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