CNOT4 variants in ExAC

CNOT4 gene summary
CNOT4 variants in

The table below lists the CNOT4 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. 135095260 c.821+5G>A splice site 0.01540393●●●●●●
5. 135099069 c.561+11C>T splice site 0.01063865●●●●●●
6. 135095403 c.688-5G>A splice site 0.00521545●●●●●●
7. 135047811 c.1968C>G p.H656Q missense 0.00120913●●●●●●
8. 135107102 c.175C>G p.P59A missense 0.00080445●●●●●●
9. 135122899 c.174+7A>T splice site 0.00050916●●●●●●
10. 135079024 c.1273G>A p.V425I missense 0.00027328●●●●●●
11. 135048671 c.1775C>A p.T592N missense 0.00020381●●●●●●
12. 135047890 c.1889A>G p.N630S missense 0.00018224●●●●●●
13. 135078909 c.1388A>G p.N463S missense 0.00015734●●●●●●
14. 135099074 c.561+6A>G splice site 0.00009992●●●●●●
15. 135095319 c.767C>T p.T256M missense 0.00009960●●●●●●
16. 135078730 c.1567T>C p.F523L missense 0.00009955●●●●●●
17. 135048712 c.1734_1736delTTC p.S578_S579delinsS inframe 0.00009746●●●●●●
18. 135099136 c.505G>A p.A169T missense 0.00009118●●●●●●
19. 135047690 c.2089C>G p.P697A missense 0.00008287●●●●●●
20. 135078711 c.1586C>T p.P529L missense 0.00007522●●●●●●
21. 135095337 c.749A>G p.N250S missense 0.00006641●●●●●●
22. 135047807 c.1972G>A p.A658T missense 0.00005798●●●●●●
23. 135082934 c.866A>G p.D289G missense 0.00005008●●●●●●
24. 135078991 c.1306C>G p.L436V missense 0.00004969●●●●●●
25. 135080448 c.1067G>T p.S356I missense 0.00004969●●●●●●
26. 135123073 c.7C>T p.R3C missense 0.00004307●●●●●●
27. 135078777 c.1520G>C p.S507T missense 0.00004142●●●●●●
28. 135078807 c.1490G>A p.R497H missense 0.00003313●●●●●●
29. 135078964 c.1333A>G p.T445A missense 0.00003313●●●●●●
30. 135080619 c.896C>T p.T299M missense 0.00002498●●●●●●
31. 135095397 c.689C>T p.A230V missense 0.00002497●●●●●●
32. 135079117 c.1180G>A p.G394S missense 0.00002496●●●●●●
33. 135095322 c.764C>T p.S255F missense 0.00002490●●●●●●
34. 135047740 c.2039C>T p.P680L missense 0.00002486●●●●●●
35. 135047905 c.1874C>G p.S625C missense 0.00002486●●●●●●
36. 135047785 c.1994C>T p.P665L missense 0.00002485●●●●●●
37. 135106946 c.331G>A p.V111I missense 0.00002485●●●●●●
38. 135078808 c.1489C>T p.R497C missense 0.00002485●●●●●●
39. 135078868 c.1429C>T p.P477S missense 0.00002484●●●●●●
40. 135048633 c.1813A>G p.S605G missense 0.00001780●●●●●●
41. 135048681 c.1765A>G p.T589A missense 0.00001772●●●●●●
42. 135048719 c.1727A>C p.N576T missense 0.00001772●●●●●●
43. 135048699 c.1747G>A p.A583T missense 0.00001772●●●●●●
44. 135079175 c.1130-8C>G splice site 0.00001746●●●●●●
45. 135079171 c.1130-4A>G splice site 0.00001738●●●●●●
46. 135123072 c.8G>A p.R3H missense 0.00001717●●●●●●
47. 135080640 c.880-5T>C splice site 0.00001705●●●●●●
48. 135122901 c.174+5A>G splice site 0.00001692●●●●●●
49. 135100015 c.373-4A>T splice site 0.00001677●●●●●●
50. 135082945 c.855A>G p.I285M missense 0.00001669●●●●●●
51. 135080619 c.896C>G p.T299R missense 0.00001665●●●●●●
52. 135047938 c.1841G>A p.G614D missense 0.00001665●●●●●●
53. 135099075 c.561+5T>C splice site 0.00001665●●●●●●
54. 135095264 c.821+1delG essential splice site 0.00001662●●●●●●
55. 135095264 c.821+1G>A essential splice site 0.00001662●●●●●●
56. 135099918 c.459+7A>G splice site 0.00001661●●●●●●
57. 135099184 c.460-3T>C splice site 0.00001661●●●●●●
58. 135099185 c.460-4T>G splice site 0.00001661●●●●●●
59. 135047920 c.1859G>C p.G620A missense 0.00001660●●●●●●
60. 135099929 c.455C>T p.S152L missense 0.00001659●●●●●●
61. 135099108 c.533A>G p.N178S missense 0.00001658●●●●●●
62. 135047680 c.2099C>A p.T700N missense 0.00001658●●●●●●
63. 135078793 c.1504G>A p.A502T missense 0.00001657●●●●●●
64. 135078773 c.1524_1526delCAT p.I508_M509delinsM inframe 0.00001657●●●●●●
65. 135047719 c.2060C>T p.P687L missense 0.00001657●●●●●●
66. 135078973 c.1324C>T p.H442Y missense 0.00001656●●●●●●
67. 135078783 c.1514G>A p.R505H missense 0.00001656●●●●●●
68. 135047849 c.1930A>G p.M644V missense 0.00001656●●●●●●
69. 135078849 c.1448G>A p.R483Q missense 0.00001656●●●●●●
70. 135079062 c.1235G>A p.R412Q missense 0.00001656●●●●●●
71. 135048643 c.1803C>A p.D601E missense 0.00000888●●●●●●
72. 135048641 c.1805G>A p.S602N missense 0.00000888●●●●●●
73. 135048779 c.1667G>A p.W556X nonsense 0.00000887●●●●●●
74. 135048660 c.1786G>A p.D596N missense 0.00000887●●●●●●
75. 135048747 c.1699A>G p.I567V missense 0.00000886●●●●●●
76. 135048680 c.1766C>T p.T589M missense 0.00000886●●●●●●
77. 135078676 c.1621G>A p.V541I missense 0.00000861●●●●●●
78. 135078679 c.1618C>T p.P540S missense 0.00000855●●●●●●
79. 135123067 c.13C>T p.P5S missense 0.00000852●●●●●●
80. 135078685 c.1612G>C p.G538R missense 0.00000849●●●●●●
81. 135078692 c.1605_1610dupTCTGGG p.Leu536_Gly537dup inframe 0.00000848●●●●●●
82. 135080635 c.880A>T p.I294L missense 0.00000845●●●●●●
83. 135122903 c.174+3A>G splice site 0.00000844●●●●●●
84. 135080631 c.884C>A p.S295Y missense 0.00000841●●●●●●
85. 135082913 c.879+8T>C splice site 0.00000839●●●●●●
86. 135100015 c.373-4A>G splice site 0.00000838●●●●●●
87. 135080380 c.1129+6T>A splice site 0.00000838●●●●●●
88. 135080382 c.1129+4T>C splice site 0.00000836●●●●●●
89. 135082928 c.872C>G p.S291C missense 0.00000835●●●●●●
90. 135082938 c.862G>A p.G288S missense 0.00000835●●●●●●
91. 135082931 c.869A>G p.N290S missense 0.00000835●●●●●●
92. 135079122 c.1175G>C p.G392A missense 0.00000834●●●●●●
93. 135098332 c.592T>C p.Y198H missense 0.00000833●●●●●●
94. 135078721 c.1576T>G p.L526V missense 0.00000832●●●●●●
95. 135095396 c.690G>A splice site 0.00000832●●●●●●
96. 135079108 c.1189A>C p.K397Q missense 0.00000830●●●●●●
97. 135095342 c.744T>G p.N248K missense 0.00000830●●●●●●
98. 135095311 c.775G>T p.V259F missense 0.00000830●●●●●●
99. 135080607 c.908C>T p.P303L missense 0.00000830●●●●●●
100. 135099093 c.548G>C p.G183A missense 0.00000830●●●●●●
101. 135123017 c.63G>T p.L21F missense 0.00000830●●●●●●
102. 135095289 c.797T>C p.V266A missense 0.00000830●●●●●●
103. 135098292 c.632T>C p.M211T missense 0.00000830●●●●●●
104. 135095317 c.769G>A p.G257S missense 0.00000830●●●●●●
105. 135095310 c.776T>C p.V259A missense 0.00000830●●●●●●
106. 135078729 c.1568T>C p.F523S missense 0.00000830●●●●●●
107. 135095284 c.802C>T p.P268S missense 0.00000830●●●●●●
108. 135079107 c.1190A>T p.K397I missense 0.00000830●●●●●●
109. 135080601 c.914G>T p.G305V missense 0.00000829●●●●●●
110. 135080527 c.988G>T p.V330L missense 0.00000829●●●●●●
111. 135047773 c.2006C>G p.A669G missense 0.00000829●●●●●●
112. 135122964 c.116G>A p.R39Q missense 0.00000829●●●●●●
113. 135080538 c.977T>C p.F326S missense 0.00000829●●●●●●
114. 135047779 c.2000A>C p.H667P missense 0.00000829●●●●●●
115. 135080409 c.1106A>C p.E369A missense 0.00000829●●●●●●
116. 135080542 c.973C>T p.P325S missense 0.00000829●●●●●●
117. 135099160 c.481G>C p.V161L missense 0.00000829●●●●●●
118. 135080548 c.967C>T p.R323W missense 0.00000829●●●●●●
119. 135047790 c.1989G>T p.Q663H missense 0.00000829●●●●●●
120. 135047654 c.2125A>T p.T709S missense 0.00000829●●●●●●
121. 135080565 c.950C>T p.S317L missense 0.00000829●●●●●●
122. 135099171 c.470C>G p.A157G missense 0.00000829●●●●●●
123. 135047693 c.2086C>T p.P696S missense 0.00000829●●●●●●
124. 135047737 c.2042C>T p.S681F missense 0.00000829●●●●●●
125. 135099135 c.506C>T p.A169V missense 0.00000829●●●●●●
126. 135123004 c.76A>G p.I26V missense 0.00000829●●●●●●
127. 135047657 c.2122T>G p.S708A missense 0.00000829●●●●●●
128. 135047693 c.2086C>A p.P696T missense 0.00000829●●●●●●
129. 135107080 c.197T>C p.V66A missense 0.00000829●●●●●●
130. 135078854 c.1443G>C p.Q481H missense 0.00000828●●●●●●
131. 135047814 c.1965C>A p.H655Q missense 0.00000828●●●●●●
132. 135078931 c.1366C>T p.P456S missense 0.00000828●●●●●●
133. 135080453 c.1062C>A p.F354L missense 0.00000828●●●●●●
134. 135047704 c.2075C>T p.T692I missense 0.00000828●●●●●●
135. 135047849 c.1930A>T p.M644L missense 0.00000828●●●●●●
136. 135078867 c.1430C>G p.P477R missense 0.00000828●●●●●●
137. 135106945 c.332T>G p.V111G missense 0.00000828●●●●●●
138. 135047820 c.1959G>C p.Q653H missense 0.00000828●●●●●●
139. 135079012 c.1285C>G p.P429A missense 0.00000828●●●●●●
140. 135078975 c.1322C>T p.S441L missense 0.00000828●●●●●●
141. 135078844 c.1453G>T p.V485F missense 0.00000828●●●●●●
142. 135078787 c.1510C>G p.P504A missense 0.00000828●●●●●●
143. 135080468 c.1047T>A p.S349R missense 0.00000828●●●●●●
144. 135078820 c.1477G>A p.G493S missense 0.00000828●●●●●●
145. 135047850 c.1929G>T p.E643D missense 0.00000828●●●●●●
146. 135078933 c.1364A>G p.H455R missense 0.00000828●●●●●●
147. 135080418 c.1097C>T p.T366I missense 0.00000828●●●●●●
148. 135078768 c.1529A>G p.H510R missense 0.00000828●●●●●●
149. 135047834 c.1945G>A p.A649T missense 0.00000828●●●●●●
150. 135079040 c.1257T>G p.I419M missense 0.00000828●●●●●●
151. 135079002 c.1295C>T p.S432L missense 0.00000828●●●●●●
152. 135080480 c.1035C>A p.N345K missense 0.00000828●●●●●●
153. 135078846 c.1451C>T p.A484V missense 0.00000828●●●●●●
154. 135078970 c.1327A>G p.T443A missense 0.00000828●●●●●●
155. 135047803 c.1976C>A p.P659H missense 0.00000828●●●●●●
156. 135078787 c.1510C>T p.P504S missense 0.00000828●●●●●●
157. 135078783 c.1514G>T p.R505L 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.