PPP1R17 missense variants in ExAC

PPP1R17 gene summary
PPP1R17 variants in

The table below lists the PPP1R17 missense 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. 31732089 c.34C>G p.L12V missense 0.12303052●●●●●●
2. 31732084 c.29T>G p.L10R missense 0.02021159●●●●●●
3. 31736599 c.256A>C p.I86L missense 0.00032193●●●●●●
4. 31746868 c.439G>A p.E147K missense 0.00028125●●●●●●
5. 31746832 c.403A>G p.R135G missense 0.00018206●●●●●●
6. 31735140 c.140G>A p.G47E missense 0.00012368●●●●●●
7. 31735209 c.209C>T p.A70V missense 0.00011563●●●●●●
8. 31735208 c.208G>A p.A70T missense 0.00011559●●●●●●
9. 31746838 c.409G>A p.E137K missense 0.00010746●●●●●●
10. 31746856 c.427G>A p.V143M missense 0.00007438●●●●●●
11. 31736602 c.259A>G p.K87E missense 0.00007428●●●●●●
12. 31732118 c.63C>A p.D21E missense 0.00007417●●●●●●
13. 31735187 c.187C>A p.P63T missense 0.00005772●●●●●●
14. 31736611 c.268G>A p.D90N missense 0.00004122●●●●●●
15. 31732122 c.67C>T p.R23C missense 0.00004121●●●●●●
16. 31732108 c.53A>G p.D18G missense 0.00004120●●●●●●
17. 31732086 c.31G>A p.E11K missense 0.00004120●●●●●●
18. 31746867 c.438C>A p.D146E missense 0.00003308●●●●●●
19. 31736719 c.376C>A p.P126T missense 0.00003303●●●●●●
20. 31732078 c.23A>G p.Q8R missense 0.00003296●●●●●●
21. 31736596 c.253T>G p.L85V missense 0.00002477●●●●●●
22. 31736608 c.265T>C p.Y89H missense 0.00002474●●●●●●
23. 31732123 c.68G>A p.R23H missense 0.00002473●●●●●●
24. 31736701 c.358C>T p.P120S missense 0.00002473●●●●●●
25. 31732084 c.29T>C p.L10P missense 0.00002472●●●●●●
26. 31746886 c.457A>G p.I153V missense 0.00001659●●●●●●
27. 31746836 c.407A>G p.D136G missense 0.00001654●●●●●●
28. 31735217 c.217A>G p.I73V missense 0.00001653●●●●●●
29. 31746838 c.409G>C p.E137Q missense 0.00001653●●●●●●
30. 31735206 c.206C>T p.P69L missense 0.00001651●●●●●●
31. 31736717 c.374C>G p.S125C missense 0.00001651●●●●●●
32. 31735203 c.203C>T p.T68I missense 0.00001651●●●●●●
33. 31736705 c.362C>A p.A121D missense 0.00001649●●●●●●
34. 31736614 c.271G>A p.V91I missense 0.00001649●●●●●●
35. 31735160 c.160C>G p.L54V missense 0.00001649●●●●●●
36. 31736626 c.283C>T p.H95Y missense 0.00001648●●●●●●
37. 31746894 c.465T>G p.I155M missense 0.00000832●●●●●●
38. 31735094 c.94G>A p.D32N missense 0.00000831●●●●●●
39. 31746886 c.457A>T p.I153L missense 0.00000830●●●●●●
40. 31746883 c.454A>G p.K152E missense 0.00000829●●●●●●
41. 31746865 c.436G>T p.D146Y missense 0.00000827●●●●●●
42. 31736593 c.250C>T p.H84Y missense 0.00000826●●●●●●
43. 31746853 c.424A>G p.I142V missense 0.00000826●●●●●●
44. 31735211 c.211C>A p.L71M missense 0.00000826●●●●●●
45. 31735113 c.113G>A p.C38Y missense 0.00000826●●●●●●
46. 31735130 c.130C>T p.P44S missense 0.00000825●●●●●●
47. 31735146 c.146A>T p.N49I missense 0.00000825●●●●●●
48. 31736714 c.371T>G p.M124R missense 0.00000825●●●●●●
49. 31735118 c.118C>A p.L40I missense 0.00000825●●●●●●
50. 31735160 c.160C>A p.L54M missense 0.00000825●●●●●●
51. 31736717 c.374C>T p.S125F missense 0.00000825●●●●●●
52. 31735186 c.186A>C p.K62N missense 0.00000825●●●●●●
53. 31735121 c.121A>C p.K41Q missense 0.00000825●●●●●●
54. 31735192 c.192G>C p.R64S missense 0.00000825●●●●●●
55. 31735166 c.166G>A p.V56I missense 0.00000824●●●●●●
56. 31736642 c.299T>C p.M100T missense 0.00000824●●●●●●
57. 31735175 c.175G>T p.D59Y missense 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.