FHL1 variants in ExAC

FHL1 gene summary
FHL1 variants in

The table below lists the FHL1 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. 135292022 c.689-8C>T splice site 0.49447772●●●●●●
2. 135292164 c.823G>A p.D275N missense 0.01128128●●●●●●
3. 0 c.689-13T>C splice site 0.01062853●●●●●●
4. 135292022 c.689-8delC splice site 0.00590171●●●●●●
5. 135288752 c.156+5C>T splice site 0.00188129●●●●●●
6. 135288561 c.-26-5C>T splice site 0.00177946●●●●●●
7. 135289301 c.283C>T p.R95W missense 0.00052359●●●●●●
8. 135290716 c.604G>A p.A202T missense 0.00034182●●●●●●
9. 135292021 c.689-9T>C splice site 0.00012610●●●●●●
10. 135292102 c.761A>G p.K254R missense 0.00011394●●●●●●
11. 135289980 c.361G>A p.V121I missense 0.00007997●●●●●●
12. 135292025 c.689-5C>A splice site 0.00005747●●●●●●
13. 135292019 c.689-11_689-8delTTTC splice site 0.00004754●●●●●●
14. 135289962 c.343G>A p.V115M missense 0.00004585●●●●●●
15. 135289971 c.352A>G p.K118E missense 0.00004576●●●●●●
16. 135289310 c.292T>A p.S98T missense 0.00003508●●●●●●
17. 135289248 c.230A>G p.N77S missense 0.00003434●●●●●●
18. 135292156 c.815A>T p.Y272F missense 0.00003418●●●●●●
19. 135292022 c.689-8_689-7insC splice site 0.00002522●●●●●●
20. 135289962 c.343G>T p.V115L missense 0.00002292●●●●●●
21. 135290808 c.688+8A>G splice site 0.00002281●●●●●●
22. 135290792 c.680C>A p.P227H missense 0.00002280●●●●●●
23. 135288753 c.156+6G>A splice site 0.00002280●●●●●●
24. 135288737 c.146C>T p.A49V missense 0.00002280●●●●●●
25. 135288596 c.5C>T p.A2V missense 0.00002279●●●●●●
26. 135292125 c.784A>G p.K262E missense 0.00002279●●●●●●
27. 135292080 c.739G>A p.D247N missense 0.00002279●●●●●●
28. 135292149 c.808C>G p.Q270E missense 0.00002279●●●●●●
29. 135290768 c.656A>T p.K219M missense 0.00002279●●●●●●
30. 135292110 c.769G>C p.V257L missense 0.00002279●●●●●●
31. 135292110 c.769G>A p.V257M missense 0.00002279●●●●●●
32. 135289353 c.331+4C>T splice site 0.00001209●●●●●●
33. 135289341 c.323T>C p.I108T missense 0.00001195●●●●●●
34. 135289337 c.319G>A p.A107T missense 0.00001190●●●●●●
35. 135289335 c.317A>G p.K106R missense 0.00001188●●●●●●
36. 135289325 c.307G>T p.G103W missense 0.00001180●●●●●●
37. 0 c.689-13_689-8delTTTTTCinsTTTTCTTTTC splice site 0.00001177●●●●●●
38. 0 c.689-12_689-8delTTTTC splice site 0.00001177●●●●●●
39. 135289317 c.299A>C p.K100T missense 0.00001174●●●●●●
40. 135289311 c.293C>A p.S98Y missense 0.00001171●●●●●●
41. 135289943 c.332-8C>T splice site 0.00001160●●●●●●
42. 135289944 c.332-7T>C splice site 0.00001158●●●●●●
43. 135289290 c.272A>G p.K91R missense 0.00001154●●●●●●
44. 135290127 c.501+7T>G splice site 0.00001148●●●●●●
45. 135292027 c.689-3_689-2insA splice site 0.00001148●●●●●●
46. 135290125 c.501+5G>A splice site 0.00001148●●●●●●
47. 135289272 c.254A>G p.N85S missense 0.00001147●●●●●●
48. 135289185 c.167A>G p.Y56C missense 0.00001147●●●●●●
49. 135290119 c.500A>G p.K167R missense 0.00001146●●●●●●
50. 135292031 c.690G>A splice site 0.00001145●●●●●●
51. 135289209 c.191C>T p.T64I missense 0.00001144●●●●●●
52. 135289218 c.200G>A p.R67H missense 0.00001144●●●●●●
53. 135289223 c.205G>A p.A69T missense 0.00001144●●●●●●
54. 135289974 c.355G>T p.G119W missense 0.00001143●●●●●●
55. 135290086 c.467C>A p.T156N missense 0.00001142●●●●●●
56. 135290086 c.467C>T p.T156I missense 0.00001142●●●●●●
57. 135290019 c.400C>G p.Q134E missense 0.00001141●●●●●●
58. 135290028 c.409G>A p.G137R missense 0.00001141●●●●●●
59. 135290035 c.416G>A p.G139E missense 0.00001141●●●●●●
60. 135290037 c.418A>C p.S140R missense 0.00001141●●●●●●
61. 135288712 c.121G>A p.V41M missense 0.00001140●●●●●●
62. 135290804 c.688+4G>T splice site 0.00001140●●●●●●
63. 135288727 c.136C>T p.P46S missense 0.00001140●●●●●●
64. 135290807 c.688+7T>C splice site 0.00001140●●●●●●
65. 135288609 c.18C>G p.D6E missense 0.00001140●●●●●●
66. 135290615 c.503C>T p.A168V missense 0.00001140●●●●●●
67. 135290773 c.661T>C p.C221R missense 0.00001140●●●●●●
68. 135288661 c.70G>A p.G24S missense 0.00001139●●●●●●
69. 135292153 c.812T>C p.V271A missense 0.00001139●●●●●●
70. 135290668 c.556T>C p.F186L missense 0.00001139●●●●●●
71. 135292152 c.811G>C p.V271L missense 0.00001139●●●●●●
72. 135292119 c.778G>A p.A260T missense 0.00001139●●●●●●

* 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.