SELP variants in ExAC

SELP gene summary
SELP variants in

The table below lists the SELP 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. 169576375 c.1334-3T>C splice site 0.00209075●●●●●●
9. 169578854 c.1221G>C p.Q407H missense 0.00158520●●●●●●
10. 169572345 c.1624G>A p.E542K missense 0.00158275●●●●●●
11. 169565246 c.2018A>G p.N673S missense 0.00158170●●●●●●
12. 169581608 c.808C>T p.R270X nonsense 0.00142669●●●●●●
13. 169564037 c.2180G>A p.G727E missense 0.00121323●●●●●●
14. 169582878 c.535G>A p.G179R missense 0.00109655●●●●●●
15. 169566392 c.1728T>A p.F576L missense 0.00093591●●●●●●
16. 169576372 c.1334C>G p.A445G missense 0.00082521●●●●●●
17. 169565282 c.1982C>A p.T661N missense 0.00072484●●●●●●
18. 169565372 c.1892G>T p.G631V missense 0.00059473●●●●●●
19. 169578789 c.1286G>A p.R429Q missense 0.00057814●●●●●●
20. 169586577 c.170G>A p.R57H missense 0.00049537●●●●●●
21. 169580892 c.985G>A p.A329T missense 0.00047046●●●●●●
22. 169559396 c.2483C>T p.P828L missense 0.00041236●●●●●●
23. 169580893 c.984_985insAA p.A329Kfs*33 frameshift 0.00039618●●●●●●
24. 169576207 c.1499C>T p.S500F missense 0.00038878●●●●●●
25. 169586281 c.466G>A p.A156T missense 0.00034332●●●●●●
26. 169562915 c.2335G>A p.V779M missense 0.00030552●●●●●●
27. 169560695 c.2408-1G>C essential splice site 0.00026635●●●●●●
28. 169560661 c.2438+3A>G splice site 0.00023358●●●●●●
29. 169576260 c.1446G>T p.L482F missense 0.00021491●●●●●●
30. 169578831 c.1244G>A p.R415H missense 0.00021455●●●●●●
31. 169578799 c.1276G>A p.D426N missense 0.00020634●●●●●●
32. 169578832 c.1243C>T p.R415C missense 0.00019804●●●●●●
33. 169581514 c.902C>T p.P301L missense 0.00018954●●●●●●
34. 169586265 c.481+1G>A essential splice site 0.00018838●●●●●●
35. 169563945 c.2272G>A p.V758M missense 0.00018187●●●●●●
36. 169578921 c.1154C>T p.S385L missense 0.00017897●●●●●●
37. 169559382 c.*1+3A>G splice site 0.00017344●●●●●●
38. 169566310 c.1810A>T p.N604Y missense 0.00017333●●●●●●
39. 169580858 c.1019C>T p.P340L missense 0.00015658●●●●●●
40. 169580808 c.1069G>A p.G357S missense 0.00015656●●●●●●
41. 169572289 c.1680G>A p.W560X nonsense 0.00014904●●●●●●
42. 169572294 c.1675C>T p.R559C missense 0.00014879●●●●●●
43. 169588415 c.46G>A p.V16M missense 0.00014851●●●●●●
44. 169576333 c.1373G>A p.R458Q missense 0.00014146●●●●●●
45. 169582825 c.588C>T p.Y196Y splice site 0.00014032●●●●●●
46. 169578810 c.1265T>A p.L422Q missense 0.00012376●●●●●●
47. 169580777 c.1100G>A p.R367H missense 0.00012365●●●●●●
48. 169562881 c.2369C>T p.T790M missense 0.00010747●●●●●●
49. 169572405 c.1564A>T p.T522S missense 0.00009074●●●●●●
50. 169586515 c.232T>C p.Y78H missense 0.00009060●●●●●●
51. 169578840 c.1235G>A p.C412Y missense 0.00008253●●●●●●
52. 169586336 c.411G>C p.K137N missense 0.00008239●●●●●●
53. 169565193 c.2071C>A p.Q691K missense 0.00008237●●●●●●
54. 169572261 c.1705+3A>T splice site 0.00007558●●●●●●
55. 169582253 c.689G>T p.C230F missense 0.00007426●●●●●●
56. 169580754 c.1123T>C p.S375P missense 0.00007423●●●●●●
57. 169580789 c.1088T>C p.L363S missense 0.00007417●●●●●●
58. 169578892 c.1183G>A p.G395R missense 0.00006641●●●●●●
59. 169572434 c.1535C>A p.P512H missense 0.00006626●●●●●●
60. 169562885 c.2365G>T p.G789W missense 0.00006612●●●●●●
61. 169563993 c.2224G>A p.G742S missense 0.00006603●●●●●●
62. 169582271 c.671C>T p.S224L missense 0.00006603●●●●●●
63. 169578738 c.1333+4C>T splice site 0.00005979●●●●●●
64. 169576182 c.1519+5G>C splice site 0.00005822●●●●●●
65. 169562857 c.2393G>A p.R798H missense 0.00005796●●●●●●
66. 169563989 c.2228C>G p.S743C missense 0.00005778●●●●●●
67. 169581607 c.809G>A p.R270Q missense 0.00005772●●●●●●
68. 169586408 c.339_340insCCA p.Glu113_Ala114insPro inframe 0.00005766●●●●●●
69. 169576202 c.1504C>T p.P502S missense 0.00004965●●●●●●
70. 169576250 c.1456G>A p.G486R missense 0.00004959●●●●●●
71. 169581626 c.790C>A p.P264T missense 0.00004954●●●●●●
72. 169562942 c.2308_2311delGAAG p.Glu770ProfsTer2 frameshift 0.00004954●●●●●●
73. 169578852 c.1223A>G p.Y408C missense 0.00004953●●●●●●
74. 169565300 c.1964G>A p.C655Y missense 0.00004942●●●●●●
75. 169566418 c.1706-4C>G splice site 0.00004269●●●●●●
76. 169576340 c.1366G>T p.E456X nonsense 0.00004166●●●●●●
77. 169582931 c.482C>G p.A161G missense 0.00004127●●●●●●
78. 169559417 c.2462T>C p.F821S missense 0.00004122●●●●●●
79. 169586464 c.283C>T p.R95X nonsense 0.00004119●●●●●●
80. 169586382 c.365C>G p.P122R missense 0.00004119●●●●●●
81. 169586660 c.95-8T>C splice site 0.00003446●●●●●●
82. 169586614 c.133C>G p.H45D missense 0.00003329●●●●●●
83. 169580922 c.962-7T>A splice site 0.00003320●●●●●●
84. 169576315 c.1391C>G p.P464R missense 0.00003317●●●●●●
85. 169588434 c.27G>T p.L9F missense 0.00003302●●●●●●
86. 169572302 c.1667G>A p.R556Q missense 0.00003301●●●●●●
87. 169564040 c.2177A>G p.Y726C missense 0.00003301●●●●●●
88. 169582887 c.526G>A p.E176K missense 0.00003298●●●●●●
89. 169580778 c.1099C>T p.R367C missense 0.00003297●●●●●●
90. 169565244 c.2020G>A p.A674T missense 0.00003295●●●●●●
91. 169576334 c.1372C>T p.R458W missense 0.00002497●●●●●●
92. 169588362 c.94+5dupA splice site 0.00002492●●●●●●
93. 169576311 c.1395C>A p.F465L missense 0.00002487●●●●●●
94. 169566355 c.1765C>T p.R589C missense 0.00002483●●●●●●
95. 169586299 c.448T>A p.C150S missense 0.00002481●●●●●●
96. 169576225 c.1481C>A p.A494D missense 0.00002480●●●●●●
97. 169578866 c.1209G>C p.L403F missense 0.00002479●●●●●●
98. 169566307 c.1813G>A p.G605S missense 0.00002477●●●●●●
99. 169562917 c.2333C>T p.A778V missense 0.00002477●●●●●●
100. 169580747 c.1130C>A p.P377H missense 0.00002475●●●●●●
101. 169572303 c.1666C>T p.R556X nonsense 0.00002475●●●●●●
102. 169581596 c.820A>G p.T274A missense 0.00002473●●●●●●
103. 169580867 c.1010G>A p.C337Y missense 0.00002473●●●●●●
104. 169565342 c.1922A>G p.Q641R missense 0.00002473●●●●●●
105. 169559418 c.2461T>C p.F821L missense 0.00002473●●●●●●
106. 169586440 c.307T>C p.W103R missense 0.00002471●●●●●●
107. 169586463 c.284G>A p.R95Q missense 0.00002471●●●●●●
108. 169586497 c.250C>T p.P84S missense 0.00002471●●●●●●
109. 169565195 c.2069G>C p.G690A missense 0.00002471●●●●●●
110. 169586260 c.481+6G>C splice site 0.00001729●●●●●●
111. 169586266 c.481G>C p.A161P missense 0.00001709●●●●●●
112. 169578922 c.1153T>A p.S385T missense 0.00001706●●●●●●
113. 169578741 c.1333+1G>A essential splice site 0.00001702●●●●●●
114. 169566224 c.1891+5T>A splice site 0.00001697●●●●●●
115. 169582166 c.775+1G>C essential splice site 0.00001684●●●●●●
116. 169566235 c.1885T>G p.C629G missense 0.00001677●●●●●●
117. 169576354 c.1352T>C p.L451P missense 0.00001676●●●●●●
118. 169572452 c.1520-3T>C splice site 0.00001670●●●●●●
119. 169578759 c.1316dupC p.Ala440SerfsTer17 frameshift 0.00001669●●●●●●
120. 169582178 c.764C>T p.P255L missense 0.00001666●●●●●●
121. 169582328 c.614T>A p.L205H missense 0.00001665●●●●●●
122. 169566381 c.1739A>G p.Q580R missense 0.00001664●●●●●●
123. 169578894 c.1181A>G p.H394R missense 0.00001662●●●●●●
124. 169576185 c.1519+2dupT essential splice site 0.00001662●●●●●●
125. 169566254 c.1866G>A p.W622X nonsense 0.00001660●●●●●●
126. 169566372 c.1748T>G p.L583R missense 0.00001660●●●●●●
127. 169586604 c.143C>T p.T48I missense 0.00001660●●●●●●
128. 169576313 c.1393T>C p.F465L missense 0.00001658●●●●●●
129. 169564101 c.2116G>A p.E706K missense 0.00001657●●●●●●
130. 169578886 c.1189A>G p.M397V missense 0.00001657●●●●●●
131. 169581639 c.777T>C splice site 0.00001656●●●●●●
132. 169566354 c.1766G>A p.R589H missense 0.00001655●●●●●●
133. 169578783 c.1292A>G p.D431G missense 0.00001654●●●●●●
134. 169563939 c.2278A>G p.T760A missense 0.00001654●●●●●●
135. 169581635 c.781C>T p.Q261X nonsense 0.00001654●●●●●●
136. 169572425 c.1544G>A p.S515N missense 0.00001653●●●●●●
137. 169572423 c.1546C>A p.P516T missense 0.00001653●●●●●●
138. 169562890 c.2360T>C p.M787T missense 0.00001653●●●●●●
139. 169566281 c.1839T>G p.N613K missense 0.00001652●●●●●●
140. 169564076 c.2141C>T p.A714V missense 0.00001652●●●●●●
141. 169578861 c.1214C>T p.A405V missense 0.00001652●●●●●●
142. 169566330 c.1790C>T p.T597I missense 0.00001652●●●●●●
143. 169581457 c.959A>G p.K320R missense 0.00001652●●●●●●
144. 169582289 c.653G>A p.G218E missense 0.00001652●●●●●●
145. 169580739 c.1138A>C p.T380P missense 0.00001652●●●●●●
146. 169582221 c.721A>G p.K241E missense 0.00001652●●●●●●
147. 169586578 c.169C>T p.R57C missense 0.00001651●●●●●●
148. 169578846 c.1229C>A p.T410N missense 0.00001651●●●●●●
149. 169562926 c.2324T>C p.F775S missense 0.00001651●●●●●●
150. 169581460 c.956G>A p.C319Y missense 0.00001651●●●●●●
151. 169562951 c.2299A>G p.T767A missense 0.00001651●●●●●●
152. 169582245 c.697G>A p.G233R missense 0.00001651●●●●●●
153. 169564028 c.2189G>T p.C730F missense 0.00001651●●●●●●
154. 169578804 c.1271G>A p.G424E missense 0.00001650●●●●●●
155. 169580755 c.1122G>T p.W374C missense 0.00001649●●●●●●
156. 169580876 c.1001C>T p.T334I missense 0.00001649●●●●●●
157. 169559409 c.2470G>A p.A824T missense 0.00001649●●●●●●
158. 169582862 c.551C>T p.S184F missense 0.00001649●●●●●●
159. 169582909 c.504C>A p.C168X nonsense 0.00001649●●●●●●
160. 169580766 c.1111T>C p.S371P missense 0.00001649●●●●●●
161. 169586559 c.188G>A p.R63H missense 0.00001649●●●●●●
162. 169582887 c.526G>C p.E176Q missense 0.00001649●●●●●●
163. 169582868 c.545C>T p.T182I missense 0.00001649●●●●●●
164. 169565334 c.1930G>C p.A644P missense 0.00001648●●●●●●
165. 169565342 c.1922A>C p.Q641P missense 0.00001648●●●●●●
166. 169586352 c.395T>C p.V132A missense 0.00001648●●●●●●
167. 169580846 c.1031T>G p.F344C missense 0.00001648●●●●●●
168. 169580782 c.1095G>A p.M365I missense 0.00001648●●●●●●
169. 169565336 c.1928C>T p.P643L missense 0.00001648●●●●●●
170. 169581506 c.910G>A p.V304M missense 0.00001648●●●●●●
171. 169572365 c.1604C>T p.T535I missense 0.00001648●●●●●●
172. 169586493 c.254A>C p.Y85S missense 0.00001647●●●●●●
173. 169565280 c.1984T>C p.F662L missense 0.00001647●●●●●●
174. 169565259 c.2005T>C p.Y669H missense 0.00001647●●●●●●
175. 169582356 c.590-4G>T splice site 0.00000868●●●●●●
176. 169586261 c.481+5G>T splice site 0.00000862●●●●●●
177. 169582352 c.590T>G p.V197G missense 0.00000861●●●●●●
178. 169586262 c.481+4G>A splice site 0.00000860●●●●●●
179. 169578735 c.1333+7T>C splice site 0.00000858●●●●●●
180. 169578925 c.1150A>G p.I384V missense 0.00000856●●●●●●
181. 169582159 c.775+8G>A splice site 0.00000850●●●●●●
182. 169582347 c.595G>A p.E199K missense 0.00000847●●●●●●
183. 169586645 c.102_105delAAAC p.Asn35ArgfsTer32 frameshift 0.00000847●●●●●●
184. 169578916 c.1159G>A p.E387K missense 0.00000846●●●●●●
185. 169566227 c.1891+2T>A essential splice site 0.00000846●●●●●●
186. 169586274 c.473G>A p.C158Y missense 0.00000845●●●●●●
187. 169566228 c.1891+1G>T essential splice site 0.00000845●●●●●●
188. 169586638 c.109A>G p.K37E missense 0.00000845●●●●●●
189. 169572261 c.1705+3_1705+4delAG splice site 0.00000843●●●●●●
190. 169566402 c.1718C>G p.P573R missense 0.00000842●●●●●●
191. 169582167 c.775G>A p.A259T missense 0.00000841●●●●●●
192. 169576358 c.1348G>T p.D450Y missense 0.00000841●●●●●●
193. 169566233 c.1887C>A p.C629X nonsense 0.00000841●●●●●●
194. 169566396 c.1724T>C p.L575P missense 0.00000838●●●●●●
195. 169572456 c.1520-7A>C splice site 0.00000837●●●●●●
196. 169576345 c.1361C>T p.P454L missense 0.00000835●●●●●●
197. 169564119 c.2102-4G>A splice site 0.00000835●●●●●●
198. 169566388 c.1732C>T p.P578S missense 0.00000834●●●●●●
199. 169586284 c.463C>T p.H155Y missense 0.00000834●●●●●●
200. 169578760 c.1315C>A p.P439T missense 0.00000834●●●●●●
201. 169560664 c.2438G>A p.S813N missense 0.00000834●●●●●●
202. 169576179 c.1519+8T>A splice site 0.00000833●●●●●●
203. 169564114 c.2103T>A splice site 0.00000833●●●●●●
204. 169566247 c.1873A>G p.T625A missense 0.00000833●●●●●●
205. 169572273 c.1696A>G p.M566V missense 0.00000833●●●●●●
206. 169560697 c.2408-3delT splice site 0.00000832●●●●●●
207. 169576180 c.1519+7G>A splice site 0.00000832●●●●●●
208. 169560693 c.2409delT p.D803Efs*7 frameshift 0.00000832●●●●●●
209. 169566249 c.1871C>T p.A624V missense 0.00000832●●●●●●
210. 169566252 c.1868C>A p.S623X nonsense 0.00000831●●●●●●
211. 169562835 c.2407+8G>A splice site 0.00000831●●●●●●
212. 169578767 c.1308dupG p.Thr437AspfsTer20 frameshift 0.00000831●●●●●●
213. 169576326 c.1380C>G p.N460K missense 0.00000831●●●●●●
214. 169576330 c.1376T>C p.V459A missense 0.00000831●●●●●●
215. 169588360 c.94+7T>C splice site 0.00000831●●●●●●
216. 169576324 c.1382G>T p.C461F missense 0.00000830●●●●●●
217. 169588364 c.94+3A>G splice site 0.00000830●●●●●●
218. 169576188 c.1518A>G splice site 0.00000830●●●●●●
219. 169562838 c.2407+5A>G splice site 0.00000830●●●●●●
220. 169563922 c.2287+8T>C splice site 0.00000830●●●●●●
221. 169578767 c.1308G>T p.W436C missense 0.00000830●●●●●●
222. 169572284 c.1685A>G p.D562G missense 0.00000830●●●●●●
223. 169576311 c.1395C>G p.F465L missense 0.00000829●●●●●●
224. 169580920 c.962-5T>C splice site 0.00000829●●●●●●
225. 169588367 c.94G>T p.E32X nonsense 0.00000829●●●●●●
226. 169576310 c.1396G>C p.G466R missense 0.00000829●●●●●●
227. 169563926 c.2287+4C>T splice site 0.00000829●●●●●●
228. 169582192 c.750G>A p.W250X nonsense 0.00000829●●●●●●
229. 169576319 c.1387C>T p.H463Y missense 0.00000829●●●●●●
230. 169578777 c.1298T>C p.L433S missense 0.00000828●●●●●●
231. 169562853 c.2397C>A p.F799L missense 0.00000828●●●●●●
232. 169572434 c.1535C>T p.P512L missense 0.00000828●●●●●●
233. 169562858 c.2392C>T p.R798C missense 0.00000828●●●●●●
234. 169580729 c.1147+1G>A essential splice site 0.00000828●●●●●●
235. 169562858 c.2392delC p.Arg798ValfsTer12 frameshift 0.00000828●●●●●●
236. 169576272 c.1434C>A p.C478X nonsense 0.00000827●●●●●●
237. 169582199 c.743G>A p.G248E missense 0.00000827●●●●●●
238. 169586590 c.157T>G p.W53G missense 0.00000827●●●●●●
239. 169572293 c.1676G>A p.R559H missense 0.00000827●●●●●●
240. 0 c.*1+8C>A splice site 0.00000827●●●●●●
241. 169578877 c.1198T>C p.S400P missense 0.00000827●●●●●●
242. 169566267 c.1853C>T p.T618I missense 0.00000827●●●●●●
243. 169580909 c.968A>G p.Q323R missense 0.00000827●●●●●●
244. 169572424 c.1545C>A p.S515R missense 0.00000827●●●●●●
245. 169562872 c.2378C>T p.A793V missense 0.00000827●●●●●●
246. 169588375 c.86T>C p.L29P missense 0.00000827●●●●●●
247. 169564086 c.2131A>T p.K711X nonsense 0.00000827●●●●●●
248. 169581454 c.961+1G>A essential splice site 0.00000827●●●●●●
249. 169576209 c.1497T>A p.N499K missense 0.00000827●●●●●●
250. 169586586 c.161A>C p.N54T missense 0.00000827●●●●●●
251. 169581452 c.961+3G>C splice site 0.00000827●●●●●●
252. 169582311 c.631A>T p.M211L missense 0.00000827●●●●●●
253. 169565378 c.1892-6C>T splice site 0.00000827●●●●●●
254. 169566274 c.1846T>A p.C616S missense 0.00000827●●●●●●
255. 169576267 c.1439A>C p.E480A missense 0.00000827●●●●●●
256. 169580733 c.1144G>A p.E382K missense 0.00000827●●●●●●
257. 169564094 c.2123A>C p.H708P missense 0.00000827●●●●●●
258. 169562875 c.2375T>C p.L792P missense 0.00000827●●●●●●
259. 169576219 c.1487G>A p.G496E missense 0.00000827●●●●●●
260. 169562899 c.2351G>A p.G784D missense 0.00000826●●●●●●
261. 169582290 c.652G>A p.G218R missense 0.00000826●●●●●●
262. 169562909 c.2341T>C p.S781P missense 0.00000826●●●●●●
263. 169582301 c.641G>A p.S214N missense 0.00000826●●●●●●
264. 169566318 c.1802C>T p.S601F missense 0.00000826●●●●●●
265. 169562942 c.2308G>T p.E770X nonsense 0.00000826●●●●●●
266. 169566282 c.1838A>C p.N613T missense 0.00000826●●●●●●
267. 169562905 c.2345C>T p.T782M missense 0.00000826●●●●●●
268. 169566307 c.1813G>T p.G605C missense 0.00000826●●●●●●
269. 169572418 c.1551G>C p.Q517H missense 0.00000826●●●●●●
270. 169582298 c.644A>G p.H215R missense 0.00000826●●●●●●
271. 169582212 c.730T>A p.C244S missense 0.00000826●●●●●●
272. 169562887 c.2363G>A p.G788D missense 0.00000826●●●●●●
273. 169566328 c.1792T>A p.C598S missense 0.00000826●●●●●●
274. 169566346 c.1774_1783delTTCAATGTTG p.Phe592AlafsTer38 frameshift 0.00000826●●●●●●
275. 169572299 c.1670C>T p.S557L missense 0.00000826●●●●●●
276. 169581629 c.787C>T p.P263S missense 0.00000826●●●●●●
277. 169562948 c.2302A>G p.I768V missense 0.00000826●●●●●●
278. 169566299 c.1821G>C p.K607N missense 0.00000826●●●●●●
279. 169562915 c.2335G>T p.V779L missense 0.00000826●●●●●●
280. 169582933 c.482-2A>T essential splice site 0.00000826●●●●●●
281. 169564061 c.2156A>G p.N719S missense 0.00000826●●●●●●
282. 169578862 c.1213G>A p.A405T missense 0.00000826●●●●●●
283. 169582215 c.727G>C p.E243Q missense 0.00000826●●●●●●
284. 169562901 c.2349A>G p.I783M missense 0.00000826●●●●●●
285. 169582292 c.650T>C p.L217P missense 0.00000826●●●●●●
286. 169586584 c.163A>G p.I55V missense 0.00000826●●●●●●
287. 169586305 c.442G>C p.E148Q missense 0.00000826●●●●●●
288. 169582824 c.589G>A p.V197M missense 0.00000826●●●●●●
289. 169588434 c.27delG p.Leu9PhefsTer21 frameshift 0.00000825●●●●●●
290. 169572407 c.1562T>C p.M521T missense 0.00000825●●●●●●
291. 169588432 c.29A>G p.Y10C missense 0.00000825●●●●●●
292. 169580747 c.1130C>G p.P377R missense 0.00000825●●●●●●
293. 169572314 c.1655T>C p.L552S missense 0.00000825●●●●●●
294. 169578852 c.1223A>T p.Y408F missense 0.00000825●●●●●●
295. 169559399 c.2480A>G p.D827G missense 0.00000825●●●●●●
296. 169582845 c.568T>C p.Y190H missense 0.00000825●●●●●●
297. 169559441 c.2439-1G>T essential splice site 0.00000825●●●●●●
298. 169582263 c.679A>T p.S227C missense 0.00000825●●●●●●
299. 169564032 c.2185A>G p.I729V missense 0.00000825●●●●●●
300. 169581605 c.811G>T p.G271X nonsense 0.00000825●●●●●●
301. 169578814 c.1261A>G p.M421V missense 0.00000825●●●●●●
302. 169559429 c.2450C>T p.T817I missense 0.00000825●●●●●●
303. 169582893 c.520T>C p.C174R missense 0.00000825●●●●●●
304. 169564045 c.2172C>G p.F724L missense 0.00000825●●●●●●
305. 169582917 c.496delA p.Met166CysfsTer32 frameshift 0.00000825●●●●●●
306. 169564022 c.2195delT p.Phe732SerfsTer4 frameshift 0.00000825●●●●●●
307. 169580762 c.1115G>A p.G372E missense 0.00000825●●●●●●
308. 169563999 c.2218C>T p.L740F missense 0.00000825●●●●●●
309. 169564010 c.2207dupA p.Gln738ProfsTer4 frameshift 0.00000825●●●●●●
310. 169582268 c.674A>G p.Q225R missense 0.00000825●●●●●●
311. 169566309 c.1811A>G p.N604S missense 0.00000825●●●●●●
312. 169559430 c.2449A>G p.T817A missense 0.00000825●●●●●●
313. 169564007 c.2210G>A p.G737D missense 0.00000825●●●●●●
314. 169559446 c.2439-6C>T splice site 0.00000825●●●●●●
315. 169572395 c.1574A>G p.Q525R missense 0.00000825●●●●●●
316. 169564054 c.2163G>C p.W721C missense 0.00000825●●●●●●
317. 169588406 c.55G>A p.G19R missense 0.00000825●●●●●●
318. 169582269 c.673C>A p.Q225K missense 0.00000825●●●●●●
319. 169572306 c.1663A>T p.T555S missense 0.00000825●●●●●●
320. 169578849 c.1226A>T p.D409V missense 0.00000825●●●●●●
321. 169566309 c.1811A>T p.N604I missense 0.00000825●●●●●●
322. 169586560 c.187C>T p.R63C missense 0.00000825●●●●●●
323. 169586480 c.267C>G p.Y89X nonsense 0.00000824●●●●●●
324. 169582862 c.551C>A p.S184Y missense 0.00000824●●●●●●
325. 169586469 c.278G>A p.G93E missense 0.00000824●●●●●●
326. 169586353 c.394G>A p.V132M missense 0.00000824●●●●●●
327. 169581505 c.911T>C p.V304A missense 0.00000824●●●●●●
328. 169559423 c.2456G>C p.G819A missense 0.00000824●●●●●●
329. 169580820 c.1057G>A p.E353K missense 0.00000824●●●●●●
330. 169582890 c.523C>T p.L175F missense 0.00000824●●●●●●
331. 169580850 c.1027G>A p.A343T missense 0.00000824●●●●●●
332. 169565309 c.1955C>A p.T652N missense 0.00000824●●●●●●
333. 169586517 c.230A>G p.D77G missense 0.00000824●●●●●●
334. 169581532 c.884G>C p.G295A missense 0.00000824●●●●●●
335. 169586449 c.298A>C p.T100P missense 0.00000824●●●●●●
336. 169581574 c.842C>G p.A281G missense 0.00000824●●●●●●
337. 169565276 c.1988G>A p.G663D missense 0.00000824●●●●●●
338. 169586325 c.422C>T p.A141V missense 0.00000824●●●●●●
339. 169581482 c.934T>G p.W312G missense 0.00000824●●●●●●
340. 169565312 c.1952G>C p.G651A missense 0.00000824●●●●●●
341. 169582879 c.534C>G p.I178M missense 0.00000824●●●●●●
342. 169580798 c.1079T>A p.V360E missense 0.00000824●●●●●●
343. 169572372 c.1597A>G p.K533E missense 0.00000824●●●●●●
344. 169565223 c.2041G>A p.D681N missense 0.00000824●●●●●●
345. 169565208 c.2056T>A p.C686S missense 0.00000824●●●●●●
346. 169586470 c.277G>T p.G93W missense 0.00000824●●●●●●
347. 169586428 c.319A>G p.K107E missense 0.00000824●●●●●●
348. 169586356 c.391T>C p.C131R missense 0.00000824●●●●●●
349. 169581514 c.902C>G p.P301R missense 0.00000824●●●●●●
350. 169580856 c.1021C>T p.L341F missense 0.00000824●●●●●●
351. 169565244 c.2020G>T p.A674S missense 0.00000824●●●●●●
352. 169572330 c.1639T>C p.S547P missense 0.00000824●●●●●●
353. 169565168 c.2096G>T p.C699F missense 0.00000824●●●●●●
354. 169572381 c.1588T>C p.S530P missense 0.00000824●●●●●●
355. 169572346 c.1623C>G p.D541E missense 0.00000824●●●●●●
356. 169586521 c.226A>G p.I76V missense 0.00000824●●●●●●
357. 169586460 c.287A>G p.K96R missense 0.00000824●●●●●●
358. 169581580 c.836C>A p.A279E missense 0.00000824●●●●●●
359. 169581551 c.865A>G p.S289G missense 0.00000824●●●●●●
360. 169580873 c.1004T>C p.M335T missense 0.00000824●●●●●●
361. 169565318 c.1946G>A p.G649E missense 0.00000824●●●●●●
362. 169586451 c.296delA p.Lys99ArgfsTer53 frameshift 0.00000824●●●●●●
363. 169586331 c.416C>T p.P139L missense 0.00000824●●●●●●
364. 169581496 c.920C>T p.T307I missense 0.00000824●●●●●●
365. 169565208 c.2056T>G p.C686G missense 0.00000824●●●●●●
366. 169580802 c.1075A>G p.R359G missense 0.00000824●●●●●●
367. 169572374 c.1595A>G p.Y532C missense 0.00000824●●●●●●
368. 169565225 c.2039G>A p.G680E missense 0.00000824●●●●●●
369. 169582860 c.553T>A p.C185S missense 0.00000824●●●●●●
370. 169586474 c.273G>T p.W91C missense 0.00000824●●●●●●
371. 169586559 c.188G>T p.R63L missense 0.00000824●●●●●●
372. 169565351 c.1913C>T p.P638L missense 0.00000824●●●●●●
373. 169586428 c.319A>T p.K107X nonsense 0.00000824●●●●●●
374. 169586359 c.388G>A p.D130N missense 0.00000824●●●●●●
375. 169581523 c.893T>A p.L298X nonsense 0.00000824●●●●●●
376. 169580868 c.1009T>A p.C337S missense 0.00000824●●●●●●
377. 169572362 c.1607G>T p.C536F missense 0.00000824●●●●●●
378. 169572331 c.1638G>C p.L546F missense 0.00000824●●●●●●
379. 169565162 c.2101+1G>A essential splice site 0.00000824●●●●●●
380. 169586463 c.284G>T p.R95L missense 0.00000824●●●●●●
381. 169581590 c.826C>T p.L276F missense 0.00000824●●●●●●
382. 169586406 c.341C>T p.A114V missense 0.00000824●●●●●●
383. 169586337 c.410A>G p.K137R missense 0.00000824●●●●●●
384. 169581498 c.918C>A p.C306X nonsense 0.00000824●●●●●●
385. 169565328 c.1936A>G p.T646A missense 0.00000824●●●●●●
386. 169559420 c.2459T>A p.V820D missense 0.00000824●●●●●●
387. 169559414 c.2465C>T p.T822I missense 0.00000824●●●●●●
388. 169580807 c.1070G>A p.G357D missense 0.00000824●●●●●●
389. 169565232 c.2032C>T p.L678F missense 0.00000824●●●●●●
390. 169586541 c.206C>G p.A69G missense 0.00000824●●●●●●
391. 169580849 c.1028C>A p.A343D missense 0.00000824●●●●●●
392. 169586508 c.239A>G p.N80S missense 0.00000824●●●●●●
393. 169586446 c.301T>C p.W101R missense 0.00000824●●●●●●
394. 169581563 c.853C>A p.Q285K missense 0.00000824●●●●●●
395. 169580773 c.1104C>G p.C368W missense 0.00000824●●●●●●
396. 169581526 c.890C>T p.A297V missense 0.00000824●●●●●●
397. 169565268 c.1996A>T p.T666S missense 0.00000824●●●●●●
398. 169586375 c.372_374delCAA p.Asn124del inframe 0.00000824●●●●●●
399. 169580871 c.1006G>A p.D336N missense 0.00000824●●●●●●
400. 169565280 c.1984T>A p.F662I missense 0.00000824●●●●●●
401. 169565190 c.2074T>C p.W692R missense 0.00000824●●●●●●
402. 169580792 c.1085G>T p.G362V missense 0.00000824●●●●●●
403. 169565222 c.2042A>C p.D681A missense 0.00000824●●●●●●
404. 169572341 c.1628G>A p.G543E missense 0.00000824●●●●●●
405. 169565201 c.2063C>T p.P688L 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.