FHL1 missense variants in ExAC

FHL1 gene summary
FHL1 variants in

The table below lists the FHL1 missense 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. 135292164 c.823G>A p.D275N missense 0.01128128●●●●●●
2. 135289301 c.283C>T p.R95W missense 0.00052359●●●●●●
3. 135290716 c.604G>A p.A202T missense 0.00034182●●●●●●
4. 135292102 c.761A>G p.K254R missense 0.00011394●●●●●●
5. 135289980 c.361G>A p.V121I missense 0.00007997●●●●●●
6. 135289962 c.343G>A p.V115M missense 0.00004585●●●●●●
7. 135289971 c.352A>G p.K118E missense 0.00004576●●●●●●
8. 135289310 c.292T>A p.S98T missense 0.00003508●●●●●●
9. 135289248 c.230A>G p.N77S missense 0.00003434●●●●●●
10. 135292156 c.815A>T p.Y272F missense 0.00003418●●●●●●
11. 135289962 c.343G>T p.V115L missense 0.00002292●●●●●●
12. 135288737 c.146C>T p.A49V missense 0.00002280●●●●●●
13. 135290792 c.680C>A p.P227H missense 0.00002280●●●●●●
14. 135288596 c.5C>T p.A2V missense 0.00002279●●●●●●
15. 135292110 c.769G>A p.V257M missense 0.00002279●●●●●●
16. 135292125 c.784A>G p.K262E missense 0.00002279●●●●●●
17. 135292080 c.739G>A p.D247N missense 0.00002279●●●●●●
18. 135290768 c.656A>T p.K219M missense 0.00002279●●●●●●
19. 135292149 c.808C>G p.Q270E missense 0.00002279●●●●●●
20. 135292110 c.769G>C p.V257L missense 0.00002279●●●●●●
21. 135289341 c.323T>C p.I108T missense 0.00001195●●●●●●
22. 135289337 c.319G>A p.A107T missense 0.00001190●●●●●●
23. 135289335 c.317A>G p.K106R missense 0.00001188●●●●●●
24. 135289325 c.307G>T p.G103W missense 0.00001180●●●●●●
25. 135289317 c.299A>C p.K100T missense 0.00001174●●●●●●
26. 135289311 c.293C>A p.S98Y missense 0.00001171●●●●●●
27. 135289290 c.272A>G p.K91R missense 0.00001154●●●●●●
28. 135289272 c.254A>G p.N85S missense 0.00001147●●●●●●
29. 135289185 c.167A>G p.Y56C missense 0.00001147●●●●●●
30. 135290119 c.500A>G p.K167R missense 0.00001146●●●●●●
31. 135289209 c.191C>T p.T64I missense 0.00001144●●●●●●
32. 135289223 c.205G>A p.A69T missense 0.00001144●●●●●●
33. 135289218 c.200G>A p.R67H missense 0.00001144●●●●●●
34. 135289974 c.355G>T p.G119W missense 0.00001143●●●●●●
35. 135290086 c.467C>A p.T156N missense 0.00001142●●●●●●
36. 135290086 c.467C>T p.T156I missense 0.00001142●●●●●●
37. 135290019 c.400C>G p.Q134E missense 0.00001141●●●●●●
38. 135290035 c.416G>A p.G139E missense 0.00001141●●●●●●
39. 135290037 c.418A>C p.S140R missense 0.00001141●●●●●●
40. 135290028 c.409G>A p.G137R missense 0.00001141●●●●●●
41. 135288712 c.121G>A p.V41M missense 0.00001140●●●●●●
42. 135288727 c.136C>T p.P46S missense 0.00001140●●●●●●
43. 135288609 c.18C>G p.D6E missense 0.00001140●●●●●●
44. 135290773 c.661T>C p.C221R missense 0.00001140●●●●●●
45. 135290615 c.503C>T p.A168V missense 0.00001140●●●●●●
46. 135290668 c.556T>C p.F186L missense 0.00001139●●●●●●
47. 135292153 c.812T>C p.V271A missense 0.00001139●●●●●●
48. 135292152 c.811G>C p.V271L missense 0.00001139●●●●●●
49. 135292119 c.778G>A p.A260T missense 0.00001139●●●●●●
50. 135288661 c.70G>A p.G24S 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.