FHL1 protein-altering variants in ExAC


The table below lists the FHL1 protein-altering variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. 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 frequencyPopulations*
1. 135288596 c.5C>T p.A2V missense 0.00002279
2. 135289223 c.205G>A p.A69T missense 0.00001144
3. 135289980 c.361G>A p.V121I missense 0.00007997
4. 135290028 c.409G>A p.G137R missense 0.00001141
5. 135292110 c.769G>A p.V257M missense 0.00002279
6. 135288737 c.146C>T p.A49V missense 0.00002280
7. 135289962 c.343G>T p.V115L missense 0.00002292
8. 135289248 c.230A>G p.N77S missense 0.00003434
9. 135289290 c.272A>G p.K91R missense 0.00001154
10. 135290668 c.556T>C p.F186L missense 0.00001139
11. 135288609 c.18C>G p.D6E missense 0.00001140
12. 135288661 c.70G>A p.G24S missense 0.00001139
13. 135288712 c.121G>A p.V41M missense 0.00001140
14. 135288727 c.136C>T p.P46S missense 0.00001140
15. 135289185 c.167A>G p.Y56C missense 0.00001147
16. 135289209 c.191C>T p.T64I missense 0.00001144
17. 135289218 c.200G>A p.R67H missense 0.00001144
18. 135289272 c.254A>G p.N85S missense 0.00001147
19. 135289310 c.292T>A p.S98T missense 0.00003508
20. 135289311 c.293C>A p.S98Y missense 0.00001171
21. 135289317 c.299A>C p.K100T missense 0.00001174
22. 135289325 c.307G>T p.G103W missense 0.00001180
23. 135289335 c.317A>G p.K106R missense 0.00001188
24. 135289337 c.319G>A p.A107T missense 0.00001190
25. 135289341 c.323T>C p.I108T missense 0.00001195
26. 135289962 c.343G>A p.V115M missense 0.00004585
27. 135289971 c.352A>G p.K118E missense 0.00004576
28. 135289974 c.355G>T p.G119W missense 0.00001143
29. 135290019 c.400C>G p.Q134E missense 0.00001141
30. 135290035 c.416G>A p.G139E missense 0.00001141
31. 135290037 c.418A>C p.S140R missense 0.00001141
32. 135290086 c.467C>T p.T156I missense 0.00001142
33. 135290086 c.467C>A p.T156N missense 0.00001142
34. 135290119 c.500A>G p.K167R missense 0.00001146
35. 135290615 c.503C>T p.A168V missense 0.00001140
36. 135290768 c.656A>T p.K219M missense 0.00002279
37. 135290773 c.661T>C p.C221R missense 0.00001140
38. 135290792 c.680C>A p.P227H missense 0.00002280
39. 135292080 c.739G>A p.D247N missense 0.00002279
40. 135292110 c.769G>C p.V257L missense 0.00002279
41. 135292119 c.778G>A p.A260T missense 0.00001139
42. 135292125 c.784A>G p.K262E missense 0.00002279
43. 135292149 c.808C>G p.Q270E missense 0.00002279
44. 135292152 c.811G>C p.V271L missense 0.00001139
45. 135292153 c.812T>C p.V271A missense 0.00001139
46. 135292156 c.815A>T p.Y272F missense 0.00003418

* 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.