TPM1 variants in ExAC

TPM1 gene summary
TPM1 variants in DCM, HCM

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 frequency▼Populations*
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. 63349324 c.374+7A>G splice site 0.00001648●●●●●●
24. 63353061 c.493-7G>A splice site 0.00001648●●●●●●
25. 63349257 c.314G>A p.R105H missense 0.00001647●●●●●●
26. 63349245 c.302G>A p.R101H 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. 63356265 c.775G>A p.E259K missense 0.00000840●●●●●●
38. 63356257 c.773-6T>A splice site 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. 63354483 c.702+7T>A splice site 0.00000825●●●●●●
47. 63354418 c.644C>T p.S215L missense 0.00000825●●●●●●
48. 63353908 c.564-4T>A splice site 0.00000825●●●●●●
49. 63351846 c.459C>A p.H153Q missense 0.00000825●●●●●●
50. 63349297 c.354G>T p.K118N missense 0.00000824●●●●●●
51. 63353090 c.515T>C p.I172T missense 0.00000824●●●●●●
52. 63353107 c.532C>T p.R178C missense 0.00000824●●●●●●
53. 63349195 c.252C>G p.D84E missense 0.00000824●●●●●●
54. 63349196 c.253G>A p.V85I missense 0.00000824●●●●●●
55. 63349200 c.257C>G p.A86G missense 0.00000824●●●●●●
56. 63349244 c.301C>G p.R101G missense 0.00000824●●●●●●
57. 63349244 c.301C>T p.R101C missense 0.00000824●●●●●●
58. 63349266 c.323C>T p.T108I missense 0.00000824●●●●●●
59. 63354812 c.740C>A p.T247N missense 0.00000824●●●●●●
60. 63349298 c.355G>A p.A119T missense 0.00000824●●●●●●
61. 63351797 c.410A>G p.D137G missense 0.00000824●●●●●●
62. 63349176 c.241-8C>T splice site 0.00000824●●●●●●
63. 63353086 c.511A>G p.I171V missense 0.00000824●●●●●●
64. 63353089 c.514A>C p.I172L missense 0.00000824●●●●●●
65. 63353920 c.572C>T p.A191V missense 0.00000824●●●●●●
66. 63354433 c.659G>A p.R220K missense 0.00000824●●●●●●
67. 63353066 c.493-2A>G essential 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.