TTR protein-altering variants in ExAC

TTR gene summary
TTR variants in HCM, DCM

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 frequency▼Populations*
1. 29171874 c.9_11dupTCA p.His4_Arg5insHis inframe 0.00001648●●●●●●
2. 29171874 c.9_11delTCA p.His4del inframe 0.00000824●●●●●●
3. 29171878 c.13C>T p.R5C missense 0.00000824●●●●●●
4. 29171888 c.23T>A p.L8H missense 0.00000824●●●●●●
5. 29171890 c.25C>T p.L9F missense 0.00000824●●●●●●
6. 29171902 c.37G>A p.G13R missense 0.00000824●●●●●●
7. 29171917 c.52T>G p.S18A missense 0.00000824●●●●●●
8. 29171933 c.68C>T p.T23M missense 0.00004119●●●●●●
9. 29172883 c.94_95insTGA p.Leu32_Met33insMet inframe 0.00000824●●●●●●
10. 29172887 c.98T>C p.M33T missense 0.00000824●●●●●●
11. 29172914 c.125G>A p.G42D missense 0.00000824●●●●●●
12. 29172925 c.136A>G p.I46V missense 0.00001647●●●●●●
13. 29172929 c.140A>G p.N47S missense 0.00001647●●●●●●
14. 29172941 c.152_153delAT p.His51ArgfsTer7 frameshift 0.00000824●●●●●●
15. 29172979 c.190T>C p.F64L missense 0.00005766●●●●●●
16. 29175090 c.208A>G p.S70G missense 0.00000831●●●●●●
17. 29175091 c.209G>A p.S70N missense 0.00003321●●●●●●
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. 29175144 c.262A>T p.I88L missense 0.00004122●●●●●●
23. 29175148 c.266A>G p.Y89C missense 0.00000824●●●●●●
24. 29175150 c.268A>C p.K90Q missense 0.00000824●●●●●●
25. 29175162 c.280G>C p.D94H missense 0.00002472●●●●●●
26. 29175183 c.301G>A p.A101T missense 0.00000824●●●●●●
27. 29175192 c.310A>C p.I104L missense 0.00000824●●●●●●
28. 29178549 c.355G>A p.D119N missense 0.00002478●●●●●●
29. 29178555 c.361G>A p.G121S missense 0.00001651●●●●●●
30. 29178561 c.367C>T p.R123C missense 0.00003298●●●●●●
31. 29178562 c.368G>A p.R123H missense 0.00004121●●●●●●
32. 29178564 c.370C>T p.R124C missense 0.00004121●●●●●●
33. 29178569 c.375C>A p.Y125X nonsense 0.00000824●●●●●●
34. 29178574 c.380T>C p.I127T missense 0.00000824●●●●●●
35. 29178579 c.385G>A p.A129T missense 0.00004943●●●●●●
36. 29178580 c.386C>T p.A129V missense 0.00000824●●●●●●
37. 29178600 c.406T>C p.Y136H missense 0.00000824●●●●●●
38. 29178603 c.409T>A p.S137T missense 0.00000824●●●●●●
39. 29178625 c.431A>G p.N144S missense 0.00002472●●●●●●
40. 29178633 c.439G>T p.E147X nonsense 0.00000825●●●●●●
41. 29178635 c.441A>T p.E147D missense 0.00001649●●●●●●

* 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.