EGFR variants in ExAC

EGFR gene summary
EGFR variants in

The table below lists the EGFR 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. 55229255 c.1562G>A p.R521K missense 0.28696319●●●●●●
2. 55214443 c.559+10G>A splice site 0.07684593●●●●●●
3. 55231426 c.1632T>C p.G544G splice site 0.00247957●●●●●●
4. 55268897 c.2963A>C p.H988P missense 0.00220761●●●●●●
5. 55227825 c.1299-7A>G splice site 0.00201139●●●●●●
6. 55273162 c.3485G>A p.S1162N missense 0.00086689●●●●●●
7. 55259485 c.2543C>T p.P848L missense 0.00046297●●●●●●
8. 55266418 c.2710G>A p.V904I missense 0.00037064●●●●●●
9. 55210990 c.241-8C>G splice site 0.00036270●●●●●●
10. 55233024 c.1774G>A p.V592I missense 0.00033033●●●●●●
11. 55273306 c.3629C>T p.A1210V missense 0.00032983●●●●●●
12. 55221800 c.844G>A p.E282K missense 0.00030477●●●●●●
13. 55268045 c.2885G>A p.R962H missense 0.00029651●●●●●●
14. 55233128 c.1878C>T splice site 0.00028120●●●●●●
15. 55266485 c.2777T>A p.I926N missense 0.00027181●●●●●●
16. 55240780 c.2024G>A p.R675Q missense 0.00021508●●●●●●
17. 55087031 c.61G>A p.A21T missense 0.00019821●●●●●●
18. 55273144 c.3467A>C p.H1156P missense 0.00018164●●●●●●
19. 55221725 c.769G>A p.E257K missense 0.00018121●●●●●●
20. 55229273 c.1580G>A p.R527Q missense 0.00014826●●●●●●
21. 55229225 c.1532C>A p.S511Y missense 0.00014026●●●●●●
22. 55211050 c.293G>A p.R98Q missense 0.00013179●●●●●●
23. 55240795 c.2039G>A p.R680Q missense 0.00011627●●●●●●
24. 55270228 c.3181A>C p.K1061Q missense 0.00010817●●●●●●
25. 55260454 c.2626-5C>T splice site 0.00009892●●●●●●
26. 55268930 c.2996G>A p.R999H missense 0.00009885●●●●●●
27. 55269456 c.3143C>T p.A1048V missense 0.00009884●●●●●●
28. 55087008 c.38C>T p.A13V missense 0.00009660●●●●●●
29. 55268044 c.2884C>T p.R962C missense 0.00009060●●●●●●
30. 55259433 c.2491C>T p.R831C missense 0.00008284●●●●●●
31. 55229246 c.1553C>T p.P518L missense 0.00008240●●●●●●
32. 55224360 c.1133+8A>G splice site 0.00008237●●●●●●
33. 55238878 c.1891C>T p.P631S missense 0.00008237●●●●●●
34. 55086986 c.16A>G p.T6A missense 0.00007974●●●●●●
35. 55242419 c.2189T>G p.L730R missense 0.00007429●●●●●●
36. 55214295 c.425-4G>A splice site 0.00007427●●●●●●
37. 55223601 c.968T>C p.V323A missense 0.00006748●●●●●●
38. 55242488 c.2258C>T p.P753L missense 0.00006595●●●●●●
39. 55241607 c.2062-7C>G splice site 0.00006589●●●●●●
40. 55221714 c.758A>G p.K253R missense 0.00006589●●●●●●
41. 55220281 c.671G>A p.R224H missense 0.00005829●●●●●●
42. 55259434 c.2492G>A p.R831H missense 0.00005798●●●●●●
43. 55241732 c.2180A>G p.Y727C missense 0.00005780●●●●●●
44. 55269020 c.3086C>T p.T1029M missense 0.00005780●●●●●●
45. 55211136 c.379G>A p.A127T missense 0.00005767●●●●●●
46. 55086989 c.19G>C p.A7P missense 0.00005130●●●●●●
47. 55220363 c.747+6A>G splice site 0.00005096●●●●●●
48. 55229188 c.1499-4G>A splice site 0.00005001●●●●●●
49. 55248995 c.2293G>A p.V765M missense 0.00004973●●●●●●
50. 55240749 c.1993G>A p.G665S missense 0.00004947●●●●●●
51. 55210994 c.241-4T>G splice site 0.00004944●●●●●●
52. 55220340 c.730C>T p.R244W missense 0.00004199●●●●●●
53. 55273030 c.3353C>T p.A1118V missense 0.00004158●●●●●●
54. 55269052 c.3114+4T>G splice site 0.00004138●●●●●●
55. 55240776 c.2020G>A p.V674I missense 0.00004132●●●●●●
56. 55249071 c.2369C>T p.T790M missense 0.00004122●●●●●●
57. 55240692 c.1936A>C p.I646L missense 0.00004119●●●●●●
58. 55221720 c.764G>A p.R255Q missense 0.00004118●●●●●●
59. 55229272 c.1579C>T p.R527W missense 0.00004118●●●●●●
60. 55223571 c.938C>T p.A313V missense 0.00003309●●●●●●
61. 55273104 c.3427C>G p.Q1143E missense 0.00003302●●●●●●
62. 55249177 c.2469+6C>A splice site 0.00003301●●●●●●
63. 55273224 c.3547C>A p.P1183T missense 0.00003300●●●●●●
64. 55233049 c.1799T>C p.M600T missense 0.00003300●●●●●●
65. 55268999 c.3065G>A p.G1022D missense 0.00003298●●●●●●
66. 55249067 c.2365A>C p.I789L missense 0.00003298●●●●●●
67. 55214368 c.494G>A p.R165Q missense 0.00003297●●●●●●
68. 55229250 c.1557G>T p.E519D missense 0.00003296●●●●●●
69. 55221848 c.889+3G>A splice site 0.00003296●●●●●●
70. 55266457 c.2749G>A p.G917R missense 0.00003295●●●●●●
71. 55269465 c.3152A>G p.D1051G missense 0.00003295●●●●●●
72. 55268044 c.2884C>G p.R962G missense 0.00003295●●●●●●
73. 55221711 c.755G>A p.R252H missense 0.00003295●●●●●●
74. 55269450 c.3137C>A p.T1046N missense 0.00003295●●●●●●
75. 55238900 c.1913C>T p.T638M missense 0.00003295●●●●●●
76. 55086977 c.7C>A p.P3T missense 0.00002942●●●●●●
77. 55086978 c.8C>T p.P3L missense 0.00002906●●●●●●
78. 55086981 c.11C>T p.S4F missense 0.00002856●●●●●●
79. 55223621 c.988G>A p.E330K missense 0.00002719●●●●●●
80. 55270222 c.3175C>T p.P1059S missense 0.00002629●●●●●●
81. 55086989 c.19G>T p.A7S missense 0.00002565●●●●●●
82. 55272966 c.3289G>A p.V1097I missense 0.00002494●●●●●●
83. 55223545 c.912C>A p.H304Q missense 0.00002482●●●●●●
84. 55233016 c.1766C>A p.P589H missense 0.00002478●●●●●●
85. 55273082 c.3405C>A p.N1135K missense 0.00002477●●●●●●
86. 55249058 c.2356G>A p.V786M missense 0.00002477●●●●●●
87. 55273148 c.3471G>C p.W1157C missense 0.00002477●●●●●●
88. 55273231 c.3554G>C p.G1185A missense 0.00002475●●●●●●
89. 55273254 c.3577G>A p.E1193K missense 0.00002474●●●●●●
90. 55227923 c.1390T>A p.S464T missense 0.00002473●●●●●●
91. 55221852 c.889+7C>A splice site 0.00002473●●●●●●
92. 55214367 c.493C>T p.R165W missense 0.00002473●●●●●●
93. 55249118 c.2416A>G p.K806E missense 0.00002473●●●●●●
94. 55242454 c.2224G>A p.V742I missense 0.00002473●●●●●●
95. 55241690 c.2138A>C p.K713T missense 0.00002472●●●●●●
96. 55260533 c.2700C>T splice site 0.00002472●●●●●●
97. 55266541 c.2833A>G p.M945V missense 0.00002472●●●●●●
98. 55210006 c.116C>T p.T39M missense 0.00002471●●●●●●
99. 55268922 c.2988C>A p.N996K missense 0.00002471●●●●●●
100. 55229299 c.1606G>A p.V536M missense 0.00002471●●●●●●
101. 55266454 c.2746G>A p.D916N missense 0.00002471●●●●●●
102. 55238887 c.1900G>A p.E634K missense 0.00002471●●●●●●
103. 55266508 c.2800C>T p.P934S missense 0.00002471●●●●●●
104. 55269452 c.3139G>A p.V1047M missense 0.00002471●●●●●●
105. 55266412 c.2704G>T p.V902L missense 0.00002471●●●●●●
106. 55211102 c.345T>A p.N115K missense 0.00002471●●●●●●
107. 55268023 c.2863G>A p.A955T missense 0.00002471●●●●●●
108. 55223634 c.1001G>A p.R334H missense 0.00001987●●●●●●
109. 55270291 c.3244A>G p.I1082V missense 0.00001910●●●●●●
110. 55270291 c.3244A>T p.I1082L missense 0.00001910●●●●●●
111. 55087056 c.86A>C p.K29T missense 0.00001884●●●●●●
112. 55087052 c.82A>G p.K28E missense 0.00001856●●●●●●
113. 55087022 c.52C>T p.L18F missense 0.00001833●●●●●●
114. 55087031 c.61G>T p.A21S missense 0.00001802●●●●●●
115. 55220349 c.739G>A p.D247N missense 0.00001686●●●●●●
116. 55220341 c.731G>A p.R244Q missense 0.00001680●●●●●●
117. 55240825 c.2061+8C>T splice site 0.00001672●●●●●●
118. 55259576 c.2625+9G>A splice site 0.00001664●●●●●●
119. 55220275 c.665G>A p.R222H missense 0.00001664●●●●●●
120. 55273029 c.3352G>A p.A1118T missense 0.00001663●●●●●●
121. 55211184 c.424+3G>A splice site 0.00001659●●●●●●
122. 55240786 c.2030G>A p.R677H missense 0.00001658●●●●●●
123. 55240789 c.2033C>T p.T678M missense 0.00001658●●●●●●
124. 55273045 c.3368C>T p.P1123L missense 0.00001656●●●●●●
125. 55259437 c.2495G>A p.R832H missense 0.00001656●●●●●●
126. 55249007 c.2305G>A p.V769M missense 0.00001656●●●●●●
127. 55259449 c.2507G>A p.R836H missense 0.00001655●●●●●●
128. 55249016 c.2314C>G p.P772A missense 0.00001655●●●●●●
129. 55231514 c.1720C>T p.R574W missense 0.00001654●●●●●●
130. 55269043 c.3109T>A p.S1037T missense 0.00001654●●●●●●
131. 55269044 c.3110C>A p.S1037Y missense 0.00001654●●●●●●
132. 55233007 c.1757T>C p.I586T missense 0.00001653●●●●●●
133. 55227960 c.1427A>G p.N476S missense 0.00001652●●●●●●
134. 55273159 c.3482G>A p.G1161D missense 0.00001651●●●●●●
135. 55233031 c.1781C>A p.T594N missense 0.00001651●●●●●●
136. 55214294 c.425-5C>T splice site 0.00001651●●●●●●
137. 55273183 c.3506A>G p.N1169S missense 0.00001651●●●●●●
138. 55225446 c.1298A>G p.H433R missense 0.00001651●●●●●●
139. 55240767 c.2011C>T p.R671C missense 0.00001651●●●●●●
140. 55240762 c.2006G>A p.R669Q missense 0.00001650●●●●●●
141. 55229227 c.1534C>T p.P512S missense 0.00001650●●●●●●
142. 55273243 c.3566G>C p.G1189A missense 0.00001650●●●●●●
143. 55249088 c.2386G>A p.G796S missense 0.00001649●●●●●●
144. 55273278 c.3601G>A p.A1201T missense 0.00001649●●●●●●
145. 55214308 c.434A>G p.H145R missense 0.00001649●●●●●●
146. 55214313 c.439G>A p.A147T missense 0.00001649●●●●●●
147. 55240752 c.1996C>T p.L666F missense 0.00001649●●●●●●
148. 55273249 c.3572C>T p.T1191I missense 0.00001649●●●●●●
149. 55229230 c.1537G>A p.E513K missense 0.00001649●●●●●●
150. 55233066 c.1816C>G p.L606V missense 0.00001649●●●●●●
151. 55249103 c.2401T>C p.Y801H missense 0.00001649●●●●●●
152. 55240708 c.1952T>G p.V651G missense 0.00001648●●●●●●
153. 55268962 c.3028G>A p.V1010M missense 0.00001648●●●●●●
154. 55231427 c.1633G>A p.E545K missense 0.00001648●●●●●●
155. 55231420 c.1632-6T>C splice site 0.00001648●●●●●●
156. 55227877 c.1344G>C p.L448F missense 0.00001648●●●●●●
157. 55241677 c.2125G>A p.E709K missense 0.00001648●●●●●●
158. 55268959 c.3025G>A p.D1009N missense 0.00001648●●●●●●
159. 55210102 c.212A>G p.Q71R missense 0.00001648●●●●●●
160. 55268974 c.3040G>A p.D1014N missense 0.00001648●●●●●●
161. 55240699 c.1943C>G p.T648S missense 0.00001648●●●●●●
162. 55227885 c.1352G>A p.R451H missense 0.00001648●●●●●●
163. 55225396 c.1248C>G p.D416E missense 0.00001648●●●●●●
164. 55231462 c.1668A>G p.I556M missense 0.00001648●●●●●●
165. 55268102 c.2942T>C p.I981T missense 0.00001648●●●●●●
166. 55223519 c.890-4C>T splice site 0.00001648●●●●●●
167. 55240687 c.1931C>T p.P644L missense 0.00001648●●●●●●
168. 55223514 c.890-9C>T splice site 0.00001648●●●●●●
169. 55268902 c.2968C>T p.P990S missense 0.00001647●●●●●●
170. 55269482 c.3162+7A>G splice site 0.00001647●●●●●●
171. 55209985 c.95A>G p.Q32R missense 0.00001647●●●●●●
172. 55219014 c.587A>G p.N196S missense 0.00001647●●●●●●
173. 55210065 c.175G>A p.E59K missense 0.00001647●●●●●●
174. 55269462 c.3149T>C p.I1050T missense 0.00001647●●●●●●
175. 55210066 c.176A>C p.E59A missense 0.00001647●●●●●●
176. 55268897 c.2963A>G p.H988R missense 0.00001647●●●●●●
177. 55211083 c.326G>C p.G109A missense 0.00001647●●●●●●
178. 55241610 c.2062-4C>T splice site 0.00001647●●●●●●
179. 55221753 c.797C>A p.P266Q missense 0.00001647●●●●●●
180. 55270310 c.3263C>T p.P1088L missense 0.00001051●●●●●●
181. 55270307 c.3260T>G p.L1087R missense 0.00001033●●●●●●
182. 55270246 c.3199C>A p.Q1067K missense 0.00001015●●●●●●
183. 55270249 c.3202C>T p.R1068X nonsense 0.00000997●●●●●●
184. 55270256 c.3209G>A p.S1070N missense 0.00000962●●●●●●
185. 55270256 c.3209G>C p.S1070T missense 0.00000962●●●●●●
186. 55270264 c.3217C>A p.P1073T missense 0.00000947●●●●●●
187. 55270284 c.3237G>C p.E1079D missense 0.00000945●●●●●●
188. 55270270 c.3223G>A p.G1075S missense 0.00000938●●●●●●
189. 55270279 c.3232A>T p.T1078S missense 0.00000937●●●●●●
190. 55270273 c.3226G>A p.A1076T missense 0.00000936●●●●●●
191. 55270273 c.3226G>C p.A1076P missense 0.00000936●●●●●●
192. 55270274 c.3227C>T p.A1076V missense 0.00000936●●●●●●
193. 55223622 c.989A>T p.E330V missense 0.00000905●●●●●●
194. 55223622 c.989A>G p.E330G missense 0.00000905●●●●●●
195. 55223618 c.985T>C p.C329R missense 0.00000884●●●●●●
196. 55223615 c.982A>C p.K328Q missense 0.00000872●●●●●●
197. 55223606 c.973A>C p.K325Q missense 0.00000857●●●●●●
198. 55220365 c.747+8G>A splice site 0.00000851●●●●●●
199. 55223604 c.971G>A p.R324H missense 0.00000848●●●●●●
200. 55220356 c.746T>C p.L249P missense 0.00000845●●●●●●
201. 55223600 c.967G>A p.V323I missense 0.00000844●●●●●●
202. 55220349 c.739G>C p.D247H missense 0.00000843●●●●●●
203. 55223597 c.964G>A p.G322S missense 0.00000839●●●●●●
204. 55228038 c.1498+7C>T splice site 0.00000838●●●●●●
205. 55272944 c.3272-5T>G splice site 0.00000835●●●●●●
206. 55220293 c.683C>A p.P228H missense 0.00000835●●●●●●
207. 55223555 c.922G>A p.V308I missense 0.00000833●●●●●●
208. 55228017 c.1484G>A p.G495D missense 0.00000833●●●●●●
209. 55272950 c.3273A>G splice site 0.00000833●●●●●●
210. 55273012 c.3335A>G p.N1112S missense 0.00000832●●●●●●
211. 55220271 c.661G>A p.G221R missense 0.00000832●●●●●●
212. 55223587 c.954G>T p.M318I missense 0.00000832●●●●●●
213. 55259573 c.2625+6G>A splice site 0.00000832●●●●●●
214. 55273026 c.3349C>A p.P1117T missense 0.00000832●●●●●●
215. 55273011 c.3334A>C p.N1112H missense 0.00000832●●●●●●
216. 55272994 c.3317A>G p.Q1106R missense 0.00000832●●●●●●
217. 55220271 c.661G>T p.G221W missense 0.00000832●●●●●●
218. 55272984 c.3307G>A p.G1103S missense 0.00000831●●●●●●
219. 55272987 c.3310T>C p.S1104P missense 0.00000831●●●●●●
220. 55272979 c.3302C>G p.P1101R missense 0.00000831●●●●●●
221. 55220268 c.658T>C p.S220P missense 0.00000831●●●●●●
222. 55220264 c.654G>T p.Q218H missense 0.00000830●●●●●●
223. 55248982 c.2284-4C>G splice site 0.00000829●●●●●●
224. 55248995 c.2293G>C p.V765L missense 0.00000829●●●●●●
225. 55227986 c.1453G>A p.G485S missense 0.00000829●●●●●●
226. 55229200 c.1507G>A p.G503S missense 0.00000829●●●●●●
227. 55223577 c.944G>A p.S315N missense 0.00000828●●●●●●
228. 55220232 c.629-7T>G splice site 0.00000828●●●●●●
229. 55214442 c.559+9C>T splice site 0.00000828●●●●●●
230. 55211180 c.423G>T p.Q141H missense 0.00000828●●●●●●
231. 55232983 c.1733A>G p.N578S missense 0.00000828●●●●●●
232. 55269052 c.3114+4T>C splice site 0.00000828●●●●●●
233. 55211184 c.424+3_424+4delGA splice site 0.00000828●●●●●●
234. 55259436 c.2494C>T p.R832C missense 0.00000828●●●●●●
235. 55269055 c.3114+7A>T splice site 0.00000828●●●●●●
236. 55220235 c.629-4T>A splice site 0.00000828●●●●●●
237. 55259538 c.2596G>A p.E866K missense 0.00000828●●●●●●
238. 55269056 c.3114+8A>G splice site 0.00000828●●●●●●
239. 55259448 c.2506C>T p.R836C missense 0.00000828●●●●●●
240. 55249004 c.2302A>G p.S768G missense 0.00000828●●●●●●
241. 55220242 c.632C>G p.T211S missense 0.00000828●●●●●●
242. 55269056 c.3114+8_3114+9insTCTCTGTC splice site 0.00000828●●●●●●
243. 55227970 c.1437A>C p.K479N missense 0.00000827●●●●●●
244. 55259465 c.2523G>C p.R841S missense 0.00000827●●●●●●
245. 55233129 c.1879G>A p.G627R missense 0.00000827●●●●●●
246. 55259460 c.2518G>A p.A840T missense 0.00000827●●●●●●
247. 55259518 c.2576C>T p.A859V missense 0.00000827●●●●●●
248. 55232989 c.1739T>C p.I580T missense 0.00000827●●●●●●
249. 55231515 c.1721G>A p.R574Q missense 0.00000827●●●●●●
250. 55232991 c.1741C>A p.Q581K missense 0.00000827●●●●●●
251. 55269034 c.3100C>A p.L1034I missense 0.00000827●●●●●●
252. 55223568 c.935G>C p.G312A missense 0.00000827●●●●●●
253. 55259451 c.2509G>A p.D837N missense 0.00000827●●●●●●
254. 55231509 c.1715C>G p.T572R missense 0.00000827●●●●●●
255. 55269035 c.3101T>C p.L1034P missense 0.00000827●●●●●●
256. 55249179 c.2469+8G>A splice site 0.00000826●●●●●●
257. 55242413 c.2185-2A>G essential splice site 0.00000826●●●●●●
258. 55269026 c.3092G>A p.R1031Q missense 0.00000826●●●●●●
259. 55241726 c.2174C>T p.T725M missense 0.00000826●●●●●●
260. 55240776 c.2020G>T p.V674F missense 0.00000826●●●●●●
261. 55269028 c.3094A>G p.T1032A missense 0.00000826●●●●●●
262. 55273163 c.3486C>G p.S1162R missense 0.00000826●●●●●●
263. 55225349 c.1208-7C>T splice site 0.00000826●●●●●●
264. 55273131 c.3454G>C p.D1152H missense 0.00000826●●●●●●
265. 55214421 c.547C>A p.H183N missense 0.00000826●●●●●●
266. 55273086 c.3409G>A p.E1137K missense 0.00000826●●●●●●
267. 55273131 c.3454G>A p.D1152N missense 0.00000826●●●●●●
268. 55231503 c.1709C>G p.T570S missense 0.00000826●●●●●●
269. 55273075 c.3398T>A p.V1133E missense 0.00000826●●●●●●
270. 55214421 c.547C>G p.H183D missense 0.00000826●●●●●●
271. 55242410 c.2185-5C>T splice site 0.00000826●●●●●●
272. 55273121 c.3444C>G p.N1148K missense 0.00000826●●●●●●
273. 55273077 c.3400G>A p.G1134S missense 0.00000826●●●●●●
274. 55273126 c.3449C>T p.T1150I missense 0.00000825●●●●●●
275. 55231484 c.1690C>A p.P564T missense 0.00000825●●●●●●
276. 55225355 c.1208-1G>A essential splice site 0.00000825●●●●●●
277. 55233091 c.1841G>A p.G614D missense 0.00000825●●●●●●
278. 55225358 c.1210T>A p.F404I missense 0.00000825●●●●●●
279. 55214404 c.530C>T p.S177L missense 0.00000825●●●●●●
280. 55273218 c.3541G>A p.A1181T missense 0.00000825●●●●●●
281. 55242503 c.2273A>G p.E758G missense 0.00000825●●●●●●
282. 55273195 c.3518A>C p.Q1173P missense 0.00000825●●●●●●
283. 55233081 c.1831G>A p.A611T missense 0.00000825●●●●●●
284. 55242447 c.2217A>T p.K739N missense 0.00000825●●●●●●
285. 55233048 c.1798A>T p.M600L missense 0.00000825●●●●●●
286. 55231493 c.1699A>G p.M567V missense 0.00000825●●●●●●
287. 55233043 c.1793G>T p.G598V missense 0.00000825●●●●●●
288. 55233097 c.1847T>C p.V616A missense 0.00000825●●●●●●
289. 55225437 c.1289C>A p.T430N missense 0.00000825●●●●●●
290. 55273231 c.3554G>A p.G1185D missense 0.00000825●●●●●●
291. 55242448 c.2218A>G p.I740V missense 0.00000825●●●●●●
292. 55231475 c.1681G>C p.E561Q missense 0.00000825●●●●●●
293. 55249176 c.2469+5T>C splice site 0.00000825●●●●●●
294. 55273224 c.3547C>T p.P1183S missense 0.00000825●●●●●●
295. 55240766 c.2010G>T p.R670S missense 0.00000825●●●●●●
296. 55229230 c.1537G>T p.E513X nonsense 0.00000825●●●●●●
297. 55233087 c.1837G>A p.A613T missense 0.00000825●●●●●●
298. 55211157 c.400G>A p.E134K missense 0.00000825●●●●●●
299. 55273212 c.3535_3538delAAGG p.Glu1180ProfsTer18 frameshift 0.00000825●●●●●●
300. 55273228 c.3551A>G p.N1184S missense 0.00000825●●●●●●
301. 55233039 c.1789G>T p.A597S missense 0.00000825●●●●●●
302. 55231484 c.1690C>T p.P564S missense 0.00000825●●●●●●
303. 55225431 c.1283G>A p.G428D missense 0.00000825●●●●●●
304. 55233117 c.1867A>T p.N623Y missense 0.00000825●●●●●●
305. 55249165 c.2463C>G p.I821M missense 0.00000825●●●●●●
306. 55233090 c.1840G>A p.G614S missense 0.00000825●●●●●●
307. 55273207 c.3530T>C p.F1177S missense 0.00000825●●●●●●
308. 55242500 c.2270A>G p.K757R missense 0.00000825●●●●●●
309. 55211166 c.409A>G p.M137V missense 0.00000825●●●●●●
310. 55273208 c.3531T>A p.F1177L missense 0.00000825●●●●●●
311. 55242419 c.2189T>C p.L730P missense 0.00000825●●●●●●
312. 55241717 c.2165C>T p.A722V missense 0.00000825●●●●●●
313. 55240758 c.2002A>G p.M668V missense 0.00000825●●●●●●
314. 55273251 c.3574G>A p.A1192T missense 0.00000825●●●●●●
315. 55269009 c.3075C>G p.S1025R missense 0.00000825●●●●●●
316. 55233048 c.1798A>G p.M600V missense 0.00000825●●●●●●
317. 55268921 c.2987A>G p.N996S missense 0.00000824●●●●●●
318. 55242457 c.2227G>A p.A743T missense 0.00000824●●●●●●
319. 55231472 c.1678C>A p.P560T missense 0.00000824●●●●●●
320. 55211072 c.315G>C p.Q105H missense 0.00000824●●●●●●
321. 55268048 c.2888A>G p.E963G missense 0.00000824●●●●●●
322. 55241653 c.2101C>A p.Q701K missense 0.00000824●●●●●●
323. 55229275 c.1582A>G p.N528D missense 0.00000824●●●●●●
324. 55229249 c.1556A>G p.E519G missense 0.00000824●●●●●●
325. 55221732 c.776C>T p.T259M missense 0.00000824●●●●●●
326. 55210057 c.167A>G p.N56S missense 0.00000824●●●●●●
327. 55224531 c.1207+6A>C splice site 0.00000824●●●●●●
328. 55240746 c.1990A>T p.I664F missense 0.00000824●●●●●●
329. 55266405 c.2702-5C>G splice site 0.00000824●●●●●●
330. 55211143 c.386A>C p.K129T missense 0.00000824●●●●●●
331. 55214376 c.502G>C p.V168L missense 0.00000824●●●●●●
332. 55211032 c.275C>T p.A92V missense 0.00000824●●●●●●
333. 55211007 c.250G>A p.E84K missense 0.00000824●●●●●●
334. 55268105 c.2945A>T p.Q982L missense 0.00000824●●●●●●
335. 55224529 c.1207+4_1207+5insAA splice site 0.00000824●●●●●●
336. 55229245 c.1552C>T p.P518S missense 0.00000824●●●●●●
337. 55224217 c.1007-9_1007-6delTCTC splice site 0.00000824●●●●●●
338. 55266547 c.2839A>C p.M947L missense 0.00000824●●●●●●
339. 55266526 c.2818A>G p.T940A missense 0.00000824●●●●●●
340. 55221710 c.754C>G p.R252G missense 0.00000824●●●●●●
341. 55260497 c.2664C>G p.H888Q missense 0.00000824●●●●●●
342. 55260476 c.2643G>T p.M881I missense 0.00000824●●●●●●
343. 55240695 c.1939G>A p.A647T missense 0.00000824●●●●●●
344. 55221753 c.797C>G p.P266R missense 0.00000824●●●●●●
345. 55249104 c.2402A>G p.Y801C missense 0.00000824●●●●●●
346. 55224324 c.1105C>A p.L369I missense 0.00000824●●●●●●
347. 55214383 c.509G>A p.S170N missense 0.00000824●●●●●●
348. 55224270 c.1051A>G p.I351V missense 0.00000824●●●●●●
349. 55269481 c.3162+6T>C splice site 0.00000824●●●●●●
350. 55211026 c.269T>A p.L90H missense 0.00000824●●●●●●
351. 55211073 c.316A>G p.I106V missense 0.00000824●●●●●●
352. 55268905 c.2971A>G p.S991G missense 0.00000824●●●●●●
353. 55242482 c.2252C>T p.T751I missense 0.00000824●●●●●●
354. 55268078 c.2918G>A p.R973Q missense 0.00000824●●●●●●
355. 55268069 c.2909A>G p.K970R missense 0.00000824●●●●●●
356. 55221831 c.875T>C p.V292A missense 0.00000824●●●●●●
357. 55229263 c.1570G>A p.V524I missense 0.00000824●●●●●●
358. 55221750 c.794C>A p.P265H missense 0.00000824●●●●●●
359. 55266473 c.2765A>T p.E922V missense 0.00000824●●●●●●
360. 55227923 c.1390T>G p.S464A missense 0.00000824●●●●●●
361. 55269441 c.3128A>G p.N1043S missense 0.00000824●●●●●●
362. 55221853 c.889+8C>T splice site 0.00000824●●●●●●
363. 55225386 c.1238A>G p.N413S missense 0.00000824●●●●●●
364. 55268944 c.3010_3012delGAA p.Glu1004del inframe 0.00000824●●●●●●
365. 55238866 c.1881-2A>C essential splice site 0.00000824●●●●●●
366. 55269465 c.3152A>C p.D1051A missense 0.00000824●●●●●●
367. 55268891 c.2957G>A p.R986K missense 0.00000824●●●●●●
368. 55231455 c.1661A>G p.E554G missense 0.00000824●●●●●●
369. 55211046 c.289G>C p.E97Q missense 0.00000824●●●●●●
370. 55273279 c.3602C>T p.A1201V missense 0.00000824●●●●●●
371. 55211007 c.250G>C p.E84Q missense 0.00000824●●●●●●
372. 55238905 c.1918G>T p.G640W missense 0.00000824●●●●●●
373. 55209987 c.97G>A p.G33S missense 0.00000824●●●●●●
374. 55224529 c.1207+4T>A splice site 0.00000824●●●●●●
375. 55219037 c.610G>A p.E204K missense 0.00000824●●●●●●
376. 55260515 c.2682G>T p.Q894H missense 0.00000824●●●●●●
377. 55240719 c.1963C>G p.L655V missense 0.00000824●●●●●●
378. 55260484 c.2651A>G p.E884G missense 0.00000824●●●●●●
379. 55273269 c.3592C>G p.L1198V missense 0.00000824●●●●●●
380. 55224465 c.1147C>A p.H383N missense 0.00000824●●●●●●
381. 55214383 c.509G>T p.S170I missense 0.00000824●●●●●●
382. 55268905 c.2971A>C p.S991R missense 0.00000824●●●●●●
383. 55266407 c.2702-3C>T splice site 0.00000824●●●●●●
384. 55211089 c.332T>C p.M111T missense 0.00000824●●●●●●
385. 55260451 c.2626-8A>C splice site 0.00000824●●●●●●
386. 55268951 c.3017A>C p.D1006A missense 0.00000824●●●●●●
387. 55221783 c.827A>G p.Q276R missense 0.00000824●●●●●●
388. 55268090 c.2930G>A p.R977H missense 0.00000824●●●●●●
389. 55268072 c.2912T>C p.M971T missense 0.00000824●●●●●●
390. 55241711 c.2159C>G p.S720C missense 0.00000824●●●●●●
391. 55229300 c.1607T>C p.V536A missense 0.00000824●●●●●●
392. 55221845 c.889C>T p.R297C missense 0.00000824●●●●●●
393. 55266531 c.2823C>G p.I941M missense 0.00000824●●●●●●
394. 55266484 c.2776A>C p.I926L missense 0.00000824●●●●●●
395. 55223518 c.890-5C>T splice site 0.00000824●●●●●●
396. 55238899 c.1912A>G p.T638A missense 0.00000824●●●●●●
397. 55221701 c.748-3T>C splice site 0.00000824●●●●●●
398. 55266547 c.2839A>G p.M947V missense 0.00000824●●●●●●
399. 55214319 c.445C>T p.R149W missense 0.00000824●●●●●●
400. 55224321 c.1102G>C p.D368H missense 0.00000824●●●●●●
401. 55211050 c.293G>T p.R98L missense 0.00000824●●●●●●
402. 55241614 c.2062C>T p.L688F missense 0.00000824●●●●●●
403. 55221719 c.763C>T p.R255X nonsense 0.00000824●●●●●●
404. 55210048 c.158G>A p.R53K missense 0.00000824●●●●●●
405. 55224530 c.1207+5G>A splice site 0.00000824●●●●●●
406. 55224445 c.1134-7G>A splice site 0.00000824●●●●●●
407. 55268044 c.2884C>A p.R962S missense 0.00000824●●●●●●
408. 55227911 c.1378G>A p.D460N missense 0.00000824●●●●●●
409. 55218988 c.561C>T splice site 0.00000824●●●●●●
410. 55240732 c.1976T>C p.V659A missense 0.00000824●●●●●●
411. 55240699 c.1943C>T p.T648I missense 0.00000824●●●●●●
412. 55214374 c.500T>C p.I167T missense 0.00000824●●●●●●
413. 55266550 c.2842G>A p.V948I missense 0.00000824●●●●●●
414. 55273273 c.3596G>C p.R1199T missense 0.00000824●●●●●●
415. 55224510 c.1192G>A p.V398I missense 0.00000824●●●●●●
416. 55214387 c.513C>A p.D171E missense 0.00000824●●●●●●
417. 55238866 c.1881-2A>G essential splice site 0.00000824●●●●●●
418. 55268876 c.2947-5A>G splice site 0.00000824●●●●●●
419. 55214329 c.455A>G p.N152S missense 0.00000824●●●●●●
420. 55209991 c.101C>G p.T34R missense 0.00000824●●●●●●
421. 55268958 c.3024C>A p.D1008E missense 0.00000824●●●●●●
422. 55223534 c.901G>T p.V301L missense 0.00000824●●●●●●
423. 55211025 c.268C>T p.L90F missense 0.00000824●●●●●●
424. 55241611 c.2062-3C>T splice site 0.00000824●●●●●●
425. 55221809 c.853T>C p.Y285H missense 0.00000824●●●●●●
426. 55210116 c.226C>A p.L76I missense 0.00000824●●●●●●
427. 55229329 c.1631+5G>C splice site 0.00000824●●●●●●
428. 55268077 c.2917C>G p.R973G missense 0.00000824●●●●●●
429. 55229323 c.1630G>A p.G544S missense 0.00000824●●●●●●
430. 55224446 c.1134-6T>C splice site 0.00000824●●●●●●
431. 55260508 c.2675C>T p.T892I missense 0.00000824●●●●●●
432. 55260470 c.2637G>C p.K879N missense 0.00000824●●●●●●
433. 55227858 c.1325G>A p.S442N missense 0.00000824●●●●●●
434. 55225409 c.1261G>A p.E421K missense 0.00000824●●●●●●
435. 55219001 c.574C>A p.P192T missense 0.00000824●●●●●●
436. 55260496 c.2663A>G p.H888R missense 0.00000824●●●●●●
437. 55224247 c.1028G>T p.G343V missense 0.00000824●●●●●●
438. 55214320 c.446G>A p.R149Q missense 0.00000824●●●●●●
439. 55242487 c.2257C>T p.P753S missense 0.00000824●●●●●●
440. 55210998 c.241A>G p.T81A missense 0.00000824●●●●●●
441. 55224322 c.1103A>T p.D368V 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.