FHL2 non-truncating variants in ExAC

FHL2 gene summary
FHL2 variants in DCM

The table below lists the FHL2 non-truncating 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. 105977798 c.782G>A p.R261H missense 0.00003295●●●●●●
9. 105977830 c.750C>G p.N250K 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. 105977759 c.821A>G p.D274G missense 0.00002475●●●●●●
19. 105990172 c.175C>T p.R59W missense 0.00002475●●●●●●
20. 105990154 c.193T>C p.C65R missense 0.00002473●●●●●●
21. 105977855 c.725G>A p.R242Q missense 0.00002472●●●●●●
22. 105990112 c.235C>G p.P79A missense 0.00002472●●●●●●
23. 106002902 c.72G>C p.E24D missense 0.00002472●●●●●●
24. 105979909 c.521T>C p.V174A missense 0.00002356●●●●●●
25. 105979909 c.521T>A p.V174D 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. 105990111 c.236C>G p.P79R missense 0.00001648●●●●●●
36. 105977775 c.805G>A p.D269N missense 0.00001648●●●●●●
37. 106002918 c.56A>T p.Y19F missense 0.00001648●●●●●●
38. 106002910 c.64C>T p.R22W missense 0.00001648●●●●●●
39. 105977856 c.724C>T p.R242W missense 0.00001648●●●●●●
40. 106002912 c.62T>A p.L21Q missense 0.00001648●●●●●●
41. 105990066 c.281C>T p.S94F missense 0.00001648●●●●●●
42. 105979921 c.509C>T p.T170I missense 0.00001290●●●●●●
43. 105979898 c.532G>A p.E178K missense 0.00001094●●●●●●
44. 105979837 c.593A>G p.Q198R missense 0.00000866●●●●●●
45. 105984188 c.340A>G p.K114E missense 0.00000836●●●●●●
46. 106002820 c.154A>G p.K52E missense 0.00000831●●●●●●
47. 105979798 c.632A>T p.N211I missense 0.00000830●●●●●●
48. 105979798 c.632A>G p.N211S missense 0.00000830●●●●●●
49. 105979789 c.641G>A p.C214Y missense 0.00000829●●●●●●
50. 105984050 c.478A>G p.M160V missense 0.00000829●●●●●●
51. 105979786 c.644A>C p.D215A missense 0.00000829●●●●●●
52. 106002832 c.142G>C p.G48R missense 0.00000828●●●●●●
53. 105979775 c.655A>C p.K219Q missense 0.00000828●●●●●●
54. 105979762 c.668G>T p.G223V missense 0.00000828●●●●●●
55. 105984166 c.362G>A p.S121N missense 0.00000827●●●●●●
56. 105990190 c.157G>A p.D53N missense 0.00000827●●●●●●
57. 106002844 c.130G>A p.G44R missense 0.00000826●●●●●●
58. 106002846 c.128G>T p.C43F missense 0.00000826●●●●●●
59. 106002963 c.11G>A p.R4H missense 0.00000826●●●●●●
60. 105984137 c.391C>A p.R131S missense 0.00000826●●●●●●
61. 105977756 c.824G>A p.C275Y missense 0.00000826●●●●●●
62. 106002858 c.116C>T p.T39I missense 0.00000825●●●●●●
63. 105990164 c.183G>T p.W61C missense 0.00000825●●●●●●
64. 105977757 c.823T>C p.C275R missense 0.00000825●●●●●●
65. 105984154 c.374C>A p.T125N missense 0.00000825●●●●●●
66. 106002946 c.28T>C p.C10R missense 0.00000825●●●●●●
67. 106002861 c.113A>G p.N38S missense 0.00000825●●●●●●
68. 105990171 c.176G>A p.R59Q missense 0.00000825●●●●●●
69. 105984155 c.373A>T p.T125S missense 0.00000825●●●●●●
70. 106002948 c.26A>G p.H9R missense 0.00000825●●●●●●
71. 106002852 c.122A>G p.E41G missense 0.00000825●●●●●●
72. 106002957 c.17A>G p.D6G missense 0.00000825●●●●●●
73. 105984124 c.404C>A p.P135Q missense 0.00000824●●●●●●
74. 106002940 c.34G>A p.E12K missense 0.00000824●●●●●●
75. 105977824 c.756G>C p.K252N missense 0.00000824●●●●●●
76. 105990111 c.236C>T p.P79L missense 0.00000824●●●●●●
77. 106002939 c.35A>G p.E12G missense 0.00000824●●●●●●
78. 105977775 c.805G>C p.D269H missense 0.00000824●●●●●●
79. 105990052 c.295T>A p.S99T missense 0.00000824●●●●●●
80. 105984098 c.430A>G p.K144E missense 0.00000824●●●●●●
81. 106002919 c.55T>C p.Y19H missense 0.00000824●●●●●●
82. 105990156 c.191C>T p.A64V missense 0.00000824●●●●●●
83. 105977786 c.794C>T p.T265I missense 0.00000824●●●●●●
84. 105990072 c.275G>A p.C92Y missense 0.00000824●●●●●●
85. 105984122 c.406A>T p.I136F missense 0.00000824●●●●●●
86. 105977820 c.760T>G p.C254G missense 0.00000824●●●●●●
87. 105990156 c.191C>G p.A64G missense 0.00000824●●●●●●
88. 105990114 c.233A>G p.K78R missense 0.00000824●●●●●●
89. 106002912 c.62T>G p.L21R missense 0.00000824●●●●●●
90. 105977802 c.778G>A p.G260R missense 0.00000824●●●●●●
91. 105977855 c.725G>C p.R242P 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.