AGL truncating variants in ExAC

AGL gene summary
AGL variants in

The table below lists the AGL 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. 100350168 c.2590C>T p.R864X nonsense 0.00008262●●●●●●
2. 100349714 c.2347_2350delGAGA p.Arg784ThrfsTer20 frameshift 0.00005795●●●●●●
3. 100368263 c.3613C>T p.Q1205X nonsense 0.00004990●●●●●●
4. 100382265 c.4459C>T p.R1487X nonsense 0.00004970●●●●●●
5. 100316615 c.17_18delAG p.Gln6HisfsX20 frameshift 0.00004944●●●●●●
6. 100350260 c.2681+1G>A essential splice site 0.00004127●●●●●●
7. 100357297 c.3083+2_3083+3delTA essential splice site 0.00003298●●●●●●
8. 100379113 c.3980G>A p.W1327X nonsense 0.00002494●●●●●●
9. 100327232 c.256C>T p.Q86X nonsense 0.00002479●●●●●●
10. 100336041 c.750_753delAGAC p.Asp251GlufsTer23 frameshift 0.00002471●●●●●●
11. 100336355 c.888_889insA p.Leu298ThrfsTer14 frameshift 0.00001678●●●●●●
12. 100327094 c.118C>T p.Q40X nonsense 0.00001655●●●●●●
13. 100346885 c.2039G>A p.W680X nonsense 0.00001653●●●●●●
14. 100387136 c.4528_4529insA p.Tyr1510Ter frameshift 0.00001652●●●●●●
15. 100340950 c.1222C>T p.R408X nonsense 0.00001650●●●●●●
16. 100345603 c.1735+1G>T essential splice site 0.00001648●●●●●●
17. 100330076 c.595C>T p.Q199X nonsense 0.00001648●●●●●●
18. 100376405 c.3836+2T>C essential splice site 0.00000871●●●●●●
19. 100376404 c.3836+1G>A essential splice site 0.00000870●●●●●●
20. 100336320 c.853C>T p.R285X nonsense 0.00000864●●●●●●
21. 100349980 c.2519_2520insGTCTC p.Pro842ArgfsTer28 frameshift 0.00000854●●●●●●
22. 100336404 c.937delT p.Phe313LeufsTer12 frameshift 0.00000845●●●●●●
23. 100379098 c.3965delT frameshift 0.00000841●●●●●●
24. 100336374 c.907C>T p.Q303X nonsense 0.00000837●●●●●●
25. 100350123 c.2547-2_2547-1delAG essential splice site 0.00000835●●●●●●
26. 100368302 c.3652C>T p.R1218X nonsense 0.00000833●●●●●●
27. 100382041 c.4335T>A p.Y1445X nonsense 0.00000833●●●●●●
28. 100327076 c.100C>T p.R34X nonsense 0.00000831●●●●●●
29. 100381043 c.4259+1G>A essential splice site 0.00000828●●●●●●
30. 100327268 c.292delG p.Gly98GlufsTer10 frameshift 0.00000828●●●●●●
31. 100357995 c.3091C>T p.Gln1031Ter nonsense 0.00000827●●●●●●
32. 100356914 c.2949+2T>C essential splice site 0.00000827●●●●●●
33. 100343347 c.1574delT p.Asp526IlefsTer10 frameshift 0.00000826●●●●●●
34. 100327198 c.222_223delAG p.Asp75Ter frameshift 0.00000826●●●●●●
35. 100358118 c.3214G>T p.E1072X nonsense 0.00000826●●●●●●
36. 100358030 c.3126_3127insGGTTC p.Leu1047PhefsTer6 frameshift 0.00000826●●●●●●
37. 100342154 c.1423+1G>C essential splice site 0.00000826●●●●●●
38. 100327211 c.235_236insT p.Lys79IlefsTer4 frameshift 0.00000826●●●●●●
39. 100327216 c.240C>G p.Y80X nonsense 0.00000826●●●●●●
40. 100358118 c.3214_3215delGA p.Glu1072AspfsTer36 frameshift 0.00000826●●●●●●
41. 100340367 c.1082+1G>A essential splice site 0.00000826●●●●●●
42. 100327225 c.249_250insA p.Asn84LysfsTer17 frameshift 0.00000826●●●●●●
43. 100327189 c.213_214delAG p.Glu72LysfsTer4 frameshift 0.00000826●●●●●●
44. 100342112 c.1382G>A p.W461X nonsense 0.00000825●●●●●●
45. 100353580 c.2728C>T p.R910X nonsense 0.00000825●●●●●●
46. 100340979 c.1251_1252insC p.Val419CysfsTer3 frameshift 0.00000825●●●●●●
47. 100350260 c.2681+1G>T essential splice site 0.00000825●●●●●●
48. 100379191 c.4058_4059insA p.Asn1354LysfsTer12 frameshift 0.00000825●●●●●●
49. 100350247 c.2669delT p.Pro891LeufsTer9 frameshift 0.00000825●●●●●●
50. 100357160 c.2950-2A>C essential splice site 0.00000825●●●●●●
51. 100342135 c.1405C>T p.R469X nonsense 0.00000825●●●●●●
52. 100327913 c.394delT p.Leu133Ter frameshift 0.00000824●●●●●●
53. 100346235 c.1783C>T p.R595X nonsense 0.00000824●●●●●●
54. 100316614 c.16C>T p.Q6X nonsense 0.00000824●●●●●●
55. 100327925 c.406_409delTGTT p.Cys136TrpfsTer21 frameshift 0.00000824●●●●●●
56. 100366273 c.3444C>A p.Y1148X nonsense 0.00000824●●●●●●
57. 100327812 c.294-1G>T essential splice site 0.00000824●●●●●●
58. 100379232 c.4099delG p.Gly1367GlufsTer17 frameshift 0.00000824●●●●●●
59. 100366383 c.3554delC frameshift 0.00000824●●●●●●
60. 100330009 c.528_529insA p.Asn177LysfsTer8 frameshift 0.00000824●●●●●●
61. 100316633 c.35_36insGC p.Asn13ArgfsTer24 frameshift 0.00000824●●●●●●
62. 100343300 c.1527_1528insA p.Tyr512IlefsTer3 frameshift 0.00000824●●●●●●
63. 100327812 c.294-1G>C essential splice site 0.00000824●●●●●●
64. 100343289 c.1516_1517delTG p.W506Gfs*8 frameshift 0.00000824●●●●●●
65. 100357226 c.3014delG frameshift 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.