BAG3 missense variants in ExAC

BAG3 gene summary
BAG3 variants in

The table below lists the BAG3 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. 121429633 c.451T>C p.C151R missense 0.17674243●●●●●●
2. 121436286 c.1220C>T p.P407L missense 0.11405564●●●●●●
3. 121429394 c.212G>A p.R71Q missense 0.02011897●●●●●●
4. 121429645 c.463G>A p.A155T missense 0.00296261●●●●●●
5. 121429369 c.187C>G p.P63A missense 0.00157456●●●●●●
6. 121436204 c.1138C>T p.P380S missense 0.00148297●●●●●●
7. 121432031 c.772C>T p.R258W missense 0.00116699●●●●●●
8. 121429431 c.249C>A p.H83Q missense 0.00086505●●●●●●
9. 121432157 c.898G>A p.D300N missense 0.00086290●●●●●●
10. 121429462 c.280A>T p.I94F missense 0.00075798●●●●●●
11. 121411212 c.25A>G p.M9V missense 0.00051844●●●●●●
12. 121436306 c.1240G>A p.E414K missense 0.00030527●●●●●●
13. 121429412 c.230C>T p.P77L missense 0.00028835●●●●●●
14. 121436502 c.1436C>T p.A479V missense 0.00024712●●●●●●
15. 121431912 c.653G>A p.R218Q missense 0.00019896●●●●●●
16. 121436725 c.1659A>T p.E553D missense 0.00019857●●●●●●
17. 121436600 c.1534C>T p.P512S missense 0.00019775●●●●●●
18. 121432080 c.821C>T p.S274L missense 0.00014921●●●●●●
19. 121436654 c.1588G>A p.V530M missense 0.00014848●●●●●●
20. 121436700 c.1634C>G p.P545R missense 0.00014050●●●●●●
21. 121429582 c.400T>A p.S134T missense 0.00013263●●●●●●
22. 121432086 c.827G>A p.R276Q missense 0.00012431●●●●●●
23. 121429393 c.211C>T p.R71W missense 0.00012358●●●●●●
24. 121429394 c.212G>T p.R71L missense 0.00012358●●●●●●
25. 121429597 c.415C>T p.R139W missense 0.00010807●●●●●●
26. 121436009 c.943T>A p.S315T missense 0.00008248●●●●●●
27. 121436280 c.1214C>T p.A405V missense 0.00008247●●●●●●
28. 121436387 c.1321A>G p.N441D missense 0.00008239●●●●●●
29. 121411200 c.13A>G p.T5A missense 0.00007666●●●●●●
30. 121431813 c.554C>T p.S185L missense 0.00007635●●●●●●
31. 121431833 c.574G>A p.G192S missense 0.00007604●●●●●●
32. 121432151 c.892G>A p.V298M missense 0.00007464●●●●●●
33. 121432131 c.872C>T p.S291L missense 0.00007454●●●●●●
34. 121432044 c.785C>T p.A262V missense 0.00007452●●●●●●
35. 121429642 c.460G>A p.V154M missense 0.00006806●●●●●●
36. 121431911 c.652C>T p.R218W missense 0.00006633●●●●●●
37. 121436523 c.1457A>G p.K486R missense 0.00006590●●●●●●
38. 121435983 c.917T>C p.M306T missense 0.00005788●●●●●●
39. 121436232 c.1166G>A p.S389N missense 0.00005770●●●●●●
40. 121431768 c.509G>A p.R170Q missense 0.00005119●●●●●●
41. 121432140 c.881G>A p.R294H missense 0.00004971●●●●●●
42. 121432113 c.854C>T p.T285M missense 0.00004965●●●●●●
43. 121436691 c.1625C>T p.A542V missense 0.00004957●●●●●●
44. 121429504 c.322G>A p.V108M missense 0.00004945●●●●●●
45. 121429652 c.470C>T p.A157V missense 0.00004349●●●●●●
46. 121432002 c.743A>G p.H248R missense 0.00004133●●●●●●
47. 121436093 c.1027C>T p.R343C missense 0.00004119●●●●●●
48. 121411221 c.34G>A p.V12M missense 0.00003657●●●●●●
49. 121411254 c.67C>T p.P23S missense 0.00003598●●●●●●
50. 121429667 c.485C>T p.P162L missense 0.00003544●●●●●●
51. 121429649 c.467C>T p.A156V missense 0.00003467●●●●●●
52. 121431875 c.616A>C p.I206L missense 0.00003337●●●●●●
53. 121432041 c.782G>A p.R261Q missense 0.00003311●●●●●●
54. 121436739 c.1673C>T p.A558V missense 0.00003311●●●●●●
55. 121429363 c.181G>A p.E61K missense 0.00003299●●●●●●
56. 121429519 c.337G>A p.V113I missense 0.00003298●●●●●●
57. 121429498 c.316C>T p.R106W missense 0.00003297●●●●●●
58. 121436027 c.961C>T p.P321S missense 0.00003297●●●●●●
59. 121429382 c.200A>G p.N67S missense 0.00003296●●●●●●
60. 121436489 c.1423G>A p.D475N missense 0.00003296●●●●●●
61. 121436094 c.1028G>A p.R343H missense 0.00003295●●●●●●
62. 121436100 c.1034A>T p.E345V missense 0.00003295●●●●●●
63. 121411320 c.133C>T p.R45C missense 0.00002923●●●●●●
64. 121429681 c.499G>A p.G167R missense 0.00002744●●●●●●
65. 121429676 c.494C>T p.S165F missense 0.00002701●●●●●●
66. 121429655 c.473C>T p.A158V missense 0.00002620●●●●●●
67. 121429649 c.467C>G p.A156G missense 0.00002600●●●●●●
68. 121431767 c.508C>T p.R170W missense 0.00002561●●●●●●
69. 121429634 c.452G>A p.C151Y missense 0.00002527●●●●●●
70. 121431904 c.645C>A p.N215K missense 0.00002490●●●●●●
71. 121432092 c.833G>A p.G278D missense 0.00002487●●●●●●
72. 121432040 c.781C>T p.R261W missense 0.00002483●●●●●●
73. 121431938 c.679C>G p.Q227E missense 0.00002482●●●●●●
74. 121429550 c.368G>A p.R123Q missense 0.00002478●●●●●●
75. 121435992 c.926G>A p.R309Q missense 0.00002477●●●●●●
76. 121436297 c.1231G>A p.G411R missense 0.00002475●●●●●●
77. 121436644 c.1578G>T p.E526D missense 0.00002474●●●●●●
78. 121436633 c.1567G>A p.A523T missense 0.00002473●●●●●●
79. 121429373 c.191C>T p.S64F missense 0.00002473●●●●●●
80. 121429471 c.289C>T p.P97S missense 0.00002472●●●●●●
81. 121436034 c.968G>A p.S323N missense 0.00002472●●●●●●
82. 121436223 c.1157C>A p.S386Y missense 0.00002472●●●●●●
83. 121411354 c.167C>G p.S56C missense 0.00002393●●●●●●
84. 121411314 c.127A>G p.N43D missense 0.00001956●●●●●●
85. 121411297 c.110C>T p.P37L missense 0.00001908●●●●●●
86. 121429661 c.479C>T p.A160V missense 0.00001764●●●●●●
87. 121431842 c.583A>G p.S195G missense 0.00001686●●●●●●
88. 121431848 c.589G>A p.G197S missense 0.00001684●●●●●●
89. 121431870 c.611G>T p.G204V missense 0.00001672●●●●●●
90. 121429598 c.416G>A p.R139Q missense 0.00001663●●●●●●
91. 121436759 c.1693A>G p.M565V missense 0.00001656●●●●●●
92. 121432032 c.773G>A p.R258Q missense 0.00001655●●●●●●
93. 121436477 c.1411G>A p.E471K missense 0.00001651●●●●●●
94. 121436316 c.1250C>A p.P417Q missense 0.00001650●●●●●●
95. 121429530 c.348G>C p.Q116H missense 0.00001650●●●●●●
96. 121429511 c.329C>G p.P110R missense 0.00001649●●●●●●
97. 121436250 c.1184G>A p.R395K missense 0.00001649●●●●●●
98. 121436649 c.1583G>A p.G528D missense 0.00001649●●●●●●
99. 121436624 c.1558C>T p.P520S missense 0.00001648●●●●●●
100. 121436054 c.988C>T p.P330S missense 0.00001648●●●●●●
101. 121436233 c.1167T>G p.S389R missense 0.00001648●●●●●●
102. 121436589 c.1523A>G p.Y508C missense 0.00001648●●●●●●
103. 121436049 c.983T>C p.V328A missense 0.00001648●●●●●●
104. 121436620 c.1554T>A p.D518E missense 0.00001648●●●●●●
105. 121436207 c.1141T>C p.S381P missense 0.00001648●●●●●●
106. 121436187 c.1121C>G p.P374R missense 0.00001648●●●●●●
107. 121436484 c.1418G>A p.R473Q missense 0.00001648●●●●●●
108. 121411360 c.173G>T p.G58V missense 0.00001294●●●●●●
109. 121411354 c.167C>A p.S56Y missense 0.00001197●●●●●●
110. 121411340 c.153C>G p.D51E missense 0.00001073●●●●●●
111. 121411338 c.151G>A p.D51N missense 0.00001054●●●●●●
112. 121411301 c.114C>A p.F38L missense 0.00000964●●●●●●
113. 121411296 c.109C>T p.P37S missense 0.00000959●●●●●●
114. 121411205 c.18C>G p.H6Q missense 0.00000943●●●●●●
115. 121411290 c.103G>A p.G35S missense 0.00000936●●●●●●
116. 121411215 c.28A>G p.M10V missense 0.00000921●●●●●●
117. 121411275 c.88A>G p.I30V missense 0.00000905●●●●●●
118. 121411242 c.55C>T p.R19C missense 0.00000901●●●●●●
119. 121429669 c.487C>T p.P163S missense 0.00000887●●●●●●
120. 121429651 c.469G>C p.A157P missense 0.00000869●●●●●●
121. 121431767 c.508C>G p.R170G missense 0.00000854●●●●●●
122. 121431777 c.518C>G p.S173C missense 0.00000852●●●●●●
123. 121429641 c.459G>C p.Q153H missense 0.00000851●●●●●●
124. 121431795 c.536G>A p.C179Y missense 0.00000850●●●●●●
125. 121431806 c.547T>C p.S183P missense 0.00000849●●●●●●
126. 121431816 c.557C>T p.A186V missense 0.00000847●●●●●●
127. 121431833 c.574G>T p.G192C missense 0.00000845●●●●●●
128. 121431837 c.578G>A p.R193K missense 0.00000844●●●●●●
129. 121431843 c.584G>A p.S195N missense 0.00000843●●●●●●
130. 121431849 c.590G>A p.G197D missense 0.00000842●●●●●●
131. 121431854 c.595C>T p.H199Y missense 0.00000841●●●●●●
132. 121431859 c.600G>C p.Q200H missense 0.00000840●●●●●●
133. 121431864 c.605C>T p.P202L missense 0.00000840●●●●●●
134. 121431872 c.613T>C p.Y205H missense 0.00000836●●●●●●
135. 121431873 c.614A>T p.Y205F missense 0.00000835●●●●●●
136. 121431879 c.620C>T p.S207F missense 0.00000834●●●●●●
137. 121429601 c.419G>A p.G140D missense 0.00000832●●●●●●
138. 121429609 c.427G>A p.E143K missense 0.00000832●●●●●●
139. 121429600 c.418G>A p.G140S missense 0.00000831●●●●●●
140. 121436790 c.1724C>T p.P575L missense 0.00000831●●●●●●
141. 121431893 c.634C>T p.H212Y missense 0.00000831●●●●●●
142. 121436786 c.1720G>T p.A574S missense 0.00000830●●●●●●
143. 121431905 c.646G>A p.V216I missense 0.00000830●●●●●●
144. 121436778 c.1712A>G p.N571S missense 0.00000830●●●●●●
145. 121429592 c.410C>G p.P137R missense 0.00000830●●●●●●
146. 121436784 c.1718C>T p.A573V missense 0.00000830●●●●●●
147. 121432163 c.904C>G p.P302A missense 0.00000830●●●●●●
148. 121432089 c.830A>T p.E277V missense 0.00000829●●●●●●
149. 121432134 c.875C>T p.P292L missense 0.00000828●●●●●●
150. 121429571 c.389C>A p.A130D missense 0.00000828●●●●●●
151. 121432046 c.787G>A p.A263T missense 0.00000828●●●●●●
152. 121431927 c.668C>G p.P223R missense 0.00000828●●●●●●
153. 121429574 c.392C>T p.P131L missense 0.00000828●●●●●●
154. 121432095 c.836C>T p.S279L missense 0.00000828●●●●●●
155. 121432053 c.794C>T p.P265L missense 0.00000828●●●●●●
156. 121431927 c.668C>T p.P223L missense 0.00000828●●●●●●
157. 121436756 c.1690A>G p.S564G missense 0.00000828●●●●●●
158. 121432139 c.880C>T p.R294C missense 0.00000828●●●●●●
159. 121429573 c.391C>G p.P131A missense 0.00000828●●●●●●
160. 121432061 c.802T>C p.S268P missense 0.00000828●●●●●●
161. 121432122 c.863A>T p.H288L missense 0.00000828●●●●●●
162. 121431954 c.695A>C p.H232P missense 0.00000827●●●●●●
163. 121432029 c.770C>T p.P257L missense 0.00000827●●●●●●
164. 121431963 c.704C>T p.A235V missense 0.00000827●●●●●●
165. 121436717 c.1651C>G p.Q551E missense 0.00000827●●●●●●
166. 121432035 c.776C>T p.P259L missense 0.00000827●●●●●●
167. 121432001 c.742C>G p.H248D missense 0.00000827●●●●●●
168. 121431951 c.692C>T p.T231M missense 0.00000827●●●●●●
169. 121436699 c.1633C>G p.P545A missense 0.00000826●●●●●●
170. 121431996 c.737T>C p.V246A missense 0.00000826●●●●●●
171. 121436689 c.1623T>A p.N541K missense 0.00000826●●●●●●
172. 121436690 c.1624G>T p.A542S missense 0.00000826●●●●●●
173. 121436354 c.1288G>A p.E430K missense 0.00000825●●●●●●
174. 121436330 c.1264G>A p.V422M missense 0.00000825●●●●●●
175. 121429523 c.341A>G p.Y114C missense 0.00000825●●●●●●
176. 121436295 c.1229C>G p.P410R missense 0.00000825●●●●●●
177. 121436652 c.1586C>T p.A529V missense 0.00000825●●●●●●
178. 121436355 c.1289A>T p.E430V missense 0.00000825●●●●●●
179. 121436316 c.1250C>T p.P417L missense 0.00000825●●●●●●
180. 121436268 c.1202C>G p.A401G missense 0.00000825●●●●●●
181. 121436652 c.1586C>G p.A529G missense 0.00000825●●●●●●
182. 121436474 c.1408C>A p.P470T missense 0.00000825●●●●●●
183. 121436295 c.1229C>T p.P410L missense 0.00000825●●●●●●
184. 121429525 c.343C>T p.P115S missense 0.00000825●●●●●●
185. 121436330 c.1264G>C p.V422L missense 0.00000825●●●●●●
186. 121436280 c.1214C>G p.A405G missense 0.00000825●●●●●●
187. 121436648 c.1582G>C p.G528R missense 0.00000825●●●●●●
188. 121436475 c.1409C>A p.P470H missense 0.00000825●●●●●●
189. 121429532 c.350C>T p.P117L missense 0.00000825●●●●●●
190. 121436312 c.1246C>G p.P416A missense 0.00000825●●●●●●
191. 121436289 c.1223C>T p.P408L missense 0.00000825●●●●●●
192. 121429510 c.328C>A p.P110T missense 0.00000824●●●●●●
193. 121429502 c.320A>C p.Q107P missense 0.00000824●●●●●●
194. 121436225 c.1159C>T p.P387S missense 0.00000824●●●●●●
195. 121429465 c.283C>T p.P95S missense 0.00000824●●●●●●
196. 121429446 c.264G>T p.Q88H missense 0.00000824●●●●●●
197. 121429378 c.196G>C p.A66P missense 0.00000824●●●●●●
198. 121429456 c.274G>C p.G92R missense 0.00000824●●●●●●
199. 121436639 c.1573A>G p.M525V missense 0.00000824●●●●●●
200. 121436169 c.1103C>T p.P368L missense 0.00000824●●●●●●
201. 121429403 c.221C>G p.S74C missense 0.00000824●●●●●●
202. 121436564 c.1498G>C p.D500H missense 0.00000824●●●●●●
203. 121436091 c.1025T>C p.I342T missense 0.00000824●●●●●●
204. 121436414 c.1348A>G p.K450E missense 0.00000824●●●●●●
205. 121429486 c.304G>A p.G102S missense 0.00000824●●●●●●
206. 121436217 c.1151C>G p.P384R missense 0.00000824●●●●●●
207. 121436198 c.1132C>T p.P378S missense 0.00000824●●●●●●
208. 121429432 c.250C>T p.P84S missense 0.00000824●●●●●●
209. 121436136 c.1070C>T p.P357L missense 0.00000824●●●●●●
210. 121436106 c.1040A>T p.D347V missense 0.00000824●●●●●●
211. 121436151 c.1085T>C p.V362A missense 0.00000824●●●●●●
212. 121436033 c.967A>G p.S323G missense 0.00000824●●●●●●
213. 121436513 c.1447G>A p.G483S missense 0.00000824●●●●●●
214. 121436490 c.1424A>G p.D475G missense 0.00000824●●●●●●
215. 121436231 c.1165A>G p.S389G missense 0.00000824●●●●●●
216. 121429451 c.269G>A p.R90Q missense 0.00000824●●●●●●
217. 121429406 c.224G>C p.R75T missense 0.00000824●●●●●●
218. 121429382 c.200A>C p.N67T missense 0.00000824●●●●●●
219. 121429510 c.328C>G p.P110A missense 0.00000824●●●●●●
220. 121436636 c.1570A>G p.I524V missense 0.00000824●●●●●●
221. 121436171 c.1105G>C p.A369P missense 0.00000824●●●●●●
222. 121436597 c.1531C>G p.Q511E missense 0.00000824●●●●●●
223. 121436571 c.1505C>G p.P502R missense 0.00000824●●●●●●
224. 121429504 c.322G>C p.V108L missense 0.00000824●●●●●●
225. 121429489 c.307G>A p.A103T missense 0.00000824●●●●●●
226. 121429497 c.315C>G p.N105K missense 0.00000824●●●●●●
227. 121436217 c.1151C>T p.P384L missense 0.00000824●●●●●●
228. 121429436 c.254T>C p.V85A missense 0.00000824●●●●●●
229. 121436625 c.1559C>A p.P520Q missense 0.00000824●●●●●●
230. 121436141 c.1075T>C p.S359P missense 0.00000824●●●●●●
231. 121436115 c.1049C>T p.P350L missense 0.00000824●●●●●●
232. 121436060 c.994C>A p.L332I missense 0.00000824●●●●●●
233. 121436385 c.1319A>C p.D440A missense 0.00000824●●●●●●
234. 121429517 c.335A>G p.H112R missense 0.00000824●●●●●●
235. 121429471 c.289C>G p.P97A missense 0.00000824●●●●●●
236. 121436637 c.1571T>C p.I524T missense 0.00000824●●●●●●
237. 121436175 c.1109C>T p.P370L missense 0.00000824●●●●●●
238. 121429406 c.224G>T p.R75M missense 0.00000824●●●●●●
239. 121436205 c.1139C>T p.P380L missense 0.00000824●●●●●●
240. 121436495 c.1429C>T p.R477C missense 0.00000824●●●●●●
241. 121429503 c.321G>C p.Q107H missense 0.00000824●●●●●●
242. 121429438 c.256T>C p.Y86H missense 0.00000824●●●●●●
243. 121429457 c.275G>A p.G92D missense 0.00000824●●●●●●
244. 121436631 c.1565A>T p.Q522L missense 0.00000824●●●●●●
245. 121436165 c.1099C>G p.P367A missense 0.00000824●●●●●●
246. 121436534 c.1468A>G p.I490V missense 0.00000824●●●●●●
247. 121436081 c.1015A>G p.I339V missense 0.00000824●●●●●●
248. 121436403 c.1337A>G p.K446R missense 0.00000824●●●●●●
249. 121436253 c.1187C>T p.A396V missense 0.00000824●●●●●●
250. 121436238 c.1172C>G p.A391G missense 0.00000824●●●●●●
251. 121429484 c.302A>G p.E101G missense 0.00000824●●●●●●
252. 121429417 c.235G>A p.A79T missense 0.00000824●●●●●●
253. 121436594 c.1528C>T p.L510F missense 0.00000824●●●●●●
254. 121436094 c.1028G>T p.R343L missense 0.00000824●●●●●●
255. 121436618 c.1552G>A p.D518N missense 0.00000824●●●●●●
256. 121436124 c.1058A>G p.Q353R missense 0.00000824●●●●●●
257. 121436208 c.1142C>G p.S381C missense 0.00000824●●●●●●
258. 121436512 c.1446C>G p.D482E missense 0.00000824●●●●●●
259. 121436031 c.965A>G p.E322G 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.