CCT6A missense variants in ExAC

CCT6A gene summary
CCT6A variants in

The table below lists the CCT6A 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. 56125757 c.686A>G p.Y229C missense 0.03602408●●●●●●
2. 56128100 c.1204A>G p.I402V missense 0.00274363●●●●●●
3. 56125762 c.691C>T p.L231F missense 0.00113027●●●●●●
4. 56123449 c.469C>T p.R157C missense 0.00063439●●●●●●
5. 56127292 c.1024G>C p.D342H missense 0.00042846●●●●●●
6. 56123426 c.446T>C p.I149T missense 0.00040365●●●●●●
7. 56119558 c.17C>T p.T6I missense 0.00027682●●●●●●
8. 56130725 c.1543A>G p.I515V missense 0.00025533●●●●●●
9. 56128046 c.1150C>G p.L384V missense 0.00019772●●●●●●
10. 56130708 c.1526C>G p.T509S missense 0.00018944●●●●●●
11. 56122104 c.244A>G p.T82A missense 0.00016480●●●●●●
12. 56124095 c.602A>G p.E201G missense 0.00016477●●●●●●
13. 56128098 c.1202C>G p.A401G missense 0.00009062●●●●●●
14. 56126149 c.820A>G p.I274V missense 0.00006698●●●●●●
15. 56130399 c.1474G>A p.V492I missense 0.00006596●●●●●●
16. 56126186 c.857A>T p.D286V missense 0.00005851●●●●●●
17. 56124028 c.535A>G p.I179V missense 0.00005766●●●●●●
18. 56122154 c.294C>G p.I98M missense 0.00005766●●●●●●
19. 56119552 c.11T>C p.V4A missense 0.00005694●●●●●●
20. 56120132 c.155G>C p.G52A missense 0.00004118●●●●●●
21. 56126209 c.880C>A p.Q294K missense 0.00003350●●●●●●
22. 56126164 c.835A>G p.R279G missense 0.00003344●●●●●●
23. 56130384 c.1459A>G p.M487V missense 0.00003296●●●●●●
24. 56123429 c.449A>T p.D150V missense 0.00003295●●●●●●
25. 56126107 c.778G>A p.V260M missense 0.00002538●●●●●●
26. 56126155 c.826G>C p.E276Q missense 0.00002511●●●●●●
27. 56126334 c.907G>A p.D303N missense 0.00002484●●●●●●
28. 56126389 c.962T>C p.M321T missense 0.00002476●●●●●●
29. 56125744 c.673G>T p.V225L missense 0.00002472●●●●●●
30. 56125727 c.656C>T p.P219L missense 0.00002472●●●●●●
31. 56127296 c.1028G>C p.C343S missense 0.00002472●●●●●●
32. 56127276 c.1008T>G p.F336L missense 0.00002472●●●●●●
33. 56120143 c.166C>G p.L56V missense 0.00002471●●●●●●
34. 56126071 c.742T>C p.F248L missense 0.00001756●●●●●●
35. 56126189 c.860A>C p.K287T missense 0.00001672●●●●●●
36. 56126188 c.859A>G p.K287E missense 0.00001671●●●●●●
37. 56129473 c.1381G>A p.E461K missense 0.00001664●●●●●●
38. 56130443 c.1518C>G p.H506Q missense 0.00001661●●●●●●
39. 56129495 c.1403C>G p.A468G missense 0.00001660●●●●●●
40. 56125769 c.698G>C p.C233S missense 0.00001651●●●●●●
41. 56130405 c.1480G>T p.V494L missense 0.00001650●●●●●●
42. 56128542 c.1256C>T p.A419V missense 0.00001649●●●●●●
43. 56128035 c.1139A>G p.N380S missense 0.00001648●●●●●●
44. 56128004 c.1108C>T p.R370C missense 0.00001648●●●●●●
45. 56127257 c.989G>T p.G330V missense 0.00001648●●●●●●
46. 56123444 c.464C>G p.S155C missense 0.00001648●●●●●●
47. 56128101 c.1205T>G p.I402S missense 0.00001648●●●●●●
48. 56128005 c.1109G>A p.R370H missense 0.00001648●●●●●●
49. 56123446 c.466C>T p.L156F missense 0.00001648●●●●●●
50. 56127999 c.1103A>G p.N368S missense 0.00001648●●●●●●
51. 56123450 c.470G>A p.R157H missense 0.00001648●●●●●●
52. 56130391 c.1466C>G p.A489G missense 0.00001648●●●●●●
53. 56122117 c.257A>G p.D86G missense 0.00001648●●●●●●
54. 56130747 c.1565T>C p.M522T missense 0.00001647●●●●●●
55. 56130723 c.1541A>G p.N514S missense 0.00001647●●●●●●
56. 56126081 c.752A>C p.K251T missense 0.00000864●●●●●●
57. 56126084 c.755G>A p.S252N missense 0.00000860●●●●●●
58. 56126085 c.756T>G p.S252R missense 0.00000859●●●●●●
59. 56129446 c.1354G>A p.A452T missense 0.00000842●●●●●●
60. 56129533 c.1441C>G p.L481V missense 0.00000842●●●●●●
61. 56129446 c.1354G>T p.A452S missense 0.00000842●●●●●●
62. 56125795 c.724A>G p.T242A missense 0.00000841●●●●●●
63. 56126140 c.811G>T p.V271F missense 0.00000838●●●●●●
64. 56126149 c.820A>T p.I274L missense 0.00000837●●●●●●
65. 56126209 c.880C>G p.Q294E missense 0.00000837●●●●●●
66. 56126179 c.850G>A p.D284N missense 0.00000836●●●●●●
67. 56126183 c.854C>T p.S285L missense 0.00000836●●●●●●
68. 56126167 c.838A>G p.K280E missense 0.00000836●●●●●●
69. 56126194 c.865T>C p.F289L missense 0.00000836●●●●●●
70. 56126168 c.839A>G p.K280R missense 0.00000836●●●●●●
71. 56129510 c.1418C>T p.S473L missense 0.00000832●●●●●●
72. 56125784 c.713A>G p.E238G missense 0.00000831●●●●●●
73. 56128619 c.1333C>T p.L445F missense 0.00000831●●●●●●
74. 56126317 c.890T>A p.I297N missense 0.00000831●●●●●●
75. 56128505 c.1219G>T p.V407L missense 0.00000830●●●●●●
76. 56126322 c.895C>T p.P299S missense 0.00000830●●●●●●
77. 56129491 c.1399C>G p.Q467E missense 0.00000830●●●●●●
78. 56129497 c.1405G>C p.E469Q missense 0.00000830●●●●●●
79. 56128612 c.1326T>A p.D442E missense 0.00000829●●●●●●
80. 56123320 c.340C>T p.L114F missense 0.00000827●●●●●●
81. 56123477 c.497A>T p.D166V missense 0.00000826●●●●●●
82. 56127963 c.1067G>A p.G356E missense 0.00000826●●●●●●
83. 56130418 c.1493A>G p.Y498C missense 0.00000826●●●●●●
84. 56123330 c.350G>C p.R117T missense 0.00000826●●●●●●
85. 56128521 c.1235G>C p.G412A missense 0.00000826●●●●●●
86. 56130414 c.1489A>G p.N497D missense 0.00000826●●●●●●
87. 56128600 c.1314A>C p.Q438H missense 0.00000826●●●●●●
88. 56126355 c.928A>G p.I310V missense 0.00000826●●●●●●
89. 56128538 c.1252A>G p.M418V missense 0.00000825●●●●●●
90. 56126361 c.934G>T p.A312S missense 0.00000825●●●●●●
91. 56130405 c.1480G>A p.V494I missense 0.00000825●●●●●●
92. 56128583 c.1297G>T p.A433S missense 0.00000825●●●●●●
93. 56123473 c.493G>C p.A165P missense 0.00000825●●●●●●
94. 56127976 c.1080T>G p.F360L missense 0.00000825●●●●●●
95. 56123351 c.371A>T p.E124V missense 0.00000825●●●●●●
96. 56123474 c.494C>G p.A165G missense 0.00000825●●●●●●
97. 56126361 c.934G>A p.A312T missense 0.00000825●●●●●●
98. 56127317 c.1049T>C p.V350A missense 0.00000825●●●●●●
99. 56128590 c.1304T>C p.L435P missense 0.00000825●●●●●●
100. 56123476 c.496G>A p.D166N missense 0.00000825●●●●●●
101. 56128547 c.1261G>T p.A421S missense 0.00000825●●●●●●
102. 56126373 c.946G>A p.A316T missense 0.00000825●●●●●●
103. 56123345 c.365G>C p.G122A missense 0.00000825●●●●●●
104. 56128559 c.1273C>T p.H425Y missense 0.00000825●●●●●●
105. 56123461 c.481C>T p.H161Y missense 0.00000824●●●●●●
106. 56122192 c.332C>T p.S111F missense 0.00000824●●●●●●
107. 56123411 c.431A>G p.D144G missense 0.00000824●●●●●●
108. 56128068 c.1172T>C p.V391A missense 0.00000824●●●●●●
109. 56124061 c.568A>G p.M190V missense 0.00000824●●●●●●
110. 56127989 c.1093A>G p.K365E missense 0.00000824●●●●●●
111. 56122120 c.260T>C p.I87T missense 0.00000824●●●●●●
112. 56122149 c.289C>G p.L97V missense 0.00000824●●●●●●
113. 56125745 c.674T>C p.V225A missense 0.00000824●●●●●●
114. 56128092 c.1196A>G p.K399R missense 0.00000824●●●●●●
115. 56128049 c.1153A>G p.T385A missense 0.00000824●●●●●●
116. 56124007 c.514G>T p.V172L missense 0.00000824●●●●●●
117. 56127289 c.1021C>A p.P341T missense 0.00000824●●●●●●
118. 56124078 c.585G>T p.E195D missense 0.00000824●●●●●●
119. 56127993 c.1097G>T p.C366F missense 0.00000824●●●●●●
120. 56122149 c.289C>A p.L97I missense 0.00000824●●●●●●
121. 56123396 c.416T>C p.V139A missense 0.00000824●●●●●●
122. 56125750 c.679G>A p.D227N missense 0.00000824●●●●●●
123. 56130381 c.1456C>A p.P486T missense 0.00000824●●●●●●
124. 56128064 c.1168G>T p.A390S missense 0.00000824●●●●●●
125. 56124049 c.556A>G p.I186V missense 0.00000824●●●●●●
126. 56127978 c.1082C>G p.T361S missense 0.00000824●●●●●●
127. 56123386 c.406G>A p.E136K missense 0.00000824●●●●●●
128. 56130750 c.1568G>A p.R523Q missense 0.00000824●●●●●●
129. 56122122 c.262A>G p.T88A missense 0.00000824●●●●●●
130. 56122107 c.247G>T p.A83S missense 0.00000824●●●●●●
131. 56125692 c.621C>G p.I207M missense 0.00000824●●●●●●
132. 56125733 c.662T>C p.M221T missense 0.00000824●●●●●●
133. 56128026 c.1130A>G p.K377R missense 0.00000824●●●●●●
134. 56128067 c.1171G>A p.V391M missense 0.00000824●●●●●●
135. 56124055 c.562C>G p.L188V missense 0.00000824●●●●●●
136. 56127983 c.1087A>G p.I363V missense 0.00000824●●●●●●
137. 56122123 c.263C>G p.T88S missense 0.00000824●●●●●●
138. 56128023 c.1127T>A p.I376N missense 0.00000824●●●●●●
139. 56125738 c.667A>G p.K223E missense 0.00000824●●●●●●
140. 56125707 c.636G>C p.L212F 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.