EMD protein-altering variants in ExAC


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 frequencyPopulations*
1. 153609412 c.620G>C p.R207P missense 0.00009166
2. 153609262 c.470G>A p.R157Q missense 0.00008016
3. 153609250 c.458C>T p.P153L missense 0.00005726
4. 153609400 c.608G>A p.R203H missense 0.00004580
5. 153609538 c.746A>G p.E249G missense 0.00003610
6. 153609504 c.712G>A p.V238I missense 0.00003477
7. 153609246 c.454C>T p.R152C missense 0.00003436
8. 153609402 c.610C>T p.R204C missense 0.00003436
9. 153609373 c.581C>T p.S194L missense 0.00003433
10. 153608115 c.148C>T p.P50S missense 0.00002547
11. 153608071 c.104_106delAGA p.Lys37del inframe 0.00002529
12. 153608713 c.385G>A p.A129T missense 0.00002336
13. 153608662 c.334G>T p.G112C missense 0.00002333
14. 153608681 c.353G>A p.R118H missense 0.00002333
15. 153609469 c.677G>C p.W226S missense 0.00002303
16. 153609463 c.671C>T p.P224L missense 0.00002301
17. 153609125 c.412G>A p.D138N missense 0.00002294
18. 153609149 c.436G>A p.E146K missense 0.00002291
19. 153609390 c.598T>C p.W200R missense 0.00002290
20. 153608050 c.83G>C p.G28A missense 0.00001303
21. 153608128 c.161C>G p.S54C missense 0.00001276
22. 153608134 c.167C>T p.A56V missense 0.00001273
23. 153608140 c.173C>T p.S58F missense 0.00001272
24. 153608137 c.170C>T p.S57F missense 0.00001272
25. 153608116 c.149C>A p.P50H missense 0.00001271
26. 153608070 c.103G>A p.E35K missense 0.00001265
27. 153608080 c.113_115delTCT p.Phe39del inframe 0.00001258
28. 153609520 c.728A>C p.Y243S missense 0.00001170
29. 153608618 c.290A>C p.E97A missense 0.00001169
30. 153608621 c.293G>A p.S98N missense 0.00001168
31. 153608650 c.322C>T p.P108S missense 0.00001166
32. 153608642 c.314A>G p.Y105C missense 0.00001165
33. 153608687 c.359C>T p.S120L missense 0.00001165
34. 153609510 c.718T>C p.F240L missense 0.00001161
35. 153609498 c.706G>A p.V236M missense 0.00001157
36. 153609496 c.704T>C p.F235S missense 0.00001156
37. 153609490 c.698T>C p.L233P missense 0.00001154
38. 153609454 c.662G>A p.R221H missense 0.00001150
39. 153609116 c.403C>T p.H135Y missense 0.00001148
40. 153609424 c.632G>A p.R211H missense 0.00001147
41. 153609421 c.629A>C p.N210T missense 0.00001147
42. 153609423 c.631C>T p.R211C missense 0.00001146
43. 153609379 c.587C>T p.S196F missense 0.00001145
44. 153609403 c.611G>A p.R204H missense 0.00001145
45. 153609247 c.455G>A p.R152H missense 0.00001145
46. 153609253 c.461T>C p.M154T missense 0.00001145
47. 153609261 c.469C>T p.R157W missense 0.00001145
48. 153609399 c.607C>T p.R203C missense 0.00001145
49. 153609319 c.527C>T p.S176F missense 0.00001145
50. 153609252 c.460A>G p.M154V missense 0.00001145
51. 153609364 c.572T>C p.M191T missense 0.00001144
52. 153608308 c.194A>T p.N65I missense 0.00001144
53. 153609367 c.575C>T p.S192F missense 0.00001144
54. 153609349 c.557C>T p.S186F missense 0.00001144
55. 153608317 c.203G>C p.R68T missense 0.00001143
56. 153608351 c.237A>C p.K79N missense 0.00001143
57. 153608320 c.206G>T p.G69V missense 0.00001143
58. 153608355 c.241G>A p.D81N 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.