ENDOG variants in ExAC

ENDOG gene summary
ENDOG variants in

The table below lists the ENDOG 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. 131580998 c.35C>T p.S12L missense 0.66666667●●●●●●
2. 131581117 c.154C>T p.P52S missense 0.01428571●●●●●●
3. 131581161 c.198G>C p.K66N missense 0.00711610●●●●●●
4. 131584729 c.734G>T p.R245L missense 0.00417921●●●●●●
5. 131584732 c.737C>T p.T246I missense 0.00403694●●●●●●
6. 131583071 c.555C>A p.S185R missense 0.00333250●●●●●●
7. 131584881 c.886_889delAGTA p.Lys297GlufsX6 frameshift 0.00253692●●●●●●
8. 131583130 c.611+3A>G splice site 0.00185354●●●●●●
9. 131583010 c.502-8C>T splice site 0.00033087●●●●●●
10. 131583067 c.551G>A p.R184H missense 0.00027285●●●●●●
11. 131581204 c.241T>G p.Y81D missense 0.00024618●●●●●●
12. 131584720 c.725T>C p.I242T missense 0.00024129●●●●●●
13. 131581360 c.397C>T p.R133C missense 0.00020530●●●●●●
14. 131584804 c.809T>C p.I270T missense 0.00020335●●●●●●
15. 131581423 c.460G>A p.A154T missense 0.00018376●●●●●●
16. 131584747 c.752A>G p.N251S missense 0.00017441●●●●●●
17. 131584779 c.784C>T p.R262C missense 0.00015034●●●●●●
18. 131581246 c.283G>A p.V95M missense 0.00012645●●●●●●
19. 131581226 c.263G>T p.R88L missense 0.00012422●●●●●●
20. 131581467 c.501+3A>G splice site 0.00012045●●●●●●
21. 131584848 c.853C>T p.R285W missense 0.00012036●●●●●●
22. 131584873 c.878C>A p.T293K missense 0.00011479●●●●●●
23. 131584876 c.881C>T p.A294V missense 0.00011432●●●●●●
24. 131581340 c.377G>T p.R126L missense 0.00011418●●●●●●
25. 131584723 c.728A>G p.E243G missense 0.00009644●●●●●●
26. 131581378 c.415C>A p.R139S missense 0.00009608●●●●●●
27. 131581394 c.431C>G p.A144G missense 0.00009314●●●●●●
28. 131584809 c.814C>T p.R272W missense 0.00008264●●●●●●
29. 131584650 c.655G>A p.G219S missense 0.00007996●●●●●●
30. 131584780 c.785G>A p.R262H missense 0.00007603●●●●●●
31. 131583052 c.536T>C p.L179P missense 0.00007526●●●●●●
32. 131583078 c.562C>T p.R188C missense 0.00006214●●●●●●
33. 131583121 c.605T>C p.L202P missense 0.00005037●●●●●●
34. 131584729 c.734G>A p.R245H missense 0.00004494●●●●●●
35. 131583066 c.550C>T p.R184C missense 0.00004206●●●●●●
36. 131584810 c.815G>A p.R272Q missense 0.00004172●●●●●●
37. 131584816 c.821C>T p.S274L missense 0.00004172●●●●●●
38. 131584849 c.854G>A p.R285Q missense 0.00004000●●●●●●
39. 131584797 c.802G>A p.E268K missense 0.00003996●●●●●●
40. 131584794 c.799A>G p.I267V missense 0.00003933●●●●●●
41. 131584873 c.878C>T p.T293M missense 0.00003826●●●●●●
42. 131584684 c.689T>C p.F230S missense 0.00003441●●●●●●
43. 131583093 c.577G>A p.V193I missense 0.00003244●●●●●●
44. 131584677 c.682C>T p.H228Y missense 0.00003210●●●●●●
45. 131583079 c.563G>A p.R188H missense 0.00003116●●●●●●
46. 131584703 c.708G>C p.E236D missense 0.00002962●●●●●●
47. 131584662 c.667G>A p.V223M missense 0.00002861●●●●●●
48. 131584695 c.700A>G p.I234V missense 0.00002591●●●●●●
49. 131584737 c.742G>A p.V248M missense 0.00002518●●●●●●
50. 131583097 c.581A>C p.Y194S missense 0.00002195●●●●●●
51. 131584728 c.733C>G p.R245G missense 0.00002145●●●●●●
52. 131584726 c.731T>C p.L244P missense 0.00002031●●●●●●
53. 131583017 c.502-1G>C essential splice site 0.00001454●●●●●●
54. 131583017 c.502-1G>A essential splice site 0.00001454●●●●●●
55. 131583128 c.611+1G>A essential splice site 0.00001325●●●●●●
56. 131583127 c.611G>T p.R204M missense 0.00001318●●●●●●
57. 131583117 c.601T>C p.F201L missense 0.00001226●●●●●●
58. 131584682 c.687C>G p.F229L missense 0.00001146●●●●●●
59. 131583105 c.589A>C p.T197P missense 0.00001138●●●●●●
60. 131583043 c.527delG p.Trp176Ter frameshift 0.00001126●●●●●●
61. 131583044 c.528G>C p.W176C missense 0.00001113●●●●●●
62. 131583099 c.583G>A p.V195I missense 0.00001110●●●●●●
63. 131584679 c.684_686delCTT p.Phe230del inframe 0.00001080●●●●●●
64. 131583081 c.565A>G p.S189G missense 0.00001043●●●●●●
65. 131584648 c.653T>A p.I218N missense 0.00000881●●●●●●
66. 131584611 c.616G>A p.E206K missense 0.00000849●●●●●●
67. 131584620 c.625G>A p.G209R missense 0.00000848●●●●●●

* 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.