CCT2 missense variants in ExAC

CCT2 gene summary
CCT2 variants in

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