EMD variants in ExAC

EMD gene summary
EMD variants in DCM

The table below lists the EMD 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. 153608351 c.237A>C p.K79N missense 0.00001143●●●●●●
2. 153608355 c.241G>A p.D81N missense 0.00001143●●●●●●
3. 153608600 c.272A>G p.N91S missense 0.00022364●●●●●●
4. 153609141 c.428C>T p.S143F missense 0.00018340●●●●●●
5. 153609158 c.445G>C p.D149H missense 0.00066451●●●●●●
6. 153609258 c.466G>A p.G156S missense 0.00038934●●●●●●
7. 153609262 c.470G>A p.R157Q missense 0.00008016●●●●●●
8. 153609400 c.608G>A p.R203H missense 0.00004580●●●●●●
9. 153609438 c.646G>A p.G216R missense 0.00010329●●●●●●
10. 153609469 c.677G>C p.W226S missense 0.00002303●●●●●●
11. 153609349 c.557C>T p.S186F missense 0.00001144●●●●●●
12. 153609390 c.598T>C p.W200R missense 0.00002290●●●●●●
13. 153609246 c.454C>T p.R152C missense 0.00003436●●●●●●
14. 153608115 c.148C>T p.P50S missense 0.00002547●●●●●●
15. 153608308 c.194A>T p.N65I missense 0.00001144●●●●●●
16. 153609373 c.581C>T p.S194L missense 0.00003433●●●●●●
17. 153609424 c.632G>A p.R211H missense 0.00001147●●●●●●
18. 153609379 c.587C>T p.S196F missense 0.00001145●●●●●●
19. 153608050 c.83G>C p.G28A missense 0.00001303●●●●●●
20. 153608070 c.103G>A p.E35K missense 0.00001265●●●●●●
21. 153608116 c.149C>A p.P50H missense 0.00001271●●●●●●
22. 153608128 c.161C>G p.S54C missense 0.00001276●●●●●●
23. 153608134 c.167C>T p.A56V missense 0.00001273●●●●●●
24. 153608137 c.170C>T p.S57F missense 0.00001272●●●●●●
25. 153608140 c.173C>T p.S58F missense 0.00001272●●●●●●
26. 153608317 c.203G>C p.R68T missense 0.00001143●●●●●●
27. 153608320 c.206G>T p.G69V missense 0.00001143●●●●●●
28. 153608618 c.290A>C p.E97A missense 0.00001169●●●●●●
29. 153608621 c.293G>A p.S98N missense 0.00001168●●●●●●
30. 153608642 c.314A>G p.Y105C missense 0.00001165●●●●●●
31. 153608650 c.322C>T p.P108S missense 0.00001166●●●●●●
32. 153608662 c.334G>T p.G112C missense 0.00002333●●●●●●
33. 153608681 c.353G>A p.R118H missense 0.00002333●●●●●●
34. 153608687 c.359C>T p.S120L missense 0.00001165●●●●●●
35. 153608713 c.385G>A p.A129T missense 0.00002336●●●●●●
36. 153609116 c.403C>T p.H135Y missense 0.00001148●●●●●●
37. 153609125 c.412G>A p.D138N missense 0.00002294●●●●●●
38. 153609149 c.436G>A p.E146K missense 0.00002291●●●●●●
39. 153609247 c.455G>A p.R152H missense 0.00001145●●●●●●
40. 153609250 c.458C>T p.P153L missense 0.00005726●●●●●●
41. 153609252 c.460A>G p.M154V missense 0.00001145●●●●●●
42. 153609253 c.461T>C p.M154T missense 0.00001145●●●●●●
43. 153609258 c.466G>C p.G156R missense 0.00010306●●●●●●
44. 153609261 c.469C>T p.R157W missense 0.00001145●●●●●●
45. 153609319 c.527C>T p.S176F missense 0.00001145●●●●●●
46. 153609364 c.572T>C p.M191T missense 0.00001144●●●●●●
47. 153609367 c.575C>T p.S192F missense 0.00001144●●●●●●
48. 153609399 c.607C>T p.R203C missense 0.00001145●●●●●●
49. 153609402 c.610C>G p.R204G missense 0.00019469●●●●●●
50. 153609402 c.610C>T p.R204C missense 0.00003436●●●●●●
51. 153609403 c.611G>A p.R204H missense 0.00001145●●●●●●
52. 153609412 c.620G>C p.R207P missense 0.00009166●●●●●●
53. 153609421 c.629A>C p.N210T missense 0.00001147●●●●●●
54. 153609423 c.631C>T p.R211C missense 0.00001146●●●●●●
55. 153609454 c.662G>T p.R221L missense 0.00016099●●●●●●
56. 153609454 c.662G>A p.R221H missense 0.00001150●●●●●●
57. 153609463 c.671C>T p.P224L missense 0.00002301●●●●●●
58. 153609490 c.698T>C p.L233P missense 0.00001154●●●●●●
59. 153609496 c.704T>C p.F235S missense 0.00001156●●●●●●
60. 153609498 c.706G>A p.V236M missense 0.00001157●●●●●●
61. 153609504 c.712G>A p.V238I missense 0.00003477●●●●●●
62. 153609510 c.718T>C p.F240L missense 0.00001161●●●●●●
63. 153609520 c.728A>C p.Y243S missense 0.00001170●●●●●●
64. 153609538 c.746A>G p.E249G missense 0.00003610●●●●●●
65. 153607930 c.82+4C>T splice site 0.00007193●●●●●●
66. 153609167 c.449+5G>A splice site 0.00001145●●●●●●
67. 153608378 c.264G>A splice site 0.00001144●●●●●●
68. 153609107 c.400-6C>T splice site 0.00002297●●●●●●
69. 153609109 c.400-4G>T splice site 0.00002297●●●●●●
70. 153608071 c.104_106delAGA p.Lys37del inframe 0.00002529●●●●●●
71. 153608080 c.113_115delTCT p.Phe39del inframe 0.00001258●●●●●●

* 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.