TPM1 protein-altering variants in ExAC


The table below lists the TPM1 protein-altering variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. 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. 63356287 c.797A>G p.K266R missense 0.00004200
2. 63356319 c.829G>A p.A277T missense 0.00003461
3. 63335120 c.92C>A p.A31E missense 0.00002885
4. 63356331 c.841A>G p.M281V missense 0.00002681
5. 63356328 c.838G>A p.D280N missense 0.00001763
6. 63356304 c.814G>A p.E272K missense 0.00001696
7. 63356274 c.784G>A p.A262T missense 0.00001678
8. 63349245 c.302G>A p.R101H missense 0.00001647
9. 63349257 c.314G>A p.R105H missense 0.00001647
10. 63335090 c.62G>T p.R21L missense 0.00001004
11. 63356341 c.851T>C p.I284T missense 0.00000924
12. 63335029 c.1A>G p.M1V missense 0.00000892
13. 63336228 c.117delG p.E40Kfs*406 frameshift 0.00000889
14. 63356265 c.775G>A p.E259K missense 0.00000840
15. 63336266 c.155G>T p.G52V missense 0.00000833
16. 63353983 c.635A>T p.E212V missense 0.00000829
17. 63353977 c.629A>C p.Q210P missense 0.00000827
18. 63351846 c.459C>A p.H153Q missense 0.00000825
19. 63354418 c.644C>T p.S215L missense 0.00000825
20. 63349244 c.301C>G p.R101G missense 0.00000824
21. 63353090 c.515T>C p.I172T missense 0.00000824
22. 63353920 c.572C>T p.A191V missense 0.00000824
23. 63349266 c.323C>T p.T108I missense 0.00000824
24. 63349195 c.252C>G p.D84E missense 0.00000824
25. 63353107 c.532C>T p.R178C missense 0.00000824
26. 63354812 c.740C>A p.T247N missense 0.00000824
27. 63349244 c.301C>T p.R101C missense 0.00000824
28. 63349297 c.354G>T p.K118N missense 0.00000824
29. 63349196 c.253G>A p.V85I missense 0.00000824
30. 63353086 c.511A>G p.I171V missense 0.00000824
31. 63349298 c.355G>A p.A119T missense 0.00000824
32. 63349200 c.257C>G p.A86G missense 0.00000824
33. 63353089 c.514A>C p.I172L missense 0.00000824
34. 63353066 c.493-2A>G essential splice site 0.00000824
35. 63354433 c.659G>A p.R220K missense 0.00000824
36. 63351797 c.410A>G p.D137G 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.