CAPN1 missense variants in ExAC

CAPN1 gene summary
CAPN1 variants in

The table below lists the CAPN1 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. 64972286 c.1298G>C p.R433P missense 0.07756630●●●●●●
2. 64977890 c.2026G>A p.V676I missense 0.00263130●●●●●●
3. 64974282 c.1597C>T p.P533S missense 0.00200051●●●●●●
4. 64976845 c.1781T>C p.V594A missense 0.00191560●●●●●●
5. 64950638 c.307A>G p.T103A missense 0.00150750●●●●●●
6. 64974054 c.1474G>A p.G492R missense 0.00107602●●●●●●
7. 64953448 c.517G>A p.G173R missense 0.00074240●●●●●●
8. 64975703 c.1699C>T p.R567W missense 0.00050075●●●●●●
9. 64954711 c.785C>A p.A262D missense 0.00044328●●●●●●
10. 64950393 c.221G>A p.G74D missense 0.00040401●●●●●●
11. 64955938 c.983A>G p.K328R missense 0.00033484●●●●●●
12. 64956089 c.1037C>T p.T346I missense 0.00032728●●●●●●
13. 64975676 c.1672G>A p.D558N missense 0.00031808●●●●●●
14. 64975704 c.1700G>A p.R567Q missense 0.00031445●●●●●●
15. 64977354 c.1829T>G p.F610C missense 0.00029373●●●●●●
16. 64955493 c.911C>T p.T304M missense 0.00013495●●●●●●
17. 64973947 c.1367C>T p.P456L missense 0.00012589●●●●●●
18. 64956091 c.1039C>T p.R347C missense 0.00011749●●●●●●
19. 64974102 c.1522G>A p.D508N missense 0.00011717●●●●●●
20. 64950342 c.170G>A p.R57H missense 0.00011531●●●●●●
21. 64950642 c.311G>A p.R104H missense 0.00010768●●●●●●
22. 64953463 c.532G>T p.V178L missense 0.00010388●●●●●●
23. 64977321 c.1796G>A p.R599H missense 0.00009391●●●●●●
24. 64972199 c.1211C>A p.T404K missense 0.00009300●●●●●●
25. 64976806 c.1742G>A p.R581Q missense 0.00009181●●●●●●
26. 64950633 c.302G>C p.G101A missense 0.00009111●●●●●●
27. 64955466 c.884G>A p.R295Q missense 0.00009013●●●●●●
28. 64976836 c.1772G>A p.R591H missense 0.00008170●●●●●●
29. 64950192 c.20C>T p.T7M missense 0.00007617●●●●●●
30. 64977377 c.1852C>T p.R618W missense 0.00007540●●●●●●
31. 64973998 c.1418G>A p.R473H missense 0.00006665●●●●●●
32. 64956134 c.1082G>A p.R361Q missense 0.00006185●●●●●●
33. 64955920 c.965G>A p.R322Q missense 0.00005971●●●●●●
34. 64977372 c.1847G>A p.R616H missense 0.00005866●●●●●●
35. 64973952 c.1372G>A p.V458I missense 0.00005860●●●●●●
36. 64977520 c.1895C>T p.S632L missense 0.00005849●●●●●●
37. 64974036 c.1456C>T p.R486C missense 0.00005833●●●●●●
38. 64975691 c.1687G>A p.V563M missense 0.00005763●●●●●●
39. 64950372 c.200G>T p.S67I missense 0.00005153●●●●●●
40. 64977371 c.1846C>T p.R616C missense 0.00005028●●●●●●
41. 64955919 c.964C>T p.R322W missense 0.00004999●●●●●●
42. 64950341 c.169C>T p.R57C missense 0.00004999●●●●●●
43. 64954706 c.780G>A p.M260I missense 0.00004980●●●●●●
44. 64950989 c.382G>A p.D128N missense 0.00004979●●●●●●
45. 64953415 c.484G>A p.V162M missense 0.00004643●●●●●●
46. 64953781 c.731G>A p.R244Q missense 0.00004538●●●●●●
47. 64955459 c.877C>T p.R293W missense 0.00004497●●●●●●
48. 64977848 c.1984C>T p.R662C missense 0.00004393●●●●●●
49. 64973965 c.1385G>A p.R462H missense 0.00004174●●●●●●
50. 64973998 c.1418G>T p.R473L missense 0.00004165●●●●●●
51. 64951016 c.409C>A p.H137N missense 0.00004149●●●●●●
52. 64973188 c.1349C>T p.P450L missense 0.00004142●●●●●●
53. 64950309 c.137G>A p.R46Q missense 0.00004020●●●●●●
54. 64950195 c.23C>T p.P8L missense 0.00003642●●●●●●
55. 64956133 c.1081C>T p.R361W missense 0.00003530●●●●●●
56. 64953497 c.566C>A p.A189D missense 0.00003477●●●●●●
57. 64975719 c.1715G>C p.R572T missense 0.00003411●●●●●●
58. 64972166 c.1178T>C p.V393A missense 0.00003403●●●●●●
59. 64977325 c.1800T>A p.D600E missense 0.00003399●●●●●●
60. 64972276 c.1288C>T p.R430C missense 0.00003390●●●●●●
61. 64956092 c.1040G>A p.R347H missense 0.00003357●●●●●●
62. 64975716 c.1712A>G p.N571S missense 0.00003357●●●●●●
63. 64974108 c.1528G>A p.V510M missense 0.00003353●●●●●●
64. 64974037 c.1457G>A p.R486H missense 0.00003334●●●●●●
65. 64951020 c.413G>C p.G138A missense 0.00003320●●●●●●
66. 64950396 c.224C>A p.P75H missense 0.00003215●●●●●●
67. 64955904 c.949G>T p.V317L missense 0.00003195●●●●●●
68. 64956181 c.1129C>T p.R377W missense 0.00003048●●●●●●
69. 64950224 c.52G>T p.V18L missense 0.00002926●●●●●●
70. 64950237 c.65G>A p.R22Q missense 0.00002877●●●●●●
71. 64953787 c.737C>T p.S246F missense 0.00002756●●●●●●
72. 64950365 c.193C>A p.P65T missense 0.00002731●●●●●●
73. 64953389 c.458T>G p.L153R missense 0.00002725●●●●●●
74. 64976835 c.1771C>T p.R591C missense 0.00002719●●●●●●
75. 64977830 c.1966T>G p.Y656D missense 0.00002718●●●●●●
76. 64975679 c.1675A>G p.M559V missense 0.00002672●●●●●●
77. 64953475 c.544G>A p.E182K missense 0.00002636●●●●●●
78. 64977855 c.1991C>T p.S664L missense 0.00002631●●●●●●
79. 64978731 c.2119T>G p.W707G missense 0.00002596●●●●●●
80. 64953398 c.467T>C p.F156S missense 0.00002591●●●●●●
81. 64953717 c.667G>A p.E223K missense 0.00002581●●●●●●
82. 64956169 c.1117G>A p.G373S missense 0.00002560●●●●●●
83. 64972208 c.1220C>T p.P407L missense 0.00002534●●●●●●
84. 64972243 c.1255T>C p.F419L missense 0.00002531●●●●●●
85. 64956080 c.1028G>A p.R343Q missense 0.00002517●●●●●●
86. 64956079 c.1027C>T p.R343W missense 0.00002517●●●●●●
87. 64977499 c.1874G>A p.R625Q missense 0.00002507●●●●●●
88. 64977503 c.1878G>T p.K626N missense 0.00002507●●●●●●
89. 64974057 c.1477G>A p.E493K missense 0.00002502●●●●●●
90. 64974042 c.1462C>T p.R488C missense 0.00002501●●●●●●
91. 64973991 c.1411C>T p.R471W missense 0.00002500●●●●●●
92. 64953406 c.475T>G p.W159G missense 0.00002497●●●●●●
93. 64950380 c.208T>C p.Y70H missense 0.00002424●●●●●●
94. 64975535 c.1615T>G p.S539A missense 0.00002413●●●●●●
95. 64956193 c.1141G>A p.A381T missense 0.00002293●●●●●●
96. 64956191 c.1139C>T p.T380I missense 0.00002001●●●●●●
97. 64974285 c.1600G>T p.D534Y missense 0.00001979●●●●●●
98. 64950312 c.140T>C p.V47A missense 0.00001974●●●●●●
99. 64975548 c.1628T>C p.I543T missense 0.00001956●●●●●●
100. 64953434 c.503T>C p.L168P missense 0.00001952●●●●●●
101. 64953805 c.755T>C p.I252T missense 0.00001919●●●●●●
102. 64977819 c.1955A>G p.N652S missense 0.00001895●●●●●●
103. 64977922 c.2058C>G p.F686L missense 0.00001882●●●●●●
104. 64976799 c.1735G>T p.D579Y missense 0.00001879●●●●●●
105. 64977906 c.2042G>A p.R681Q missense 0.00001838●●●●●●
106. 64976830 c.1766C>T p.S589L missense 0.00001809●●●●●●
107. 64953780 c.730C>T p.R244W missense 0.00001807●●●●●●
108. 64950432 c.260G>A p.R87H missense 0.00001793●●●●●●
109. 64977885 c.2021A>G p.N674S missense 0.00001787●●●●●●
110. 64977876 c.2012A>C p.D671A missense 0.00001771●●●●●●
111. 64950438 c.266C>T p.T89M missense 0.00001766●●●●●●
112. 64977863 c.1999G>A p.D667N missense 0.00001760●●●●●●
113. 64953733 c.683G>A p.R228H missense 0.00001731●●●●●●
114. 64953732 c.682C>T p.R228C missense 0.00001729●●●●●●
115. 64953448 c.517G>C p.G173R missense 0.00001727●●●●●●
116. 64950335 c.163C>G p.L55V missense 0.00001711●●●●●●
117. 64977321 c.1796G>C p.R599P missense 0.00001708●●●●●●
118. 64953676 c.626G>A p.S209N missense 0.00001706●●●●●●
119. 64972291 c.1303G>A p.G435S missense 0.00001702●●●●●●
120. 64972281 c.1293G>T p.E431D missense 0.00001696●●●●●●
121. 64972231 c.1243T>G p.S415A missense 0.00001687●●●●●●
122. 64956068 c.1016G>A p.R339Q missense 0.00001677●●●●●●
123. 64977378 c.1853G>A p.R618Q missense 0.00001675●●●●●●
124. 64977546 c.1921C>T p.R641W missense 0.00001673●●●●●●
125. 64977540 c.1915G>A p.E639K missense 0.00001672●●●●●●
126. 64977526 c.1901G>A p.S634N missense 0.00001671●●●●●●
127. 64973992 c.1412G>A p.R471Q missense 0.00001667●●●●●●
128. 64974028 c.1448T>C p.V483A missense 0.00001666●●●●●●
129. 64978333 c.2108A>G p.D703G missense 0.00001664●●●●●●
130. 64950635 c.304G>A p.A102T missense 0.00001656●●●●●●
131. 64950346 c.174T>G p.D58E missense 0.00001604●●●●●●
132. 64950356 c.184C>T p.P62S missense 0.00001506●●●●●●
133. 64950357 c.185C>A p.P62H missense 0.00001475●●●●●●
134. 64956179 c.1127G>A p.R376Q missense 0.00001440●●●●●●
135. 64953473 c.542C>T p.A181V missense 0.00001353●●●●●●
136. 64956172 c.1120A>G p.T374A missense 0.00001291●●●●●●
137. 64956166 c.1114G>A p.E372K missense 0.00001149●●●●●●
138. 64955898 c.943A>G p.N315D missense 0.00001111●●●●●●
139. 64953514 c.583T>G p.Y195D missense 0.00001102●●●●●●
140. 64954692 c.766A>C p.S256R missense 0.00001068●●●●●●
141. 64955904 c.949G>A p.V317M missense 0.00001065●●●●●●
142. 64954695 c.769G>A p.V257I missense 0.00001046●●●●●●
143. 64954761 c.835G>A p.A279T missense 0.00001036●●●●●●
144. 64955910 c.955C>T p.P319S missense 0.00001034●●●●●●
145. 64954758 c.832G>C p.G278R missense 0.00001024●●●●●●
146. 64954758 c.832G>A p.G278R missense 0.00001024●●●●●●
147. 64955913 c.958T>C p.Y320H missense 0.00001019●●●●●●
148. 64956154 c.1102A>G p.T368A missense 0.00001011●●●●●●
149. 64954704 c.778A>G p.M260V missense 0.00001003●●●●●●
150. 64974287 c.1602T>G p.D534E missense 0.00000993●●●●●●
151. 64950407 c.235A>G p.K79E missense 0.00000983●●●●●●
152. 64950411 c.239C>G p.T80S missense 0.00000963●●●●●●
153. 64955939 c.984G>C p.K328N missense 0.00000956●●●●●●
154. 64976801 c.1737C>A p.D579E missense 0.00000934●●●●●●
155. 64977822 c.1958A>T p.K653M missense 0.00000933●●●●●●
156. 64977826 c.1962G>T p.K654N missense 0.00000921●●●●●●
157. 64977902 c.2038G>A p.V680M missense 0.00000914●●●●●●
158. 64956142 c.1090C>T p.R364C missense 0.00000914●●●●●●
159. 64977828 c.1964T>C p.L655P missense 0.00000913●●●●●●
160. 64950430 c.258G>T p.K86N missense 0.00000903●●●●●●
161. 64976827 c.1763A>C p.E588A missense 0.00000902●●●●●●
162. 64976827 c.1763A>G p.E588G missense 0.00000902●●●●●●
163. 64953778 c.728A>C p.E243A missense 0.00000899●●●●●●
164. 64953772 c.722C>T p.A241V missense 0.00000891●●●●●●
165. 64977875 c.2011G>A p.D671N missense 0.00000886●●●●●●
166. 64977872 c.2008G>T p.V670F missense 0.00000884●●●●●●
167. 64977870 c.2006C>A p.A669E missense 0.00000883●●●●●●
168. 64977846 c.1982C>A p.T661N missense 0.00000880●●●●●●
169. 64977863 c.1999G>C p.D667H missense 0.00000880●●●●●●
170. 64977848 c.1984C>A p.R662S missense 0.00000879●●●●●●
171. 64953762 c.712A>G p.I238V missense 0.00000878●●●●●●
172. 64977852 c.1988A>C p.Y663S missense 0.00000876●●●●●●
173. 64953745 c.695G>T p.S232I missense 0.00000868●●●●●●
174. 64978743 c.2131A>T p.T711S missense 0.00000864●●●●●●
175. 64956122 c.1070C>T p.A357V missense 0.00000859●●●●●●
176. 64972327 c.1339G>A p.E447K missense 0.00000859●●●●●●
177. 64953718 c.668A>C p.E223A missense 0.00000859●●●●●●
178. 64972324 c.1336T>C p.Y446H missense 0.00000858●●●●●●
179. 64972322 c.1334T>G p.V445G missense 0.00000858●●●●●●
180. 64953708 c.658G>A p.G220R missense 0.00000856●●●●●●
181. 64977320 c.1795C>T p.R599C missense 0.00000856●●●●●●
182. 64953673 c.623G>T p.G208V missense 0.00000854●●●●●●
183. 64956120 c.1068C>A p.D356E missense 0.00000853●●●●●●
184. 64953676 c.626G>C p.S209T missense 0.00000853●●●●●●
185. 64972300 c.1312A>G p.M438V missense 0.00000852●●●●●●
186. 64972297 c.1309G>T p.D437Y missense 0.00000852●●●●●●
187. 64953679 c.629C>T p.T210I missense 0.00000852●●●●●●
188. 64956119 c.1067A>C p.D356A missense 0.00000852●●●●●●
189. 64956118 c.1066G>A p.D356N missense 0.00000851●●●●●●
190. 64953693 c.643G>A p.E215K missense 0.00000849●●●●●●
191. 64972171 c.1183C>G p.P395A missense 0.00000849●●●●●●
192. 64972286 c.1298G>A p.R433H missense 0.00000849●●●●●●
193. 64972273 c.1285C>T p.R429C missense 0.00000848●●●●●●
194. 64972180 c.1192A>C p.K398Q missense 0.00000848●●●●●●
195. 64977329 c.1804A>T p.N602Y missense 0.00000847●●●●●●
196. 64972208 c.1220C>A p.P407Q missense 0.00000845●●●●●●
197. 64972262 c.1274A>T p.Q425L missense 0.00000845●●●●●●
198. 64972206 c.1218C>A p.D406E missense 0.00000845●●●●●●
199. 64973935 c.1355T>G p.L452R missense 0.00000845●●●●●●
200. 64973935 c.1355T>C p.L452P missense 0.00000845●●●●●●
201. 64972262 c.1274A>C p.Q425P missense 0.00000845●●●●●●
202. 64972199 c.1211C>T p.T404M missense 0.00000845●●●●●●
203. 64972259 c.1271T>C p.M424T missense 0.00000844●●●●●●
204. 64972253 c.1265C>T p.A422V missense 0.00000844●●●●●●
205. 64972222 c.1234G>A p.D412N missense 0.00000843●●●●●●
206. 64972235 c.1247G>C p.G416A missense 0.00000843●●●●●●
207. 64972225 c.1237C>T p.R413C missense 0.00000843●●●●●●
208. 64972229 c.1241A>C p.E414A missense 0.00000843●●●●●●
209. 64974119 c.1539C>A p.F513L missense 0.00000841●●●●●●
210. 64974115 c.1535G>A p.R512H missense 0.00000840●●●●●●
211. 64974114 c.1534C>T p.R512C missense 0.00000840●●●●●●
212. 64956066 c.1014C>A p.F338L missense 0.00000839●●●●●●
213. 64977562 c.1937C>T p.S646L missense 0.00000839●●●●●●
214. 64974112 c.1532T>C p.L511P missense 0.00000839●●●●●●
215. 64977369 c.1844A>T p.N615I missense 0.00000838●●●●●●
216. 64977556 c.1931T>C p.I644T missense 0.00000838●●●●●●
217. 64977369 c.1844A>G p.N615S missense 0.00000838●●●●●●
218. 64950963 c.356C>T p.A119V missense 0.00000837●●●●●●
219. 64973952 c.1372G>C p.V458L missense 0.00000837●●●●●●
220. 64951049 c.442A>C p.I148L missense 0.00000837●●●●●●
221. 64974096 c.1516G>A p.E506K missense 0.00000836●●●●●●
222. 64977544 c.1919T>C p.M640T missense 0.00000836●●●●●●
223. 64977492 c.1867A>G p.I623V missense 0.00000836●●●●●●
224. 64977534 c.1909G>A p.A637T missense 0.00000836●●●●●●
225. 64977498 c.1873C>T p.R625W missense 0.00000836●●●●●●
226. 64973964 c.1384C>T p.R462C missense 0.00000835●●●●●●
227. 64951046 c.439G>A p.G147S missense 0.00000835●●●●●●
228. 64973985 c.1405G>C p.A469P missense 0.00000834●●●●●●
229. 64974051 c.1471C>G p.P491A missense 0.00000834●●●●●●
230. 64951043 c.436G>A p.A146T missense 0.00000834●●●●●●
231. 64973980 c.1400C>A p.A467D missense 0.00000834●●●●●●
232. 64973995 c.1415C>T p.A472V missense 0.00000833●●●●●●
233. 64974000 c.1420T>G p.S474A missense 0.00000833●●●●●●
234. 64974001 c.1421C>T p.S474L missense 0.00000833●●●●●●
235. 64973997 c.1417C>T p.R473C missense 0.00000833●●●●●●
236. 64978318 c.2093G>C p.G698A missense 0.00000832●●●●●●
237. 64978338 c.2113T>C p.F705L missense 0.00000832●●●●●●
238. 64978321 c.2096T>C p.V699A missense 0.00000832●●●●●●
239. 64978323 c.2098G>T p.V700L missense 0.00000832●●●●●●
240. 64978296 c.2071A>T p.T691S missense 0.00000832●●●●●●
241. 64951014 c.407C>T p.P136L missense 0.00000830●●●●●●
242. 64951005 c.398G>A p.R133Q missense 0.00000830●●●●●●
243. 64951018 c.411C>A p.H137Q missense 0.00000830●●●●●●
244. 64950652 c.321C>G p.I107M missense 0.00000829●●●●●●
245. 64950603 c.272T>C p.L91P missense 0.00000828●●●●●●
246. 64973192 c.1353G>C p.E451D missense 0.00000828●●●●●●
247. 64950611 c.280A>T p.N94Y missense 0.00000828●●●●●●
248. 64950641 c.310C>T p.R104C missense 0.00000828●●●●●●
249. 64950650 c.319A>T p.I107F missense 0.00000828●●●●●●
250. 64950618 c.287A>C p.Q96P missense 0.00000828●●●●●●
251. 64973181 c.1342G>A p.V448I missense 0.00000828●●●●●●

* 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.