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. 7581636 c.5213G>A p.R1738Q missense 0.17240810●●●●●●
2. 7580958 c.4535A>G p.Y1512C missense 0.11560290●●●●●●
3. 7565727 c.913A>T p.I305F missense 0.02992749●●●●●●
4. 7581001 c.4578C>A p.N1526K missense 0.01351531●●●●●●
5. 7569480 c.1481A>T p.Y494F missense 0.01176238●●●●●●
6. 7582993 c.5498A>T p.E1833V missense 0.00946015●●●●●●
7. 7581032 c.4609C>T p.R1537C missense 0.00913512●●●●●●
8. 7542160 c.12C>G p.N4K missense 0.00497197●●●●●●
9. 7583703 c.6208G>A p.D2070N missense 0.00391873●●●●●●
10. 7577213 c.2815G>A p.G939S missense 0.00368648●●●●●●
11. 7542236 c.88G>A p.V30M missense 0.00310766●●●●●●
12. 7585686 c.8191T>C p.Y2731H missense 0.00280477●●●●●●
13. 7586100 c.8605A>G p.I2869V missense 0.00216078●●●●●●
14. 7585795 c.8300C>A p.T2767N missense 0.00212116●●●●●●
15. 7580878 c.4455G>T p.R1485S missense 0.00175366●●●●●●
16. 7580795 c.4372C>G p.R1458G missense 0.00173703●●●●●●
17. 7585950 c.8455A>C p.M2819L missense 0.00171989●●●●●●
18. 7581011 c.4588G>T p.V1530F missense 0.00133205●●●●●●
19. 7581641 c.5218G>A p.E1740K missense 0.00123848●●●●●●
20. 7580346 c.3923G>A p.R1308Q missense 0.00121158●●●●●●
21. 7576619 c.2723G>A p.R908H missense 0.00112050●●●●●●
22. 7542305 c.157T>G p.S53A missense 0.00102204●●●●●●
23. 7585411 c.7916G>A p.R2639Q missense 0.00097805●●●●●●
24. 7580564 c.4141A>T p.T1381S missense 0.00088503●●●●●●
25. 7581601 c.5178C>A p.N1726K missense 0.00086014●●●●●●
26. 7584376 c.6881C>G p.A2294G missense 0.00084835●●●●●●
27. 7556049 c.269A>G p.Q90R missense 0.00067680●●●●●●
28. 7575687 c.2596C>T p.R866C missense 0.00060960●●●●●●
29. 7584150 c.6655G>A p.V2219I missense 0.00057663●●●●●●
30. 7571692 c.1778A>G p.N593S missense 0.00051122●●●●●●
31. 7583088 c.5593A>T p.N1865Y missense 0.00051073●●●●●●
32. 7580073 c.3650C>T p.T1217M missense 0.00047279●●●●●●
33. 7576669 c.2773C>T p.R925W missense 0.00046996●●●●●●
34. 7562975 c.688G>A p.D230N missense 0.00039537●●●●●●
35. 7575014 c.2422C>T p.R808C missense 0.00037071●●●●●●
36. 7580912 c.4489C>T p.R1497W missense 0.00034944●●●●●●
37. 7584294 c.6799A>T p.T2267S missense 0.00033780●●●●●●
38. 7580285 c.3862A>C p.K1288Q missense 0.00033219●●●●●●
39. 7585962 c.8467C>G p.P2823A missense 0.00033131●●●●●●
40. 7581173 c.4750G>A p.A1584T missense 0.00030170●●●●●●
41. 7583049 c.5554C>T p.R1852C missense 0.00028829●●●●●●
42. 7583791 c.6296C>T p.P2099L missense 0.00026453●●●●●●
43. 7583790 c.6295C>A p.P2099T missense 0.00026452●●●●●●
44. 7583050 c.5555G>A p.R1852H missense 0.00023887●●●●●●
45. 7576670 c.2774G>A p.R925Q missense 0.00023086●●●●●●
46. 7581164 c.4741A>G p.K1581E missense 0.00022597●●●●●●
47. 7581590 c.5167G>C p.E1723Q missense 0.00021517●●●●●●
48. 7576661 c.2765C>T p.T922I missense 0.00021431●●●●●●
49. 7581596 c.5173C>T p.R1725W missense 0.00019855●●●●●●
50. 7576580 c.2684A>G p.Y895C missense 0.00019774●●●●●●
51. 7576618 c.2722C>T p.R908C missense 0.00018950●●●●●●
52. 7581198 c.4775A>G p.K1592R missense 0.00018482●●●●●●
53. 7570791 c.1696G>A p.A566T missense 0.00018126●●●●●●
54. 7581366 c.4943A>G p.Q1648R missense 0.00016691●●●●●●
55. 7580949 c.4526G>A p.R1509K missense 0.00016648●●●●●●
56. 7580069 c.3646A>G p.I1216V missense 0.00016590●●●●●●
57. 7583239 c.5744G>A p.R1915H missense 0.00016535●●●●●●
58. 7565596 c.782C>T p.A261V missense 0.00014848●●●●●●
59. 7568027 c.1154C>T p.A385V missense 0.00014843●●●●●●
60. 7585481 c.7986C>A p.H2662Q missense 0.00014088●●●●●●
61. 7585378 c.7883T>C p.L2628P missense 0.00013270●●●●●●
62. 7569482 c.1483G>A p.V495M missense 0.00013178●●●●●●
63. 7542195 c.47G>A p.R16H missense 0.00012784●●●●●●
64. 7556022 c.242G>A p.C81Y missense 0.00012463●●●●●●
65. 7579720 c.3297G>C p.K1099N missense 0.00011626●●●●●●
66. 7580345 c.3922C>T p.R1308W missense 0.00011618●●●●●●
67. 7583802 c.6307A>G p.K2103E missense 0.00011569●●●●●●
68. 7577264 c.2866A>T p.N956Y missense 0.00011232●●●●●●
69. 7575637 c.2546A>G p.Y849C missense 0.00010708●●●●●●
70. 7580913 c.4490G>A p.R1497Q missense 0.00009986●●●●●●
71. 7583814 c.6319G>C p.V2107L missense 0.00009914●●●●●●
72. 7576579 c.2683T>C p.Y895H missense 0.00009887●●●●●●
73. 7580039 c.3616T>A p.L1206I missense 0.00009158●●●●●●
74. 7580259 c.3836C>T p.A1279V missense 0.00009142●●●●●●
75. 7580124 c.3701A>G p.N1234S missense 0.00009136●●●●●●
76. 7580540 c.4117A>G p.T1373A missense 0.00009109●●●●●●
77. 7581324 c.4901G>A p.R1634Q missense 0.00008416●●●●●●
78. 7581747 c.5324G>T p.R1775I missense 0.00008338●●●●●●
79. 7579698 c.3275C>T p.S1092L missense 0.00008302●●●●●●
80. 7580441 c.4018C>T p.R1340C missense 0.00008295●●●●●●
81. 7574476 c.2288A>G p.Y763C missense 0.00008269●●●●●●
82. 7580598 c.4175G>A p.R1392Q missense 0.00008266●●●●●●
83. 7583946 c.6451C>T p.R2151W missense 0.00008262●●●●●●
84. 7581645 c.5222C>T p.A1741V missense 0.00008256●●●●●●
85. 7565703 c.889G>A p.D297N missense 0.00008240●●●●●●
86. 7583112 c.5617C>T p.R1873C missense 0.00008239●●●●●●
87. 7574952 c.2360A>G p.Y787C missense 0.00008236●●●●●●
88. 7577197 c.2799G>C p.L933F missense 0.00007513●●●●●●
89. 7580937 c.4514C>T p.A1505V missense 0.00007491●●●●●●
90. 7580129 c.3706A>G p.R1236G missense 0.00007478●●●●●●
91. 7580445 c.4022G>A p.R1341H missense 0.00007466●●●●●●
92. 7566613 c.943C>T p.R315C missense 0.00007456●●●●●●
93. 7582881 c.5386A>G p.N1796D missense 0.00007438●●●●●●
94. 7583840 c.6345G>T p.L2115F missense 0.00007437●●●●●●
95. 7581644 c.5221G>A p.A1741T missense 0.00007431●●●●●●
96. 7578716 c.3005G>A p.R1002Q missense 0.00007418●●●●●●
97. 7567645 c.1103T>C p.I368T missense 0.00007413●●●●●●
98. 7581309 c.4886G>T p.S1629I missense 0.00006747●●●●●●
99. 7579985 c.3562T>C p.Y1188H missense 0.00006715●●●●●●
100. 7581338 c.4915G>A p.V1639M missense 0.00006704●●●●●●
101. 7581419 c.4996C>T p.R1666W missense 0.00006658●●●●●●
102. 7580808 c.4385G>T p.S1462I missense 0.00006626●●●●●●
103. 7582993 c.5498A>G p.E1833G missense 0.00006610●●●●●●
104. 7576562 c.2666G>A p.R889K missense 0.00006591●●●●●●
105. 7562930 c.643G>A p.E215K missense 0.00006589●●●●●●
106. 7542186 c.38C>T p.T13I missense 0.00006508●●●●●●
107. 7542203 c.55C>T p.R19C missense 0.00006007●●●●●●
108. 7581786 c.5363A>G p.Q1788R missense 0.00005925●●●●●●
109. 7579974 c.3551G>A p.R1184Q missense 0.00005887●●●●●●
110. 7579569 c.3146C>T p.S1049L missense 0.00005836●●●●●●
111. 7580981 c.4558A>G p.S1520G missense 0.00005826●●●●●●
112. 7581485 c.5062G>A p.A1688T missense 0.00005822●●●●●●
113. 7580379 c.3956C>G p.T1319S missense 0.00005810●●●●●●
114. 7580796 c.4373G>A p.R1458Q missense 0.00005793●●●●●●
115. 7584213 c.6718C>G p.Q2240E missense 0.00005772●●●●●●
116. 7574382 c.2194A>G p.N732D missense 0.00005769●●●●●●
117. 7583008 c.5513G>A p.R1838H missense 0.00005767●●●●●●
118. 7575559 c.2468C>T p.S823L missense 0.00005766●●●●●●
119. 7558419 c.344A>G p.N115S missense 0.00005766●●●●●●
120. 7584060 c.6565C>T p.R2189W missense 0.00005766●●●●●●
121. 7574937 c.2345A>G p.D782G missense 0.00005765●●●●●●
122. 7569500 c.1501G>A p.V501I missense 0.00005765●●●●●●
123. 7559557 c.521G>T p.C174F missense 0.00005765●●●●●●
124. 7542194 c.46C>A p.R16S missense 0.00005609●●●●●●
125. 7586002 c.8507G>A p.G2836E missense 0.00005016●●●●●●
126. 7580981 c.4558A>T p.S1520C missense 0.00004994●●●●●●
127. 7579761 c.3338G>A p.R1113Q missense 0.00004991●●●●●●
128. 7580494 c.4071G>C p.E1357D missense 0.00004975●●●●●●
129. 7585312 c.7817G>A p.S2606N missense 0.00004957●●●●●●
130. 7585668 c.8173C>T p.R2725C missense 0.00004948●●●●●●
131. 7572189 c.2018A>C p.Q673P missense 0.00004945●●●●●●
132. 7565730 c.916G>A p.A306T missense 0.00004944●●●●●●
133. 7576540 c.2644G>A p.E882K missense 0.00004944●●●●●●
134. 7562954 c.667G>A p.G223S missense 0.00004942●●●●●●
135. 7542305 c.157T>C p.S53P missense 0.00004444●●●●●●
136. 7577261 c.2863G>A p.A955T missense 0.00004280●●●●●●
137. 7579557 c.3134G>A p.R1045Q missense 0.00004176●●●●●●
138. 7579748 c.3325G>A p.E1109K missense 0.00004157●●●●●●
139. 7579727 c.3304G>A p.G1102S missense 0.00004154●●●●●●
140. 7583742 c.6247C>T p.R2083C missense 0.00004146●●●●●●
141. 7585410 c.7915C>T p.R2639W missense 0.00004146●●●●●●
142. 7585459 c.7964C>G p.A2655G missense 0.00004145●●●●●●
143. 7583289 c.5794C>T p.R1932C missense 0.00004139●●●●●●
144. 7584859 c.7364C>T p.T2455I missense 0.00004132●●●●●●
145. 7583911 c.6416A>G p.N2139S missense 0.00004132●●●●●●
146. 7583974 c.6479G>A p.R2160Q missense 0.00004126●●●●●●
147. 7568821 c.1418A>G p.Q473R missense 0.00004124●●●●●●
148. 7585612 c.8117A>T p.K2706M missense 0.00004123●●●●●●
149. 7575713 c.2622C>G p.I874M missense 0.00004121●●●●●●
150. 7578715 c.3004C>T p.R1002W missense 0.00004121●●●●●●
151. 7572208 c.2037A>G p.I679M missense 0.00004120●●●●●●
152. 7583113 c.5618G>A p.R1873H missense 0.00004120●●●●●●
153. 7583017 c.5522C>T p.S1841L missense 0.00004119●●●●●●
154. 7585201 c.7706C>T p.T2569I missense 0.00004119●●●●●●
155. 7578093 c.2959T>A p.S987T missense 0.00004119●●●●●●
156. 7569425 c.1426G>A p.V476M missense 0.00004119●●●●●●
157. 7584184 c.6689C>T p.P2230L missense 0.00004119●●●●●●
158. 7558389 c.314G>A p.R105Q missense 0.00004118●●●●●●
159. 7569467 c.1468C>T p.R490C missense 0.00004118●●●●●●
160. 7585084 c.7589T>C p.I2530T missense 0.00004118●●●●●●
161. 7575660 c.2569G>A p.G857S missense 0.00004118●●●●●●
162. 7569468 c.1469G>A p.R490H missense 0.00004118●●●●●●
163. 7569533 c.1534A>G p.I512V missense 0.00004118●●●●●●
164. 7558375 c.300A>T p.Q100H missense 0.00004118●●●●●●
165. 7542294 c.146C>T p.T49I missense 0.00004074●●●●●●
166. 7542285 c.137G>A p.G46D missense 0.00003814●●●●●●
167. 7542284 c.136G>A p.G46S missense 0.00003796●●●●●●
168. 7542227 c.79C>T p.R27C missense 0.00003739●●●●●●
169. 7542279 c.131G>C p.R44P missense 0.00003694●●●●●●
170. 7579953 c.3530T>A p.L1177Q missense 0.00003359●●●●●●
171. 7581096 c.4673G>A p.R1558Q missense 0.00003336●●●●●●
172. 7581033 c.4610G>A p.R1537H missense 0.00003331●●●●●●
173. 7580988 c.4565C>T p.T1522M missense 0.00003330●●●●●●
174. 7580183 c.3760G>A p.V1254I missense 0.00003329●●●●●●
175. 7581420 c.4997G>A p.R1666Q missense 0.00003329●●●●●●
176. 7580187 c.3764G>A p.R1255K missense 0.00003329●●●●●●
177. 7580300 c.3877A>G p.I1293V missense 0.00003321●●●●●●
178. 7583728 c.6233T>C p.I2078T missense 0.00003321●●●●●●
179. 7580442 c.4019G>A p.R1340H missense 0.00003318●●●●●●
180. 7580837 c.4414G>T p.A1472S missense 0.00003318●●●●●●
181. 7585347 c.7852C>T p.P2618S missense 0.00003312●●●●●●
182. 7566704 c.1034A>G p.D345G missense 0.00003311●●●●●●
183. 7583376 c.5881G>A p.V1961I missense 0.00003309●●●●●●
184. 7585537 c.8042A>C p.D2681A missense 0.00003308●●●●●●
185. 7581606 c.5183G>A p.R1728K missense 0.00003307●●●●●●
186. 7583892 c.6397G>A p.G2133S missense 0.00003306●●●●●●
187. 7572120 c.1949A>G p.N650S missense 0.00003306●●●●●●
188. 7580656 c.4233G>C p.R1411S missense 0.00003306●●●●●●
189. 7583959 c.6464A>G p.D2155G missense 0.00003302●●●●●●
190. 7585804 c.8309A>G p.Y2770C missense 0.00003301●●●●●●
191. 7585728 c.8233A>G p.I2745V missense 0.00003301●●●●●●
192. 7584260 c.6765G>T p.Q2255H missense 0.00003301●●●●●●
193. 7585885 c.8390T>C p.I2797T missense 0.00003299●●●●●●
194. 7585667 c.8172G>T p.Q2724H missense 0.00003299●●●●●●
195. 7571754 c.1840G>A p.D614N missense 0.00003298●●●●●●
196. 7576667 c.2771T>C p.M924T missense 0.00003298●●●●●●
197. 7571731 c.1817G>A p.R606Q missense 0.00003298●●●●●●
198. 7585869 c.8374T>A p.S2792T missense 0.00003298●●●●●●
199. 7582909 c.5414G>A p.C1805Y missense 0.00003297●●●●●●
200. 7582907 c.5412G>T p.Q1804H missense 0.00003297●●●●●●
201. 7576571 c.2675G>A p.R892H missense 0.00003296●●●●●●
202. 7584528 c.7033G>C p.G2345R missense 0.00003296●●●●●●
203. 7576631 c.2735T>C p.L912S missense 0.00003296●●●●●●
204. 7584061 c.6566G>A p.R2189Q missense 0.00003295●●●●●●
205. 7570725 c.1630A>C p.M544L missense 0.00003295●●●●●●
206. 7575631 c.2540C>G p.P847R missense 0.00003295●●●●●●
207. 7563982 c.740C>T p.A247V missense 0.00003295●●●●●●
208. 7558415 c.340G>A p.A114T missense 0.00003295●●●●●●
209. 7575643 c.2552T>A p.L851Q missense 0.00003295●●●●●●
210. 7542209 c.61G>A p.E21K missense 0.00003129●●●●●●
211. 7542263 c.115A>G p.R39G missense 0.00003020●●●●●●
212. 7542255 c.107G>T p.G36V missense 0.00002863●●●●●●
213. 7542255 c.107G>C p.G36A missense 0.00002863●●●●●●
214. 7542252 c.104G>C p.G35A missense 0.00002714●●●●●●
215. 7556039 c.259C>G p.L87V missense 0.00002558●●●●●●
216. 7586085 c.8590T>C p.F2864L missense 0.00002525●●●●●●
217. 7580023 c.3600T>G p.N1200K missense 0.00002506●●●●●●
218. 7585977 c.8482G>A p.G2828S missense 0.00002503●●●●●●
219. 7581119 c.4696C>G p.L1566V missense 0.00002503●●●●●●
220. 7581089 c.4666A>G p.I1556V missense 0.00002501●●●●●●
221. 7581080 c.4657G>A p.D1553N missense 0.00002500●●●●●●
222. 7580197 c.3774C>A p.D1258E missense 0.00002497●●●●●●
223. 7579590 c.3167A>G p.K1056R missense 0.00002497●●●●●●
224. 7581414 c.4991T>G p.L1664R missense 0.00002497●●●●●●
225. 7579811 c.3388G>A p.D1130N missense 0.00002497●●●●●●
226. 7580223 c.3800G>A p.R1267Q missense 0.00002496●●●●●●
227. 7580189 c.3766C>T p.L1256F missense 0.00002496●●●●●●
228. 7580894 c.4471G>A p.D1491N missense 0.00002495●●●●●●
229. 7581486 c.5063C>T p.A1688V missense 0.00002495●●●●●●
230. 7579746 c.3323A>G p.N1108S missense 0.00002494●●●●●●
231. 7583718 c.6223C>T p.R2075W missense 0.00002494●●●●●●
232. 7579649 c.3226C>T p.L1076F missense 0.00002491●●●●●●
233. 7580328 c.3905G>A p.R1302H missense 0.00002490●●●●●●
234. 7580418 c.3995C>T p.A1332V missense 0.00002488●●●●●●
235. 7585489 c.7994C>T p.T2665M missense 0.00002486●●●●●●
236. 7580525 c.4102A>G p.T1368A missense 0.00002486●●●●●●
237. 7566614 c.944G>T p.R315L missense 0.00002485●●●●●●
238. 7566616 c.946A>G p.M316V missense 0.00002484●●●●●●
239. 7583550 c.6055G>T p.A2019S missense 0.00002484●●●●●●
240. 7583290 c.5795G>A p.R1932H missense 0.00002483●●●●●●
241. 7585539 c.8044C>G p.Q2682E missense 0.00002481●●●●●●
242. 7568095 c.1222A>C p.N408H missense 0.00002480●●●●●●
243. 7566631 c.961G>C p.V321L missense 0.00002480●●●●●●
244. 7559460 c.424C>T p.L142F missense 0.00002477●●●●●●
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737. 7576594 c.2698A>G p.K900E missense 0.00000824●●●●●●
738. 7584648 c.7153C>T p.R2385C missense 0.00000824●●●●●●
739. 7574996 c.2404G>A p.D802N missense 0.00000824●●●●●●
740. 7559608 c.572G>A p.C191Y missense 0.00000824●●●●●●
741. 7584456 c.6961G>A p.V2321M missense 0.00000824●●●●●●
742. 7567631 c.1089G>C p.Q363H missense 0.00000824●●●●●●
743. 7559527 c.491C>T p.A164V missense 0.00000824●●●●●●
744. 7583089 c.5594A>G p.N1865S missense 0.00000824●●●●●●
745. 7585858 c.8363C>T p.A2788V missense 0.00000824●●●●●●
746. 7585225 c.7730T>C p.V2577A missense 0.00000824●●●●●●
747. 7575015 c.2423G>A p.R808H missense 0.00000824●●●●●●
748. 7576640 c.2744T>A p.M915K missense 0.00000824●●●●●●
749. 7574359 c.2171A>C p.N724T missense 0.00000824●●●●●●
750. 7585216 c.7721G>A p.G2574D missense 0.00000824●●●●●●
751. 7585102 c.7607A>T p.K2536M missense 0.00000824●●●●●●
752. 7576624 c.2728G>T p.D910Y missense 0.00000824●●●●●●
753. 7569521 c.1522G>A p.V508M missense 0.00000824●●●●●●
754. 7584102 c.6607G>C p.V2203L missense 0.00000824●●●●●●
755. 7585002 c.7507T>A p.W2503R missense 0.00000824●●●●●●
756. 7585029 c.7534G>T p.D2512Y missense 0.00000824●●●●●●
757. 7565712 c.898G>A p.D300N missense 0.00000824●●●●●●
758. 7584021 c.6526G>T p.V2176F missense 0.00000824●●●●●●
759. 7565636 c.822C>G p.N274K missense 0.00000824●●●●●●
760. 7558379 c.304A>C p.T102P missense 0.00000824●●●●●●
761. 7568679 c.1276G>A p.E426K missense 0.00000824●●●●●●
762. 7562952 c.665G>C p.R222P missense 0.00000824●●●●●●
763. 7559622 c.586A>G p.R196G missense 0.00000824●●●●●●
764. 7575657 c.2566T>C p.F856L missense 0.00000824●●●●●●
765. 7562973 c.686G>A p.G229D missense 0.00000824●●●●●●
766. 7559557 c.521G>A p.C174Y missense 0.00000824●●●●●●
767. 7578066 c.2932A>G p.I978V missense 0.00000824●●●●●●
768. 7574960 c.2368A>G p.R790G missense 0.00000824●●●●●●
769. 7562972 c.685G>A p.G229S missense 0.00000824●●●●●●
770. 7585174 c.7679T>C p.M2560T missense 0.00000824●●●●●●
771. 7570766 c.1671A>G p.I557M missense 0.00000824●●●●●●
772. 7585036 c.7541C>T p.S2514F missense 0.00000824●●●●●●
773. 7582980 c.5485C>G p.L1829V missense 0.00000824●●●●●●
774. 7570698 c.1603G>T p.A535S missense 0.00000824●●●●●●
775. 7559502 c.466A>G p.I156V missense 0.00000824●●●●●●
776. 7585233 c.7738G>T p.D2580Y missense 0.00000824●●●●●●
777. 7582908 c.5413T>G p.C1805G missense 0.00000824●●●●●●
778. 7576604 c.2708A>G p.Y903C missense 0.00000824●●●●●●
779. 7569498 c.1499G>A p.G500D missense 0.00000824●●●●●●
780. 7584085 c.6590G>A p.G2197D missense 0.00000824●●●●●●
781. 7558439 c.364G>A p.D122N missense 0.00000824●●●●●●
782. 7572173 c.2002A>G p.M668V missense 0.00000824●●●●●●
783. 7562981 c.694C>T p.R232C missense 0.00000824●●●●●●
784. 7558366 c.291T>G p.D97E missense 0.00000824●●●●●●
785. 7575541 c.2450A>T p.D817V missense 0.00000824●●●●●●
786. 7574919 c.2327C>G p.A776G missense 0.00000824●●●●●●
787. 7584960 c.7465G>A p.D2489N missense 0.00000824●●●●●●
788. 7578770 c.3059T>C p.M1020T missense 0.00000824●●●●●●
789. 7575675 c.2584C>A p.Q862K missense 0.00000824●●●●●●
790. 7572184 c.2013G>C p.E671D missense 0.00000824●●●●●●
791. 7568765 c.1362C>A p.D454E missense 0.00000824●●●●●●
792. 7578100 c.2966C>T p.S989F missense 0.00000824●●●●●●
793. 7575616 c.2525C>G p.T842S missense 0.00000824●●●●●●
794. 7584655 c.7160C>T p.P2387L missense 0.00000824●●●●●●
795. 7559611 c.575T>C p.L192S missense 0.00000824●●●●●●
796. 7574906 c.2314G>A p.A772T missense 0.00000824●●●●●●
797. 7585229 c.7734C>G p.S2578R missense 0.00000824●●●●●●
798. 7565674 c.860A>G p.N287S missense 0.00000824●●●●●●
799. 7584479 c.6984G>T p.K2328N missense 0.00000824●●●●●●
800. 7567636 c.1094C>T p.T365I missense 0.00000824●●●●●●
801. 7559539 c.503G>C p.G168A missense 0.00000824●●●●●●
802. 7583093 c.5598G>C p.Q1866H missense 0.00000824●●●●●●
803. 7585864 c.8369A>G p.N2790S missense 0.00000824●●●●●●
804. 7585245 c.7750A>G p.S2584G missense 0.00000824●●●●●●
805. 7574341 c.2153C>T p.A718V missense 0.00000824●●●●●●
806. 7569539 c.1540C>T p.P514S missense 0.00000824●●●●●●
807. 7559481 c.445A>T p.M149L missense 0.00000824●●●●●●
808. 7584067 c.6572G>A p.R2191K missense 0.00000824●●●●●●
809. 7576642 c.2746A>G p.K916E missense 0.00000824●●●●●●
810. 7585110 c.7615G>A p.V2539I missense 0.00000824●●●●●●
811. 7565664 c.850A>G p.M284V missense 0.00000824●●●●●●
812. 7583106 c.5611T>G p.Y1871D missense 0.00000824●●●●●●
813. 7576574 c.2678A>C p.D893A missense 0.00000824●●●●●●
814. 7572213 c.2042A>G p.H681R missense 0.00000824●●●●●●
815. 7585033 c.7538G>A p.G2513D missense 0.00000824●●●●●●
816. 7584059 c.6564A>C p.E2188D missense 0.00000824●●●●●●
817. 7565725 c.911A>T p.N304I missense 0.00000824●●●●●●
818. 7558409 c.334G>T p.A112S missense 0.00000824●●●●●●
819. 7578716 c.3005G>C p.R1002P missense 0.00000824●●●●●●
820. 7565627 c.813G>T p.Q271H missense 0.00000824●●●●●●
821. 7575634 c.2543T>C p.L848P missense 0.00000824●●●●●●
822. 7568686 c.1283T>A p.I428N missense 0.00000824●●●●●●
823. 7562957 c.670A>G p.I224V missense 0.00000824●●●●●●
824. 7562912 c.625G>A p.V209M missense 0.00000824●●●●●●
825. 7572254 c.2083G>C p.D695H missense 0.00000824●●●●●●
826. 7574969 c.2377G>A p.E793K missense 0.00000824●●●●●●
827. 7559590 c.554A>G p.K185R missense 0.00000824●●●●●●
828. 7568689 c.1286T>C p.L429P missense 0.00000824●●●●●●
829. 7584562 c.7067A>C p.K2356T missense 0.00000824●●●●●●
830. 7585628 c.8133G>T p.E2711D missense 0.00000824●●●●●●
831. 7565655 c.841A>G p.R281G missense 0.00000824●●●●●●
832. 7584448 c.6953G>C p.R2318T missense 0.00000824●●●●●●
833. 7584282 c.6787A>G p.I2263V missense 0.00000824●●●●●●
834. 7576628 c.2732C>T p.S911F missense 0.00000824●●●●●●
835. 7585087 c.7592A>C p.Q2531P missense 0.00000824●●●●●●
836. 7584125 c.6630C>A p.F2210L missense 0.00000824●●●●●●
837. 7576615 c.2719C>T p.R907C missense 0.00000824●●●●●●
838. 7569503 c.1504G>A p.D502N missense 0.00000824●●●●●●
839. 7584087 c.6592C>G p.L2198V missense 0.00000824●●●●●●
840. 7568781 c.1378C>G p.P460A missense 0.00000824●●●●●●
841. 7583992 c.6497G>A p.R2166Q missense 0.00000824●●●●●●
842. 7562982 c.695G>A p.R232H missense 0.00000824●●●●●●
843. 7558374 c.299A>T p.Q100L missense 0.00000824●●●●●●
844. 7575700 c.2609T>C p.I870T missense 0.00000824●●●●●●
845. 7584963 c.7468T>C p.Y2490H missense 0.00000824●●●●●●
846. 7578778 c.3067A>C p.S1023R missense 0.00000824●●●●●●
847. 7575688 c.2597G>A p.R866H missense 0.00000824●●●●●●
848. 7559614 c.578G>C p.G193A missense 0.00000824●●●●●●
849. 7578111 c.2977C>G p.L993V missense 0.00000824●●●●●●
850. 7575628 c.2537A>G p.Y846C missense 0.00000824●●●●●●
851. 7584672 c.7177A>C p.K2393Q missense 0.00000824●●●●●●
852. 7585867 c.8372G>A p.R2791H missense 0.00000824●●●●●●
853. 7585255 c.7760A>G p.H2587R missense 0.00000824●●●●●●
854. 7574907 c.2315C>A p.A772E missense 0.00000824●●●●●●
855. 7584484 c.6989T>G p.L2330R missense 0.00000824●●●●●●
856. 7567648 c.1106A>T p.D369V missense 0.00000824●●●●●●
857. 7583104 c.5609A>G p.Q1870R missense 0.00000824●●●●●●
858. 7570726 c.1631T>C p.M544T missense 0.00000824●●●●●●
859. 7584006 c.6511A>G p.N2171D missense 0.00000824●●●●●●
860. 7574344 c.2156T>C p.I719T missense 0.00000824●●●●●●
861. 7585143 c.7648G>A p.G2550S missense 0.00000824●●●●●●
862. 7576659 c.2763C>G p.N921K missense 0.00000824●●●●●●
863. 7574374 c.2186T>G p.M729R missense 0.00000824●●●●●●
864. 7565727 c.913A>G p.I305V missense 0.00000824●●●●●●
865. 7558383 c.308G>A p.R103Q missense 0.00000824●●●●●●
866. 7576580 c.2684A>C p.Y895S missense 0.00000824●●●●●●
867. 7585039 c.7544C>G p.T2515S missense 0.00000824●●●●●●
868. 7569425 c.1426G>T p.V476L missense 0.00000824●●●●●●
869. 7574383 c.2195A>C p.N732T missense 0.00000824●●●●●●
870. 7578749 c.3038A>G p.Y1013C missense 0.00000824●●●●●●
871. 7572174 c.2003T>C p.M668T missense 0.00000824●●●●●●
872. 7572167 c.1996A>G p.T666A missense 0.00000824●●●●●●
873. 7568691 c.1288G>A p.E430K missense 0.00000824●●●●●●
874. 7562972 c.685G>T p.G229C missense 0.00000824●●●●●●
875. 7562927 c.640G>A p.V214M missense 0.00000824●●●●●●
876. 7559601 c.565A>G p.S189G missense 0.00000824●●●●●●
877. 7559576 c.540G>C p.W180C missense 0.00000824●●●●●●
878. 7575547 c.2456A>G p.N819S missense 0.00000824●●●●●●
879. 7559521 c.485G>T p.R162L missense 0.00000824●●●●●●
880. 7583081 c.5586T>G p.N1862K missense 0.00000824●●●●●●
881. 7569562 c.1563C>A p.D521E missense 0.00000824●●●●●●
882. 7565714 c.900C>A p.D300E missense 0.00000824●●●●●●
883. 7585222 c.7727G>T p.G2576V missense 0.00000824●●●●●●
884. 7584451 c.6956G>A p.G2319D missense 0.00000824●●●●●●
885. 7574410 c.2222A>G p.Y741C missense 0.00000824●●●●●●
886. 7570780 c.1685C>T p.A562V missense 0.00000824●●●●●●
887. 7567609 c.1067C>T p.T356M missense 0.00000824●●●●●●
888. 7585627 c.8132A>G p.E2711G missense 0.00000824●●●●●●
889. 7585096 c.7601T>C p.I2534T missense 0.00000824●●●●●●
890. 7576619 c.2723G>T p.R908L missense 0.00000824●●●●●●
891. 7569508 c.1509G>T p.M503I missense 0.00000824●●●●●●
892. 7584096 c.6601C>T p.L2201F missense 0.00000824●●●●●●
893. 7584996 c.7501T>C p.C2501R missense 0.00000824●●●●●●
894. 7584042 c.6547T>G p.Y2183D missense 0.00000824●●●●●●
895. 7575698 c.2607G>C p.R869S missense 0.00000824●●●●●●
896. 7572194 c.2023A>T p.I675F missense 0.00000824●●●●●●
897. 7568782 c.1379C>T p.P460L missense 0.00000824●●●●●●
898. 7584021 c.6526G>C p.V2176L missense 0.00000824●●●●●●
899. 7563970 c.728G>A p.R243H missense 0.00000824●●●●●●
900. 7576570 c.2674C>T p.R892C missense 0.00000824●●●●●●
901. 7575714 c.2623G>A p.D875N missense 0.00000824●●●●●●
902. 7578710 c.2999A>G p.H1000R missense 0.00000824●●●●●●
903. 7578116 c.2982A>C p.Q994H missense 0.00000824●●●●●●
904. 7575631 c.2540C>T p.P847L missense 0.00000824●●●●●●
905. 7578021 c.2887C>T p.L963F missense 0.00000824●●●●●●
906. 7584536 c.7041C>G p.I2347M missense 0.00000824●●●●●●
907. 7574921 c.2329A>G p.I777V missense 0.00000824●●●●●●
908. 7584526 c.7031C>G p.T2344R missense 0.00000824●●●●●●
909. 7567677 c.1135T>A p.F379I missense 0.00000824●●●●●●
910. 7559554 c.518C>T p.T173I missense 0.00000824●●●●●●
911. 7585159 c.7664C>T p.T2555I missense 0.00000824●●●●●●
912. 7574379 c.2191G>A p.A731T missense 0.00000824●●●●●●
913. 7570758 c.1663A>T p.I555F missense 0.00000824●●●●●●
914. 7584079 c.6584A>G p.H2195R missense 0.00000824●●●●●●
915. 7585125 c.7630T>G p.F2544V missense 0.00000824●●●●●●
916. 7582974 c.5479G>A p.A1827T missense 0.00000824●●●●●●
917. 7559502 c.466A>C p.I156L missense 0.00000824●●●●●●
918. 7585252 c.7757G>A p.R2586Q missense 0.00000824●●●●●●

* 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.