FHL2 variants in ExAC

FHL2 gene summary
FHL2 variants in DCM

The table below lists the FHL2 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. 105977901 c.689-10C>G splice site 0.00135604●●●●●●
3. 106002889 c.85G>A p.V29M missense 0.00107966●●●●●●
4. 106002865 c.109G>T p.A37S missense 0.00058551●●●●●●
5. 105984191 c.337C>T p.R113C missense 0.00038489●●●●●●
6. 105979871 c.559G>T p.V187L missense 0.00023145●●●●●●
7. 105979907 c.523A>C p.T175P missense 0.00018435●●●●●●
8. 105984203 c.332-7A>G splice site 0.00017701●●●●●●
9. 105984126 c.402G>C p.Q134H missense 0.00013183●●●●●●
10. 105990139 c.208C>G p.Q70E missense 0.00012360●●●●●●
11. 105979742 c.688G>A p.G230R missense 0.00008307●●●●●●
12. 105979743 c.687C>T p.S229S splice site 0.00008305●●●●●●
13. 105979918 c.512C>T p.T171M missense 0.00006295●●●●●●
14. 105977841 c.739G>A p.D247N missense 0.00005767●●●●●●
15. 105984136 c.392G>A p.R131H missense 0.00004956●●●●●●
16. 106002865 c.109G>A p.A37T missense 0.00004948●●●●●●
17. 105979871 c.559G>A p.V187M missense 0.00003858●●●●●●
18. 105979735 c.688+7G>A splice site 0.00003329●●●●●●
19. 105990062 c.285C>G p.N95K missense 0.00003297●●●●●●
20. 105977798 c.782G>A p.R261H missense 0.00003295●●●●●●
21. 105977830 c.750C>G p.N250K missense 0.00003295●●●●●●
22. 105979835 c.595C>T p.R199C missense 0.00002585●●●●●●
23. 105984190 c.338G>A p.R113H missense 0.00002510●●●●●●
24. 105984041 c.487G>A p.V163I missense 0.00002508●●●●●●
25. 106002832 c.142G>A p.G48S missense 0.00002483●●●●●●
26. 106002964 c.10C>T p.R4C missense 0.00002478●●●●●●
27. 106002964 c.10C>A p.R4S missense 0.00002478●●●●●●
28. 106002853 c.121G>A p.E41K missense 0.00002476●●●●●●
29. 105977760 c.820G>A p.D274N missense 0.00002475●●●●●●
30. 105977759 c.821A>G p.D274G missense 0.00002475●●●●●●
31. 105990172 c.175C>T p.R59W missense 0.00002475●●●●●●
32. 105990154 c.193T>C p.C65R missense 0.00002473●●●●●●
33. 105977855 c.725G>A p.R242Q missense 0.00002472●●●●●●
34. 105990112 c.235C>G p.P79A missense 0.00002472●●●●●●
35. 106002902 c.72G>C p.E24D missense 0.00002472●●●●●●
36. 105979909 c.521T>C p.V174A missense 0.00002356●●●●●●
37. 105979909 c.521T>A p.V174D missense 0.00002356●●●●●●
38. 105979901 c.529C>T p.R177W missense 0.00002235●●●●●●
39. 105984190 c.338G>T p.R113L missense 0.00001673●●●●●●
40. 106002819 c.155A>G p.K52R missense 0.00001662●●●●●●
41. 105984176 c.352A>C p.K118Q missense 0.00001659●●●●●●
42. 106002970 c.4A>G p.T2A missense 0.00001654●●●●●●
43. 105977891 c.689G>T p.G230V missense 0.00001651●●●●●●
44. 105984067 c.461A>G p.Y154C missense 0.00001650●●●●●●
45. 105977765 c.815G>A p.C272Y missense 0.00001649●●●●●●
46. 106002937 c.37T>A p.S13T missense 0.00001649●●●●●●
47. 105990066 c.281C>T p.S94F missense 0.00001648●●●●●●
48. 105977775 c.805G>A p.D269N missense 0.00001648●●●●●●
49. 105977856 c.724C>T p.R242W missense 0.00001648●●●●●●
50. 105990111 c.236C>G p.P79R missense 0.00001648●●●●●●
51. 106002910 c.64C>T p.R22W missense 0.00001648●●●●●●
52. 106002912 c.62T>A p.L21Q missense 0.00001648●●●●●●
53. 106002918 c.56A>T p.Y19F missense 0.00001648●●●●●●
54. 105979921 c.509C>T p.T170I missense 0.00001290●●●●●●
55. 105979898 c.532G>A p.E178K missense 0.00001094●●●●●●
56. 0 c.-146+7C>G splice site 0.00000876●●●●●●
57. 0 c.-146+1G>A essential splice site 0.00000875●●●●●●
58. 105979837 c.593A>G p.Q198R missense 0.00000866●●●●●●
59. 105984020 c.501+7C>A splice site 0.00000859●●●●●●
60. 105984024 c.501+3A>G splice site 0.00000854●●●●●●
61. 105984027 c.501G>A splice site 0.00000851●●●●●●
62. 105984202 c.332-6T>A splice site 0.00000843●●●●●●
63. 0 c.-24-10_-24-6delTTTTT splice site 0.00000842●●●●●●
64. 0 c.-24-3T>G splice site 0.00000841●●●●●●
65. 0 c.-24-4A>C splice site 0.00000841●●●●●●
66. 105984195 c.333T>C splice site 0.00000839●●●●●●
67. 105984188 c.340A>G p.K114E missense 0.00000836●●●●●●
68. 106002816 c.156+2T>C essential splice site 0.00000832●●●●●●
69. 106002814 c.156+4C>T splice site 0.00000832●●●●●●
70. 106002820 c.154A>G p.K52E missense 0.00000831●●●●●●
71. 105979798 c.632A>T p.N211I missense 0.00000830●●●●●●
72. 105979798 c.632A>G p.N211S missense 0.00000830●●●●●●
73. 105979786 c.644A>C p.D215A missense 0.00000829●●●●●●
74. 105979789 c.641G>A p.C214Y missense 0.00000829●●●●●●
75. 105984050 c.478A>G p.M160V missense 0.00000829●●●●●●
76. 105990014 c.331+2T>A essential splice site 0.00000829●●●●●●
77. 105990013 c.331+3C>T splice site 0.00000829●●●●●●
78. 105979762 c.668G>T p.G223V missense 0.00000828●●●●●●
79. 105979775 c.655A>C p.K219Q missense 0.00000828●●●●●●
80. 106002832 c.142G>C p.G48R missense 0.00000828●●●●●●
81. 105990198 c.157-8C>T splice site 0.00000828●●●●●●
82. 105984166 c.362G>A p.S121N missense 0.00000827●●●●●●
83. 105990190 c.157G>A p.D53N missense 0.00000827●●●●●●
84. 105990193 c.157-3C>T splice site 0.00000827●●●●●●
85. 106002844 c.130G>A p.G44R missense 0.00000826●●●●●●
86. 106002963 c.11G>A p.R4H missense 0.00000826●●●●●●
87. 105984137 c.391C>A p.R131S missense 0.00000826●●●●●●
88. 105977756 c.824G>A p.C275Y missense 0.00000826●●●●●●
89. 106002846 c.128G>T p.C43F missense 0.00000826●●●●●●
90. 105990043 c.304C>T p.Q102X nonsense 0.00000825●●●●●●
91. 105977757 c.823T>C p.C275R missense 0.00000825●●●●●●
92. 105984154 c.374C>A p.T125N missense 0.00000825●●●●●●
93. 105984155 c.373A>T p.T125S missense 0.00000825●●●●●●
94. 105990164 c.183G>T p.W61C missense 0.00000825●●●●●●
95. 105990164 c.183G>A p.W61X nonsense 0.00000825●●●●●●
96. 105990171 c.176G>A p.R59Q missense 0.00000825●●●●●●
97. 106002852 c.122A>G p.E41G missense 0.00000825●●●●●●
98. 106002858 c.116C>T p.T39I missense 0.00000825●●●●●●
99. 106002861 c.113A>G p.N38S missense 0.00000825●●●●●●
100. 106002946 c.28T>C p.C10R missense 0.00000825●●●●●●
101. 106002948 c.26A>G p.H9R missense 0.00000825●●●●●●
102. 106002957 c.17A>G p.D6G missense 0.00000825●●●●●●
103. 106002939 c.35A>G p.E12G missense 0.00000824●●●●●●
104. 105977775 c.805G>C p.D269H missense 0.00000824●●●●●●
105. 105977786 c.794C>T p.T265I missense 0.00000824●●●●●●
106. 105977802 c.778G>A p.G260R missense 0.00000824●●●●●●
107. 105977820 c.760T>G p.C254G missense 0.00000824●●●●●●
108. 105977824 c.756G>C p.K252N missense 0.00000824●●●●●●
109. 105977855 c.725G>C p.R242P missense 0.00000824●●●●●●
110. 105984098 c.430A>G p.K144E missense 0.00000824●●●●●●
111. 105984122 c.406A>T p.I136F missense 0.00000824●●●●●●
112. 105984124 c.404C>A p.P135Q missense 0.00000824●●●●●●
113. 105990052 c.295T>A p.S99T missense 0.00000824●●●●●●
114. 105990072 c.275G>A p.C92Y missense 0.00000824●●●●●●
115. 105990111 c.236C>T p.P79L missense 0.00000824●●●●●●
116. 105990114 c.233A>G p.K78R missense 0.00000824●●●●●●
117. 105990156 c.191C>T p.A64V missense 0.00000824●●●●●●
118. 105990156 c.191C>G p.A64G missense 0.00000824●●●●●●
119. 106002893 c.81C>A p.Y27X nonsense 0.00000824●●●●●●
120. 106002912 c.62T>G p.L21R missense 0.00000824●●●●●●
121. 106002919 c.55T>C p.Y19H missense 0.00000824●●●●●●
122. 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.