CNOT4 missense variants in ExAC

CNOT4 gene summary
CNOT4 variants in

The table below lists the CNOT4 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. 135048804 c.1642G>A p.V548I missense 0.26531083●●●●●●
2. 135082953 c.847C>G p.L283V missense 0.07218542●●●●●●
3. 135123060 c.20C>G p.A7G missense 0.01694431●●●●●●
4. 135047811 c.1968C>G p.H656Q missense 0.00120913●●●●●●
5. 135107102 c.175C>G p.P59A missense 0.00080445●●●●●●
6. 135079024 c.1273G>A p.V425I missense 0.00027328●●●●●●
7. 135048671 c.1775C>A p.T592N missense 0.00020381●●●●●●
8. 135047890 c.1889A>G p.N630S missense 0.00018224●●●●●●
9. 135078909 c.1388A>G p.N463S missense 0.00015734●●●●●●
10. 135095319 c.767C>T p.T256M missense 0.00009960●●●●●●
11. 135078730 c.1567T>C p.F523L missense 0.00009955●●●●●●
12. 135099136 c.505G>A p.A169T missense 0.00009118●●●●●●
13. 135047690 c.2089C>G p.P697A missense 0.00008287●●●●●●
14. 135078711 c.1586C>T p.P529L missense 0.00007522●●●●●●
15. 135095337 c.749A>G p.N250S missense 0.00006641●●●●●●
16. 135047807 c.1972G>A p.A658T missense 0.00005798●●●●●●
17. 135082934 c.866A>G p.D289G missense 0.00005008●●●●●●
18. 135078991 c.1306C>G p.L436V missense 0.00004969●●●●●●
19. 135080448 c.1067G>T p.S356I missense 0.00004969●●●●●●
20. 135123073 c.7C>T p.R3C missense 0.00004307●●●●●●
21. 135078777 c.1520G>C p.S507T missense 0.00004142●●●●●●
22. 135078807 c.1490G>A p.R497H missense 0.00003313●●●●●●
23. 135078964 c.1333A>G p.T445A missense 0.00003313●●●●●●
24. 135080619 c.896C>T p.T299M missense 0.00002498●●●●●●
25. 135095397 c.689C>T p.A230V missense 0.00002497●●●●●●
26. 135079117 c.1180G>A p.G394S missense 0.00002496●●●●●●
27. 135095322 c.764C>T p.S255F missense 0.00002490●●●●●●
28. 135047905 c.1874C>G p.S625C missense 0.00002486●●●●●●
29. 135047740 c.2039C>T p.P680L missense 0.00002486●●●●●●
30. 135106946 c.331G>A p.V111I missense 0.00002485●●●●●●
31. 135078808 c.1489C>T p.R497C missense 0.00002485●●●●●●
32. 135047785 c.1994C>T p.P665L missense 0.00002485●●●●●●
33. 135078868 c.1429C>T p.P477S missense 0.00002484●●●●●●
34. 135048633 c.1813A>G p.S605G missense 0.00001780●●●●●●
35. 135048681 c.1765A>G p.T589A missense 0.00001772●●●●●●
36. 135048699 c.1747G>A p.A583T missense 0.00001772●●●●●●
37. 135048719 c.1727A>C p.N576T missense 0.00001772●●●●●●
38. 135123072 c.8G>A p.R3H missense 0.00001717●●●●●●
39. 135082945 c.855A>G p.I285M missense 0.00001669●●●●●●
40. 135080619 c.896C>G p.T299R missense 0.00001665●●●●●●
41. 135047938 c.1841G>A p.G614D missense 0.00001665●●●●●●
42. 135047920 c.1859G>C p.G620A missense 0.00001660●●●●●●
43. 135099929 c.455C>T p.S152L missense 0.00001659●●●●●●
44. 135047680 c.2099C>A p.T700N missense 0.00001658●●●●●●
45. 135099108 c.533A>G p.N178S missense 0.00001658●●●●●●
46. 135047719 c.2060C>T p.P687L missense 0.00001657●●●●●●
47. 135078793 c.1504G>A p.A502T missense 0.00001657●●●●●●
48. 135078973 c.1324C>T p.H442Y missense 0.00001656●●●●●●
49. 135078783 c.1514G>A p.R505H missense 0.00001656●●●●●●
50. 135047849 c.1930A>G p.M644V missense 0.00001656●●●●●●
51. 135079062 c.1235G>A p.R412Q missense 0.00001656●●●●●●
52. 135078849 c.1448G>A p.R483Q missense 0.00001656●●●●●●
53. 135048641 c.1805G>A p.S602N missense 0.00000888●●●●●●
54. 135048643 c.1803C>A p.D601E missense 0.00000888●●●●●●
55. 135048660 c.1786G>A p.D596N missense 0.00000887●●●●●●
56. 135048680 c.1766C>T p.T589M missense 0.00000886●●●●●●
57. 135048747 c.1699A>G p.I567V missense 0.00000886●●●●●●
58. 135078676 c.1621G>A p.V541I missense 0.00000861●●●●●●
59. 135078679 c.1618C>T p.P540S missense 0.00000855●●●●●●
60. 135123067 c.13C>T p.P5S missense 0.00000852●●●●●●
61. 135078685 c.1612G>C p.G538R missense 0.00000849●●●●●●
62. 135080635 c.880A>T p.I294L missense 0.00000845●●●●●●
63. 135080631 c.884C>A p.S295Y missense 0.00000841●●●●●●
64. 135082928 c.872C>G p.S291C missense 0.00000835●●●●●●
65. 135082938 c.862G>A p.G288S missense 0.00000835●●●●●●
66. 135082931 c.869A>G p.N290S missense 0.00000835●●●●●●
67. 135079122 c.1175G>C p.G392A missense 0.00000834●●●●●●
68. 135098332 c.592T>C p.Y198H missense 0.00000833●●●●●●
69. 135078721 c.1576T>G p.L526V missense 0.00000832●●●●●●
70. 135080607 c.908C>T p.P303L missense 0.00000830●●●●●●
71. 135095342 c.744T>G p.N248K missense 0.00000830●●●●●●
72. 135095311 c.775G>T p.V259F missense 0.00000830●●●●●●
73. 135079108 c.1189A>C p.K397Q missense 0.00000830●●●●●●
74. 135095310 c.776T>C p.V259A missense 0.00000830●●●●●●
75. 135123017 c.63G>T p.L21F missense 0.00000830●●●●●●
76. 135098292 c.632T>C p.M211T missense 0.00000830●●●●●●
77. 135095317 c.769G>A p.G257S missense 0.00000830●●●●●●
78. 135099093 c.548G>C p.G183A missense 0.00000830●●●●●●
79. 135095284 c.802C>T p.P268S missense 0.00000830●●●●●●
80. 135095289 c.797T>C p.V266A missense 0.00000830●●●●●●
81. 135079107 c.1190A>T p.K397I missense 0.00000830●●●●●●
82. 135078729 c.1568T>C p.F523S missense 0.00000830●●●●●●
83. 135080409 c.1106A>C p.E369A missense 0.00000829●●●●●●
84. 135047779 c.2000A>C p.H667P missense 0.00000829●●●●●●
85. 135080542 c.973C>T p.P325S missense 0.00000829●●●●●●
86. 135122964 c.116G>A p.R39Q missense 0.00000829●●●●●●
87. 135080538 c.977T>C p.F326S missense 0.00000829●●●●●●
88. 135099160 c.481G>C p.V161L missense 0.00000829●●●●●●
89. 135047790 c.1989G>T p.Q663H missense 0.00000829●●●●●●
90. 135080565 c.950C>T p.S317L missense 0.00000829●●●●●●
91. 135047654 c.2125A>T p.T709S missense 0.00000829●●●●●●
92. 135123004 c.76A>G p.I26V missense 0.00000829●●●●●●
93. 135047693 c.2086C>T p.P696S missense 0.00000829●●●●●●
94. 135080548 c.967C>T p.R323W missense 0.00000829●●●●●●
95. 135047737 c.2042C>T p.S681F missense 0.00000829●●●●●●
96. 135099171 c.470C>G p.A157G missense 0.00000829●●●●●●
97. 135047693 c.2086C>A p.P696T missense 0.00000829●●●●●●
98. 135047657 c.2122T>G p.S708A missense 0.00000829●●●●●●
99. 135080601 c.914G>T p.G305V missense 0.00000829●●●●●●
100. 135047773 c.2006C>G p.A669G missense 0.00000829●●●●●●
101. 135099135 c.506C>T p.A169V missense 0.00000829●●●●●●
102. 135107080 c.197T>C p.V66A missense 0.00000829●●●●●●
103. 135080527 c.988G>T p.V330L missense 0.00000829●●●●●●
104. 135080453 c.1062C>A p.F354L missense 0.00000828●●●●●●
105. 135078931 c.1366C>T p.P456S missense 0.00000828●●●●●●
106. 135106945 c.332T>G p.V111G missense 0.00000828●●●●●●
107. 135078867 c.1430C>G p.P477R missense 0.00000828●●●●●●
108. 135079040 c.1257T>G p.I419M missense 0.00000828●●●●●●
109. 135080468 c.1047T>A p.S349R missense 0.00000828●●●●●●
110. 135047814 c.1965C>A p.H655Q missense 0.00000828●●●●●●
111. 135080418 c.1097C>T p.T366I missense 0.00000828●●●●●●
112. 135078975 c.1322C>T p.S441L missense 0.00000828●●●●●●
113. 135078933 c.1364A>G p.H455R missense 0.00000828●●●●●●
114. 135078844 c.1453G>T p.V485F missense 0.00000828●●●●●●
115. 135078787 c.1510C>G p.P504A missense 0.00000828●●●●●●
116. 135047849 c.1930A>T p.M644L missense 0.00000828●●●●●●
117. 135078820 c.1477G>A p.G493S missense 0.00000828●●●●●●
118. 135078768 c.1529A>G p.H510R missense 0.00000828●●●●●●
119. 135047803 c.1976C>A p.P659H missense 0.00000828●●●●●●
120. 135080480 c.1035C>A p.N345K missense 0.00000828●●●●●●
121. 135047820 c.1959G>C p.Q653H missense 0.00000828●●●●●●
122. 135079002 c.1295C>T p.S432L missense 0.00000828●●●●●●
123. 135078970 c.1327A>G p.T443A missense 0.00000828●●●●●●
124. 135078846 c.1451C>T p.A484V missense 0.00000828●●●●●●
125. 135078787 c.1510C>T p.P504S missense 0.00000828●●●●●●
126. 135047850 c.1929G>T p.E643D missense 0.00000828●●●●●●
127. 135079012 c.1285C>G p.P429A missense 0.00000828●●●●●●
128. 135078783 c.1514G>T p.R505L missense 0.00000828●●●●●●
129. 135047834 c.1945G>A p.A649T missense 0.00000828●●●●●●
130. 135047704 c.2075C>T p.T692I missense 0.00000828●●●●●●
131. 135078854 c.1443G>C p.Q481H 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.