PPP1R17 variants in ExAC

PPP1R17 gene summary
PPP1R17 variants in

The table below lists the PPP1R17 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. 31735179 c.179delA p.Lys62AsnfsTer24 frameshift 0.00028886●●●●●●
5. 31746868 c.439G>A p.E147K missense 0.00028125●●●●●●
6. 31746832 c.403A>G p.R135G missense 0.00018206●●●●●●
7. 31735140 c.140G>A p.G47E missense 0.00012368●●●●●●
8. 31735209 c.209C>T p.A70V missense 0.00011563●●●●●●
9. 31735208 c.208G>A p.A70T missense 0.00011559●●●●●●
10. 31746838 c.409G>A p.E137K missense 0.00010746●●●●●●
11. 31735179 c.179dupA p.Pro63ThrfsTer25 frameshift 0.00009904●●●●●●
12. 31746856 c.427G>A p.V143M missense 0.00007438●●●●●●
13. 31736602 c.259A>G p.K87E missense 0.00007428●●●●●●
14. 31732118 c.63C>A p.D21E missense 0.00007417●●●●●●
15. 31735187 c.187C>A p.P63T missense 0.00005772●●●●●●
16. 31736575 c.236-4G>A splice site 0.00004161●●●●●●
17. 31736611 c.268G>A p.D90N missense 0.00004122●●●●●●
18. 31732122 c.67C>T p.R23C missense 0.00004121●●●●●●
19. 31732086 c.31G>A p.E11K missense 0.00004120●●●●●●
20. 31732108 c.53A>G p.D18G missense 0.00004120●●●●●●
21. 31746867 c.438C>A p.D146E missense 0.00003308●●●●●●
22. 31736719 c.376C>A p.P126T missense 0.00003303●●●●●●
23. 31732078 c.23A>G p.Q8R missense 0.00003296●●●●●●
24. 31735236 c.235+1G>A essential splice site 0.00002484●●●●●●
25. 31736596 c.253T>G p.L85V missense 0.00002477●●●●●●
26. 31736608 c.265T>C p.Y89H missense 0.00002474●●●●●●
27. 31736701 c.358C>T p.P120S missense 0.00002473●●●●●●
28. 31732123 c.68G>A p.R23H missense 0.00002473●●●●●●
29. 31732084 c.29T>C p.L10P missense 0.00002472●●●●●●
30. 31735077 c.83-6A>G splice site 0.00001686●●●●●●
31. 31746886 c.457A>G p.I153V missense 0.00001659●●●●●●
32. 31746836 c.407A>G p.D136G missense 0.00001654●●●●●●
33. 31746838 c.409G>C p.E137Q missense 0.00001653●●●●●●
34. 31735217 c.217A>G p.I73V missense 0.00001653●●●●●●
35. 31736717 c.374C>G p.S125C missense 0.00001651●●●●●●
36. 31735203 c.203C>T p.T68I missense 0.00001651●●●●●●
37. 31735206 c.206C>T p.P69L missense 0.00001651●●●●●●
38. 31736614 c.271G>A p.V91I missense 0.00001649●●●●●●
39. 31736705 c.362C>A p.A121D missense 0.00001649●●●●●●
40. 31735160 c.160C>G p.L54V missense 0.00001649●●●●●●
41. 31736626 c.283C>T p.H95Y missense 0.00001648●●●●●●
42. 31735082 c.83-1G>C essential splice site 0.00000839●●●●●●
43. 31736574 c.236-5T>C splice site 0.00000833●●●●●●
44. 31746894 c.465T>G p.I155M missense 0.00000832●●●●●●
45. 31735094 c.94G>A p.D32N missense 0.00000831●●●●●●
46. 31746886 c.457A>T p.I153L missense 0.00000830●●●●●●
47. 31736735 c.388+4A>G splice site 0.00000829●●●●●●
48. 31746883 c.454A>G p.K152E missense 0.00000829●●●●●●
49. 31736733 c.388+2delT essential splice site 0.00000828●●●●●●
50. 31732020 c.-36T>C splice site 0.00000827●●●●●●
51. 31736730 c.387A>T splice site 0.00000827●●●●●●
52. 31746865 c.436G>T p.D146Y missense 0.00000827●●●●●●
53. 31735211 c.211C>A p.L71M missense 0.00000826●●●●●●
54. 31735113 c.113G>A p.C38Y missense 0.00000826●●●●●●
55. 31735114 c.114T>A p.C38X nonsense 0.00000826●●●●●●
56. 31746853 c.424A>G p.I142V missense 0.00000826●●●●●●
57. 31736593 c.250C>T p.H84Y missense 0.00000826●●●●●●
58. 31736610 c.267C>G p.Y89X nonsense 0.00000825●●●●●●
59. 31735130 c.130C>T p.P44S missense 0.00000825●●●●●●
60. 31735121 c.121A>C p.K41Q missense 0.00000825●●●●●●
61. 31736717 c.374C>T p.S125F missense 0.00000825●●●●●●
62. 31735160 c.160C>A p.L54M missense 0.00000825●●●●●●
63. 31735186 c.186A>C p.K62N missense 0.00000825●●●●●●
64. 31736714 c.371T>G p.M124R missense 0.00000825●●●●●●
65. 31735146 c.146A>T p.N49I missense 0.00000825●●●●●●
66. 31735192 c.192G>C p.R64S missense 0.00000825●●●●●●
67. 31735118 c.118C>A p.L40I missense 0.00000825●●●●●●
68. 31735166 c.166G>A p.V56I missense 0.00000824●●●●●●
69. 31732127 c.72C>A p.C24X nonsense 0.00000824●●●●●●
70. 31735175 c.175G>T p.D59Y missense 0.00000824●●●●●●
71. 31736642 c.299T>C p.M100T 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.