CCT8 missense variants in ExAC

CCT8 gene summary
CCT8 variants in

The table below lists the CCT8 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. 30439335 c.439G>A p.V147I missense 0.00911428●●●●●●
2. 30433876 c.1225G>A p.V409I missense 0.00695429●●●●●●
3. 30433636 c.1387G>T p.V463L missense 0.00245611●●●●●●
4. 30435835 c.779A>G p.K260R missense 0.00139737●●●●●●
5. 30434694 c.1051T>C p.Y351H missense 0.00047792●●●●●●
6. 30439332 c.442T>C p.C148R missense 0.00019180●●●●●●
7. 30437306 c.745A>G p.M249V missense 0.00018960●●●●●●
8. 30441775 c.200A>C p.N67T missense 0.00016547●●●●●●
9. 30434468 c.1193C>G p.T398S missense 0.00011535●●●●●●
10. 30439310 c.464G>A p.R155Q missense 0.00007465●●●●●●
11. 30434481 c.1180G>A p.D394N missense 0.00007414●●●●●●
12. 30434538 c.1123A>G p.I375V missense 0.00006591●●●●●●
13. 30439304 c.470T>C p.I157T missense 0.00005802●●●●●●
14. 30439370 c.404C>G p.A135G missense 0.00005214●●●●●●
15. 30433641 c.1382A>G p.N461S missense 0.00004945●●●●●●
16. 30433632 c.1391T>C p.I464T missense 0.00004945●●●●●●
17. 30434534 c.1127T>G p.V376G missense 0.00004943●●●●●●
18. 30433834 c.1267A>C p.I423L missense 0.00004942●●●●●●
19. 30442622 c.97A>G p.I33V missense 0.00004312●●●●●●
20. 30428825 c.1618A>G p.K540E missense 0.00004254●●●●●●
21. 30428842 c.1601A>G p.K534R missense 0.00004235●●●●●●
22. 30435802 c.812G>A p.G271E missense 0.00004150●●●●●●
23. 30433591 c.1432G>A p.V478I missense 0.00004124●●●●●●
24. 30439952 c.306C>G p.N102K missense 0.00003604●●●●●●
25. 30439367 c.407G>A p.C136Y missense 0.00003468●●●●●●
26. 30442612 c.107G>T p.C36F missense 0.00003431●●●●●●
27. 30439229 c.545T>C p.L182P missense 0.00003316●●●●●●
28. 30432965 c.1466T>C p.V489A missense 0.00003297●●●●●●
29. 30432873 c.1558A>G p.R520G missense 0.00003297●●●●●●
30. 30439893 c.365G>A p.G122D missense 0.00002711●●●●●●
31. 30439968 c.290T>C p.V97A missense 0.00002707●●●●●●
32. 30428824 c.1619A>C p.K540T missense 0.00002553●●●●●●
33. 30441810 c.165G>A p.M55I missense 0.00002488●●●●●●
34. 30439080 c.581C>T p.S194F missense 0.00002487●●●●●●
35. 30435677 c.937G>C p.V313L missense 0.00002484●●●●●●
36. 30439281 c.493C>T p.R165C missense 0.00002482●●●●●●
37. 30445893 c.19A>G p.K7E missense 0.00002473●●●●●●
38. 30433882 c.1219C>T p.R407C missense 0.00002473●●●●●●
39. 30433674 c.1349G>A p.R450H missense 0.00002472●●●●●●
40. 30437369 c.682G>A p.E228K missense 0.00002471●●●●●●
41. 30439992 c.266C>G p.A89G missense 0.00001807●●●●●●
42. 30439996 c.262A>C p.M88L missense 0.00001807●●●●●●
43. 30439956 c.302C>T p.T101I missense 0.00001802●●●●●●
44. 30442630 c.89A>G p.Y30C missense 0.00001740●●●●●●
45. 30442589 c.130C>T p.R44C missense 0.00001717●●●●●●
46. 30428834 c.1609A>C p.S537R missense 0.00001695●●●●●●
47. 30428840 c.1603C>T p.P535S missense 0.00001694●●●●●●
48. 30435845 c.769G>C p.V257L missense 0.00001665●●●●●●
49. 30439319 c.455A>T p.K152I missense 0.00001662●●●●●●
50. 30439093 c.568A>G p.I190V missense 0.00001658●●●●●●
51. 30439231 c.543G>T p.K181N missense 0.00001658●●●●●●
52. 30439096 c.565T>C p.S189P missense 0.00001658●●●●●●
53. 30441779 c.196A>G p.T66A missense 0.00001655●●●●●●
54. 30435771 c.843A>C p.K281N missense 0.00001655●●●●●●
55. 30435688 c.926A>G p.N309S missense 0.00001654●●●●●●
56. 30439275 c.499T>C p.S167P missense 0.00001654●●●●●●
57. 30435716 c.898A>G p.M300V missense 0.00001652●●●●●●
58. 30435722 c.892G>A p.A298T missense 0.00001652●●●●●●
59. 30435743 c.871G>A p.V291I missense 0.00001652●●●●●●
60. 30445890 c.22G>C p.A8P missense 0.00001649●●●●●●
61. 30445873 c.39G>C p.Q13H missense 0.00001649●●●●●●
62. 30445902 c.10C>A p.H4N missense 0.00001649●●●●●●
63. 30445892 c.20A>G p.K7R missense 0.00001649●●●●●●
64. 30445877 c.35C>T p.A12V missense 0.00001649●●●●●●
65. 30434693 c.1052A>G p.Y351C missense 0.00001648●●●●●●
66. 30433735 c.1288T>A p.C430S missense 0.00001648●●●●●●
67. 30432960 c.1471G>A p.D491N missense 0.00001648●●●●●●
68. 30433698 c.1325C>G p.A442G missense 0.00001648●●●●●●
69. 30432963 c.1468A>C p.K490Q missense 0.00001648●●●●●●
70. 30432900 c.1531G>A p.A511T missense 0.00001648●●●●●●
71. 30434537 c.1124T>C p.I375T missense 0.00001648●●●●●●
72. 30433848 c.1253A>C p.E418A missense 0.00001647●●●●●●
73. 30440008 c.250A>G p.K84E missense 0.00000904●●●●●●
74. 30440026 c.232G>C p.V78L missense 0.00000904●●●●●●
75. 30440026 c.232G>A p.V78I missense 0.00000904●●●●●●
76. 30440000 c.258T>G p.I86M missense 0.00000904●●●●●●
77. 30439981 c.277C>G p.Q93E missense 0.00000903●●●●●●
78. 30439912 c.346G>A p.E116K missense 0.00000900●●●●●●
79. 30439938 c.320T>A p.F107Y missense 0.00000900●●●●●●
80. 30442642 c.77A>G p.E26G missense 0.00000894●●●●●●
81. 30439377 c.397G>A p.E133K missense 0.00000887●●●●●●
82. 30442636 c.83C>T p.A28V missense 0.00000880●●●●●●
83. 30442627 c.92G>A p.R31K missense 0.00000868●●●●●●
84. 30442579 c.140A>G p.Y47C missense 0.00000867●●●●●●
85. 30428810 c.1633G>A p.D545N missense 0.00000862●●●●●●
86. 30442621 c.98T>C p.I33T missense 0.00000862●●●●●●
87. 30442601 c.118G>C p.A40P missense 0.00000856●●●●●●
88. 30428821 c.1622A>C p.D541A missense 0.00000852●●●●●●
89. 30428857 c.1586C>T p.P529L missense 0.00000850●●●●●●
90. 30434854 c.965G>A p.R322Q missense 0.00000844●●●●●●
91. 30439341 c.433A>C p.N145H missense 0.00000837●●●●●●
92. 30439317 c.457A>C p.N153H missense 0.00000830●●●●●●
93. 30439212 c.562G>A p.V188I missense 0.00000830●●●●●●
94. 30439317 c.457A>T p.N153Y missense 0.00000830●●●●●●
95. 30434819 c.1000C>G p.P334A missense 0.00000830●●●●●●
96. 30439223 c.551C>A p.A184D missense 0.00000829●●●●●●
97. 30439068 c.593A>G p.N198S missense 0.00000829●●●●●●
98. 30439075 c.586C>T p.H196Y missense 0.00000829●●●●●●
99. 30435677 c.937G>A p.V313M missense 0.00000828●●●●●●
100. 30441802 c.173A>G p.N58S missense 0.00000828●●●●●●
101. 30441764 c.211A>T p.T71S missense 0.00000828●●●●●●
102. 30435681 c.933G>A p.M311I missense 0.00000828●●●●●●
103. 30441764 c.211A>G p.T71A missense 0.00000828●●●●●●
104. 30439300 c.474T>A p.D158E missense 0.00000828●●●●●●
105. 30439268 c.506T>C p.M169T missense 0.00000827●●●●●●
106. 30439272 c.502A>G p.I168V missense 0.00000827●●●●●●
107. 30441769 c.206C>T p.A69V missense 0.00000827●●●●●●
108. 30435685 c.929T>C p.I310T missense 0.00000827●●●●●●
109. 30435757 c.857C>T p.T286I missense 0.00000827●●●●●●
110. 30439256 c.518A>G p.Y173C missense 0.00000827●●●●●●
111. 30439280 c.494G>A p.R165H missense 0.00000827●●●●●●
112. 30435745 c.869T>C p.V290A missense 0.00000826●●●●●●
113. 30435710 c.904C>G p.L302V missense 0.00000826●●●●●●
114. 30432974 c.1457T>A p.V486D missense 0.00000825●●●●●●
115. 30434735 c.1010C>T p.T337I missense 0.00000825●●●●●●
116. 30434733 c.1012C>T p.P338S missense 0.00000825●●●●●●
117. 30433580 c.1443T>G p.D481E missense 0.00000825●●●●●●
118. 30433732 c.1291C>G p.P431A missense 0.00000824●●●●●●
119. 30432905 c.1526A>G p.K509R missense 0.00000824●●●●●●
120. 30445878 c.34G>A p.A12T missense 0.00000824●●●●●●
121. 30445872 c.40A>C p.M14L missense 0.00000824●●●●●●
122. 30437339 c.712A>G p.K238E missense 0.00000824●●●●●●
123. 30434489 c.1172C>T p.A391V missense 0.00000824●●●●●●
124. 30437372 c.679A>G p.T227A missense 0.00000824●●●●●●
125. 30433858 c.1243A>T p.T415S missense 0.00000824●●●●●●
126. 30432870 c.1561G>C p.V521L missense 0.00000824●●●●●●
127. 30432953 c.1478T>C p.L493P missense 0.00000824●●●●●●
128. 30433692 c.1331C>T p.A444V missense 0.00000824●●●●●●
129. 30445902 c.10C>T p.H4Y missense 0.00000824●●●●●●
130. 30433624 c.1399C>A p.L467I missense 0.00000824●●●●●●
131. 30434453 c.1208C>T p.T403I missense 0.00000824●●●●●●
132. 30437330 c.721G>A p.V241M missense 0.00000824●●●●●●
133. 30432969 c.1462G>A p.A488T missense 0.00000824●●●●●●
134. 30433723 c.1300G>C p.E434Q missense 0.00000824●●●●●●
135. 30433651 c.1372G>A p.V458I missense 0.00000824●●●●●●
136. 30434550 c.1111G>A p.A371T missense 0.00000824●●●●●●
137. 30437344 c.707A>T p.D236V missense 0.00000824●●●●●●
138. 30433867 c.1234G>A p.G412S missense 0.00000824●●●●●●
139. 30432896 c.1535C>T p.T512I missense 0.00000824●●●●●●
140. 30433626 c.1397A>T p.K466I missense 0.00000824●●●●●●
141. 30434694 c.1051T>G p.Y351D missense 0.00000824●●●●●●
142. 30445899 c.13G>A p.V5I missense 0.00000824●●●●●●
143. 30437332 c.719C>T p.A240V missense 0.00000824●●●●●●
144. 30434462 c.1199A>G p.K400R missense 0.00000824●●●●●●
145. 30437357 c.694A>G p.T232A missense 0.00000824●●●●●●
146. 30434499 c.1162A>G p.I388V missense 0.00000824●●●●●●
147. 30433665 c.1358C>T p.A453V missense 0.00000824●●●●●●
148. 30433873 c.1228C>G p.P410A missense 0.00000824●●●●●●
149. 30433683 c.1340C>T p.A447V missense 0.00000824●●●●●●
150. 30437354 c.697T>A p.S233T missense 0.00000824●●●●●●
151. 30433612 c.1411C>T p.H471Y missense 0.00000824●●●●●●
152. 30434667 c.1078G>T p.V360L missense 0.00000824●●●●●●
153. 30437310 c.741T>A p.D247E missense 0.00000824●●●●●●
154. 30433876 c.1225G>T p.V409L missense 0.00000824●●●●●●
155. 30432897 c.1534A>G p.T512A missense 0.00000824●●●●●●
156. 30433714 c.1309G>A p.A437T missense 0.00000824●●●●●●
157. 30434511 c.1150C>G p.L384V missense 0.00000824●●●●●●
158. 30445865 c.47A>G p.K16R missense 0.00000824●●●●●●
159. 30437336 c.715A>T p.I239L missense 0.00000824●●●●●●
160. 30437315 c.736T>C p.F246L missense 0.00000824●●●●●●
161. 30433858 c.1243A>G p.T415A missense 0.00000824●●●●●●
162. 30432867 c.1564G>T p.D522Y missense 0.00000824●●●●●●
163. 30433690 c.1333T>C p.F445L missense 0.00000824●●●●●●
164. 30433671 c.1352C>T p.A451V missense 0.00000824●●●●●●
165. 30434681 c.1064T>C p.V355A missense 0.00000824●●●●●●
166. 30433621 c.1402T>C p.Y468H missense 0.00000824●●●●●●
167. 30437317 c.734C>T p.P245L missense 0.00000824●●●●●●
168. 30432903 c.1528C>T p.L510F 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.