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