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

* 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.