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. 105990112 c.235C>G p.P79A missense 0.00002472●●●●●●
31. 106002902 c.72G>C p.E24D 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. 106002910 c.64C>T p.R22W missense 0.00001648●●●●●●
44. 105977775 c.805G>A p.D269N missense 0.00001648●●●●●●
45. 105990111 c.236C>G p.P79R missense 0.00001648●●●●●●
46. 105990066 c.281C>T p.S94F missense 0.00001648●●●●●●
47. 106002912 c.62T>A p.L21Q missense 0.00001648●●●●●●
48. 106002918 c.56A>T p.Y19F missense 0.00001648●●●●●●
49. 105977856 c.724C>T p.R242W 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>G p.N211S missense 0.00000830●●●●●●
56. 105979798 c.632A>T p.N211I missense 0.00000830●●●●●●
57. 105984050 c.478A>G p.M160V missense 0.00000829●●●●●●
58. 105979789 c.641G>A p.C214Y missense 0.00000829●●●●●●
59. 105979786 c.644A>C p.D215A missense 0.00000829●●●●●●
60. 105979775 c.655A>C p.K219Q missense 0.00000828●●●●●●
61. 106002832 c.142G>C p.G48R missense 0.00000828●●●●●●
62. 105979762 c.668G>T p.G223V 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. 106002963 c.11G>A p.R4H missense 0.00000826●●●●●●
67. 105977756 c.824G>A p.C275Y missense 0.00000826●●●●●●
68. 105984137 c.391C>A p.R131S missense 0.00000826●●●●●●
69. 106002844 c.130G>A p.G44R missense 0.00000826●●●●●●
70. 106002852 c.122A>G p.E41G missense 0.00000825●●●●●●
71. 106002858 c.116C>T p.T39I missense 0.00000825●●●●●●
72. 106002861 c.113A>G p.N38S missense 0.00000825●●●●●●
73. 105984154 c.374C>A p.T125N missense 0.00000825●●●●●●
74. 105984155 c.373A>T p.T125S missense 0.00000825●●●●●●
75. 105990171 c.176G>A p.R59Q missense 0.00000825●●●●●●
76. 105990164 c.183G>T p.W61C missense 0.00000825●●●●●●
77. 106002946 c.28T>C p.C10R missense 0.00000825●●●●●●
78. 106002948 c.26A>G p.H9R missense 0.00000825●●●●●●
79. 105977757 c.823T>C p.C275R missense 0.00000825●●●●●●
80. 106002957 c.17A>G p.D6G missense 0.00000825●●●●●●
81. 105977820 c.760T>G p.C254G missense 0.00000824●●●●●●
82. 105984122 c.406A>T p.I136F missense 0.00000824●●●●●●
83. 106002912 c.62T>G p.L21R missense 0.00000824●●●●●●
84. 106002919 c.55T>C p.Y19H missense 0.00000824●●●●●●
85. 105977824 c.756G>C p.K252N missense 0.00000824●●●●●●
86. 106002940 c.34G>A p.E12K missense 0.00000824●●●●●●
87. 106002939 c.35A>G p.E12G missense 0.00000824●●●●●●
88. 105977855 c.725G>C p.R242P missense 0.00000824●●●●●●
89. 105977802 c.778G>A p.G260R missense 0.00000824●●●●●●
90. 105977786 c.794C>T p.T265I missense 0.00000824●●●●●●
91. 105984098 c.430A>G p.K144E missense 0.00000824●●●●●●
92. 105977775 c.805G>C p.D269H missense 0.00000824●●●●●●
93. 105984124 c.404C>A p.P135Q missense 0.00000824●●●●●●
94. 105990156 c.191C>G p.A64G missense 0.00000824●●●●●●
95. 105990156 c.191C>T p.A64V missense 0.00000824●●●●●●
96. 105990114 c.233A>G p.K78R missense 0.00000824●●●●●●
97. 105990111 c.236C>T p.P79L missense 0.00000824●●●●●●
98. 105990072 c.275G>A p.C92Y missense 0.00000824●●●●●●
99. 105990052 c.295T>A p.S99T 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.