DSP missense variants in ExAC

DSP gene summary
DSP variants in DCM

The table below lists the DSP missense 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. 7558359 c.284A>G p.Y95C missense 0.00002471●●●●●●
37. 7558362 c.287G>C p.G96A missense 0.00000824●●●●●●
38. 7558366 c.291T>G p.D97E missense 0.00000824●●●●●●
39. 7558374 c.299A>T p.Q100L missense 0.00000824●●●●●●
40. 7558375 c.300A>T p.Q100H missense 0.00004118●●●●●●
41. 7558379 c.304A>C p.T102P missense 0.00000824●●●●●●
42. 7558382 c.307C>T p.R103W missense 0.00002471●●●●●●
43. 7558382 c.307C>G p.R103G missense 0.00001647●●●●●●
44. 7558383 c.308G>A p.R103Q missense 0.00000824●●●●●●
45. 7558389 c.314G>A p.R105Q missense 0.00004118●●●●●●
46. 7558409 c.334G>T p.A112S missense 0.00000824●●●●●●
47. 7558415 c.340G>A p.A114T missense 0.00003295●●●●●●
48. 7558419 c.344A>G p.N115S missense 0.00005766●●●●●●
49. 7558428 c.353T>C p.M118T missense 0.00000824●●●●●●
50. 7558439 c.364G>A p.D122N missense 0.00000824●●●●●●
51. 7558460 c.385C>T p.R129W missense 0.00001655●●●●●●
52. 7558461 c.386G>A p.R129Q missense 0.00000828●●●●●●
53. 7558483 c.408T>G p.D136E missense 0.00001716●●●●●●
54. 7559459 c.423G>C p.R141S missense 0.00000826●●●●●●
55. 7559460 c.424C>T p.L142F missense 0.00002477●●●●●●
56. 7559464 c.428T>C p.L143P missense 0.00000825●●●●●●
57. 7559467 c.431A>C p.Q144P missense 0.00000825●●●●●●
58. 7559481 c.445A>T p.M149L missense 0.00000824●●●●●●
59. 7559485 c.449G>A p.R150Q missense 0.00002471●●●●●●
60. 7559502 c.466A>C p.I156L missense 0.00000824●●●●●●
61. 7559502 c.466A>G p.I156V missense 0.00000824●●●●●●
62. 7559503 c.467T>A p.I156N missense 0.00001647●●●●●●
63. 7559515 c.479G>A p.R160Q missense 0.00002471●●●●●●
64. 7559520 c.484C>G p.R162G missense 0.00002471●●●●●●
65. 7559520 c.484C>T p.R162C missense 0.00002471●●●●●●
66. 7559521 c.485G>A p.R162H missense 0.00001647●●●●●●
67. 7559521 c.485G>T p.R162L missense 0.00000824●●●●●●
68. 7559527 c.491C>T p.A164V missense 0.00000824●●●●●●
69. 7559539 c.503G>C p.G168A missense 0.00000824●●●●●●
70. 7559544 c.508G>A p.G170R missense 0.00001647●●●●●●
71. 7559554 c.518C>T p.T173I missense 0.00000824●●●●●●
72. 7559557 c.521G>T p.C174F missense 0.00005765●●●●●●
73. 7559557 c.521G>A p.C174Y missense 0.00000824●●●●●●
74. 7559571 c.535G>A p.G179S missense 0.00001647●●●●●●
75. 7559576 c.540G>C p.W180C missense 0.00000824●●●●●●
76. 7559589 c.553A>G p.K185E missense 0.00001647●●●●●●
77. 7559590 c.554A>G p.K185R missense 0.00000824●●●●●●
78. 7559601 c.565A>G p.S189G missense 0.00000824●●●●●●
79. 7559608 c.572G>A p.C191Y missense 0.00000824●●●●●●
80. 7559611 c.575T>C p.L192S missense 0.00000824●●●●●●
81. 7559614 c.578G>C p.G193A missense 0.00000824●●●●●●
82. 7559619 c.583A>G p.M195V missense 0.00001648●●●●●●
83. 7559622 c.586A>G p.R196G missense 0.00000824●●●●●●
84. 7559632 c.596G>A p.R199K missense 0.00002474●●●●●●
85. 7562912 c.625G>A p.V209M missense 0.00000824●●●●●●
86. 7562927 c.640G>A p.V214M missense 0.00000824●●●●●●
87. 7562930 c.643G>A p.E215K missense 0.00006589●●●●●●
88. 7562952 c.665G>A p.R222Q missense 0.00001647●●●●●●
89. 7562952 c.665G>C p.R222P missense 0.00000824●●●●●●
90. 7562954 c.667G>A p.G223S missense 0.00004942●●●●●●
91. 7562957 c.670A>G p.I224V missense 0.00000824●●●●●●
92. 7562972 c.685G>A p.G229S missense 0.00000824●●●●●●
93. 7562972 c.685G>T p.G229C missense 0.00000824●●●●●●
94. 7562973 c.686G>A p.G229D missense 0.00000824●●●●●●
95. 7562975 c.688G>A p.D230N missense 0.00039537●●●●●●
96. 7562979 c.692A>G p.Y231C missense 0.00001647●●●●●●
97. 7562981 c.694C>T p.R232C missense 0.00000824●●●●●●
98. 7562982 c.695G>A p.R232H missense 0.00000824●●●●●●
99. 7563970 c.728G>A p.R243H missense 0.00000824●●●●●●
100. 7563982 c.740C>T p.A247V missense 0.00003295●●●●●●
101. 7565596 c.782C>T p.A261V missense 0.00014848●●●●●●
102. 7565627 c.813G>T p.Q271H missense 0.00000824●●●●●●
103. 7565636 c.822C>G p.N274K missense 0.00000824●●●●●●
104. 7565655 c.841A>G p.R281G missense 0.00000824●●●●●●
105. 7565664 c.850A>G p.M284V missense 0.00000824●●●●●●
106. 7565674 c.860A>G p.N287S missense 0.00000824●●●●●●
107. 7565676 c.862G>A p.D288N missense 0.00002472●●●●●●
108. 7565703 c.889G>A p.D297N missense 0.00008240●●●●●●
109. 7565712 c.898G>A p.D300N missense 0.00000824●●●●●●
110. 7565714 c.900C>A p.D300E missense 0.00000824●●●●●●
111. 7565725 c.911A>T p.N304I missense 0.00000824●●●●●●
112. 7565727 c.913A>T p.I305F missense 0.02992749●●●●●●
113. 7565727 c.913A>G p.I305V missense 0.00000824●●●●●●
114. 7565730 c.916G>A p.A306T missense 0.00004944●●●●●●
115. 7566613 c.943C>T p.R315C missense 0.00007456●●●●●●
116. 7566614 c.944G>T p.R315L missense 0.00002485●●●●●●
117. 7566614 c.944G>A p.R315H missense 0.00000828●●●●●●
118. 7566616 c.946A>G p.M316V missense 0.00002484●●●●●●
119. 7566631 c.961G>C p.V321L missense 0.00002480●●●●●●
120. 7566635 c.965A>G p.K322R missense 0.00000826●●●●●●
121. 7566640 c.970A>C p.K324Q missense 0.00000826●●●●●●
122. 7566644 c.974A>G p.E325G missense 0.00000826●●●●●●
123. 7566662 c.992A>G p.Q331R missense 0.00000826●●●●●●
124. 7566662 c.992A>C p.Q331P missense 0.00000826●●●●●●
125. 7566667 c.997A>G p.S333G missense 0.00000826●●●●●●
126. 7566668 c.998G>A p.S333N missense 0.00000826●●●●●●
127. 7566672 c.1002C>A p.D334E missense 0.00001652●●●●●●
128. 7566676 c.1006C>T p.L336F missense 0.00000826●●●●●●
129. 7566680 c.1010T>C p.V337A missense 0.00000826●●●●●●
130. 7566682 c.1012C>T p.L338F missense 0.00000826●●●●●●
131. 7566686 c.1016A>G p.N339S missense 0.00001653●●●●●●
132. 7566704 c.1034A>G p.D345G missense 0.00003311●●●●●●
133. 7566710 c.1040T>C p.I347T missense 0.00000829●●●●●●
134. 7567609 c.1067C>T p.T356M missense 0.00000824●●●●●●
135. 7567631 c.1089G>C p.Q363H missense 0.00000824●●●●●●
136. 7567636 c.1094C>T p.T365I missense 0.00000824●●●●●●
137. 7567645 c.1103T>C p.I368T missense 0.00007413●●●●●●
138. 7567648 c.1106A>T p.D369V missense 0.00000824●●●●●●
139. 7567677 c.1135T>A p.F379I missense 0.00000824●●●●●●
140. 7568026 c.1153G>T p.A385S missense 0.00002474●●●●●●
141. 7568027 c.1154C>T p.A385V missense 0.00014843●●●●●●
142. 7568031 c.1158G>T p.Q386H missense 0.00000825●●●●●●
143. 7568033 c.1160C>T p.S387F missense 0.00000825●●●●●●
144. 7568035 c.1162A>G p.T388A missense 0.00000825●●●●●●
145. 7568053 c.1180G>A p.G394R missense 0.00000825●●●●●●
146. 7568066 c.1193C>T p.S398F missense 0.00000825●●●●●●
147. 7568070 c.1197C>G p.I399M missense 0.00001651●●●●●●
148. 7568095 c.1222A>C p.N408H missense 0.00002480●●●●●●
149. 7568097 c.1224C>A p.N408K missense 0.00000827●●●●●●
150. 7568105 c.1232T>C p.L411P missense 0.00000827●●●●●●
151. 7568110 c.1237C>T p.H413Y missense 0.00000828●●●●●●
152. 7568127 c.1254C>G p.I418M missense 0.00000830●●●●●●
153. 7568134 c.1261C>G p.L421V missense 0.00000831●●●●●●
154. 7568135 c.1262T>C p.L421P missense 0.00000831●●●●●●
155. 7568677 c.1274G>A p.R425Q missense 0.00002472●●●●●●
156. 7568679 c.1276G>A p.E426K missense 0.00000824●●●●●●
157. 7568686 c.1283T>A p.I428N missense 0.00000824●●●●●●
158. 7568689 c.1286T>C p.L429P missense 0.00000824●●●●●●
159. 7568691 c.1288G>A p.E430K missense 0.00000824●●●●●●
160. 7568700 c.1297C>T p.R433C missense 0.00001648●●●●●●
161. 7568701 c.1298G>A p.R433H missense 0.00002471●●●●●●
162. 7568727 c.1324T>G p.S442A missense 0.00002471●●●●●●
163. 7568752 c.1349C>T p.P450L missense 0.00001648●●●●●●
164. 7568765 c.1362C>A p.D454E missense 0.00000824●●●●●●
165. 7568781 c.1378C>G p.P460A missense 0.00000824●●●●●●
166. 7568782 c.1379C>T p.P460L missense 0.00000824●●●●●●
167. 7568815 c.1412A>G p.Q471R missense 0.00000825●●●●●●
168. 7568821 c.1418A>G p.Q473R missense 0.00004124●●●●●●
169. 7569425 c.1426G>A p.V476M missense 0.00004119●●●●●●
170. 7569425 c.1426G>T p.V476L missense 0.00000824●●●●●●
171. 7569443 c.1444T>G p.C482G missense 0.00001647●●●●●●
172. 7569467 c.1468C>T p.R490C missense 0.00004118●●●●●●
173. 7569468 c.1469G>A p.R490H missense 0.00004118●●●●●●
174. 7569480 c.1481A>T p.Y494F missense 0.01176238●●●●●●
175. 7569482 c.1483G>A p.V495M missense 0.00013178●●●●●●
176. 7569486 c.1487C>T p.T496M missense 0.00002471●●●●●●
177. 7569492 c.1493C>T p.P498L missense 0.00002471●●●●●●
178. 7569498 c.1499G>A p.G500D missense 0.00000824●●●●●●
179. 7569500 c.1501G>A p.V501I missense 0.00005765●●●●●●
180. 7569503 c.1504G>A p.D502N missense 0.00000824●●●●●●
181. 7569508 c.1509G>T p.M503I missense 0.00000824●●●●●●
182. 7569521 c.1522G>A p.V508M missense 0.00000824●●●●●●
183. 7569533 c.1534A>G p.I512V missense 0.00004118●●●●●●
184. 7569539 c.1540C>T p.P514S missense 0.00000824●●●●●●
185. 7569557 c.1558G>A p.V520M missense 0.00001647●●●●●●
186. 7569561 c.1562A>C p.D521A missense 0.00002471●●●●●●
187. 7569562 c.1563C>A p.D521E missense 0.00000824●●●●●●
188. 7570698 c.1603G>T p.A535S missense 0.00000824●●●●●●
189. 7570725 c.1630A>C p.M544L missense 0.00003295●●●●●●
190. 7570726 c.1631T>C p.M544T missense 0.00000824●●●●●●
191. 7570758 c.1663A>T p.I555F missense 0.00000824●●●●●●
192. 7570766 c.1671A>G p.I557M missense 0.00000824●●●●●●
193. 7570767 c.1672G>C p.E558Q missense 0.00001647●●●●●●
194. 7570780 c.1685C>T p.A562V missense 0.00000824●●●●●●
195. 7570791 c.1696G>A p.A566T missense 0.00018126●●●●●●
196. 7571623 c.1709C>T p.T570I missense 0.00001650●●●●●●
197. 7571629 c.1715G>A p.R572Q missense 0.00001650●●●●●●
198. 7571643 c.1729A>C p.M577L missense 0.00000825●●●●●●
199. 7571644 c.1730T>C p.M577T missense 0.00001650●●●●●●
200. 7571646 c.1732A>C p.K578Q missense 0.00000825●●●●●●
201. 7571650 c.1736C>T p.T579M missense 0.00000825●●●●●●
202. 7571652 c.1738A>G p.I580V missense 0.00000825●●●●●●
203. 7571658 c.1744G>A p.D582N missense 0.00000825●●●●●●
204. 7571664 c.1750G>A p.E584K missense 0.00000825●●●●●●
205. 7571692 c.1778A>G p.N593S missense 0.00051122●●●●●●
206. 7571695 c.1781G>T p.S594I missense 0.00000825●●●●●●
207. 7571721 c.1807G>C p.D603H missense 0.00000825●●●●●●
208. 7571730 c.1816C>T p.R606W missense 0.00002474●●●●●●
209. 7571731 c.1817G>A p.R606Q missense 0.00003298●●●●●●
210. 7571738 c.1824A>G p.I608M missense 0.00000825●●●●●●
211. 7571754 c.1840G>A p.D614N missense 0.00003298●●●●●●
212. 7571766 c.1852C>T p.H618Y missense 0.00000825●●●●●●
213. 7571815 c.1901C>G p.T634R missense 0.00000826●●●●●●
214. 7571815 c.1901C>A p.T634K missense 0.00000826●●●●●●
215. 7572117 c.1946T>C p.V649A missense 0.00000827●●●●●●
216. 7572120 c.1949A>G p.N650S missense 0.00003306●●●●●●
217. 7572121 c.1950C>A p.N650K missense 0.00000826●●●●●●
218. 7572126 c.1955A>G p.N652S missense 0.00000826●●●●●●
219. 7572131 c.1960G>A p.V654I missense 0.00001651●●●●●●
220. 7572134 c.1963A>T p.I655F missense 0.00000825●●●●●●
221. 7572137 c.1966G>A p.E656K missense 0.00000825●●●●●●
222. 7572144 c.1973A>G p.N658S missense 0.00000825●●●●●●
223. 7572159 c.1988A>G p.K663R missense 0.00001649●●●●●●
224. 7572167 c.1996A>G p.T666A missense 0.00000824●●●●●●
225. 7572171 c.2000G>C p.W667S missense 0.00001649●●●●●●
226. 7572173 c.2002A>G p.M668V missense 0.00000824●●●●●●
227. 7572174 c.2003T>C p.M668T missense 0.00000824●●●●●●
228. 7572179 c.2008A>G p.M670V missense 0.00000824●●●●●●
229. 7572184 c.2013G>C p.E671D missense 0.00000824●●●●●●
230. 7572189 c.2018A>C p.Q673P missense 0.00004945●●●●●●
231. 7572194 c.2023A>G p.I675V missense 0.00002472●●●●●●
232. 7572194 c.2023A>T p.I675F missense 0.00000824●●●●●●
233. 7572197 c.2026C>T p.R676C missense 0.00001648●●●●●●
234. 7572198 c.2027G>A p.R676H missense 0.00001648●●●●●●
235. 7572201 c.2030G>A p.R677K missense 0.00002472●●●●●●
236. 7572208 c.2037A>G p.I679M missense 0.00004120●●●●●●
237. 7572212 c.2041C>G p.H681D missense 0.00000824●●●●●●
238. 7572213 c.2042A>G p.H681R missense 0.00000824●●●●●●
239. 7572218 c.2047G>A p.E683K missense 0.00001648●●●●●●
240. 7572245 c.2074C>G p.P692A missense 0.00000824●●●●●●
241. 7572252 c.2081C>T p.A694V missense 0.00001648●●●●●●
242. 7572254 c.2083G>C p.D695H missense 0.00000824●●●●●●
243. 7572277 c.2106C>G p.I702M missense 0.00000830●●●●●●
244. 7572290 c.2119A>G p.N707D missense 0.00000840●●●●●●
245. 7572293 c.2122G>A p.E708K missense 0.00000843●●●●●●
246. 7574322 c.2134G>A p.V712M missense 0.00000825●●●●●●
247. 7574341 c.2153C>T p.A718V missense 0.00000824●●●●●●
248. 7574344 c.2156T>C p.I719T missense 0.00000824●●●●●●
249. 7574359 c.2171A>C p.N724T missense 0.00000824●●●●●●
250. 7574372 c.2184T>A p.D728E missense 0.00002472●●●●●●
251. 7574374 c.2186T>G p.M729R missense 0.00000824●●●●●●
252. 7574379 c.2191G>A p.A731T missense 0.00000824●●●●●●
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532. 7581174 c.4751C>T p.A1584V missense 0.00000838●●●●●●
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535. 7581213 c.4790A>C p.E1597A missense 0.00000841●●●●●●
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538. 7581234 c.4811C>T p.S1604L missense 0.00000844●●●●●●
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545. 7581317 c.4894G>C p.D1632H missense 0.00000842●●●●●●
546. 7581317 c.4894G>A p.D1632N missense 0.00000842●●●●●●
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553. 7581384 c.4961T>C p.L1654P missense 0.00001667●●●●●●
554. 7581396 c.4973C>T p.S1658F missense 0.00000833●●●●●●
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559. 7581429 c.5006T>A p.L1669H missense 0.00000832●●●●●●
560. 7581433 c.5010G>C p.Q1670H missense 0.00000832●●●●●●
561. 7581442 c.5019A>T p.E1673D missense 0.00000832●●●●●●
562. 7581458 c.5035C>T p.H1679Y missense 0.00000832●●●●●●
563. 7581470 c.5047G>A p.E1683K missense 0.00000832●●●●●●
564. 7581484 c.5061G>C p.K1687N missense 0.00000832●●●●●●
565. 7581485 c.5062G>A p.A1688T missense 0.00005822●●●●●●
566. 7581486 c.5063C>T p.A1688V missense 0.00002495●●●●●●
567. 7581494 c.5071G>A p.D1691N missense 0.00000832●●●●●●
568. 7581543 c.5120A>G p.Q1707R missense 0.00000830●●●●●●
569. 7581546 c.5123C>T p.S1708F missense 0.00001659●●●●●●
570. 7581546 c.5123C>G p.S1708C missense 0.00000829●●●●●●
571. 7581561 c.5138T>C p.L1713P missense 0.00000829●●●●●●
572. 7581582 c.5159T>C p.L1720S missense 0.00000828●●●●●●
573. 7581590 c.5167G>C p.E1723Q missense 0.00021517●●●●●●
574. 7581596 c.5173C>T p.R1725W missense 0.00019855●●●●●●
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576. 7581603 c.5180T>C p.L1727P missense 0.00000827●●●●●●
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580. 7581636 c.5213G>A p.R1738Q missense 0.17240810●●●●●●
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585. 7581680 c.5257A>T p.R1753W missense 0.00000826●●●●●●
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591. 7581732 c.5309T>C p.I1770T missense 0.00000831●●●●●●
592. 7581747 c.5324G>T p.R1775I missense 0.00008338●●●●●●
593. 7581786 c.5363A>G p.Q1788R missense 0.00005925●●●●●●
594. 7582878 c.5383T>A p.S1795T missense 0.00000827●●●●●●
595. 7582881 c.5386A>G p.N1796D missense 0.00007438●●●●●●
596. 7582885 c.5390G>C p.R1797T missense 0.00000826●●●●●●
597. 7582890 c.5395C>G p.Q1799E missense 0.00000825●●●●●●
598. 7582907 c.5412G>T p.Q1804H missense 0.00003297●●●●●●
599. 7582908 c.5413T>G p.C1805G missense 0.00000824●●●●●●
600. 7582909 c.5414G>A p.C1805Y missense 0.00003297●●●●●●
601. 7582912 c.5417C>G p.T1806S missense 0.00002473●●●●●●
602. 7582974 c.5479G>A p.A1827T missense 0.00000824●●●●●●
603. 7582980 c.5485C>G p.L1829V missense 0.00000824●●●●●●
604. 7582993 c.5498A>T p.E1833V missense 0.00946015●●●●●●
605. 7582993 c.5498A>G p.E1833G missense 0.00006610●●●●●●
606. 7583008 c.5513G>A p.R1838H missense 0.00005767●●●●●●
607. 7583017 c.5522C>T p.S1841L missense 0.00004119●●●●●●
608. 7583049 c.5554C>T p.R1852C missense 0.00028829●●●●●●
609. 7583050 c.5555G>A p.R1852H missense 0.00023887●●●●●●
610. 7583081 c.5586T>G p.N1862K missense 0.00000824●●●●●●
611. 7583088 c.5593A>T p.N1865Y missense 0.00051073●●●●●●
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613. 7583093 c.5598G>C p.Q1866H missense 0.00000824●●●●●●
614. 7583104 c.5609A>G p.Q1870R missense 0.00000824●●●●●●
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616. 7583112 c.5617C>T p.R1873C missense 0.00008239●●●●●●
617. 7583113 c.5618G>A p.R1873H missense 0.00004120●●●●●●
618. 7583151 c.5656G>C p.E1886Q missense 0.00000825●●●●●●
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620. 7583164 c.5669G>C p.R1890T missense 0.00000825●●●●●●
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622. 7583182 c.5687G>C p.R1896T missense 0.00000826●●●●●●
623. 7583193 c.5698G>A p.E1900K missense 0.00001652●●●●●●
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626. 7583221 c.5726T>C p.I1909T missense 0.00000826●●●●●●
627. 7583239 c.5744G>A p.R1915H missense 0.00016535●●●●●●
628. 7583289 c.5794C>T p.R1932C missense 0.00004139●●●●●●
629. 7583290 c.5795G>A p.R1932H missense 0.00002483●●●●●●
630. 7583299 c.5804A>G p.Y1935C missense 0.00000828●●●●●●
631. 7583303 c.5808G>C p.Q1936H missense 0.00000828●●●●●●
632. 7583305 c.5810G>A p.R1937K missense 0.00000828●●●●●●
633. 7583317 c.5822A>C p.K1941T missense 0.00001656●●●●●●
634. 7583329 c.5834G>A p.R1945H missense 0.00000828●●●●●●
635. 7583334 c.5839T>C p.Y1947H missense 0.00000828●●●●●●
636. 7583359 c.5864C>T p.T1955I missense 0.00000828●●●●●●
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639. 7583394 c.5899G>A p.V1967M missense 0.00000827●●●●●●
640. 7583407 c.5912T>C p.L1971P missense 0.00000826●●●●●●
641. 7583416 c.5921A>T p.K1974M missense 0.00000826●●●●●●
642. 7583427 c.5932A>G p.M1978V missense 0.00000826●●●●●●
643. 7583430 c.5935C>G p.Q1979E missense 0.00000825●●●●●●
644. 7583446 c.5951A>T p.Q1984L missense 0.00000825●●●●●●
645. 7583453 c.5958C>G p.I1986M missense 0.00000825●●●●●●
646. 7583454 c.5959G>A p.D1987N missense 0.00002476●●●●●●
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648. 7583467 c.5972T>C p.L1991S missense 0.00001651●●●●●●
649. 7583471 c.5976C>A p.D1992E missense 0.00001652●●●●●●
650. 7583505 c.6010G>T p.V2004F missense 0.00000827●●●●●●
651. 7583509 c.6014C>T p.A2005V missense 0.00000827●●●●●●
652. 7583523 c.6028C>T p.P2010S missense 0.00001655●●●●●●
653. 7583529 c.6034C>T p.L2012F missense 0.00000828●●●●●●
654. 7583532 c.6037C>T p.R2013W missense 0.00001655●●●●●●
655. 7583542 c.6047G>A p.G2016E missense 0.00000828●●●●●●
656. 7583550 c.6055G>T p.A2019S missense 0.00002484●●●●●●
657. 7583550 c.6055G>A p.A2019T missense 0.00000828●●●●●●
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660. 7583562 c.6067G>T p.A2023S missense 0.00000828●●●●●●
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662. 7583566 c.6071C>T p.S2024F missense 0.00000828●●●●●●
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685. 7583754 c.6259T>C p.Y2087H missense 0.00000828●●●●●●
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727. 7584085 c.6590G>A p.G2197D missense 0.00000824●●●●●●
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729. 7584096 c.6601C>T p.L2201F missense 0.00000824●●●●●●
730. 7584102 c.6607G>C p.V2203L missense 0.00000824●●●●●●
731. 7584125 c.6630C>A p.F2210L missense 0.00000824●●●●●●
732. 7584150 c.6655G>A p.V2219I missense 0.00057663●●●●●●
733. 7584184 c.6689C>T p.P2230L missense 0.00004119●●●●●●
734. 7584213 c.6718C>G p.Q2240E missense 0.00005772●●●●●●
735. 7584219 c.6724T>C p.S2242P missense 0.00000825●●●●●●
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738. 7584260 c.6765G>T p.Q2255H missense 0.00003301●●●●●●
739. 7584260 c.6765G>C p.Q2255H missense 0.00000825●●●●●●
740. 7584271 c.6776G>A p.C2259Y missense 0.00000825●●●●●●
741. 7584282 c.6787A>G p.I2263V missense 0.00000824●●●●●●
742. 7584294 c.6799A>T p.T2267S missense 0.00033780●●●●●●
743. 7584376 c.6881C>G p.A2294G missense 0.00084835●●●●●●
744. 7584397 c.6902T>C p.I2301T missense 0.00001647●●●●●●
745. 7584427 c.6932C>T p.P2311L missense 0.00001647●●●●●●
746. 7584448 c.6953G>C p.R2318T missense 0.00000824●●●●●●
747. 7584451 c.6956G>A p.G2319D missense 0.00000824●●●●●●
748. 7584456 c.6961G>A p.V2321M missense 0.00000824●●●●●●
749. 7584479 c.6984G>T p.K2328N missense 0.00000824●●●●●●
750. 7584484 c.6989T>G p.L2330R missense 0.00000824●●●●●●
751. 7584526 c.7031C>G p.T2344R missense 0.00000824●●●●●●
752. 7584528 c.7033G>C p.G2345R missense 0.00003296●●●●●●
753. 7584534 c.7039A>G p.I2347V missense 0.00002472●●●●●●
754. 7584534 c.7039A>C p.I2347L missense 0.00001648●●●●●●
755. 7584536 c.7041C>G p.I2347M missense 0.00000824●●●●●●
756. 7584541 c.7046C>G p.S2349C missense 0.00001648●●●●●●
757. 7584562 c.7067A>C p.K2356T missense 0.00000824●●●●●●
758. 7584570 c.7075A>G p.I2359V missense 0.00001648●●●●●●
759. 7584612 c.7117G>A p.A2373T missense 0.00002472●●●●●●
760. 7584648 c.7153C>T p.R2385C missense 0.00000824●●●●●●
761. 7584655 c.7160C>T p.P2387L missense 0.00000824●●●●●●
762. 7584657 c.7162G>A p.V2388I missense 0.00001648●●●●●●
763. 7584672 c.7177A>C p.K2393Q missense 0.00000824●●●●●●
764. 7584679 c.7184G>A p.G2395D missense 0.00001649●●●●●●
765. 7584708 c.7213C>A p.L2405I missense 0.00000825●●●●●●
766. 7584730 c.7235C>A p.T2412N missense 0.00000826●●●●●●
767. 7584744 c.7249G>T p.D2417Y missense 0.00000826●●●●●●
768. 7584774 c.7279C>A p.L2427M missense 0.00001653●●●●●●
769. 7584802 c.7307A>C p.D2436A missense 0.00000827●●●●●●
770. 7584836 c.7341A>C p.K2447N missense 0.00000827●●●●●●
771. 7584855 c.7360C>G p.Q2454E missense 0.00000826●●●●●●
772. 7584859 c.7364C>T p.T2455I missense 0.00004132●●●●●●
773. 7584869 c.7374G>T p.K2458N missense 0.00000826●●●●●●
774. 7584876 c.7381C>T p.L2461F missense 0.00000826●●●●●●
775. 7584885 c.7390C>T p.R2464C missense 0.00001652●●●●●●
776. 7584891 c.7396G>A p.V2466M missense 0.00000826●●●●●●
777. 7584922 c.7427A>G p.E2476G missense 0.00000825●●●●●●
778. 7584960 c.7465G>A p.D2489N missense 0.00000824●●●●●●
779. 7584963 c.7468T>C p.Y2490H missense 0.00000824●●●●●●
780. 7584996 c.7501T>C p.C2501R missense 0.00000824●●●●●●
781. 7585002 c.7507T>A p.W2503R missense 0.00000824●●●●●●
782. 7585029 c.7534G>T p.D2512Y missense 0.00000824●●●●●●
783. 7585033 c.7538G>A p.G2513D missense 0.00000824●●●●●●
784. 7585036 c.7541C>T p.S2514F missense 0.00000824●●●●●●
785. 7585039 c.7544C>G p.T2515S missense 0.00000824●●●●●●
786. 7585044 c.7549G>T p.V2517L missense 0.00000824●●●●●●
787. 7585047 c.7552G>A p.V2518I missense 0.00001647●●●●●●
788. 7585057 c.7562A>G p.D2521G missense 0.00001647●●●●●●
789. 7585078 c.7583A>G p.Y2528C missense 0.00000824●●●●●●
790. 7585084 c.7589T>C p.I2530T missense 0.00004118●●●●●●
791. 7585087 c.7592A>C p.Q2531P missense 0.00000824●●●●●●
792. 7585096 c.7601T>C p.I2534T missense 0.00000824●●●●●●
793. 7585102 c.7607A>T p.K2536M missense 0.00000824●●●●●●
794. 7585110 c.7615G>A p.V2539I missense 0.00000824●●●●●●
795. 7585113 c.7618G>A p.D2540N missense 0.00001647●●●●●●
796. 7585117 c.7622G>A p.R2541K missense 0.00002471●●●●●●
797. 7585125 c.7630T>G p.F2544V missense 0.00000824●●●●●●
798. 7585143 c.7648G>C p.G2550R missense 0.00001647●●●●●●
799. 7585143 c.7648G>A p.G2550S missense 0.00000824●●●●●●
800. 7585159 c.7664C>T p.T2555I missense 0.00000824●●●●●●
801. 7585174 c.7679T>C p.M2560T missense 0.00000824●●●●●●
802. 7585197 c.7702G>A p.G2568S missense 0.00002471●●●●●●
803. 7585201 c.7706C>T p.T2569I missense 0.00004119●●●●●●
804. 7585216 c.7721G>A p.G2574D missense 0.00000824●●●●●●
805. 7585222 c.7727G>T p.G2576V missense 0.00000824●●●●●●
806. 7585225 c.7730T>C p.V2577A missense 0.00000824●●●●●●
807. 7585229 c.7734C>G p.S2578R missense 0.00000824●●●●●●
808. 7585230 c.7735G>A p.D2579N missense 0.00001648●●●●●●
809. 7585233 c.7738G>T p.D2580Y missense 0.00000824●●●●●●
810. 7585240 c.7745T>G p.F2582C missense 0.00001648●●●●●●
811. 7585245 c.7750A>G p.S2584G missense 0.00000824●●●●●●
812. 7585252 c.7757G>A p.R2586Q missense 0.00000824●●●●●●
813. 7585255 c.7760A>G p.H2587R missense 0.00000824●●●●●●
814. 7585273 c.7778T>G p.I2593S missense 0.00000825●●●●●●
815. 7585279 c.7784C>T p.T2595I missense 0.00000825●●●●●●
816. 7585282 c.7787T>C p.I2596T missense 0.00000825●●●●●●
817. 7585299 c.7804T>G p.L2602V missense 0.00000826●●●●●●
818. 7585312 c.7817G>A p.S2606N missense 0.00004957●●●●●●
819. 7585318 c.7823C>A p.S2608Y missense 0.00000827●●●●●●
820. 7585342 c.7847C>T p.S2616L missense 0.00000828●●●●●●
821. 7585345 c.7850G>A p.S2617N missense 0.00000828●●●●●●
822. 7585347 c.7852C>T p.P2618S missense 0.00003312●●●●●●
823. 7585350 c.7855A>G p.I2619V missense 0.00001656●●●●●●
824. 7585359 c.7864A>G p.I2622V missense 0.00001657●●●●●●
825. 7585371 c.7876G>C p.E2626Q missense 0.00001659●●●●●●
826. 7585378 c.7883T>C p.L2628P missense 0.00013270●●●●●●
827. 7585380 c.7885G>A p.E2629K missense 0.00000829●●●●●●
828. 7585410 c.7915C>T p.R2639W missense 0.00004146●●●●●●
829. 7585411 c.7916G>A p.R2639Q missense 0.00097805●●●●●●
830. 7585413 c.7918G>T p.G2640C missense 0.00000829●●●●●●
831. 7585429 c.7934T>C p.I2645T missense 0.00001657●●●●●●
832. 7585435 c.7940G>A p.G2647D missense 0.00000828●●●●●●
833. 7585443 c.7948C>T p.L2650F missense 0.00000829●●●●●●
834. 7585458 c.7963G>T p.A2655S missense 0.00000829●●●●●●
835. 7585459 c.7964C>G p.A2655G missense 0.00004145●●●●●●
836. 7585468 c.7973G>T p.G2658V missense 0.00000829●●●●●●
837. 7585481 c.7986C>A p.H2662Q missense 0.00014088●●●●●●
838. 7585489 c.7994C>T p.T2665M missense 0.00002486●●●●●●
839. 7585492 c.7997G>A p.G2666D missense 0.00000829●●●●●●
840. 7585496 c.8001G>C p.Q2667H missense 0.00000828●●●●●●
841. 7585516 c.8021C>G p.A2674G missense 0.00000828●●●●●●
842. 7585525 c.8030A>G p.Q2677R missense 0.00001655●●●●●●
843. 7585528 c.8033G>A p.G2678D missense 0.00000827●●●●●●
844. 7585530 c.8035G>A p.V2679M missense 0.00000827●●●●●●
845. 7585537 c.8042A>C p.D2681A missense 0.00003308●●●●●●
846. 7585539 c.8044C>G p.Q2682E missense 0.00002481●●●●●●
847. 7585545 c.8050A>G p.M2684V missense 0.00000827●●●●●●
848. 7585548 c.8053G>T p.A2685S missense 0.00000827●●●●●●
849. 7585557 c.8062C>G p.L2688V missense 0.00000827●●●●●●
850. 7585557 c.8062C>A p.L2688M missense 0.00000827●●●●●●
851. 7585564 c.8069C>G p.P2690R missense 0.00000826●●●●●●
852. 7585579 c.8084T>A p.F2695Y missense 0.00000826●●●●●●
853. 7585602 c.8107G>A p.G2703R missense 0.00000825●●●●●●
854. 7585612 c.8117A>T p.K2706M missense 0.00004123●●●●●●
855. 7585613 c.8118G>C p.K2706N missense 0.00002474●●●●●●
856. 7585615 c.8120T>C p.M2707T missense 0.00000825●●●●●●
857. 7585621 c.8126C>T p.A2709V missense 0.00001649●●●●●●
858. 7585627 c.8132A>G p.E2711G missense 0.00000824●●●●●●
859. 7585628 c.8133G>T p.E2711D missense 0.00000824●●●●●●
860. 7585658 c.8163G>T p.E2721D missense 0.00000825●●●●●●
861. 7585667 c.8172G>T p.Q2724H missense 0.00003299●●●●●●
862. 7585668 c.8173C>T p.R2725C missense 0.00004948●●●●●●
863. 7585669 c.8174G>A p.R2725H missense 0.00000825●●●●●●
864. 7585686 c.8191T>C p.Y2731H missense 0.00280477●●●●●●
865. 7585704 c.8209G>C p.V2737L missense 0.00001650●●●●●●
866. 7585711 c.8216C>T p.P2739L missense 0.00000825●●●●●●
867. 7585716 c.8221G>A p.V2741M missense 0.00000825●●●●●●
868. 7585719 c.8224C>T p.H2742Y missense 0.00000825●●●●●●
869. 7585720 c.8225A>G p.H2742R missense 0.00000825●●●●●●
870. 7585728 c.8233A>G p.I2745V missense 0.00003301●●●●●●
871. 7585730 c.8235A>G p.I2745M missense 0.00000825●●●●●●
872. 7585733 c.8238C>G p.S2746R missense 0.00000825●●●●●●
873. 7585750 c.8255G>A p.R2752Q missense 0.00000826●●●●●●
874. 7585770 c.8275C>T p.R2759C missense 0.00000826●●●●●●
875. 7585774 c.8279C>T p.A2760V missense 0.00001651●●●●●●
876. 7585793 c.8298C>G p.D2766E missense 0.00000825●●●●●●
877. 7585795 c.8300C>A p.T2767N missense 0.00212116●●●●●●
878. 7585804 c.8309A>G p.Y2770C missense 0.00003301●●●●●●
879. 7585809 c.8314A>G p.K2772E missense 0.00000825●●●●●●
880. 7585825 c.8330C>A p.P2777H missense 0.00001650●●●●●●
881. 7585838 c.8343A>T p.L2781F missense 0.00000825●●●●●●
882. 7585849 c.8354A>G p.Y2785C missense 0.00001649●●●●●●
883. 7585858 c.8363C>T p.A2788V missense 0.00000824●●●●●●
884. 7585864 c.8369A>G p.N2790S missense 0.00000824●●●●●●
885. 7585867 c.8372G>A p.R2791H missense 0.00000824●●●●●●
886. 7585869 c.8374T>A p.S2792T missense 0.00003298●●●●●●
887. 7585885 c.8390T>C p.I2797T missense 0.00003299●●●●●●
888. 7585887 c.8392A>G p.T2798A missense 0.00000825●●●●●●
889. 7585896 c.8401C>G p.R2801G missense 0.00002475●●●●●●
890. 7585897 c.8402G>A p.R2801H missense 0.00000825●●●●●●
891. 7585899 c.8404C>T p.L2802F missense 0.00000825●●●●●●
892. 7585926 c.8431A>G p.K2811E missense 0.00000826●●●●●●
893. 7585936 c.8441C>G p.P2814R missense 0.00000827●●●●●●
894. 7585950 c.8455A>C p.M2819L missense 0.00171989●●●●●●
895. 7585954 c.8459C>T p.S2820F missense 0.00000828●●●●●●
896. 7585957 c.8462C>T p.S2821L missense 0.00001656●●●●●●
897. 7585962 c.8467C>G p.P2823A missense 0.00033131●●●●●●
898. 7585971 c.8476C>T p.R2826C missense 0.00000834●●●●●●
899. 7585972 c.8477G>A p.R2826H missense 0.00000834●●●●●●
900. 7585977 c.8482G>A p.G2828S missense 0.00002503●●●●●●
901. 7585987 c.8492C>T p.S2831L missense 0.00000835●●●●●●
902. 7585989 c.8494G>A p.G2832R missense 0.00000835●●●●●●
903. 7585990 c.8495G>T p.G2832V missense 0.00000835●●●●●●
904. 7585993 c.8498C>G p.S2833C missense 0.00001671●●●●●●
905. 7585995 c.8500C>T p.R2834C missense 0.00001672●●●●●●
906. 7586001 c.8506G>A p.G2836R missense 0.00000837●●●●●●
907. 7586002 c.8507G>A p.G2836E missense 0.00005016●●●●●●
908. 7586007 c.8512C>T p.R2838C missense 0.00001674●●●●●●
909. 7586011 c.8516C>G p.S2839C missense 0.00000838●●●●●●
910. 7586013 c.8518G>T p.G2840W missense 0.00000837●●●●●●
911. 7586026 c.8531G>T p.G2844V missense 0.00000836●●●●●●
912. 7586026 c.8531G>C p.G2844A missense 0.00000836●●●●●●
913. 7586032 c.8537G>A p.R2846Q missense 0.00000836●●●●●●
914. 7586055 c.8560G>C p.G2854R missense 0.00000836●●●●●●
915. 7586059 c.8564A>T p.N2855I missense 0.00000836●●●●●●
916. 7586061 c.8566T>A p.S2856T missense 0.00000837●●●●●●
917. 7586085 c.8590T>C p.F2864L missense 0.00002525●●●●●●
918. 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.