DSP protein-altering variants in ExAC

DSP gene summary
DSP variants in DCM

The table below lists the DSP protein-altering variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. 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. 7542186 c.38C>T p.T13I missense 0.00006508●●●●●●
4. 7542194 c.46C>T p.R16C missense 0.00001402●●●●●●
5. 7542194 c.46C>A p.R16S missense 0.00005609●●●●●●
6. 7542203 c.55C>T p.R19C missense 0.00006007●●●●●●
7. 7542209 c.61G>A p.E21K missense 0.00003129●●●●●●
8. 7542211 c.63G>T p.E21D missense 0.00001609●●●●●●
9. 7542227 c.79C>T p.R27C missense 0.00003739●●●●●●
10. 7542230 c.82T>G p.Y28D missense 0.00001911●●●●●●
11. 7542239 c.91A>G p.T31A missense 0.00002168●●●●●●
12. 7542252 c.104G>C p.G35A missense 0.00002714●●●●●●
13. 7542255 c.107G>T p.G36V missense 0.00002863●●●●●●
14. 7542255 c.107G>C p.G36A missense 0.00002863●●●●●●
15. 7542263 c.115A>G p.R39G missense 0.00003020●●●●●●
16. 7542279 c.131G>C p.R44P missense 0.00003694●●●●●●
17. 7542284 c.136G>A p.G46S missense 0.00003796●●●●●●
18. 7542285 c.137G>A p.G46D missense 0.00003814●●●●●●
19. 7542294 c.146C>T p.T49I missense 0.00004074●●●●●●
20. 7542305 c.157T>C p.S53P missense 0.00004444●●●●●●
21. 7555962 c.182C>T p.T61M missense 0.00001651●●●●●●
22. 7555968 c.188C>G p.S63C missense 0.00000825●●●●●●
23. 7555974 c.194A>T p.H65L missense 0.00000825●●●●●●
24. 7556015 c.235T>C p.S79P missense 0.00000828●●●●●●
25. 7556033 c.253G>A p.A85T missense 0.00000841●●●●●●
26. 7556036 c.256G>C p.E86Q missense 0.00001695●●●●●●
27. 7556039 c.259C>G p.L87V missense 0.00002558●●●●●●
28. 7556045 c.265G>A p.V89M missense 0.00000869●●●●●●
29. 7556051 c.271C>G p.P91A missense 0.00001764●●●●●●
30. 7558359 c.284A>G p.Y95C missense 0.00002471●●●●●●
31. 7558362 c.287G>C p.G96A missense 0.00000824●●●●●●
32. 7558366 c.291T>G p.D97E missense 0.00000824●●●●●●
33. 7558374 c.299A>T p.Q100L missense 0.00000824●●●●●●
34. 7558375 c.300A>T p.Q100H missense 0.00004118●●●●●●
35. 7558379 c.304A>C p.T102P missense 0.00000824●●●●●●
36. 7558382 c.307C>T p.R103W missense 0.00002471●●●●●●
37. 7558382 c.307C>G p.R103G missense 0.00001647●●●●●●
38. 7558383 c.308G>A p.R103Q missense 0.00000824●●●●●●
39. 7558389 c.314G>A p.R105Q missense 0.00004118●●●●●●
40. 7558409 c.334G>T p.A112S missense 0.00000824●●●●●●
41. 7558415 c.340G>A p.A114T missense 0.00003295●●●●●●
42. 7558419 c.344A>G p.N115S missense 0.00005766●●●●●●
43. 7558428 c.353T>C p.M118T missense 0.00000824●●●●●●
44. 7558439 c.364G>A p.D122N missense 0.00000824●●●●●●
45. 7558460 c.385C>T p.R129W missense 0.00001655●●●●●●
46. 7558461 c.386G>A p.R129Q missense 0.00000828●●●●●●
47. 7558483 c.408T>G p.D136E missense 0.00001716●●●●●●
48. 7559459 c.423G>C p.R141S missense 0.00000826●●●●●●
49. 7559460 c.424C>T p.L142F missense 0.00002477●●●●●●
50. 7559464 c.428T>C p.L143P missense 0.00000825●●●●●●
51. 7559467 c.431A>C p.Q144P missense 0.00000825●●●●●●
52. 7559481 c.445A>T p.M149L missense 0.00000824●●●●●●
53. 7559485 c.449G>A p.R150Q missense 0.00002471●●●●●●
54. 7559502 c.466A>C p.I156L missense 0.00000824●●●●●●
55. 7559502 c.466A>G p.I156V missense 0.00000824●●●●●●
56. 7559503 c.467T>A p.I156N missense 0.00001647●●●●●●
57. 7559515 c.479G>A p.R160Q missense 0.00002471●●●●●●
58. 7559520 c.484C>G p.R162G missense 0.00002471●●●●●●
59. 7559520 c.484C>T p.R162C missense 0.00002471●●●●●●
60. 7559521 c.485G>A p.R162H missense 0.00001647●●●●●●
61. 7559521 c.485G>T p.R162L missense 0.00000824●●●●●●
62. 7559527 c.491C>T p.A164V missense 0.00000824●●●●●●
63. 7559535 c.499delA p.Lys167ArgfsTer29 frameshift 0.00000824●●●●●●
64. 7559539 c.503G>C p.G168A missense 0.00000824●●●●●●
65. 7559544 c.508G>A p.G170R missense 0.00001647●●●●●●
66. 7559554 c.518C>T p.T173I missense 0.00000824●●●●●●
67. 7559557 c.521G>T p.C174F missense 0.00005765●●●●●●
68. 7559557 c.521G>A p.C174Y missense 0.00000824●●●●●●
69. 7559571 c.535G>A p.G179S missense 0.00001647●●●●●●
70. 7559576 c.540G>C p.W180C missense 0.00000824●●●●●●
71. 7559589 c.553A>G p.K185E missense 0.00001647●●●●●●
72. 7559590 c.554A>G p.K185R missense 0.00000824●●●●●●
73. 7559601 c.565A>G p.S189G missense 0.00000824●●●●●●
74. 7559608 c.572G>A p.C191Y missense 0.00000824●●●●●●
75. 7559611 c.575T>C p.L192S missense 0.00000824●●●●●●
76. 7559614 c.578G>C p.G193A missense 0.00000824●●●●●●
77. 7559619 c.583A>G p.M195V missense 0.00001648●●●●●●
78. 7559622 c.586A>G p.R196G missense 0.00000824●●●●●●
79. 7559632 c.596G>A p.R199K missense 0.00002474●●●●●●
80. 7559633 c.597_597+1insGTAA p.Ala200ValfsTer21 frameshift 0.00003300●●●●●●
81. 7562883 c.598-2A>G essential splice site 0.00000824●●●●●●
82. 7562884 c.598-1G>C essential splice site 0.00000824●●●●●●
83. 7562912 c.625G>A p.V209M missense 0.00000824●●●●●●
84. 7562927 c.640G>A p.V214M missense 0.00000824●●●●●●
85. 7562930 c.643G>A p.E215K missense 0.00006589●●●●●●
86. 7562952 c.665G>A p.R222Q missense 0.00001647●●●●●●
87. 7562952 c.665G>C p.R222P missense 0.00000824●●●●●●
88. 7562954 c.667G>A p.G223S missense 0.00004942●●●●●●
89. 7562957 c.670A>G p.I224V missense 0.00000824●●●●●●
90. 7562972 c.685G>A p.G229S missense 0.00000824●●●●●●
91. 7562972 c.685G>T p.G229C missense 0.00000824●●●●●●
92. 7562973 c.686G>A p.G229D missense 0.00000824●●●●●●
93. 7562979 c.692A>G p.Y231C missense 0.00001647●●●●●●
94. 7562981 c.694C>T p.R232C missense 0.00000824●●●●●●
95. 7562982 c.695G>A p.R232H missense 0.00000824●●●●●●
96. 7563014 c.726+1G>A essential splice site 0.00000824●●●●●●
97. 7563970 c.728G>A p.R243H missense 0.00000824●●●●●●
98. 7563982 c.740C>T p.A247V missense 0.00003295●●●●●●
99. 7565627 c.813G>T p.Q271H missense 0.00000824●●●●●●
100. 7565636 c.822C>G p.N274K missense 0.00000824●●●●●●
101. 7565655 c.841A>G p.R281G missense 0.00000824●●●●●●
102. 7565664 c.850A>G p.M284V missense 0.00000824●●●●●●
103. 7565674 c.860A>G p.N287S missense 0.00000824●●●●●●
104. 7565676 c.862G>A p.D288N missense 0.00002472●●●●●●
105. 7565703 c.889G>A p.D297N missense 0.00008240●●●●●●
106. 7565712 c.898G>A p.D300N missense 0.00000824●●●●●●
107. 7565714 c.900C>A p.D300E missense 0.00000824●●●●●●
108. 7565725 c.911A>T p.N304I missense 0.00000824●●●●●●
109. 7565727 c.913A>G p.I305V missense 0.00000824●●●●●●
110. 7565730 c.916G>A p.A306T missense 0.00004944●●●●●●
111. 7566613 c.943C>T p.R315C missense 0.00007456●●●●●●
112. 7566614 c.944G>T p.R315L missense 0.00002485●●●●●●
113. 7566614 c.944G>A p.R315H missense 0.00000828●●●●●●
114. 7566616 c.946A>G p.M316V missense 0.00002484●●●●●●
115. 7566631 c.961G>C p.V321L missense 0.00002480●●●●●●
116. 7566635 c.965A>G p.K322R missense 0.00000826●●●●●●
117. 7566640 c.970A>C p.K324Q missense 0.00000826●●●●●●
118. 7566644 c.974A>G p.E325G missense 0.00000826●●●●●●
119. 7566662 c.992A>G p.Q331R missense 0.00000826●●●●●●
120. 7566662 c.992A>C p.Q331P missense 0.00000826●●●●●●
121. 7566667 c.997A>G p.S333G missense 0.00000826●●●●●●
122. 7566668 c.998G>A p.S333N missense 0.00000826●●●●●●
123. 7566672 c.1002C>A p.D334E missense 0.00001652●●●●●●
124. 7566676 c.1006C>T p.L336F missense 0.00000826●●●●●●
125. 7566680 c.1010T>C p.V337A missense 0.00000826●●●●●●
126. 7566682 c.1012C>T p.L338F missense 0.00000826●●●●●●
127. 7566686 c.1016A>G p.N339S missense 0.00001653●●●●●●
128. 7566704 c.1034A>G p.D345G missense 0.00003311●●●●●●
129. 7566710 c.1040T>C p.I347T missense 0.00000829●●●●●●
130. 7567609 c.1067C>T p.T356M missense 0.00000824●●●●●●
131. 7567631 c.1089G>C p.Q363H missense 0.00000824●●●●●●
132. 7567636 c.1094C>T p.T365I missense 0.00000824●●●●●●
133. 7567645 c.1103T>C p.I368T missense 0.00007413●●●●●●
134. 7567648 c.1106A>T p.D369V missense 0.00000824●●●●●●
135. 7567677 c.1135T>A p.F379I missense 0.00000824●●●●●●
136. 7568026 c.1153G>T p.A385S missense 0.00002474●●●●●●
137. 7568031 c.1158G>T p.Q386H missense 0.00000825●●●●●●
138. 7568033 c.1160C>T p.S387F missense 0.00000825●●●●●●
139. 7568035 c.1162A>G p.T388A missense 0.00000825●●●●●●
140. 7568053 c.1180G>A p.G394R missense 0.00000825●●●●●●
141. 7568066 c.1193C>T p.S398F missense 0.00000825●●●●●●
142. 7568070 c.1197C>G p.I399M missense 0.00001651●●●●●●
143. 7568095 c.1222A>C p.N408H missense 0.00002480●●●●●●
144. 7568097 c.1224C>A p.N408K missense 0.00000827●●●●●●
145. 7568105 c.1232T>C p.L411P missense 0.00000827●●●●●●
146. 7568110 c.1237C>T p.H413Y missense 0.00000828●●●●●●
147. 7568127 c.1254C>G p.I418M missense 0.00000830●●●●●●
148. 7568134 c.1261C>G p.L421V missense 0.00000831●●●●●●
149. 7568135 c.1262T>C p.L421P missense 0.00000831●●●●●●
150. 7568676 c.1273C>T p.R425X nonsense 0.00000824●●●●●●
151. 7568677 c.1274G>A p.R425Q missense 0.00002472●●●●●●
152. 7568679 c.1276G>A p.E426K missense 0.00000824●●●●●●
153. 7568686 c.1283T>A p.I428N missense 0.00000824●●●●●●
154. 7568689 c.1286T>C p.L429P missense 0.00000824●●●●●●
155. 7568691 c.1288G>A p.E430K missense 0.00000824●●●●●●
156. 7568700 c.1297C>T p.R433C missense 0.00001648●●●●●●
157. 7568701 c.1298G>A p.R433H missense 0.00002471●●●●●●
158. 7568727 c.1324T>G p.S442A missense 0.00002471●●●●●●
159. 7568752 c.1349C>T p.P450L missense 0.00001648●●●●●●
160. 7568765 c.1362C>A p.D454E missense 0.00000824●●●●●●
161. 7568781 c.1378C>G p.P460A missense 0.00000824●●●●●●
162. 7568782 c.1379C>T p.P460L missense 0.00000824●●●●●●
163. 7568815 c.1412A>G p.Q471R missense 0.00000825●●●●●●
164. 7568821 c.1418A>G p.Q473R missense 0.00004124●●●●●●
165. 7569425 c.1426G>A p.V476M missense 0.00004119●●●●●●
166. 7569425 c.1426G>T p.V476L missense 0.00000824●●●●●●
167. 7569443 c.1444T>G p.C482G missense 0.00001647●●●●●●
168. 7569467 c.1468C>T p.R490C missense 0.00004118●●●●●●
169. 7569468 c.1469G>A p.R490H missense 0.00004118●●●●●●
170. 7569486 c.1487C>T p.T496M missense 0.00002471●●●●●●
171. 7569492 c.1493C>T p.P498L missense 0.00002471●●●●●●
172. 7569498 c.1499G>A p.G500D missense 0.00000824●●●●●●
173. 7569500 c.1501G>A p.V501I missense 0.00005765●●●●●●
174. 7569503 c.1504G>A p.D502N missense 0.00000824●●●●●●
175. 7569508 c.1509G>T p.M503I missense 0.00000824●●●●●●
176. 7569521 c.1522G>A p.V508M missense 0.00000824●●●●●●
177. 7569533 c.1534A>G p.I512V missense 0.00004118●●●●●●
178. 7569539 c.1540C>T p.P514S missense 0.00000824●●●●●●
179. 7569557 c.1558G>A p.V520M missense 0.00001647●●●●●●
180. 7569561 c.1562A>C p.D521A missense 0.00002471●●●●●●
181. 7569562 c.1563C>A p.D521E missense 0.00000824●●●●●●
182. 7570698 c.1603G>T p.A535S missense 0.00000824●●●●●●
183. 7570725 c.1630A>C p.M544L missense 0.00003295●●●●●●
184. 7570726 c.1631T>C p.M544T missense 0.00000824●●●●●●
185. 7570758 c.1663A>T p.I555F missense 0.00000824●●●●●●
186. 7570763 c.1668delC p.Asp556GlufsTer2 frameshift 0.00000824●●●●●●
187. 7570766 c.1671A>G p.I557M missense 0.00000824●●●●●●
188. 7570767 c.1672G>C p.E558Q missense 0.00001647●●●●●●
189. 7570780 c.1685C>T p.A562V missense 0.00000824●●●●●●
190. 7571623 c.1709C>T p.T570I missense 0.00001650●●●●●●
191. 7571629 c.1715G>A p.R572Q missense 0.00001650●●●●●●
192. 7571643 c.1729A>C p.M577L missense 0.00000825●●●●●●
193. 7571644 c.1730T>C p.M577T missense 0.00001650●●●●●●
194. 7571646 c.1732A>C p.K578Q missense 0.00000825●●●●●●
195. 7571650 c.1736C>T p.T579M missense 0.00000825●●●●●●
196. 7571652 c.1738A>G p.I580V missense 0.00000825●●●●●●
197. 7571658 c.1744G>A p.D582N missense 0.00000825●●●●●●
198. 7571664 c.1750G>A p.E584K missense 0.00000825●●●●●●
199. 7571695 c.1781G>T p.S594I missense 0.00000825●●●●●●
200. 7571721 c.1807G>C p.D603H missense 0.00000825●●●●●●
201. 7571730 c.1816C>T p.R606W missense 0.00002474●●●●●●
202. 7571731 c.1817G>A p.R606Q missense 0.00003298●●●●●●
203. 7571738 c.1824A>G p.I608M missense 0.00000825●●●●●●
204. 7571754 c.1840G>A p.D614N missense 0.00003298●●●●●●
205. 7571766 c.1852C>T p.H618Y missense 0.00000825●●●●●●
206. 7571815 c.1901C>G p.T634R missense 0.00000826●●●●●●
207. 7571815 c.1901C>A p.T634K missense 0.00000826●●●●●●
208. 7572117 c.1946T>C p.V649A missense 0.00000827●●●●●●
209. 7572120 c.1949A>G p.N650S missense 0.00003306●●●●●●
210. 7572121 c.1950C>A p.N650K missense 0.00000826●●●●●●
211. 7572126 c.1955A>G p.N652S missense 0.00000826●●●●●●
212. 7572131 c.1960G>A p.V654I missense 0.00001651●●●●●●
213. 7572134 c.1963A>T p.I655F missense 0.00000825●●●●●●
214. 7572137 c.1966G>A p.E656K missense 0.00000825●●●●●●
215. 7572144 c.1973A>G p.N658S missense 0.00000825●●●●●●
216. 7572159 c.1988A>G p.K663R missense 0.00001649●●●●●●
217. 7572167 c.1996A>G p.T666A missense 0.00000824●●●●●●
218. 7572171 c.2000G>C p.W667S missense 0.00001649●●●●●●
219. 7572173 c.2002A>G p.M668V missense 0.00000824●●●●●●
220. 7572174 c.2003T>C p.M668T missense 0.00000824●●●●●●
221. 7572179 c.2008A>G p.M670V missense 0.00000824●●●●●●
222. 7572184 c.2013G>C p.E671D missense 0.00000824●●●●●●
223. 7572189 c.2018A>C p.Q673P missense 0.00004945●●●●●●
224. 7572194 c.2023A>G p.I675V missense 0.00002472●●●●●●
225. 7572194 c.2023A>T p.I675F missense 0.00000824●●●●●●
226. 7572197 c.2026C>T p.R676C missense 0.00001648●●●●●●
227. 7572198 c.2027G>A p.R676H missense 0.00001648●●●●●●
228. 7572201 c.2030G>A p.R677K missense 0.00002472●●●●●●
229. 7572208 c.2037A>G p.I679M missense 0.00004120●●●●●●
230. 7572212 c.2041C>G p.H681D missense 0.00000824●●●●●●
231. 7572213 c.2042A>G p.H681R missense 0.00000824●●●●●●
232. 7572218 c.2047G>A p.E683K missense 0.00001648●●●●●●
233. 7572245 c.2074C>G p.P692A missense 0.00000824●●●●●●
234. 7572252 c.2081C>T p.A694V missense 0.00001648●●●●●●
235. 7572254 c.2083G>C p.D695H missense 0.00000824●●●●●●
236. 7572277 c.2106C>G p.I702M missense 0.00000830●●●●●●
237. 7572290 c.2119A>G p.N707D missense 0.00000840●●●●●●
238. 7572293 c.2122G>A p.E708K missense 0.00000843●●●●●●
239. 7574314 c.2131-5_2131-2delGACA essential splice site 0.00000825●●●●●●
240. 7574322 c.2134G>A p.V712M missense 0.00000825●●●●●●
241. 7574341 c.2153C>T p.A718V missense 0.00000824●●●●●●
242. 7574344 c.2156T>C p.I719T missense 0.00000824●●●●●●
243. 7574359 c.2171A>C p.N724T missense 0.00000824●●●●●●
244. 7574372 c.2184T>A p.D728E missense 0.00002472●●●●●●
245. 7574374 c.2186T>G p.M729R missense 0.00000824●●●●●●
246. 7574379 c.2191G>A p.A731T missense 0.00000824●●●●●●
247. 7574382 c.2194A>G p.N732D missense 0.00005769●●●●●●
248. 7574383 c.2195A>C p.N732T missense 0.00000824●●●●●●
249. 7574407 c.2219G>C p.C740S missense 0.00001649●●●●●●
250. 7574410 c.2222A>G p.Y741C missense 0.00000824●●●●●●
251. 7574443 c.2255A>T p.K752I missense 0.00000825●●●●●●
252. 7574448 c.2260G>A p.E754K missense 0.00001651●●●●●●
253. 7574463 c.2275G>A p.V759I missense 0.00000826●●●●●●
254. 7574467 c.2279C>T p.T760I missense 0.00000826●●●●●●
255. 7574476 c.2288A>G p.Y763C missense 0.00008269●●●●●●
256. 7574906 c.2314G>A p.A772T missense 0.00000824●●●●●●
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258. 7574919 c.2327C>G p.A776G missense 0.00000824●●●●●●
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260. 7574937 c.2345A>G p.D782G missense 0.00005765●●●●●●
261. 7574952 c.2360A>G p.Y787C missense 0.00008236●●●●●●
262. 7574960 c.2368A>G p.R790G missense 0.00000824●●●●●●
263. 7574969 c.2377G>A p.E793K missense 0.00000824●●●●●●
264. 7574978 c.2386A>G p.T796A missense 0.00001647●●●●●●
265. 7574979 c.2387_2390delCTGT p.Val797AlafsTer14 frameshift 0.00000824●●●●●●
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267. 7575015 c.2423G>A p.R808H missense 0.00000824●●●●●●
268. 7575030 c.2436+2T>C essential splice site 0.00000824●●●●●●
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272. 7575559 c.2468C>T p.S823L missense 0.00005766●●●●●●
273. 7575571 c.2480C>A p.T827N missense 0.00000824●●●●●●
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275. 7575628 c.2537A>G p.Y846C missense 0.00000824●●●●●●
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286. 7575688 c.2597G>T p.R866L missense 0.00001648●●●●●●
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288. 7575698 c.2607G>C p.R869S missense 0.00000824●●●●●●
289. 7575700 c.2609T>C p.I870T missense 0.00000824●●●●●●
290. 7575713 c.2622C>G p.I874M missense 0.00004121●●●●●●
291. 7575714 c.2623G>A p.D875N missense 0.00000824●●●●●●
292. 7576540 c.2644G>A p.E882K missense 0.00004944●●●●●●
293. 7576562 c.2666G>A p.R889K missense 0.00006591●●●●●●
294. 7576570 c.2674C>T p.R892C missense 0.00000824●●●●●●
295. 7576571 c.2675G>A p.R892H missense 0.00003296●●●●●●
296. 7576574 c.2678A>C p.D893A missense 0.00000824●●●●●●
297. 7576579 c.2683T>C p.Y895H missense 0.00009887●●●●●●
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299. 7576586 c.2690C>T p.A897V missense 0.00000824●●●●●●
300. 7576594 c.2698A>G p.K900E missense 0.00000824●●●●●●
301. 7576604 c.2708A>G p.Y903C missense 0.00000824●●●●●●
302. 7576615 c.2719C>T p.R907C missense 0.00000824●●●●●●
303. 7576616 c.2720G>A p.R907H missense 0.00002472●●●●●●
304. 7576619 c.2723G>T p.R908L missense 0.00000824●●●●●●
305. 7576624 c.2728G>T p.D910Y missense 0.00000824●●●●●●
306. 7576628 c.2732C>T p.S911F missense 0.00000824●●●●●●
307. 7576631 c.2735T>C p.L912S missense 0.00003296●●●●●●
308. 7576640 c.2744T>A p.M915K missense 0.00000824●●●●●●
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311. 7576667 c.2771T>C p.M924T missense 0.00003298●●●●●●
312. 7577192 c.2794A>G p.N932D missense 0.00001675●●●●●●
313. 7577197 c.2799G>C p.L933F missense 0.00007513●●●●●●
314. 7577220 c.2822G>A p.R941Q missense 0.00000830●●●●●●
315. 7577238 c.2840T>C p.V947A missense 0.00001661●●●●●●
316. 7577241 c.2843A>C p.Q948P missense 0.00000831●●●●●●
317. 7577246 c.2848A>G p.I950V missense 0.00001664●●●●●●
318. 7577247 c.2849T>A p.I950N missense 0.00000834●●●●●●
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320. 7577252 c.2854G>A p.E952K missense 0.00000834●●●●●●
321. 7577256 c.2858T>C p.L953P missense 0.00001675●●●●●●
322. 7577258 c.2860T>C p.C954R missense 0.00000838●●●●●●
323. 7577259 c.2861G>A p.C954Y missense 0.00000838●●●●●●
324. 7577261 c.2863G>A p.A955T missense 0.00004280●●●●●●
325. 7577270 c.2872A>G p.I958V missense 0.00000876●●●●●●
326. 7578021 c.2887C>T p.L963F missense 0.00000824●●●●●●
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328. 7578075 c.2941A>G p.K981E missense 0.00002471●●●●●●
329. 7578093 c.2959T>A p.S987T missense 0.00004119●●●●●●
330. 7578096 c.2962C>T p.P988S missense 0.00000824●●●●●●
331. 7578100 c.2966C>T p.S989F missense 0.00000824●●●●●●
332. 7578111 c.2977C>G p.L993V missense 0.00000824●●●●●●
333. 7578116 c.2982A>C p.Q994H missense 0.00000824●●●●●●
334. 7578704 c.2993A>T p.D998V missense 0.00000825●●●●●●
335. 7578705 c.2994T>G p.D998E missense 0.00000825●●●●●●
336. 7578710 c.2999A>G p.H1000R missense 0.00000824●●●●●●
337. 7578715 c.3004C>T p.R1002W missense 0.00004121●●●●●●
338. 7578716 c.3005G>A p.R1002Q missense 0.00007418●●●●●●
339. 7578716 c.3005G>C p.R1002P missense 0.00000824●●●●●●
340. 7578749 c.3038A>G p.Y1013C missense 0.00000824●●●●●●
341. 7578769 c.3058A>T p.M1020L missense 0.00000824●●●●●●
342. 7578770 c.3059T>C p.M1020T missense 0.00000824●●●●●●
343. 7578778 c.3067A>C p.S1023R missense 0.00000824●●●●●●
344. 7579526 c.3103G>C p.E1035Q missense 0.00001696●●●●●●
345. 7579554 c.3131C>T p.A1044V missense 0.00000836●●●●●●
346. 7579557 c.3134G>A p.R1045Q missense 0.00004176●●●●●●
347. 7579560 c.3137A>T p.D1046V missense 0.00001669●●●●●●
348. 7579560 c.3137A>G p.D1046G missense 0.00000834●●●●●●
349. 7579569 c.3146C>T p.S1049L missense 0.00005836●●●●●●
350. 7579569 c.3146C>G p.S1049W missense 0.00000834●●●●●●
351. 7579590 c.3167A>G p.K1056R missense 0.00002497●●●●●●
352. 7579644 c.3221C>T p.A1074V missense 0.00000831●●●●●●
353. 7579649 c.3226C>T p.L1076F missense 0.00002491●●●●●●
354. 7579695 c.3272A>G p.K1091R missense 0.00000830●●●●●●
355. 7579698 c.3275C>T p.S1092L missense 0.00008302●●●●●●
356. 7579705 c.3282G>C p.K1094N missense 0.00001660●●●●●●
357. 7579721 c.3298T>C p.C1100R missense 0.00000830●●●●●●
358. 7579727 c.3304G>A p.G1102S missense 0.00004154●●●●●●
359. 7579746 c.3323A>G p.N1108S missense 0.00002494●●●●●●
360. 7579748 c.3325G>A p.E1109K missense 0.00004157●●●●●●
361. 7579760 c.3337C>G p.R1113G missense 0.00000832●●●●●●
362. 7579761 c.3338G>A p.R1113Q missense 0.00004991●●●●●●
363. 7579766 c.3343A>G p.T1115A missense 0.00001664●●●●●●
364. 7579770 c.3347A>T p.Y1116F missense 0.00000832●●●●●●
365. 7579796 c.3373A>G p.R1125G missense 0.00000832●●●●●●
366. 7579811 c.3388G>A p.D1130N missense 0.00002497●●●●●●
367. 7579816 c.3393A>T p.R1131S missense 0.00000832●●●●●●
368. 7579827 c.3404A>C p.Q1135P missense 0.00000832●●●●●●
369. 7579879 c.3456C>A p.N1152K missense 0.00000835●●●●●●
370. 7579896 c.3473T>C p.L1158S missense 0.00000836●●●●●●
371. 7579925 c.3502G>A p.E1168K missense 0.00001677●●●●●●
372. 7579926 c.3503A>G p.E1168G missense 0.00000838●●●●●●
373. 7579935 c.3512T>C p.I1171T missense 0.00000839●●●●●●
374. 7579953 c.3530T>A p.L1177Q missense 0.00003359●●●●●●
375. 7579973 c.3550C>T p.R1184W missense 0.00000842●●●●●●
376. 7579974 c.3551G>A p.R1184Q missense 0.00005887●●●●●●
377. 7579985 c.3562T>C p.Y1188H missense 0.00006715●●●●●●
378. 7579996 c.3573G>C p.E1191D missense 0.00001678●●●●●●
379. 7580015 c.3592C>T p.H1198Y missense 0.00000837●●●●●●
380. 7580023 c.3600T>G p.N1200K missense 0.00002506●●●●●●
381. 7580024 c.3601G>A p.E1201K missense 0.00000835●●●●●●
382. 7580032 c.3609G>A p.M1203I missense 0.00000834●●●●●●
383. 7580033 c.3610A>G p.S1204G missense 0.00000833●●●●●●
384. 7580039 c.3616T>A p.L1206I missense 0.00009158●●●●●●
385. 7580067 c.3644A>G p.N1215S missense 0.00000829●●●●●●
386. 7580072 c.3649A>T p.T1217S missense 0.00000829●●●●●●
387. 7580077 c.3654G>C p.K1218N missense 0.00001659●●●●●●
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389. 7580099 c.3676A>G p.M1226V missense 0.00000830●●●●●●
390. 7580108 c.3685G>A p.E1229K missense 0.00000830●●●●●●
391. 7580124 c.3701A>G p.N1234S missense 0.00009136●●●●●●
392. 7580129 c.3706A>G p.R1236G missense 0.00007478●●●●●●
393. 7580135 c.3712C>A p.Q1238K missense 0.00000831●●●●●●
394. 7580138 c.3715C>T p.L1239F missense 0.00000832●●●●●●
395. 7580155 c.3732_3733insGAAAATC p.Asp1248LysfsTer7 frameshift 0.00000832●●●●●●
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398. 7580183 c.3760G>A p.V1254I missense 0.00003329●●●●●●
399. 7580187 c.3764G>A p.R1255K missense 0.00003329●●●●●●
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401. 7580189 c.3766C>T p.L1256F missense 0.00002496●●●●●●
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403. 7580198 c.3775A>G p.S1259G missense 0.00000832●●●●●●
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406. 7580228 c.3805C>T p.R1269X nonsense 0.00000832●●●●●●
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411. 7580265 c.3842G>C p.G1281A missense 0.00000831●●●●●●
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432. 7580418 c.3995C>T p.A1332V missense 0.00002488●●●●●●
433. 7580431 c.4008delG p.Glu1337ArgfsTer12 frameshift 0.00002488●●●●●●
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737. 7584730 c.7235C>A p.T2412N missense 0.00000826●●●●●●
738. 7584744 c.7249G>T p.D2417Y missense 0.00000826●●●●●●
739. 7584774 c.7279C>A p.L2427M missense 0.00001653●●●●●●
740. 7584802 c.7307A>C p.D2436A missense 0.00000827●●●●●●
741. 7584836 c.7341A>C p.K2447N missense 0.00000827●●●●●●
742. 7584840 c.7345_7347delAAG p.Lys2449del inframe 0.00000827●●●●●●
743. 7584855 c.7360C>G p.Q2454E missense 0.00000826●●●●●●
744. 7584859 c.7364C>T p.T2455I missense 0.00004132●●●●●●
745. 7584869 c.7374G>T p.K2458N missense 0.00000826●●●●●●
746. 7584876 c.7381C>T p.L2461F missense 0.00000826●●●●●●
747. 7584885 c.7390C>T p.R2464C missense 0.00001652●●●●●●
748. 7584891 c.7396G>A p.V2466M missense 0.00000826●●●●●●
749. 7584922 c.7427A>G p.E2476G missense 0.00000825●●●●●●
750. 7584960 c.7465G>A p.D2489N missense 0.00000824●●●●●●
751. 7584963 c.7468T>C p.Y2490H missense 0.00000824●●●●●●
752. 7584996 c.7501T>C p.C2501R missense 0.00000824●●●●●●
753. 7585002 c.7507T>A p.W2503R missense 0.00000824●●●●●●
754. 7585029 c.7534G>T p.D2512Y missense 0.00000824●●●●●●
755. 7585033 c.7538G>A p.G2513D missense 0.00000824●●●●●●
756. 7585036 c.7541C>T p.S2514F missense 0.00000824●●●●●●
757. 7585039 c.7544C>G p.T2515S missense 0.00000824●●●●●●
758. 7585044 c.7549G>T p.V2517L missense 0.00000824●●●●●●
759. 7585047 c.7552G>A p.V2518I missense 0.00001647●●●●●●
760. 7585057 c.7562A>G p.D2521G missense 0.00001647●●●●●●
761. 7585078 c.7583A>G p.Y2528C missense 0.00000824●●●●●●
762. 7585084 c.7589T>C p.I2530T missense 0.00004118●●●●●●
763. 7585087 c.7592A>C p.Q2531P missense 0.00000824●●●●●●
764. 7585096 c.7601T>C p.I2534T missense 0.00000824●●●●●●
765. 7585102 c.7607A>T p.K2536M missense 0.00000824●●●●●●
766. 7585110 c.7615G>A p.V2539I missense 0.00000824●●●●●●
767. 7585113 c.7618G>A p.D2540N missense 0.00001647●●●●●●
768. 7585117 c.7622G>A p.R2541K missense 0.00002471●●●●●●
769. 7585125 c.7630T>G p.F2544V missense 0.00000824●●●●●●
770. 7585143 c.7648G>C p.G2550R missense 0.00001647●●●●●●
771. 7585143 c.7648G>A p.G2550S missense 0.00000824●●●●●●
772. 7585159 c.7664C>T p.T2555I missense 0.00000824●●●●●●
773. 7585174 c.7679T>C p.M2560T missense 0.00000824●●●●●●
774. 7585197 c.7702G>A p.G2568S missense 0.00002471●●●●●●
775. 7585201 c.7706C>T p.T2569I missense 0.00004119●●●●●●
776. 7585216 c.7721G>A p.G2574D missense 0.00000824●●●●●●
777. 7585222 c.7727G>T p.G2576V missense 0.00000824●●●●●●
778. 7585225 c.7730T>C p.V2577A missense 0.00000824●●●●●●
779. 7585229 c.7734C>G p.S2578R missense 0.00000824●●●●●●
780. 7585230 c.7735G>A p.D2579N missense 0.00001648●●●●●●
781. 7585233 c.7738G>T p.D2580Y missense 0.00000824●●●●●●
782. 7585240 c.7745T>G p.F2582C missense 0.00001648●●●●●●
783. 7585245 c.7750A>G p.S2584G missense 0.00000824●●●●●●
784. 7585252 c.7757G>A p.R2586Q missense 0.00000824●●●●●●
785. 7585255 c.7760A>G p.H2587R missense 0.00000824●●●●●●
786. 7585262 c.7767_7770delAGTA p.Ser2591ArgfsTer11 frameshift 0.00000824●●●●●●
787. 7585273 c.7778T>G p.I2593S missense 0.00000825●●●●●●
788. 7585279 c.7784C>T p.T2595I missense 0.00000825●●●●●●
789. 7585282 c.7787T>C p.I2596T missense 0.00000825●●●●●●
790. 7585299 c.7804T>G p.L2602V missense 0.00000826●●●●●●
791. 7585312 c.7817G>A p.S2606N missense 0.00004957●●●●●●
792. 7585318 c.7823C>A p.S2608Y missense 0.00000827●●●●●●
793. 7585342 c.7847C>T p.S2616L missense 0.00000828●●●●●●
794. 7585345 c.7850G>A p.S2617N missense 0.00000828●●●●●●
795. 7585347 c.7852C>T p.P2618S missense 0.00003312●●●●●●
796. 7585350 c.7855A>G p.I2619V missense 0.00001656●●●●●●
797. 7585359 c.7864A>G p.I2622V missense 0.00001657●●●●●●
798. 7585371 c.7876G>C p.E2626Q missense 0.00001659●●●●●●
799. 7585380 c.7885G>A p.E2629K missense 0.00000829●●●●●●
800. 7585410 c.7915C>T p.R2639W missense 0.00004146●●●●●●
801. 7585413 c.7918G>T p.G2640C missense 0.00000829●●●●●●
802. 7585429 c.7934T>C p.I2645T missense 0.00001657●●●●●●
803. 7585435 c.7940G>A p.G2647D missense 0.00000828●●●●●●
804. 7585443 c.7948C>T p.L2650F missense 0.00000829●●●●●●
805. 7585458 c.7963G>T p.A2655S missense 0.00000829●●●●●●
806. 7585459 c.7964C>G p.A2655G missense 0.00004145●●●●●●
807. 7585468 c.7973G>T p.G2658V missense 0.00000829●●●●●●
808. 7585489 c.7994C>T p.T2665M missense 0.00002486●●●●●●
809. 7585492 c.7997G>A p.G2666D missense 0.00000829●●●●●●
810. 7585496 c.8001G>C p.Q2667H missense 0.00000828●●●●●●
811. 7585516 c.8021C>G p.A2674G missense 0.00000828●●●●●●
812. 7585525 c.8030A>G p.Q2677R missense 0.00001655●●●●●●
813. 7585528 c.8033G>A p.G2678D missense 0.00000827●●●●●●
814. 7585530 c.8035G>A p.V2679M missense 0.00000827●●●●●●
815. 7585537 c.8042A>C p.D2681A missense 0.00003308●●●●●●
816. 7585539 c.8044C>G p.Q2682E missense 0.00002481●●●●●●
817. 7585545 c.8050A>G p.M2684V missense 0.00000827●●●●●●
818. 7585548 c.8053G>T p.A2685S missense 0.00000827●●●●●●
819. 7585557 c.8062C>G p.L2688V missense 0.00000827●●●●●●
820. 7585557 c.8062C>A p.L2688M missense 0.00000827●●●●●●
821. 7585564 c.8069C>G p.P2690R missense 0.00000826●●●●●●
822. 7585579 c.8084T>A p.F2695Y missense 0.00000826●●●●●●
823. 7585602 c.8107G>A p.G2703R missense 0.00000825●●●●●●
824. 7585612 c.8117A>T p.K2706M missense 0.00004123●●●●●●
825. 7585613 c.8118G>C p.K2706N missense 0.00002474●●●●●●
826. 7585615 c.8120T>C p.M2707T missense 0.00000825●●●●●●
827. 7585621 c.8126C>T p.A2709V missense 0.00001649●●●●●●
828. 7585627 c.8132A>G p.E2711G missense 0.00000824●●●●●●
829. 7585628 c.8133G>T p.E2711D missense 0.00000824●●●●●●
830. 7585658 c.8163G>T p.E2721D missense 0.00000825●●●●●●
831. 7585667 c.8172G>T p.Q2724H missense 0.00003299●●●●●●
832. 7585668 c.8173C>T p.R2725C missense 0.00004948●●●●●●
833. 7585669 c.8174G>A p.R2725H missense 0.00000825●●●●●●
834. 7585704 c.8209G>C p.V2737L missense 0.00001650●●●●●●
835. 7585711 c.8216C>T p.P2739L missense 0.00000825●●●●●●
836. 7585716 c.8221G>A p.V2741M missense 0.00000825●●●●●●
837. 7585719 c.8224C>T p.H2742Y missense 0.00000825●●●●●●
838. 7585720 c.8225A>G p.H2742R missense 0.00000825●●●●●●
839. 7585728 c.8233A>G p.I2745V missense 0.00003301●●●●●●
840. 7585730 c.8235A>G p.I2745M missense 0.00000825●●●●●●
841. 7585733 c.8238C>G p.S2746R missense 0.00000825●●●●●●
842. 7585750 c.8255G>A p.R2752Q missense 0.00000826●●●●●●
843. 7585770 c.8275C>T p.R2759C missense 0.00000826●●●●●●
844. 7585774 c.8279C>T p.A2760V missense 0.00001651●●●●●●
845. 7585783 c.8288_8289insGCTT p.Gln2765AlafsTer23 frameshift 0.00000825●●●●●●
846. 7585793 c.8298C>G p.D2766E missense 0.00000825●●●●●●
847. 7585804 c.8309A>G p.Y2770C missense 0.00003301●●●●●●
848. 7585809 c.8314A>G p.K2772E missense 0.00000825●●●●●●
849. 7585825 c.8330C>A p.P2777H missense 0.00001650●●●●●●
850. 7585838 c.8343A>T p.L2781F missense 0.00000825●●●●●●
851. 7585849 c.8354A>G p.Y2785C missense 0.00001649●●●●●●
852. 7585858 c.8363C>T p.A2788V missense 0.00000824●●●●●●
853. 7585864 c.8369A>G p.N2790S missense 0.00000824●●●●●●
854. 7585867 c.8372G>A p.R2791H missense 0.00000824●●●●●●
855. 7585869 c.8374T>A p.S2792T missense 0.00003298●●●●●●
856. 7585885 c.8390T>C p.I2797T missense 0.00003299●●●●●●
857. 7585887 c.8392A>G p.T2798A missense 0.00000825●●●●●●
858. 7585896 c.8401C>G p.R2801G missense 0.00002475●●●●●●
859. 7585897 c.8402G>A p.R2801H missense 0.00000825●●●●●●
860. 7585899 c.8404C>T p.L2802F missense 0.00000825●●●●●●
861. 7585926 c.8431A>G p.K2811E missense 0.00000826●●●●●●
862. 7585936 c.8441C>G p.P2814R missense 0.00000827●●●●●●
863. 7585954 c.8459C>T p.S2820F missense 0.00000828●●●●●●
864. 7585957 c.8462C>T p.S2821L missense 0.00001656●●●●●●
865. 7585967 c.8472_8473insCTCCGGC p.Ser2825LeufsTer29 frameshift 0.00000828●●●●●●
866. 7585968 c.8473_8484delTCCCGCTCCGGC p.Ser2825_Gly2828del inframe 0.00004141●●●●●●
867. 7585971 c.8476C>T p.R2826C missense 0.00000834●●●●●●
868. 7585972 c.8477G>A p.R2826H missense 0.00000834●●●●●●
869. 7585977 c.8482G>A p.G2828S missense 0.00002503●●●●●●
870. 7585980 c.8485_8496delTCCCGCTCGGGA p.Ser2829_Gly2832del inframe 0.00005849●●●●●●
871. 7585987 c.8492C>T p.S2831L missense 0.00000835●●●●●●
872. 7585989 c.8494G>A p.G2832R missense 0.00000835●●●●●●
873. 7585990 c.8495G>T p.G2832V missense 0.00000835●●●●●●
874. 7585993 c.8498C>G p.S2833C missense 0.00001671●●●●●●
875. 7585993 c.8498_8499insCCCGCTCCGGA p.Ser2835_Gly2836insGlySerArgSer inframe 0.00000835●●●●●●
876. 7585995 c.8500C>T p.R2834C missense 0.00001672●●●●●●
877. 7586000 c.8505_8506insGGATCTCGCTCC p.Ser2835_Gly2836insGlySerArgSer inframe 0.00005011●●●●●●
878. 7586001 c.8506G>A p.G2836R missense 0.00000837●●●●●●
879. 7586002 c.8507G>A p.G2836E missense 0.00005016●●●●●●
880. 7586007 c.8512C>T p.R2838C missense 0.00001674●●●●●●
881. 7586011 c.8516C>G p.S2839C missense 0.00000838●●●●●●
882. 7586013 c.8518G>T p.G2840W missense 0.00000837●●●●●●
883. 7586026 c.8531G>T p.G2844V missense 0.00000836●●●●●●
884. 7586026 c.8531G>C p.G2844A missense 0.00000836●●●●●●
885. 7586032 c.8537G>A p.R2846Q missense 0.00000836●●●●●●
886. 7586055 c.8560G>C p.G2854R missense 0.00000836●●●●●●
887. 7586059 c.8564A>T p.N2855I missense 0.00000836●●●●●●
888. 7586061 c.8566T>A p.S2856T missense 0.00000837●●●●●●
889. 7586077 c.8582delC p.Tyr2862ThrfsTer21 frameshift 0.00002520●●●●●●
890. 7586085 c.8590T>C p.F2864L missense 0.00002525●●●●●●

* 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.