EGFR missense variants in ExAC

EGFR gene summary
EGFR variants in

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