CCT6A variants in ExAC

CCT6A gene summary
CCT6A variants in

The table below lists the CCT6A 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. 56122058 c.202-4A>T splice site 0.68365998●●●●●●
2. 56125757 c.686A>G p.Y229C missense 0.03602408●●●●●●
3. 56128100 c.1204A>G p.I402V missense 0.00274363●●●●●●
4. 56125762 c.691C>T p.L231F missense 0.00113027●●●●●●
5. 56123449 c.469C>T p.R157C missense 0.00063439●●●●●●
6. 56129553 c.1450+11G>A splice site 0.00053620●●●●●●
7. 56127292 c.1024G>C p.D342H missense 0.00042846●●●●●●
8. 56123426 c.446T>C p.I149T missense 0.00040365●●●●●●
9. 56119685 c.137+7C>T splice site 0.00028047●●●●●●
10. 56119558 c.17C>T p.T6I missense 0.00027682●●●●●●
11. 56130725 c.1543A>G p.I515V missense 0.00025533●●●●●●
12. 56130453 c.1523+5G>A splice site 0.00020839●●●●●●
13. 56128046 c.1150C>G p.L384V missense 0.00019772●●●●●●
14. 56130708 c.1526C>G p.T509S missense 0.00018944●●●●●●
15. 56122104 c.244A>G p.T82A missense 0.00016480●●●●●●
16. 56124095 c.602A>G p.E201G missense 0.00016477●●●●●●
17. 56130695 c.1524-11_1524-8delCCCC splice site 0.00015649●●●●●●
18. 56128098 c.1202C>G p.A401G missense 0.00009062●●●●●●
19. 56128490 c.1214-10C>T splice site 0.00008395●●●●●●
20. 56126149 c.820A>G p.I274V missense 0.00006698●●●●●●
21. 56130399 c.1474G>A p.V492I missense 0.00006596●●●●●●
22. 56126186 c.857A>T p.D286V missense 0.00005851●●●●●●
23. 56130455 c.1523+7T>G splice site 0.00005834●●●●●●
24. 56124028 c.535A>G p.I179V missense 0.00005766●●●●●●
25. 56122154 c.294C>G p.I98M missense 0.00005766●●●●●●
26. 56119552 c.11T>C p.V4A missense 0.00005694●●●●●●
27. 56120185 c.201+7G>A splice site 0.00004118●●●●●●
28. 56120132 c.155G>C p.G52A missense 0.00004118●●●●●●
29. 56126047 c.726-8C>T splice site 0.00003766●●●●●●
30. 56126209 c.880C>A p.Q294K missense 0.00003350●●●●●●
31. 56126164 c.835A>G p.R279G missense 0.00003344●●●●●●
32. 56129478 c.1386_1388delATT p.Leu463del inframe 0.00003325●●●●●●
33. 56130384 c.1459A>G p.M487V missense 0.00003296●●●●●●
34. 56123429 c.449A>T p.D150V missense 0.00003295●●●●●●
35. 56126107 c.778G>A p.V260M missense 0.00002538●●●●●●
36. 56126155 c.826G>C p.E276Q missense 0.00002511●●●●●●
37. 56123494 c.510+4T>C splice site 0.00002489●●●●●●
38. 56123311 c.337-6T>C splice site 0.00002487●●●●●●
39. 56126334 c.907G>A p.D303N missense 0.00002484●●●●●●
40. 56126402 c.968+7G>A splice site 0.00002478●●●●●●
41. 56126389 c.962T>C p.M321T missense 0.00002476●●●●●●
42. 56125727 c.656C>T p.P219L missense 0.00002472●●●●●●
43. 56127276 c.1008T>G p.F336L missense 0.00002472●●●●●●
44. 56125744 c.673G>T p.V225L missense 0.00002472●●●●●●
45. 56127296 c.1028G>C p.C343S missense 0.00002472●●●●●●
46. 56120143 c.166C>G p.L56V missense 0.00002471●●●●●●
47. 56126071 c.742T>C p.F248L missense 0.00001756●●●●●●
48. 56129437 c.1348-3T>C splice site 0.00001741●●●●●●
49. 56129549 c.1450+7G>T splice site 0.00001720●●●●●●
50. 56128493 c.1214-7C>T splice site 0.00001674●●●●●●
51. 56126189 c.860A>C p.K287T missense 0.00001672●●●●●●
52. 56126188 c.859A>G p.K287E missense 0.00001671●●●●●●
53. 56129473 c.1381G>A p.E461K missense 0.00001664●●●●●●
54. 56130446 c.1521C>A splice site 0.00001664●●●●●●
55. 56130443 c.1518C>G p.H506Q missense 0.00001661●●●●●●
56. 56129495 c.1403C>G p.A468G missense 0.00001660●●●●●●
57. 56127331 c.1063T>C splice site 0.00001658●●●●●●
58. 56122058 c.202-4A>C splice site 0.00001653●●●●●●
59. 56122059 c.202-3C>A splice site 0.00001652●●●●●●
60. 56125769 c.698G>C p.C233S missense 0.00001651●●●●●●
61. 56130405 c.1480G>T p.V494L missense 0.00001650●●●●●●
62. 56128542 c.1256C>T p.A419V missense 0.00001649●●●●●●
63. 56127230 c.969-7A>G splice site 0.00001649●●●●●●
64. 56123446 c.466C>T p.L156F missense 0.00001648●●●●●●
65. 56128005 c.1109G>A p.R370H missense 0.00001648●●●●●●
66. 56128101 c.1205T>G p.I402S missense 0.00001648●●●●●●
67. 56123450 c.470G>A p.R157H missense 0.00001648●●●●●●
68. 56127999 c.1103A>G p.N368S missense 0.00001648●●●●●●
69. 56130391 c.1466C>G p.A489G missense 0.00001648●●●●●●
70. 56128035 c.1139A>G p.N380S missense 0.00001648●●●●●●
71. 56122117 c.257A>G p.D86G missense 0.00001648●●●●●●
72. 56128004 c.1108C>T p.R370C missense 0.00001648●●●●●●
73. 56123444 c.464C>G p.S155C missense 0.00001648●●●●●●
74. 56127257 c.989G>T p.G330V missense 0.00001648●●●●●●
75. 56130764 c.1582_1583delTC p.Leu529GlufsTer5 frameshift 0.00001647●●●●●●
76. 56130747 c.1565T>C p.M522T missense 0.00001647●●●●●●
77. 56130698 c.1524-8C>T splice site 0.00001647●●●●●●
78. 56130723 c.1541A>G p.N514S missense 0.00001647●●●●●●
79. 56126052 c.726-3T>C splice site 0.00000918●●●●●●
80. 56126081 c.752A>C p.K251T missense 0.00000864●●●●●●
81. 56126084 c.755G>A p.S252N missense 0.00000860●●●●●●
82. 56126085 c.756T>G p.S252R missense 0.00000859●●●●●●
83. 56129533 c.1441C>G p.L481V missense 0.00000842●●●●●●
84. 56129446 c.1354G>T p.A452S missense 0.00000842●●●●●●
85. 56129446 c.1354G>A p.A452T missense 0.00000842●●●●●●
86. 56125795 c.724A>G p.T242A missense 0.00000841●●●●●●
87. 56126140 c.811G>T p.V271F missense 0.00000838●●●●●●
88. 56128637 c.1347+4T>C splice site 0.00000838●●●●●●
89. 56126209 c.880C>G p.Q294E missense 0.00000837●●●●●●
90. 56126219 c.885+5G>A splice site 0.00000837●●●●●●
91. 56126149 c.820A>T p.I274L missense 0.00000837●●●●●●
92. 56126183 c.854C>T p.S285L missense 0.00000836●●●●●●
93. 56126167 c.838A>G p.K280E missense 0.00000836●●●●●●
94. 56126194 c.865T>C p.F289L missense 0.00000836●●●●●●
95. 56126168 c.839A>G p.K280R missense 0.00000836●●●●●●
96. 56126179 c.850G>A p.D284N missense 0.00000836●●●●●●
97. 56130456 c.1523+8T>C splice site 0.00000834●●●●●●
98. 56129510 c.1418C>T p.S473L missense 0.00000832●●●●●●
99. 56126317 c.890T>A p.I297N missense 0.00000831●●●●●●
100. 56128619 c.1333C>T p.L445F missense 0.00000831●●●●●●
101. 56125784 c.713A>G p.E238G missense 0.00000831●●●●●●
102. 56126322 c.895C>T p.P299S missense 0.00000830●●●●●●
103. 56129491 c.1399C>G p.Q467E missense 0.00000830●●●●●●
104. 56129497 c.1405G>C p.E469Q missense 0.00000830●●●●●●
105. 56128505 c.1219G>T p.V407L missense 0.00000830●●●●●●
106. 56128612 c.1326T>A p.D442E missense 0.00000829●●●●●●
107. 56123310 c.337-7A>G splice site 0.00000829●●●●●●
108. 56127957 c.1066-5C>A splice site 0.00000828●●●●●●
109. 56123320 c.340C>T p.L114F missense 0.00000827●●●●●●
110. 56126401 c.968+6C>T splice site 0.00000826●●●●●●
111. 56123330 c.350G>C p.R117T missense 0.00000826●●●●●●
112. 56130414 c.1489A>G p.N497D missense 0.00000826●●●●●●
113. 56128521 c.1235G>C p.G412A missense 0.00000826●●●●●●
114. 56130418 c.1493A>G p.Y498C missense 0.00000826●●●●●●
115. 56126355 c.928A>G p.I310V missense 0.00000826●●●●●●
116. 56128600 c.1314A>C p.Q438H missense 0.00000826●●●●●●
117. 56123477 c.497A>T p.D166V missense 0.00000826●●●●●●
118. 56127963 c.1067G>A p.G356E missense 0.00000826●●●●●●
119. 56127317 c.1049T>C p.V350A missense 0.00000825●●●●●●
120. 56123473 c.493G>C p.A165P missense 0.00000825●●●●●●
121. 56126361 c.934G>A p.A312T missense 0.00000825●●●●●●
122. 56128590 c.1304T>C p.L435P missense 0.00000825●●●●●●
123. 56128547 c.1261G>T p.A421S missense 0.00000825●●●●●●
124. 56123476 c.496G>A p.D166N missense 0.00000825●●●●●●
125. 56123474 c.494C>G p.A165G missense 0.00000825●●●●●●
126. 56126373 c.946G>A p.A316T missense 0.00000825●●●●●●
127. 56128559 c.1273C>T p.H425Y missense 0.00000825●●●●●●
128. 56123345 c.365G>C p.G122A missense 0.00000825●●●●●●
129. 56130405 c.1480G>A p.V494I missense 0.00000825●●●●●●
130. 56128538 c.1252A>G p.M418V missense 0.00000825●●●●●●
131. 56126361 c.934G>T p.A312S missense 0.00000825●●●●●●
132. 56128583 c.1297G>T p.A433S missense 0.00000825●●●●●●
133. 56127976 c.1080T>G p.F360L missense 0.00000825●●●●●●
134. 56123351 c.371A>T p.E124V missense 0.00000825●●●●●●
135. 56125683 c.615-3C>T splice site 0.00000825●●●●●●
136. 56122120 c.260T>C p.I87T missense 0.00000824●●●●●●
137. 56123993 c.511-11T>C splice site 0.00000824●●●●●●
138. 56124078 c.585G>T p.E195D missense 0.00000824●●●●●●
139. 56128108 c.1212T>C p.D404D splice site 0.00000824●●●●●●
140. 56127289 c.1021C>A p.P341T missense 0.00000824●●●●●●
141. 56122149 c.289C>A p.L97I missense 0.00000824●●●●●●
142. 56125750 c.679G>A p.D227N missense 0.00000824●●●●●●
143. 56128064 c.1168G>T p.A390S missense 0.00000824●●●●●●
144. 56127978 c.1082C>G p.T361S missense 0.00000824●●●●●●
145. 56123386 c.406G>A p.E136K missense 0.00000824●●●●●●
146. 56127993 c.1097G>T p.C366F missense 0.00000824●●●●●●
147. 56130778 c.1596A>C p.Ter532CysextTer10 nonsense 0.00000824●●●●●●
148. 56130750 c.1568G>A p.R523Q missense 0.00000824●●●●●●
149. 56122122 c.262A>G p.T88A missense 0.00000824●●●●●●
150. 56128023 c.1127T>A p.I376N missense 0.00000824●●●●●●
151. 56130700 c.1524-6T>G splice site 0.00000824●●●●●●
152. 56125733 c.662T>C p.M221T missense 0.00000824●●●●●●
153. 56130381 c.1456C>A p.P486T missense 0.00000824●●●●●●
154. 56128026 c.1130A>G p.K377R missense 0.00000824●●●●●●
155. 56122107 c.247G>T p.A83S missense 0.00000824●●●●●●
156. 56125692 c.621C>G p.I207M missense 0.00000824●●●●●●
157. 56128067 c.1171G>A p.V391M missense 0.00000824●●●●●●
158. 56124055 c.562C>G p.L188V missense 0.00000824●●●●●●
159. 56127983 c.1087A>G p.I363V missense 0.00000824●●●●●●
160. 56122123 c.263C>G p.T88S missense 0.00000824●●●●●●
161. 56123396 c.416T>C p.V139A missense 0.00000824●●●●●●
162. 56120107 c.138-8T>C splice site 0.00000824●●●●●●
163. 56125738 c.667A>G p.K223E missense 0.00000824●●●●●●
164. 56123411 c.431A>G p.D144G missense 0.00000824●●●●●●
165. 56127234 c.969-3C>T splice site 0.00000824●●●●●●
166. 56122192 c.332C>T p.S111F missense 0.00000824●●●●●●
167. 56124049 c.556A>G p.I186V missense 0.00000824●●●●●●
168. 56124001 c.511-3C>T splice site 0.00000824●●●●●●
169. 56124061 c.568A>G p.M190V missense 0.00000824●●●●●●
170. 56128092 c.1196A>G p.K399R missense 0.00000824●●●●●●
171. 56125707 c.636G>C p.L212F missense 0.00000824●●●●●●
172. 56123461 c.481C>T p.H161Y missense 0.00000824●●●●●●
173. 56127989 c.1093A>G p.K365E missense 0.00000824●●●●●●
174. 56120181 c.201+3_201+4delGA splice site 0.00000824●●●●●●
175. 56122149 c.289C>G p.L97V missense 0.00000824●●●●●●
176. 56125745 c.674T>C p.V225A missense 0.00000824●●●●●●
177. 56128068 c.1172T>C p.V391A missense 0.00000824●●●●●●
178. 56128049 c.1153A>G p.T385A missense 0.00000824●●●●●●
179. 56124007 c.514G>T p.V172L 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.