SELP missense variants in ExAC

SELP gene summary
SELP variants in

The table below lists the SELP 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. 169566313 c.1807G>A p.D603N missense 0.63864728●●●●●●
2. 169580885 c.992G>A p.S331N missense 0.20580327●●●●●●
3. 169565346 c.1918G>T p.V640L missense 0.12724425●●●●●●
4. 169563951 c.2266A>C p.T756P missense 0.08208191●●●●●●
5. 169582317 c.625G>A p.V209M missense 0.05950034●●●●●●
6. 169581595 c.821C>T p.T274I missense 0.00827645●●●●●●
7. 169566265 c.1855T>G p.S619A missense 0.00293840●●●●●●
8. 169578854 c.1221G>C p.Q407H missense 0.00158520●●●●●●
9. 169572345 c.1624G>A p.E542K missense 0.00158275●●●●●●
10. 169565246 c.2018A>G p.N673S missense 0.00158170●●●●●●
11. 169564037 c.2180G>A p.G727E missense 0.00121323●●●●●●
12. 169582878 c.535G>A p.G179R missense 0.00109655●●●●●●
13. 169566392 c.1728T>A p.F576L missense 0.00093591●●●●●●
14. 169576372 c.1334C>G p.A445G missense 0.00082521●●●●●●
15. 169565282 c.1982C>A p.T661N missense 0.00072484●●●●●●
16. 169565372 c.1892G>T p.G631V missense 0.00059473●●●●●●
17. 169578789 c.1286G>A p.R429Q missense 0.00057814●●●●●●
18. 169586577 c.170G>A p.R57H missense 0.00049537●●●●●●
19. 169580892 c.985G>A p.A329T missense 0.00047046●●●●●●
20. 169559396 c.2483C>T p.P828L missense 0.00041236●●●●●●
21. 169576207 c.1499C>T p.S500F missense 0.00038878●●●●●●
22. 169586281 c.466G>A p.A156T missense 0.00034332●●●●●●
23. 169562915 c.2335G>A p.V779M missense 0.00030552●●●●●●
24. 169576260 c.1446G>T p.L482F missense 0.00021491●●●●●●
25. 169578831 c.1244G>A p.R415H missense 0.00021455●●●●●●
26. 169578799 c.1276G>A p.D426N missense 0.00020634●●●●●●
27. 169578832 c.1243C>T p.R415C missense 0.00019804●●●●●●
28. 169581514 c.902C>T p.P301L missense 0.00018954●●●●●●
29. 169563945 c.2272G>A p.V758M missense 0.00018187●●●●●●
30. 169578921 c.1154C>T p.S385L missense 0.00017897●●●●●●
31. 169566310 c.1810A>T p.N604Y missense 0.00017333●●●●●●
32. 169580858 c.1019C>T p.P340L missense 0.00015658●●●●●●
33. 169580808 c.1069G>A p.G357S missense 0.00015656●●●●●●
34. 169572294 c.1675C>T p.R559C missense 0.00014879●●●●●●
35. 169588415 c.46G>A p.V16M missense 0.00014851●●●●●●
36. 169576333 c.1373G>A p.R458Q missense 0.00014146●●●●●●
37. 169578810 c.1265T>A p.L422Q missense 0.00012376●●●●●●
38. 169580777 c.1100G>A p.R367H missense 0.00012365●●●●●●
39. 169562881 c.2369C>T p.T790M missense 0.00010747●●●●●●
40. 169572405 c.1564A>T p.T522S missense 0.00009074●●●●●●
41. 169586515 c.232T>C p.Y78H missense 0.00009060●●●●●●
42. 169578840 c.1235G>A p.C412Y missense 0.00008253●●●●●●
43. 169586336 c.411G>C p.K137N missense 0.00008239●●●●●●
44. 169565193 c.2071C>A p.Q691K missense 0.00008237●●●●●●
45. 169582253 c.689G>T p.C230F missense 0.00007426●●●●●●
46. 169580754 c.1123T>C p.S375P missense 0.00007423●●●●●●
47. 169580789 c.1088T>C p.L363S missense 0.00007417●●●●●●
48. 169578892 c.1183G>A p.G395R missense 0.00006641●●●●●●
49. 169572434 c.1535C>A p.P512H missense 0.00006626●●●●●●
50. 169562885 c.2365G>T p.G789W missense 0.00006612●●●●●●
51. 169582271 c.671C>T p.S224L missense 0.00006603●●●●●●
52. 169563993 c.2224G>A p.G742S missense 0.00006603●●●●●●
53. 169562857 c.2393G>A p.R798H missense 0.00005796●●●●●●
54. 169563989 c.2228C>G p.S743C missense 0.00005778●●●●●●
55. 169581607 c.809G>A p.R270Q missense 0.00005772●●●●●●
56. 169576202 c.1504C>T p.P502S missense 0.00004965●●●●●●
57. 169576250 c.1456G>A p.G486R missense 0.00004959●●●●●●
58. 169581626 c.790C>A p.P264T missense 0.00004954●●●●●●
59. 169578852 c.1223A>G p.Y408C missense 0.00004953●●●●●●
60. 169565300 c.1964G>A p.C655Y missense 0.00004942●●●●●●
61. 169582931 c.482C>G p.A161G missense 0.00004127●●●●●●
62. 169559417 c.2462T>C p.F821S missense 0.00004122●●●●●●
63. 169586382 c.365C>G p.P122R missense 0.00004119●●●●●●
64. 169586614 c.133C>G p.H45D missense 0.00003329●●●●●●
65. 169576315 c.1391C>G p.P464R missense 0.00003317●●●●●●
66. 169588434 c.27G>T p.L9F missense 0.00003302●●●●●●
67. 169564040 c.2177A>G p.Y726C missense 0.00003301●●●●●●
68. 169572302 c.1667G>A p.R556Q missense 0.00003301●●●●●●
69. 169582887 c.526G>A p.E176K missense 0.00003298●●●●●●
70. 169580778 c.1099C>T p.R367C missense 0.00003297●●●●●●
71. 169565244 c.2020G>A p.A674T missense 0.00003295●●●●●●
72. 169576334 c.1372C>T p.R458W missense 0.00002497●●●●●●
73. 169576311 c.1395C>A p.F465L missense 0.00002487●●●●●●
74. 169566355 c.1765C>T p.R589C missense 0.00002483●●●●●●
75. 169586299 c.448T>A p.C150S missense 0.00002481●●●●●●
76. 169576225 c.1481C>A p.A494D missense 0.00002480●●●●●●
77. 169578866 c.1209G>C p.L403F missense 0.00002479●●●●●●
78. 169566307 c.1813G>A p.G605S missense 0.00002477●●●●●●
79. 169562917 c.2333C>T p.A778V missense 0.00002477●●●●●●
80. 169580747 c.1130C>A p.P377H missense 0.00002475●●●●●●
81. 169559418 c.2461T>C p.F821L missense 0.00002473●●●●●●
82. 169565342 c.1922A>G p.Q641R missense 0.00002473●●●●●●
83. 169580867 c.1010G>A p.C337Y missense 0.00002473●●●●●●
84. 169581596 c.820A>G p.T274A missense 0.00002473●●●●●●
85. 169565195 c.2069G>C p.G690A missense 0.00002471●●●●●●
86. 169586440 c.307T>C p.W103R missense 0.00002471●●●●●●
87. 169586497 c.250C>T p.P84S missense 0.00002471●●●●●●
88. 169586463 c.284G>A p.R95Q missense 0.00002471●●●●●●
89. 169586266 c.481G>C p.A161P missense 0.00001709●●●●●●
90. 169578922 c.1153T>A p.S385T missense 0.00001706●●●●●●
91. 169566235 c.1885T>G p.C629G missense 0.00001677●●●●●●
92. 169576354 c.1352T>C p.L451P missense 0.00001676●●●●●●
93. 169582178 c.764C>T p.P255L missense 0.00001666●●●●●●
94. 169582328 c.614T>A p.L205H missense 0.00001665●●●●●●
95. 169566381 c.1739A>G p.Q580R missense 0.00001664●●●●●●
96. 169578894 c.1181A>G p.H394R missense 0.00001662●●●●●●
97. 169566372 c.1748T>G p.L583R missense 0.00001660●●●●●●
98. 169586604 c.143C>T p.T48I missense 0.00001660●●●●●●
99. 169576313 c.1393T>C p.F465L missense 0.00001658●●●●●●
100. 169578886 c.1189A>G p.M397V missense 0.00001657●●●●●●
101. 169564101 c.2116G>A p.E706K missense 0.00001657●●●●●●
102. 169566354 c.1766G>A p.R589H missense 0.00001655●●●●●●
103. 169578783 c.1292A>G p.D431G missense 0.00001654●●●●●●
104. 169563939 c.2278A>G p.T760A missense 0.00001654●●●●●●
105. 169572423 c.1546C>A p.P516T missense 0.00001653●●●●●●
106. 169562890 c.2360T>C p.M787T missense 0.00001653●●●●●●
107. 169572425 c.1544G>A p.S515N missense 0.00001653●●●●●●
108. 169566330 c.1790C>T p.T597I missense 0.00001652●●●●●●
109. 169582289 c.653G>A p.G218E missense 0.00001652●●●●●●
110. 169580739 c.1138A>C p.T380P missense 0.00001652●●●●●●
111. 169581457 c.959A>G p.K320R missense 0.00001652●●●●●●
112. 169566281 c.1839T>G p.N613K missense 0.00001652●●●●●●
113. 169564076 c.2141C>T p.A714V missense 0.00001652●●●●●●
114. 169582221 c.721A>G p.K241E missense 0.00001652●●●●●●
115. 169578861 c.1214C>T p.A405V missense 0.00001652●●●●●●
116. 169562926 c.2324T>C p.F775S missense 0.00001651●●●●●●
117. 169581460 c.956G>A p.C319Y missense 0.00001651●●●●●●
118. 169586578 c.169C>T p.R57C missense 0.00001651●●●●●●
119. 169562951 c.2299A>G p.T767A missense 0.00001651●●●●●●
120. 169564028 c.2189G>T p.C730F missense 0.00001651●●●●●●
121. 169582245 c.697G>A p.G233R missense 0.00001651●●●●●●
122. 169578846 c.1229C>A p.T410N missense 0.00001651●●●●●●
123. 169578804 c.1271G>A p.G424E missense 0.00001650●●●●●●
124. 169580766 c.1111T>C p.S371P missense 0.00001649●●●●●●
125. 169580755 c.1122G>T p.W374C missense 0.00001649●●●●●●
126. 169559409 c.2470G>A p.A824T missense 0.00001649●●●●●●
127. 169582862 c.551C>T p.S184F missense 0.00001649●●●●●●
128. 169580876 c.1001C>T p.T334I missense 0.00001649●●●●●●
129. 169582887 c.526G>C p.E176Q missense 0.00001649●●●●●●
130. 169586559 c.188G>A p.R63H missense 0.00001649●●●●●●
131. 169582868 c.545C>T p.T182I missense 0.00001649●●●●●●
132. 169581506 c.910G>A p.V304M missense 0.00001648●●●●●●
133. 169565336 c.1928C>T p.P643L missense 0.00001648●●●●●●
134. 169586352 c.395T>C p.V132A missense 0.00001648●●●●●●
135. 169565334 c.1930G>C p.A644P missense 0.00001648●●●●●●
136. 169580782 c.1095G>A p.M365I missense 0.00001648●●●●●●
137. 169565342 c.1922A>C p.Q641P missense 0.00001648●●●●●●
138. 169572365 c.1604C>T p.T535I missense 0.00001648●●●●●●
139. 169580846 c.1031T>G p.F344C missense 0.00001648●●●●●●
140. 169565280 c.1984T>C p.F662L missense 0.00001647●●●●●●
141. 169565259 c.2005T>C p.Y669H missense 0.00001647●●●●●●
142. 169586493 c.254A>C p.Y85S missense 0.00001647●●●●●●
143. 169582352 c.590T>G p.V197G missense 0.00000861●●●●●●
144. 169578925 c.1150A>G p.I384V missense 0.00000856●●●●●●
145. 169582347 c.595G>A p.E199K missense 0.00000847●●●●●●
146. 169578916 c.1159G>A p.E387K missense 0.00000846●●●●●●
147. 169586638 c.109A>G p.K37E missense 0.00000845●●●●●●
148. 169586274 c.473G>A p.C158Y missense 0.00000845●●●●●●
149. 169566402 c.1718C>G p.P573R missense 0.00000842●●●●●●
150. 169582167 c.775G>A p.A259T missense 0.00000841●●●●●●
151. 169576358 c.1348G>T p.D450Y missense 0.00000841●●●●●●
152. 169566396 c.1724T>C p.L575P missense 0.00000838●●●●●●
153. 169576345 c.1361C>T p.P454L missense 0.00000835●●●●●●
154. 169586284 c.463C>T p.H155Y missense 0.00000834●●●●●●
155. 169578760 c.1315C>A p.P439T missense 0.00000834●●●●●●
156. 169566388 c.1732C>T p.P578S missense 0.00000834●●●●●●
157. 169560664 c.2438G>A p.S813N missense 0.00000834●●●●●●
158. 169572273 c.1696A>G p.M566V missense 0.00000833●●●●●●
159. 169566247 c.1873A>G p.T625A missense 0.00000833●●●●●●
160. 169566249 c.1871C>T p.A624V missense 0.00000832●●●●●●
161. 169576330 c.1376T>C p.V459A missense 0.00000831●●●●●●
162. 169576326 c.1380C>G p.N460K missense 0.00000831●●●●●●
163. 169572284 c.1685A>G p.D562G missense 0.00000830●●●●●●
164. 169576324 c.1382G>T p.C461F missense 0.00000830●●●●●●
165. 169578767 c.1308G>T p.W436C missense 0.00000830●●●●●●
166. 169576319 c.1387C>T p.H463Y missense 0.00000829●●●●●●
167. 169576311 c.1395C>G p.F465L missense 0.00000829●●●●●●
168. 169576310 c.1396G>C p.G466R missense 0.00000829●●●●●●
169. 169572434 c.1535C>T p.P512L missense 0.00000828●●●●●●
170. 169562853 c.2397C>A p.F799L missense 0.00000828●●●●●●
171. 169578777 c.1298T>C p.L433S missense 0.00000828●●●●●●
172. 169562858 c.2392C>T p.R798C missense 0.00000828●●●●●●
173. 169580909 c.968A>G p.Q323R missense 0.00000827●●●●●●
174. 169572293 c.1676G>A p.R559H missense 0.00000827●●●●●●
175. 169582199 c.743G>A p.G248E missense 0.00000827●●●●●●
176. 169564094 c.2123A>C p.H708P missense 0.00000827●●●●●●
177. 169566267 c.1853C>T p.T618I missense 0.00000827●●●●●●
178. 169580733 c.1144G>A p.E382K missense 0.00000827●●●●●●
179. 169588375 c.86T>C p.L29P missense 0.00000827●●●●●●
180. 169582311 c.631A>T p.M211L missense 0.00000827●●●●●●
181. 169576209 c.1497T>A p.N499K missense 0.00000827●●●●●●
182. 169572424 c.1545C>A p.S515R missense 0.00000827●●●●●●
183. 169566274 c.1846T>A p.C616S missense 0.00000827●●●●●●
184. 169576267 c.1439A>C p.E480A missense 0.00000827●●●●●●
185. 169586586 c.161A>C p.N54T missense 0.00000827●●●●●●
186. 169576219 c.1487G>A p.G496E missense 0.00000827●●●●●●
187. 169586590 c.157T>G p.W53G missense 0.00000827●●●●●●
188. 169578877 c.1198T>C p.S400P missense 0.00000827●●●●●●
189. 169562875 c.2375T>C p.L792P missense 0.00000827●●●●●●
190. 169562872 c.2378C>T p.A793V missense 0.00000827●●●●●●
191. 169582301 c.641G>A p.S214N missense 0.00000826●●●●●●
192. 169566282 c.1838A>C p.N613T missense 0.00000826●●●●●●
193. 169572418 c.1551G>C p.Q517H missense 0.00000826●●●●●●
194. 169578862 c.1213G>A p.A405T missense 0.00000826●●●●●●
195. 169562948 c.2302A>G p.I768V missense 0.00000826●●●●●●
196. 169562905 c.2345C>T p.T782M missense 0.00000826●●●●●●
197. 169581629 c.787C>T p.P263S missense 0.00000826●●●●●●
198. 169582290 c.652G>A p.G218R missense 0.00000826●●●●●●
199. 169566328 c.1792T>A p.C598S missense 0.00000826●●●●●●
200. 169572299 c.1670C>T p.S557L missense 0.00000826●●●●●●
201. 169562901 c.2349A>G p.I783M missense 0.00000826●●●●●●
202. 169566299 c.1821G>C p.K607N missense 0.00000826●●●●●●
203. 169562887 c.2363G>A p.G788D missense 0.00000826●●●●●●
204. 169582212 c.730T>A p.C244S missense 0.00000826●●●●●●
205. 169582298 c.644A>G p.H215R missense 0.00000826●●●●●●
206. 169562915 c.2335G>T p.V779L missense 0.00000826●●●●●●
207. 169586584 c.163A>G p.I55V missense 0.00000826●●●●●●
208. 169586305 c.442G>C p.E148Q missense 0.00000826●●●●●●
209. 169562909 c.2341T>C p.S781P missense 0.00000826●●●●●●
210. 169582215 c.727G>C p.E243Q missense 0.00000826●●●●●●
211. 169582292 c.650T>C p.L217P missense 0.00000826●●●●●●
212. 169582824 c.589G>A p.V197M missense 0.00000826●●●●●●
213. 169566318 c.1802C>T p.S601F missense 0.00000826●●●●●●
214. 169566307 c.1813G>T p.G605C missense 0.00000826●●●●●●
215. 169562899 c.2351G>A p.G784D missense 0.00000826●●●●●●
216. 169564061 c.2156A>G p.N719S missense 0.00000826●●●●●●
217. 169563999 c.2218C>T p.L740F missense 0.00000825●●●●●●
218. 169586560 c.187C>T p.R63C missense 0.00000825●●●●●●
219. 169559399 c.2480A>G p.D827G missense 0.00000825●●●●●●
220. 169582845 c.568T>C p.Y190H missense 0.00000825●●●●●●
221. 169582263 c.679A>T p.S227C missense 0.00000825●●●●●●
222. 169559429 c.2450C>T p.T817I missense 0.00000825●●●●●●
223. 169582893 c.520T>C p.C174R missense 0.00000825●●●●●●
224. 169564007 c.2210G>A p.G737D missense 0.00000825●●●●●●
225. 169578849 c.1226A>T p.D409V missense 0.00000825●●●●●●
226. 169566309 c.1811A>G p.N604S missense 0.00000825●●●●●●
227. 169582268 c.674A>G p.Q225R missense 0.00000825●●●●●●
228. 169559430 c.2449A>G p.T817A missense 0.00000825●●●●●●
229. 169572395 c.1574A>G p.Q525R missense 0.00000825●●●●●●
230. 169580747 c.1130C>G p.P377R missense 0.00000825●●●●●●
231. 169572306 c.1663A>T p.T555S missense 0.00000825●●●●●●
232. 169564054 c.2163G>C p.W721C missense 0.00000825●●●●●●
233. 169566309 c.1811A>T p.N604I missense 0.00000825●●●●●●
234. 169588406 c.55G>A p.G19R missense 0.00000825●●●●●●
235. 169578852 c.1223A>T p.Y408F missense 0.00000825●●●●●●
236. 169580762 c.1115G>A p.G372E missense 0.00000825●●●●●●
237. 169564045 c.2172C>G p.F724L missense 0.00000825●●●●●●
238. 169578814 c.1261A>G p.M421V missense 0.00000825●●●●●●
239. 169572407 c.1562T>C p.M521T missense 0.00000825●●●●●●
240. 169572314 c.1655T>C p.L552S missense 0.00000825●●●●●●
241. 169564032 c.2185A>G p.I729V missense 0.00000825●●●●●●
242. 169588432 c.29A>G p.Y10C missense 0.00000825●●●●●●
243. 169582269 c.673C>A p.Q225K missense 0.00000825●●●●●●
244. 169586428 c.319A>G p.K107E missense 0.00000824●●●●●●
245. 169586356 c.391T>C p.C131R missense 0.00000824●●●●●●
246. 169580773 c.1104C>G p.C368W missense 0.00000824●●●●●●
247. 169582890 c.523C>T p.L175F missense 0.00000824●●●●●●
248. 169580802 c.1075A>G p.R359G missense 0.00000824●●●●●●
249. 169572372 c.1597A>G p.K533E missense 0.00000824●●●●●●
250. 169572346 c.1623C>G p.D541E missense 0.00000824●●●●●●
251. 169580873 c.1004T>C p.M335T missense 0.00000824●●●●●●
252. 169586463 c.284G>T p.R95L missense 0.00000824●●●●●●
253. 169581532 c.884G>C p.G295A missense 0.00000824●●●●●●
254. 169581505 c.911T>C p.V304A missense 0.00000824●●●●●●
255. 169565328 c.1936A>G p.T646A missense 0.00000824●●●●●●
256. 169580849 c.1028C>A p.A343D missense 0.00000824●●●●●●
257. 169565232 c.2032C>T p.L678F missense 0.00000824●●●●●●
258. 169586331 c.416C>T p.P139L missense 0.00000824●●●●●●
259. 169580868 c.1009T>A p.C337S missense 0.00000824●●●●●●
260. 169582879 c.534C>G p.I178M missense 0.00000824●●●●●●
261. 169572330 c.1639T>C p.S547P missense 0.00000824●●●●●●
262. 169586559 c.188G>T p.R63L missense 0.00000824●●●●●●
263. 169565190 c.2074T>C p.W692R missense 0.00000824●●●●●●
264. 169581580 c.836C>A p.A279E missense 0.00000824●●●●●●
265. 169586517 c.230A>G p.D77G missense 0.00000824●●●●●●
266. 169565268 c.1996A>T p.T666S missense 0.00000824●●●●●●
267. 169586446 c.301T>C p.W101R missense 0.00000824●●●●●●
268. 169586359 c.388G>A p.D130N missense 0.00000824●●●●●●
269. 169565280 c.1984T>A p.F662I missense 0.00000824●●●●●●
270. 169580807 c.1070G>A p.G357D missense 0.00000824●●●●●●
271. 169572374 c.1595A>G p.Y532C missense 0.00000824●●●●●●
272. 169565222 c.2042A>C p.D681A missense 0.00000824●●●●●●
273. 169572362 c.1607G>T p.C536F missense 0.00000824●●●●●●
274. 169565201 c.2063C>T p.P688L missense 0.00000824●●●●●●
275. 169586406 c.341C>T p.A114V missense 0.00000824●●●●●●
276. 169586469 c.278G>A p.G93E missense 0.00000824●●●●●●
277. 169581551 c.865A>G p.S289G missense 0.00000824●●●●●●
278. 169586337 c.410A>G p.K137R missense 0.00000824●●●●●●
279. 169580871 c.1006G>A p.D336N missense 0.00000824●●●●●●
280. 169565309 c.1955C>A p.T652N missense 0.00000824●●●●●●
281. 169580850 c.1027G>A p.A343T missense 0.00000824●●●●●●
282. 169572331 c.1638G>C p.L546F missense 0.00000824●●●●●●
283. 169580792 c.1085G>T p.G362V missense 0.00000824●●●●●●
284. 169581590 c.826C>T p.L276F missense 0.00000824●●●●●●
285. 169586521 c.226A>G p.I76V missense 0.00000824●●●●●●
286. 169565312 c.1952G>C p.G651A missense 0.00000824●●●●●●
287. 169565276 c.1988G>A p.G663D missense 0.00000824●●●●●●
288. 169582860 c.553T>A p.C185S missense 0.00000824●●●●●●
289. 169586449 c.298A>C p.T100P missense 0.00000824●●●●●●
290. 169581514 c.902C>G p.P301R missense 0.00000824●●●●●●
291. 169581482 c.934T>G p.W312G missense 0.00000824●●●●●●
292. 169572381 c.1588T>C p.S530P missense 0.00000824●●●●●●
293. 169580820 c.1057G>A p.E353K missense 0.00000824●●●●●●
294. 169565223 c.2041G>A p.D681N missense 0.00000824●●●●●●
295. 169565208 c.2056T>A p.C686S missense 0.00000824●●●●●●
296. 169586470 c.277G>T p.G93W missense 0.00000824●●●●●●
297. 169581563 c.853C>A p.Q285K missense 0.00000824●●●●●●
298. 169559420 c.2459T>A p.V820D missense 0.00000824●●●●●●
299. 169586353 c.394G>A p.V132M missense 0.00000824●●●●●●
300. 169565244 c.2020G>T p.A674S missense 0.00000824●●●●●●
301. 169572341 c.1628G>A p.G543E missense 0.00000824●●●●●●
302. 169565168 c.2096G>T p.C699F missense 0.00000824●●●●●●
303. 169580798 c.1079T>A p.V360E missense 0.00000824●●●●●●
304. 169582862 c.551C>A p.S184Y missense 0.00000824●●●●●●
305. 169581496 c.920C>T p.T307I missense 0.00000824●●●●●●
306. 169565318 c.1946G>A p.G649E missense 0.00000824●●●●●●
307. 169559414 c.2465C>T p.T822I missense 0.00000824●●●●●●
308. 169586541 c.206C>G p.A69G missense 0.00000824●●●●●●
309. 169586460 c.287A>G p.K96R missense 0.00000824●●●●●●
310. 169581526 c.890C>T p.A297V missense 0.00000824●●●●●●
311. 169565208 c.2056T>G p.C686G missense 0.00000824●●●●●●
312. 169586325 c.422C>T p.A141V missense 0.00000824●●●●●●
313. 169580856 c.1021C>T p.L341F missense 0.00000824●●●●●●
314. 169565225 c.2039G>A p.G680E missense 0.00000824●●●●●●
315. 169565351 c.1913C>T p.P638L missense 0.00000824●●●●●●
316. 169559423 c.2456G>C p.G819A missense 0.00000824●●●●●●
317. 169586508 c.239A>G p.N80S missense 0.00000824●●●●●●
318. 169586474 c.273G>T p.W91C missense 0.00000824●●●●●●
319. 169581574 c.842C>G p.A281G 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.