APOA1 variants in ExAC

APOA1 gene summary
APOA1 variants in

The table below lists the APOA1 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. 116707736 c.181G>A p.A61T missense 0.00285294●●●●●●
2. 116707044 c.284T>A p.F95Y missense 0.00054496●●●●●●
3. 116706766 c.562G>T p.A188S missense 0.00049363●●●●●●
4. 116707739 c.178T>G p.S60A missense 0.00035535●●●●●●
5. 116706937 c.391_393delAAG inframe 0.00022281●●●●●●
6. 116706874 c.454G>A p.E152K missense 0.00015159●●●●●●
7. 116708076 c.28G>A p.V10M missense 0.00015025●●●●●●
8. 116706796 c.532_533delGC frameshift 0.00011842●●●●●●
9. 116707837 c.80C>A p.P27H missense 0.00009942●●●●●●
10. 116706830 c.498C>A p.S166R missense 0.00009627●●●●●●
11. 116706717 c.611C>T p.A204V missense 0.00005281●●●●●●
12. 116706562 c.766G>A p.A256T missense 0.00005163●●●●●●
13. 116707878 c.44-5C>G splice site 0.00004195●●●●●●
14. 116707790 c.127G>A p.V43M missense 0.00004126●●●●●●
15. 116706801 c.527C>T p.A176V missense 0.00003617●●●●●●
16. 116707862 c.55C>T p.R19W missense 0.00003337●●●●●●
17. 116706903 c.425A>G p.K142R missense 0.00003326●●●●●●
18. 116707834 c.83C>G p.P28R missense 0.00003312●●●●●●
19. 116707067 c.261G>T p.Q87H missense 0.00003308●●●●●●
20. 116706802 c.526G>A p.A176T missense 0.00002712●●●●●●
21. 116706726 c.602G>A p.R201H missense 0.00002650●●●●●●
22. 116706534 c.794_796dupACA p.Asn265dup inframe 0.00002599●●●●●●
23. 116706567 c.761T>G p.L254R missense 0.00002575●●●●●●
24. 116706666 c.662C>G p.T221S missense 0.00002554●●●●●●
25. 116707879 c.44-6C>T splice site 0.00002516●●●●●●
26. 116707741 c.176G>T p.G59V missense 0.00002479●●●●●●
27. 116706802 c.526G>T p.A176S missense 0.00001808●●●●●●
28. 116706751 c.577G>A p.E193K missense 0.00001788●●●●●●
29. 116706727 c.601C>A p.R201S missense 0.00001773●●●●●●
30. 116706691 c.637C>G p.L213V missense 0.00001746●●●●●●
31. 116706604 c.724C>A p.L242M missense 0.00001701●●●●●●
32. 116706655 c.673A>G p.S225G missense 0.00001698●●●●●●
33. 116707127 c.201C>A p.N67K missense 0.00001692●●●●●●
34. 116707710 c.200+7A>T splice site 0.00001657●●●●●●
35. 116707826 c.91C>G p.P31A missense 0.00001654●●●●●●
36. 116707816 c.101G>T p.R34L missense 0.00001652●●●●●●
37. 116707801 c.116C>T p.A39V missense 0.00001651●●●●●●
38. 116707796 c.121G>T p.V41L missense 0.00001651●●●●●●
39. 116707759 c.158A>G p.Y53C missense 0.00001651●●●●●●
40. 116707769 c.148G>A p.G50S missense 0.00001651●●●●●●
41. 116706989 c.339T>G p.D113E missense 0.00001648●●●●●●
42. 116706777 c.551G>T p.R184L missense 0.00000903●●●●●●
43. 116706754 c.574G>A p.D192N missense 0.00000895●●●●●●
44. 116706752 c.576C>G p.D192E missense 0.00000894●●●●●●
45. 116706741 c.587A>C p.Q196P missense 0.00000890●●●●●●
46. 116706820 c.508G>A p.E170K missense 0.00000890●●●●●●
47. 116706733 c.595G>A p.A199T missense 0.00000888●●●●●●
48. 116706826 c.502C>G p.L168V missense 0.00000881●●●●●●
49. 116706694 c.634A>G p.R212G missense 0.00000879●●●●●●
50. 116706828 c.500C>G p.P167R missense 0.00000878●●●●●●
51. 116706711 c.617A>G p.K206R missense 0.00000874●●●●●●
52. 116706707 c.621G>T p.E207D missense 0.00000872●●●●●●
53. 116706834 c.494T>G p.L165R missense 0.00000869●●●●●●
54. 116706836 c.492G>C p.K164N missense 0.00000867●●●●●●
55. 116706528 c.800A>C p.Q267P missense 0.00000867●●●●●●
56. 116706529 c.799C>T p.Q267X nonsense 0.00000867●●●●●●
57. 116706840 c.488A>G p.E163G missense 0.00000863●●●●●●
58. 116706843 c.485A>C p.Q162P missense 0.00000862●●●●●●
59. 116706848 c.480G>T p.E160D missense 0.00000858●●●●●●
60. 116706850 c.478G>C p.E160Q missense 0.00000857●●●●●●
61. 116706576 c.752T>A p.V251D missense 0.00000856●●●●●●
62. 116706851 c.477C>A p.H159Q missense 0.00000855●●●●●●
63. 116706670 c.658G>C p.A220P missense 0.00000853●●●●●●
64. 116706601 c.727C>G p.L243V missense 0.00000852●●●●●●
65. 116706615 c.713_715delTCC p.Leu238del inframe 0.00000851●●●●●●
66. 116706664 c.664G>A p.E222K missense 0.00000851●●●●●●
67. 116706622 c.706G>A p.E236K missense 0.00000850●●●●●●
68. 116706615 c.713T>C p.L238P missense 0.00000850●●●●●●
69. 116706643 c.685G>A p.E229K missense 0.00000848●●●●●●
70. 116706644 c.684C>A p.S228R missense 0.00000848●●●●●●
71. 116707877 c.44-4T>G splice site 0.00000839●●●●●●
72. 116707118 c.210_212delCCT p.Leu71del inframe 0.00000839●●●●●●
73. 116707880 c.44-7C>T splice site 0.00000839●●●●●●
74. 116707117 c.211C>G p.L71V missense 0.00000839●●●●●●
75. 116707880 c.44-7C>A splice site 0.00000839●●●●●●
76. 116707861 c.56G>C p.R19P missense 0.00000834●●●●●●
77. 116706910 c.418C>T p.R140C missense 0.00000830●●●●●●
78. 116706911 c.417C>A p.Y139X nonsense 0.00000830●●●●●●
79. 116707838 c.79C>T p.P27S missense 0.00000829●●●●●●
80. 116707708 c.200+9C>A splice site 0.00000829●●●●●●
81. 116707086 c.242T>A p.F81Y missense 0.00000829●●●●●●
82. 116706921 c.407T>G p.M136R missense 0.00000828●●●●●●
83. 116707835 c.82C>T p.P28S missense 0.00000828●●●●●●
84. 116707729 c.188delG p.Gly63GlufsTer4 frameshift 0.00000827●●●●●●
85. 116707053 c.275C>T p.T92I missense 0.00000826●●●●●●
86. 116707739 c.178T>C p.S60P missense 0.00000826●●●●●●
87. 116706951 c.377A>G p.D126G missense 0.00000825●●●●●●
88. 116707771 c.146G>T p.S49I missense 0.00000825●●●●●●
89. 116706939 c.389A>G p.K130R missense 0.00000825●●●●●●
90. 116707027 c.301A>G p.K101E missense 0.00000825●●●●●●
91. 116707772 c.145A>C p.S49R missense 0.00000825●●●●●●
92. 116707016 c.312G>T p.E104D missense 0.00000825●●●●●●
93. 116707785 c.132T>A p.D44E missense 0.00000825●●●●●●
94. 116707032 c.296T>C p.L99P missense 0.00000825●●●●●●
95. 116707018 c.310G>A p.E104K missense 0.00000825●●●●●●
96. 116707799 c.118A>G p.T40A missense 0.00000825●●●●●●
97. 116706998 c.330G>C p.M110I missense 0.00000824●●●●●●
98. 116706956 c.372C>G p.Y124X nonsense 0.00000824●●●●●●
99. 116706966 c.362T>C p.V121A missense 0.00000824●●●●●●
100. 116706972 c.356C>T p.A119V 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.