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. 105977830 c.750C>G p.N250K missense 0.00003295●●●●●●
21. 105977798 c.782G>A p.R261H 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>A p.R4S missense 0.00002478●●●●●●
27. 106002964 c.10C>T p.R4C missense 0.00002478●●●●●●
28. 106002853 c.121G>A p.E41K missense 0.00002476●●●●●●
29. 105990172 c.175C>T p.R59W missense 0.00002475●●●●●●
30. 105977760 c.820G>A p.D274N missense 0.00002475●●●●●●
31. 105977759 c.821A>G p.D274G missense 0.00002475●●●●●●
32. 105990154 c.193T>C p.C65R missense 0.00002473●●●●●●
33. 105977855 c.725G>A p.R242Q missense 0.00002472●●●●●●
34. 106002902 c.72G>C p.E24D missense 0.00002472●●●●●●
35. 105990112 c.235C>G p.P79A 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. 105977856 c.724C>T p.R242W missense 0.00001648●●●●●●
48. 105990111 c.236C>G p.P79R missense 0.00001648●●●●●●
49. 106002918 c.56A>T p.Y19F missense 0.00001648●●●●●●
50. 106002910 c.64C>T p.R22W missense 0.00001648●●●●●●
51. 105977775 c.805G>A p.D269N missense 0.00001648●●●●●●
52. 105990066 c.281C>T p.S94F missense 0.00001648●●●●●●
53. 106002912 c.62T>A p.L21Q 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. 105979789 c.641G>A p.C214Y missense 0.00000829●●●●●●
74. 105984050 c.478A>G p.M160V missense 0.00000829●●●●●●
75. 105979786 c.644A>C p.D215A missense 0.00000829●●●●●●
76. 105990013 c.331+3C>T splice site 0.00000829●●●●●●
77. 105990014 c.331+2T>A essential splice site 0.00000829●●●●●●
78. 106002832 c.142G>C p.G48R missense 0.00000828●●●●●●
79. 105979775 c.655A>C p.K219Q missense 0.00000828●●●●●●
80. 105990198 c.157-8C>T splice site 0.00000828●●●●●●
81. 105979762 c.668G>T p.G223V missense 0.00000828●●●●●●
82. 105984166 c.362G>A p.S121N missense 0.00000827●●●●●●
83. 105990193 c.157-3C>T splice site 0.00000827●●●●●●
84. 105990190 c.157G>A p.D53N missense 0.00000827●●●●●●
85. 105984137 c.391C>A p.R131S missense 0.00000826●●●●●●
86. 106002846 c.128G>T p.C43F missense 0.00000826●●●●●●
87. 105977756 c.824G>A p.C275Y missense 0.00000826●●●●●●
88. 106002844 c.130G>A p.G44R missense 0.00000826●●●●●●
89. 106002963 c.11G>A p.R4H missense 0.00000826●●●●●●
90. 106002957 c.17A>G p.D6G missense 0.00000825●●●●●●
91. 106002861 c.113A>G p.N38S missense 0.00000825●●●●●●
92. 105990171 c.176G>A p.R59Q missense 0.00000825●●●●●●
93. 105984154 c.374C>A p.T125N missense 0.00000825●●●●●●
94. 106002946 c.28T>C p.C10R missense 0.00000825●●●●●●
95. 106002852 c.122A>G p.E41G missense 0.00000825●●●●●●
96. 105990164 c.183G>T p.W61C missense 0.00000825●●●●●●
97. 105977757 c.823T>C p.C275R missense 0.00000825●●●●●●
98. 105990043 c.304C>T p.Q102X nonsense 0.00000825●●●●●●
99. 105984155 c.373A>T p.T125S missense 0.00000825●●●●●●
100. 106002948 c.26A>G p.H9R missense 0.00000825●●●●●●
101. 106002858 c.116C>T p.T39I missense 0.00000825●●●●●●
102. 105990164 c.183G>A p.W61X nonsense 0.00000825●●●●●●
103. 106002939 c.35A>G p.E12G missense 0.00000824●●●●●●
104. 106002912 c.62T>G p.L21R missense 0.00000824●●●●●●
105. 105977824 c.756G>C p.K252N missense 0.00000824●●●●●●
106. 105977786 c.794C>T p.T265I missense 0.00000824●●●●●●
107. 105990156 c.191C>T p.A64V missense 0.00000824●●●●●●
108. 105990114 c.233A>G p.K78R missense 0.00000824●●●●●●
109. 106002940 c.34G>A p.E12K missense 0.00000824●●●●●●
110. 105984124 c.404C>A p.P135Q missense 0.00000824●●●●●●
111. 105977802 c.778G>A p.G260R missense 0.00000824●●●●●●
112. 105990156 c.191C>G p.A64G missense 0.00000824●●●●●●
113. 105990111 c.236C>T p.P79L missense 0.00000824●●●●●●
114. 106002919 c.55T>C p.Y19H missense 0.00000824●●●●●●
115. 105990052 c.295T>A p.S99T missense 0.00000824●●●●●●
116. 105984098 c.430A>G p.K144E missense 0.00000824●●●●●●
117. 105977820 c.760T>G p.C254G missense 0.00000824●●●●●●
118. 105977775 c.805G>C p.D269H missense 0.00000824●●●●●●
119. 105977855 c.725G>C p.R242P missense 0.00000824●●●●●●
120. 106002893 c.81C>A p.Y27X nonsense 0.00000824●●●●●●
121. 105990072 c.275G>A p.C92Y missense 0.00000824●●●●●●
122. 105984122 c.406A>T p.I136F 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.