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