TTR protein-altering variants in ExAC


The table below lists the TTR 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. 29172979 c.190T>C p.F64L missense 0.00005766
2. 29178579 c.385G>A p.A129T missense 0.00004943
3. 29175144 c.262A>T p.I88L missense 0.00004122
4. 29178564 c.370C>T p.R124C missense 0.00004121
5. 29178562 c.368G>A p.R123H missense 0.00004121
6. 29171933 c.68C>T p.T23M missense 0.00004119
7. 29175091 c.209G>A p.S70N missense 0.00003321
8. 29178561 c.367C>T p.R123C missense 0.00003298
9. 29178549 c.355G>A p.D119N missense 0.00002478
10. 29178625 c.431A>G p.N144S missense 0.00002472
11. 29175162 c.280G>C p.D94H missense 0.00002472
12. 29178555 c.361G>A p.G121S missense 0.00001651
13. 29178635 c.441A>T p.E147D missense 0.00001649
14. 29171874 c.9_11dupTCA p.His4_Arg5insHis inframe 0.00001648
15. 29172929 c.140A>G p.N47S missense 0.00001647
16. 29172925 c.136A>G p.I46V missense 0.00001647
17. 29175090 c.208A>G p.S70G missense 0.00000831
18. 29175097 c.215C>A p.S72Y missense 0.00000829
19. 29175108 c.226C>T p.H76Y missense 0.00000827
20. 29175117 c.235A>G p.T79A missense 0.00000826
21. 29175128 c.246G>C p.E82D missense 0.00000825
22. 29178633 c.439G>T p.E147X nonsense 0.00000825
23. 29178600 c.406T>C p.Y136H missense 0.00000824
24. 29175148 c.266A>G p.Y89C missense 0.00000824
25. 29178580 c.386C>T p.A129V missense 0.00000824
26. 29172887 c.98T>C p.M33T missense 0.00000824
27. 29171878 c.13C>T p.R5C missense 0.00000824
28. 29178603 c.409T>A p.S137T missense 0.00000824
29. 29171874 c.9_11delTCA p.His4del inframe 0.00000824
30. 29175150 c.268A>C p.K90Q missense 0.00000824
31. 29171890 c.25C>T p.L9F missense 0.00000824
32. 29178569 c.375C>A p.Y125X nonsense 0.00000824
33. 29172914 c.125G>A p.G42D missense 0.00000824
34. 29175183 c.301G>A p.A101T missense 0.00000824
35. 29172883 c.94_95insTGA p.Leu32_Met33insMet inframe 0.00000824
36. 29171902 c.37G>A p.G13R missense 0.00000824
37. 29178574 c.380T>C p.I127T missense 0.00000824
38. 29172941 c.152_153delAT p.His51ArgfsTer7 frameshift 0.00000824
39. 29175192 c.310A>C p.I104L missense 0.00000824
40. 29171917 c.52T>G p.S18A missense 0.00000824
41. 29171888 c.23T>A p.L8H 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.