FHL2 protein-altering variants in ExAC

FHL2 gene summary
FHL2 variants in DCM

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

* 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.