7583563 c.6068C>G p.A2023G missense 0.00000828●●●●●●
740. 7583566 c.6071C>T p.S2024F missense 0.00000828●●●●●●
741. 7583574 c.6079G>A p.E2027K missense 0.00000828●●●●●●
742. 7583580 c.6085T>A p.Y2029N missense 0.00000829●●●●●●
743. 7583581 c.6086A>G p.Y2029C missense 0.00000829●●●●●●
744. 7583587 c.6092T>C p.L2031S missense 0.00001658●●●●●●
745. 7583592 c.6097G>A p.E2033K missense 0.00000829●●●●●●
746. 7583612 c.6117A>T p.L2039F missense 0.00000830●●●●●●
747. 7583614 c.6119T>G p.I2040S missense 0.00000830●●●●●●
748. 7583632 c.6137T>G p.V2046G missense 0.00000831●●●●●●
749. 7583682 c.6187C>T p.R2063W missense 0.00000833●●●●●●
750. 7583700 c.6205G>A p.V2069I missense 0.00000832●●●●●●
751. 7583718 c.6223C>T p.R2075W missense 0.00002494●●●●●●
752. 7583719 c.6224G>A p.R2075Q missense 0.00000831●●●●●●
753. 7583724 c.6229C>G p.L2077V missense 0.00000830●●●●●●
754. 7583736 c.6241G>A p.D2081N missense 0.00000830●●●●●●
755. 7583743 c.6248G>A p.R2083H missense 0.00000829●●●●●●
756. 7583754 c.6259T>C p.Y2087H missense 0.00000828●●●●●●
757. 7583757 c.6262G>T p.A2088S missense 0.00000828●●●●●●
758. 7583764 c.6269A>G p.E2090G missense 0.00001655●●●●●●
759. 7583785 c.6290A>G p.D2097G missense 0.00000827●●●●●●
760. 7583840 c.6345G>T p.L2115F missense 0.00007437●●●●●●
761. 7583841 c.6346A>G p.I2116V missense 0.00000826●●●●●●
762. 7583862 c.6367C>A p.R2123S missense 0.00000826●●●●●●
763. 7583872 c.6377A>G p.E2126G missense 0.00000826●●●●●●
764. 7583879 c.6384G>C p.Q2128H missense 0.00000826●●●●●●
765. 7583880 c.6385A>G p.I2129V missense 0.00000826●●●●●●
766. 7583890 c.6395G>A p.G2132E missense 0.00001653●●●●●●
767. 7583892 c.6397G>T p.G2133C missense 0.00000827●●●●●●
768. 7583910 c.6415A>G p.N2139D missense 0.00000826●●●●●●
769. 7583911 c.6416A>G p.N2139S missense 0.00004132●●●●●●
770. 7583959 c.6464A>G p.D2155G missense 0.00003302●●●●●●
771. 7583992 c.6497G>A p.R2166Q missense 0.00000824●●●●●●
772. 7584021 c.6526G>C p.V2176L missense 0.00000824●●●●●●
773. 7584021 c.6526G>T p.V2176F missense 0.00000824●●●●●●
774. 7584037 c.6542T>C p.V2181A missense 0.00001647●●●●●●
775. 7584042 c.6547T>G p.Y2183D missense 0.00000824●●●●●●
776. 7584045 c.6550G>A p.V2184M missense 0.00002471●●●●●●
777. 7584059 c.6564A>C p.E2188D missense 0.00000824●●●●●●
778. 7584060 c.6565C>T p.R2189W missense 0.00005766●●●●●●
779. 7584061 c.6566G>A p.R2189Q missense 0.00003295●●●●●●
780. 7584085 c.6590G>A p.G2197D missense 0.00000824●●●●●●
781. 7584087 c.6592C>G p.L2198V missense 0.00000824●●●●●●
782. 7584096 c.6601C>T p.L2201F missense 0.00000824●●●●●●
783. 7584102 c.6607G>C p.V2203L missense 0.00000824●●●●●●
784. 7584125 c.6630C>A p.F2210L missense 0.00000824●●●●●●
785. 7584184 c.6689C>T p.P2230L missense 0.00004119●●●●●●
786. 7584219 c.6724T>C p.S2242P missense 0.00000825●●●●●●
787. 7584227 c.6732C>G p.D2244E missense 0.00000825●●●●●●
788. 7584260 c.6765G>T p.Q2255H missense 0.00003301●●●●●●
789. 7584260 c.6765G>C p.Q2255H missense 0.00000825●●●●●●
790. 7584271 c.6776G>A p.C2259Y missense 0.00000825●●●●●●
791. 7584282 c.6787A>G p.I2263V missense 0.00000824●●●●●●
792. 7584397 c.6902T>C p.I2301T missense 0.00001647●●●●●●
793. 7584427 c.6932C>T p.P2311L missense 0.00001647●●●●●●
794. 7584448 c.6953G>C p.R2318T missense 0.00000824●●●●●●
795. 7584451 c.6956G>A p.G2319D missense 0.00000824●●●●●●
796. 7584456 c.6961G>A p.V2321M missense 0.00000824●●●●●●
797. 7584479 c.6984G>T p.K2328N missense 0.00000824●●●●●●
798. 7584484 c.6989T>G p.L2330R missense 0.00000824●●●●●●
799. 7584526 c.7031C>G p.T2344R missense 0.00000824●●●●●●
800. 7584528 c.7033G>C p.G2345R missense 0.00003296●●●●●●
801. 7584534 c.7039A>C p.I2347L missense 0.00001648●●●●●●
802. 7584536 c.7041C>G p.I2347M missense 0.00000824●●●●●●
803. 7584541 c.7046C>G p.S2349C missense 0.00001648●●●●●●
804. 7584562 c.7067A>C p.K2356T missense 0.00000824●●●●●●
805. 7584570 c.7075A>G p.I2359V missense 0.00001648●●●●●●
806. 7584648 c.7153C>T p.R2385C missense 0.00000824●●●●●●
807. 7584655 c.7160C>T p.P2387L missense 0.00000824●●●●●●
808. 7584672 c.7177A>C p.K2393Q missense 0.00000824●●●●●●
809. 7584679 c.7184G>A p.G2395D missense 0.00001649●●●●●●
810. 7584708 c.7213C>A p.L2405I missense 0.00000825●●●●●●
811. 7584730 c.7235C>A p.T2412N missense 0.00000826●●●●●●
812. 7584744 c.7249G>T p.D2417Y missense 0.00000826●●●●●●
813. 7584774 c.7279C>A p.L2427M missense 0.00001653●●●●●●
814. 7584802 c.7307A>C p.D2436A missense 0.00000827●●●●●●
815. 7584836 c.7341A>C p.K2447N missense 0.00000827●●●●●●
816. 7584859 c.7364C>T p.T2455I missense 0.00004132●●●●●●
817. 7584869 c.7374G>T p.K2458N missense 0.00000826●●●●●●
818. 7584885 c.7390C>T p.R2464C missense 0.00001652●●●●●●
819. 7584891 c.7396G>A p.V2466M missense 0.00000826●●●●●●
820. 7584960 c.7465G>A p.D2489N missense 0.00000824●●●●●●
821. 7584963 c.7468T>C p.Y2490H missense 0.00000824●●●●●●
822. 7584996 c.7501T>C p.C2501R missense 0.00000824●●●●●●
823. 7585002 c.7507T>A p.W2503R missense 0.00000824●●●●●●
824. 7585033 c.7538G>A p.G2513D missense 0.00000824●●●●●●
825. 7585039 c.7544C>G p.T2515S missense 0.00000824●●●●●●
826. 7585044 c.7549G>T p.V2517L missense 0.00000824●●●●●●
827. 7585047 c.7552G>A p.V2518I missense 0.00001647●●●●●●
828. 7585057 c.7562A>G p.D2521G missense 0.00001647●●●●●●
829. 7585078 c.7583A>G p.Y2528C missense 0.00000824●●●●●●
830. 7585084 c.7589T>C p.I2530T missense 0.00004118●●●●●●
831. 7585087 c.7592A>C p.Q2531P missense 0.00000824●●●●●●
832. 7585096 c.7601T>C p.I2534T missense 0.00000824●●●●●●
833. 7585102 c.7607A>T p.K2536M missense 0.00000824●●●●●●
834. 7585110 c.7615G>A p.V2539I missense 0.00000824●●●●●●
835. 7585113 c.7618G>A p.D2540N missense 0.00001647●●●●●●
836. 7585125 c.7630T>G p.F2544V missense 0.00000824●●●●●●
837. 7585143 c.7648G>C p.G2550R missense 0.00001647●●●●●●
838. 7585143 c.7648G>A p.G2550S missense 0.00000824●●●●●●
839. 7585159 c.7664C>T p.T2555I missense 0.00000824●●●●●●
840. 7585174 c.7679T>C p.M2560T missense 0.00000824●●●●●●
841. 7585201 c.7706C>T p.T2569I missense 0.00004119●●●●●●
842. 7585222 c.7727G>T p.G2576V missense 0.00000824●●●●●●
843. 7585225 c.7730T>C p.V2577A missense 0.00000824●●●●●●
844. 7585229 c.7734C>G p.S2578R missense 0.00000824●●●●●●
845. 7585230 c.7735G>A p.D2579N missense 0.00001648●●●●●●
846. 7585240 c.7745T>G p.F2582C missense 0.00001648●●●●●●
847. 7585245 c.7750A>G p.S2584G missense 0.00000824●●●●●●
848. 7585255 c.7760A>G p.H2587R missense 0.00000824●●●●●●
849. 7585273 c.7778T>G p.I2593S missense 0.00000825●●●●●●
850. 7585282 c.7787T>C p.I2596T missense 0.00000825●●●●●●
851. 7585299 c.7804T>G p.L2602V missense 0.00000826●●●●●●
852. 7585318 c.7823C>A p.S2608Y missense 0.00000827●●●●●●
853. 7585345 c.7850G>A p.S2617N missense 0.00000828●●●●●●
854. 7585350 c.7855A>G p.I2619V missense 0.00001656●●●●●●
855. 7585359 c.7864A>G p.I2622V missense 0.00001657●●●●●●
856. 7585380 c.7885G>A p.E2629K missense 0.00000829●●●●●●
857. 7585413 c.7918G>T p.G2640C missense 0.00000829●●●●●●
858. 7585429 c.7934T>C p.I2645T missense 0.00001657●●●●●●
859. 7585435 c.7940G>A p.G2647D missense 0.00000828●●●●●●
860. 7585443 c.7948C>T p.L2650F missense 0.00000829●●●●●●
861. 7585458 c.7963G>T p.A2655S missense 0.00000829●●●●●●
862. 7585468 c.7973G>T p.G2658V missense 0.00000829●●●●●●
863. 7585481 c.7986C>A p.H2662Q missense 0.00014088●●●●●●
864. 7585492 c.7997G>A p.G2666D missense 0.00000829●●●●●●
865. 7585496 c.8001G>C p.Q2667H missense 0.00000828●●●●●●
866. 7585516 c.8021C>G p.A2674G missense 0.00000828●●●●●●
867. 7585525 c.8030A>G p.Q2677R missense 0.00001655●●●●●●
868. 7585528 c.8033G>A p.G2678D missense 0.00000827●●●●●●
869. 7585537 c.8042A>C p.D2681A missense 0.00003308●●●●●●
870. 7585539 c.8044C>G p.Q2682E missense 0.00002481●●●●●●
871. 7585548 c.8053G>T p.A2685S missense 0.00000827●●●●●●
872. 7585557 c.8062C>G p.L2688V missense 0.00000827●●●●●●
873. 7585557 c.8062C>A p.L2688M missense 0.00000827●●●●●●
874. 7585564 c.8069C>G p.P2690R missense 0.00000826●●●●●●
875. 7585579 c.8084T>A p.F2695Y missense 0.00000826●●●●●●
876. 7585613 c.8118G>C p.K2706N missense 0.00002474●●●●●●
877. 7585615 c.8120T>C p.M2707T missense 0.00000825●●●●●●
878. 7585621 c.8126C>T p.A2709V missense 0.00001649●●●●●●
879. 7585627 c.8132A>G p.E2711G missense 0.00000824●●●●●●
880. 7585658 c.8163G>T p.E2721D missense 0.00000825●●●●●●
881. 7585711 c.8216C>T p.P2739L missense 0.00000825●●●●●●
882. 7585716 c.8221G>A p.V2741M missense 0.00000825●●●●●●
883. 7585719 c.8224C>T p.H2742Y missense 0.00000825●●●●●●
884. 7585728 c.8233A>G p.I2745V missense 0.00003301●●●●●●
885. 7585730 c.8235A>G p.I2745M missense 0.00000825●●●●●●
886. 7585733 c.8238C>G p.S2746R missense 0.00000825●●●●●●
887. 7585750 c.8255G>A p.R2752Q missense 0.00000826●●●●●●
888. 7585774 c.8279C>T p.A2760V missense 0.00001651●●●●●●
889. 7585793 c.8298C>G p.D2766E missense 0.00000825●●●●●●
890. 7585809 c.8314A>G p.K2772E missense 0.00000825●●●●●●
891. 7585838 c.8343A>T p.L2781F missense 0.00000825●●●●●●
892. 7585849 c.8354A>G p.Y2785C missense 0.00001649●●●●●●
893. 7585858 c.8363C>T p.A2788V missense 0.00000824●●●●●●
894. 7585864 c.8369A>G p.N2790S missense 0.00000824●●●●●●
895. 7585867 c.8372G>A p.R2791H missense 0.00000824●●●●●●
896. 7585869 c.8374T>A p.S2792T missense 0.00003298●●●●●●
897. 7585885 c.8390T>C p.I2797T missense 0.00003299●●●●●●
898. 7585887 c.8392A>G p.T2798A missense 0.00000825●●●●●●
899. 7585896 c.8401C>G p.R2801G missense 0.00002475●●●●●●
900. 7585897 c.8402G>A p.R2801H missense 0.00000825●●●●●●
901. 7585899 c.8404C>T p.L2802F missense 0.00000825●●●●●●
902. 7585926 c.8431A>G p.K2811E missense 0.00000826●●●●●●
903. 7585936 c.8441C>G p.P2814R missense 0.00000827●●●●●●
904. 7585954 c.8459C>T p.S2820F missense 0.00000828●●●●●●
905. 7585987 c.8492C>T p.S2831L missense 0.00000835●●●●●●
906. 7585989 c.8494G>A p.G2832R missense 0.00000835●●●●●●
907. 7585990 c.8495G>T p.G2832V missense 0.00000835●●●●●●
908. 7585993 c.8498C>G p.S2833C missense 0.00001671●●●●●●
909. 7586001 c.8506G>A p.G2836R missense 0.00000837●●●●●●
910. 7586002 c.8507G>A p.G2836E missense 0.00005016●●●●●●
911. 7586007 c.8512C>T p.R2838C missense 0.00001674●●●●●●
912. 7586011 c.8516C>G p.S2839C missense 0.00000838●●●●●●
913. 7586013 c.8518G>T p.G2840W missense 0.00000837●●●●●●
914. 7586026 c.8531G>C p.G2844A missense 0.00000836●●●●●●
915. 7586032 c.8537G>A p.R2846Q missense 0.00000836●●●●●●
916. 7586055 c.8560G>C p.G2854R missense 0.00000836●●●●●●
917. 7586059 c.8564A>T p.N2855I missense 0.00000836●●●●●●
918. 7586085 c.8590T>C p.F2864L missense 0.00002525●●●●●●
919. 7580603 c.4180C>T p.Q1394X nonsense 0.00000826●●●●●●
920. 7568676 c.1273C>T p.R425X nonsense 0.00000824●●●●●●
921. 7584495 c.7000C>T p.R2334X nonsense 0.00001648●●●●●●
922. 7580228 c.3805C>T p.R1269X nonsense 0.00000832●●●●●●
923. 7583973 c.6478C>T p.R2160X nonsense 0.00000825●●●●●●
924. 7580621 c.4198C>T p.R1400X nonsense 0.00000827●●●●●●
925. 7580285 c.3862A>T p.K1288X nonsense 0.00000830●●●●●●
926. 7580288 c.3865C>T p.Q1289X nonsense 0.00000830●●●●●●
927. 7580795 c.4372C>T p.R1458X nonsense 0.00000827●●●●●●
928. 7580954 c.4531C>T p.Q1511X nonsense 0.00003330●●●●●●
929. 7556058 c.273+5G>A splice site 0.00035156●●●●●●
930. 7568145 c.1266+6G>T splice site 0.00059123●●●●●●
931. 7571824 c.1903+7T>C splice site 0.00703713●●●●●●
932. 7576527 c.2631G>A p.R877R splice site 0.77179183●●●●●●
933. 7556063 c.273+10C>T splice site 0.02513941●●●●●●
934. 7563020 c.726+7G>C splice site 0.00010710●●●●●●
935. 7563971 c.729C>T p.R243R splice site 0.00014005●●●●●●
936. 7578691 c.2986-6T>A splice site 0.00035525●●●●●●
937. 7567579 c.1045-8T>C splice site 0.00000824●●●●●●
938. 7569580 c.1574+7C>T splice site 0.00004118●●●●●●
939. 7577194 c.2796C>T p.N932N splice site 0.00005854●●●●●●
940. 7577187 c.2794-5_2794-4insA splice site 0.00010119●●●●●●
941. 7556060 c.273+7T>C splice site 0.00000907●●●●●●
942. 7567688 c.1140+6T>C splice site 0.00009071●●●●●●
943. 7558345 c.274-4T>G splice site 0.00003295●●●●●●
944. 7558504 c.422+7delT splice site 0.00000942●●●●●●
945. 7558503 c.422+6G>T splice site 0.00000942●●●●●●
946. 7559453 c.423-6T>G splice site 0.00000828●●●●●●
947. 7562880 c.598-5C>T splice site 0.00003295●●●●●●
948. 7562881 c.598-4G>A splice site 0.00001647●●●●●●
949. 7562887 c.600G>C splice site 0.00000824●●●●●●
950. 7563017 c.726+4C>T splice site 0.00000824●●●●●●
951. 7563017 c.726+4C>G splice site 0.00000824●●●●●●
952. 7563962 c.727-7C>G splice site 0.00000824●●●●●●
953. 7564024 c.777+5G>A splice site 0.00000824●●●●●●
954. 7565753 c.939C>T splice site 0.00014011●●●●●●
955. 7565758 c.939+5G>T splice site 0.00000824●●●●●●
956. 7566717 c.1044+3A>G splice site 0.00000835●●●●●●
957. 7567584 c.1045-3C>T splice site 0.00002471●●●●●●
958. 7567688 c.1140+6T>A splice site 0.00000825●●●●●●
959. 7568145 c.1266+6G>A splice site 0.00006662●●●●●●
960. 7568829 c.1419+7A>T splice site 0.00000825●●●●●●
961. 7569571 c.1572C>T splice site 0.00000824●●●●●●
962. 7569581 c.1574+8A>G splice site 0.00000824●●●●●●
963. 7570666 c.1575-4T>G splice site 0.00000824●●●●●●
964. 7570800 c.1701+4T>C splice site 0.00001648●●●●●●
965. 7571820 c.1903+3C>T splice site 0.00000826●●●●●●
966. 7571821 c.1903+4G>A splice site 0.00004958●●●●●●
967. 7574312 c.2131-7T>C splice site 0.00000825●●●●●●
968. 7574314 c.2131-5G>C splice site 0.00006602●●●●●●
969. 7575520 c.2437-8T>C splice site 0.00000828●●●●●●
970. 7576522 c.2631-5C>T splice site 0.00003314●●●●●●
971. 7576696 c.2793+7G>A splice site 0.00000826●●●●●●
972. 7577186 c.2794-6G>A splice site 0.00001690●●●●●●
973. 7578008 c.2878-4G>A splice site 0.00003296●●●●●●
974. 7578119 c.2985G>A splice site 0.00001648●●●●●●
975. 7578127 c.2985+8T>C splice site 0.00000825●●●●●●
976. 7579505 c.3085-3C>T splice site 0.00000872●●●●●●
977. 7581810 c.5379+8C>A splice site 0.00002562●●●●●●
978. 7582871 c.5380-4C>G splice site 0.00000827●●●●●●
979. 7562883 c.598-2A>G essential splice site 0.00000824●●●●●●
980. 7562884 c.598-1G>C essential splice site 0.00000824●●●●●●
981. 7563014 c.726+1G>A essential splice site 0.00000824●●●●●●
982. 7574314 c.2131-5_2131-2delGACA essential splice site 0.00000825●●●●●●
983. 7575030 c.2436+2T>C essential splice site 0.00000824●●●●●●
984. 7583805 c.6310delA frameshift 0.00003306●●●●●●
985. 7559535 c.499delA p.Lys167ArgfsTer29 frameshift 0.00000824●●●●●●
986. 7559633 c.597_597+1insGTAA p.Ala200ValfsTer21 frameshift 0.00003300●●●●●●
987. 7570763 c.1668delC p.Asp556GlufsTer2 frameshift 0.00000824●●●●●●
988. 7574979 c.2387_2390delCTGT p.Val797AlafsTer14 frameshift 0.00000824●●●●●●
989. 7580155 c.3732_3733insGAAAATC p.Asp1248LysfsTer7 frameshift 0.00000832●●●●●●
990. 7580229 c.3806delG p.Arg1269GlnfsTer16 frameshift 0.00000832●●●●●●
991. 7580431 c.4008delG p.Glu1337ArgfsTer12 frameshift 0.00002488●●●●●●
992. 7580737 c.4314_4315delTG p.Glu1439GlyfsTer11 frameshift 0.00000825●●●●●●
993. 7585262 c.7767_7770delAGTA p.Ser2591ArgfsTer11 frameshift 0.00000824●●●●●●
994. 7585783 c.8288_8289insGCTT p.Gln2765AlafsTer23 frameshift 0.00000825●●●●●●
995. 7585967 c.8472_8473insCTCCGGC p.Ser2825LeufsTer29 frameshift 0.00000828●●●●●●
996. 7586077 c.8582delC p.Tyr2862ThrfsTer21 frameshift 0.00002520●●●●●●
997. 7575640 c.2549_2550insTCT p.D850delinsDL inframe 0.00003295●●●●●●
998. 7583167 c.5672_5674delAGA p.E1891_K1892delinsE inframe 0.00000825●●●●●●
999. 7584030 c.6535_6537delAAG p.K2179del1 inframe 0.00001648●●●●●●
1000. 7580280 c.3857_3859delAGA p.Lys1288del inframe 0.00000831●●●●●●
1001. 7580492 c.4069_4071delGAG p.Glu1357del inframe 0.00001658●●●●●●
1002. 7580647 c.4224_4226delAAT p.Ile1409del inframe 0.00000826●●●●●●
1003. 7581583 c.5160_5162delAGA p.Glu1723del inframe 0.00003311●●●●●●
1004. 7583316 c.5821_5826delAAACTC p.Lys1941_Leu1942del inframe 0.00000828●●●●●●
1005. 7584840 c.7345_7347delAAG p.Lys2449del inframe 0.00000827●●●●●●
1006. 7585605 c.8110_8112delAAG p.Lys2706del inframe 0.00051142●●●●●●
1007. 7585968 c.8473_8484delTCCCGCTCCGGC p.Ser2825_Gly2828del inframe 0.00004141●●●●●●
1008. 7585980 c.8485_8496delTCCCGCTCGGGA p.Ser2829_Gly2832del inframe 0.00005849●●●●●●
1009. 7585989 c.8494_8505delGGATCTCGCTCC p.Gly2832_Ser2835del inframe 0.00024222●●●●●●
1010. 7586000 c.8505_8506insGGATCTCGCTCC p.Ser2835_Gly2836insGlySerArgSer inframe 0.00005011●●●●●●
1011. 7585993 c.8498_8499insCCCGCTCCGGA p.Ser2835_Gly2836insGlySerArgSer inframe 0.00000835●●●●●●
1012. 7586022 c.8527_8538delAGTGGGTCCCGG p.Ser2843_Arg2846del inframe 0.00041825●●●●●●

* 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.