TPM1 variants in ExAC


The table below lists the TPM1 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. 63351759 c.375-3C>T splice site 0.00181288
2. 63353901 c.564-11G>A splice site 0.00052790
3. 63356335 c.845C>G p.T282S missense 0.00034195
4. 0 c.639+12delG splice site 0.00032765
5. 63351757 c.375-5T>C splice site 0.00027194
6. 63356347 c.851+6C>T splice site 0.00026633
7. 63356264 c.774C>T splice site 0.00005879
8. 63356347 c.851+6C>A splice site 0.00004756
9. 63356287 c.797A>G p.K266R missense 0.00004200
10. 63358091 c.852-4G>A splice site 0.00004183
11. 63353145 c.563+7G>A splice site 0.00004156
12. 63356319 c.829G>A p.A277T missense 0.00003461
13. 63358088 c.852-7C>G splice site 0.00003138
14. 63335120 c.92C>A p.A31E missense 0.00002885
15. 63356348 c.851+7G>A splice site 0.00002858
16. 63356331 c.841A>G p.M281V missense 0.00002681
17. 63353907 c.564-5A>G splice site 0.00002474
18. 63335149 c.114+7G>A splice site 0.00002223
19. 63335146 c.114+4T>C splice site 0.00002001
20. 63356328 c.838G>A p.D280N missense 0.00001763
21. 63356304 c.814G>A p.E272K missense 0.00001696
22. 63356274 c.784G>A p.A262T missense 0.00001678
23. 63353061 c.493-7G>A splice site 0.00001648
24. 63349324 c.374+7A>G splice site 0.00001648
25. 63349245 c.302G>A p.R101H missense 0.00001647
26. 63349257 c.314G>A p.R105H missense 0.00001647
27. 63358095 c.852A>T splice site 0.00001042
28. 63335090 c.62G>T p.R21L missense 0.00001004
29. 63356344 c.851+3A>G splice site 0.00000935
30. 63356341 c.851T>C p.I284T missense 0.00000924
31. 63336221 c.115-5C>G splice site 0.00000914
32. 63336222 c.115-4C>T splice site 0.00000910
33. 63336223 c.115-3C>T splice site 0.00000906
34. 63335029 c.1A>G p.M1V missense 0.00000892
35. 63336228 c.117delG p.E40Kfs*406 frameshift 0.00000889
36. 63356258 c.773-5C>T splice site 0.00000840
37. 63356257 c.773-6T>A splice site 0.00000840
38. 63356265 c.775G>A p.E259K missense 0.00000840
39. 63353991 c.639+4G>A splice site 0.00000833
40. 63336266 c.155G>T p.G52V missense 0.00000833
41. 63353144 c.563+6C>T splice site 0.00000831
42. 63353144 c.563+6C>A splice site 0.00000831
43. 63353983 c.635A>T p.E212V missense 0.00000829
44. 63353977 c.629A>C p.Q210P missense 0.00000827
45. 63351887 c.492+8C>T splice site 0.00000826
46. 63354418 c.644C>T p.S215L missense 0.00000825
47. 63351846 c.459C>A p.H153Q missense 0.00000825
48. 63354483 c.702+7T>A splice site 0.00000825
49. 63353908 c.564-4T>A splice site 0.00000825
50. 63353089 c.514A>C p.I172L missense 0.00000824
51. 63351797 c.410A>G p.D137G missense 0.00000824
52. 63349244 c.301C>G p.R101G missense 0.00000824
53. 63349195 c.252C>G p.D84E missense 0.00000824
54. 63354433 c.659G>A p.R220K missense 0.00000824
55. 63349266 c.323C>T p.T108I missense 0.00000824
56. 63353066 c.493-2A>G essential splice site 0.00000824
57. 63353920 c.572C>T p.A191V missense 0.00000824
58. 63349196 c.253G>A p.V85I missense 0.00000824
59. 63349244 c.301C>T p.R101C missense 0.00000824
60. 63354812 c.740C>A p.T247N missense 0.00000824
61. 63349297 c.354G>T p.K118N missense 0.00000824
62. 63349200 c.257C>G p.A86G missense 0.00000824
63. 63349176 c.241-8C>T splice site 0.00000824
64. 63353107 c.532C>T p.R178C missense 0.00000824
65. 63353086 c.511A>G p.I171V missense 0.00000824
66. 63353090 c.515T>C p.I172T missense 0.00000824
67. 63349298 c.355G>A p.A119T missense 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.