CCT5 missense variants in ExAC

CCT5 gene summary
CCT5 variants in

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