TTR non-truncating variants in ExAC

TTR gene summary
TTR variants in HCM, DCM

The table below lists the TTR non-truncating 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. 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. 29178562 c.368G>A p.R123H missense 0.00004121●●●●●●
5. 29178564 c.370C>T p.R124C 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. 29172887 c.98T>C p.M33T missense 0.00000824●●●●●●
23. 29171878 c.13C>T p.R5C missense 0.00000824●●●●●●
24. 29175150 c.268A>C p.K90Q missense 0.00000824●●●●●●
25. 29171890 c.25C>T p.L9F missense 0.00000824●●●●●●
26. 29178574 c.380T>C p.I127T missense 0.00000824●●●●●●
27. 29172914 c.125G>A p.G42D missense 0.00000824●●●●●●
28. 29175183 c.301G>A p.A101T missense 0.00000824●●●●●●
29. 29171902 c.37G>A p.G13R missense 0.00000824●●●●●●
30. 29178600 c.406T>C p.Y136H missense 0.00000824●●●●●●
31. 29171874 c.9_11delTCA p.His4del inframe 0.00000824●●●●●●
32. 29175192 c.310A>C p.I104L missense 0.00000824●●●●●●
33. 29171917 c.52T>G p.S18A missense 0.00000824●●●●●●
34. 29171888 c.23T>A p.L8H missense 0.00000824●●●●●●
35. 29172883 c.94_95insTGA p.Leu32_Met33insMet inframe 0.00000824●●●●●●
36. 29178603 c.409T>A p.S137T missense 0.00000824●●●●●●
37. 29175148 c.266A>G p.Y89C missense 0.00000824●●●●●●
38. 29178580 c.386C>T p.A129V 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.