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. 7542150 c.2T>G p.Met1? missense 0.00001185●●●●●●
2. 7542159 c.11A>G p.N4S missense 0.00002374●●●●●●
3. 7542160 c.12C>G p.N4K missense 0.00497197●●●●●●
4. 7542186 c.38C>T p.T13I missense 0.00006508●●●●●●
5. 7542194 c.46C>T p.R16C missense 0.00001402●●●●●●
6. 7542194 c.46C>A p.R16S missense 0.00005609●●●●●●
7. 7542195 c.47G>A p.R16H missense 0.00012784●●●●●●
8. 7542203 c.55C>T p.R19C missense 0.00006007●●●●●●
9. 7542209 c.61G>A p.E21K missense 0.00003129●●●●●●
10. 7542211 c.63G>T p.E21D missense 0.00001609●●●●●●
11. 7542227 c.79C>T p.R27C missense 0.00003739●●●●●●
12. 7542230 c.82T>G p.Y28D missense 0.00001911●●●●●●
13. 7542236 c.88G>A p.V30M missense 0.00310766●●●●●●
14. 7542239 c.91A>G p.T31A missense 0.00002168●●●●●●
15. 7542252 c.104G>C p.G35A missense 0.00002714●●●●●●
16. 7542255 c.107G>T p.G36V missense 0.00002863●●●●●●
17. 7542255 c.107G>C p.G36A missense 0.00002863●●●●●●
18. 7542263 c.115A>G p.R39G missense 0.00003020●●●●●●
19. 7542279 c.131G>C p.R44P missense 0.00003694●●●●●●
20. 7542284 c.136G>A p.G46S missense 0.00003796●●●●●●
21. 7542285 c.137G>A p.G46D missense 0.00003814●●●●●●
22. 7542294 c.146C>T p.T49I missense 0.00004074●●●●●●
23. 7542305 c.157T>G p.S53A missense 0.00102204●●●●●●
24. 7542305 c.157T>C p.S53P missense 0.00004444●●●●●●
25. 7555962 c.182C>T p.T61M missense 0.00001651●●●●●●
26. 7555968 c.188C>G p.S63C missense 0.00000825●●●●●●
27. 7555974 c.194A>T p.H65L missense 0.00000825●●●●●●
28. 7556015 c.235T>C p.S79P missense 0.00000828●●●●●●
29. 7556022 c.242G>A p.C81Y missense 0.00012463●●●●●●
30. 7556033 c.253G>A p.A85T missense 0.00000841●●●●●●
31. 7556036 c.256G>C p.E86Q missense 0.00001695●●●●●●
32. 7556039 c.259C>G p.L87V missense 0.00002558●●●●●●
33. 7556045 c.265G>A p.V89M missense 0.00000869●●●●●●
34. 7556049 c.269A>G p.Q90R missense 0.00067680●●●●●●
35. 7556051 c.271C>G p.P91A missense 0.00001764●●●●●●
36. 7556058 c.273+5G>A splice site 0.00035156●●●●●●
37. 7556060 c.273+7T>C splice site 0.00000907●●●●●●
38. 7556063 c.273+10C>T splice site 0.02513941●●●●●●
39. 7558345 c.274-4T>G splice site 0.00003295●●●●●●
40. 7558359 c.284A>G p.Y95C missense 0.00002471●●●●●●
41. 7558362 c.287G>C p.G96A missense 0.00000824●●●●●●
42. 7558366 c.291T>G p.D97E missense 0.00000824●●●●●●
43. 7558374 c.299A>T p.Q100L missense 0.00000824●●●●●●
44. 7558375 c.300A>T p.Q100H missense 0.00004118●●●●●●
45. 7558379 c.304A>C p.T102P missense 0.00000824●●●●●●
46. 7558382 c.307C>T p.R103W missense 0.00002471●●●●●●
47. 7558382 c.307C>G p.R103G missense 0.00001647●●●●●●
48. 7558383 c.308G>A p.R103Q missense 0.00000824●●●●●●
49. 7558389 c.314G>A p.R105Q missense 0.00004118●●●●●●
50. 7558409 c.334G>T p.A112S missense 0.00000824●●●●●●
51. 7558415 c.340G>A p.A114T missense 0.00003295●●●●●●
52. 7558419 c.344A>G p.N115S missense 0.00005766●●●●●●
53. 7558428 c.353T>C p.M118T missense 0.00000824●●●●●●
54. 7558439 c.364G>A p.D122N missense 0.00000824●●●●●●
55. 7558460 c.385C>T p.R129W missense 0.00001655●●●●●●
56. 7558461 c.386G>A p.R129Q missense 0.00000828●●●●●●
57. 7558483 c.408T>G p.D136E missense 0.00001716●●●●●●
58. 7558503 c.422+6G>T splice site 0.00000942●●●●●●
59. 7558504 c.422+7delT splice site 0.00000942●●●●●●
60. 7559453 c.423-6T>G splice site 0.00000828●●●●●●
61. 7559459 c.423G>C p.R141S missense 0.00000826●●●●●●
62. 7559460 c.424C>T p.L142F missense 0.00002477●●●●●●
63. 7559464 c.428T>C p.L143P missense 0.00000825●●●●●●
64. 7559467 c.431A>C p.Q144P missense 0.00000825●●●●●●
65. 7559481 c.445A>T p.M149L missense 0.00000824●●●●●●
66. 7559485 c.449G>A p.R150Q missense 0.00002471●●●●●●
67. 7559502 c.466A>C p.I156L missense 0.00000824●●●●●●
68. 7559502 c.466A>G p.I156V missense 0.00000824●●●●●●
69. 7559503 c.467T>A p.I156N missense 0.00001647●●●●●●
70. 7559515 c.479G>A p.R160Q missense 0.00002471●●●●●●
71. 7559520 c.484C>G p.R162G missense 0.00002471●●●●●●
72. 7559520 c.484C>T p.R162C missense 0.00002471●●●●●●
73. 7559521 c.485G>A p.R162H missense 0.00001647●●●●●●
74. 7559521 c.485G>T p.R162L missense 0.00000824●●●●●●
75. 7559527 c.491C>T p.A164V missense 0.00000824●●●●●●
76. 7559535 c.499delA p.Lys167ArgfsTer29 frameshift 0.00000824●●●●●●
77. 7559539 c.503G>C p.G168A missense 0.00000824●●●●●●
78. 7559544 c.508G>A p.G170R missense 0.00001647●●●●●●
79. 7559554 c.518C>T p.T173I missense 0.00000824●●●●●●
80. 7559557 c.521G>T p.C174F missense 0.00005765●●●●●●
81. 7559557 c.521G>A p.C174Y missense 0.00000824●●●●●●
82. 7559571 c.535G>A p.G179S missense 0.00001647●●●●●●
83. 7559576 c.540G>C p.W180C missense 0.00000824●●●●●●
84. 7559589 c.553A>G p.K185E missense 0.00001647●●●●●●
85. 7559590 c.554A>G p.K185R missense 0.00000824●●●●●●
86. 7559601 c.565A>G p.S189G missense 0.00000824●●●●●●
87. 7559608 c.572G>A p.C191Y missense 0.00000824●●●●●●
88. 7559611 c.575T>C p.L192S missense 0.00000824●●●●●●
89. 7559614 c.578G>C p.G193A missense 0.00000824●●●●●●
90. 7559619 c.583A>G p.M195V missense 0.00001648●●●●●●
91. 7559622 c.586A>G p.R196G missense 0.00000824●●●●●●
92. 7559632 c.596G>A p.R199K missense 0.00002474●●●●●●
93. 7559633 c.597_597+1insGTAA p.Ala200ValfsTer21 frameshift 0.00003300●●●●●●
94. 7562880 c.598-5C>T splice site 0.00003295●●●●●●
95. 7562881 c.598-4G>A splice site 0.00001647●●●●●●
96. 7562883 c.598-2A>G essential splice site 0.00000824●●●●●●
97. 7562884 c.598-1G>C essential splice site 0.00000824●●●●●●
98. 7562887 c.600G>C splice site 0.00000824●●●●●●
99. 7562912 c.625G>A p.V209M missense 0.00000824●●●●●●
100. 7562927 c.640G>A p.V214M missense 0.00000824●●●●●●
101. 7562930 c.643G>A p.E215K missense 0.00006589●●●●●●
102. 7562952 c.665G>A p.R222Q missense 0.00001647●●●●●●
103. 7562952 c.665G>C p.R222P missense 0.00000824●●●●●●
104. 7562954 c.667G>A p.G223S missense 0.00004942●●●●●●
105. 7562957 c.670A>G p.I224V missense 0.00000824●●●●●●
106. 7562972 c.685G>A p.G229S missense 0.00000824●●●●●●
107. 7562972 c.685G>T p.G229C missense 0.00000824●●●●●●
108. 7562973 c.686G>A p.G229D missense 0.00000824●●●●●●
109. 7562975 c.688G>A p.D230N missense 0.00039537●●●●●●
110. 7562979 c.692A>G p.Y231C missense 0.00001647●●●●●●
111. 7562981 c.694C>T p.R232C missense 0.00000824●●●●●●
112. 7562982 c.695G>A p.R232H missense 0.00000824●●●●●●
113. 7563014 c.726+1G>A essential splice site 0.00000824●●●●●●
114. 7563017 c.726+4C>T splice site 0.00000824●●●●●●
115. 7563017 c.726+4C>G splice site 0.00000824●●●●●●
116. 7563020 c.726+7G>C splice site 0.00010710●●●●●●
117. 7563962 c.727-7C>G splice site 0.00000824●●●●●●
118. 7563970 c.728G>A p.R243H missense 0.00000824●●●●●●
119. 7563971 c.729C>T p.R243R splice site 0.00014005●●●●●●
120. 7563982 c.740C>T p.A247V missense 0.00003295●●●●●●
121. 7564024 c.777+5G>A splice site 0.00000824●●●●●●
122. 7565596 c.782C>T p.A261V missense 0.00014848●●●●●●
123. 7565627 c.813G>T p.Q271H missense 0.00000824●●●●●●
124. 7565636 c.822C>G p.N274K missense 0.00000824●●●●●●
125. 7565655 c.841A>G p.R281G missense 0.00000824●●●●●●
126. 7565664 c.850A>G p.M284V missense 0.00000824●●●●●●
127. 7565674 c.860A>G p.N287S missense 0.00000824●●●●●●
128. 7565676 c.862G>A p.D288N missense 0.00002472●●●●●●
129. 7565703 c.889G>A p.D297N missense 0.00008240●●●●●●
130. 7565712 c.898G>A p.D300N missense 0.00000824●●●●●●
131. 7565714 c.900C>A p.D300E missense 0.00000824●●●●●●
132. 7565725 c.911A>T p.N304I missense 0.00000824●●●●●●
133. 7565727 c.913A>T p.I305F missense 0.02992749●●●●●●
134. 7565727 c.913A>G p.I305V missense 0.00000824●●●●●●
135. 7565730 c.916G>A p.A306T missense 0.00004944●●●●●●
136. 7565753 c.939C>T splice site 0.00014011●●●●●●
137. 7565758 c.939+5G>T splice site 0.00000824●●●●●●
138. 7566613 c.943C>T p.R315C missense 0.00007456●●●●●●
139. 7566614 c.944G>T p.R315L missense 0.00002485●●●●●●
140. 7566614 c.944G>A p.R315H missense 0.00000828●●●●●●
141. 7566616 c.946A>G p.M316V missense 0.00002484●●●●●●
142. 7566631 c.961G>C p.V321L missense 0.00002480●●●●●●
143. 7566635 c.965A>G p.K322R missense 0.00000826●●●●●●
144. 7566640 c.970A>C p.K324Q missense 0.00000826●●●●●●
145. 7566644 c.974A>G p.E325G missense 0.00000826●●●●●●
146. 7566662 c.992A>G p.Q331R missense 0.00000826●●●●●●
147. 7566662 c.992A>C p.Q331P missense 0.00000826●●●●●●
148. 7566667 c.997A>G p.S333G missense 0.00000826●●●●●●
149. 7566668 c.998G>A p.S333N missense 0.00000826●●●●●●
150. 7566672 c.1002C>A p.D334E missense 0.00001652●●●●●●
151. 7566676 c.1006C>T p.L336F missense 0.00000826●●●●●●
152. 7566680 c.1010T>C p.V337A missense 0.00000826●●●●●●
153. 7566682 c.1012C>T p.L338F missense 0.00000826●●●●●●
154. 7566686 c.1016A>G p.N339S missense 0.00001653●●●●●●
155. 7566704 c.1034A>G p.D345G missense 0.00003311●●●●●●
156. 7566710 c.1040T>C p.I347T missense 0.00000829●●●●●●
157. 7566717 c.1044+3A>G splice site 0.00000835●●●●●●
158. 7567579 c.1045-8T>C splice site 0.00000824●●●●●●
159. 7567584 c.1045-3C>T splice site 0.00002471●●●●●●
160. 7567609 c.1067C>T p.T356M missense 0.00000824●●●●●●
161. 7567631 c.1089G>C p.Q363H missense 0.00000824●●●●●●
162. 7567636 c.1094C>T p.T365I missense 0.00000824●●●●●●
163. 7567645 c.1103T>C p.I368T missense 0.00007413●●●●●●
164. 7567648 c.1106A>T p.D369V missense 0.00000824●●●●●●
165. 7567677 c.1135T>A p.F379I missense 0.00000824●●●●●●
166. 7567688 c.1140+6T>C splice site 0.00009071●●●●●●
167. 7567688 c.1140+6T>A splice site 0.00000825●●●●●●
168. 7568026 c.1153G>T p.A385S missense 0.00002474●●●●●●
169. 7568027 c.1154C>T p.A385V missense 0.00014843●●●●●●
170. 7568031 c.1158G>T p.Q386H missense 0.00000825●●●●●●
171. 7568033 c.1160C>T p.S387F missense 0.00000825●●●●●●
172. 7568035 c.1162A>G p.T388A missense 0.00000825●●●●●●
173. 7568053 c.1180G>A p.G394R missense 0.00000825●●●●●●
174. 7568066 c.1193C>T p.S398F missense 0.00000825●●●●●●
175. 7568070 c.1197C>G p.I399M missense 0.00001651●●●●●●
176. 7568095 c.1222A>C p.N408H missense 0.00002480●●●●●●
177. 7568097 c.1224C>A p.N408K missense 0.00000827●●●●●●
178. 7568105 c.1232T>C p.L411P missense 0.00000827●●●●●●
179. 7568110 c.1237C>T p.H413Y missense 0.00000828●●●●●●
180. 7568127 c.1254C>G p.I418M missense 0.00000830●●●●●●
181. 7568134 c.1261C>G p.L421V missense 0.00000831●●●●●●
182. 7568135 c.1262T>C p.L421P missense 0.00000831●●●●●●
183. 7568145 c.1266+6G>T splice site 0.00059123●●●●●●
184. 7568145 c.1266+6G>A splice site 0.00006662●●●●●●
185. 7568676 c.1273C>T p.R425X nonsense 0.00000824●●●●●●
186. 7568677 c.1274G>A p.R425Q missense 0.00002472●●●●●●
187. 7568679 c.1276G>A p.E426K missense 0.00000824●●●●●●
188. 7568686 c.1283T>A p.I428N missense 0.00000824●●●●●●
189. 7568689 c.1286T>C p.L429P missense 0.00000824●●●●●●
190. 7568691 c.1288G>A p.E430K missense 0.00000824●●●●●●
191. 7568700 c.1297C>T p.R433C missense 0.00001648●●●●●●
192. 7568701 c.1298G>A p.R433H missense 0.00002471●●●●●●
193. 7568727 c.1324T>G p.S442A missense 0.00002471●●●●●●
194. 7568752 c.1349C>T p.P450L missense 0.00001648●●●●●●
195. 7568765 c.1362C>A p.D454E missense 0.00000824●●●●●●
196. 7568781 c.1378C>G p.P460A missense 0.00000824●●●●●●
197. 7568782 c.1379C>T p.P460L missense 0.00000824●●●●●●
198. 7568815 c.1412A>G p.Q471R missense 0.00000825●●●●●●
199. 7568821 c.1418A>G p.Q473R missense 0.00004124●●●●●●
200. 7568829 c.1419+7A>T splice site 0.00000825●●●●●●
201. 7569425 c.1426G>A p.V476M missense 0.00004119●●●●●●
202. 7569425 c.1426G>T p.V476L missense 0.00000824●●●●●●
203. 7569443 c.1444T>G p.C482G missense 0.00001647●●●●●●
204. 7569467 c.1468C>T p.R490C missense 0.00004118●●●●●●
205. 7569468 c.1469G>A p.R490H missense 0.00004118●●●●●●
206. 7569480 c.1481A>T p.Y494F missense 0.01176238●●●●●●
207. 7569482 c.1483G>A p.V495M missense 0.00013178●●●●●●
208. 7569486 c.1487C>T p.T496M missense 0.00002471●●●●●●
209. 7569492 c.1493C>T p.P498L missense 0.00002471●●●●●●
210. 7569498 c.1499G>A p.G500D missense 0.00000824●●●●●●
211. 7569500 c.1501G>A p.V501I missense 0.00005765●●●●●●
212. 7569503 c.1504G>A p.D502N missense 0.00000824●●●●●●
213. 7569508 c.1509G>T p.M503I missense 0.00000824●●●●●●
214. 7569521 c.1522G>A p.V508M missense 0.00000824●●●●●●
215. 7569533 c.1534A>G p.I512V missense 0.00004118●●●●●●
216. 7569539 c.1540C>T p.P514S missense 0.00000824●●●●●●
217. 7569557 c.1558G>A p.V520M missense 0.00001647●●●●●●
218. 7569561 c.1562A>C p.D521A missense 0.00002471●●●●●●
219. 7569562 c.1563C>A p.D521E missense 0.00000824●●●●●●
220. 7569571 c.1572C>T splice site 0.00000824●●●●●●
221. 7569580 c.1574+7C>T splice site 0.00004118●●●●●●
222. 7569581 c.1574+8A>G splice site 0.00000824●●●●●●
223. 7570666 c.1575-4T>G splice site 0.00000824●●●●●●
224. 7570698 c.1603G>T p.A535S missense 0.00000824●●●●●●
225. 7570725 c.1630A>C p.M544L missense 0.00003295●●●●●●
226. 7570726 c.1631T>C p.M544T missense 0.00000824●●●●●●
227. 7570758 c.1663A>T p.I555F missense 0.00000824●●●●●●
228. 7570763 c.1668delC p.Asp556GlufsTer2 frameshift 0.00000824●●●●●●
229. 7570766 c.1671A>G p.I557M missense 0.00000824●●●●●●
230. 7570767 c.1672G>C p.E558Q missense 0.00001647●●●●●●
231. 7570780 c.1685C>T p.A562V missense 0.00000824●●●●●●
232. 7570791 c.1696G>A p.A566T missense 0.00018126●●●●●●
233. 7570800 c.1701+4T>C splice site 0.00001648●●●●●●
234. 7571623 c.1709C>T p.T570I missense 0.00001650●●●●●●
235. 7571629 c.1715G>A p.R572Q missense 0.00001650●●●●●●
236. 7571643 c.1729A>C p.M577L missense 0.00000825●●●●●●
237. 7571644 c.1730T>C p.M577T missense 0.00001650●●●●●●
238. 7571646 c.1732A>C p.K578Q missense 0.00000825●●●●●●
239. 7571650 c.1736C>T p.T579M missense 0.00000825●●●●●●
240. 7571652 c.1738A>G p.I580V missense 0.00000825●●●●●●
241. 7571658 c.1744G>A p.D582N missense 0.00000825●●●●●●
242. 7571664 c.1750G>A p.E584K missense 0.00000825●●●●●●
243. 7571692 c.1778A>G p.N593S missense 0.00051122●●●●●●
244. 7571695 c.1781G>T p.S594I missense 0.00000825●●●●●●
245. 7571721 c.1807G>C p.D603H missense 0.00000825●●●●●●
246. 7571730 c.1816C>T p.R606W missense 0.00002474●●●●●●
247. 7571731 c.1817G>A p.R606Q missense 0.00003298●●●●●●
248. 7571738 c.1824A>G p.I608M missense 0.00000825●●●●●●
249. 7571754 c.1840G>A p.D614N missense 0.00003298●●●●●●
250. 7571766 c.1852C>T p.H618Y missense 0.00000825●●●●●●
251. 7571815 c.1901C>G p.T634R missense 0.00000826●●●●●●
252. 7571815 c.1901C>A p.T634K missense 0.00000826●●●●●●
253. 7571820 c.1903+3C>T splice site 0.00000826●●●●●●
254. 7571821 c.1903+4G>A splice site 0.00004958●●●●●●
255. 7571824 c.1903+7T>C splice site 0.00703713●●●●●●
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504. 7580346 c.3923G>A p.R1308Q missense 0.00121158●●●●●●
505. 7580346 c.3923G>C p.R1308P missense 0.00001660●●●●●●
506. 7580379 c.3956C>T p.T1319I missense 0.00001660●●●●●●
507. 7580379 c.3956C>G p.T1319S missense 0.00005810●●●●●●
508. 7580394 c.3971A>T p.N1324I missense 0.00000830●●●●●●
509. 7580396 c.3973A>C p.K1325Q missense 0.00000830●●●●●●
510. 7580405 c.3982G>A p.E1328K missense 0.00000830●●●●●●
511. 7580418 c.3995C>T p.A1332V missense 0.00002488●●●●●●
512. 7580431 c.4008delG p.Glu1337ArgfsTer12 frameshift 0.00002488●●●●●●
513. 7580441 c.4018C>T p.R1340C missense 0.00008295●●●●●●
514. 7580441 c.4018C>G p.R1340G missense 0.00000830●●●●●●
515. 7580441 c.4018C>A p.R1340S missense 0.00000830●●●●●●
516. 7580442 c.4019G>A p.R1340H missense 0.00003318●●●●●●
517. 7580444 c.4021C>T p.R1341C missense 0.00000830●●●●●●
518. 7580445 c.4022G>A p.R1341H missense 0.00007466●●●●●●
519. 7580460 c.4037A>G p.N1346S missense 0.00000829●●●●●●
520. 7580466 c.4043T>G p.L1348R missense 0.00001659●●●●●●
521. 7580469 c.4046G>A p.S1349N missense 0.00001659●●●●●●
522. 7580478 c.4055G>A p.R1352K missense 0.00000829●●●●●●
523. 7580481 c.4058A>G p.N1353S missense 0.00000829●●●●●●
524. 7580484 c.4061A>G p.N1354S missense 0.00001658●●●●●●
525. 7580492 c.4069_4071delGAG p.Glu1357del inframe 0.00001658●●●●●●
526. 7580494 c.4071G>C p.E1357D missense 0.00004975●●●●●●
527. 7580525 c.4102A>G p.T1368A missense 0.00002486●●●●●●
528. 7580528 c.4105G>A p.E1369K missense 0.00001657●●●●●●
529. 7580535 c.4112A>G p.N1371S missense 0.00000828●●●●●●
530. 7580540 c.4117A>G p.T1373A missense 0.00009109●●●●●●
531. 7580541 c.4118C>T p.T1373I missense 0.00000828●●●●●●
532. 7580562 c.4139T>G p.L1380R missense 0.00000827●●●●●●
533. 7580564 c.4141A>T p.T1381S missense 0.00088503●●●●●●
534. 7580565 c.4142C>G p.T1381S missense 0.00001654●●●●●●
535. 7580589 c.4166G>T p.S1389I missense 0.00001653●●●●●●
536. 7580598 c.4175G>A p.R1392Q missense 0.00008266●●●●●●
537. 7580598 c.4175G>C p.R1392P missense 0.00000827●●●●●●
538. 7580601 c.4178C>A p.A1393D missense 0.00000827●●●●●●
539. 7580603 c.4180C>T p.Q1394X nonsense 0.00000826●●●●●●
540. 7580613 c.4190A>G p.N1397S missense 0.00001653●●●●●●
541. 7580621 c.4198C>T p.R1400X nonsense 0.00000827●●●●●●
542. 7580624 c.4201G>C p.E1401Q missense 0.00000827●●●●●●
543. 7580647 c.4224_4226delAAT p.Ile1409del inframe 0.00000826●●●●●●
544. 7580656 c.4233G>C p.R1411S missense 0.00003306●●●●●●
545. 7580675 c.4252C>G p.Q1418E missense 0.00000826●●●●●●
546. 7580697 c.4274G>A p.R1425K missense 0.00001651●●●●●●
547. 7580726 c.4303G>C p.A1435P missense 0.00000825●●●●●●
548. 7580729 c.4306A>G p.T1436A missense 0.00000825●●●●●●
549. 7580737 c.4314_4315delTG p.Glu1439GlyfsTer11 frameshift 0.00000825●●●●●●
550. 7580795 c.4372C>G p.R1458G missense 0.00173703●●●●●●
551. 7580795 c.4372C>T p.R1458X nonsense 0.00000827●●●●●●
552. 7580796 c.4373G>A p.R1458Q missense 0.00005793●●●●●●
553. 7580808 c.4385G>T p.S1462I missense 0.00006626●●●●●●
554. 7580828 c.4405C>T p.L1469F missense 0.00001658●●●●●●
555. 7580837 c.4414G>T p.A1472S missense 0.00003318●●●●●●
556. 7580844 c.4421A>G p.K1474R missense 0.00000830●●●●●●
557. 7580847 c.4424C>T p.T1475I missense 0.00000830●●●●●●
558. 7580856 c.4433A>G p.D1478G missense 0.00000830●●●●●●
559. 7580871 c.4448T>C p.I1483T missense 0.00000831●●●●●●
560. 7580878 c.4455G>T p.R1485S missense 0.00175366●●●●●●
561. 7580880 c.4457T>C p.L1486S missense 0.00001663●●●●●●
562. 7580889 c.4466T>G p.L1489R missense 0.00000831●●●●●●
563. 7580894 c.4471G>A p.D1491N missense 0.00002495●●●●●●
564. 7580895 c.4472A>G p.D1491G missense 0.00000832●●●●●●
565. 7580895 c.4472A>T p.D1491V missense 0.00000832●●●●●●
566. 7580901 c.4478A>C p.E1493A missense 0.00001663●●●●●●
567. 7580910 c.4487A>T p.D1496V missense 0.00001664●●●●●●
568. 7580910 c.4487A>G p.D1496G missense 0.00000832●●●●●●
569. 7580912 c.4489C>T p.R1497W missense 0.00034944●●●●●●
570. 7580913 c.4490G>A p.R1497Q missense 0.00009986●●●●●●
571. 7580937 c.4514C>T p.A1505V missense 0.00007491●●●●●●
572. 7580949 c.4526G>A p.R1509K missense 0.00016648●●●●●●
573. 7580954 c.4531C>T p.Q1511X nonsense 0.00003330●●●●●●
574. 7580957 c.4534T>C p.Y1512H missense 0.00000832●●●●●●
575. 7580958 c.4535A>G p.Y1512C missense 0.11560290●●●●●●
576. 7580981 c.4558A>T p.S1520C missense 0.00004994●●●●●●
577. 7580981 c.4558A>G p.S1520G missense 0.00005826●●●●●●
578. 7580988 c.4565C>T p.T1522M missense 0.00003330●●●●●●
579. 7580996 c.4573A>G p.I1525V missense 0.00001665●●●●●●
580. 7581001 c.4578C>A p.N1526K missense 0.01351531●●●●●●
581. 7581011 c.4588G>T p.V1530F missense 0.00133205●●●●●●
582. 7581027 c.4604T>A p.L1535Q missense 0.00000833●●●●●●
583. 7581032 c.4609C>T p.R1537C missense 0.00913512●●●●●●
584. 7581033 c.4610G>A p.R1537H missense 0.00003331●●●●●●
585. 7581039 c.4616G>C p.R1539T missense 0.00000833●●●●●●
586. 7581044 c.4621G>A p.D1541N missense 0.00000833●●●●●●
587. 7581055 c.4632G>T p.R1544S missense 0.00000833●●●●●●
588. 7581056 c.4633G>A p.V1545I missense 0.00000833●●●●●●
589. 7581057 c.4634T>C p.V1545A missense 0.00000833●●●●●●
590. 7581063 c.4640A>C p.Q1547P missense 0.00000833●●●●●●
591. 7581071 c.4648A>T p.T1550S missense 0.00001666●●●●●●
592. 7581080 c.4657G>A p.D1553N missense 0.00002500●●●●●●
593. 7581089 c.4666A>G p.I1556V missense 0.00002501●●●●●●
594. 7581093 c.4670C>T p.T1557M missense 0.00000834●●●●●●
595. 7581096 c.4673G>A p.R1558Q missense 0.00003336●●●●●●
596. 7581119 c.4696C>G p.L1566V missense 0.00002503●●●●●●
597. 7581136 c.4713G>C p.Q1571H missense 0.00000835●●●●●●
598. 7581140 c.4717G>A p.V1573M missense 0.00000835●●●●●●
599. 7581158 c.4735C>T p.R1579W missense 0.00000836●●●●●●
600. 7581159 c.4736G>A p.R1579Q missense 0.00000836●●●●●●
601. 7581164 c.4741A>G p.K1581E missense 0.00022597●●●●●●
602. 7581171 c.4748C>G p.T1583S missense 0.00000838●●●●●●
603. 7581173 c.4750G>A p.A1584T missense 0.00030170●●●●●●
604. 7581173 c.4750G>C p.A1584P missense 0.00000838●●●●●●
605. 7581174 c.4751C>T p.A1584V missense 0.00000838●●●●●●
606. 7581177 c.4754C>T p.S1585L missense 0.00000839●●●●●●
607. 7581198 c.4775A>G p.K1592R missense 0.00018482●●●●●●
608. 7581213 c.4790A>C p.E1597A missense 0.00000841●●●●●●
609. 7581216 c.4793T>A p.L1598Q missense 0.00000841●●●●●●
610. 7581228 c.4805G>A p.R1602K missense 0.00000843●●●●●●
611. 7581234 c.4811C>T p.S1604L missense 0.00000844●●●●●●
612. 7581242 c.4819G>A p.E1607K missense 0.00000844●●●●●●
613. 7581290 c.4867T>C p.S1623P missense 0.00000845●●●●●●
614. 7581294 c.4871T>C p.I1624T missense 0.00001689●●●●●●
615. 7581302 c.4879A>G p.K1627E missense 0.00000844●●●●●●
616. 7581304 c.4881G>T p.K1627N missense 0.00001688●●●●●●
617. 7581309 c.4886G>T p.S1629I missense 0.00006747●●●●●●
618. 7581317 c.4894G>C p.D1632H missense 0.00000842●●●●●●
619. 7581317 c.4894G>A p.D1632N missense 0.00000842●●●●●●
620. 7581324 c.4901G>A p.R1634Q missense 0.00008416●●●●●●
621. 7581324 c.4901G>T p.R1634L missense 0.00001683●●●●●●
622. 7581338 c.4915G>A p.V1639M missense 0.00006704●●●●●●
623. 7581345 c.4922A>G p.D1641G missense 0.00000836●●●●●●
624. 7581360 c.4937A>G p.E1646G missense 0.00001670●●●●●●
625. 7581366 c.4943A>G p.Q1648R missense 0.00016691●●●●●●
626. 7581384 c.4961T>C p.L1654P missense 0.00001667●●●●●●
627. 7581396 c.4973C>T p.S1658F missense 0.00000833●●●●●●
628. 7581414 c.4991T>G p.L1664R missense 0.00002497●●●●●●
629. 7581416 c.4993A>G p.R1665G missense 0.00000832●●●●●●
630. 7581419 c.4996C>T p.R1666W missense 0.00006658●●●●●●
631. 7581420 c.4997G>A p.R1666Q missense 0.00003329●●●●●●
632. 7581429 c.5006T>A p.L1669H missense 0.00000832●●●●●●
633. 7581433 c.5010G>C p.Q1670H missense 0.00000832●●●●●●
634. 7581442 c.5019A>T p.E1673D missense 0.00000832●●●●●●
635. 7581458 c.5035C>T p.H1679Y missense 0.00000832●●●●●●
636. 7581470 c.5047G>A p.E1683K missense 0.00000832●●●●●●
637. 7581484 c.5061G>C p.K1687N missense 0.00000832●●●●●●
638. 7581485 c.5062G>A p.A1688T missense 0.00005822●●●●●●
639. 7581486 c.5063C>T p.A1688V missense 0.00002495●●●●●●
640. 7581494 c.5071G>A p.D1691N missense 0.00000832●●●●●●
641. 7581543 c.5120A>G p.Q1707R missense 0.00000830●●●●●●
642. 7581546 c.5123C>T p.S1708F missense 0.00001659●●●●●●
643. 7581546 c.5123C>G p.S1708C missense 0.00000829●●●●●●
644. 7581561 c.5138T>C p.L1713P missense 0.00000829●●●●●●
645. 7581582 c.5159T>C p.L1720S missense 0.00000828●●●●●●
646. 7581583 c.5160_5162delAGA p.Glu1723del inframe 0.00003311●●●●●●
647. 7581590 c.5167G>C p.E1723Q missense 0.00021517●●●●●●
648. 7581596 c.5173C>T p.R1725W missense 0.00019855●●●●●●
649. 7581601 c.5178C>A p.N1726K missense 0.00086014●●●●●●
650. 7581603 c.5180T>C p.L1727P missense 0.00000827●●●●●●
651. 7581606 c.5183G>A p.R1728K missense 0.00003307●●●●●●
652. 7581617 c.5194G>A p.D1732N missense 0.00001653●●●●●●
653. 7581620 c.5197G>A p.D1733N missense 0.00001653●●●●●●
654. 7581636 c.5213G>A p.R1738Q missense 0.17240810●●●●●●
655. 7581641 c.5218G>A p.E1740K missense 0.00123848●●●●●●
656. 7581644 c.5221G>A p.A1741T missense 0.00007431●●●●●●
657. 7581645 c.5222C>T p.A1741V missense 0.00008256●●●●●●
658. 7581670 c.5247C>G p.I1749M missense 0.00000826●●●●●●
659. 7581680 c.5257A>T p.R1753W missense 0.00000826●●●●●●
660. 7581684 c.5261G>A p.S1754N missense 0.00000826●●●●●●
661. 7581708 c.5285G>A p.R1762Q missense 0.00001655●●●●●●
662. 7581713 c.5290C>G p.L1764V missense 0.00000828●●●●●●
663. 7581714 c.5291T>A p.L1764Q missense 0.00000828●●●●●●
664. 7581714 c.5291T>C p.L1764P missense 0.00000828●●●●●●
665. 7581732 c.5309T>C p.I1770T missense 0.00000831●●●●●●
666. 7581747 c.5324G>T p.R1775I missense 0.00008338●●●●●●
667. 7581786 c.5363A>G p.Q1788R missense 0.00005925●●●●●●
668. 7581810 c.5379+8C>A splice site 0.00002562●●●●●●
669. 7582871 c.5380-4C>G splice site 0.00000827●●●●●●
670. 7582878 c.5383T>A p.S1795T missense 0.00000827●●●●●●
671. 7582881 c.5386A>G p.N1796D missense 0.00007438●●●●●●
672. 7582885 c.5390G>C p.R1797T missense 0.00000826●●●●●●
673. 7582890 c.5395C>G p.Q1799E missense 0.00000825●●●●●●
674. 7582907 c.5412G>T p.Q1804H missense 0.00003297●●●●●●
675. 7582908 c.5413T>G p.C1805G missense 0.00000824●●●●●●
676. 7582909 c.5414G>A p.C1805Y missense 0.00003297●●●●●●
677. 7582912 c.5417C>G p.T1806S missense 0.00002473●●●●●●
678. 7582974 c.5479G>A p.A1827T missense 0.00000824●●●●●●
679. 7582980 c.5485C>G p.L1829V missense 0.00000824●●●●●●
680. 7582993 c.5498A>T p.E1833V missense 0.00946015●●●●●●
681. 7582993 c.5498A>G p.E1833G missense 0.00006610●●●●●●
682. 7583008 c.5513G>A p.R1838H missense 0.00005767●●●●●●
683. 7583017 c.5522C>T p.S1841L missense 0.00004119●●●●●●
684. 7583049 c.5554C>T p.R1852C missense 0.00028829●●●●●●
685. 7583050 c.5555G>A p.R1852H missense 0.00023887●●●●●●
686. 7583081 c.5586T>G p.N1862K missense 0.00000824●●●●●●
687. 7583088 c.5593A>T p.N1865Y missense 0.00051073●●●●●●
688. 7583089 c.5594A>G p.N1865S missense 0.00000824●●●●●●
689. 7583093 c.5598G>C p.Q1866H missense 0.00000824●●●●●●
690. 7583104 c.5609A>G p.Q1870R missense 0.00000824●●●●●●
691. 7583106 c.5611T>G p.Y1871D missense 0.00000824●●●●●●
692. 7583112 c.5617C>T p.R1873C missense 0.00008239●●●●●●
693. 7583113 c.5618G>A p.R1873H missense 0.00004120●●●●●●
694. 7583151 c.5656G>C p.E1886Q missense 0.00000825●●●●●●
695. 7583163 c.5668A>G p.R1890G missense 0.00001650●●●●●●
696. 7583164 c.5669G>C p.R1890T missense 0.00000825●●●●●●
697. 7583164 c.5669G>A p.R1890K missense 0.00000825●●●●●●
698. 7583167 c.5672_5674delAGA p.E1891_K1892delinsE inframe 0.00000825●●●●●●
699. 7583182 c.5687G>C p.R1896T missense 0.00000826●●●●●●
700. 7583193 c.5698G>A p.E1900K missense 0.00001652●●●●●●
701. 7583216 c.5721G>C p.K1907N missense 0.00001653●●●●●●
702. 7583217 c.5722A>G p.R1908G missense 0.00000826●●●●●●
703. 7583221 c.5726T>C p.I1909T missense 0.00000826●●●●●●
704. 7583239 c.5744G>A p.R1915H missense 0.00016535●●●●●●
705. 7583289 c.5794C>T p.R1932C missense 0.00004139●●●●●●
706. 7583290 c.5795G>A p.R1932H missense 0.00002483●●●●●●
707. 7583299 c.5804A>G p.Y1935C missense 0.00000828●●●●●●
708. 7583303 c.5808G>C p.Q1936H missense 0.00000828●●●●●●
709. 7583305 c.5810G>A p.R1937K missense 0.00000828●●●●●●
710. 7583316 c.5821_5826delAAACTC p.Lys1941_Leu1942del inframe 0.00000828●●●●●●
711. 7583317 c.5822A>C p.K1941T missense 0.00001656●●●●●●
712. 7583329 c.5834G>A p.R1945H missense 0.00000828●●●●●●
713. 7583334 c.5839T>C p.Y1947H missense 0.00000828●●●●●●
714. 7583359 c.5864C>T p.T1955I missense 0.00000828●●●●●●
715. 7583376 c.5881G>A p.V1961I missense 0.00003309●●●●●●
716. 7583377 c.5882T>G p.V1961G missense 0.00001654●●●●●●
717. 7583394 c.5899G>A p.V1967M missense 0.00000827●●●●●●
718. 7583407 c.5912T>C p.L1971P missense 0.00000826●●●●●●
719. 7583416 c.5921A>T p.K1974M missense 0.00000826●●●●●●
720. 7583427 c.5932A>G p.M1978V missense 0.00000826●●●●●●
721. 7583430 c.5935C>G p.Q1979E missense 0.00000825●●●●●●
722. 7583446 c.5951A>T p.Q1984L missense 0.00000825●●●●●●
723. 7583453 c.5958C>G p.I1986M missense 0.00000825●●●●●●
724. 7583454 c.5959G>A p.D1987N missense 0.00002476●●●●●●
725. 7583458 c.5963A>G p.K1988R missense 0.00000825●●●●●●
726. 7583467 c.5972T>C p.L1991S missense 0.00001651●●●●●●
727. 7583471 c.5976C>A p.D1992E missense 0.00001652●●●●●●
728. 7583505 c.6010G>T p.V2004F missense 0.00000827●●●●●●
729. 7583509 c.6014C>T p.A2005V missense 0.00000827●●●●●●
730. 7583523 c.6028C>T p.P2010S missense 0.00001655●●●●●●
731. 7583529 c.6034C>T p.L2012F missense 0.00000828●●●●●●
732. 7583532 c.6037C>T p.R2013W missense 0.00001655●●●●●●
733. 7583542 c.6047G>A p.G2016E missense 0.00000828●●●●●●
734. 7583550 c.6055G>T p.A2019S missense 0.00002484●●●●●●
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. 7583607 c.6112A>C p.K2038Q missense 0.00001658●●●●●●
747. 7583612 c.6117A>T p.L2039F missense 0.00000830●●●●●●
748. 7583614 c.6119T>G p.I2040S missense 0.00000830●●●●●●
749. 7583632 c.6137T>G p.V2046G missense 0.00000831●●●●●●
750. 7583636 c.6141G>C p.M2047I missense 0.00000831●●●●●●
751. 7583682 c.6187C>G p.R2063G missense 0.00000833●●●●●●
752. 7583682 c.6187C>T p.R2063W missense 0.00000833●●●●●●
753. 7583683 c.6188G>A p.R2063Q missense 0.00000833●●●●●●
754. 7583700 c.6205G>A p.V2069I missense 0.00000832●●●●●●
755. 7583703 c.6208G>A p.D2070N missense 0.00391873●●●●●●
756. 7583718 c.6223C>T p.R2075W missense 0.00002494●●●●●●
757. 7583719 c.6224G>A p.R2075Q missense 0.00000831●●●●●●
758. 7583724 c.6229C>G p.L2077V missense 0.00000830●●●●●●
759. 7583728 c.6233T>C p.I2078T missense 0.00003321●●●●●●
760. 7583736 c.6241G>A p.D2081N missense 0.00000830●●●●●●
761. 7583742 c.6247C>T p.R2083C missense 0.00004146●●●●●●
762. 7583743 c.6248G>A p.R2083H missense 0.00000829●●●●●●
763. 7583754 c.6259T>C p.Y2087H missense 0.00000828●●●●●●
764. 7583757 c.6262G>T p.A2088S missense 0.00000828●●●●●●
765. 7583764 c.6269A>G p.E2090G missense 0.00001655●●●●●●
766. 7583785 c.6290A>G p.D2097G missense 0.00000827●●●●●●
767. 7583790 c.6295C>A p.P2099T missense 0.00026452●●●●●●
768. 7583791 c.6296C>T p.P2099L missense 0.00026453●●●●●●
769. 7583800 c.6305G>T p.G2102V missense 0.00001653●●●●●●
770. 7583802 c.6307A>G p.K2103E missense 0.00011569●●●●●●
771. 7583805 c.6310delA frameshift 0.00003306●●●●●●
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773. 7583835 c.6340A>G p.N2114D missense 0.00000826●●●●●●
774. 7583840 c.6345G>T p.L2115F missense 0.00007437●●●●●●
775. 7583841 c.6346A>G p.I2116V missense 0.00000826●●●●●●
776. 7583856 c.6361G>A p.G2121R missense 0.00000826●●●●●●
777. 7583862 c.6367C>T p.R2123C missense 0.00001653●●●●●●
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780. 7583872 c.6377A>G p.E2126G missense 0.00000826●●●●●●
781. 7583879 c.6384G>C p.Q2128H missense 0.00000826●●●●●●
782. 7583880 c.6385A>G p.I2129V missense 0.00000826●●●●●●
783. 7583890 c.6395G>A p.G2132E missense 0.00001653●●●●●●
784. 7583892 c.6397G>A p.G2133S missense 0.00003306●●●●●●
785. 7583892 c.6397G>T p.G2133C missense 0.00000827●●●●●●
786. 7583910 c.6415A>G p.N2139D missense 0.00000826●●●●●●
787. 7583911 c.6416A>G p.N2139S missense 0.00004132●●●●●●
788. 7583937 c.6442G>A p.A2148T missense 0.00001653●●●●●●
789. 7583946 c.6451C>T p.R2151W missense 0.00008262●●●●●●
790. 7583947 c.6452G>A p.R2151Q missense 0.00000826●●●●●●
791. 7583959 c.6464A>G p.D2155G missense 0.00003302●●●●●●
792. 7583961 c.6466A>G p.R2156G missense 0.00000825●●●●●●
793. 7583973 c.6478C>T p.R2160X nonsense 0.00000825●●●●●●
794. 7583974 c.6479G>A p.R2160Q missense 0.00004126●●●●●●
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796. 7584006 c.6511A>G p.N2171D missense 0.00000824●●●●●●
797. 7584021 c.6526G>C p.V2176L missense 0.00000824●●●●●●
798. 7584021 c.6526G>T p.V2176F missense 0.00000824●●●●●●
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802. 7584045 c.6550G>A p.V2184M missense 0.00002471●●●●●●
803. 7584059 c.6564A>C p.E2188D missense 0.00000824●●●●●●
804. 7584060 c.6565C>T p.R2189W missense 0.00005766●●●●●●
805. 7584061 c.6566G>A p.R2189Q missense 0.00003295●●●●●●
806. 7584067 c.6572G>A p.R2191K missense 0.00000824●●●●●●
807. 7584079 c.6584A>G p.H2195R missense 0.00000824●●●●●●
808. 7584085 c.6590G>A p.G2197D missense 0.00000824●●●●●●
809. 7584087 c.6592C>G p.L2198V missense 0.00000824●●●●●●
810. 7584096 c.6601C>T p.L2201F missense 0.00000824●●●●●●
811. 7584102 c.6607G>C p.V2203L missense 0.00000824●●●●●●
812. 7584125 c.6630C>A p.F2210L missense 0.00000824●●●●●●
813. 7584150 c.6655G>A p.V2219I missense 0.00057663●●●●●●
814. 7584184 c.6689C>T p.P2230L missense 0.00004119●●●●●●
815. 7584213 c.6718C>G p.Q2240E missense 0.00005772●●●●●●
816. 7584219 c.6724T>C p.S2242P missense 0.00000825●●●●●●
817. 7584227 c.6732C>G p.D2244E missense 0.00000825●●●●●●
818. 7584228 c.6733G>A p.E2245K missense 0.00000825●●●●●●
819. 7584260 c.6765G>T p.Q2255H missense 0.00003301●●●●●●
820. 7584260 c.6765G>C p.Q2255H missense 0.00000825●●●●●●
821. 7584271 c.6776G>A p.C2259Y missense 0.00000825●●●●●●
822. 7584282 c.6787A>G p.I2263V missense 0.00000824●●●●●●
823. 7584294 c.6799A>T p.T2267S missense 0.00033780●●●●●●
824. 7584376 c.6881C>G p.A2294G missense 0.00084835●●●●●●
825. 7584397 c.6902T>C p.I2301T missense 0.00001647●●●●●●
826. 7584427 c.6932C>T p.P2311L missense 0.00001647●●●●●●
827. 7584448 c.6953G>C p.R2318T missense 0.00000824●●●●●●
828. 7584451 c.6956G>A p.G2319D missense 0.00000824●●●●●●
829. 7584456 c.6961G>A p.V2321M missense 0.00000824●●●●●●
830. 7584479 c.6984G>T p.K2328N missense 0.00000824●●●●●●
831. 7584484 c.6989T>G p.L2330R missense 0.00000824●●●●●●
832. 7584495 c.7000C>T p.R2334X nonsense 0.00001648●●●●●●
833. 7584526 c.7031C>G p.T2344R missense 0.00000824●●●●●●
834. 7584528 c.7033G>C p.G2345R missense 0.00003296●●●●●●
835. 7584534 c.7039A>G p.I2347V missense 0.00002472●●●●●●
836. 7584534 c.7039A>C p.I2347L missense 0.00001648●●●●●●
837. 7584536 c.7041C>G p.I2347M missense 0.00000824●●●●●●
838. 7584541 c.7046C>G p.S2349C missense 0.00001648●●●●●●
839. 7584562 c.7067A>C p.K2356T missense 0.00000824●●●●●●
840. 7584570 c.7075A>G p.I2359V missense 0.00001648●●●●●●
841. 7584612 c.7117G>A p.A2373T missense 0.00002472●●●●●●
842. 7584648 c.7153C>T p.R2385C missense 0.00000824●●●●●●
843. 7584655 c.7160C>T p.P2387L missense 0.00000824●●●●●●
844. 7584657 c.7162G>A p.V2388I missense 0.00001648●●●●●●
845. 7584672 c.7177A>C p.K2393Q missense 0.00000824●●●●●●
846. 7584679 c.7184G>A p.G2395D missense 0.00001649●●●●●●
847. 7584708 c.7213C>A p.L2405I missense 0.00000825●●●●●●
848. 7584730 c.7235C>A p.T2412N missense 0.00000826●●●●●●
849. 7584744 c.7249G>T p.D2417Y missense 0.00000826●●●●●●
850. 7584774 c.7279C>A p.L2427M missense 0.00001653●●●●●●
851. 7584802 c.7307A>C p.D2436A missense 0.00000827●●●●●●
852. 7584836 c.7341A>C p.K2447N missense 0.00000827●●●●●●
853. 7584840 c.7345_7347delAAG p.Lys2449del inframe 0.00000827●●●●●●
854. 7584855 c.7360C>G p.Q2454E missense 0.00000826●●●●●●
855. 7584859 c.7364C>T p.T2455I missense 0.00004132●●●●●●
856. 7584869 c.7374G>T p.K2458N missense 0.00000826●●●●●●
857. 7584876 c.7381C>T p.L2461F missense 0.00000826●●●●●●
858. 7584885 c.7390C>T p.R2464C missense 0.00001652●●●●●●
859. 7584891 c.7396G>A p.V2466M missense 0.00000826●●●●●●
860. 7584922 c.7427A>G p.E2476G missense 0.00000825●●●●●●
861. 7584960 c.7465G>A p.D2489N missense 0.00000824●●●●●●
862. 7584963 c.7468T>C p.Y2490H missense 0.00000824●●●●●●
863. 7584996 c.7501T>C p.C2501R missense 0.00000824●●●●●●
864. 7585002 c.7507T>A p.W2503R missense 0.00000824●●●●●●
865. 7585029 c.7534G>T p.D2512Y missense 0.00000824●●●●●●
866. 7585033 c.7538G>A p.G2513D missense 0.00000824●●●●●●
867. 7585036 c.7541C>T p.S2514F missense 0.00000824●●●●●●
868. 7585039 c.7544C>G p.T2515S missense 0.00000824●●●●●●
869. 7585044 c.7549G>T p.V2517L missense 0.00000824●●●●●●
870. 7585047 c.7552G>A p.V2518I missense 0.00001647●●●●●●
871. 7585057 c.7562A>G p.D2521G missense 0.00001647●●●●●●
872. 7585078 c.7583A>G p.Y2528C missense 0.00000824●●●●●●
873. 7585084 c.7589T>C p.I2530T missense 0.00004118●●●●●●
874. 7585087 c.7592A>C p.Q2531P missense 0.00000824●●●●●●
875. 7585096 c.7601T>C p.I2534T missense 0.00000824●●●●●●
876. 7585102 c.7607A>T p.K2536M missense 0.00000824●●●●●●
877. 7585110 c.7615G>A p.V2539I missense 0.00000824●●●●●●
878. 7585113 c.7618G>A p.D2540N missense 0.00001647●●●●●●
879. 7585117 c.7622G>A p.R2541K missense 0.00002471●●●●●●
880. 7585125 c.7630T>G p.F2544V missense 0.00000824●●●●●●
881. 7585143 c.7648G>C p.G2550R missense 0.00001647●●●●●●
882. 7585143 c.7648G>A p.G2550S missense 0.00000824●●●●●●
883. 7585159 c.7664C>T p.T2555I missense 0.00000824●●●●●●
884. 7585174 c.7679T>C p.M2560T missense 0.00000824●●●●●●
885. 7585197 c.7702G>A p.G2568S missense 0.00002471●●●●●●
886. 7585201 c.7706C>T p.T2569I missense 0.00004119●●●●●●
887. 7585216 c.7721G>A p.G2574D missense 0.00000824●●●●●●
888. 7585222 c.7727G>T p.G2576V missense 0.00000824●●●●●●
889. 7585225 c.7730T>C p.V2577A missense 0.00000824●●●●●●
890. 7585229 c.7734C>G p.S2578R missense 0.00000824●●●●●●
891. 7585230 c.7735G>A p.D2579N missense 0.00001648●●●●●●
892. 7585233 c.7738G>T p.D2580Y missense 0.00000824●●●●●●
893. 7585240 c.7745T>G p.F2582C missense 0.00001648●●●●●●
894. 7585245 c.7750A>G p.S2584G missense 0.00000824●●●●●●
895. 7585252 c.7757G>A p.R2586Q missense 0.00000824●●●●●●
896. 7585255 c.7760A>G p.H2587R missense 0.00000824●●●●●●
897. 7585262 c.7767_7770delAGTA p.Ser2591ArgfsTer11 frameshift 0.00000824●●●●●●
898. 7585273 c.7778T>G p.I2593S missense 0.00000825●●●●●●
899. 7585279 c.7784C>T p.T2595I missense 0.00000825●●●●●●
900. 7585282 c.7787T>C p.I2596T missense 0.00000825●●●●●●
901. 7585299 c.7804T>G p.L2602V missense 0.00000826●●●●●●
902. 7585312 c.7817G>A p.S2606N missense 0.00004957●●●●●●
903. 7585318 c.7823C>A p.S2608Y missense 0.00000827●●●●●●
904. 7585342 c.7847C>T p.S2616L missense 0.00000828●●●●●●
905. 7585345 c.7850G>A p.S2617N missense 0.00000828●●●●●●
906. 7585347 c.7852C>T p.P2618S missense 0.00003312●●●●●●
907. 7585350 c.7855A>G p.I2619V missense 0.00001656●●●●●●
908. 7585359 c.7864A>G p.I2622V missense 0.00001657●●●●●●
909. 7585371 c.7876G>C p.E2626Q missense 0.00001659●●●●●●
910. 7585378 c.7883T>C p.L2628P missense 0.00013270●●●●●●
911. 7585380 c.7885G>A p.E2629K missense 0.00000829●●●●●●
912. 7585410 c.7915C>T p.R2639W missense 0.00004146●●●●●●
913. 7585411 c.7916G>A p.R2639Q missense 0.00097805●●●●●●
914. 7585413 c.7918G>T p.G2640C missense 0.00000829●●●●●●
915. 7585429 c.7934T>C p.I2645T missense 0.00001657●●●●●●
916. 7585435 c.7940G>A p.G2647D missense 0.00000828●●●●●●
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918. 7585458 c.7963G>T p.A2655S missense 0.00000829●●●●●●
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920. 7585468 c.7973G>T p.G2658V missense 0.00000829●●●●●●
921. 7585481 c.7986C>A p.H2662Q missense 0.00014088●●●●●●
922. 7585489 c.7994C>T p.T2665M missense 0.00002486●●●●●●
923. 7585492 c.7997G>A p.G2666D missense 0.00000829●●●●●●
924. 7585496 c.8001G>C p.Q2667H missense 0.00000828●●●●●●
925. 7585516 c.8021C>G p.A2674G missense 0.00000828●●●●●●
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930. 7585539 c.8044C>G p.Q2682E missense 0.00002481●●●●●●
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937. 7585602 c.8107G>A p.G2703R missense 0.00000825●●●●●●
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940. 7585613 c.8118G>C p.K2706N missense 0.00002474●●●●●●
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945. 7585658 c.8163G>T p.E2721D missense 0.00000825●●●●●●
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950. 7585704 c.8209G>C p.V2737L missense 0.00001650●●●●●●
951. 7585711 c.8216C>T p.P2739L missense 0.00000825●●●●●●
952. 7585716 c.8221G>A p.V2741M missense 0.00000825●●●●●●
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963. 7585795 c.8300C>A p.T2767N missense 0.00212116●●●●●●
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967. 7585838 c.8343A>T p.L2781F missense 0.00000825●●●●●●
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972. 7585869 c.8374T>A p.S2792T missense 0.00003298●●●●●●
973. 7585885 c.8390T>C p.I2797T missense 0.00003299●●●●●●
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977. 7585899 c.8404C>T p.L2802F missense 0.00000825●●●●●●
978. 7585926 c.8431A>G p.K2811E missense 0.00000826●●●●●●
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980. 7585950 c.8455A>C p.M2819L missense 0.00171989●●●●●●
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985. 7585968 c.8473_8484delTCCCGCTCCGGC p.Ser2825_Gly2828del inframe 0.00004141●●●●●●
986. 7585971 c.8476C>T p.R2826C missense 0.00000834●●●●●●
987. 7585972 c.8477G>A p.R2826H missense 0.00000834●●●●●●
988. 7585977 c.8482G>A p.G2828S missense 0.00002503●●●●●●
989. 7585980 c.8485_8496delTCCCGCTCGGGA p.Ser2829_Gly2832del inframe 0.00005849●●●●●●
990. 7585987 c.8492C>T p.S2831L missense 0.00000835●●●●●●
991. 7585989 c.8494G>A p.G2832R missense 0.00000835●●●●●●
992. 7585989 c.8494_8505delGGATCTCGCTCC p.Gly2832_Ser2835del inframe 0.00024222●●●●●●
993. 7585990 c.8495G>T p.G2832V missense 0.00000835●●●●●●
994. 7585993 c.8498C>G p.S2833C missense 0.00001671●●●●●●
995. 7585993 c.8498_8499insCCCGCTCCGGA p.Ser2835_Gly2836insGlySerArgSer inframe 0.00000835●●●●●●
996. 7585995 c.8500C>T p.R2834C missense 0.00001672●●●●●●
997. 7586000 c.8505_8506insGGATCTCGCTCC p.Ser2835_Gly2836insGlySerArgSer inframe 0.00005011●●●●●●
998. 7586001 c.8506G>A p.G2836R missense 0.00000837●●●●●●
999. 7586002 c.8507G>A p.G2836E missense 0.00005016●●●●●●
1000. 7586007 c.8512C>T p.R2838C missense 0.00001674●●●●●●
1001. 7586011 c.8516C>G p.S2839C missense 0.00000838●●●●●●
1002. 7586013 c.8518G>T p.G2840W missense 0.00000837●●●●●●
1003. 7586022 c.8527_8538delAGTGGGTCCCGG p.Ser2843_Arg2846del inframe 0.00041825●●●●●●
1004. 7586026 c.8531G>T p.G2844V missense 0.00000836●●●●●●
1005. 7586026 c.8531G>C p.G2844A missense 0.00000836●●●●●●
1006. 7586032 c.8537G>A p.R2846Q missense 0.00000836●●●●●●
1007. 7586055 c.8560G>C p.G2854R missense 0.00000836●●●●●●
1008. 7586059 c.8564A>T p.N2855I missense 0.00000836●●●●●●
1009. 7586061 c.8566T>A p.S2856T missense 0.00000837●●●●●●
1010. 7586077 c.8582delC p.Tyr2862ThrfsTer21 frameshift 0.00002520●●●●●●
1011. 7586085 c.8590T>C p.F2864L missense 0.00002525●●●●●●
1012. 7586100 c.8605A>G p.I2869V missense 0.00216078●●●●●●

* 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.