CCT7 variants in ExAC

CCT7 gene summary
CCT7 variants in

The table below lists the CCT7 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. 73467677 c.267+6_267+7delAA splice site 0.35084245●●●●●●
2. 73476302 c.967A>G p.M323V missense 0.00787040●●●●●●
3. 73474972 c.701A>G p.N234S missense 0.00265098●●●●●●
4. 73470262 c.393+5G>A splice site 0.00047237●●●●●●
5. 73478414 c.1264G>A p.D422N missense 0.00046370●●●●●●
6. 73477492 c.1129G>A p.G377S missense 0.00035605●●●●●●
7. 73474882 c.619-8T>C splice site 0.00031310●●●●●●
8. 73479768 c.1411G>C p.G471R missense 0.00018235●●●●●●
9. 73467675 c.267+4_267+5delGG splice site 0.00017712●●●●●●
10. 73477051 c.1070+7C>T splice site 0.00016571●●●●●●
11. 73479807 c.1450A>G p.I484V missense 0.00014078●●●●●●
12. 73478430 c.1280T>C p.I427T missense 0.00013249●●●●●●
13. 73477573 c.1203+7G>A splice site 0.00012426●●●●●●
14. 73479897 c.1540G>A p.V514M missense 0.00009946●●●●●●
15. 73470207 c.343G>C p.G115R missense 0.00008281●●●●●●
16. 73479768 c.1411G>T p.G471W missense 0.00006631●●●●●●
17. 73477454 c.1091G>T p.C364F missense 0.00006626●●●●●●
18. 73470208 c.344G>T p.G115V missense 0.00006625●●●●●●
19. 73466927 c.160+3A>G splice site 0.00005921●●●●●●
20. 73479903 c.1546G>A p.V516I missense 0.00005803●●●●●●
21. 73478429 c.1279A>G p.I427V missense 0.00004968●●●●●●
22. 73479972 c.1615C>T p.R539C missense 0.00004382●●●●●●
23. 73476303 c.968T>C p.M323T missense 0.00004341●●●●●●
24. 73471158 c.427G>A p.V143M missense 0.00004200●●●●●●
25. 73475036 c.765A>G p.I255M missense 0.00004149●●●●●●
26. 73479769 c.1412G>C p.G471A missense 0.00004144●●●●●●
27. 73476212 c.877C>G p.L293V missense 0.00004142●●●●●●
28. 73476950 c.976T>A p.C326S missense 0.00004141●●●●●●
29. 73478489 c.1339C>T p.R447C missense 0.00004140●●●●●●
30. 73461507 c.1A>G p.Met1? missense 0.00003413●●●●●●
31. 73479928 c.1571G>A p.R524H missense 0.00003325●●●●●●
32. 73478382 c.1232C>G p.A411G missense 0.00003315●●●●●●
33. 73478514 c.1364T>G p.F455C missense 0.00003313●●●●●●
34. 73470186 c.322G>T p.V108L missense 0.00003313●●●●●●
35. 73470165 c.301G>A p.A101T missense 0.00003313●●●●●●
36. 73478433 c.1283C>T p.P428L missense 0.00003312●●●●●●
37. 73479967 c.1610G>A p.R537H missense 0.00002584●●●●●●
38. 73471772 c.547G>T p.V183L missense 0.00002540●●●●●●
39. 73471709 c.484G>A p.A162T missense 0.00002533●●●●●●
40. 73466919 c.155G>A p.G52D missense 0.00002527●●●●●●
41. 73466888 c.124C>T p.P42S missense 0.00002499●●●●●●
42. 73478550 c.1400G>A p.R467Q missense 0.00002496●●●●●●
43. 73479931 c.1574C>T p.S525L missense 0.00002495●●●●●●
44. 73475046 c.775A>G p.T259A missense 0.00002494●●●●●●
45. 73475044 c.773A>G p.H258R missense 0.00002493●●●●●●
46. 73466827 c.63G>C p.Q21H missense 0.00002491●●●●●●
47. 73474921 c.650A>C p.K217T missense 0.00002488●●●●●●
48. 73478533 c.1383_1385delCAA p.Asn462del inframe 0.00002487●●●●●●
49. 73479886 c.1529C>T p.A510V missense 0.00002486●●●●●●
50. 73470250 c.386C>T p.T129I missense 0.00002485●●●●●●
51. 73476219 c.884T>C p.I295T missense 0.00002485●●●●●●
52. 73470225 c.361A>G p.I121V missense 0.00002484●●●●●●
53. 73471817 c.592A>G p.K198E missense 0.00001794●●●●●●
54. 73479979 c.1622G>A p.R541H missense 0.00001794●●●●●●
55. 73479973 c.1616G>A p.R539H missense 0.00001753●●●●●●
56. 73479970 c.1613G>A p.G538D missense 0.00001743●●●●●●
57. 73471757 c.532A>G p.M178V missense 0.00001689●●●●●●
58. 73471736 c.511C>A p.Q171K missense 0.00001685●●●●●●
59. 73471737 c.512A>G p.Q171R missense 0.00001684●●●●●●
60. 73478549 c.1399C>T p.R467W missense 0.00001663●●●●●●
61. 73466870 c.106G>C p.V36L missense 0.00001662●●●●●●
62. 73479761 c.1411-7C>T splice site 0.00001660●●●●●●
63. 73479763 c.1411-5T>C splice site 0.00001659●●●●●●
64. 73479862 c.1505C>T p.A502V missense 0.00001657●●●●●●
65. 73476231 c.896C>G p.A299G missense 0.00001657●●●●●●
66. 73479896 c.1539C>G p.I513M missense 0.00001657●●●●●●
67. 73479771 c.1414G>T p.G472C missense 0.00001657●●●●●●
68. 73479769 c.1412G>T p.G471V missense 0.00001657●●●●●●
69. 73479852 c.1495C>T p.R499W missense 0.00001656●●●●●●
70. 73479853 c.1496G>A p.R499Q missense 0.00001656●●●●●●
71. 73470232 c.368G>A p.R123Q missense 0.00001656●●●●●●
72. 73477012 c.1038G>C p.Q346H missense 0.00001656●●●●●●
73. 73479844 c.1487C>T p.A496V missense 0.00001656●●●●●●
74. 73479988 c.1631G>A nonsense 0.00000922●●●●●●
75. 73476313 c.972+6C>A splice site 0.00000909●●●●●●
76. 73471667 c.447-5C>T splice site 0.00000879●●●●●●
77. 73479973 c.1616G>C p.R539P missense 0.00000877●●●●●●
78. 73476306 c.971T>C p.M324T missense 0.00000875●●●●●●
79. 73479971 c.1614_1615insCGTGGC p.Arg537_Gly538dup inframe 0.00000874●●●●●●
80. 73476305 c.970A>G p.M324V missense 0.00000873●●●●●●
81. 73471676 c.451C>G p.Q151E missense 0.00000868●●●●●●
82. 73471689 c.464T>A p.L155Q missense 0.00000855●●●●●●
83. 73479963 c.1606G>T p.G536C missense 0.00000854●●●●●●
84. 73471784 c.559G>A p.D187N missense 0.00000853●●●●●●
85. 73471176 c.445G>A p.V149M missense 0.00000851●●●●●●
86. 73479961 c.1604G>A p.R535Q missense 0.00000849●●●●●●
87. 73471767 c.542A>T p.D181V missense 0.00000846●●●●●●
88. 73474882 c.619-8T>A splice site 0.00000846●●●●●●
89. 73466923 c.159A>G splice site 0.00000844●●●●●●
90. 73466922 c.158G>T p.R53I missense 0.00000843●●●●●●
91. 73471165 c.434A>T p.K145M missense 0.00000841●●●●●●
92. 73467663 c.259G>A p.D87N missense 0.00000841●●●●●●
93. 73471158 c.427G>C p.V143L missense 0.00000840●●●●●●
94. 73478566 c.1410+6T>C splice site 0.00000838●●●●●●
95. 73471139 c.408C>G p.I136M missense 0.00000837●●●●●●
96. 73471135 c.404A>G p.K135R missense 0.00000837●●●●●●
97. 73467558 c.161-7T>G splice site 0.00000837●●●●●●
98. 73466775 c.11C>T p.T4I missense 0.00000837●●●●●●
99. 73475059 c.783+5G>A splice site 0.00000834●●●●●●
100. 73478559 c.1409A>G p.Q470R missense 0.00000834●●●●●●
101. 73475062 c.783+8G>A splice site 0.00000834●●●●●●
102. 73466891 c.127C>T p.R43C missense 0.00000834●●●●●●
103. 73467648 c.244A>G p.I82V missense 0.00000833●●●●●●
104. 73479934 c.1577C>T p.T526I missense 0.00000833●●●●●●
105. 73466882 c.118C>G p.L40V missense 0.00000832●●●●●●
106. 73467642 c.238G>T p.V80L missense 0.00000832●●●●●●
107. 73475052 c.781G>A p.E261K missense 0.00000832●●●●●●
108. 73478549 c.1399C>G p.R467G missense 0.00000832●●●●●●
109. 73466861 c.97G>A p.A33T missense 0.00000831●●●●●●
110. 73475047 c.776C>A p.T259K missense 0.00000831●●●●●●
111. 73479923 c.1566C>A p.N522K missense 0.00000831●●●●●●
112. 73466862 c.98C>T p.A33V missense 0.00000831●●●●●●
113. 73474906 c.635C>T p.A212V missense 0.00000831●●●●●●
114. 73474909 c.638G>A p.G213D missense 0.00000831●●●●●●
115. 73467573 c.169A>C p.T57P missense 0.00000831●●●●●●
116. 73476149 c.814A>G p.N272D missense 0.00000831●●●●●●
117. 73466875 c.111A>C p.R37S missense 0.00000831●●●●●●
118. 73477423 c.1071-11C>T splice site 0.00000831●●●●●●
119. 73474911 c.640G>A p.V214I missense 0.00000830●●●●●●
120. 73467583 c.179A>C p.N60T missense 0.00000830●●●●●●
121. 73476155 c.820C>G p.L274V missense 0.00000830●●●●●●
122. 73466828 c.64C>G p.L22V missense 0.00000830●●●●●●
123. 73479762 c.1411-6_1411-5delTT splice site 0.00000830●●●●●●
124. 73477429 c.1071-5C>T splice site 0.00000830●●●●●●
125. 73466835 c.71G>A p.S24N missense 0.00000830●●●●●●
126. 73476259 c.924G>C p.M308I missense 0.00000830●●●●●●
127. 73467618 c.214_215insT p.His73ProfsTer17 frameshift 0.00000830●●●●●●
128. 73470125 c.268-7C>T splice site 0.00000829●●●●●●
129. 73479768 c.1411G>A p.G471R missense 0.00000829●●●●●●
130. 73479765 c.1411-3T>C splice site 0.00000829●●●●●●
131. 73477052 c.1070+8G>A splice site 0.00000829●●●●●●
132. 73470134 c.270G>T splice site 0.00000829●●●●●●
133. 73479765 c.1411-3T>A splice site 0.00000829●●●●●●
134. 73476163 c.828C>A p.D276E missense 0.00000829●●●●●●
135. 73477446 c.1083T>A p.F361L missense 0.00000829●●●●●●
136. 73474964 c.693G>T p.K231N missense 0.00000829●●●●●●
137. 73479770 c.1413G>C splice site 0.00000829●●●●●●
138. 73476169 c.834A>C p.L278F missense 0.00000829●●●●●●
139. 73479909 c.1552G>A p.E518K missense 0.00000829●●●●●●
140. 73477572 c.1203+6G>A splice site 0.00000828●●●●●●
141. 73478463 c.1313A>G p.Y438C missense 0.00000828●●●●●●
142. 73476941 c.973-6C>T splice site 0.00000828●●●●●●
143. 73478369 c.1219G>A p.A407T missense 0.00000828●●●●●●
144. 73476186 c.851C>T p.S284F missense 0.00000828●●●●●●
145. 73474981 c.710T>C p.I237T missense 0.00000828●●●●●●
146. 73479846 c.1489A>G p.M497V missense 0.00000828●●●●●●
147. 73476222 c.887G>C p.G296A missense 0.00000828●●●●●●
148. 73477558 c.1195G>A p.A399T missense 0.00000828●●●●●●
149. 73477567 c.1203+1G>C essential splice site 0.00000828●●●●●●
150. 73477017 c.1043T>C p.F348S missense 0.00000828●●●●●●
151. 73479831 c.1474G>A p.V492M missense 0.00000828●●●●●●
152. 73478486 c.1336C>T p.P446S missense 0.00000828●●●●●●
153. 73476210 c.875A>G p.K292R missense 0.00000828●●●●●●
154. 73477505 c.1142T>C p.F381S missense 0.00000828●●●●●●
155. 73476943 c.973-4C>G splice site 0.00000828●●●●●●
156. 73477565 c.1202A>G p.K401R missense 0.00000828●●●●●●
157. 73479832 c.1475T>G p.V492G missense 0.00000828●●●●●●
158. 73478403 c.1253A>G p.K418R missense 0.00000828●●●●●●
159. 73477507 c.1144A>T p.M382L missense 0.00000828●●●●●●
160. 73470210 c.346T>G p.L116V missense 0.00000828●●●●●●
161. 73479859 c.1502A>G p.N501S missense 0.00000828●●●●●●
162. 73478357 c.1207G>T p.D403Y missense 0.00000828●●●●●●
163. 73470237 c.373T>G p.F125V missense 0.00000828●●●●●●
164. 73470168 c.304G>A p.A102T missense 0.00000828●●●●●●
165. 73477549 c.1186G>A p.V396I missense 0.00000828●●●●●●
166. 73474978 c.707A>G p.K236R missense 0.00000828●●●●●●
167. 73477487 c.1124G>A p.R375H missense 0.00000828●●●●●●
168. 73479859 c.1502A>T p.N501I missense 0.00000828●●●●●●
169. 73470216 c.352C>T p.P118S missense 0.00000828●●●●●●
170. 73470241 c.377G>A p.R126H missense 0.00000828●●●●●●
171. 73479781 c.1424A>G p.Y475C missense 0.00000828●●●●●●

* 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.