CCT5 variants in ExAC

CCT5 gene summary
CCT5 variants in

The table below lists the CCT5 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. 10262740 c.1317+10C>A splice site 0.78943857●●●●●●
2. 10256172 c.437A>T p.E146V missense 0.02400410●●●●●●
3. 10261764 c.1086C>G p.I362M missense 0.00541133●●●●●●
4. 10261748 c.1070G>A p.G357D missense 0.00071657●●●●●●
5. 10256211 c.476T>A p.I159K missense 0.00039294●●●●●●
6. 10258341 c.649G>A p.G217S missense 0.00030486●●●●●●
7. 10254325 c.166+8delT splice site 0.00020667●●●●●●
8. 10250538 c.86T>C p.M29T missense 0.00013399●●●●●●
9. 10261753 c.1075G>A p.V359I missense 0.00013178●●●●●●
10. 10264788 c.1519A>G p.I507V missense 0.00012358●●●●●●
11. 10263371 c.1443G>C p.Q481H missense 0.00010713●●●●●●
12. 10262595 c.1182C>A splice site 0.00009886●●●●●●
13. 10263402 c.1474G>A p.D492N missense 0.00009102●●●●●●
14. 10262696 c.1283C>G p.S428C missense 0.00009060●●●●●●
15. 10262589 c.1180-4T>C splice site 0.00007414●●●●●●
16. 10256159 c.424C>T p.R142C missense 0.00006601●●●●●●
17. 10260908 c.878A>T p.K293I missense 0.00006591●●●●●●
18. 10256204 c.469G>T p.V157F missense 0.00005838●●●●●●
19. 10254290 c.139A>G p.T47A missense 0.00005770●●●●●●
20. 10262723 c.1310C>T p.A437V missense 0.00005765●●●●●●
21. 10258647 c.873A>C p.Q291H missense 0.00005002●●●●●●
22. 10258220 c.531-3C>T splice site 0.00004983●●●●●●
23. 10263402 c.1474G>C p.D492H missense 0.00004965●●●●●●
24. 10261667 c.994-5A>C splice site 0.00004953●●●●●●
25. 10254251 c.106-6C>T splice site 0.00004951●●●●●●
26. 10254268 c.117G>A p.M39I missense 0.00004947●●●●●●
27. 10256175 c.440A>G p.H147R missense 0.00004138●●●●●●
28. 10258511 c.737C>T p.A246V missense 0.00004120●●●●●●
29. 10258374 c.682G>A p.V228M missense 0.00004120●●●●●●
30. 10263319 c.1391A>G p.E464G missense 0.00004119●●●●●●
31. 10260925 c.895C>G p.L299V missense 0.00004118●●●●●●
32. 10256192 c.457G>A p.D153N missense 0.00003321●●●●●●
33. 10256162 c.427G>A p.V143I missense 0.00003306●●●●●●
34. 10258518 c.744T>G p.I248M missense 0.00003296●●●●●●
35. 10258522 c.748A>G p.I250V missense 0.00003296●●●●●●
36. 10263348 c.1420A>G p.M474V missense 0.00003295●●●●●●
37. 10262612 c.1199G>T p.R400L missense 0.00003295●●●●●●
38. 10261729 c.1051G>A p.E351K missense 0.00003295●●●●●●
39. 10264794 c.1525A>G p.T509A missense 0.00003295●●●●●●
40. 10250562 c.105+5T>G splice site 0.00002576●●●●●●
41. 10256222 c.487G>A p.E163K missense 0.00002524●●●●●●
42. 10256210 c.475A>C p.I159L missense 0.00002507●●●●●●
43. 10256186 c.451A>G p.I151V missense 0.00002488●●●●●●
44. 10250471 c.19C>G p.L7V missense 0.00002486●●●●●●
45. 10256176 c.441C>G p.H147Q missense 0.00002483●●●●●●
46. 10258588 c.814G>A p.E272K missense 0.00002481●●●●●●
47. 10254316 c.165T>C splice site 0.00002476●●●●●●
48. 10256160 c.425G>A p.R142H missense 0.00002475●●●●●●
49. 10258330 c.638G>A p.G213D missense 0.00002472●●●●●●
50. 10258288 c.596T>C p.M199T missense 0.00002472●●●●●●
51. 10261810 c.1132A>G p.K378E missense 0.00002471●●●●●●
52. 10263414 c.1486A>G p.K496E missense 0.00001667●●●●●●
53. 10258642 c.868C>G p.Q290E missense 0.00001666●●●●●●
54. 10256198 c.463G>A p.V155I missense 0.00001664●●●●●●
55. 10256183 c.448A>G p.K150E missense 0.00001658●●●●●●
56. 10256168 c.433A>G p.I145V missense 0.00001654●●●●●●
57. 10256117 c.382A>G p.I128V missense 0.00001652●●●●●●
58. 10261668 c.994-4T>G splice site 0.00001651●●●●●●
59. 10258240 c.548G>A p.R183Q missense 0.00001651●●●●●●
60. 10254314 c.163A>C p.N55H missense 0.00001650●●●●●●
61. 10261672 c.994C>A p.L332M missense 0.00001650●●●●●●
62. 10261854 c.1176G>T p.K392N missense 0.00001650●●●●●●
63. 10261702 c.1024G>A p.V342I missense 0.00001648●●●●●●
64. 10264783 c.1514A>G p.H505R missense 0.00001648●●●●●●
65. 10264818 c.1549A>C p.I517L missense 0.00001648●●●●●●
66. 10258367 c.675T>G p.I225M missense 0.00001648●●●●●●
67. 10254857 c.238A>T p.M80L missense 0.00001647●●●●●●
68. 10262729 c.1316A>C p.K439T missense 0.00001647●●●●●●
69. 10261799 c.1121T>C p.I374T missense 0.00001647●●●●●●
70. 10262606 c.1193C>T p.A398V missense 0.00001647●●●●●●
71. 10261717 c.1039G>C p.E347Q missense 0.00001647●●●●●●
72. 10261724 c.1046C>T p.T349I missense 0.00001647●●●●●●
73. 10254788 c.169C>T p.L57F missense 0.00001647●●●●●●
74. 10262642 c.1229G>A p.R410Q missense 0.00001647●●●●●●
75. 10254872 c.253C>G p.H85D missense 0.00001647●●●●●●
76. 10262656 c.1243G>A p.D415N missense 0.00001647●●●●●●
77. 10263310 c.1382C>T p.A461V missense 0.00001647●●●●●●
78. 10261768 c.1090T>C p.F364L missense 0.00001647●●●●●●
79. 10262683 c.1270G>T p.A424S missense 0.00001647●●●●●●
80. 10263274 c.1346G>A p.R449K missense 0.00001647●●●●●●
81. 10256255 c.520G>A p.G174S missense 0.00000910●●●●●●
82. 10263433 c.1498+7A>C splice site 0.00000874●●●●●●
83. 10256243 c.508A>G p.K170E missense 0.00000871●●●●●●
84. 10263432 c.1498+6G>C splice site 0.00000867●●●●●●
85. 10256234 c.499C>G p.Q167E missense 0.00000854●●●●●●
86. 10250541 c.89G>A p.G30E missense 0.00000839●●●●●●
87. 10256219 c.484A>G p.T162A missense 0.00000839●●●●●●
88. 10250537 c.85A>C p.M29L missense 0.00000837●●●●●●
89. 10258647 c.873A>T p.Q291H missense 0.00000834●●●●●●
90. 10250528 c.76T>A p.S26T missense 0.00000834●●●●●●
91. 10250526 c.74A>G p.K25R missense 0.00000833●●●●●●
92. 10256202 c.467T>C p.L156P missense 0.00000833●●●●●●
93. 10250521 c.69C>A p.D23E missense 0.00000832●●●●●●
94. 10250522 c.70C>A p.R24S missense 0.00000832●●●●●●
95. 10263412 c.1484A>T p.H495L missense 0.00000832●●●●●●
96. 10256195 c.460A>G p.S154G missense 0.00000831●●●●●●
97. 10256082 c.347T>C p.L116S missense 0.00000831●●●●●●
98. 10250519 c.67G>C p.D23H missense 0.00000831●●●●●●
99. 10256192 c.457G>T p.D153Y missense 0.00000830●●●●●●
100. 10250453 c.1A>G p.Met1? missense 0.00000829●●●●●●
101. 10250479 c.27C>G p.F9L missense 0.00000829●●●●●●
102. 10250469 c.17C>T p.T6I missense 0.00000829●●●●●●
103. 10258610 c.836A>C p.K279T missense 0.00000829●●●●●●
104. 10250459 c.7T>C p.S3P missense 0.00000828●●●●●●
105. 10256092 c.357A>C p.E119D missense 0.00000828●●●●●●
106. 10256168 c.433A>C p.I145L missense 0.00000827●●●●●●
107. 10256105 c.370C>G p.L124V missense 0.00000827●●●●●●
108. 10256169 c.434T>C p.I145T missense 0.00000827●●●●●●
109. 10256162 c.427G>T p.V143F missense 0.00000827●●●●●●
110. 10256171 c.436G>C p.E146Q missense 0.00000827●●●●●●
111. 10258591 c.817G>C p.D273H missense 0.00000827●●●●●●
112. 10263399 c.1471A>G p.I491V missense 0.00000827●●●●●●
113. 10258583 c.809C>G p.S270C missense 0.00000826●●●●●●
114. 10261666 c.994-6A>C splice site 0.00000826●●●●●●
115. 10254311 c.160C>A p.P54T missense 0.00000825●●●●●●
116. 10258552 c.778C>G p.P260A missense 0.00000825●●●●●●
117. 10256135 c.400G>A p.A134T missense 0.00000825●●●●●●
118. 10261684 c.1006G>A p.A336T missense 0.00000825●●●●●●
119. 10258561 c.787A>G p.K263E missense 0.00000825●●●●●●
120. 10256138 c.403G>A p.D135N missense 0.00000825●●●●●●
121. 10263372 c.1444G>A p.V482M missense 0.00000824●●●●●●
122. 10261750 c.1072C>T p.L358F missense 0.00000824●●●●●●
123. 10263306 c.1378A>G p.M460V missense 0.00000824●●●●●●
124. 10258369 c.677A>G p.K226R missense 0.00000824●●●●●●
125. 10254885 c.266A>G p.K89R missense 0.00000824●●●●●●
126. 10264884 c.1615T>C p.S539P missense 0.00000824●●●●●●
127. 10262687 c.1274C>T p.A425V missense 0.00000824●●●●●●
128. 10264770 c.1501A>G p.M501V missense 0.00000824●●●●●●
129. 10261007 c.977G>A p.G326E missense 0.00000824●●●●●●
130. 10254857 c.238A>G p.M80V missense 0.00000824●●●●●●
131. 10258407 c.715A>G p.M239V missense 0.00000824●●●●●●
132. 10263277 c.1349C>T p.A450V missense 0.00000824●●●●●●
133. 10254806 c.187G>T p.D63Y missense 0.00000824●●●●●●
134. 10262663 c.1250G>A p.R417H missense 0.00000824●●●●●●
135. 10261761 c.1083G>T p.E361D missense 0.00000824●●●●●●
136. 10263328 c.1400G>C p.G467A missense 0.00000824●●●●●●
137. 10263309 c.1381G>T p.A461S missense 0.00000824●●●●●●
138. 10258380 c.688G>A p.V230M missense 0.00000824●●●●●●
139. 10254907 c.288G>C p.K96N missense 0.00000824●●●●●●
140. 10263250 c.1322C>A p.P441H missense 0.00000824●●●●●●
141. 10262696 c.1283C>A p.S428Y missense 0.00000824●●●●●●
142. 10258422 c.723+7C>T splice site 0.00000824●●●●●●
143. 10260965 c.935_938delACTT p.Leu313PhefsTer12 frameshift 0.00000824●●●●●●
144. 10264785 c.1516G>A p.V506I missense 0.00000824●●●●●●
145. 10264771 c.1502T>C p.M501T missense 0.00000824●●●●●●
146. 10263357 c.1429G>C p.V477L missense 0.00000824●●●●●●
147. 10262738 c.1317+8A>T splice site 0.00000824●●●●●●
148. 10263375 c.1447A>G p.K483E missense 0.00000824●●●●●●
149. 10258359 c.667A>G p.K223E missense 0.00000824●●●●●●
150. 10254861 c.242T>C p.M81T missense 0.00000824●●●●●●
151. 10262651 c.1238T>C p.I413T missense 0.00000824●●●●●●
152. 10263307 c.1379T>C p.M460T missense 0.00000824●●●●●●
153. 10263285 c.1357G>A p.D453N missense 0.00000824●●●●●●
154. 10254831 c.212C>G p.T71S missense 0.00000824●●●●●●
155. 10264849 c.1580T>G p.I527S missense 0.00000824●●●●●●
156. 10262672 c.1259A>G p.Y420C missense 0.00000824●●●●●●
157. 10261766 c.1088C>T p.S363L missense 0.00000824●●●●●●
158. 10258384 c.692A>G p.D231G missense 0.00000824●●●●●●
159. 10263312 c.1384C>T p.L462F missense 0.00000824●●●●●●
160. 10263331 c.1403T>C p.M468T missense 0.00000824●●●●●●
161. 10260920 c.890C>T p.A297V missense 0.00000824●●●●●●
162. 10263252 c.1324A>G p.T442A missense 0.00000824●●●●●●
163. 10258413 c.721A>C p.K241Q missense 0.00000824●●●●●●
164. 10262738 c.1317+8A>G splice site 0.00000824●●●●●●
165. 10262702 c.1289C>G p.A430G missense 0.00000824●●●●●●
166. 10258492 c.724-6C>T splice site 0.00000824●●●●●●
167. 10264773 c.1504A>G p.K502E missense 0.00000824●●●●●●
168. 10263295 c.1367A>G p.E456G missense 0.00000824●●●●●●
169. 10254838 c.219T>A p.D73E missense 0.00000824●●●●●●
170. 10264870 c.1601G>A p.R534H missense 0.00000824●●●●●●
171. 10254293 c.142A>C p.M48L missense 0.00000824●●●●●●
172. 10261769 c.1091T>C p.F364S missense 0.00000824●●●●●●
173. 10260989 c.959C>T p.P320L missense 0.00000824●●●●●●
174. 10258392 c.700T>A p.F234I missense 0.00000824●●●●●●
175. 10263340 c.1412T>C p.I471T missense 0.00000824●●●●●●
176. 10258509 c.735T>G p.D245E missense 0.00000824●●●●●●
177. 10261801 c.1123G>A p.E375K missense 0.00000824●●●●●●
178. 10254788 c.169C>A p.L57I missense 0.00000824●●●●●●
179. 10262710 c.1297G>A p.V433I missense 0.00000824●●●●●●
180. 10261029 c.993+6A>T splice site 0.00000824●●●●●●
181. 10262596 c.1183A>G p.I395V missense 0.00000824●●●●●●
182. 10264810 c.1541A>T p.K514M missense 0.00000824●●●●●●
183. 10262662 c.1249C>T p.R417C 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.