AXIN1 missense variants in ExAC

AXIN1 gene summary
AXIN1 variants in

The table below lists the AXIN1 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. 347063 c.1948G>A p.G650S missense 0.01677680●●●●●●
2. 348021 c.1485C>G p.D495E missense 0.00986804●●●●●●
3. 338189 c.2522G>A p.R841Q missense 0.00843228●●●●●●
4. 348233 c.1273G>A p.G425S missense 0.00753132●●●●●●
5. 347957 c.1549G>A p.V517I missense 0.00157871●●●●●●
6. 396221 c.805C>G p.Q269E missense 0.00092943●●●●●●
7. 347929 c.1577C>T p.A526V missense 0.00088597●●●●●●
8. 347930 c.1576G>A p.A526T missense 0.00074470●●●●●●
9. 354353 c.1205C>T p.T402M missense 0.00070798●●●●●●
10. 396193 c.833C>T p.P278L missense 0.00058423●●●●●●
11. 347179 c.1832C>T p.S611L missense 0.00056145●●●●●●
12. 396382 c.644C>T p.S215L missense 0.00043654●●●●●●
13. 341266 c.2218G>A p.A740T missense 0.00043592●●●●●●
14. 347143 c.1868C>T p.S623L missense 0.00038778●●●●●●
15. 396727 c.299G>A p.S100N missense 0.00037100●●●●●●
16. 396631 c.395C>T p.S132L missense 0.00036683●●●●●●
17. 341269 c.2215C>T p.R739C missense 0.00033829●●●●●●
18. 354413 c.1145G>A p.R382H missense 0.00020045●●●●●●
19. 354411 c.1147G>A p.V383M missense 0.00020045●●●●●●
20. 341250 c.2234C>T p.A745V missense 0.00018303●●●●●●
21. 347168 c.1843G>A p.A615T missense 0.00017331●●●●●●
22. 343636 c.2038C>T p.R680W missense 0.00014965●●●●●●
23. 347903 c.1603G>A p.V535I missense 0.00013366●●●●●●
24. 347209 c.1802C>T p.A601V missense 0.00013250●●●●●●
25. 348146 c.1360A>G p.M454V missense 0.00012158●●●●●●
26. 348056 c.1450C>T p.R484C missense 0.00011910●●●●●●
27. 339573 c.2329G>A p.A777T missense 0.00011725●●●●●●
28. 360035 c.1054C>A p.H352N missense 0.00011365●●●●●●
29. 396239 c.787C>A p.P263T missense 0.00010745●●●●●●
30. 347873 c.1633C>T p.R545W missense 0.00010574●●●●●●
31. 341278 c.2206C>T p.R736W missense 0.00009824●●●●●●
32. 341197 c.2287G>A p.E763K missense 0.00009776●●●●●●
33. 341274 c.2210G>A p.R737Q missense 0.00009711●●●●●●
34. 341272 c.2212G>A p.G738R missense 0.00009589●●●●●●
35. 396907 c.119C>T p.A40V missense 0.00009093●●●●●●
36. 339599 c.2303C>T p.S768L missense 0.00008441●●●●●●
37. 347834 c.1672G>A p.A558T missense 0.00008094●●●●●●
38. 354314 c.1244G>A p.R415H missense 0.00007840●●●●●●
39. 396853 c.173C>T p.T58M missense 0.00007473●●●●●●
40. 338166 c.2545G>A p.V849I missense 0.00007462●●●●●●
41. 347974 c.1532C>T p.S511L missense 0.00007176●●●●●●
42. 348239 c.1267G>A p.E423K missense 0.00006720●●●●●●
43. 339579 c.2323G>A p.G775R missense 0.00006705●●●●●●
44. 396226 c.800T>G p.L267R missense 0.00006632●●●●●●
45. 347090 c.1921A>G p.K641E missense 0.00006608●●●●●●
46. 348205 c.1301C>T p.P434L missense 0.00006606●●●●●●
47. 347134 c.1877C>T p.A626V missense 0.00006601●●●●●●
48. 348076 c.1430G>A p.R477H missense 0.00006393●●●●●●
49. 341260 c.2224G>A p.V742I missense 0.00006332●●●●●●
50. 347788 c.1718C>G p.A573G missense 0.00006222●●●●●●
51. 354308 c.1250G>A p.R417H missense 0.00006085●●●●●●
52. 341214 c.2270C>T p.S757L missense 0.00005963●●●●●●
53. 364544 c.1018G>A p.V340M missense 0.00005860●●●●●●
54. 343648 c.2026G>A p.G676S missense 0.00005818●●●●●●
55. 364609 c.953C>T p.A318V missense 0.00005811●●●●●●
56. 338175 c.2536G>A p.V846I missense 0.00005805●●●●●●
57. 347213 c.1798G>A p.V600M missense 0.00005799●●●●●●
58. 396244 c.782C>G p.A261G missense 0.00005780●●●●●●
59. 348128 c.1378C>T p.R460W missense 0.00005762●●●●●●
60. 348127 c.1379G>A p.R460Q missense 0.00005754●●●●●●
61. 347756 c.1750G>A p.A584T missense 0.00005239●●●●●●
62. 348107 c.1399C>T p.P467S missense 0.00005080●●●●●●
63. 396592 c.434A>G p.Y145C missense 0.00005026●●●●●●
64. 339492 c.2410G>A p.A804T missense 0.00005015●●●●●●
65. 347072 c.1939C>T p.R647C missense 0.00004964●●●●●●
66. 396282 c.744G>C p.K248N missense 0.00004942●●●●●●
67. 347908 c.1598G>A p.R533Q missense 0.00004779●●●●●●
68. 354414 c.1144C>T p.R382C missense 0.00004358●●●●●●
69. 348089 c.1417G>C p.E473Q missense 0.00004296●●●●●●
70. 348089 c.1417G>A p.E473K missense 0.00004296●●●●●●
71. 339582 c.2320G>A p.G774S missense 0.00004192●●●●●●
72. 347173 c.1838A>G p.K613R missense 0.00004127●●●●●●
73. 348012 c.1494C>G p.H498Q missense 0.00004036●●●●●●
74. 360043 c.1046G>A p.R349H missense 0.00003946●●●●●●
75. 347891 c.1615G>A p.V539I missense 0.00003820●●●●●●
76. 348000 c.1506G>C p.M502I missense 0.00003617●●●●●●
77. 354437 c.1121C>T p.T374M missense 0.00003495●●●●●●
78. 354434 c.1124A>G p.Y375C missense 0.00003494●●●●●●
79. 354324 c.1234C>T p.R412W missense 0.00003485●●●●●●
80. 348079 c.1427A>G p.Q476R missense 0.00003419●●●●●●
81. 341292 c.2192T>G p.V731G missense 0.00003393●●●●●●
82. 343512 c.2162C>T p.A721V missense 0.00003389●●●●●●
83. 341269 c.2215C>G p.R739G missense 0.00003383●●●●●●
84. 341288 c.2196G>C p.Q732H missense 0.00003373●●●●●●
85. 343543 c.2131C>T p.R711C missense 0.00003367●●●●●●
86. 396173 c.853C>T p.R285W missense 0.00003349●●●●●●
87. 339495 c.2407C>T p.R803C missense 0.00003343●●●●●●
88. 396224 c.802C>T p.P268S missense 0.00003317●●●●●●
89. 338151 c.2560A>G p.I854V missense 0.00003317●●●●●●
90. 348032 c.1474C>T p.R492C missense 0.00003311●●●●●●
91. 396394 c.632C>T p.T211M missense 0.00003295●●●●●●
92. 341277 c.2207G>A p.R736Q missense 0.00003252●●●●●●
93. 347746 c.1760A>G p.N587S missense 0.00003185●●●●●●
94. 341271 c.2213G>C p.G738A missense 0.00003182●●●●●●
95. 347779 c.1727G>A p.R576Q missense 0.00003117●●●●●●
96. 341203 c.2281C>T p.L761F missense 0.00003064●●●●●●
97. 347840 c.1666C>A p.R556S missense 0.00003021●●●●●●
98. 341241 c.2243C>T p.P748L missense 0.00002994●●●●●●
99. 341230 c.2254G>A p.V752M missense 0.00002967●●●●●●
100. 341220 c.2264C>T p.A755V missense 0.00002936●●●●●●
101. 347924 c.1582G>A p.G528S missense 0.00002888●●●●●●
102. 360025 c.1064A>T p.E355V missense 0.00002707●●●●●●
103. 396694 c.332G>C p.C111S missense 0.00002672●●●●●●
104. 396712 c.314T>G p.F105C missense 0.00002663●●●●●●
105. 354350 c.1208G>A p.R403Q missense 0.00002623●●●●●●
106. 354441 c.1117C>T p.R373C missense 0.00002622●●●●●●
107. 354425 c.1133C>G p.P378R missense 0.00002618●●●●●●
108. 343506 c.2168G>A p.R723Q missense 0.00002554●●●●●●
109. 343531 c.2143G>C p.E715Q missense 0.00002531●●●●●●
110. 396164 c.862G>A p.E288K missense 0.00002519●●●●●●
111. 343581 c.2093A>G p.H698R missense 0.00002508●●●●●●
112. 339494 c.2408G>A p.R803H missense 0.00002507●●●●●●
113. 364555 c.1007C>T p.T336M missense 0.00002506●●●●●●
114. 364555 c.1007C>A p.T336K missense 0.00002506●●●●●●
115. 343635 c.2039G>A p.R680Q missense 0.00002494●●●●●●
116. 396839 c.187C>T p.R63C missense 0.00002493●●●●●●
117. 396581 c.445A>G p.I149V missense 0.00002488●●●●●●
118. 338181 c.2530G>A p.E844K missense 0.00002487●●●●●●
119. 347071 c.1940G>C p.R647P missense 0.00002482●●●●●●
120. 347071 c.1940G>A p.R647H missense 0.00002482●●●●●●
121. 396983 c.43A>G p.S15G missense 0.00002481●●●●●●
122. 396916 c.110C>T p.P37L missense 0.00002479●●●●●●
123. 347101 c.1910T>C p.I637T missense 0.00002476●●●●●●
124. 348055 c.1451G>A p.R484H missense 0.00002358●●●●●●
125. 347729 c.1777G>T p.A593S missense 0.00002308●●●●●●
126. 347761 c.1745T>A p.V582D missense 0.00002075●●●●●●
127. 360044 c.1045C>T p.R349C missense 0.00001987●●●●●●
128. 347872 c.1634G>A p.R545Q missense 0.00001925●●●●●●
129. 347932 c.1574A>G p.D525G missense 0.00001897●●●●●●
130. 354431 c.1127G>A p.R376Q missense 0.00001747●●●●●●
131. 396631 c.395C>G p.S132W missense 0.00001747●●●●●●
132. 354315 c.1243C>T p.R415C missense 0.00001742●●●●●●
133. 360001 c.1088A>G p.N363S missense 0.00001732●●●●●●
134. 343522 c.2152G>A p.E718K missense 0.00001690●●●●●●
135. 339576 c.2326A>T p.S776C missense 0.00001675●●●●●●
136. 339513 c.2389C>T p.R797C missense 0.00001671●●●●●●
137. 364555 c.1007C>G p.T336R missense 0.00001671●●●●●●
138. 343707 c.1967C>T p.T656M missense 0.00001664●●●●●●
139. 343713 c.1961C>T p.S654L missense 0.00001664●●●●●●
140. 343645 c.2029C>T p.P677S missense 0.00001662●●●●●●
141. 343685 c.1989G>T p.E663D missense 0.00001662●●●●●●
142. 343668 c.2006C>T p.S669F missense 0.00001662●●●●●●
143. 343689 c.1985A>G p.H662R missense 0.00001662●●●●●●
144. 396838 c.188G>A p.R63H missense 0.00001662●●●●●●
145. 396853 c.173C>A p.T58K missense 0.00001661●●●●●●
146. 364604 c.958G>A p.D320N missense 0.00001661●●●●●●
147. 338127 c.2584G>C p.D862H missense 0.00001659●●●●●●
148. 396233 c.793G>C p.G265R missense 0.00001659●●●●●●
149. 396581 c.445A>C p.I149L missense 0.00001659●●●●●●
150. 338190 c.2521C>G p.R841G missense 0.00001658●●●●●●
151. 338182 c.2529C>G p.D843E missense 0.00001658●●●●●●
152. 396894 c.132C>G p.F44L missense 0.00001654●●●●●●
153. 396911 c.115C>T p.P39S missense 0.00001653●●●●●●
154. 396575 c.451G>A p.D151N missense 0.00001653●●●●●●
155. 347186 c.1825G>T p.A609S missense 0.00001653●●●●●●
156. 396918 c.108C>A p.D36E missense 0.00001652●●●●●●
157. 396454 c.572C>G p.A191G missense 0.00001647●●●●●●
158. 396310 c.716C>T p.P239L missense 0.00001647●●●●●●
159. 396369 c.657A>C p.K219N missense 0.00001647●●●●●●
160. 396413 c.613G>C p.D205H missense 0.00001647●●●●●●
161. 348031 c.1475G>A p.R492H missense 0.00001636●●●●●●
162. 348028 c.1478C>T p.S493F missense 0.00001583●●●●●●
163. 348025 c.1481C>T p.P494L missense 0.00001566●●●●●●
164. 348022 c.1484A>C p.D495A missense 0.00001488●●●●●●
165. 348011 c.1495G>A p.V499M missense 0.00001322●●●●●●
166. 360068 c.1021G>T p.D341Y missense 0.00001233●●●●●●
167. 360068 c.1021G>A p.D341N missense 0.00001233●●●●●●
168. 347729 c.1777G>A p.A593T missense 0.00001154●●●●●●
169. 347740 c.1766G>C p.S589T missense 0.00001085●●●●●●
170. 347744 c.1762G>A p.A588T missense 0.00001073●●●●●●
171. 360055 c.1034C>T p.P345L missense 0.00001072●●●●●●
172. 347749 c.1757C>T p.P586L missense 0.00001055●●●●●●
173. 347753 c.1753G>T p.A585S missense 0.00001050●●●●●●
174. 347782 c.1724C>G p.S575C missense 0.00001036●●●●●●
175. 347777 c.1729G>A p.G577S missense 0.00001034●●●●●●
176. 347765 c.1741A>T p.S581C missense 0.00001033●●●●●●
177. 347819 c.1687G>A p.A563T missense 0.00001029●●●●●●
178. 347975 c.1531T>C p.S511P missense 0.00001027●●●●●●
179. 347966 c.1540G>A p.G514R missense 0.00000997●●●●●●
180. 347849 c.1657G>A p.E553K missense 0.00000992●●●●●●
181. 347947 c.1559C>T p.S520L missense 0.00000949●●●●●●
182. 347942 c.1564G>T p.A522S missense 0.00000946●●●●●●
183. 360023 c.1066A>G p.M356V missense 0.00000896●●●●●●
184. 360015 c.1074G>C p.E358D missense 0.00000884●●●●●●
185. 360011 c.1078G>A p.V360M missense 0.00000876●●●●●●
186. 354356 c.1202G>A p.R401H missense 0.00000874●●●●●●
187. 354342 c.1216G>A p.E406K missense 0.00000874●●●●●●
188. 354347 c.1211A>G p.E404G missense 0.00000874●●●●●●
189. 354366 c.1192G>T p.A398S missense 0.00000873●●●●●●
190. 354432 c.1126C>T p.R376W missense 0.00000873●●●●●●
191. 396745 c.281A>C p.D94A missense 0.00000873●●●●●●
192. 354413 c.1145G>T p.R382L missense 0.00000872●●●●●●
193. 354377 c.1181A>G p.H394R missense 0.00000871●●●●●●
194. 360005 c.1084G>A p.V362I missense 0.00000870●●●●●●
195. 396749 c.277C>A p.L93M missense 0.00000870●●●●●●
196. 396626 c.400G>A p.E134K missense 0.00000869●●●●●●
197. 354309 c.1249C>T p.R417C missense 0.00000869●●●●●●
198. 396626 c.400G>C p.E134Q missense 0.00000869●●●●●●
199. 354308 c.1250G>T p.R417L missense 0.00000869●●●●●●
200. 359995 c.1094G>A p.R365Q missense 0.00000863●●●●●●
201. 343497 c.2177C>A p.S726Y missense 0.00000856●●●●●●
202. 396772 c.254G>C p.W85S missense 0.00000849●●●●●●
203. 339606 c.2296A>G p.T766A missense 0.00000848●●●●●●
204. 343513 c.2161G>A p.A721T missense 0.00000847●●●●●●
205. 396600 c.426A>C p.R142S missense 0.00000845●●●●●●
206. 343537 c.2137C>T p.R713C missense 0.00000843●●●●●●
207. 343536 c.2138G>A p.R713H missense 0.00000843●●●●●●
208. 343542 c.2132G>A p.R711H missense 0.00000842●●●●●●
209. 343545 c.2129C>T p.A710V missense 0.00000841●●●●●●
210. 343555 c.2119C>G p.L707V missense 0.00000841●●●●●●
211. 396165 c.861C>A p.S287R missense 0.00000839●●●●●●
212. 339440 c.2462G>C p.R821T missense 0.00000838●●●●●●
213. 396788 c.238C>T p.P80S missense 0.00000838●●●●●●
214. 343575 c.2099C>T p.A700V missense 0.00000837●●●●●●
215. 339553 c.2349C>G p.I783M missense 0.00000836●●●●●●
216. 339470 c.2432A>G p.K811R missense 0.00000836●●●●●●
217. 339554 c.2348T>C p.I783T missense 0.00000836●●●●●●
218. 339491 c.2411C>T p.A804V missense 0.00000836●●●●●●
219. 343580 c.2094C>G p.H698Q missense 0.00000836●●●●●●
220. 339552 c.2350G>A p.V784I missense 0.00000836●●●●●●
221. 339497 c.2405G>T p.G802V missense 0.00000836●●●●●●
222. 339510 c.2392A>G p.T798A missense 0.00000835●●●●●●
223. 339549 c.2353G>A p.V785M missense 0.00000835●●●●●●
224. 339545 c.2357C>T p.A786V missense 0.00000835●●●●●●
225. 364559 c.1003C>T p.L335F missense 0.00000835●●●●●●
226. 343587 c.2087C>T p.P696L missense 0.00000834●●●●●●
227. 364564 c.998T>A p.L333Q missense 0.00000834●●●●●●
228. 396196 c.830C>T p.A277V missense 0.00000834●●●●●●
229. 364567 c.995C>A p.T332N missense 0.00000833●●●●●●
230. 343606 c.2068A>C p.I690L missense 0.00000833●●●●●●
231. 343701 c.1973A>T p.K658M missense 0.00000832●●●●●●
232. 343615 c.2059C>T p.H687Y missense 0.00000832●●●●●●
233. 343708 c.1966A>T p.T656S missense 0.00000832●●●●●●
234. 364577 c.985G>A p.D329N missense 0.00000832●●●●●●
235. 396584 c.442T>G p.Y148D missense 0.00000831●●●●●●
236. 364679 c.883G>A p.G295R missense 0.00000831●●●●●●
237. 396214 c.812T>C p.L271P missense 0.00000831●●●●●●
238. 396826 c.200A>G p.D67G missense 0.00000831●●●●●●
239. 364665 c.897G>T p.E299D missense 0.00000831●●●●●●
240. 364598 c.964G>A p.E322K missense 0.00000831●●●●●●
241. 364670 c.892C>T p.R298W missense 0.00000831●●●●●●
242. 343677 c.1997G>C p.R666T missense 0.00000831●●●●●●
243. 343692 c.1982C>A p.P661H missense 0.00000831●●●●●●
244. 396844 c.182C>T p.P61L missense 0.00000831●●●●●●
245. 343635 c.2039G>T p.R680L missense 0.00000831●●●●●●
246. 364671 c.891G>C p.W297C missense 0.00000831●●●●●●
247. 343681 c.1993T>C p.S665P missense 0.00000831●●●●●●
248. 338226 c.2485G>T p.D829Y missense 0.00000830●●●●●●
249. 396233 c.793G>A p.G265R missense 0.00000830●●●●●●
250. 364651 c.911A>G p.Y304C missense 0.00000830●●●●●●
251. 338129 c.2582T>C p.V861A missense 0.00000830●●●●●●
252. 364621 c.941C>T p.P314L missense 0.00000830●●●●●●
253. 338231 c.2480T>C p.V827A missense 0.00000830●●●●●●
254. 338223 c.2488G>A p.E830K missense 0.00000830●●●●●●
255. 364634 c.928T>C p.Y310H missense 0.00000830●●●●●●
256. 338226 c.2485G>A p.D829N missense 0.00000830●●●●●●
257. 338216 c.2495A>C p.D832A missense 0.00000830●●●●●●
258. 396856 c.170C>T p.S57L missense 0.00000830●●●●●●
259. 364637 c.925G>A p.G309S missense 0.00000830●●●●●●
260. 364646 c.916G>A p.V306I missense 0.00000830●●●●●●
261. 347059 c.1952A>T p.H651L missense 0.00000829●●●●●●
262. 338145 c.2566G>A p.G856S missense 0.00000829●●●●●●
263. 338130 c.2581G>C p.V861L missense 0.00000829●●●●●●
264. 338201 c.2510T>A p.F837Y missense 0.00000829●●●●●●
265. 347057 c.1954G>A p.G652R missense 0.00000829●●●●●●
266. 396232 c.794G>C p.G265A missense 0.00000829●●●●●●
267. 396861 c.165G>C p.E55D missense 0.00000829●●●●●●
268. 338172 c.2539C>G p.L847V missense 0.00000829●●●●●●
269. 338166 c.2545G>T p.V849F missense 0.00000829●●●●●●
270. 397006 c.20G>T p.G7V missense 0.00000828●●●●●●
271. 347206 c.1805G>C p.C602S missense 0.00000828●●●●●●
272. 396236 c.790C>G p.P264A missense 0.00000827●●●●●●
273. 347073 c.1938C>A p.H646Q missense 0.00000827●●●●●●
274. 347074 c.1937A>C p.H646P missense 0.00000827●●●●●●
275. 347195 c.1816G>T p.A606S missense 0.00000827●●●●●●
276. 396908 c.118G>A p.A40T missense 0.00000827●●●●●●
277. 347075 c.1936C>T p.H646Y missense 0.00000827●●●●●●
278. 396889 c.137C>T p.S46F missense 0.00000827●●●●●●
279. 396238 c.788C>A p.P263H missense 0.00000827●●●●●●
280. 396964 c.62C>T p.P21L missense 0.00000826●●●●●●
281. 396917 c.109C>A p.P37T missense 0.00000826●●●●●●
282. 396570 c.456C>A p.N152K missense 0.00000825●●●●●●
283. 396568 c.458A>G p.N153S missense 0.00000825●●●●●●
284. 396249 c.777A>C p.R259S missense 0.00000825●●●●●●
285. 347150 c.1861G>C p.G621R missense 0.00000825●●●●●●
286. 396929 c.97G>A p.V33M missense 0.00000825●●●●●●
287. 347161 c.1850C>G p.T617S missense 0.00000825●●●●●●
288. 396541 c.485C>T p.P162L missense 0.00000824●●●●●●
289. 396436 c.590C>T p.T197I missense 0.00000824●●●●●●
290. 396504 c.522G>T p.K174N missense 0.00000824●●●●●●
291. 396368 c.658G>A p.V220I missense 0.00000824●●●●●●
292. 396440 c.586A>C p.N196H missense 0.00000824●●●●●●
293. 396468 c.558G>C p.Q186H missense 0.00000824●●●●●●
294. 396353 c.673A>G p.S225G missense 0.00000824●●●●●●
295. 396553 c.473G>A p.R158Q missense 0.00000824●●●●●●
296. 396529 c.497G>A p.S166N missense 0.00000824●●●●●●
297. 396329 c.697G>T p.G233C missense 0.00000824●●●●●●
298. 396491 c.535C>T p.P179S missense 0.00000824●●●●●●
299. 396354 c.672G>C p.Q224H missense 0.00000824●●●●●●
300. 396272 c.754G>A p.D252N missense 0.00000824●●●●●●
301. 396565 c.461G>T p.G154V missense 0.00000824●●●●●●
302. 396535 c.491C>T p.T164I missense 0.00000824●●●●●●
303. 396449 c.577A>G p.M193V missense 0.00000824●●●●●●
304. 396494 c.532G>A p.D178N missense 0.00000824●●●●●●
305. 396508 c.518T>C p.M173T missense 0.00000824●●●●●●
306. 396330 c.696G>C p.K232N missense 0.00000824●●●●●●
307. 396361 c.665G>A p.S222N 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.