FHL2 protein-altering variants in ExAC


The table below lists the FHL2 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. 105979742 c.688G>A p.G230R missense 0.00008307
2. 105979918 c.512C>T p.T171M missense 0.00006295
3. 105977841 c.739G>A p.D247N missense 0.00005767
4. 105984136 c.392G>A p.R131H missense 0.00004956
5. 106002865 c.109G>A p.A37T missense 0.00004948
6. 105979871 c.559G>A p.V187M missense 0.00003858
7. 105990062 c.285C>G p.N95K missense 0.00003297
8. 105977830 c.750C>G p.N250K missense 0.00003295
9. 105977798 c.782G>A p.R261H missense 0.00003295
10. 105979835 c.595C>T p.R199C missense 0.00002585
11. 105984190 c.338G>A p.R113H missense 0.00002510
12. 105984041 c.487G>A p.V163I missense 0.00002508
13. 106002832 c.142G>A p.G48S missense 0.00002483
14. 106002964 c.10C>A p.R4S missense 0.00002478
15. 106002964 c.10C>T p.R4C missense 0.00002478
16. 106002853 c.121G>A p.E41K missense 0.00002476
17. 105990172 c.175C>T p.R59W missense 0.00002475
18. 105977759 c.821A>G p.D274G missense 0.00002475
19. 105977760 c.820G>A p.D274N missense 0.00002475
20. 105990154 c.193T>C p.C65R missense 0.00002473
21. 105977855 c.725G>A p.R242Q missense 0.00002472
22. 105990112 c.235C>G p.P79A missense 0.00002472
23. 106002902 c.72G>C p.E24D missense 0.00002472
24. 105979909 c.521T>A p.V174D missense 0.00002356
25. 105979909 c.521T>C p.V174A missense 0.00002356
26. 105979901 c.529C>T p.R177W missense 0.00002235
27. 105984190 c.338G>T p.R113L missense 0.00001673
28. 106002819 c.155A>G p.K52R missense 0.00001662
29. 105984176 c.352A>C p.K118Q missense 0.00001659
30. 106002970 c.4A>G p.T2A missense 0.00001654
31. 105977891 c.689G>T p.G230V missense 0.00001651
32. 105984067 c.461A>G p.Y154C missense 0.00001650
33. 105977765 c.815G>A p.C272Y missense 0.00001649
34. 106002937 c.37T>A p.S13T missense 0.00001649
35. 106002918 c.56A>T p.Y19F missense 0.00001648
36. 106002910 c.64C>T p.R22W missense 0.00001648
37. 105990111 c.236C>G p.P79R missense 0.00001648
38. 105990066 c.281C>T p.S94F missense 0.00001648
39. 105977856 c.724C>T p.R242W missense 0.00001648
40. 106002912 c.62T>A p.L21Q missense 0.00001648
41. 105977775 c.805G>A p.D269N missense 0.00001648
42. 105979921 c.509C>T p.T170I missense 0.00001290
43. 105979898 c.532G>A p.E178K missense 0.00001094
44. 0 c.-146+1G>A essential splice site 0.00000875
45. 105979837 c.593A>G p.Q198R missense 0.00000866
46. 105984188 c.340A>G p.K114E missense 0.00000836
47. 106002816 c.156+2T>C essential splice site 0.00000832
48. 106002820 c.154A>G p.K52E missense 0.00000831
49. 105979798 c.632A>G p.N211S missense 0.00000830
50. 105979798 c.632A>T p.N211I missense 0.00000830
51. 105979786 c.644A>C p.D215A missense 0.00000829
52. 105984050 c.478A>G p.M160V missense 0.00000829
53. 105979789 c.641G>A p.C214Y missense 0.00000829
54. 105990014 c.331+2T>A essential splice site 0.00000829
55. 105979762 c.668G>T p.G223V missense 0.00000828
56. 105979775 c.655A>C p.K219Q missense 0.00000828
57. 106002832 c.142G>C p.G48R missense 0.00000828
58. 105984166 c.362G>A p.S121N missense 0.00000827
59. 105990190 c.157G>A p.D53N missense 0.00000827
60. 106002844 c.130G>A p.G44R missense 0.00000826
61. 106002846 c.128G>T p.C43F missense 0.00000826
62. 106002963 c.11G>A p.R4H missense 0.00000826
63. 105977756 c.824G>A p.C275Y missense 0.00000826
64. 105984137 c.391C>A p.R131S missense 0.00000826
65. 106002946 c.28T>C p.C10R missense 0.00000825
66. 106002852 c.122A>G p.E41G missense 0.00000825
67. 105990164 c.183G>T p.W61C missense 0.00000825
68. 105990043 c.304C>T p.Q102X nonsense 0.00000825
69. 105984154 c.374C>A p.T125N missense 0.00000825
70. 106002948 c.26A>G p.H9R missense 0.00000825
71. 106002858 c.116C>T p.T39I missense 0.00000825
72. 105990164 c.183G>A p.W61X nonsense 0.00000825
73. 105984155 c.373A>T p.T125S missense 0.00000825
74. 106002957 c.17A>G p.D6G missense 0.00000825
75. 106002861 c.113A>G p.N38S missense 0.00000825
76. 105990171 c.176G>A p.R59Q missense 0.00000825
77. 105977757 c.823T>C p.C275R missense 0.00000825
78. 105990072 c.275G>A p.C92Y missense 0.00000824
79. 105984122 c.406A>T p.I136F missense 0.00000824
80. 105977775 c.805G>C p.D269H missense 0.00000824
81. 105977820 c.760T>G p.C254G missense 0.00000824
82. 105990156 c.191C>G p.A64G missense 0.00000824
83. 105990114 c.233A>G p.K78R missense 0.00000824
84. 105977855 c.725G>C p.R242P missense 0.00000824
85. 105984124 c.404C>A p.P135Q missense 0.00000824
86. 106002919 c.55T>C p.Y19H missense 0.00000824
87. 105977824 c.756G>C p.K252N missense 0.00000824
88. 105977786 c.794C>T p.T265I missense 0.00000824
89. 106002893 c.81C>A p.Y27X nonsense 0.00000824
90. 105990111 c.236C>T p.P79L missense 0.00000824
91. 105990052 c.295T>A p.S99T missense 0.00000824
92. 105984098 c.430A>G p.K144E missense 0.00000824
93. 106002912 c.62T>G p.L21R missense 0.00000824
94. 105977802 c.778G>A p.G260R missense 0.00000824
95. 105990156 c.191C>T p.A64V missense 0.00000824
96. 106002939 c.35A>G p.E12G missense 0.00000824
97. 106002940 c.34G>A p.E12K missense 0.00000824

* 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.