FHL2 missense variants in ExAC

FHL2 gene summary
FHL2 variants in DCM

The table below lists the FHL2 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. 105979900 c.530G>A p.R177Q missense 0.00538927●●●●●●
2. 106002889 c.85G>A p.V29M missense 0.00107966●●●●●●
3. 106002865 c.109G>T p.A37S missense 0.00058551●●●●●●
4. 105984191 c.337C>T p.R113C missense 0.00038489●●●●●●
5. 105979871 c.559G>T p.V187L missense 0.00023145●●●●●●
6. 105979907 c.523A>C p.T175P missense 0.00018435●●●●●●
7. 105984126 c.402G>C p.Q134H missense 0.00013183●●●●●●
8. 105990139 c.208C>G p.Q70E missense 0.00012360●●●●●●
9. 105979742 c.688G>A p.G230R missense 0.00008307●●●●●●
10. 105979918 c.512C>T p.T171M missense 0.00006295●●●●●●
11. 105977841 c.739G>A p.D247N missense 0.00005767●●●●●●
12. 105984136 c.392G>A p.R131H missense 0.00004956●●●●●●
13. 106002865 c.109G>A p.A37T missense 0.00004948●●●●●●
14. 105979871 c.559G>A p.V187M missense 0.00003858●●●●●●
15. 105990062 c.285C>G p.N95K missense 0.00003297●●●●●●
16. 105977830 c.750C>G p.N250K missense 0.00003295●●●●●●
17. 105977798 c.782G>A p.R261H missense 0.00003295●●●●●●
18. 105979835 c.595C>T p.R199C missense 0.00002585●●●●●●
19. 105984190 c.338G>A p.R113H missense 0.00002510●●●●●●
20. 105984041 c.487G>A p.V163I missense 0.00002508●●●●●●
21. 106002832 c.142G>A p.G48S missense 0.00002483●●●●●●
22. 106002964 c.10C>A p.R4S missense 0.00002478●●●●●●
23. 106002964 c.10C>T p.R4C missense 0.00002478●●●●●●
24. 106002853 c.121G>A p.E41K missense 0.00002476●●●●●●
25. 105990172 c.175C>T p.R59W missense 0.00002475●●●●●●
26. 105977760 c.820G>A p.D274N missense 0.00002475●●●●●●
27. 105977759 c.821A>G p.D274G missense 0.00002475●●●●●●
28. 105990154 c.193T>C p.C65R missense 0.00002473●●●●●●
29. 105977855 c.725G>A p.R242Q missense 0.00002472●●●●●●
30. 106002902 c.72G>C p.E24D missense 0.00002472●●●●●●
31. 105990112 c.235C>G p.P79A missense 0.00002472●●●●●●
32. 105979909 c.521T>A p.V174D missense 0.00002356●●●●●●
33. 105979909 c.521T>C p.V174A missense 0.00002356●●●●●●
34. 105979901 c.529C>T p.R177W missense 0.00002235●●●●●●
35. 105984190 c.338G>T p.R113L missense 0.00001673●●●●●●
36. 106002819 c.155A>G p.K52R missense 0.00001662●●●●●●
37. 105984176 c.352A>C p.K118Q missense 0.00001659●●●●●●
38. 106002970 c.4A>G p.T2A missense 0.00001654●●●●●●
39. 105977891 c.689G>T p.G230V missense 0.00001651●●●●●●
40. 105984067 c.461A>G p.Y154C missense 0.00001650●●●●●●
41. 105977765 c.815G>A p.C272Y missense 0.00001649●●●●●●
42. 106002937 c.37T>A p.S13T missense 0.00001649●●●●●●
43. 105977856 c.724C>T p.R242W missense 0.00001648●●●●●●
44. 105990111 c.236C>G p.P79R missense 0.00001648●●●●●●
45. 105990066 c.281C>T p.S94F missense 0.00001648●●●●●●
46. 105977775 c.805G>A p.D269N missense 0.00001648●●●●●●
47. 106002918 c.56A>T p.Y19F missense 0.00001648●●●●●●
48. 106002910 c.64C>T p.R22W missense 0.00001648●●●●●●
49. 106002912 c.62T>A p.L21Q missense 0.00001648●●●●●●
50. 105979921 c.509C>T p.T170I missense 0.00001290●●●●●●
51. 105979898 c.532G>A p.E178K missense 0.00001094●●●●●●
52. 105979837 c.593A>G p.Q198R missense 0.00000866●●●●●●
53. 105984188 c.340A>G p.K114E missense 0.00000836●●●●●●
54. 106002820 c.154A>G p.K52E missense 0.00000831●●●●●●
55. 105979798 c.632A>T p.N211I missense 0.00000830●●●●●●
56. 105979798 c.632A>G p.N211S missense 0.00000830●●●●●●
57. 105979786 c.644A>C p.D215A missense 0.00000829●●●●●●
58. 105984050 c.478A>G p.M160V missense 0.00000829●●●●●●
59. 105979789 c.641G>A p.C214Y missense 0.00000829●●●●●●
60. 105979762 c.668G>T p.G223V missense 0.00000828●●●●●●
61. 105979775 c.655A>C p.K219Q missense 0.00000828●●●●●●
62. 106002832 c.142G>C p.G48R missense 0.00000828●●●●●●
63. 105984166 c.362G>A p.S121N missense 0.00000827●●●●●●
64. 105990190 c.157G>A p.D53N missense 0.00000827●●●●●●
65. 106002846 c.128G>T p.C43F missense 0.00000826●●●●●●
66. 105977756 c.824G>A p.C275Y missense 0.00000826●●●●●●
67. 106002963 c.11G>A p.R4H missense 0.00000826●●●●●●
68. 105984137 c.391C>A p.R131S missense 0.00000826●●●●●●
69. 106002844 c.130G>A p.G44R missense 0.00000826●●●●●●
70. 106002948 c.26A>G p.H9R missense 0.00000825●●●●●●
71. 106002852 c.122A>G p.E41G missense 0.00000825●●●●●●
72. 106002957 c.17A>G p.D6G missense 0.00000825●●●●●●
73. 105977757 c.823T>C p.C275R missense 0.00000825●●●●●●
74. 105984154 c.374C>A p.T125N missense 0.00000825●●●●●●
75. 106002858 c.116C>T p.T39I missense 0.00000825●●●●●●
76. 105990164 c.183G>T p.W61C missense 0.00000825●●●●●●
77. 105984155 c.373A>T p.T125S missense 0.00000825●●●●●●
78. 106002946 c.28T>C p.C10R missense 0.00000825●●●●●●
79. 106002861 c.113A>G p.N38S missense 0.00000825●●●●●●
80. 105990171 c.176G>A p.R59Q missense 0.00000825●●●●●●
81. 105977786 c.794C>T p.T265I missense 0.00000824●●●●●●
82. 105990114 c.233A>G p.K78R missense 0.00000824●●●●●●
83. 106002939 c.35A>G p.E12G missense 0.00000824●●●●●●
84. 105984124 c.404C>A p.P135Q missense 0.00000824●●●●●●
85. 106002912 c.62T>G p.L21R missense 0.00000824●●●●●●
86. 105977802 c.778G>A p.G260R missense 0.00000824●●●●●●
87. 105990156 c.191C>G p.A64G missense 0.00000824●●●●●●
88. 105990111 c.236C>T p.P79L missense 0.00000824●●●●●●
89. 105984098 c.430A>G p.K144E missense 0.00000824●●●●●●
90. 106002940 c.34G>A p.E12K missense 0.00000824●●●●●●
91. 105977820 c.760T>G p.C254G missense 0.00000824●●●●●●
92. 105990052 c.295T>A p.S99T missense 0.00000824●●●●●●
93. 105977775 c.805G>C p.D269H missense 0.00000824●●●●●●
94. 105977855 c.725G>C p.R242P missense 0.00000824●●●●●●
95. 105977824 c.756G>C p.K252N missense 0.00000824●●●●●●
96. 105990156 c.191C>T p.A64V missense 0.00000824●●●●●●
97. 105990072 c.275G>A p.C92Y missense 0.00000824●●●●●●
98. 105984122 c.406A>T p.I136F missense 0.00000824●●●●●●
99. 106002919 c.55T>C p.Y19H 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.