DPP6 splice variants in ExAC


The table below lists the DPP6 splice 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. 154679447 c.2112+3G>A splice site 0.97036522
2. 154672662 c.1941+10C>T splice site 0.13354625
3. 154677332 c.1942-11G>A splice site 0.01425909
4. 154237613 c.266-4A>G splice site 0.01334524
5. 154519606 c.691+9T>C splice site 0.00891982
6. 154681250 c.2259+10G>A splice site 0.00156272
7. 154672587 c.1887-11C>T splice site 0.00087783
8. 154237608 c.266-9C>G splice site 0.00048073
9. 154519471 c.571-6A>C splice site 0.00045245
10. 154672661 c.1941+9G>C splice site 0.00033156
11. 154587548 c.1069-7A>G splice site 0.00014695
12. 154585781 c.945-8G>A splice site 0.00012736
13. 154264001 c.435C>T splice site 0.00011265
14. 154143288 c.52-11G>T splice site 0.00010153
15. 154664401 c.1689G>A p.V563V splice site 0.00009996
16. 154681249 c.2259+9C>A splice site 0.00009761
17. 154677334 c.1942-9T>C splice site 0.00007999
18. 154593062 c.1108-3C>T splice site 0.00006296
19. 154596679 c.1355+5C>T splice site 0.00005555
20. 153584825 c.51+6T>G splice site 0.00005035
21. 154672588 c.1887-10G>A splice site 0.00004969
22. 154519474 c.571-3T>C splice site 0.00004878
23. 154680972 c.2113-10G>A splice site 0.00004559
24. 154461162 c.570+11C>A splice site 0.00004267
25. 154680971 c.2113-11C>T splice site 0.00003659
26. 154264004 c.435+3G>A splice site 0.00003480
27. 154585920 c.1068+8G>C splice site 0.00003310
28. 154681162 c.2186-5C>T splice site 0.00003119
29. 154677462 c.2053+8G>A splice site 0.00002550
30. 154677459 c.2053+5A>G splice site 0.00002487
31. 154679379 c.2054-7C>T splice site 0.00002484
32. 154664331 c.1622-3C>T splice site 0.00002055
33. 154680975 c.2113-7T>C splice site 0.00001806
34. 154561122 c.692-5C>G splice site 0.00001657
35. 154681247 c.2259+7T>C splice site 0.00001389
36. 154681156 c.2186-11T>A splice site 0.00001385
37. 154237614 c.266-3C>T splice site 0.00001244
38. 154585919 c.1068+7G>T splice site 0.00001104
39. 154564549 c.847-6C>T splice site 0.00001076
40. 154587601 c.1107+8C>T splice site 0.00000998
41. 154595672 c.1307+7G>A splice site 0.00000945
42. 154681053 c.2184T>C p.D728D splice site 0.00000884
43. 154264008 c.435+7A>G splice site 0.00000878
44. 154595576 c.1218C>G splice site 0.00000874
45. 154143292 c.52-7T>C splice site 0.00000842
46. 154172025 c.168G>A splice site 0.00000841
47. 154598696 c.1356-8T>C splice site 0.00000840
48. 153584826 c.51+7G>T splice site 0.00000839
49. 154519605 c.691+8G>A splice site 0.00000830
50. 154143419 c.166+6G>A splice site 0.00000830
51. 154143416 c.166+3A>G splice site 0.00000830
52. 154684041 c.2260-3C>T splice site 0.00000829
53. 154561119 c.692-8T>C splice site 0.00000829
54. 154672655 c.1941+3G>A splice site 0.00000829
55. 154561121 c.692-6C>T splice site 0.00000829
56. 154561122 c.692-5C>T splice site 0.00000829
57. 154672592 c.1887-6T>C splice site 0.00000828
58. 154672652 c.1941G>A p.K647K splice site 0.00000828
59. 154645486 c.1475-4A>G splice site 0.00000828
60. 154672593 c.1887-5C>T splice site 0.00000828

* 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.