GAA truncating variants in ExAC

GAA gene summary
GAA variants in

The table below lists the GAA 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. 78092070 c.2560C>T p.R854X nonsense 0.00021457●●●●●●
2. 78078910 c.525delT frameshift 0.00007041●●●●●●
3. 78086449 c.1827delC frameshift 0.00003750●●●●●●
4. 78086444 c.1822C>T p.R608X nonsense 0.00002760●●●●●●
5. 78078636 c.251_252insC p.Asn87GlnfsTer9 frameshift 0.00002653●●●●●●
6. 78093128 c.2857T>C p.Ter953GlnextTer6 nonsense 0.00002482●●●●●●
7. 78087016 c.2041-1G>A essential splice site 0.00002072●●●●●●
8. 78086447 c.1825_1826insA p.Tyr609Ter frameshift 0.00001860●●●●●●
9. 78078865 c.480_481delCC p.Pro161GlnfsTer15 frameshift 0.00001729●●●●●●
10. 78083828 c.1411_1414delGAGA frameshift 0.00001688●●●●●●
11. 78090813 c.2236_2237insG p.Glu748GlyfsTer48 frameshift 0.00001660●●●●●●
12. 78084525 c.1438-1G>T essential splice site 0.00001659●●●●●●
13. 78093083 c.2812_2813delTG p.Val939LeufsTer78 frameshift 0.00001653●●●●●●
14. 78085870 c.1725C>A p.Y575X nonsense 0.00001652●●●●●●
15. 78092467 c.2662G>T p.E888X nonsense 0.00001650●●●●●●
16. 78086511 c.1888+1G>A essential splice site 0.00001317●●●●●●
17. 78086714 c.1928_1929insGGCCGAC p.Val646GlyfsTer93 frameshift 0.00001169●●●●●●
18. 78081603 c.863_864insT p.Ala289CysfsTer41 frameshift 0.00000933●●●●●●
19. 78078590 c.205C>T p.Q69X nonsense 0.00000909●●●●●●
20. 78078601 c.216_217insG p.Arg74ProfsTer22 frameshift 0.00000904●●●●●●
21. 78091499 c.2432delT frameshift 0.00000904●●●●●●
22. 78078932 c.546+1_546+2insTGGGC essential splice site 0.00000900●●●●●●
23. 78092118 c.2608C>T p.R870X nonsense 0.00000889●●●●●●
24. 78078910 c.525_526delTG frameshift 0.00000880●●●●●●
25. 78078909 c.524_525insT p.Glu176Ter frameshift 0.00000880●●●●●●
26. 78078503 c.118C>T p.R40X nonsense 0.00000868●●●●●●
27. 78092087 c.2577G>A p.W859X nonsense 0.00000867●●●●●●
28. 78082499 c.1198delG p.Val400SerfsTer40 frameshift 0.00000866●●●●●●
29. 78078746 c.361C>T p.Q121X nonsense 0.00000863●●●●●●
30. 78082354 c.1142delC p.Ala382LeufsTer10 frameshift 0.00000858●●●●●●
31. 78079694 c.692+1G>C essential splice site 0.00000858●●●●●●
32. 78078420 c.35_38delTCCT p.Leu12ArgfsTer30 frameshift 0.00000855●●●●●●
33. 78082339 c.1127delG p.Gly377AlafsTer15 frameshift 0.00000855●●●●●●
34. 78091472 c.2405_2423delGGCAGTGGGTGACGCTGCC p.Gln803ProfsTer39 frameshift 0.00000854●●●●●●
35. 78078428 c.43_44insT p.Cys16LeufsTer19 frameshift 0.00000852●●●●●●
36. 78091425 c.2358delC p.Pro787HisfsTer19 frameshift 0.00000841●●●●●●
37. 78091990 c.2482-2A>G essential splice site 0.00000840●●●●●●
38. 78090909 c.2331+1G>C essential splice site 0.00000839●●●●●●
39. 78092022 c.2512C>T p.Q838X nonsense 0.00000837●●●●●●
40. 78085789 c.1644_1645insG p.Thr551AspfsTer85 frameshift 0.00000835●●●●●●
41. 78081481 c.818G>A p.W273X nonsense 0.00000832●●●●●●
42. 78084798 c.1610delA p.Glu537GlyfsTer41 frameshift 0.00000831●●●●●●
43. 78090814 c.2237G>A p.W746X nonsense 0.00000830●●●●●●
44. 78090815 c.2238G>A p.W746X nonsense 0.00000830●●●●●●
45. 78084584 c.1496G>A p.W499X nonsense 0.00000827●●●●●●
46. 78084640 c.1551+1G>T essential splice site 0.00000827●●●●●●
47. 78092541 c.2736_2737insC p.Gln914ProfsTer104 frameshift 0.00000826●●●●●●

* 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.