CCT8 variants in ExAC

CCT8 gene summary
CCT8 variants in

The table below lists the CCT8 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. 30434882 c.942-5dupT splice site 0.00306357●●●●●●
4. 30439107 c.563-9_563-6delTCTT splice site 0.00278542●●●●●●
5. 30442666 c.61-8_61-7insT splice site 0.00250414●●●●●●
6. 30433636 c.1387G>T p.V463L missense 0.00245611●●●●●●
7. 30433892 c.1213-4dupA splice site 0.00141038●●●●●●
8. 30435835 c.779A>G p.K260R missense 0.00139737●●●●●●
9. 30432987 c.1450-6dupT splice site 0.00056967●●●●●●
10. 30434694 c.1051T>C p.Y351H missense 0.00047792●●●●●●
11. 30433810 c.1284+7C>T splice site 0.00045306●●●●●●
12. 30434883 c.942-6T>C splice site 0.00020352●●●●●●
13. 30439332 c.442T>C p.C148R missense 0.00019180●●●●●●
14. 30437306 c.745A>G p.M249V missense 0.00018960●●●●●●
15. 30441775 c.200A>C p.N67T missense 0.00016547●●●●●●
16. 30434468 c.1193C>G p.T398S missense 0.00011535●●●●●●
17. 30434442 c.1212+7A>T splice site 0.00009071●●●●●●
18. 30442665 c.61-7_61-6delTT splice site 0.00008979●●●●●●
19. 30439310 c.464G>A p.R155Q missense 0.00007465●●●●●●
20. 30432976 c.1455_1457delAGT p.Glu485_Val486delinsAsp inframe 0.00007420●●●●●●
21. 30434481 c.1180G>A p.D394N missense 0.00007414●●●●●●
22. 30434538 c.1123A>G p.I375V missense 0.00006591●●●●●●
23. 30439304 c.470T>C p.I157T missense 0.00005802●●●●●●
24. 30439370 c.404C>G p.A135G missense 0.00005214●●●●●●
25. 30441829 c.152-6T>G splice site 0.00005009●●●●●●
26. 30433641 c.1382A>G p.N461S missense 0.00004945●●●●●●
27. 30433632 c.1391T>C p.I464T missense 0.00004945●●●●●●
28. 30434534 c.1127T>G p.V376G missense 0.00004943●●●●●●
29. 30433834 c.1267A>C p.I423L missense 0.00004942●●●●●●
30. 30440030 c.232-4C>T splice site 0.00004523●●●●●●
31. 30442622 c.97A>G p.I33V missense 0.00004312●●●●●●
32. 30428825 c.1618A>G p.K540E missense 0.00004254●●●●●●
33. 30428842 c.1601A>G p.K534R missense 0.00004235●●●●●●
34. 30435802 c.812G>A p.G271E missense 0.00004150●●●●●●
35. 30433591 c.1432G>A p.V478I missense 0.00004124●●●●●●
36. 30442665 c.61-7delT splice site 0.00003991●●●●●●
37. 30439952 c.306C>G p.N102K missense 0.00003604●●●●●●
38. 30439367 c.407G>A p.C136Y missense 0.00003468●●●●●●
39. 30442612 c.107G>T p.C36F missense 0.00003431●●●●●●
40. 30439229 c.545T>C p.L182P missense 0.00003316●●●●●●
41. 30437282 c.762+7A>G splice site 0.00003308●●●●●●
42. 30432965 c.1466T>C p.V489A missense 0.00003297●●●●●●
43. 30432873 c.1558A>G p.R520G missense 0.00003297●●●●●●
44. 30439893 c.365G>A p.G122D missense 0.00002711●●●●●●
45. 30439968 c.290T>C p.V97A missense 0.00002707●●●●●●
46. 30428824 c.1619A>C p.K540T missense 0.00002553●●●●●●
47. 30439213 c.561C>T p.C187C splice site 0.00002491●●●●●●
48. 30441810 c.165G>A p.M55I missense 0.00002488●●●●●●
49. 30439080 c.581C>T p.S194F missense 0.00002487●●●●●●
50. 30435677 c.937G>C p.V313L missense 0.00002484●●●●●●
51. 30439281 c.493C>T p.R165C missense 0.00002482●●●●●●
52. 30433882 c.1219C>T p.R407C missense 0.00002473●●●●●●
53. 30445893 c.19A>G p.K7E missense 0.00002473●●●●●●
54. 30433674 c.1349G>A p.R450H missense 0.00002472●●●●●●
55. 30437369 c.682G>A p.E228K missense 0.00002471●●●●●●
56. 30439992 c.266C>G p.A89G missense 0.00001807●●●●●●
57. 30439996 c.262A>C p.M88L missense 0.00001807●●●●●●
58. 30439956 c.302C>T p.T101I missense 0.00001802●●●●●●
59. 30442630 c.89A>G p.Y30C missense 0.00001740●●●●●●
60. 30442589 c.130C>T p.R44C missense 0.00001717●●●●●●
61. 30428834 c.1609A>C p.S537R missense 0.00001695●●●●●●
62. 30428840 c.1603C>T p.P535S missense 0.00001694●●●●●●
63. 30439033 c.624+4A>G splice site 0.00001669●●●●●●
64. 30435845 c.769G>C p.V257L missense 0.00001665●●●●●●
65. 30439319 c.455A>T p.K152I missense 0.00001662●●●●●●
66. 30439096 c.565T>C p.S189P missense 0.00001658●●●●●●
67. 30439093 c.568A>G p.I190V missense 0.00001658●●●●●●
68. 30434804 c.1008+7A>G splice site 0.00001658●●●●●●
69. 30439231 c.543G>T p.K181N missense 0.00001658●●●●●●
70. 30439097 c.564A>G p.V188V splice site 0.00001658●●●●●●
71. 30435771 c.843A>C p.K281N missense 0.00001655●●●●●●
72. 30441779 c.196A>G p.T66A missense 0.00001655●●●●●●
73. 30435688 c.926A>G p.N309S missense 0.00001654●●●●●●
74. 30439275 c.499T>C p.S167P missense 0.00001654●●●●●●
75. 30435743 c.871G>A p.V291I missense 0.00001652●●●●●●
76. 30435722 c.892G>A p.A298T missense 0.00001652●●●●●●
77. 30435716 c.898A>G p.M300V missense 0.00001652●●●●●●
78. 30432989 c.1450-8_1450-6dupTTT splice site 0.00001651●●●●●●
79. 30445892 c.20A>G p.K7R missense 0.00001649●●●●●●
80. 30445877 c.35C>T p.A12V missense 0.00001649●●●●●●
81. 30434570 c.1097-6dupT splice site 0.00001649●●●●●●
82. 30445890 c.22G>C p.A8P missense 0.00001649●●●●●●
83. 30445902 c.10C>A p.H4N missense 0.00001649●●●●●●
84. 30445873 c.39G>C p.Q13H missense 0.00001649●●●●●●
85. 30434693 c.1052A>G p.Y351C missense 0.00001648●●●●●●
86. 30433735 c.1288T>A p.C430S missense 0.00001648●●●●●●
87. 30433698 c.1325C>G p.A442G missense 0.00001648●●●●●●
88. 30432960 c.1471G>A p.D491N missense 0.00001648●●●●●●
89. 30432963 c.1468A>C p.K490Q missense 0.00001648●●●●●●
90. 30432900 c.1531G>A p.A511T missense 0.00001648●●●●●●
91. 30434537 c.1124T>C p.I375T missense 0.00001648●●●●●●
92. 30433848 c.1253A>C p.E418A missense 0.00001647●●●●●●
93. 30439399 c.382-7G>A splice site 0.00000958●●●●●●
94. 30439871 c.381+6T>G splice site 0.00000912●●●●●●
95. 30439875 c.381+2C>G essential splice site 0.00000909●●●●●●
96. 30440031 c.232-5A>G splice site 0.00000905●●●●●●
97. 30440026 c.232G>A p.V78I missense 0.00000904●●●●●●
98. 30440000 c.258T>G p.I86M missense 0.00000904●●●●●●
99. 30440029 c.232-3T>C splice site 0.00000904●●●●●●
100. 30440008 c.250A>G p.K84E missense 0.00000904●●●●●●
101. 30440029 c.232-3T>G splice site 0.00000904●●●●●●
102. 30440026 c.232G>C p.V78L missense 0.00000904●●●●●●
103. 30439981 c.277C>G p.Q93E missense 0.00000903●●●●●●
104. 30439912 c.346G>A p.E116K missense 0.00000900●●●●●●
105. 30439938 c.320T>A p.F107Y missense 0.00000900●●●●●●
106. 30442642 c.77A>G p.E26G missense 0.00000894●●●●●●
107. 30439377 c.397G>A p.E133K missense 0.00000887●●●●●●
108. 30442636 c.83C>T p.A28V missense 0.00000880●●●●●●
109. 30442627 c.92G>A p.R31K missense 0.00000868●●●●●●
110. 30442578 c.141T>A p.Y47X nonsense 0.00000868●●●●●●
111. 30442579 c.140A>G p.Y47C missense 0.00000867●●●●●●
112. 30428882 c.1570-9_1570-7delTTT splice site 0.00000862●●●●●●
113. 30428810 c.1633G>A p.D545N missense 0.00000862●●●●●●
114. 30442621 c.98T>C p.I33T missense 0.00000862●●●●●●
115. 30442601 c.118G>C p.A40P missense 0.00000856●●●●●●
116. 30428821 c.1622A>C p.D541A missense 0.00000852●●●●●●
117. 30428857 c.1586C>T p.P529L missense 0.00000850●●●●●●
118. 30434854 c.965G>A p.R322Q missense 0.00000844●●●●●●
119. 30439341 c.433A>C p.N145H missense 0.00000837●●●●●●
120. 30441831 c.152-8C>T splice site 0.00000836●●●●●●
121. 30441737 c.231+7T>G splice site 0.00000835●●●●●●
122. 30435855 c.763-4C>T splice site 0.00000833●●●●●●
123. 30439105 c.563-7T>C splice site 0.00000833●●●●●●
124. 30439328 c.446_448delGTT p.Cys149del inframe 0.00000832●●●●●●
125. 30439317 c.457A>C p.N153H missense 0.00000830●●●●●●
126. 30439212 c.562G>A p.V188I missense 0.00000830●●●●●●
127. 30439317 c.457A>T p.N153Y missense 0.00000830●●●●●●
128. 30434819 c.1000C>G p.P334A missense 0.00000830●●●●●●
129. 30441760 c.215_219delTTTTA p.Ile72LysfsTer43 frameshift 0.00000829●●●●●●
130. 30439101 c.563-3C>T splice site 0.00000829●●●●●●
131. 30439223 c.551C>A p.A184D missense 0.00000829●●●●●●
132. 30439068 c.593A>G p.N198S missense 0.00000829●●●●●●
133. 30439075 c.586C>T p.H196Y missense 0.00000829●●●●●●
134. 30435677 c.937G>A p.V313M missense 0.00000828●●●●●●
135. 30441764 c.211A>G p.T71A missense 0.00000828●●●●●●
136. 30439300 c.474T>A p.D158E missense 0.00000828●●●●●●
137. 30441802 c.173A>G p.N58S missense 0.00000828●●●●●●
138. 30435681 c.933G>A p.M311I missense 0.00000828●●●●●●
139. 30441764 c.211A>T p.T71S missense 0.00000828●●●●●●
140. 30432987 c.1450-6T>C splice site 0.00000827●●●●●●
141. 30439280 c.494G>A p.R165H missense 0.00000827●●●●●●
142. 30439256 c.518A>G p.Y173C missense 0.00000827●●●●●●
143. 30435685 c.929T>C p.I310T missense 0.00000827●●●●●●
144. 30433892 c.1213-4A>G splice site 0.00000827●●●●●●
145. 30439268 c.506T>C p.M169T missense 0.00000827●●●●●●
146. 30435757 c.857C>T p.T286I missense 0.00000827●●●●●●
147. 30441769 c.206C>T p.A69V missense 0.00000827●●●●●●
148. 30439272 c.502A>G p.I168V missense 0.00000827●●●●●●
149. 30435745 c.869T>C p.V290A missense 0.00000826●●●●●●
150. 30437286 c.762+3A>G splice site 0.00000826●●●●●●
151. 30435710 c.904C>G p.L302V missense 0.00000826●●●●●●
152. 30437432 c.625-6C>T splice site 0.00000826●●●●●●
153. 30433580 c.1443T>G p.D481E missense 0.00000825●●●●●●
154. 30434733 c.1012C>T p.P338S missense 0.00000825●●●●●●
155. 30434735 c.1010C>T p.T337I missense 0.00000825●●●●●●
156. 30433894 c.1213-6A>G splice site 0.00000825●●●●●●
157. 30432974 c.1457T>A p.V486D missense 0.00000825●●●●●●
158. 30434747 c.1009-11C>T splice site 0.00000825●●●●●●
159. 30433858 c.1243A>G p.T415A missense 0.00000824●●●●●●
160. 30433732 c.1291C>G p.P431A missense 0.00000824●●●●●●
161. 30433671 c.1352C>T p.A451V missense 0.00000824●●●●●●
162. 30434681 c.1064T>C p.V355A missense 0.00000824●●●●●●
163. 30433692 c.1331C>T p.A444V missense 0.00000824●●●●●●
164. 30445865 c.47A>G p.K16R missense 0.00000824●●●●●●
165. 30437332 c.719C>T p.A240V missense 0.00000824●●●●●●
166. 30433624 c.1399C>A p.L467I missense 0.00000824●●●●●●
167. 30433723 c.1300G>C p.E434Q missense 0.00000824●●●●●●
168. 30445899 c.13G>A p.V5I missense 0.00000824●●●●●●
169. 30437344 c.707A>T p.D236V missense 0.00000824●●●●●●
170. 30432953 c.1478T>C p.L493P missense 0.00000824●●●●●●
171. 30433858 c.1243A>T p.T415S missense 0.00000824●●●●●●
172. 30434570 c.1097-6delT splice site 0.00000824●●●●●●
173. 30433651 c.1372G>A p.V458I missense 0.00000824●●●●●●
174. 30437372 c.679A>G p.T227A missense 0.00000824●●●●●●
175. 30437310 c.741T>A p.D247E missense 0.00000824●●●●●●
176. 30432969 c.1462G>A p.A488T missense 0.00000824●●●●●●
177. 30432896 c.1535C>T p.T512I missense 0.00000824●●●●●●
178. 30434453 c.1208C>T p.T403I missense 0.00000824●●●●●●
179. 30434489 c.1172C>T p.A391V missense 0.00000824●●●●●●
180. 30432903 c.1528C>T p.L510F missense 0.00000824●●●●●●
181. 30445878 c.34G>A p.A12T missense 0.00000824●●●●●●
182. 30437354 c.697T>A p.S233T missense 0.00000824●●●●●●
183. 30437336 c.715A>T p.I239L missense 0.00000824●●●●●●
184. 30433626 c.1397A>T p.K466I missense 0.00000824●●●●●●
185. 30433873 c.1228C>G p.P410A missense 0.00000824●●●●●●
186. 30434550 c.1111G>A p.A371T missense 0.00000824●●●●●●
187. 30437315 c.736T>C p.F246L missense 0.00000824●●●●●●
188. 30434650 c.1095T>C splice site 0.00000824●●●●●●
189. 30433867 c.1234G>A p.G412S missense 0.00000824●●●●●●
190. 30445902 c.10C>T p.H4Y missense 0.00000824●●●●●●
191. 30433683 c.1340C>T p.A447V missense 0.00000824●●●●●●
192. 30445872 c.40A>C p.M14L missense 0.00000824●●●●●●
193. 30437317 c.734C>T p.P245L missense 0.00000824●●●●●●
194. 30433612 c.1411C>T p.H471Y missense 0.00000824●●●●●●
195. 30432897 c.1534A>G p.T512A missense 0.00000824●●●●●●
196. 30432867 c.1564G>T p.D522Y missense 0.00000824●●●●●●
197. 30434499 c.1162A>G p.I388V missense 0.00000824●●●●●●
198. 30434462 c.1199A>G p.K400R missense 0.00000824●●●●●●
199. 30433714 c.1309G>A p.A437T missense 0.00000824●●●●●●
200. 30437357 c.694A>G p.T232A missense 0.00000824●●●●●●
201. 30433665 c.1358C>T p.A453V missense 0.00000824●●●●●●
202. 30437339 c.712A>G p.K238E missense 0.00000824●●●●●●
203. 30434667 c.1078G>T p.V360L missense 0.00000824●●●●●●
204. 30434694 c.1051T>G p.Y351D missense 0.00000824●●●●●●
205. 30433876 c.1225G>T p.V409L missense 0.00000824●●●●●●
206. 30433690 c.1333T>C p.F445L missense 0.00000824●●●●●●
207. 30437330 c.721G>A p.V241M missense 0.00000824●●●●●●
208. 30433621 c.1402T>C p.Y468H missense 0.00000824●●●●●●
209. 30432905 c.1526A>G p.K509R missense 0.00000824●●●●●●
210. 30432870 c.1561G>C p.V521L missense 0.00000824●●●●●●
211. 30434511 c.1150C>G p.L384V 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.