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

* 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.