AKAP9 truncating variants in ExAC

AKAP9 gene summary
AKAP9 variants in

The table below lists the AKAP9 truncating 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. 91726312 c.10039G>T p.E3347X nonsense 0.00035468●●●●●●
2. 91707190 c.6945+1G>A essential splice site 0.00008275●●●●●●
3. 91631517 c.2286_2287delAG p.Asn764Ter frameshift 0.00002511●●●●●●
4. 91714807 c.8833-2A>C essential splice site 0.00002478●●●●●●
5. 91709467 c.8019+1_8019+4delGTTA essential splice site 0.00002002●●●●●●
6. 91646394 c.3815delT p.Val1272AspfsTer6 frameshift 0.00001692●●●●●●
7. 91630520 c.1289T>A p.L430X nonsense 0.00001664●●●●●●
8. 91722484 c.9432_9435delAGAC p.Asp3145GlufsTer9 frameshift 0.00001656●●●●●●
9. 91726153 c.9880C>T p.R3294X nonsense 0.00001648●●●●●●
10. 91735020 c.11359C>T p.R3787X nonsense 0.00001648●●●●●●
11. 91625116 c.930+2T>C essential splice site 0.00001276●●●●●●
12. 91709425 c.7978_7982delAAAGA p.Arg2664ProfsTer5 frameshift 0.00001158●●●●●●
13. 91694543 c.5978-2A>G essential splice site 0.00001089●●●●●●
14. 91709417 c.7970_7973delAGAG p.E2659Kfs*22 frameshift 0.00001059●●●●●●
15. 91709417 c.7970_7971delAG p.Lys2660ArgfsTer10 frameshift 0.00001059●●●●●●
16. 91714998 c.9022G>T p.E3008X nonsense 0.00000968●●●●●●
17. 91630393 c.1162_1165delAGAC p.Arg388SerfsTer6 frameshift 0.00000920●●●●●●
18. 91630395 c.1164_1165delAC p.Gln389ValfsTer3 frameshift 0.00000908●●●●●●
19. 91645509 c.3679_3680delAA p.Lys1227ArgfsTer5 frameshift 0.00000905●●●●●●
20. 91630396 c.1165C>T p.Q389X nonsense 0.00000896●●●●●●
21. 91631421 c.2190delA p.L731Sfs*25 frameshift 0.00000869●●●●●●
22. 91726594 c.10321C>T p.Q3441X nonsense 0.00000854●●●●●●
23. 91668078 c.4684_4687delAGAC p.Arg1562SerfsTer18 frameshift 0.00000852●●●●●●
24. 91668030 c.4636_4639delCTGA p.Thr1547PhefsTer13 frameshift 0.00000846●●●●●●
25. 91712881 c.8558T>A p.L2853X nonsense 0.00000846●●●●●●
26. 91671358 c.4918-2A>G essential splice site 0.00000845●●●●●●
27. 91631487 c.2256_2257delAG p.Glu753IlefsTer12 frameshift 0.00000843●●●●●●
28. 91691801 c.5977+1_5977+4delGTAA essential splice site 0.00000843●●●●●●
29. 91630416 c.1185_1186delAC p.Gln396ValfsTer14 frameshift 0.00000842●●●●●●
30. 91631176 c.1945C>T p.R649X nonsense 0.00000841●●●●●●
31. 91722614 c.9562G>T p.E3188X nonsense 0.00000839●●●●●●
32. 91708480 c.7033_7036delAGAG p.Arg2345LysfsTer4 frameshift 0.00000838●●●●●●
33. 91670149 c.4854_4855delAC p.Gln1619AlafsTer12 frameshift 0.00000834●●●●●●
34. 91624920 c.736C>T p.Q246X nonsense 0.00000833●●●●●●
35. 91722434 c.9382C>T p.Q3128X nonsense 0.00000831●●●●●●
36. 91624010 c.652_656delAGAAG p.Arg219LysfsTer3 frameshift 0.00000829●●●●●●
37. 91691740 c.5917_5920delAGAG p.Arg1973AsnfsTer10 frameshift 0.00000829●●●●●●
38. 91695825 c.6295C>T p.R2099X nonsense 0.00000828●●●●●●
39. 91700228 c.6517C>T p.R2173X nonsense 0.00000828●●●●●●
40. 91624055 c.697G>T p.E233X nonsense 0.00000828●●●●●●
41. 91709227 c.7780G>T p.E2594X nonsense 0.00000828●●●●●●
42. 91624037 c.679G>T p.E227X nonsense 0.00000828●●●●●●
43. 91709170 c.7723C>T p.Q2575X nonsense 0.00000827●●●●●●
44. 91726916 c.10415_10416insA p.Thr3473AsnfsTer3 frameshift 0.00000827●●●●●●
45. 91708549 c.7102C>T p.Q2368X nonsense 0.00000827●●●●●●
46. 91691618 c.5795_5796delCT p.Leu1933PhefsTer2 frameshift 0.00000826●●●●●●
47. 91570463 c.48+2T>C essential splice site 0.00000826●●●●●●
48. 91691651 c.5828_5829delAT p.Ile1944AsnfsTer5 frameshift 0.00000826●●●●●●
49. 91621526 c.405+1G>T essential splice site 0.00000826●●●●●●
50. 91641770 c.3346C>T p.Q1116X nonsense 0.00000826●●●●●●
51. 91699435 c.6422delA p.Arg2142GlyfsTer5 frameshift 0.00000826●●●●●●
52. 91641908 c.3484C>T p.Q1162X nonsense 0.00000825●●●●●●
53. 91660910 c.4330delG p.Val1444Ter frameshift 0.00000825●●●●●●
54. 91715541 c.9025-1G>C essential splice site 0.00000825●●●●●●
55. 91726309 c.10036delA p.Glu3347SerfsTer6 frameshift 0.00000825●●●●●●
56. 91691652 c.5829_5830insA p.Ile1944AsnfsTer6 frameshift 0.00000825●●●●●●
57. 91603174 c.198C>A p.Y66X nonsense 0.00000825●●●●●●
58. 91690594 c.5622_5625delACAG p.Thr1876SerfsTer2 frameshift 0.00000825●●●●●●
59. 91735078 c.11416+1G>A essential splice site 0.00000825●●●●●●
60. 91726168 c.9895delC p.Gln3299ArgfsTer14 frameshift 0.00000824●●●●●●
61. 91736684 c.11494_11495insCACCTTGTATAGAGTAAACCAG p.Arg3832ProfsTer6 frameshift 0.00000824●●●●●●
62. 91652232 c.4057C>T p.Q1353X nonsense 0.00000824●●●●●●
63. 91735008 c.11347C>T p.R3783X nonsense 0.00000824●●●●●●
64. 91700294 c.6583C>T p.R2195X nonsense 0.00000824●●●●●●
65. 91652241 c.4066G>T p.E1356X nonsense 0.00000824●●●●●●
66. 91729113 c.10826T>A p.L3609X nonsense 0.00000824●●●●●●
67. 91726195 c.9922C>T p.R3308X nonsense 0.00000824●●●●●●
68. 91715704 c.9187_9190delTGTT p.Cys3063TrpfsTer38 frameshift 0.00000824●●●●●●
69. 91737853 c.11592T>A p.C3864X nonsense 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.