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

* 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.