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