TRDN splice variants in ExAC


The table below lists the TRDN 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 frequencyPopulations*
1. 123581792 c.1805-9_1805-8insT splice site 0.43349389
2. 123699042 c.1188A>G p.K396K splice site 0.34231166
3. 123658825 c.1370-11C>A splice site 0.27490138
4. 123594511 c.1598-3dupT splice site 0.27038917
5. 123581789 c.1805-6C>T splice site 0.11695690
6. 123581792 c.1805-9_1805-8insTT splice site 0.06354205
7. 123714764 c.1105+5G>A splice site 0.05190481
8. 123581791 c.1805-8_1805-6delTTCinsTC splice site 0.02253921
9. 123760152 c.932-4C>G splice site 0.00427481
10. 123581792 c.1805-9_1805-8insTTT splice site 0.00407558
11. 123581791 c.1805-8_1805-7delTT splice site 0.00142028
12. 123591015 c.1721-4A>G splice site 0.00123287
13. 123573548 c.1975+9G>A splice site 0.00038973
14. 123699007 c.1219+4A>G splice site 0.00030251
15. 123592339 c.1673-8T>C splice site 0.00018620
16. 123580811 c.1832-4C>A splice site 0.00014683
17. 123573588 c.1952-8C>T splice site 0.00012275
18. 123709704 c.1106-8T>C splice site 0.00011323
19. 123595776 c.1597+10G>T splice site 0.00010073
20. 123595819 c.1568-4T>A splice site 0.00009903
21. 123592334 c.1673-3C>G splice site 0.00009200
22. 123594101 c.1672+8G>T splice site 0.00008298
23. 123818335 c.853+3A>G splice site 0.00007061
24. 123573549 c.1975+8C>T splice site 0.00006513
25. 123851644 c.484+7delA splice site 0.00005301
26. 123851644 c.484+7A>C splice site 0.00005296
27. 123594474 c.1624+8T>C splice site 0.00005110
28. 123658818 c.1370-4G>A splice site 0.00005079
29. 123957891 c.22+8T>C splice site 0.00004999
30. 123837359 c.485-8C>A splice site 0.00004860
31. 123573585 c.1952-5T>C splice site 0.00004828
32. 123868522 c.392-5T>C splice site 0.00004683
33. 123576220 c.1951+6C>A splice site 0.00004588
34. 123594164 c.1625-8A>G splice site 0.00004474
35. 123581748 c.1831+9T>C splice site 0.00004456
36. 123696784 c.1247-8A>G splice site 0.00004402
37. 123573550 c.1975+7A>G splice site 0.00004320
38. 123653017 c.1471+7T>G splice site 0.00004285
39. 123702511 c.1186+4A>G splice site 0.00003756
40. 123818335 c.853+3A>T splice site 0.00003531
41. 123786043 c.931+8C>T splice site 0.00003403
42. 123539890 c.2051-5delC splice site 0.00002762
43. 123673675 c.1369+9A>G splice site 0.00002533
44. 123588849 c.1783+3A>G splice site 0.00002476
45. 123573553 c.1975+4delA splice site 0.00002163
46. 123786135 c.854-7T>C splice site 0.00002132
47. 123869596 c.391+3A>G splice site 0.00002029
48. 123759275 c.992-8A>G splice site 0.00001811
49. 123590986 c.1738+8A>G splice site 0.00001776
50. 123591017 c.1721-6C>T splice site 0.00001762
51. 123824858 c.793+6C>T splice site 0.00001690
52. 123892063 c.232+5G>C splice site 0.00001667
53. 123957895 c.22+4T>C splice site 0.00001666
54. 123759201 c.1051+7C>A splice site 0.00001453
55. 123699003 c.1219+8T>A splice site 0.00001419
56. 123542629 c.2050+3A>C splice site 0.00001332
57. 123542674 c.2015-7C>T splice site 0.00001326
58. 123542672 c.2015-5A>G splice site 0.00001313
59. 123595780 c.1597+6A>G splice site 0.00000911
60. 123595822 c.1568-7C>T splice site 0.00000903
61. 123591015 c.1721-4A>T splice site 0.00000881
62. 123591018 c.1721-7T>C splice site 0.00000880
63. 123687330 c.1274-3C>G splice site 0.00000852
64. 123637644 c.1472-4C>T splice site 0.00000839
65. 123545233 c.2014+5G>A splice site 0.00000836
66. 123545282 c.1976-6C>G splice site 0.00000835
67. 123892062 c.232+6T>G splice site 0.00000834
68. 123698890 c.1220-3C>T splice site 0.00000829
69. 123698894 c.1220-7G>C splice site 0.00000829

* 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.