TTR variants in ExAC

TTR gene summary
TTR variants in HCM, DCM

The table below lists the TTR 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. 29172937 c.148G>A p.V50M missense 0.00014827●●●●●●
2. 29172979 c.190T>C p.F64L missense 0.00005766●●●●●●
3. 29175144 c.262A>T p.I88L missense 0.00004122●●●●●●
4. 29175183 c.301G>A p.A101T missense 0.00000824●●●●●●
5. 29175210 c.328C>A p.H110N missense 0.00065937●●●●●●
6. 29178565 c.371G>A p.R124H missense 0.00065108●●●●●●
7. 29178579 c.385G>A p.A129T missense 0.00004943●●●●●●
8. 29178580 c.386C>T p.A129V missense 0.00000824●●●●●●
9. 29178610 c.416C>T p.T139M missense 0.00147476●●●●●●
10. 29178618 c.424G>A p.V142I missense 0.00137607●●●●●●
11. 29178625 c.431A>G p.N144S missense 0.00002472●●●●●●
12. 29172865 c.76G>A p.G26S missense 0.04953048●●●●●●
13. 29175108 c.226C>T p.H76Y missense 0.00000827●●●●●●
14. 29178549 c.355G>A p.D119N missense 0.00002478●●●●●●
15. 29171878 c.13C>T p.R5C missense 0.00000824●●●●●●
16. 29171879 c.14G>A p.R5H missense 0.00010708●●●●●●
17. 29172929 c.140A>G p.N47S missense 0.00001647●●●●●●
18. 29178562 c.368G>A p.R123H missense 0.00004121●●●●●●
19. 29175091 c.209G>A p.S70N missense 0.00003321●●●●●●
20. 29171933 c.68C>T p.T23M missense 0.00004119●●●●●●
21. 29178561 c.367C>T p.R123C missense 0.00003298●●●●●●
22. 29178564 c.370C>T p.R124C missense 0.00004121●●●●●●
23. 29175097 c.215C>A p.S72Y missense 0.00000829●●●●●●
24. 29178631 c.437A>G p.K146R missense 0.00039569●●●●●●
25. 29178635 c.441A>T p.E147D missense 0.00001649●●●●●●
26. 29171888 c.23T>A p.L8H missense 0.00000824●●●●●●
27. 29171890 c.25C>T p.L9F missense 0.00000824●●●●●●
28. 29171902 c.37G>A p.G13R missense 0.00000824●●●●●●
29. 29171917 c.52T>G p.S18A missense 0.00000824●●●●●●
30. 29172887 c.98T>C p.M33T missense 0.00000824●●●●●●
31. 29172914 c.125G>A p.G42D missense 0.00000824●●●●●●
32. 29172925 c.136A>G p.I46V missense 0.00001647●●●●●●
33. 29175090 c.208A>G p.S70G missense 0.00000831●●●●●●
34. 29175117 c.235A>G p.T79A missense 0.00000826●●●●●●
35. 29175128 c.246G>C p.E82D missense 0.00000825●●●●●●
36. 29175148 c.266A>G p.Y89C missense 0.00000824●●●●●●
37. 29175150 c.268A>C p.K90Q missense 0.00000824●●●●●●
38. 29175162 c.280G>C p.D94H missense 0.00002472●●●●●●
39. 29175192 c.310A>C p.I104L missense 0.00000824●●●●●●
40. 29178555 c.361G>A p.G121S missense 0.00001651●●●●●●
41. 29178574 c.380T>C p.I127T missense 0.00000824●●●●●●
42. 29178600 c.406T>C p.Y136H missense 0.00000824●●●●●●
43. 29178603 c.409T>A p.S137T missense 0.00000824●●●●●●
44. 29178569 c.375C>A p.Y125X nonsense 0.00000824●●●●●●
45. 29178633 c.439G>T p.E147X nonsense 0.00000825●●●●●●
46. 29171934 c.69G>A splice site 0.00000824●●●●●●
47. 29171940 c.69+6T>C splice site 0.00002471●●●●●●
48. 29172852 c.70-7C>T splice site 0.00019770●●●●●●
49. 29172854 c.70-5C>A splice site 0.00000824●●●●●●
50. 29172855 c.70-4C>T splice site 0.00001647●●●●●●
51. 29172993 c.200+4A>G splice site 0.00002471●●●●●●
52. 29172997 c.200+8G>T splice site 0.00000824●●●●●●
53. 29175076 c.201-7C>T splice site 0.00000839●●●●●●
54. 29175079 c.201-4A>G splice site 0.00003347●●●●●●
55. 29175218 c.336G>A splice site 0.00000825●●●●●●
56. 29178528 c.337-3T>C splice site 0.00001655●●●●●●
57. 29172941 c.152_153delAT p.His51ArgfsTer7 frameshift 0.00000824●●●●●●
58. 29171874 c.9_11dupTCA p.His4_Arg5insHis inframe 0.00001648●●●●●●
59. 29171874 c.9_11delTCA p.His4del inframe 0.00000824●●●●●●
60. 29172883 c.94_95insTGA p.Leu32_Met33insMet inframe 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.