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. 29178564 c.370C>T p.R124C missense 0.00004121●●●●●●
14. 29178562 c.368G>A p.R123H 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. 29175162 c.280G>C p.D94H missense 0.00002472●●●●●●
21. 29178625 c.431A>G p.N144S 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. 29172925 c.136A>G p.I46V missense 0.00001647●●●●●●
29. 29172929 c.140A>G p.N47S missense 0.00001647●●●●●●
30. 29172855 c.70-4C>T splice site 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. 29178633 c.439G>T p.E147X nonsense 0.00000825●●●●●●
37. 29175128 c.246G>C p.E82D missense 0.00000825●●●●●●
38. 29175218 c.336G>A splice site 0.00000825●●●●●●
39. 29172883 c.94_95insTGA p.Leu32_Met33insMet inframe 0.00000824●●●●●●
40. 29171902 c.37G>A p.G13R missense 0.00000824●●●●●●
41. 29171878 c.13C>T p.R5C missense 0.00000824●●●●●●
42. 29178574 c.380T>C p.I127T missense 0.00000824●●●●●●
43. 29172941 c.152_153delAT p.His51ArgfsTer7 frameshift 0.00000824●●●●●●
44. 29175148 c.266A>G p.Y89C missense 0.00000824●●●●●●
45. 29175192 c.310A>C p.I104L missense 0.00000824●●●●●●
46. 29171917 c.52T>G p.S18A missense 0.00000824●●●●●●
47. 29171888 c.23T>A p.L8H missense 0.00000824●●●●●●
48. 29172854 c.70-5C>A splice site 0.00000824●●●●●●
49. 29172997 c.200+8G>T splice site 0.00000824●●●●●●
50. 29178600 c.406T>C p.Y136H missense 0.00000824●●●●●●
51. 29171934 c.69G>A splice site 0.00000824●●●●●●
52. 29171890 c.25C>T p.L9F missense 0.00000824●●●●●●
53. 29172887 c.98T>C p.M33T missense 0.00000824●●●●●●
54. 29178603 c.409T>A p.S137T missense 0.00000824●●●●●●
55. 29171874 c.9_11delTCA p.His4del inframe 0.00000824●●●●●●
56. 29175150 c.268A>C p.K90Q missense 0.00000824●●●●●●
57. 29175183 c.301G>A p.A101T missense 0.00000824●●●●●●
58. 29178569 c.375C>A p.Y125X nonsense 0.00000824●●●●●●
59. 29172914 c.125G>A p.G42D missense 0.00000824●●●●●●
60. 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.