CCT4 missense variants in ExAC

CCT4 gene summary
CCT4 variants in

The table below lists the CCT4 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. 62100165 c.1097A>G p.N366S missense 0.00210877●●●●●●
2. 62099260 c.1448G>A p.R483Q missense 0.00070881●●●●●●
3. 62099687 c.1162A>G p.I388V missense 0.00060986●●●●●●
4. 62107466 c.334A>G p.I112V missense 0.00056837●●●●●●
5. 62104134 c.698T>C p.V233A missense 0.00044505●●●●●●
6. 62107501 c.299T>C p.I100T missense 0.00028830●●●●●●
7. 62112193 c.142A>G p.I48V missense 0.00028012●●●●●●
8. 62104567 c.605G>A p.S202N missense 0.00015726●●●●●●
9. 62103252 c.895C>G p.L299V missense 0.00014881●●●●●●
10. 62106082 c.444G>T p.L148F missense 0.00013282●●●●●●
11. 62103334 c.813G>T p.Q271H missense 0.00012366●●●●●●
12. 62115531 c.112A>G p.I38V missense 0.00009840●●●●●●
13. 62099681 c.1168G>T p.V390F missense 0.00009065●●●●●●
14. 62096600 c.1580G>A p.R527Q missense 0.00008291●●●●●●
15. 62099615 c.1234A>G p.I412V missense 0.00007422●●●●●●
16. 62112201 c.134C>T p.A45V missense 0.00006592●●●●●●
17. 62106083 c.443T>G p.L148W missense 0.00005808●●●●●●
18. 62115618 c.25A>G p.S9G missense 0.00005496●●●●●●
19. 62106093 c.433A>G p.I145V missense 0.00004973●●●●●●
20. 62115560 c.83A>G p.D28G missense 0.00004502●●●●●●
21. 62100244 c.1018A>G p.I340V missense 0.00004119●●●●●●
22. 62110635 c.229A>G p.I77V missense 0.00003650●●●●●●
23. 62104529 c.643G>A p.G215S missense 0.00003324●●●●●●
24. 62099677 c.1172G>A p.R391H missense 0.00003296●●●●●●
25. 62100192 c.1070G>C p.G357A missense 0.00003295●●●●●●
26. 62099357 c.1351G>A p.V451I missense 0.00003295●●●●●●
27. 62115559 c.84C>G p.D28E missense 0.00002701●●●●●●
28. 62104556 c.616A>G p.R206G missense 0.00002485●●●●●●
29. 62099221 c.1487G>A p.R496Q missense 0.00002484●●●●●●
30. 62112159 c.176A>C p.K59T missense 0.00002472●●●●●●
31. 62107447 c.353A>T p.D118V missense 0.00002471●●●●●●
32. 62099353 c.1355G>A p.R452H missense 0.00002471●●●●●●
33. 62110677 c.187G>A p.D63N missense 0.00002053●●●●●●
34. 62115600 c.43G>A p.A15T missense 0.00001842●●●●●●
35. 62115634 c.9G>C p.E3D missense 0.00001814●●●●●●
36. 62115575 c.68C>T p.A23V missense 0.00001814●●●●●●
37. 62115569 c.74A>G p.Q25R missense 0.00001809●●●●●●
38. 62115519 c.124A>G p.K42E missense 0.00001800●●●●●●
39. 62115544 c.99C>G p.I33M missense 0.00001786●●●●●●
40. 62106012 c.514A>G p.N172D missense 0.00001750●●●●●●
41. 62100413 c.933T>A p.D311E missense 0.00001726●●●●●●
42. 62106132 c.394A>G p.I132V missense 0.00001671●●●●●●
43. 62096576 c.1604T>C p.V535A missense 0.00001671●●●●●●
44. 62100355 c.991G>C p.E331Q missense 0.00001660●●●●●●
45. 62099426 c.1282C>T p.P428S missense 0.00001658●●●●●●
46. 62104559 c.613C>A p.L205I missense 0.00001656●●●●●●
47. 62104076 c.756C>G p.C252W missense 0.00001656●●●●●●
48. 62096640 c.1540G>A p.V514I missense 0.00001655●●●●●●
49. 62104570 c.602C>G p.T201S missense 0.00001655●●●●●●
50. 62099720 c.1129A>G p.T377A missense 0.00001654●●●●●●
51. 62099614 c.1235T>C p.I412T missense 0.00001650●●●●●●
52. 62103351 c.796G>A p.V266I missense 0.00001650●●●●●●
53. 62095831 c.1616G>A p.R539Q missense 0.00001650●●●●●●
54. 62099393 c.1315T>C p.Y439H missense 0.00001649●●●●●●
55. 62103312 c.835G>C p.E279Q missense 0.00001649●●●●●●
56. 62103339 c.808G>T p.A270S missense 0.00001649●●●●●●
57. 62099354 c.1354C>T p.R452C missense 0.00001648●●●●●●
58. 62099648 c.1201G>T p.A401S missense 0.00001648●●●●●●
59. 62099372 c.1336A>G p.M446V missense 0.00001648●●●●●●
60. 62099261 c.1447C>G p.R483G missense 0.00001648●●●●●●
61. 62100243 c.1019T>A p.I340N missense 0.00001648●●●●●●
62. 62100232 c.1030C>G p.P344A missense 0.00001648●●●●●●
63. 62099292 c.1416T>G p.N472K missense 0.00001648●●●●●●
64. 62100187 c.1075G>T p.A359S missense 0.00001647●●●●●●
65. 62100193 c.1069G>T p.G357C missense 0.00001647●●●●●●
66. 62107468 c.332T>C p.I111T missense 0.00001647●●●●●●
67. 62107502 c.298A>G p.I100V missense 0.00001647●●●●●●
68. 62110680 c.184C>G p.Q62E missense 0.00001060●●●●●●
69. 62110609 c.255T>G p.H85Q missense 0.00000999●●●●●●
70. 62110656 c.208A>G p.I70V missense 0.00000934●●●●●●
71. 62115603 c.40G>A p.G14R missense 0.00000920●●●●●●
72. 62115615 c.28G>A p.G10R missense 0.00000918●●●●●●
73. 62115614 c.29G>A p.G10E missense 0.00000918●●●●●●
74. 62115621 c.22C>T p.R8W missense 0.00000916●●●●●●
75. 62115579 c.64G>A p.G22S missense 0.00000914●●●●●●
76. 62115624 c.19C>T p.P7S missense 0.00000912●●●●●●
77. 62115627 c.16G>C p.A6P missense 0.00000910●●●●●●
78. 62115572 c.71A>T p.Y24F missense 0.00000906●●●●●●
79. 62115639 c.4C>T p.P2S missense 0.00000905●●●●●●
80. 62115565 c.78C>G p.D26E missense 0.00000902●●●●●●
81. 62115555 c.88C>G p.P30A missense 0.00000899●●●●●●
82. 62100417 c.929G>A p.S310N missense 0.00000872●●●●●●
83. 62099447 c.1261C>T p.L421F missense 0.00000865●●●●●●
84. 62099447 c.1261C>G p.L421V missense 0.00000865●●●●●●
85. 62100414 c.932A>G p.D311G missense 0.00000864●●●●●●
86. 62100397 c.949C>G p.L317V missense 0.00000848●●●●●●
87. 62106144 c.382A>G p.I128V missense 0.00000843●●●●●●
88. 62100383 c.963G>T p.K321N missense 0.00000842●●●●●●
89. 62100380 c.966C>G p.I322M missense 0.00000836●●●●●●
90. 62100379 c.967A>G p.M323V missense 0.00000835●●●●●●
91. 62106068 c.458G>A p.R153Q missense 0.00000835●●●●●●
92. 62106072 c.454T>C p.S152P missense 0.00000833●●●●●●
93. 62100371 c.975T>G p.I325M missense 0.00000833●●●●●●
94. 62104630 c.542G>C p.S181T missense 0.00000832●●●●●●
95. 62106119 c.407C>T p.S136L missense 0.00000831●●●●●●
96. 62100366 c.980A>G p.D327G missense 0.00000831●●●●●●
97. 62106082 c.444G>C p.L148F missense 0.00000830●●●●●●
98. 62106112 c.414G>C p.Q138H missense 0.00000829●●●●●●
99. 62100345 c.1001A>T p.E334V missense 0.00000829●●●●●●
100. 62106090 c.436G>A p.E146K missense 0.00000829●●●●●●
101. 62096601 c.1579C>G p.R527G missense 0.00000829●●●●●●
102. 62104553 c.619G>A p.D207N missense 0.00000829●●●●●●
103. 62104582 c.590C>A p.P197Q missense 0.00000828●●●●●●
104. 62103249 c.898A>G p.I300V missense 0.00000827●●●●●●
105. 62096630 c.1550G>A p.S517N missense 0.00000827●●●●●●
106. 62096630 c.1550G>C p.S517T missense 0.00000827●●●●●●
107. 62103367 c.780G>C p.M260I missense 0.00000826●●●●●●
108. 62099234 c.1474G>A p.G492S missense 0.00000825●●●●●●
109. 62099398 c.1310C>G p.T437S missense 0.00000825●●●●●●
110. 62099243 c.1465A>G p.K489E missense 0.00000825●●●●●●
111. 62103347 c.800C>G p.S267C missense 0.00000825●●●●●●
112. 62099399 c.1309A>G p.T437A missense 0.00000825●●●●●●
113. 62103357 c.790A>G p.I264V missense 0.00000825●●●●●●
114. 62103284 c.863A>C p.K288T missense 0.00000825●●●●●●
115. 62104179 c.653T>C p.I218T missense 0.00000825●●●●●●
116. 62104118 c.714A>G p.I238M missense 0.00000824●●●●●●
117. 62100241 c.1021G>C p.G341R missense 0.00000824●●●●●●
118. 62099389 c.1319C>T p.S440L missense 0.00000824●●●●●●
119. 62099336 c.1372A>G p.M458V missense 0.00000824●●●●●●
120. 62099686 c.1163T>C p.I388T missense 0.00000824●●●●●●
121. 62103341 c.806A>C p.Y269S missense 0.00000824●●●●●●
122. 62100226 c.1036G>T p.A346S missense 0.00000824●●●●●●
123. 62100165 c.1097A>C p.N366T missense 0.00000824●●●●●●
124. 62103305 c.842C>T p.A281V missense 0.00000824●●●●●●
125. 62104123 c.709G>A p.G237S missense 0.00000824●●●●●●
126. 62103335 c.812A>G p.Q271R missense 0.00000824●●●●●●
127. 62099689 c.1160C>A p.T387K missense 0.00000824●●●●●●
128. 62099672 c.1177T>G p.S393A missense 0.00000824●●●●●●
129. 62099386 c.1322G>A p.R441Q missense 0.00000824●●●●●●
130. 62100229 c.1033G>A p.V345I missense 0.00000824●●●●●●
131. 62099271 c.1437A>T p.E479D missense 0.00000824●●●●●●
132. 62100166 c.1096A>G p.N366D missense 0.00000824●●●●●●
133. 62104150 c.682G>A p.V228I missense 0.00000824●●●●●●
134. 62103338 c.809C>A p.A270D missense 0.00000824●●●●●●
135. 62107495 c.305C>T p.A102V missense 0.00000824●●●●●●
136. 62099250 c.1458G>T p.Q486H missense 0.00000824●●●●●●
137. 62099690 c.1159A>G p.T387A missense 0.00000824●●●●●●
138. 62099656 c.1193T>C p.I398T missense 0.00000824●●●●●●
139. 62099387 c.1321C>G p.R441G missense 0.00000824●●●●●●
140. 62099320 c.1388C>G p.S463C missense 0.00000824●●●●●●
141. 62100214 c.1048C>A p.Q350K missense 0.00000824●●●●●●
142. 62100189 c.1073C>T p.S358F missense 0.00000824●●●●●●
143. 62099678 c.1171C>T p.R391C missense 0.00000824●●●●●●
144. 62103317 c.830G>A p.R277Q missense 0.00000824●●●●●●
145. 62099627 c.1222G>T p.A408S missense 0.00000824●●●●●●
146. 62104116 c.716C>T p.T239I missense 0.00000824●●●●●●
147. 62100205 c.1057G>A p.A353T missense 0.00000824●●●●●●
148. 62099362 c.1346A>G p.Y449C missense 0.00000824●●●●●●
149. 62099261 c.1447C>T p.R483W 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.