CNOT1 splice variants in ExAC

CNOT1 gene summary
CNOT1 variants in

The table below lists the CNOT1 splice 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. 58566304 c.5896-5C>T splice site 0.28051911●●●●●●
2. 58585180 c.3202-4delT splice site 0.18476635●●●●●●
3. 58585181 c.3202-5_3202-4insT splice site 0.00436575●●●●●●
4. 58587772 c.2892-8G>T splice site 0.00411768●●●●●●
5. 58585733 c.2971-10A>T splice site 0.00137113●●●●●●
6. 58610358 c.1704+9A>C splice site 0.00133593●●●●●●
7. 58577511 c.4434T>A p.R1478R splice site 0.00120432●●●●●●
8. 58621106 c.432C>T p.F144F splice site 0.00106657●●●●●●
9. 58559072 c.6784+11C>T splice site 0.00088191●●●●●●
10. 58589817 c.2480-5A>G splice site 0.00066101●●●●●●
11. 58587679 c.2970+7G>A splice site 0.00042989●●●●●●
12. 58585180 c.3202-4_3202-3delTT splice site 0.00038402●●●●●●
13. 58620446 c.637+3A>G splice site 0.00033902●●●●●●
14. 58576127 c.4680+8T>C splice site 0.00030576●●●●●●
15. 58557267 c.6917+7G>A splice site 0.00016493●●●●●●
16. 58560051 c.6454-9C>G splice site 0.00013203●●●●●●
17. 58585026 c.3342+10C>G splice site 0.00012387●●●●●●
18. 58616815 c.934-8T>C splice site 0.00009900●●●●●●
19. 58589819 c.2480-7C>A splice site 0.00008266●●●●●●
20. 58610494 c.1585-8C>T splice site 0.00007459●●●●●●
21. 58566303 c.5896-4G>T splice site 0.00007444●●●●●●
22. 58589811 c.2481G>A splice site 0.00005780●●●●●●
23. 58622693 c.210+10G>C splice site 0.00005124●●●●●●
24. 58612849 c.1344-6C>T splice site 0.00004303●●●●●●
25. 58594277 c.1980-11C>T splice site 0.00004154●●●●●●
26. 58594273 c.1980-7_1980-6insT splice site 0.00004146●●●●●●
27. 58562376 c.6453+3A>G splice site 0.00004141●●●●●●
28. 58621097 c.433+8A>C splice site 0.00003313●●●●●●
29. 58612848 c.1344-5G>A splice site 0.00002564●●●●●●
30. 58590905 c.2333-8C>T splice site 0.00002525●●●●●●
31. 58573866 c.4801-3C>T splice site 0.00002498●●●●●●
32. 58570887 c.5646+6G>A splice site 0.00002497●●●●●●
33. 58573861 c.4803A>G splice site 0.00002494●●●●●●
34. 58564256 c.6178-5T>G splice site 0.00002493●●●●●●
35. 58564257 c.6178-6_6178-3delTTTC splice site 0.00002492●●●●●●
36. 58583809 c.3343-7C>T splice site 0.00002473●●●●●●
37. 58559270 c.6604-7T>G splice site 0.00001899●●●●●●
38. 58577811 c.4138-4C>T splice site 0.00001777●●●●●●
39. 58577810 c.4138-3dupC splice site 0.00001776●●●●●●
40. 58594273 c.1980-7A>G splice site 0.00001658●●●●●●
41. 58594109 c.2130+7G>A splice site 0.00001657●●●●●●
42. 58581207 c.3640-7A>G splice site 0.00001654●●●●●●
43. 58566303 c.5896-4G>A splice site 0.00001654●●●●●●
44. 58571968 c.5245-4C>A splice site 0.00001648●●●●●●
45. 58622808 c.105T>C splice site 0.00000983●●●●●●
46. 58622698 c.210+5T>G splice site 0.00000974●●●●●●
47. 58592576 c.2133T>C splice site 0.00000958●●●●●●
48. 58559266 c.6604-3A>C splice site 0.00000931●●●●●●
49. 58577810 c.4138-3C>T splice site 0.00000889●●●●●●
50. 58577811 c.4138-4C>G splice site 0.00000888●●●●●●
51. 0 c.3523-12_3523-5delACACTATT splice site 0.00000875●●●●●●
52. 58612848 c.1344-5_1344-4insTGA splice site 0.00000855●●●●●●
53. 58621787 c.211-5T>C splice site 0.00000854●●●●●●
54. 58585181 c.3202-5T>C splice site 0.00000852●●●●●●
55. 58572177 c.5136-7T>C splice site 0.00000843●●●●●●
56. 58573664 c.4992+8C>A splice site 0.00000842●●●●●●
57. 58564144 c.6279+6dupT splice site 0.00000841●●●●●●
58. 58576477 c.4435-5A>C splice site 0.00000840●●●●●●
59. 58572175 c.5136-5T>C splice site 0.00000840●●●●●●
60. 58592369 c.2332+8G>T splice site 0.00000838●●●●●●
61. 58592370 c.2332+7G>T splice site 0.00000838●●●●●●
62. 58619414 c.638-4T>G splice site 0.00000836●●●●●●
63. 58619414 c.638-4T>A splice site 0.00000836●●●●●●
64. 58619414 c.638-4_638-3delTC splice site 0.00000835●●●●●●
65. 58572673 c.5135+3C>A splice site 0.00000833●●●●●●
66. 58583617 c.3522+6A>T splice site 0.00000833●●●●●●
67. 58564258 c.6178-7C>A splice site 0.00000832●●●●●●
68. 58564258 c.6178-7C>G splice site 0.00000832●●●●●●
69. 58590743 c.2479+8G>C splice site 0.00000830●●●●●●
70. 58621328 c.310-11G>A splice site 0.00000830●●●●●●
71. 58614532 c.1343+5delA splice site 0.00000830●●●●●●
72. 58621325 c.310-8T>G splice site 0.00000829●●●●●●
73. 58620656 c.434-4delC splice site 0.00000829●●●●●●
74. 58562375 c.6453+4A>G splice site 0.00000829●●●●●●
75. 58610491 c.1585-5T>C splice site 0.00000829●●●●●●
76. 58620439 c.637+10T>C splice site 0.00000828●●●●●●
77. 58590896 c.2334A>G splice site 0.00000828●●●●●●
78. 58614539 c.1341A>G splice site 0.00000827●●●●●●
79. 58587771 c.2892-7T>C splice site 0.00000827●●●●●●
80. 58585029 c.3342+7A>C splice site 0.00000826●●●●●●
81. 58587683 c.2970+3A>G splice site 0.00000826●●●●●●
82. 58585028 c.3342+8T>C splice site 0.00000826●●●●●●
83. 58585730 c.2971-7C>T splice site 0.00000826●●●●●●
84. 58587680 c.2970+6T>C splice site 0.00000826●●●●●●
85. 58619239 c.806+3T>G splice site 0.00000825●●●●●●
86. 58616813 c.934-6C>T splice site 0.00000825●●●●●●
87. 58585726 c.2971-3T>A splice site 0.00000825●●●●●●
88. 58577507 c.4434+4A>G splice site 0.00000825●●●●●●
89. 58609037 c.1705-4T>C splice site 0.00000825●●●●●●
90. 58616956 c.933+4T>A splice site 0.00000825●●●●●●
91. 58621169 c.379-10_379-8delCTT splice site 0.00000825●●●●●●
92. 58575402 c.4800+3A>G splice site 0.00000824●●●●●●
93. 58576243 c.4576-4G>A splice site 0.00000824●●●●●●
94. 58575522 c.4683T>G splice site 0.00000824●●●●●●
95. 58589685 c.2604+3G>A splice site 0.00000824●●●●●●
96. 58557268 c.6917+6C>T splice site 0.00000824●●●●●●
97. 58557276 c.6915A>G splice site 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.