EMD protein-altering variants in ExAC

EMD gene summary
EMD variants in DCM

The table below lists the EMD protein-altering variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. 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. 153608050 c.83G>C p.G28A missense 0.00001303●●●●●●
2. 153608070 c.103G>A p.E35K missense 0.00001265●●●●●●
3. 153608071 c.104_106delAGA p.Lys37del inframe 0.00002529●●●●●●
4. 153608080 c.113_115delTCT p.Phe39del inframe 0.00001258●●●●●●
5. 153608115 c.148C>T p.P50S missense 0.00002547●●●●●●
6. 153608116 c.149C>A p.P50H missense 0.00001271●●●●●●
7. 153608128 c.161C>G p.S54C missense 0.00001276●●●●●●
8. 153608134 c.167C>T p.A56V missense 0.00001273●●●●●●
9. 153608137 c.170C>T p.S57F missense 0.00001272●●●●●●
10. 153608140 c.173C>T p.S58F missense 0.00001272●●●●●●
11. 153608308 c.194A>T p.N65I missense 0.00001144●●●●●●
12. 153608317 c.203G>C p.R68T missense 0.00001143●●●●●●
13. 153608320 c.206G>T p.G69V missense 0.00001143●●●●●●
14. 153608351 c.237A>C p.K79N missense 0.00001143●●●●●●
15. 153608355 c.241G>A p.D81N missense 0.00001143●●●●●●
16. 153608618 c.290A>C p.E97A missense 0.00001169●●●●●●
17. 153608621 c.293G>A p.S98N missense 0.00001168●●●●●●
18. 153608642 c.314A>G p.Y105C missense 0.00001165●●●●●●
19. 153608650 c.322C>T p.P108S missense 0.00001166●●●●●●
20. 153608662 c.334G>T p.G112C missense 0.00002333●●●●●●
21. 153608681 c.353G>A p.R118H missense 0.00002333●●●●●●
22. 153608687 c.359C>T p.S120L missense 0.00001165●●●●●●
23. 153608713 c.385G>A p.A129T missense 0.00002336●●●●●●
24. 153609116 c.403C>T p.H135Y missense 0.00001148●●●●●●
25. 153609125 c.412G>A p.D138N missense 0.00002294●●●●●●
26. 153609149 c.436G>A p.E146K missense 0.00002291●●●●●●
27. 153609246 c.454C>T p.R152C missense 0.00003436●●●●●●
28. 153609247 c.455G>A p.R152H missense 0.00001145●●●●●●
29. 153609250 c.458C>T p.P153L missense 0.00005726●●●●●●
30. 153609252 c.460A>G p.M154V missense 0.00001145●●●●●●
31. 153609253 c.461T>C p.M154T missense 0.00001145●●●●●●
32. 153609261 c.469C>T p.R157W missense 0.00001145●●●●●●
33. 153609262 c.470G>A p.R157Q missense 0.00008016●●●●●●
34. 153609319 c.527C>T p.S176F missense 0.00001145●●●●●●
35. 153609349 c.557C>T p.S186F missense 0.00001144●●●●●●
36. 153609364 c.572T>C p.M191T missense 0.00001144●●●●●●
37. 153609367 c.575C>T p.S192F missense 0.00001144●●●●●●
38. 153609373 c.581C>T p.S194L missense 0.00003433●●●●●●
39. 153609379 c.587C>T p.S196F missense 0.00001145●●●●●●
40. 153609390 c.598T>C p.W200R missense 0.00002290●●●●●●
41. 153609399 c.607C>T p.R203C missense 0.00001145●●●●●●
42. 153609400 c.608G>A p.R203H missense 0.00004580●●●●●●
43. 153609402 c.610C>T p.R204C missense 0.00003436●●●●●●
44. 153609403 c.611G>A p.R204H missense 0.00001145●●●●●●
45. 153609412 c.620G>C p.R207P missense 0.00009166●●●●●●
46. 153609421 c.629A>C p.N210T missense 0.00001147●●●●●●
47. 153609423 c.631C>T p.R211C missense 0.00001146●●●●●●
48. 153609424 c.632G>A p.R211H missense 0.00001147●●●●●●
49. 153609454 c.662G>A p.R221H missense 0.00001150●●●●●●
50. 153609463 c.671C>T p.P224L missense 0.00002301●●●●●●
51. 153609469 c.677G>C p.W226S missense 0.00002303●●●●●●
52. 153609490 c.698T>C p.L233P missense 0.00001154●●●●●●
53. 153609496 c.704T>C p.F235S missense 0.00001156●●●●●●
54. 153609498 c.706G>A p.V236M missense 0.00001157●●●●●●
55. 153609504 c.712G>A p.V238I missense 0.00003477●●●●●●
56. 153609510 c.718T>C p.F240L missense 0.00001161●●●●●●
57. 153609520 c.728A>C p.Y243S missense 0.00001170●●●●●●
58. 153609538 c.746A>G p.E249G missense 0.00003610●●●●●●

* 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.