CCT2 variants in ExAC

CCT2 gene summary
CCT2 variants in

The table below lists the CCT2 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. 69986749 c.751-7G>T splice site 0.00110513●●●●●●
2. 69991508 c.1193C>T p.A398V missense 0.00023898●●●●●●
3. 69983285 c.467G>A p.R156H missense 0.00020793●●●●●●
4. 69983450 c.632A>G p.D211G missense 0.00014077●●●●●●
5. 69981334 c.194A>G p.N65S missense 0.00011559●●●●●●
6. 69986814 c.809C>T p.A270V missense 0.00009902●●●●●●
7. 69993671 c.1464G>A p.M488I missense 0.00007421●●●●●●
8. 69991799 c.1283C>T p.T428I missense 0.00006755●●●●●●
9. 69986846 c.841C>T p.R281C missense 0.00006612●●●●●●
10. 69987375 c.964C>T p.R322C missense 0.00006596●●●●●●
11. 69991793 c.1277A>G p.N426S missense 0.00005908●●●●●●
12. 69993709 c.1502G>A p.R501Q missense 0.00005773●●●●●●
13. 69993679 c.1472T>C p.L491P missense 0.00005772●●●●●●
14. 69981968 c.372G>C p.Q124H missense 0.00005772●●●●●●
15. 69981718 c.265A>G p.R89G missense 0.00005772●●●●●●
16. 69993684 c.1477A>G p.I493V missense 0.00005771●●●●●●
17. 69995066 c.1578-9C>T splice site 0.00005097●●●●●●
18. 69995070 c.1578-5C>T splice site 0.00005070●●●●●●
19. 69983308 c.490G>A p.G164S missense 0.00004952●●●●●●
20. 69991765 c.1249A>T p.M417L missense 0.00004264●●●●●●
21. 69993670 c.1463T>C p.M488T missense 0.00004123●●●●●●
22. 69991516 c.1201G>T p.V401L missense 0.00004121●●●●●●
23. 69991520 c.1205A>T p.K402M missense 0.00004121●●●●●●
24. 69982015 c.419C>T p.A140V missense 0.00004120●●●●●●
25. 69991859 c.1335+8A>C splice site 0.00003781●●●●●●
26. 69979311 c.3+7C>T splice site 0.00003680●●●●●●
27. 69991822 c.1306A>G p.M436V missense 0.00003445●●●●●●
28. 69983269 c.451G>A p.D151N missense 0.00003405●●●●●●
29. 69992139 c.1373G>A p.S458N missense 0.00003317●●●●●●
30. 69991442 c.1127G>A p.R376H missense 0.00003302●●●●●●
31. 69981713 c.260T>C p.M87T missense 0.00003301●●●●●●
32. 69983332 c.514C>G p.L172V missense 0.00003297●●●●●●
33. 69983342 c.524A>G p.H175R missense 0.00003296●●●●●●
34. 69990993 c.1040A>G p.K347R missense 0.00003295●●●●●●
35. 69993788 c.1577+4C>T splice site 0.00002544●●●●●●
36. 69992108 c.1342A>G p.T448A missense 0.00002539●●●●●●
37. 69991798 c.1282A>G p.T428A missense 0.00002533●●●●●●
38. 69985950 c.750+11C>G splice site 0.00002528●●●●●●
39. 69983284 c.466C>T p.R156C missense 0.00002498●●●●●●
40. 69987290 c.879G>A splice site 0.00002490●●●●●●
41. 69993762 c.1555A>G p.N519D missense 0.00002489●●●●●●
42. 69993635 c.1436-8C>T splice site 0.00002487●●●●●●
43. 69992145 c.1379A>T p.D460V missense 0.00002486●●●●●●
44. 69986858 c.853C>T p.H285Y missense 0.00002484●●●●●●
45. 69981310 c.170G>T p.R57L missense 0.00002482●●●●●●
46. 69995098 c.1601C>G p.P534R missense 0.00002481●●●●●●
47. 69990932 c.983-4A>G splice site 0.00002476●●●●●●
48. 69980540 c.86T>C p.F29S missense 0.00002472●●●●●●
49. 69981979 c.383C>T p.A128V missense 0.00002472●●●●●●
50. 69987287 c.879-3C>T splice site 0.00001664●●●●●●
51. 69992138 c.1372A>G p.S458G missense 0.00001659●●●●●●
52. 69993763 c.1556A>T p.N519I missense 0.00001659●●●●●●
53. 69985886 c.697G>C p.E233Q missense 0.00001655●●●●●●
54. 69985907 c.718G>A p.A240T missense 0.00001655●●●●●●
55. 69983296 c.478A>G p.M160V missense 0.00001654●●●●●●
56. 69981319 c.179C>T p.S60F missense 0.00001653●●●●●●
57. 69986769 c.764G>A p.R255Q missense 0.00001653●●●●●●
58. 69981324 c.184A>G p.M62V missense 0.00001652●●●●●●
59. 69981351 c.211C>G p.L71V missense 0.00001652●●●●●●
60. 69983302 c.484A>G p.I162V missense 0.00001652●●●●●●
61. 69981322 c.182T>C p.L61P missense 0.00001652●●●●●●
62. 69981712 c.259A>G p.M87V missense 0.00001651●●●●●●
63. 69983309 c.491G>C p.G164A missense 0.00001650●●●●●●
64. 69982033 c.437T>C p.V146A missense 0.00001650●●●●●●
65. 69981763 c.310G>A p.V104I missense 0.00001649●●●●●●
66. 69982027 c.431C>T p.S144F missense 0.00001649●●●●●●
67. 69981757 c.304G>A p.V102I missense 0.00001649●●●●●●
68. 69983401 c.583A>G p.N195D missense 0.00001648●●●●●●
69. 69980549 c.95C>T p.A32V missense 0.00001648●●●●●●
70. 69981731 c.278A>G p.D93G missense 0.00001648●●●●●●
71. 69981993 c.397G>A p.A133T missense 0.00001648●●●●●●
72. 69991462 c.1147T>G p.L383V missense 0.00001648●●●●●●
73. 69991857 c.1335+6T>C splice site 0.00000939●●●●●●
74. 69991851 c.1335G>A p.M445I missense 0.00000913●●●●●●
75. 69991837 c.1321A>G p.K441E missense 0.00000878●●●●●●
76. 69991751 c.1235G>C p.C412S missense 0.00000872●●●●●●
77. 69991831 c.1315T>C p.Y439H missense 0.00000868●●●●●●
78. 69991819 c.1303G>C p.A435P missense 0.00000856●●●●●●
79. 69983271 c.453T>A p.D151E missense 0.00000846●●●●●●
80. 69991802 c.1286C>G p.P429R missense 0.00000845●●●●●●
81. 69991789 c.1273G>T p.A425S missense 0.00000844●●●●●●
82. 69981277 c.145-8C>T splice site 0.00000843●●●●●●
83. 69992114 c.1348A>G p.I450V missense 0.00000841●●●●●●
84. 69986890 c.878+7G>A splice site 0.00000840●●●●●●
85. 69995077 c.1580A>G p.K527R missense 0.00000839●●●●●●
86. 69981934 c.338C>G p.A113G missense 0.00000839●●●●●●
87. 69985832 c.650-7A>G splice site 0.00000837●●●●●●
88. 69992118 c.1352C>T p.A451V missense 0.00000837●●●●●●
89. 69993775 c.1568C>T p.A523V missense 0.00000836●●●●●●
90. 69981387 c.247G>A p.V83I missense 0.00000835●●●●●●
91. 69983474 c.649+7A>G splice site 0.00000832●●●●●●
92. 69993767 c.1560C>G p.I520M missense 0.00000831●●●●●●
93. 69992192 c.1426G>A p.A476T missense 0.00000831●●●●●●
94. 69992193 c.1427C>T p.A476V missense 0.00000831●●●●●●
95. 69992191 c.1425_1426insG p.Ala476GlyfsTer34 frameshift 0.00000830●●●●●●
96. 69991410 c.1103-8A>C splice site 0.00000830●●●●●●
97. 69992183 c.1417A>G p.N473D missense 0.00000829●●●●●●
98. 69993635 c.1436-8C>G splice site 0.00000829●●●●●●
99. 69983456 c.638A>G p.Y213C missense 0.00000829●●●●●●
100. 69981300 c.160_162delAGC p.Ser54del inframe 0.00000829●●●●●●
101. 69986756 c.751A>T p.I251L missense 0.00000829●●●●●●
102. 69981945 c.349A>C p.I117L missense 0.00000829●●●●●●
103. 69986856 c.851A>G p.K284R missense 0.00000828●●●●●●
104. 69992163 c.1397G>A p.R466K missense 0.00000828●●●●●●
105. 69985916 c.727G>A p.G243S missense 0.00000828●●●●●●
106. 69981373 c.233A>G p.N78S missense 0.00000828●●●●●●
107. 69993754 c.1547G>A p.R516H missense 0.00000828●●●●●●
108. 69985871 c.682_685delCAAC p.P229Nfs*20 frameshift 0.00000828●●●●●●
109. 69987401 c.982+8A>G splice site 0.00000828●●●●●●
110. 69986759 c.754T>C p.F252L missense 0.00000828●●●●●●
111. 69981304 c.164G>A p.S55N missense 0.00000828●●●●●●
112. 69983440 c.622A>G p.S208G missense 0.00000827●●●●●●
113. 69980593 c.139G>A p.G47S missense 0.00000827●●●●●●
114. 69983297 c.479T>C p.M160T missense 0.00000827●●●●●●
115. 69981310 c.170G>A p.R57Q missense 0.00000827●●●●●●
116. 69983442 c.624T>A p.S208R missense 0.00000827●●●●●●
117. 69995097 c.1600C>T p.P534S missense 0.00000827●●●●●●
118. 69980594 c.140G>C p.G47A missense 0.00000827●●●●●●
119. 69986849 c.844A>G p.I282V missense 0.00000827●●●●●●
120. 69983440 c.622A>C p.S208R missense 0.00000827●●●●●●
121. 69991426 c.1111T>G p.C371G missense 0.00000827●●●●●●
122. 69993738 c.1531G>A p.A511T missense 0.00000826●●●●●●
123. 69986771 c.766G>A p.V256I missense 0.00000826●●●●●●
124. 69981355 c.215A>G p.K72R missense 0.00000826●●●●●●
125. 69986775 c.770G>A p.R257K missense 0.00000826●●●●●●
126. 69993646 c.1439T>C p.M480T missense 0.00000826●●●●●●
127. 69986835 c.830A>G p.E277G missense 0.00000826●●●●●●
128. 69981327 c.187G>T p.V63L missense 0.00000826●●●●●●
129. 69991442 c.1127G>T p.R376L missense 0.00000826●●●●●●
130. 69986778 c.773T>C p.V258A missense 0.00000826●●●●●●
131. 69983430 c.612G>C p.K204N missense 0.00000826●●●●●●
132. 69993735 c.1528G>A p.A510T missense 0.00000826●●●●●●
133. 69993651 c.1444G>A p.E482K missense 0.00000826●●●●●●
134. 69991538 c.1223A>G p.Y408C missense 0.00000825●●●●●●
135. 69986814 c.809C>G p.A270G missense 0.00000825●●●●●●
136. 69986793 c.788A>T p.K263M missense 0.00000825●●●●●●
137. 69993713 c.1506G>C p.Q502H missense 0.00000825●●●●●●
138. 69993667 c.1460A>G p.D487G missense 0.00000825●●●●●●
139. 69983413 c.595A>G p.I199V missense 0.00000825●●●●●●
140. 69982030 c.434C>T p.A145V missense 0.00000825●●●●●●
141. 69991061 c.1102+6_1102+9delTGAT splice site 0.00000825●●●●●●
142. 69993726 c.1519G>A p.A507T missense 0.00000825●●●●●●
143. 69986804 c.799A>G p.I267V missense 0.00000825●●●●●●
144. 69983314 c.496A>G p.T166A missense 0.00000825●●●●●●
145. 69991537 c.1222T>C p.Y408H missense 0.00000825●●●●●●
146. 69987375 c.964C>G p.R322G missense 0.00000825●●●●●●
147. 69986790 c.785C>T p.A262V missense 0.00000825●●●●●●
148. 69986806 c.801A>G p.I267M missense 0.00000825●●●●●●
149. 69990930 c.983-6T>A splice site 0.00000825●●●●●●
150. 69980554 c.100G>A p.A34T missense 0.00000824●●●●●●
151. 69982029 c.433G>A p.A145T missense 0.00000824●●●●●●
152. 69980098 c.52_54delGAA p.Glu18del inframe 0.00000824●●●●●●
153. 69990995 c.1042C>T p.L348F missense 0.00000824●●●●●●
154. 69980060 c.14C>G p.S5C missense 0.00000824●●●●●●
155. 69982005 c.409G>T p.A137S missense 0.00000824●●●●●●
156. 69993697 c.1490T>G p.F497C missense 0.00000824●●●●●●
157. 69993682 c.1475G>A p.G492D missense 0.00000824●●●●●●
158. 69990999 c.1046T>C p.I349T missense 0.00000824●●●●●●
159. 69981975 c.379A>G p.I127V missense 0.00000824●●●●●●
160. 69980084 c.38A>G p.K13R missense 0.00000824●●●●●●
161. 69983351 c.533A>G p.H178R missense 0.00000824●●●●●●
162. 69987345 c.934A>G p.I312V missense 0.00000824●●●●●●
163. 69990974 c.1021G>A p.V341M missense 0.00000824●●●●●●
164. 69993702 c.1495G>C p.V499L missense 0.00000824●●●●●●
165. 69993685 c.1478T>C p.I493T missense 0.00000824●●●●●●
166. 69990958 c.1005_1006insTG p.Asp336TrpfsTer7 frameshift 0.00000824●●●●●●
167. 69991001 c.1048G>A p.E350K missense 0.00000824●●●●●●
168. 69982024 c.428G>A p.S143N missense 0.00000824●●●●●●
169. 69980551 c.97A>G p.I33V missense 0.00000824●●●●●●
170. 69980086 c.40G>A p.A14T missense 0.00000824●●●●●●
171. 69983377 c.559G>C p.V187L missense 0.00000824●●●●●●
172. 69993693 c.1486A>G p.S496G missense 0.00000824●●●●●●
173. 69991473 c.1158_1159delAG p.Glu387LysfsTer5 frameshift 0.00000824●●●●●●
174. 69982002 c.406G>C p.A136P missense 0.00000824●●●●●●
175. 69980525 c.79-8T>C splice site 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.