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. 7576527 c.2631G>A p.R877R splice site 0.77179183●●●●●●
2. 7581636 c.5213G>A p.R1738Q missense 0.17240810●●●●●●
3. 7580958 c.4535A>G p.Y1512C missense 0.11560290●●●●●●
4. 7565727 c.913A>T p.I305F missense 0.02992749●●●●●●
5. 7556063 c.273+10C>T splice site 0.02513941●●●●●●
6. 7581001 c.4578C>A p.N1526K missense 0.01351531●●●●●●
7. 7569480 c.1481A>T p.Y494F missense 0.01176238●●●●●●
8. 7582993 c.5498A>T p.E1833V missense 0.00946015●●●●●●
9. 7581032 c.4609C>T p.R1537C missense 0.00913512●●●●●●
10. 7571824 c.1903+7T>C splice site 0.00703713●●●●●●
11. 7542160 c.12C>G p.N4K missense 0.00497197●●●●●●
12. 7583703 c.6208G>A p.D2070N missense 0.00391873●●●●●●
13. 7577213 c.2815G>A p.G939S missense 0.00368648●●●●●●
14. 7542236 c.88G>A p.V30M missense 0.00310766●●●●●●
15. 7585686 c.8191T>C p.Y2731H missense 0.00280477●●●●●●
16. 7586100 c.8605A>G p.I2869V missense 0.00216078●●●●●●
17. 7585795 c.8300C>A p.T2767N missense 0.00212116●●●●●●
18. 7580878 c.4455G>T p.R1485S missense 0.00175366●●●●●●
19. 7580795 c.4372C>G p.R1458G missense 0.00173703●●●●●●
20. 7585950 c.8455A>C p.M2819L missense 0.00171989●●●●●●
21. 7581011 c.4588G>T p.V1530F missense 0.00133205●●●●●●
22. 7581641 c.5218G>A p.E1740K missense 0.00123848●●●●●●
23. 7580346 c.3923G>A p.R1308Q missense 0.00121158●●●●●●
24. 7576619 c.2723G>A p.R908H missense 0.00112050●●●●●●
25. 7542305 c.157T>G p.S53A missense 0.00102204●●●●●●
26. 7585411 c.7916G>A p.R2639Q missense 0.00097805●●●●●●
27. 7580564 c.4141A>T p.T1381S missense 0.00088503●●●●●●
28. 7581601 c.5178C>A p.N1726K missense 0.00086014●●●●●●
29. 7584376 c.6881C>G p.A2294G missense 0.00084835●●●●●●
30. 7556049 c.269A>G p.Q90R missense 0.00067680●●●●●●
31. 7575687 c.2596C>T p.R866C missense 0.00060960●●●●●●
32. 7568145 c.1266+6G>T splice site 0.00059123●●●●●●
33. 7584150 c.6655G>A p.V2219I missense 0.00057663●●●●●●
34. 7585605 c.8110_8112delAAG p.Lys2706del inframe 0.00051142●●●●●●
35. 7571692 c.1778A>G p.N593S missense 0.00051122●●●●●●
36. 7583088 c.5593A>T p.N1865Y missense 0.00051073●●●●●●
37. 7580073 c.3650C>T p.T1217M missense 0.00047279●●●●●●
38. 7576669 c.2773C>T p.R925W missense 0.00046996●●●●●●
39. 7586022 c.8527_8538delAGTGGGTCCCGG p.Ser2843_Arg2846del inframe 0.00041825●●●●●●
40. 7562975 c.688G>A p.D230N missense 0.00039537●●●●●●
41. 7575014 c.2422C>T p.R808C missense 0.00037071●●●●●●
42. 7578691 c.2986-6T>A splice site 0.00035525●●●●●●
43. 7556058 c.273+5G>A splice site 0.00035156●●●●●●
44. 7580912 c.4489C>T p.R1497W missense 0.00034944●●●●●●
45. 7584294 c.6799A>T p.T2267S missense 0.00033780●●●●●●
46. 7580285 c.3862A>C p.K1288Q missense 0.00033219●●●●●●
47. 7585962 c.8467C>G p.P2823A missense 0.00033131●●●●●●
48. 7581173 c.4750G>A p.A1584T missense 0.00030170●●●●●●
49. 7583049 c.5554C>T p.R1852C missense 0.00028829●●●●●●
50. 7583791 c.6296C>T p.P2099L missense 0.00026453●●●●●●
51. 7583790 c.6295C>A p.P2099T missense 0.00026452●●●●●●
52. 7585989 c.8494_8505delGGATCTCGCTCC p.Gly2832_Ser2835del inframe 0.00024222●●●●●●
53. 7583050 c.5555G>A p.R1852H missense 0.00023887●●●●●●
54. 7576670 c.2774G>A p.R925Q missense 0.00023086●●●●●●
55. 7581164 c.4741A>G p.K1581E missense 0.00022597●●●●●●
56. 7581590 c.5167G>C p.E1723Q missense 0.00021517●●●●●●
57. 7576661 c.2765C>T p.T922I missense 0.00021431●●●●●●
58. 7581596 c.5173C>T p.R1725W missense 0.00019855●●●●●●
59. 7576580 c.2684A>G p.Y895C missense 0.00019774●●●●●●
60. 7576618 c.2722C>T p.R908C missense 0.00018950●●●●●●
61. 7581198 c.4775A>G p.K1592R missense 0.00018482●●●●●●
62. 7570791 c.1696G>A p.A566T missense 0.00018126●●●●●●
63. 7581366 c.4943A>G p.Q1648R missense 0.00016691●●●●●●
64. 7580949 c.4526G>A p.R1509K missense 0.00016648●●●●●●
65. 7580069 c.3646A>G p.I1216V missense 0.00016590●●●●●●
66. 7583239 c.5744G>A p.R1915H missense 0.00016535●●●●●●
67. 7565596 c.782C>T p.A261V missense 0.00014848●●●●●●
68. 7568027 c.1154C>T p.A385V missense 0.00014843●●●●●●
69. 7585481 c.7986C>A p.H2662Q missense 0.00014088●●●●●●
70. 7565753 c.939C>T splice site 0.00014011●●●●●●
71. 7563971 c.729C>T p.R243R splice site 0.00014005●●●●●●
72. 7585378 c.7883T>C p.L2628P missense 0.00013270●●●●●●
73. 7569482 c.1483G>A p.V495M missense 0.00013178●●●●●●
74. 7542195 c.47G>A p.R16H missense 0.00012784●●●●●●
75. 7556022 c.242G>A p.C81Y missense 0.00012463●●●●●●
76. 7579720 c.3297G>C p.K1099N missense 0.00011626●●●●●●
77. 7580345 c.3922C>T p.R1308W missense 0.00011618●●●●●●
78. 7583802 c.6307A>G p.K2103E missense 0.00011569●●●●●●
79. 7577264 c.2866A>T p.N956Y missense 0.00011232●●●●●●
80. 7563020 c.726+7G>C splice site 0.00010710●●●●●●
81. 7575637 c.2546A>G p.Y849C missense 0.00010708●●●●●●
82. 7577187 c.2794-5_2794-4insA splice site 0.00010119●●●●●●
83. 7580913 c.4490G>A p.R1497Q missense 0.00009986●●●●●●
84. 7583814 c.6319G>C p.V2107L missense 0.00009914●●●●●●
85. 7576579 c.2683T>C p.Y895H missense 0.00009887●●●●●●
86. 7580039 c.3616T>A p.L1206I missense 0.00009158●●●●●●
87. 7580259 c.3836C>T p.A1279V missense 0.00009142●●●●●●
88. 7580124 c.3701A>G p.N1234S missense 0.00009136●●●●●●
89. 7580540 c.4117A>G p.T1373A missense 0.00009109●●●●●●
90. 7567688 c.1140+6T>C splice site 0.00009071●●●●●●
91. 7581324 c.4901G>A p.R1634Q missense 0.00008416●●●●●●
92. 7581747 c.5324G>T p.R1775I missense 0.00008338●●●●●●
93. 7579698 c.3275C>T p.S1092L missense 0.00008302●●●●●●
94. 7580441 c.4018C>T p.R1340C missense 0.00008295●●●●●●
95. 7574476 c.2288A>G p.Y763C missense 0.00008269●●●●●●
96. 7580598 c.4175G>A p.R1392Q missense 0.00008266●●●●●●
97. 7583946 c.6451C>T p.R2151W missense 0.00008262●●●●●●
98. 7581645 c.5222C>T p.A1741V missense 0.00008256●●●●●●
99. 7565703 c.889G>A p.D297N missense 0.00008240●●●●●●
100. 7583112 c.5617C>T p.R1873C missense 0.00008239●●●●●●
101. 7574952 c.2360A>G p.Y787C missense 0.00008236●●●●●●
102. 7577197 c.2799G>C p.L933F missense 0.00007513●●●●●●
103. 7580937 c.4514C>T p.A1505V missense 0.00007491●●●●●●
104. 7580129 c.3706A>G p.R1236G missense 0.00007478●●●●●●
105. 7580445 c.4022G>A p.R1341H missense 0.00007466●●●●●●
106. 7566613 c.943C>T p.R315C missense 0.00007456●●●●●●
107. 7582881 c.5386A>G p.N1796D missense 0.00007438●●●●●●
108. 7583840 c.6345G>T p.L2115F missense 0.00007437●●●●●●
109. 7581644 c.5221G>A p.A1741T missense 0.00007431●●●●●●
110. 7578716 c.3005G>A p.R1002Q missense 0.00007418●●●●●●
111. 7567645 c.1103T>C p.I368T missense 0.00007413●●●●●●
112. 7581309 c.4886G>T p.S1629I missense 0.00006747●●●●●●
113. 7579985 c.3562T>C p.Y1188H missense 0.00006715●●●●●●
114. 7581338 c.4915G>A p.V1639M missense 0.00006704●●●●●●
115. 7568145 c.1266+6G>A splice site 0.00006662●●●●●●
116. 7581419 c.4996C>T p.R1666W missense 0.00006658●●●●●●
117. 7580808 c.4385G>T p.S1462I missense 0.00006626●●●●●●
118. 7582993 c.5498A>G p.E1833G missense 0.00006610●●●●●●
119. 7574314 c.2131-5G>C splice site 0.00006602●●●●●●
120. 7576562 c.2666G>A p.R889K missense 0.00006591●●●●●●
121. 7562930 c.643G>A p.E215K missense 0.00006589●●●●●●
122. 7542186 c.38C>T p.T13I missense 0.00006508●●●●●●
123. 7542203 c.55C>T p.R19C missense 0.00006007●●●●●●
124. 7581786 c.5363A>G p.Q1788R missense 0.00005925●●●●●●
125. 7579974 c.3551G>A p.R1184Q missense 0.00005887●●●●●●
126. 7577194 c.2796C>T p.N932N splice site 0.00005854●●●●●●
127. 7585980 c.8485_8496delTCCCGCTCGGGA p.Ser2829_Gly2832del inframe 0.00005849●●●●●●
128. 7579569 c.3146C>T p.S1049L missense 0.00005836●●●●●●
129. 7580981 c.4558A>G p.S1520G missense 0.00005826●●●●●●
130. 7581485 c.5062G>A p.A1688T missense 0.00005822●●●●●●
131. 7580379 c.3956C>G p.T1319S missense 0.00005810●●●●●●
132. 7580796 c.4373G>A p.R1458Q missense 0.00005793●●●●●●
133. 7584213 c.6718C>G p.Q2240E missense 0.00005772●●●●●●
134. 7574382 c.2194A>G p.N732D missense 0.00005769●●●●●●
135. 7583008 c.5513G>A p.R1838H missense 0.00005767●●●●●●
136. 7558419 c.344A>G p.N115S missense 0.00005766●●●●●●
137. 7575559 c.2468C>T p.S823L missense 0.00005766●●●●●●
138. 7584060 c.6565C>T p.R2189W missense 0.00005766●●●●●●
139. 7569500 c.1501G>A p.V501I missense 0.00005765●●●●●●
140. 7559557 c.521G>T p.C174F missense 0.00005765●●●●●●
141. 7574937 c.2345A>G p.D782G missense 0.00005765●●●●●●
142. 7542194 c.46C>A p.R16S missense 0.00005609●●●●●●
143. 7586002 c.8507G>A p.G2836E missense 0.00005016●●●●●●
144. 7586000 c.8505_8506insGGATCTCGCTCC p.Ser2835_Gly2836insGlySerArgSer inframe 0.00005011●●●●●●
145. 7580981 c.4558A>T p.S1520C missense 0.00004994●●●●●●
146. 7579761 c.3338G>A p.R1113Q missense 0.00004991●●●●●●
147. 7580494 c.4071G>C p.E1357D missense 0.00004975●●●●●●
148. 7571821 c.1903+4G>A splice site 0.00004958●●●●●●
149. 7585312 c.7817G>A p.S2606N missense 0.00004957●●●●●●
150. 7585668 c.8173C>T p.R2725C missense 0.00004948●●●●●●
151. 7572189 c.2018A>C p.Q673P missense 0.00004945●●●●●●
152. 7565730 c.916G>A p.A306T missense 0.00004944●●●●●●
153. 7576540 c.2644G>A p.E882K missense 0.00004944●●●●●●
154. 7562954 c.667G>A p.G223S missense 0.00004942●●●●●●
155. 7542305 c.157T>C p.S53P missense 0.00004444●●●●●●
156. 7577261 c.2863G>A p.A955T missense 0.00004280●●●●●●
157. 7579557 c.3134G>A p.R1045Q missense 0.00004176●●●●●●
158. 7579748 c.3325G>A p.E1109K missense 0.00004157●●●●●●
159. 7579727 c.3304G>A p.G1102S missense 0.00004154●●●●●●
160. 7583742 c.6247C>T p.R2083C missense 0.00004146●●●●●●
161. 7585410 c.7915C>T p.R2639W missense 0.00004146●●●●●●
162. 7585459 c.7964C>G p.A2655G missense 0.00004145●●●●●●
163. 7585968 c.8473_8484delTCCCGCTCCGGC p.Ser2825_Gly2828del inframe 0.00004141●●●●●●
164. 7583289 c.5794C>T p.R1932C missense 0.00004139●●●●●●
165. 7584859 c.7364C>T p.T2455I missense 0.00004132●●●●●●
166. 7583911 c.6416A>G p.N2139S missense 0.00004132●●●●●●
167. 7583974 c.6479G>A p.R2160Q missense 0.00004126●●●●●●
168. 7568821 c.1418A>G p.Q473R missense 0.00004124●●●●●●
169. 7585612 c.8117A>T p.K2706M missense 0.00004123●●●●●●
170. 7578715 c.3004C>T p.R1002W missense 0.00004121●●●●●●
171. 7575713 c.2622C>G p.I874M missense 0.00004121●●●●●●
172. 7583113 c.5618G>A p.R1873H missense 0.00004120●●●●●●
173. 7572208 c.2037A>G p.I679M missense 0.00004120●●●●●●
174. 7585201 c.7706C>T p.T2569I missense 0.00004119●●●●●●
175. 7578093 c.2959T>A p.S987T missense 0.00004119●●●●●●
176. 7584184 c.6689C>T p.P2230L missense 0.00004119●●●●●●
177. 7569425 c.1426G>A p.V476M missense 0.00004119●●●●●●
178. 7583017 c.5522C>T p.S1841L missense 0.00004119●●●●●●
179. 7569533 c.1534A>G p.I512V missense 0.00004118●●●●●●
180. 7558375 c.300A>T p.Q100H missense 0.00004118●●●●●●
181. 7558389 c.314G>A p.R105Q missense 0.00004118●●●●●●
182. 7569580 c.1574+7C>T splice site 0.00004118●●●●●●
183. 7569467 c.1468C>T p.R490C missense 0.00004118●●●●●●
184. 7575660 c.2569G>A p.G857S missense 0.00004118●●●●●●
185. 7585084 c.7589T>C p.I2530T missense 0.00004118●●●●●●
186. 7569468 c.1469G>A p.R490H missense 0.00004118●●●●●●
187. 7542294 c.146C>T p.T49I missense 0.00004074●●●●●●
188. 7542285 c.137G>A p.G46D missense 0.00003814●●●●●●
189. 7542284 c.136G>A p.G46S missense 0.00003796●●●●●●
190. 7542227 c.79C>T p.R27C missense 0.00003739●●●●●●
191. 7542279 c.131G>C p.R44P missense 0.00003694●●●●●●
192. 7579953 c.3530T>A p.L1177Q missense 0.00003359●●●●●●
193. 7581096 c.4673G>A p.R1558Q missense 0.00003336●●●●●●
194. 7581033 c.4610G>A p.R1537H missense 0.00003331●●●●●●
195. 7580954 c.4531C>T p.Q1511X nonsense 0.00003330●●●●●●
196. 7580988 c.4565C>T p.T1522M missense 0.00003330●●●●●●
197. 7580183 c.3760G>A p.V1254I missense 0.00003329●●●●●●
198. 7580187 c.3764G>A p.R1255K missense 0.00003329●●●●●●
199. 7581420 c.4997G>A p.R1666Q missense 0.00003329●●●●●●
200. 7583728 c.6233T>C p.I2078T missense 0.00003321●●●●●●
201. 7580300 c.3877A>G p.I1293V missense 0.00003321●●●●●●
202. 7580442 c.4019G>A p.R1340H missense 0.00003318●●●●●●
203. 7580837 c.4414G>T p.A1472S missense 0.00003318●●●●●●
204. 7576522 c.2631-5C>T splice site 0.00003314●●●●●●
205. 7585347 c.7852C>T p.P2618S missense 0.00003312●●●●●●
206. 7581583 c.5160_5162delAGA p.Glu1723del inframe 0.00003311●●●●●●
207. 7566704 c.1034A>G p.D345G missense 0.00003311●●●●●●
208. 7583376 c.5881G>A p.V1961I missense 0.00003309●●●●●●
209. 7585537 c.8042A>C p.D2681A missense 0.00003308●●●●●●
210. 7581606 c.5183G>A p.R1728K missense 0.00003307●●●●●●
211. 7572120 c.1949A>G p.N650S missense 0.00003306●●●●●●
212. 7580656 c.4233G>C p.R1411S missense 0.00003306●●●●●●
213. 7583892 c.6397G>A p.G2133S missense 0.00003306●●●●●●
214. 7583805 c.6310delA frameshift 0.00003306●●●●●●
215. 7583959 c.6464A>G p.D2155G missense 0.00003302●●●●●●
216. 7584260 c.6765G>T p.Q2255H missense 0.00003301●●●●●●
217. 7585804 c.8309A>G p.Y2770C missense 0.00003301●●●●●●
218. 7585728 c.8233A>G p.I2745V missense 0.00003301●●●●●●
219. 7559633 c.597_597+1insGTAA p.Ala200ValfsTer21 frameshift 0.00003300●●●●●●
220. 7585667 c.8172G>T p.Q2724H missense 0.00003299●●●●●●
221. 7585885 c.8390T>C p.I2797T missense 0.00003299●●●●●●
222. 7585869 c.8374T>A p.S2792T missense 0.00003298●●●●●●
223. 7571754 c.1840G>A p.D614N missense 0.00003298●●●●●●
224. 7571731 c.1817G>A p.R606Q missense 0.00003298●●●●●●
225. 7576667 c.2771T>C p.M924T missense 0.00003298●●●●●●
226. 7582909 c.5414G>A p.C1805Y missense 0.00003297●●●●●●
227. 7582907 c.5412G>T p.Q1804H missense 0.00003297●●●●●●
228. 7576631 c.2735T>C p.L912S missense 0.00003296●●●●●●
229. 7578008 c.2878-4G>A splice site 0.00003296●●●●●●
230. 7576571 c.2675G>A p.R892H missense 0.00003296●●●●●●
231. 7584528 c.7033G>C p.G2345R missense 0.00003296●●●●●●
232. 7563982 c.740C>T p.A247V missense 0.00003295●●●●●●
233. 7558345 c.274-4T>G splice site 0.00003295●●●●●●
234. 7562880 c.598-5C>T splice site 0.00003295●●●●●●
235. 7570725 c.1630A>C p.M544L missense 0.00003295●●●●●●
236. 7575643 c.2552T>A p.L851Q missense 0.00003295●●●●●●
237. 7584061 c.6566G>A p.R2189Q missense 0.00003295●●●●●●
238. 7575631 c.2540C>G p.P847R missense 0.00003295●●●●●●
239. 7575640 c.2549_2550insTCT p.D850delinsDL inframe 0.00003295●●●●●●
240. 7558415 c.340G>A p.A114T missense 0.00003295●●●●●●
241. 7542209 c.61G>A p.E21K missense 0.00003129●●●●●●
242. 7542263 c.115A>G p.R39G missense 0.00003020●●●●●●
243. 7542255 c.107G>T p.G36V missense 0.00002863●●●●●●
244. 7542255 c.107G>C p.G36A missense 0.00002863●●●●●●
245. 7542252 c.104G>C p.G35A missense 0.00002714●●●●●●
246. 7581810 c.5379+8C>A splice site 0.00002562●●●●●●
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249. 7586077 c.8582delC p.Tyr2862ThrfsTer21 frameshift 0.00002520●●●●●●
250. 7580023 c.3600T>G p.N1200K missense 0.00002506●●●●●●
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253. 7581089 c.4666A>G p.I1556V missense 0.00002501●●●●●●
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256. 7580197 c.3774C>A p.D1258E missense 0.00002497●●●●●●
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260. 7580223 c.3800G>A p.R1267Q missense 0.00002496●●●●●●
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263. 7583718 c.6223C>T p.R2075W missense 0.00002494●●●●●●
264. 7579746 c.3323A>G p.N1108S missense 0.00002494●●●●●●
265. 7579649 c.3226C>T p.L1076F missense 0.00002491●●●●●●
266. 7580328 c.3905G>A p.R1302H missense 0.00002490●●●●●●
267. 7580418 c.3995C>T p.A1332V missense 0.00002488●●●●●●
268. 7580431 c.4008delG p.Glu1337ArgfsTer12 frameshift 0.00002488●●●●●●
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270. 7580525 c.4102A>G p.T1368A missense 0.00002486●●●●●●
271. 7566614 c.944G>T p.R315L missense 0.00002485●●●●●●
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280. 7585896 c.8401C>G p.R2801G missense 0.00002475●●●●●●
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282. 7585613 c.8118G>C p.K2706N missense 0.00002474●●●●●●
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286. 7565676 c.862G>A p.D288N missense 0.00002472●●●●●●
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290. 7576616 c.2720G>A p.R907H missense 0.00002472●●●●●●
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292. 7574372 c.2184T>A p.D728E missense 0.00002472●●●●●●
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299. 7567584 c.1045-3C>T splice site 0.00002471●●●●●●
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303. 7578075 c.2941A>G p.K981E missense 0.00002471●●●●●●
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305. 7585197 c.7702G>A p.G2568S missense 0.00002471●●●●●●
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317. 7577186 c.2794-6G>A splice site 0.00001690●●●●●●
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321. 7579996 c.3573G>C p.E1191D missense 0.00001678●●●●●●
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330. 7581384 c.4961T>C p.L1654P missense 0.00001667●●●●●●
331. 7581071 c.4648A>T p.T1550S missense 0.00001666●●●●●●
332. 7580187 c.3764G>C p.R1255T missense 0.00001665●●●●●●
333. 7580996 c.4573A>G p.I1525V missense 0.00001665●●●●●●
334. 7577246 c.2848A>G p.I950V missense 0.00001664●●●●●●
335. 7579766 c.3343A>G p.T1115A missense 0.00001664●●●●●●
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338. 7580901 c.4478A>C p.E1493A missense 0.00001663●●●●●●
339. 7580271 c.3848A>C p.E1283A missense 0.00001662●●●●●●
340. 7577238 c.2840T>C p.V947A missense 0.00001661●●●●●●
341. 7579705 c.3282G>C p.K1094N missense 0.00001660●●●●●●
342. 7580327 c.3904C>T p.R1302C missense 0.00001660●●●●●●
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344. 7580301 c.3878T>C p.I1293T missense 0.00001660●●●●●●
345. 7580379 c.3956C>T p.T1319I missense 0.00001660●●●●●●
346. 7585371 c.7876G>C p.E2626Q missense 0.00001659●●●●●●
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349. 7581546 c.5123C>T p.S1708F missense 0.00001659●●●●●●
350. 7580466 c.4043T>G p.L1348R missense 0.00001659●●●●●●
351. 7580077 c.3654G>C p.K1218N missense 0.00001659●●●●●●
352. 7583587 c.6092T>C p.L2031S missense 0.00001658●●●●●●
353. 7580492 c.4069_4071delGAG p.Glu1357del inframe 0.00001658●●●●●●
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355. 7580828 c.4405C>T p.L1469F missense 0.00001658●●●●●●
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357. 7585429 c.7934T>C p.I2645T missense 0.00001657●●●●●●
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360. 7583317 c.5822A>C p.K1941T missense 0.00001656●●●●●●
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363. 7583523 c.6028C>T p.P2010S missense 0.00001655●●●●●●
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365. 7583764 c.6269A>G p.E2090G missense 0.00001655●●●●●●
366. 7583532 c.6037C>T p.R2013W missense 0.00001655●●●●●●
367. 7585525 c.8030A>G p.Q2677R missense 0.00001655●●●●●●
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369. 7583377 c.5882T>G p.V1961G missense 0.00001654●●●●●●
370. 7580565 c.4142C>G p.T1381S missense 0.00001654●●●●●●
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373. 7583862 c.6367C>T p.R2123C missense 0.00001653●●●●●●
374. 7566686 c.1016A>G p.N339S missense 0.00001653●●●●●●
375. 7583937 c.6442G>A p.A2148T missense 0.00001653●●●●●●
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377. 7583800 c.6305G>T p.G2102V missense 0.00001653●●●●●●
378. 7583216 c.5721G>C p.K1907N missense 0.00001653●●●●●●
379. 7584774 c.7279C>A p.L2427M missense 0.00001653●●●●●●
380. 7583890 c.6395G>A p.G2132E missense 0.00001653●●●●●●
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382. 7583863 c.6368G>A p.R2123H missense 0.00001653●●●●●●
383. 7566672 c.1002C>A p.D334E missense 0.00001652●●●●●●
384. 7584885 c.7390C>T p.R2464C missense 0.00001652●●●●●●
385. 7583193 c.5698G>A p.E1900K missense 0.00001652●●●●●●
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387. 7585774 c.8279C>T p.A2760V missense 0.00001651●●●●●●
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398. 7585704 c.8209G>C p.V2737L missense 0.00001650●●●●●●
399. 7575534 c.2443A>G p.K815E missense 0.00001650●●●●●●
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401. 7585621 c.8126C>T p.A2709V missense 0.00001649●●●●●●
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403. 7572171 c.2000G>C p.W667S missense 0.00001649●●●●●●
404. 7584679 c.7184G>A p.G2395D missense 0.00001649●●●●●●
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406. 7574407 c.2219G>C p.C740S missense 0.00001649●●●●●●
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408. 7585230 c.7735G>A p.D2579N missense 0.00001648●●●●●●
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412. 7584495 c.7000C>T p.R2334X nonsense 0.00001648●●●●●●
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433. 7559589 c.553A>G p.K185E missense 0.00001647●●●●●●
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435. 7562952 c.665G>A p.R222Q missense 0.00001647●●●●●●
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450. 7558503 c.422+6G>T splice site 0.00000942●●●●●●
451. 7556060 c.273+7T>C splice site 0.00000907●●●●●●
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455. 7581290 c.4867T>C p.S1623P missense 0.00000845●●●●●●
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459. 7572293 c.2122G>A p.E708K missense 0.00000843●●●●●●
460. 7581228 c.4805G>A p.R1602K missense 0.00000843●●●●●●
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462. 7579973 c.3550C>T p.R1184W missense 0.00000842●●●●●●
463. 7581317 c.4894G>A p.D1632N missense 0.00000842●●●●●●
464. 7581213 c.4790A>C p.E1597A missense 0.00000841●●●●●●
465. 7581216 c.4793T>A p.L1598Q missense 0.00000841●●●●●●
466. 7556033 c.253G>A p.A85T missense 0.00000841●●●●●●
467. 7572290 c.2119A>G p.N707D missense 0.00000840●●●●●●
468. 7581177 c.4754C>T p.S1585L missense 0.00000839●●●●●●
469. 7579935 c.3512T>C p.I1171T missense 0.00000839●●●●●●
470. 7581173 c.4750G>C p.A1584P missense 0.00000838●●●●●●
471. 7586011 c.8516C>G p.S2839C missense 0.00000838●●●●●●
472. 7579926 c.3503A>G p.E1168G missense 0.00000838●●●●●●
473. 7581174 c.4751C>T p.A1584V missense 0.00000838●●●●●●
474. 7577258 c.2860T>C p.C954R missense 0.00000838●●●●●●
475. 7577259 c.2861G>A p.C954Y missense 0.00000838●●●●●●
476. 7581171 c.4748C>G p.T1583S missense 0.00000838●●●●●●
477. 7586061 c.8566T>A p.S2856T missense 0.00000837●●●●●●
478. 7586001 c.8506G>A p.G2836R missense 0.00000837●●●●●●
479. 7586013 c.8518G>T p.G2840W missense 0.00000837●●●●●●
480. 7580015 c.3592C>T p.H1198Y missense 0.00000837●●●●●●
481. 7579554 c.3131C>T p.A1044V missense 0.00000836●●●●●●
482. 7586032 c.8537G>A p.R2846Q missense 0.00000836●●●●●●
483. 7586026 c.8531G>T p.G2844V missense 0.00000836●●●●●●
484. 7579896 c.3473T>C p.L1158S missense 0.00000836●●●●●●
485. 7581158 c.4735C>T p.R1579W missense 0.00000836●●●●●●
486. 7586055 c.8560G>C p.G2854R missense 0.00000836●●●●●●
487. 7581345 c.4922A>G p.D1641G missense 0.00000836●●●●●●
488. 7581159 c.4736G>A p.R1579Q missense 0.00000836●●●●●●
489. 7586059 c.8564A>T p.N2855I missense 0.00000836●●●●●●
490. 7586026 c.8531G>C p.G2844A missense 0.00000836●●●●●●
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984. 7585864 c.8369A>G p.N2790S missense 0.00000824●●●●●●
985. 7567579 c.1045-8T>C splice site 0.00000824●●●●●●
986. 7585245 c.7750A>G p.S2584G missense 0.00000824●●●●●●
987. 7574969 c.2377G>A p.E793K missense 0.00000824●●●●●●
988. 7585110 c.7615G>A p.V2539I missense 0.00000824●●●●●●
989. 7582908 c.5413T>G p.C1805G missense 0.00000824●●●●●●
990. 7574374 c.2186T>G p.M729R missense 0.00000824●●●●●●
991. 7570726 c.1631T>C p.M544T missense 0.00000824●●●●●●
992. 7569581 c.1574+8A>G splice site 0.00000824●●●●●●
993. 7562883 c.598-2A>G essential splice site 0.00000824●●●●●●
994. 7576615 c.2719C>T p.R907C missense 0.00000824●●●●●●
995. 7562972 c.685G>A p.G229S missense 0.00000824●●●●●●
996. 7585033 c.7538G>A p.G2513D missense 0.00000824●●●●●●
997. 7565674 c.860A>G p.N287S missense 0.00000824●●●●●●
998. 7584059 c.6564A>C p.E2188D missense 0.00000824●●●●●●
999. 7572174 c.2003T>C p.M668T missense 0.00000824●●●●●●
1000. 7562982 c.695G>A p.R232H missense 0.00000824●●●●●●
1001. 7558374 c.299A>T p.Q100L missense 0.00000824●●●●●●
1002. 7562972 c.685G>T p.G229C missense 0.00000824●●●●●●
1003. 7563962 c.727-7C>G splice site 0.00000824●●●●●●
1004. 7578778 c.3067A>C p.S1023R missense 0.00000824●●●●●●
1005. 7575688 c.2597G>A p.R866H missense 0.00000824●●●●●●
1006. 7559601 c.565A>G p.S189G missense 0.00000824●●●●●●
1007. 7562973 c.686G>A p.G229D missense 0.00000824●●●●●●
1008. 7578111 c.2977C>G p.L993V missense 0.00000824●●●●●●
1009. 7575628 c.2537A>G p.Y846C missense 0.00000824●●●●●●
1010. 7584562 c.7067A>C p.K2356T missense 0.00000824●●●●●●
1011. 7575547 c.2456A>G p.N819S missense 0.00000824●●●●●●
1012. 7559614 c.578G>C p.G193A 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.