IL10 variants in ExAC


The table below lists the IL10 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. 206945738 c.43G>A p.G15R missense 0.00188757
2. 206945608 c.165+8T>C splice site 0.00054403
3. 206945725 c.56G>A p.S19N missense 0.00015658
4. 206943235 c.383G>T p.R128L missense 0.00014858
5. 206945723 c.58C>T p.P20S missense 0.00012362
6. 206941988 c.530G>A p.R177Q missense 0.00008540
7. 206944259 c.371G>A p.R124Q missense 0.00008236
8. 206945744 c.37C>A p.L13M missense 0.00004121
9. 206945663 c.118A>G p.M40V missense 0.00004119
10. 206944316 c.314T>G p.I105S missense 0.00004118
11. 206941984 c.534C>A p.N178K missense 0.00003433
12. 206944402 c.228T>C p.G76G splice site 0.00003295
13. 206942066 c.452A>C p.E151A missense 0.00002547
14. 206944695 c.225+6A>G splice site 0.00002499
15. 206945647 c.134G>A p.R45Q missense 0.00002472
16. 206944287 c.343A>T p.N115Y missense 0.00002471
17. 206944715 c.211C>A p.L71M missense 0.00001745
18. 206941989 c.529C>T p.R177X nonsense 0.00001705
19. 206942066 c.452A>G p.E151G missense 0.00001698
20. 206941997 c.521T>C p.M174T missense 0.00001692
21. 206942004 c.514A>G p.M172V missense 0.00001683
22. 206942011 c.507A>C p.E169D missense 0.00001677
23. 206943236 c.382C>T p.R128X nonsense 0.00001652
24. 206945762 c.19C>T p.L7F missense 0.00001650
25. 206945702 c.79G>A p.E27K missense 0.00001648
26. 206945612 c.165+4A>C splice site 0.00001648
27. 206945620 c.161T>C p.F54S missense 0.00001648
28. 206944381 c.249G>T p.L83F missense 0.00001647
29. 206944265 c.365G>A p.R122K missense 0.00001647
30. 206944256 c.374G>A p.R125H missense 0.00001647
31. 206944345 c.285G>A p.M95I missense 0.00001647
32. 206944409 c.226-5C>G splice site 0.00001647
33. 206944765 c.166-5T>G splice site 0.00001419
34. 206944761 c.166-1G>A essential splice site 0.00001338
35. 206944738 c.188A>G p.N63S missense 0.00001048
36. 206944723 c.203A>G p.E68G missense 0.00000913
37. 206942073 c.445C>T p.L149F missense 0.00000859
38. 206941995 c.523A>G p.K175E missense 0.00000847
39. 206942025 c.493A>G p.I165V missense 0.00000836
40. 206945762 c.19C>G p.L7V missense 0.00000825
41. 206945673 c.108C>A p.N36K missense 0.00000824
42. 206945656 c.125G>A p.R42Q missense 0.00000824
43. 206944271 c.359G>A p.R120K missense 0.00000824
44. 206945750 c.31G>A p.V11I missense 0.00000824
45. 206945637 c.144C>A p.F48L missense 0.00000824
46. 206944353 c.277G>C p.E93Q missense 0.00000824
47. 206944328 c.302A>G p.Q101R missense 0.00000824
48. 206943184 c.434C>T p.A145V missense 0.00000824
49. 206945689 c.92C>T p.T31I missense 0.00000824
50. 206945660 c.121C>T p.L41F missense 0.00000824
51. 206944386 c.244G>T p.A82S missense 0.00000824
52. 206945618 c.163T>C p.F55L missense 0.00000824
53. 206944289 c.341A>G p.E114G missense 0.00000824
54. 206945644 c.137A>G p.D46G missense 0.00000824
55. 206944356 c.274G>A p.E92K missense 0.00000824
56. 206944257 c.373C>A p.R125S missense 0.00000824
57. 206943184 c.434C>A p.A145D missense 0.00000824
58. 206944411 c.226-7C>A splice site 0.00000824
59. 206945620 c.161T>A p.F54Y missense 0.00000824
60. 206944310 c.320C>T p.A107V missense 0.00000824
61. 206944329 c.301C>A p.Q101K missense 0.00000824
62. 206943168 c.444+6C>T splice site 0.00000824
63. 206945648 c.133C>T p.R45X nonsense 0.00000824
64. 206944359 c.271C>G p.L91V missense 0.00000824
65. 206944260 c.370C>T p.R124W missense 0.00000824
66. 206945687 c.94C>T p.H32Y missense 0.00000824
67. 206944323 c.307C>T p.P103S missense 0.00000824
68. 206944341 c.289delC p.Gln97LysfsTer13 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.