CTNNA3 missense variants in ExAC

CTNNA3 gene summary
CTNNA3 variants in

The table below lists the CTNNA3 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. 68040325 c.1787G>A p.S596N missense 0.41196636●●●●●●
2. 69281701 c.478T>A p.S160T missense 0.02262331●●●●●●
3. 68139039 c.1603C>T p.R535C missense 0.01183154●●●●●●
4. 68138987 c.1655C>T p.T552M missense 0.00772185●●●●●●
5. 68979466 c.742G>T p.A248S missense 0.00208392●●●●●●
6. 68280453 c.1453A>T p.T485S missense 0.00102276●●●●●●
7. 68526170 c.1133G>A p.R378H missense 0.00094354●●●●●●
8. 68139055 c.1587T>A p.D529E missense 0.00082432●●●●●●
9. 68139054 c.1588G>T p.A530S missense 0.00082432●●●●●●
10. 68526108 c.1195C>A p.L399I missense 0.00070089●●●●●●
11. 68979429 c.779A>G p.Q260R missense 0.00070018●●●●●●
12. 67862992 c.1900G>A p.E634K missense 0.00045376●●●●●●
13. 68526171 c.1132C>T p.R378C missense 0.00044707●●●●●●
14. 69299263 c.457G>C p.A153P missense 0.00044098●●●●●●
15. 68381506 c.1318G>A p.D440N missense 0.00042496●●●●●●
16. 67680203 c.2573T>C p.L858S missense 0.00033782●●●●●●
17. 67862956 c.1936C>T p.R646C missense 0.00032141●●●●●●
18. 67862955 c.1937G>A p.R646H missense 0.00028842●●●●●●
19. 68040262 c.1850T>C p.I617T missense 0.00026447●●●●●●
20. 67726392 c.2378G>A p.G793E missense 0.00023923●●●●●●
21. 68280456 c.1450C>T p.R484C missense 0.00023096●●●●●●
22. 69366752 c.155C>T p.S52L missense 0.00022250●●●●●●
23. 67680275 c.2501G>T p.R834L missense 0.00015652●●●●●●
24. 67829159 c.2066C>T p.A689V missense 0.00014014●●●●●●
25. 68138999 c.1643C>T p.A548V missense 0.00014010●●●●●●
26. 68139038 c.1604G>A p.R535H missense 0.00012365●●●●●●
27. 68139032 c.1610C>T p.A537V missense 0.00011544●●●●●●
28. 68979490 c.718A>G p.T240A missense 0.00011532●●●●●●
29. 69281601 c.578A>G p.Q193R missense 0.00010744●●●●●●
30. 68280485 c.1421C>T p.A474V missense 0.00010730●●●●●●
31. 68139014 c.1628G>A p.R543Q missense 0.00010715●●●●●●
32. 69299271 c.449A>G p.H150R missense 0.00009974●●●●●●
33. 68940115 c.1007G>T p.R336L missense 0.00009896●●●●●●
34. 67829171 c.2054G>A p.S685N missense 0.00009895●●●●●●
35. 68526111 c.1192G>A p.V398I missense 0.00009894●●●●●●
36. 68526128 c.1175C>T p.T392M missense 0.00008246●●●●●●
37. 67680226 c.2550G>A p.M850I missense 0.00008239●●●●●●
38. 68979438 c.770A>G p.Q257R missense 0.00008237●●●●●●
39. 67829246 c.1979C>T p.A660V missense 0.00006822●●●●●●
40. 68040347 c.1765G>A p.A589T missense 0.00006618●●●●●●
41. 68940163 c.959C>T p.T320M missense 0.00006598●●●●●●
42. 68138991 c.1651G>A p.V551I missense 0.00006593●●●●●●
43. 68979412 c.796C>T p.P266S missense 0.00006593●●●●●●
44. 67680252 c.2524C>T p.R842W missense 0.00006591●●●●●●
45. 68381521 c.1303A>G p.M435V missense 0.00005844●●●●●●
46. 67680372 c.2404G>T p.D802Y missense 0.00005799●●●●●●
47. 68040289 c.1823A>T p.D608V missense 0.00005784●●●●●●
48. 69366777 c.130C>G p.P44A missense 0.00005781●●●●●●
49. 68526084 c.1219C>T p.R407W missense 0.00005770●●●●●●
50. 68139015 c.1627C>T p.R543W missense 0.00005770●●●●●●
51. 68526072 c.1231A>G p.I411V missense 0.00005769●●●●●●
52. 67680276 c.2500C>G p.R834G missense 0.00005767●●●●●●
53. 67680283 c.2493G>T p.K831N missense 0.00005767●●●●●●
54. 68979376 c.832G>A p.D278N missense 0.00004981●●●●●●
55. 69299304 c.416C>T p.A139V missense 0.00004972●●●●●●
56. 68040247 c.1865G>A p.C622Y missense 0.00004960●●●●●●
57. 68940123 c.999C>A p.N333K missense 0.00004948●●●●●●
58. 68535266 c.1064G>A p.R355K missense 0.00004948●●●●●●
59. 68138951 c.1691C>T p.T564M missense 0.00004946●●●●●●
60. 67680324 c.2452G>C p.V818L missense 0.00004946●●●●●●
61. 68526083 c.1220G>A p.R407Q missense 0.00004946●●●●●●
62. 69299343 c.377G>A p.R126H missense 0.00004137●●●●●●
63. 68040340 c.1772A>T p.E591V missense 0.00004133●●●●●●
64. 68040308 c.1804G>T p.D602Y missense 0.00004131●●●●●●
65. 68526149 c.1154T>C p.V385A missense 0.00004127●●●●●●
66. 67726390 c.2380G>A p.G794R missense 0.00004125●●●●●●
67. 68940134 c.988G>A p.A330T missense 0.00004124●●●●●●
68. 68535252 c.1078A>G p.N360D missense 0.00004122●●●●●●
69. 67680195 c.2581A>G p.R861G missense 0.00004120●●●●●●
70. 67680096 c.2680A>T p.I894F missense 0.00003310●●●●●●
71. 69299344 c.376C>T p.R126C missense 0.00003310●●●●●●
72. 68040341 c.1771G>A p.E591K missense 0.00003308●●●●●●
73. 68040253 c.1859T>A p.I620N missense 0.00003306●●●●●●
74. 68280437 c.1469T>G p.I490R missense 0.00003300●●●●●●
75. 68280455 c.1451G>A p.R484H missense 0.00003299●●●●●●
76. 68940148 c.974G>A p.R325Q missense 0.00003299●●●●●●
77. 69407199 c.73A>G p.K25E missense 0.00003299●●●●●●
78. 68940115 c.1007G>A p.R336H missense 0.00003299●●●●●●
79. 68535236 c.1094A>G p.N365S missense 0.00003298●●●●●●
80. 68526104 c.1199T>C p.I400T missense 0.00003298●●●●●●
81. 67726423 c.2347A>G p.S783G missense 0.00003298●●●●●●
82. 68139068 c.1574T>C p.L525S missense 0.00003297●●●●●●
83. 67829127 c.2098G>A p.D700N missense 0.00003297●●●●●●
84. 67829103 c.2122A>G p.M708V missense 0.00003296●●●●●●
85. 67680147 c.2629A>C p.K877Q missense 0.00003296●●●●●●
86. 67748467 c.2248C>T p.R750W missense 0.00003296●●●●●●
87. 67748504 c.2211G>C p.M737I missense 0.00003295●●●●●●
88. 67680251 c.2525G>A p.R842Q missense 0.00003295●●●●●●
89. 67680278 c.2498T>C p.I833T missense 0.00003295●●●●●●
90. 68979616 c.592C>A p.P198T missense 0.00002536●●●●●●
91. 68979606 c.602G>A p.R201K missense 0.00002513●●●●●●
92. 68381476 c.1348A>G p.N450D missense 0.00002510●●●●●●
93. 69299272 c.448C>T p.H150Y missense 0.00002493●●●●●●
94. 69366623 c.284G>A p.R95H missense 0.00002489●●●●●●
95. 69366624 c.283C>T p.R95C missense 0.00002487●●●●●●
96. 68280516 c.1390C>G p.L464V missense 0.00002485●●●●●●
97. 69299347 c.373G>T p.A125S missense 0.00002482●●●●●●
98. 68280504 c.1402G>A p.A468T missense 0.00002480●●●●●●
99. 68040276 c.1836G>T p.K612N missense 0.00002479●●●●●●
100. 68940232 c.890G>A p.R297Q missense 0.00002476●●●●●●
101. 68280417 c.1489G>A p.V497I missense 0.00002475●●●●●●
102. 69407180 c.92T>A p.I31K missense 0.00002475●●●●●●
103. 67726468 c.2302T>C p.Y768H missense 0.00002475●●●●●●
104. 68940178 c.944C>T p.A315V missense 0.00002475●●●●●●
105. 68280434 c.1472A>G p.H491R missense 0.00002475●●●●●●
106. 68535210 c.1120C>T p.R374C missense 0.00002474●●●●●●
107. 68940116 c.1006C>T p.R336C missense 0.00002474●●●●●●
108. 68979564 c.644C>T p.S215F missense 0.00002474●●●●●●
109. 68535257 c.1073C>A p.T358N missense 0.00002474●●●●●●
110. 68940110 c.1012G>A p.A338T missense 0.00002474●●●●●●
111. 67726402 c.2368C>G p.Q790E missense 0.00002474●●●●●●
112. 68526117 c.1186C>G p.L396V missense 0.00002474●●●●●●
113. 69407256 c.16C>G p.P6A missense 0.00002474●●●●●●
114. 68139084 c.1558A>C p.K520Q missense 0.00002473●●●●●●
115. 69281671 c.508C>T p.L170F missense 0.00002473●●●●●●
116. 68979414 c.794C>T p.P265L missense 0.00002472●●●●●●
117. 67680282 c.2494A>T p.I832F missense 0.00002472●●●●●●
118. 68138972 c.1670G>A p.S557N missense 0.00002472●●●●●●
119. 68138994 c.1648A>G p.I550V missense 0.00002472●●●●●●
120. 68138985 c.1657G>T p.G553C missense 0.00002472●●●●●●
121. 68979478 c.730G>A p.E244K missense 0.00002471●●●●●●
122. 69366718 c.189G>T p.E63D missense 0.00002471●●●●●●
123. 69366801 c.106A>C p.T36P missense 0.00001676●●●●●●
124. 68381515 c.1309A>G p.T437A missense 0.00001668●●●●●●
125. 67829219 c.2006A>T p.E669V missense 0.00001665●●●●●●
126. 69299268 c.452T>G p.V151G missense 0.00001663●●●●●●
127. 69366618 c.289G>C p.E97Q missense 0.00001662●●●●●●
128. 69366789 c.118T>C p.C40R missense 0.00001661●●●●●●
129. 69299290 c.430G>A p.V144I missense 0.00001659●●●●●●
130. 68040364 c.1748T>C p.V583A missense 0.00001659●●●●●●
131. 69299287 c.433A>G p.M145V missense 0.00001659●●●●●●
132. 69366624 c.283C>A p.R95S missense 0.00001658●●●●●●
133. 69299322 c.398C>T p.T133M missense 0.00001656●●●●●●
134. 69299350 c.370G>A p.A124T missense 0.00001655●●●●●●
135. 68040229 c.1883G>A p.R628Q missense 0.00001655●●●●●●
136. 68040230 c.1882C>T p.R628W missense 0.00001655●●●●●●
137. 69299367 c.353G>A p.R118K missense 0.00001654●●●●●●
138. 68040337 c.1775C>G p.A592G missense 0.00001654●●●●●●
139. 67680366 c.2410G>A p.V804I missense 0.00001654●●●●●●
140. 67680099 c.2677C>A p.Q893K missense 0.00001653●●●●●●
141. 68040271 c.1841A>G p.Y614C missense 0.00001653●●●●●●
142. 68040259 c.1853A>G p.H618R missense 0.00001653●●●●●●
143. 67726492 c.2278T>C p.S760P missense 0.00001652●●●●●●
144. 68280399 c.1507A>C p.I503L missense 0.00001651●●●●●●
145. 68535282 c.1048G>T p.A350S missense 0.00001651●●●●●●
146. 68940232 c.890G>C p.R297P missense 0.00001651●●●●●●
147. 68940242 c.880G>A p.E294K missense 0.00001651●●●●●●
148. 69407256 c.16C>T p.P6S missense 0.00001650●●●●●●
149. 68940214 c.908G>A p.R303H missense 0.00001650●●●●●●
150. 68940167 c.955T>C p.C319R missense 0.00001650●●●●●●
151. 68280457 c.1449G>C p.K483N missense 0.00001650●●●●●●
152. 69407258 c.14C>T p.T5I missense 0.00001650●●●●●●
153. 68138919 c.1723A>G p.T575A missense 0.00001650●●●●●●
154. 68940215 c.907C>T p.R303C missense 0.00001650●●●●●●
155. 68940187 c.935C>T p.A312V missense 0.00001650●●●●●●
156. 68940157 c.965A>G p.D322G missense 0.00001650●●●●●●
157. 68280475 c.1431C>A p.N477K missense 0.00001650●●●●●●
158. 67680348 c.2428G>A p.A810T missense 0.00001650●●●●●●
159. 68940143 c.979C>T p.R327W missense 0.00001650●●●●●●
160. 68940203 c.919A>T p.I307F missense 0.00001650●●●●●●
161. 69407205 c.67G>A p.V23M missense 0.00001649●●●●●●
162. 68940104 c.1018C>G p.Q340E missense 0.00001649●●●●●●
163. 69407250 c.22A>G p.T8A missense 0.00001649●●●●●●
164. 68535245 c.1085C>T p.A362V missense 0.00001649●●●●●●
165. 68526083 c.1220G>T p.R407L missense 0.00001649●●●●●●
166. 69366759 c.148G>A p.G50R missense 0.00001649●●●●●●
167. 68526105 c.1198A>G p.I400V missense 0.00001649●●●●●●
168. 67829154 c.2071A>G p.I691V missense 0.00001649●●●●●●
169. 69407237 c.35A>T p.D12V missense 0.00001649●●●●●●
170. 68526112 c.1191G>T p.L397F missense 0.00001649●●●●●●
171. 67680297 c.2479A>C p.I827L missense 0.00001648●●●●●●
172. 67862937 c.1955A>G p.Q652R missense 0.00001648●●●●●●
173. 67680222 c.2554G>A p.A852T missense 0.00001648●●●●●●
174. 67680208 c.2568A>T p.K856N missense 0.00001648●●●●●●
175. 68138967 c.1675G>A p.E559K missense 0.00001648●●●●●●
176. 67680176 c.2600C>T p.T867M missense 0.00001648●●●●●●
177. 67680304 c.2472G>A p.M824I missense 0.00001648●●●●●●
178. 67680222 c.2554G>C p.A852P missense 0.00001648●●●●●●
179. 67680158 c.2618G>A p.R873Q missense 0.00001648●●●●●●
180. 67680122 c.2654T>C p.V885A missense 0.00001648●●●●●●
181. 67680176 c.2600C>G p.T867R missense 0.00001648●●●●●●
182. 69366756 c.151C>T p.R51C missense 0.00001648●●●●●●
183. 68138973 c.1669A>G p.S557G missense 0.00001648●●●●●●
184. 67829100 c.2125T>A p.C709S missense 0.00001648●●●●●●
185. 67680294 c.2482G>A p.A828T missense 0.00001648●●●●●●
186. 67680219 c.2557C>A p.P853T missense 0.00001648●●●●●●
187. 68138995 c.1647C>A p.H549Q missense 0.00001648●●●●●●
188. 67829082 c.2143A>C p.M715L missense 0.00001648●●●●●●
189. 69366723 c.184G>T p.V62L missense 0.00001648●●●●●●
190. 68979628 c.580G>A p.D194N missense 0.00000855●●●●●●
191. 67829247 c.1978G>A p.A660T missense 0.00000854●●●●●●
192. 68979622 c.586A>G p.K196E missense 0.00000850●●●●●●
193. 68381542 c.1282G>A p.V428M missense 0.00000846●●●●●●
194. 67829237 c.1988C>T p.T663I missense 0.00000845●●●●●●
195. 68381538 c.1286C>A p.A429E missense 0.00000843●●●●●●
196. 68381529 c.1295C>T p.A432V missense 0.00000837●●●●●●
197. 68381524 c.1300T>C p.S434P missense 0.00000836●●●●●●
198. 68381479 c.1345G>A p.A449T missense 0.00000836●●●●●●
199. 68979603 c.605A>G p.D202G missense 0.00000836●●●●●●
200. 68381484 c.1340T>C p.I447T missense 0.00000835●●●●●●
201. 67829223 c.2002G>A p.A668T missense 0.00000835●●●●●●
202. 67829224 c.2001G>T p.E667D missense 0.00000835●●●●●●
203. 68381520 c.1304T>C p.M435T missense 0.00000835●●●●●●
204. 68040375 c.1737T>G p.I579M missense 0.00000834●●●●●●
205. 68381487 c.1337A>G p.K446R missense 0.00000834●●●●●●
206. 68040379 c.1733T>G p.V578G missense 0.00000834●●●●●●
207. 68381500 c.1324A>G p.I442V missense 0.00000833●●●●●●
208. 68280524 c.1382A>G p.N461S missense 0.00000830●●●●●●
209. 69299287 c.433A>T p.M145L missense 0.00000830●●●●●●
210. 69299285 c.435G>C p.M145I missense 0.00000830●●●●●●
211. 69299286 c.434T>C p.M145T missense 0.00000830●●●●●●
212. 68280522 c.1384G>A p.A462T missense 0.00000830●●●●●●
213. 69281719 c.460T>C p.F154L missense 0.00000829●●●●●●
214. 69299295 c.425T>C p.I142T missense 0.00000829●●●●●●
215. 68979585 c.623G>C p.R208P missense 0.00000829●●●●●●
216. 69299289 c.431T>C p.V144A missense 0.00000829●●●●●●
217. 69299299 c.421A>G p.M141V missense 0.00000829●●●●●●
218. 68979585 c.623G>A p.R208Q missense 0.00000829●●●●●●
219. 69299328 c.392C>T p.A131V missense 0.00000828●●●●●●
220. 67680368 c.2408G>T p.S803I missense 0.00000828●●●●●●
221. 69366627 c.280G>A p.V94I missense 0.00000828●●●●●●
222. 69299336 c.384G>T p.L128F missense 0.00000828●●●●●●
223. 67863006 c.1886C>G p.T629S missense 0.00000828●●●●●●
224. 69366629 c.278A>C p.E93A missense 0.00000828●●●●●●
225. 68040352 c.1760A>G p.N587S missense 0.00000828●●●●●●
226. 69299415 c.305A>T p.K102I missense 0.00000828●●●●●●
227. 68040242 c.1870G>C p.V624L missense 0.00000827●●●●●●
228. 69299344 c.376C>G p.R126G missense 0.00000827●●●●●●
229. 68040229 c.1883G>T p.R628L missense 0.00000827●●●●●●
230. 68040337 c.1775C>A p.A592D missense 0.00000827●●●●●●
231. 68280381 c.1525G>C p.V509L missense 0.00000827●●●●●●
232. 68940268 c.854T>C p.V285A missense 0.00000827●●●●●●
233. 68040232 c.1880T>A p.I627N missense 0.00000827●●●●●●
234. 68526165 c.1138G>C p.A380P missense 0.00000827●●●●●●
235. 68040254 c.1858A>G p.I620V missense 0.00000827●●●●●●
236. 68979385 c.823A>G p.S275G missense 0.00000827●●●●●●
237. 68040232 c.1880T>C p.I627T missense 0.00000827●●●●●●
238. 69281709 c.470C>T p.T157I missense 0.00000827●●●●●●
239. 69366631 c.276G>C p.E92D missense 0.00000827●●●●●●
240. 68040255 c.1857T>G p.D619E missense 0.00000827●●●●●●
241. 69299344 c.376C>A p.R126S missense 0.00000827●●●●●●
242. 68040316 c.1796A>G p.N599S missense 0.00000826●●●●●●
243. 68526156 c.1147G>T p.D383Y missense 0.00000826●●●●●●
244. 68940253 c.869C>T p.T290I missense 0.00000826●●●●●●
245. 68040281 c.1831A>G p.K611E missense 0.00000826●●●●●●
246. 68040256 c.1856A>G p.D619G missense 0.00000826●●●●●●
247. 69281601 c.578A>T p.Q193L missense 0.00000826●●●●●●
248. 68040284 c.1828T>G p.S610A missense 0.00000826●●●●●●
249. 67680362 c.2414C>G p.T805R missense 0.00000826●●●●●●
250. 68280383 c.1523C>A p.A508D missense 0.00000826●●●●●●
251. 68138912 c.1730C>T p.T577I missense 0.00000826●●●●●●
252. 68040298 c.1814A>C p.Q605P missense 0.00000826●●●●●●
253. 69366777 c.130C>A p.P44T missense 0.00000826●●●●●●
254. 69281607 c.572G>A p.R191H missense 0.00000826●●●●●●
255. 67829201 c.2024A>G p.E675G missense 0.00000826●●●●●●
256. 67726451 c.2319G>T p.K773N missense 0.00000825●●●●●●
257. 67726404 c.2366T>C p.I789T missense 0.00000825●●●●●●
258. 68979400 c.808G>T p.A270S missense 0.00000825●●●●●●
259. 68940205 c.917C>T p.A306V missense 0.00000825●●●●●●
260. 68940161 c.961A>G p.R321G missense 0.00000825●●●●●●
261. 69281686 c.493G>A p.A165T missense 0.00000825●●●●●●
262. 68940116 c.1006C>A p.R336S missense 0.00000825●●●●●●
263. 68139099 c.1543T>G p.L515V missense 0.00000825●●●●●●
264. 69281608 c.571C>T p.R191C missense 0.00000825●●●●●●
265. 68940140 c.982A>G p.I328V missense 0.00000825●●●●●●
266. 68535275 c.1055A>G p.K352R missense 0.00000825●●●●●●
267. 67726428 c.2342T>C p.I781T missense 0.00000825●●●●●●
268. 68280398 c.1508T>C p.I503T missense 0.00000825●●●●●●
269. 67862994 c.1898T>C p.L633P missense 0.00000825●●●●●●
270. 68526146 c.1157C>T p.S386L missense 0.00000825●●●●●●
271. 68526129 c.1174A>G p.T392A missense 0.00000825●●●●●●
272. 69366773 c.134C>T p.S45F missense 0.00000825●●●●●●
273. 67726467 c.2303A>G p.Y768C missense 0.00000825●●●●●●
274. 68280479 c.1427A>G p.K476R missense 0.00000825●●●●●●
275. 68940137 c.985A>T p.I329F missense 0.00000825●●●●●●
276. 69281617 c.562G>A p.A188T missense 0.00000825●●●●●●
277. 68940166 c.956G>A p.C319Y missense 0.00000825●●●●●●
278. 68979566 c.642C>G p.N214K missense 0.00000825●●●●●●
279. 68526027 c.1276G>A p.V426I missense 0.00000825●●●●●●
280. 67726393 c.2377G>A p.G793R missense 0.00000825●●●●●●
281. 68940151 c.971A>G p.H324R missense 0.00000825●●●●●●
282. 68280437 c.1469T>C p.I490T missense 0.00000825●●●●●●
283. 67829172 c.2053A>G p.S685G missense 0.00000825●●●●●●
284. 69281694 c.485A>G p.K162R missense 0.00000825●●●●●●
285. 68940119 c.1003A>G p.I335V missense 0.00000825●●●●●●
286. 68280471 c.1435A>T p.M479L missense 0.00000825●●●●●●
287. 67680337 c.2439T>A p.N813K missense 0.00000825●●●●●●
288. 68280482 c.1424T>C p.V475A missense 0.00000825●●●●●●
289. 68940142 c.980G>A p.R327Q missense 0.00000825●●●●●●
290. 68280429 c.1477C>G p.L493V missense 0.00000825●●●●●●
291. 68940125 c.997A>T p.N333Y missense 0.00000825●●●●●●
292. 68979400 c.808G>A p.A270T missense 0.00000825●●●●●●
293. 67829192 c.2033C>T p.A678V missense 0.00000825●●●●●●
294. 68979567 c.641A>C p.N214T missense 0.00000825●●●●●●
295. 68940086 c.1036T>C p.Y346H missense 0.00000825●●●●●●
296. 68526131 c.1172A>T p.D391V missense 0.00000825●●●●●●
297. 68280447 c.1459G>A p.E487K missense 0.00000825●●●●●●
298. 67829184 c.2041A>G p.K681E missense 0.00000825●●●●●●
299. 68940136 c.986T>C p.I329T missense 0.00000825●●●●●●
300. 68526027 c.1276G>C p.V426L missense 0.00000825●●●●●●
301. 68138921 c.1721T>C p.L574P missense 0.00000825●●●●●●
302. 68280396 c.1510G>A p.D504N missense 0.00000825●●●●●●
303. 68139093 c.1549G>C p.D517H missense 0.00000825●●●●●●
304. 68280436 c.1470A>G p.I490M missense 0.00000825●●●●●●
305. 69407200 c.72G>C p.E24D missense 0.00000825●●●●●●
306. 68940098 c.1024C>G p.L342V missense 0.00000825●●●●●●
307. 68526143 c.1160A>G p.D387G missense 0.00000825●●●●●●
308. 68138931 c.1711G>A p.V571I missense 0.00000825●●●●●●
309. 68979571 c.637G>A p.E213K missense 0.00000825●●●●●●
310. 67829163 c.2062G>T p.D688Y missense 0.00000824●●●●●●
311. 68979456 c.752T>C p.V251A missense 0.00000824●●●●●●
312. 68979462 c.746T>C p.L249P missense 0.00000824●●●●●●
313. 68979559 c.649C>G p.L217V missense 0.00000824●●●●●●
314. 67829170 c.2055T>G p.S685R missense 0.00000824●●●●●●
315. 67829123 c.2102T>A p.I701N missense 0.00000824●●●●●●
316. 69366694 c.213C>G p.D71E missense 0.00000824●●●●●●
317. 68979554 c.654G>C p.L218F missense 0.00000824●●●●●●
318. 69366653 c.254A>G p.D85G missense 0.00000824●●●●●●
319. 68979502 c.706G>C p.A236P missense 0.00000824●●●●●●
320. 67748505 c.2210T>A p.M737K missense 0.00000824●●●●●●
321. 67748475 c.2240T>A p.V747D missense 0.00000824●●●●●●
322. 67680275 c.2501G>A p.R834Q missense 0.00000824●●●●●●
323. 67862965 c.1927C>T p.H643Y missense 0.00000824●●●●●●
324. 69407237 c.35A>G p.D12G missense 0.00000824●●●●●●
325. 68139002 c.1640T>C p.V547A missense 0.00000824●●●●●●
326. 69281656 c.523C>A p.Q175K missense 0.00000824●●●●●●
327. 68139072 c.1570G>T p.A524S missense 0.00000824●●●●●●
328. 68139030 c.1612G>T p.G538C missense 0.00000824●●●●●●
329. 69366743 c.164C>T p.A55V missense 0.00000824●●●●●●
330. 68138978 c.1664T>C p.M555T missense 0.00000824●●●●●●
331. 67829100 c.2125T>G p.C709G missense 0.00000824●●●●●●
332. 68979498 c.710G>A p.S237N missense 0.00000824●●●●●●
333. 68979474 c.734T>C p.I245T missense 0.00000824●●●●●●
334. 67680332 c.2444T>C p.M815T missense 0.00000824●●●●●●
335. 67862947 c.1945A>T p.T649S missense 0.00000824●●●●●●
336. 67862953 c.1939A>G p.S647G missense 0.00000824●●●●●●
337. 68535239 c.1091A>G p.D364G missense 0.00000824●●●●●●
338. 68139003 c.1639G>A p.V547I missense 0.00000824●●●●●●
339. 67829124 c.2101A>G p.I701V missense 0.00000824●●●●●●
340. 68138969 c.1673A>G p.Y558C missense 0.00000824●●●●●●
341. 69366755 c.152G>A p.R51H missense 0.00000824●●●●●●
342. 67748480 c.2235G>A p.M745I missense 0.00000824●●●●●●
343. 69366696 c.211G>A p.D71N missense 0.00000824●●●●●●
344. 68979529 c.679G>C p.E227Q missense 0.00000824●●●●●●
345. 67748521 c.2194A>T p.I732F missense 0.00000824●●●●●●
346. 68979415 c.793C>T p.P265S missense 0.00000824●●●●●●
347. 67726420 c.2350C>G p.Q784E missense 0.00000824●●●●●●
348. 67748520 c.2195T>C p.I732T missense 0.00000824●●●●●●
349. 69407213 c.59C>T p.T20I missense 0.00000824●●●●●●
350. 69281667 c.512A>G p.Q171R missense 0.00000824●●●●●●
351. 68139074 c.1568T>C p.I523T missense 0.00000824●●●●●●
352. 68535233 c.1097T>C p.M366T missense 0.00000824●●●●●●
353. 69366684 c.223A>C p.K75Q missense 0.00000824●●●●●●
354. 67680222 c.2554G>T p.A852S missense 0.00000824●●●●●●
355. 67862952 c.1940G>C p.S647T missense 0.00000824●●●●●●
356. 67680257 c.2519G>C p.G840A missense 0.00000824●●●●●●
357. 69281622 c.557A>T p.Y186F missense 0.00000824●●●●●●
358. 68139017 c.1625G>T p.G542V missense 0.00000824●●●●●●
359. 67680159 c.2617C>G p.R873G missense 0.00000824●●●●●●
360. 67680127 c.2649G>C p.L883F missense 0.00000824●●●●●●
361. 68979534 c.674G>T p.C225F missense 0.00000824●●●●●●
362. 67829072 c.2153T>C p.F718S missense 0.00000824●●●●●●
363. 67748500 c.2215T>C p.S739P missense 0.00000824●●●●●●
364. 67748542 c.2173C>G p.L725V missense 0.00000824●●●●●●
365. 67680308 c.2468A>C p.K823T missense 0.00000824●●●●●●
366. 68979459 c.749A>G p.N250S missense 0.00000824●●●●●●
367. 68139083 c.1559A>T p.K520M missense 0.00000824●●●●●●
368. 67862932 c.1960G>A p.E654K missense 0.00000824●●●●●●
369. 67680201 c.2575A>T p.I859F missense 0.00000824●●●●●●
370. 68138977 c.1665G>T p.M555I missense 0.00000824●●●●●●
371. 67829108 c.2117A>G p.K706R missense 0.00000824●●●●●●
372. 68138942 c.1700T>C p.V567A missense 0.00000824●●●●●●
373. 68535232 c.1098G>A p.M366I missense 0.00000824●●●●●●
374. 69366690 c.217G>A p.G73R missense 0.00000824●●●●●●
375. 68979486 c.722T>C p.V241A missense 0.00000824●●●●●●
376. 69366746 c.161G>C p.R54T missense 0.00000824●●●●●●
377. 67748466 c.2249G>T p.R750L missense 0.00000824●●●●●●
378. 67862959 c.1933G>C p.V645L missense 0.00000824●●●●●●
379. 67680269 c.2507A>G p.Q836R missense 0.00000824●●●●●●
380. 67680131 c.2645C>T p.P882L missense 0.00000824●●●●●●
381. 69281647 c.532G>C p.G178R missense 0.00000824●●●●●●
382. 68139038 c.1604G>T p.R535L missense 0.00000824●●●●●●
383. 68139018 c.1624G>A p.G542S missense 0.00000824●●●●●●
384. 67680160 c.2616A>C p.R872S 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.