AKAP9 inframe variants in ExAC


The table below lists the AKAP9 inframe 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 frequencyPopulations*
1. 91652178 c.4003_4004insAAC p.Lys1335_Leu1336insGln inframe 0.39892294
2. 91709368 c.7921_7923delAAG p.Lys2641del inframe 0.00002721
3. 91667926 c.4532_4534delAAG p.Glu1513del inframe 0.00002488
4. 91631459 c.2228_2230delAAG p.Glu744del inframe 0.00001704
5. 91711963 c.8147_8149delAAG p.Glu2718del inframe 0.00001659
6. 91691599 c.5776_5777insATAAGA p.Gly1926delinsAspLysSer inframe 0.00001657
7. 91630858 c.1627_1632delCAGATT p.Ile544_Gln545del inframe 0.00001657
8. 91667845 c.4451_4453delAAC p.Gln1485del inframe 0.00001652
9. 91709436 c.7989_7991delAAG p.Arg2664del inframe 0.00001245
10. 91670184 c.4889_4897delTTAAGAGAC p.Lys1631_Leu1633del inframe 0.00000914
11. 91726542 c.10269_10271delACA p.Gln3425del inframe 0.00000841
12. 91726505 c.10232_10237delAAGTGG p.Val3412_Glu3413del inframe 0.00000837
13. 91631131 c.1900_1902delGAA p.Glu636del inframe 0.00000834
14. 91632369 c.3138_3143delAAAAAT p.Lys1047_Ile1048del inframe 0.00000830
15. 91724361 c.9603_9604insGAA p.Asp3201_Glu3202insGlu inframe 0.00000829
16. 91631701 c.2470_2475delATACTT p.Leu825_Ile826del inframe 0.00000829
17. 91712578 c.8255_8257delAAG p.Glu2753del inframe 0.00000828
18. 91671999 c.5076_5078delAGG p.Gly1693del inframe 0.00000828
19. 91632229 c.2998_3000delATT p.Ile1000del inframe 0.00000827
20. 91718744 c.9259_9261delAGA p.Arg3087del inframe 0.00000824
21. 91726959 c.10458_10460delAGA p.Glu3487del inframe 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.